Paediatrics Flashcards
What are the 5 key develomental fields?
Gross motor
Fine motor
Social and self-help
Speech and language
Hearing and vision
What factors influence development?
- Genetics (Family, race, gender)
- Environment
- Positive early childhood experience
- Developing brain vulnerable to insults
–Antenatal
–Post natal
–Abuse and neglect
What are adverse environmental factors for develoment?
•Antenatal
–Infections (CMV, Rubella, Toxo, VZV)
–Toxins (Alcohol, Smoking, Anti-epileptics)
•Postnatal
–Infection (Meningitis, encephalitis)
–Toxins (solvents mercury, lead)
–Trauma (Head injuries)
–Malnutrition (iron, folate, vit D)
–Metabolic (Hypoglycaemia, hyper + hyponatraemia)
–Maltreatment/ under stimulation/ domestic violence
–Maternal mental health issues
•Good (sensitive) histories are therefore important
Who performs developmental assessment?
•Patients
–Child surveillance v.s. developmental screening v.s. developmental assessment
–Specific groups (premature, syndromes, events)
•Assessors
–Parents and wider family
–Health visitors, nursery, teachers
–GPs, A+E, FYs, STs, students
–Paediatricians and community paediatricians
What is used to determine developmental assessment?
Healthy chid programme
Information from parents
Red book
Medical history and examination
What are the recogniased phases of childhood?
- Neonate (<4w)
- Infant (<12m/1y)
- Toddler (~1-2y)
- Pre-school (~2-5y)
- School age
- Teenager/ Adolescent
Examples of normal variation of development
- Early developers
- Late normal
- Bottom shufflers- walking delay
- Bilingual families- apparent language delay (total words may be normal)
- Familial traits
What are developmental red flags?
- Loss of developmental skills
- Parental/ professional concern re. vision (simultaneous referral to paediatric ophthalmology)
- Hearing loss (simultaneous referral for audiology/ ENT)
- Persistent low muscle tone/ floppiness
- No speech by 18 months, esp if no other communication (simultaneous referral for urgent hearing test)
- Asymmetry of movements/ increased muscle tone
- Not walking by 18m/ Persistent toe walking
- OFC > 99.6th / < 0.4th / crossed two centiles/ disproportionate to parental OFC (occipitofrontal circumference)
- Clinician uncertain/ thinks that development may be disordered
Who is responsibe for keeping track of the healthy child programme?
GP,s health visitors and midwives
What are the screening events for babies?
- New-born exam and blood spot screening*
- New-born hearing screening (by Day 28)
- Health Visitor First Visit
- 6-8w Review (Max 12w)
- 27-30 month Review (Max 32m)
- Orthoptist vision screening (4-5y)
- If needed
–Unscheduled review
–Recall review
What diseases are screened for in the child health programme?
The programme includes screening for Phenylketonuria (PKU); Congenital Hypothyroidism (CHT); and Cystic Fibrosis (CF), Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) and Sickle Cell Disorder (SCD).
What is covered in the 6-8 week review?
- Identification data (Name, address, GP)
- Feeding (breast/ bottle/ both)
- Parental concerns (appearance, hearing; eyes, sleeping, movement, illness, crying, weight)
- Development (gross motor, hearing + communication, vision + social awareness)
- Measurements (Weight, OFC, Length)
- Examination (heart, hips, testes, genitalia, femoral pulses and eyes (red reflex))
- Sleeping position (supine, prone, side)
What is covered in the 27-30 month review?
- Identification data (name, address, GP)
- Development
–Social, behavioural, attention and emotional
–Communication, speech and language
–Gross and fine motor
–Vision, hearing
- Physical measurements (height and weight)
- Diagnoses / other issues
What are the health promotion aspects of the healthy child programme?
•Health Promotion
–Smoking
–Alcohol/ Drugs
–Nutrition
–Hazards and safety
–Dental Health
–Support services
•Additional input during immunisations and as issues are identified
When might you postpone a vaccination for a child?
•Postponed if unwell (fever, systemic symptoms)
What are the physical measurements for growth monitoring?
•Physical measurements of 3 key parameters
–Weight (grams and Kgs)
–Length (cm) or height (if >2y)
–Head circumference (OFC) (cm)
What are the values of weight, length and OFC for birth, 4 months, 12 months and 3 years
What is failure to thrive?
•Child growing too slowly in form and usually in function at the expected rate for his or her age
What is the general cause of failure to thrive?
Supply of energy is less than the demand of energy
What are maternal causes of failure to thrive?
–Poor lactation
–Incorrectly prepared feeds
–Unusual milk or other feeds
–Inadequate care
What are infant causes of failure to thrive?
–Prematurity
–Small for dates
–Oro palatal abnormalities (e.g. cleft palate)
–Neuromuscular disease (e.g. cerebral palsy)
–Genetic disorders
Increased metabolic demands
Excessive nutrient loss
Give examples of causes of increased metabolic demands
- Congenital lung disease
- Heart disease
- Liver disease
- Renal disease
- Infection
- Anemia
- Inborn errors of metabolism
- Cystic fibrosis
- Thyroid disease
- Crohn’s/ IBD
- Malignancy
Give examples of causes excessive nutrient loss
- Gastro oesophageal reflux
- Pyloric stenosis
- Gastroenteritis (post-infectious phase)
- Malabsorption
–Food allergy
–Persistent diarrhoea
–Coeliac disease
–Pancreatic insuffiency
–Short bowel syndrome
What are non-organic causes of failure to thrive?
- Poverty/ socio-economic status
- Dysfunctional family interactions (especially maternal depression or drug use)
- Difficult parent-child interactions
- Lack of parental support (eg, no friends, no extended family)
- Lack of preparation for parenting/ education
- Child neglect
- Emotional deprivation syndrome
- Poor feeding or feeding skills disorder
- Feeding disorders (eg, anorexia, bulimia- later years)
What is presentation of eczema?
Itchy, dry inflammatory skin disease.
What are the types of eczema that have endogenous causes?
Atopic – ‘genetic barrier dysfunction’
Seborrheoic – face/scalp – scale associated
Discoid – annular/circular patches
Pomphylx – vesicles affecting palms/soles
Varicose – oedema/venous insufficiency
What are exogenous causes of eczema?
Exogenous (external cause)
Allergic contact dermatitis (sensitised to allergen)
Irritant contact dermatitis (friction, cold, chemicals e.g acids,alkalis, detergents, solvents)
Photosensitive/photoaggravated eczema
What can causes flares of eczema?
- Flares can be associated with:
- Infections/viral illness
- Environment: central heating, cold air
- Pets: if sensitised/allergic
- Teething
- Stress
- Sometimes no cause for flare found
What protein is associated with atopic eczema?
Filaggrin
What is the effect of the loss of barrier functino on the skin?
Loss of water
Irritants may penetrate (soap detergeant, solvents, dirt)
Allergens may penetrate (pollens, dust-mite antigens, microbes)
Where on the body is mainly affected byu seborrheoic dermatitis?
Mainly the scalp and the face
Who is often affected by seborrheoic dermatitis?
Babies under 3 months, usually resolves by 12 months
What is the causative organism for seborrhoeic dermatitis?
Associated with proliferation of various species of the skin commensal Malassezia in its yeast form
Treatment for seborrheoic dermatitis
•Emollients, antifungal creams,
antifungal shampoos, mild topical
steroids
What are the features of varicose eczema?
- Associated with oedema, varicose veins, chronic leg swelling
- Skin often dry and inflamed
- Skin may ulcerate
What is the managment for varicose eczema?
Emollients, topical steroids, compression stockings
What is thre effect of food allergy on eczema?
- Immediate reactions (lip swelling, facial redness/itching, anaphylactoid symptoms)
- Late reactions (worsening of eczema 24/48 hours after ingestion) – especially if pattern with specific food (food diaries encouraged).
- GI problems
- Failure to thrive
- Severe eczema unresponsive to treatment
- Severe generalised itching – even when the skin appears clear
- Atopy can be associated with food allergy
What are the two ways to test for food allergy?
- 2 ways to test for food allergy:
- Blood test for specific IgE antibodies to certain foods
- Skin prick testing
What are the most common food products that you can be allergic to?
•Commonest: milk/dairy, soy, peanuts, eggs, wheat, fish
Give examples of airbourne allergens
•Airborne allergens (can also be tested for in same way)
- house dust mite, pet dander, pollens
What is treatment for eczema?
- Emollients (Lotions, creams or ointments – fragrance free, greasier ointments more effective)
- Topical steroids
- Calcineurin inhibitors (e.g protopic – steroid sparing topical agents)
- UVB light therapy
- Immunosuppressive medication
Give examples of topical steroids
- Very potent (Dermovate)600x
- Potent (Betnovate)100x
- Moderate (Eumovate) 25x
- Mild (Hydrocortisone)
What is the appearance of impetigo?
Pustules and honey coloured crusted erosions
What is the cause of impetigo?
Staph aureus
What is the treatment for Impetigo?
Topical antibacterial (fucidin)
Oral antibiotic (flucloxacillin)
What is the appearance of molluscum contagiousm?
Pearly papules, umbilicated centre
What causes molluscum contagiousm?
Molluscipox virus
What is the treatment for molluscum contagiousm?
Treatment is not usually recommended. If lesions are troublesome or considered unsightly, use simple trauma or cryotherapy, depending on the parents’ wishes and the child’s age:
Squeezing (with fingernails) or piercing (orange stick) lesions may be tried, following a bath. Treatment should be limited to a few lesions at one time
Cryotherapy may be used in older children or adults, if the healthcare professional is experienced in the procedure
Eczema or inflammation can develop around lesions prior to resolution. Treatment may be required if:
→ Itching is problematic; prescribe an emollient and a mild topical corticosteroid (e.g. hydrocortisone 1%)
→ The skin looks infected (e.g. oedema, crusting); prescribe a topical antibiotic (e.g. fusidic acid 2%)
What is the colour of viral warts?
SKin coloured
What causes viral skin warts?
- Common non-cancerous growths of the skin caused by infection with human papillomavirus (HPV)
- Sole foot – verruca
- Transmitted by direct skin
contact
Give examples of viral exanthems
- Chicken pox
- Measles
- Rubella
- Roseola (herpes virus 6)
- Erythema infectiosum (Parvovirus B19, slapped cheek )
What is the presentation of viral examnthems?
- Associated viral illnesses
- Common
- Fever, malaise, headache
Where does damage arise in viral exanthems?
•Either reaction to a toxin produced by the organism, damage to the skin by the organism, or an immune response.
How many times can you get chicken pox?
- One infection is thought to confer lifelong immunity.
- Immunocompromised individuals are susceptible to the virus at all times.
What is the presentation of chicken pox?
- Red papules (small bumps) progressing to vesicles (blisters) often start on the trunk.
- Itchy. Associated with viral symptoms
What is the incubation period of chicken pox?
10-21 days
When is chicken pox contagious?
1-2 days before rash appears and until lesions have crusted
What is the presentation of parovirus (slapped cheek)?
- Viral symptoms.
- Erythematous rash cheeks initially and then also
lace like network rash (trunk and limbs). Can take 6w to full fade.
What are potentiual complications of parovirus (slapped cheek)?
- Very rarely….
- Aplastic crisis (if haemolytic disorders)
- Risk to pregnant women (spontaneous abortion, intrauterine death, hydrops fetalis)
What organism causes hand foot and mouth disease?
- Usually Coxsackie virus A16
- (can also be due to Enterovirus 71 and other coxsackivirus types)
What is the presentation of hand foot and mouth disease?
•Blisters on the hands, feet and in the mouth. Viral symptoms.
What is the presentation of orofacial granulomatosis?
Lip swelling and fissuring
Oral mucosal lesions: ulcers and tages, cobblestone appearance
Crohn’s disease
What is the presentation of erythema nodosum?
- Painful, erythematous subcutaneous nodules
- Over Shins; sometimes other sites
•Slow resolution - like bruise,
6-8 weeks
What are potential causes of erythema nodosum?
- Infections – Streptococcus, Upper respiratory tract
- Inflammatory bowel disease
- Sarcoidosis
- Drugs – OCP, Sulphonamides, Penicillin
- Mycobacterial Infections
- Idiopathic
What skin condition is linked to dermatitis herpetiformis?
Coeliacs disease
What is the presentation of dermatitis Herpetiformis?
- Rare but persistent immunobullous disease that has been linked to coeliac disease
- Itchy blisters can appear in clusters
- Often symmetry
- Scalp, shoulders, buttocks, elbows and knees
What are the investigations for dermatitis herpetiformis?
- Detailed history
- Coeliac screening
- Skin biopsy
What is the treatment for dermatitis Herpetiformis?
•Emollients, gluten free diet, topical steroids, dapsone
What is the presentation of urticaria?
- Wheals/hives
- Associated angioedema (10%)
- Areas of rash can last from few minutes up to 24 hours
What is the definition of acute vs chronic urticaria?
Acute is less than 6 weeks
Chronic is more than 6 weeks
What are the causes of urticaria?
- Many causes:
- Viral infection
- Bacterial infection
- Food or drug allergy
- NSAIDS, OPIATES,
- Vaccinations
- Chronic urticaria – idiopathic often no cause found. Likely autoimmune cause.
What is the treatment for urticaria?
- Antihistamines
- Newer generation e.g desloratadine
- 3 x daily (off licence doses)
- Ranitidine
- Montelukast
- Omalizumab
- Ciclosporin
What is the artiology of congenital heart disease?
Genetic susceptibility (6-10% of all CHD have underlying chromosomal problems)
Teratogenic insult (18-60 days post ceonception)
Environmental factors( drgus such as alcohol cocaine, infections such as TORCH and others, maternal factors such as diabetesm SLE)
What heart defects are associated with trisomy 13?
VSD and ASD
What heart defects are assoiciated with trisomy 21?
multiple cardiac problems may be present
endocardial cushion defect (most common, 40%, also known as atrioventricular septal canal defects)
ventricular septal defect (c. 30%)
secundum atrial septal defect (c. 10%)
tetralogy of Fallot (c. 5%)
isolated patent ductus arteriosus (c. 5%)
What do the following conditions cause to happen to the heart?
Turner
Noonan
Williams
Turner = co-arctation of the aorta
Noonan = Pulmonary stenosis
Williams = supravalvular AS
What are the features of still’s murmur
(who is affected, where can you hear it, what type of murmur is it and when can you hear it best?)
Age 2-7 years
Soft systolic; vibratory, musical,”twangy”
Apex, left sternal border
Increases in supine position and with exercise
What are the features of pulmonary outflow murmur?
(who is affected, where can you hear it, what type of murmur is it and when can you hear it best?)
Age 8-10 years
Soft systolic; vibratory
Upper left sternal border, well localised, not radiating to back
Increases in supine position, with exercise
Often children with narrow chest
What are the features of carotid/brachiocephalic arterial bruits?
Age 2-10 years
1/6-2/6 systolic; harsh
Supraclavicular, radiates to neck
Increases with exercise, decreases on turning head or extending neck
What are the features of venous hum?
Age 3-8 years
Soft, indistinct
Continuous murmur, sometimes with diastolic accentuation
Supraclavicular
Only in upright position, disappears on lying down or when turning head
What are the main types of ventricular septal defects?
3 main types : - subaortic
- perimembranous
- muscular
L to R shunt
What is the clinical presentation of VSD?
Pansystolic murmur lower left sternal edge, sometimes with thrill
In very small VSDs, early systolic murmur
In very large VSDs diastolic rumble due to relative mitral stenosis
Signs of cardiac failure in large VSDs, eventually leading to biventricular hypertrophy and pulmonary hypertension
What is the core feature in Eisenmenger syndrome?
Eisenmenger syndrome occurs when the increased pressure of the blood flow in the lung becomes so great that the direction of blood flow through the shunt reverses. Oxygen-poor (blue) blood from the right side of the heart flows into the left side of the heart and is pumped to your body so you don’t receive enough oxygen to all your organs and tissues.
Results from intracardiac communication and causes cyanosis, pulmonary hypertensio and shunt reversal. Erythrocytosis also follows
What is used to close a VSD?
Amplatzer device
Patch closure
What is AVSD?
Singular AV valve with ostium primum ASD and high VSD
What is the presentation for pulmonary stenosis?
Asymptomatic in mild stenosis, in moderate and severe exertional dyspnoea and fatigue
Ejection systolic murmur upper left sternal border with radiation to back
What is the presentation of aortic stenosis?
Mostly asymptomatic, if severe, reduced exercise tolerance, exertional chest pain, syncope
Ejection systolic murmur upper right sternal border, radiation into carotids
What are changes in fetal circulation at birth?
Pulmonary Vascular Resistance Falls
Pulmonary Blood Flow Rises
Systemic Vascular Resistance is increased
Ductus Arteriosus Closes
Foramen Ovale Closes
Ductus Venosus Closes
What is the treatment for patent ductus arteriosus?
fluid restriction/
diuretics, prostaglandin inhibitors
(Indomethacin, Ibuprofen), surgical
ligation
In term babies good chance of spontaneous closure, not prostaglandin sensitive
What is the investigation for coarctation of the aorta?
MRI
What is the management of coarctation of the aorta?
Re-open PDA with Prostaglandin E1 or E2
Resection with end-to-end anastomosis
Subclavian patch repair
Balloon Aortoplasty
What are the 4 components of tetralogy of fallot?
ventricular septal defect (VSD)
right ventricular hypertrophy
right ventricular outflow tract obstruction, pulmonary stenosis
overriding aorta
What is the presentation of tetralogy of fallot?
cyanosis
causes a right-to-left shunt
ejection systolic murmur due to pulmonary stenosis (the VSD doesn’t usually cause a murmur)
a right-sided aortic arch is seen in 25% of patients
chest x-ray shows a ‘boot-shaped’ heart, ECG shows right ventricular hypertrophy
What is managementof tralogy of fallot?
surgical repair is often undertaken in two parts
cyanotic episodes may be helped by beta-blockers to reduce infundibular spasm
WHen is ALT/AST raised?
Elevated in hepatocellular damage (hepatitis)
When is alkaline phosphatase and gamma GT raised?
Elevated in biliary disease
What are tests to assess liver function?
•Coagulation
- •Prothrombin time (PT)/INR
- •APTT
- Albumin
- Bilirubin
- (Blood glucose)
- (Ammonia)
Here are the signs of liver disease in children
Why does jaundice happen?
Discolouration of the skin due to accumulatino of bilirubin
Where is infant jaundce most noticeable?
Sclera
What level of total bilirubin is recquired for jaundice?
•Usually visible when total bilirubin >40-50 umol/l
Here is bilirubin metabolism
Here is where pre-hepatic, hepatic and post hepatic hepatitis happens
What are the causes of early, intermediate and prolonged jaundice?
•Early (<24 hours old)
- Always pathological
- Causes: Haemolysis, Sepsis
•Intermediate (24hrs – 2 weeks)
•Causes: Physiological, Breast milk, Sepsis, Haemolysis
•Prolonged (>2 weeks)
•Causes: Extrahepatic obstruction, Neonatal hepatitis, Hypothyroidism, Breast milk
Why does physiological jaundice happen?
- Shorter RBC life span in infants (80-90 days)
- Relative polycythaemia
- Relative immaturity of liver function
What type of jaundice is physiological jaundice?
- Unconjugated jaundice
- Develops after first day of life
What type of jaundice is breast milk jaundice?
- Unconjugated jaundice
- Can persist up to 12 weeks
It is essentially an extension of physiological jaundice and the exact mechanism of action is unknown
What are causes of early/intermediate unconjugated infant jaundice?
- Sepsis
- Haemolysis
- •ABO incompatibility
- •Rhesus disease
- •Bruising/cephalhaematoma
- •Red cell membrane defects (e.g. spherocytosis)
- •Red cell enzyme defects (e.g. G6PD)
•(Abnormal conjugation)
- •Gilbert’s disease – common, mild
- •Crigler-Najjar syndrome – v. rare, severe
What are the tests for the following conditions?
- Sepsis
- Haemolysis
- •ABO incompatibility
- •Rhesus disease
- •Bruising/cephalhaematoma
- •Red cell membrane defects (e.g. spherocytosis)
- •Red cell enzyme defects (e.g. G6PD)
•(Abnormal conjugation)
- •Gilbert’s disease – common, mild
- •Crigler-Najjar syndrome – v. rare, severe
- Sepsis (urine + blood cultures, TORCH screen)
- Haemolysis
- ABO incompatibility (Blood group, DCT)
- Rhesus disease (Blood group, DCT)
- Bruising/cephalhaematoma (clinical examination)
- Red cell membrane defects (e.g. spherocytosis) (Blood film)
- Red cell enzyme defects (e.g. G6PD) (G6PD assay)
- (Abnormal conjugation)
- Gilbert’s disease (genotype/phenotype)
- Crigler-Najjar syndrome (genotype/phenotype)
What is kernicterus?
Deposits of bilirubin in the brain
- Unconjugated bilirubin is fat-soluble (water insoluble) so can cross blood-brain barrier
- Neurotoxic and deposits in brain
What are tearly signs of kernicterus?
•Early signs – encephalopathy – poor feeding, lethargy, seizures
What are the late consequences of kernicterus?
•Late consequences – severe choreoathetoid cerebral palsy, learning difficulties, sensorineural deafness
What is the treatment for kernicterus?
- Treatment for unconjugated jaundice
- Visible light (450nm wavelength) (not UV) converts bilirubin to water soluble isomer (photoisomerisation)
- Threshold for phototherapy in infants guided by charts
What are causes of prolonged infant jaundice?
Note: • Conjugated jaundice in infants is always abnormal and always requires further investigation
What is the most important test in prolonged jaundice?
Split bilirubin - determines if it is a prolonged / not-prolonged jaundice
What are the causes of biliary obstruction?
These cause prolonged jaundice that are conjugated
•Biliary atresia
- •Conjugated jaundice, pale stools
•Choledochal cyst
- •Conjugated jaundice, pale stools
•Alagille syndrome
- •Intrahepatic cholestasis, dysmorphism, congenital cardiac disease
Prolonged jaundice message 2:
• Always assess stool colour in infants with prolonged jaundice
What is the stool and urine like in biliary artresia?
Pale stools
dark urine
Where does the fibro-inflammatory effect of biliary artresia cause?
Obstruction of extra hepatic bile ducts
What is the surgical procedure for biliary artresia?
Intraoperative cholangiogram is the gold standard for confirming obstruction
Kasai portoenterostomy
Success rate diminishes rapidly with age
Best results if performed before 60 days (<9 weeks)
Potential medication - ursodeoxycholic acid
What are the tests for the following conditions?
- Biliary atresia
- Conjugated jaundice, pale stools
- Choledochal cyst
- Conjugated jaundice, pale stools
- Alagille syndrome
- Intrahepatic cholestasis, dysmorphism, congenital cardiac disease
•Biliary atresia
•(split bilirubin, stool colour, ultrasound, liver biopsy)
•Choledochal cyst
•(split bilirubin, stool colour, ultrasound)
•Alagille syndrome
•(dysmorphism, genotype)
What are causes of neonatal hepatitis?
Causes prolonged jaundice
- Alpha-1-antitrypsin deficiency
- Galactosaemia
- Tyrosinaemia
- Urea cycle defects
- Haemochromatosis
- Glycogen storage disorders
- Hypothyroidism
- Viral hepatitis
- Parenteral nutrition
What are the tests for the following conditions?
- Alpha-1-antitrypsin deficiency
- Galactosaemia
- Tyrosinaemia
- Urea cycle defects
- Haemochromatosis
- Glycogen storage disorders
- Hypothyroidism
- Viral hepatitis
- Parenteral nutrition
- Alpha-1-antitrypsin deficiency (phenotype/level)
- Galactosaemia (GAL-1-PUT)
- Tyrosinaemia (amino acid profile)
- Urea cycle defects (ammonia)
- Haemochromatosis (iron studies, liver biopsy)
- Glycogen storage disorders (biopsy)
- Hypothyroidism (TFTs)
- Viral hepatitis (serology, PCR)
Parenteral nutrition (history
What is the presentation of constipation?
Poor appetite
Irritable
Lack of energy
Abdominal pain or distension
Withholding or straining
Diarrhoea (this is what the symptom they present with)
Why do people become constipated?
Poor appetite
Irritable
Lack of energy
Abdominal pain or distension
Withholding or straining
Diarrhoea
What drugs make people constipated?
Opiates
Gaviscon
Why do children become constipated?
Social
- poor diet
- •Insufficient fluids
- •Excessive milk
- potty training / school toilet
Physical
- intercurrent illness
- medication
Family history
Psychological (secondary)
Organic
Constipation cylce
What is the treatment of constipation?
Dietary
- fibre
- fruit
- vegetables
- fluids
- milk
Psychological elements of therapy:
Reduce aversive factors
Make going to the toilet a pleasant experience
- Correct height
- Not cold
- School toilets
- Soften stool and remove pain
Avoid punitive behaviour from parents
Reward ‘good’ behaviour
General praise
Star charts
Soften stool and stimulate defecation:
- Osmotic laxitives (lactulose)
- Stimulant laxitives (senna, picolax)
- Isotonic laxitives (movicol)
Advantages - non-invasive, given by patients.
Disadvantages - non-compliance, side effects
What can be a complication of constipation?
Megarectum can press on bladder and urethra - can cause poor stream, incomplete voiding and can result in UTI’s
What is the treatment of impaction?
Empty impacted rectum
Empty colon
Maintain regular stool passage
Slow weaning off treatment
(can be movicol disimpaction) - can be messy though
Presentation of Crohn’s vs UC
Histopathology (crohn’s has granulomas)
Crohns has a massive effect of weight loss and growth failure in children.
UC has more diarrhoea and rectal bleeding
What are the laboratory investigations for IBD?
Laboratory investigations
Full blood count & ESR
- Anaemia
- Thrombocytosis
- Raised ESR
Biochemistry
•Stool calprotectin
- Raised CRP
- Low Albumin
Microbiology
•No stool pathogens
In crohn’s symptoms are not very strong, you should do tests at low threshold.
Who is pancolitis more likely to affect in UC, adults or children?
Children = 60%
Adults = 20%
What is the diagnosis of IBD?
Definitive investigations
Radiology (especially Crohn’s disease)
- MRI - recquires drinking a lot of water, so you can’t put them under GA. Asking a child to sit still for so long is really difficult to this is probably reserved for older children
- Barium meal and follow-through (younger kids)
Endoscopy
- Ileocolonoscopy
- Upper GI endoscopy
- Mucosal biopsy
- Capsule endoscopy
- Enteroscopy
What are the aims of treatment for IBD?
Induce and maintain remission
Correct nutritional deficiencies
Maintain normal growth and development
Methods of treatment of treatment for IBD
Medical
Anti-inflammatory
Immuno-suppressive
Biologicals ( Infliximab)
Nutritional
Immune modulation
Nutritional supplementation
Surgical
Lecture notes:
Crohn’s in childhood is managed by nutrition– child is given milkshakes.
UC – 5 aminosalycilate, distal can give rectal preparations, usually need course of oral corticosteroids. SE = greasy hair, weight gain and spots.
Azathioprine
Crohn’s – chance of disease coming back is really high 5ASA’s don’t work. Put them on azathioprine from the start.
Bottom-up treatment for Crohn’s disease =
Polymeric diet or oral prednisolone
Steroid sparing agents azathioprine/6MP or methotrexate
Biologicals (infliximab/adalibumab)
Surgery
How can you modify body language when talking to a baby/child?
Be friendy and smile
acknowledge child early on
Get down to their level
Utilise play
Ask age appropriate questions
Positioning of baby can be on parents lap
When do you start measuring height as opposed to length?
2 years of age
Why would yo umeasure sitting height?
If there is body disproportion
What bone age indicates that you have stopped growing?
14 years in girls
16 years in boys
What are assessment tools for child growth?
Height, lenght, weight
Growth charts and plotting
MPH and target centiles
Growth velocity Bone age
Pubertal assessment
What are common causes of short stature?
Familial
Constitutional
SGA/IUGR
What are pathological causes of short stature?
Undernutrition
Chronic ilness (JCA, IBD, Coeliac)
Iatrogenic (steoids)
Psychological and social
Hormonal (GHD, hypothyroidism)
Syndromes (Turner, P-W)
(turner is a spectrum of dysmorphia - you need to perform a karyotype)
What are hormone test for short stature?
IGF-1
GH stimulation test (given arginine or insulin growth factor?)
Why might MRI be useful in finding out the cause of short stature?
Look for abnormalities of the pituitary
What are the stages of puberty (tanner staging)?
- B (breast - for girls) 1-5
• G (genital development) 1-5
• PH (pubic hair) 1 to 5
• AH (axilary hair) 1 to 3
• T (2ml to 20ml)
• SO eg statement as B3 PH3 or G2 PH2 6/6
What are the cut offs for early and delayed puberty?
Boys
– early < 9 years (rare)
– delayed >14 (common, especially CDGP)
• Girl
– early <8 years
– delayed >13 (rare)
CDGP = constitutional delay in growth and puberty
What are causes of delayed puberty?
Gonadal dysgenesis (Turner 45X, Klinefelter 47XXY)
- Chronic disease (Crohn’s, asthma)
- Impaired HPG axis (septo-optic dysplasia, craniopharyngioma, Kallman’s syndrome)
- Peripheral (cryptorchidism, testicular irradiation)
What are the features of central precocious puberty?
Pubertal development
– Breast development in girls
– Testicular enlargement in boys
- Growth spurt
- Advanced bone age
What is the mainstage of management for central precocious puberty?
• Need to exclude pituitary lesion—- MRI
What are the featuers of precocious pseudopuberty?
Abnormal sex steroid hormone secretion
- Gonadotrophin independent (low/prepubertal levels of LH and FSH)
- Clinical picture: secondary sexual characteristics
What is the mainstay in investigation for precocious pseudopuberty / ambiguous genitalia
Need to exclude congenital adrenal hyperplasia
What is the management for ambiguous genitalia?
Do not guess the sex of the baby!
Multidisciplinary approach (paed endo, surg,
neonatologist, geneticist, psychologist)
Exam: gonads?/ internal organs
Karyotype
Exclude Congenital Adrenal Hyperplasia!- risk of adrenal crisis is first 2 weeks of life
What is the start of puberty in Tanner stages?
– Breast budding (Tanner Stage B 2) in a girl
– Testicular enlargement (Tanner Stage G2 -T 3- 4 ml) in boy
What are causes of congenital hypothyroidism?
Athyreosis / hypoplastic / ectopic
Dyshormonogenic
What is the most common cause of acquired hypothyroidism?
Hasimotos thyroiditis
What are child issues of acquired hypothyroidism?
Lack of eight gain
Pubertal delay (or precocity)
Poor school performance
What are the comlications of obesity in children?
Main ones:
- Gallstones
- PCOS
- Obstructuve sleep apnoea
- Atherosclerotic cardiocvascular disease
- non-alcoholic steatohepatitis
- SCFE
Metabolic syndrome
Fatty liver disease (nonalcoholic steatohepatitis)
Gallstones
Reproductive dysfunction (eg, PCOS)
Nutritional deficiencies
Thromboembolic disease
Pancreatitis
Central hypoventilation
Obstructive sleep apnea
Gastroesophageal reflux disease
Orthopaedic problems (slipped capital femoral epiphysis, tibia vara)
Stress incontinence
Injuries
Psychological
Left ventricular hypertrophy
Atherosclerotic cardiovascular disease
Right-sided heart failure
What are causes of obesity in children?
SIMPLE OBESITY
• Drugs
• Syndromes (would also have learning difficulties)
• Endocrine disorders (woul dhave growth failure)
• Hypothalamic damage (loss of appetite control)
What are the symptoms of diabetic ketoacidosis?
Nausea and vomitting
Abdominal pain
Sweet smelling breath
Drowsiness
Rapid deep signing respiration
Coma
What is the first thing you do when you suspect DKA?
Immediately test finger prick blood capillary glucose
Result >11mmol/l - Diabetes
Result <11mmol/l - Other cause
What should the weight be of a child in kilograms?
Wt (kg ) = 2 x (Age +4)
How do you calculate the blood volume of a child?
Blood Volume (mls) = 80mls/kg
What is urine output for a child?
0.5 -1 ml/kg/hour
How do you calculate insensible fluid loss in children?
20ml/kg/day
What shold systolic blood pressure be for a child?
80+ (2 x age)
Vital Signs
There was a large slide which made a point that children need analgesia at the earliest opportunity because it will make no difference in the diagnosis, makes them easier to examine and it also makes them more comfortable.
WHO pain management ladder
1 in 5 people don’t have the enzyme to metabolise codein
1 in 10-15000 have hella enzymes which makes the peak dose massive - can cause respiratory depression and even death.
Codein is a prodrug so we might as well give morphine
What is fluid managment for resuscitation?
20ml/kg bolus 0.9% NaCl
What is the fluid managemnt for maintenance fluid?
0.9% NaCl / 5% Dextrose +/- 0.15% KCl
4ml/kg 1st 10kg
2ml/kg 2nd 10 kg
1ml/kg every kg thereafter
10 yrs = 2 x (10+4) = 28kg = 40+20+8 = 68mls/hr
What are general red flags in a baby? (‘sentinel signs’)
Feed refusal
Bile vomits
Colour (sick babies tend to look grey - poorly perfused skin)
Tone (baby is normally quite active, floppy is a bad sign)
Temperature (Low temperature is more worrying than high temperature, high temperature is often jsut normal response to virus)
(green bile vomit is a bowel obstruction until proven otherwise - has to be green)
What is murphys triad for classical appendicitis?
pain
vomiting
fever
Classical appendicitis features tenderness over mcBurney’s point.
Where is McBurney’s point?
McBurney’s point is the name given to the point over the right side of the abdomen that is one-third of the distance from the anterior superior iliac spine to the umbilicus (navel). This point roughly corresponds to the most common location of the base of the appendix where it is attached to the cecum.
What are complications of appendicitis?
Abscess
Mass
Peritonitis
What are features of the pain in appendicitis?
Pain migrates from the centre to the right iliac fossa
Pain is worse on coughing or when going over speed bumps. Children can’t typically hop on their right leg due to the pain
What grade is the fever in appendicitis?
mild pyrexia is common - temperature is usually 37.5-38oC. Higher temperatures are more typical of conditions like mesenteric adenitis
What is the appetite like of someone with appendicitis?
anorexia is very common. It is very unusual for patients with appendicitis to be hungry
How is the diagnosis made of appendicitis?
Raised inflammatory markers with a compatiable history
To exclude pregnancy, renal colic and UTI a urine sample may also be taken, it might show mild leucocytosis but there shouldn’t be any nitrites
USS might be useful to exclude pelvic organ pathology, although the appendix can’t always be seen.
What is the management of appendicitis?
Laparoscopic surgery is the treatment of choice. Open surgery is an alternative
Pre-operative abx to reduce rates of wound infection
Perforated appendicitis requires abdominal lavage
Appendix mass is given broad spectrum abx and consideration is given to performaing an interval appendicectomy.
What are the features of non-specfic abdominal pain?
features:
short duration
central
constant
not made worse by movement
no GIT disturbance
no temperature
site & severity of tenderness vary
What are causes of abdominal pain in children?
Appendicitis
Mesenteric adenits (follows from a symtoms of a cold, high temperature)
Pneumonia (commonly in the right lower lobe - will have a soft abdomen, also has a high respiratory rate and a high CRP)
When does pyloric stenosis present?
In the first 4-16 weeks of life
Usually males (5:1 ratio)
FH is common
What are the features of pyloric stenosis?
Non-bilous vomiting - ‘projectile’
Weight loss
Cap gas (alkalosis, hypochloraemia, hypokalaemia)
What is the management of pyloric stenosis?
Test feed
IV fluid
(0. 45 N Saline/ 5% Dextrose + KCl
0. 9% Saline for NG loss)
US
Periumbilical pyloromyotomy
What is the diagnosis of a baby who presents with bile vomiting (MUST BE GREEN COLOUR)
Malrotation and volvulus
What is the investigation for malrotation?
Upper GI contrast study ASAP
What is management of malrotation volvulus?
Laparotomy ASAP
What is the diagnosis of a baby that is 6-12 months old
- 3 day history of viral ilness then intermittent colic and dying spells
- Bilious vomiting
4 seconds capillary refill
Bloody mucous PR (redcurrant jelly stool)
Dying spells are when the baby goes white and floppy
Intussusception
What is the investigtaion for intussesception?
USS abdomen
looking for a target sign - This is usually when the terminal ileum goes through the ileocecal valve. Bits of odematous bowel inside each other.
What is the management of intussusception?
pneumostatic reduction (air enema)
laparotomy
What increases the risk of umbilical hernia?
LBW
Trisomy 21
Hypothyroidism
Mucopolysaccharidosis
What is the management of umbilical hernia?
Normally self-resolves by the age of 4
Repair if there are compications
Peristance over 4 years, large defect, aesthetic
What is gastroschisis?
When all of the abdomen is born outside the body - abdominal wall defect. Gut is eviscerated and exposed
What is the condition called when there is a large abdominal defect, organs born outside the body but they are covered by viscera?
Exomphalos
What are the associated anomalies of exomphalos?
associated anomalies
25% cardiac
25% chromosomal - Trisomy 13, 18, 21
15% renal, neurological
Beckwith-Weideman syndrome
What is the management of exomphalos?
Primary/delayed closure
Who is most likely to get groin hernias?
Boys (2% of boys get them)
Boys are 9 times more likely to get a hernia than a girl
What type of hernia is most common?
Indirect
What increase the risk of hernias?
Prematurity
What is the main risk attached to hernias?
Incarceration - risk is especially high in children less than 1 year of age
What is the management of hernias?
management
< 1 year
URGENT referral
repair - no place for observation
> 1 year
elective referral and repair
incarcerated
reduce and repair on same admission
What is often contained in a female inguinal hernia?
Ovary
What are the features of hydrocele?
Scrotal swelling
Very common in newborns
Painless
Increase with crying, straining, evening
Bluish colour
Chinese lantern effect
What is the definition of cryptochidism?
testis that cannot be manipulates into the bottom half of the scrotum
What are the subclassifications of cryptorchidism?
true cryptorchidism
retractile
ectopic
(ascending testis)
Retractile = you can pull it down but it can also jump back up inside.
Ectopic – can be somewhere in the canal (superficial femoral pouch or somewhere on the other side)
Ascending – as they grow the cord doesn’t increase at the same rate – usualy normal but then 5 years later they are ascended.
What are the indications for orchidopexy?
fertility
1% loss germs cells / month undescent……
malignancy
- RR 3 x (probably intra-abdominal only)
- lifetime risk - <1%
trauma (increased likelihood of rupture of they are not within the scrotum)
torsion
cosmetic
What are the absolute and relative indications for circumcision?
Absolute: Balanitis Xerotica Obliterans
Relative:
- Balanitis prosthitis
- Religious
- UTI
(circumcision for UTI prevention is only really effective if there is an abnormal urinary tract that is predisposing the person to recurrent urinary tract infections
What are complications of circumcision?
Painful
Bleding
Meatal stenosis
Fistula
Cosmetic (looks different)
What is the differential doagnosis for acute scrotum?
Torsion of the testis (you have 6-8 hours to recover the testis from the onset of symptoms- if in doubt explore)
Torsion appendix testis
Epididymitits
Why is it important to investigate UTI?
Prevent renal scarring
Reflux nephropathy and chronic renal failure, prevent hypertension
Who gets investigated for UTI?
xall <6/12, atypical, recurrent
What is the definition of UTI?
pure growth bacteria > 105
pyuria
systemic upset
fever, vomiting
What are the possible assessments for UTI?
US (looking at the size, position, shape and for hydronephrosis)
Renography:
- MAG3 - drainage, function, reflux
- DMSA - function, scarring
Micturating cystourethrogram (MCUG) (this is good for showing reflux but it is a really uncomfortable test for a child
What is the management of vesicoureteric reflux?
conservative
- voiding advice, constipation (you want to avoid constiaption), fluids
antibiotic prophylaxis
- ? until age 4
- Trimethoprim (2mg/kg nocte)
STING (submucosal teflon injection)
- mild/moderate with symptoms
ureteric reimplantation
Where is the most likely place for hypospadias?
What are the assocaited anomalies with hypospadias?
Upper tract
Intersex
What is the management of hypospadias?
Do not circumsize
One stage or 2 stage procedure
What is the name of the bend of the penis assocaited with hypospadias?
Chordee
What are the functional aspects of a childs development?
Motor
Language
Cognitive
Social
Emotional
Significant delay of skills is when they are 2SD from population
What is global developmental delay?
when 2 or more domains are affected
What is learning disability?
A learning disability is a significant impairment in intellectual functioning and affects the person’s ability to learn and problem-solve in their daily life.It has nearly always been present since childhood.
What are primary care assessment tools for developmental delay/learning dofficulties?
ASQ (ages and stages questionnaire)
PEDS (Parents evaluation of developmental status)
M-CHAT (Checklist for autism in toddlers)
SOGS-2 (Schedule of Growing Skills)
Quantification of developmental abnormalities?
All areas of development are age appropriate
Delay: Global or isolated
Disorder: Abnormal progression and presentation eg Autism
Regression: loss of milestones
What are the facial features of williams?
Broad forehead
Medial eyebrow flare
Strabismus
Flat nasal bridge
Malar flattening
Short nose, long philtrum
Full lips
Wide mouth
What are red flag signs for learning difficulties?
Learning Guide developmental red flags:
- Social smile by two months
- Sitting unsupported at 9 months
- Standing unsupported at 18 months
- No words by 2 years
Positive:
Loss of developmental skills
Concerns re vision
Concerns re hearing
Floppiness
No speech by 18-24 months
Asymmetry of movement
Persistent toe walking
Head circumference >99.6th C or < 0.4th C
Negative:
Sit unsupported by 12 months
Walk by 18months (boys) or 2 years (girls): Check creatinine kinase
Walk other than on tiptoes
Run by 2.5 years
Hold objects in hand by 5 months
Reach for objects by 6 months
Points to objects to share interest by 2 years
What are investigations for learning difficulties?
Based on clinical abnormalities
Diagnostic yield of specific tests
Timing
Genetic testing: chromosomal analysis, Fragile X, FISH, array CGH
Creatine kinase
Thyroid screening
Metabolic testing: amino and organic acids,NH4,Lactate.
Ophthalmological examination
Audiology assessment
Consider congenital infection
Neuroimaging
What are common motor probems in children?
Delayed maturation
Cerebral palsy
Developmental coordination disorder
What are the possible manifestations of cerebral palsy?
abnormal tone early infancy
delayed motor milestones
abnormal gait
feeding difficulties
What are common sensory problems?
deafness
visual impairment
Multisensory impairment
What are the language and cognitive problems?
Specific Language Impairment
Learning Disability
What are common problems of social / communication
Autism
Asperger syndrome
Elective mutism
What is the purpose of investigating developmental problems?
The family gains understanding of the condition, including prognostic information
Lessens parental blame
Ameliorates or prevents co-morbidity by identifying factors likely to cause secondary disability that are potentially preventable
Appropriate genetic counselling
Accessing more support
Address concerns about possible causes e.g. events during pregnancy or delivery
Potential treatment for a few conditions
What are the multidisciplinary teams for developmental issues?
Developmental paediatrician
Speech and Language therapist
OT/ PT: functional impairments and strengths
Psychologist
Social worker
Geneticist
What are additional support needs?
A child or young person is said to have ‘additional support needs’ if they need additional support with their education.
Additional support can mean any kind of educational provision that is more than, or very different from, the education that is normally provided in mainstream schools
What are local services for developmental problems?
Community paediatrics clinics
Child development teams
Multidisciplinary assessment
Therapy services
Why might a child need additional support?
Difficulties with mainstream approaches to learning
Disability or health needs, such as motor or sensory impairment, learning difficulties or autistic spectrum disorder.
Family circumstances e.g. young people who are carers or parents.
What is personal learning planning?
Personal learning planning (PLP) is a way of thinking about, talking about and planning what and how a child learns. It’s also a way of assessing their progress and acting on the results of that assessment.
So this means deciding how a child learns and evaluating on the go.
What is individualised educational plane?
lIEP is a detailed plan for a child’s learning. It contains some specific, short-term learning targets for the child and will set out how those targets will be reached. Targets are:
l Specific ● Measurable ● Achievable ● Relevant
● Timed.
In some areas these plans are called additional support plans or individual support plans.
Not legal documents.
This is essentially just SMART goals
What is the legal document that outlines a childs supprt plan?
CSP - coordinated support plan.
A CSP is a detailed plan of how child’s support will be provided. It is a legal document and aims to ensure all the professionals who are helping the child, work together. It also helps ensure that everyone, including parents and the child, is fully involved in that support.
For children in local authority school education and needing significant additional support.
Complex or multiple needs
Needs likely to continue > 1 year
Support required by > 1 agency.
The parents’ guide to additional support for learning, Enquire (2016)
Why might a child need a childs plan?
If they need extra support
Access to mental health services
Access to respite care
This is part of the children and young people act
Part of the GIFREC approach (getting it right for every child)
What is contained in the childs plan?
Why they need support
What type of support they need
How long they need support for
Who should provide the support
May include IEP or a CSP
Why do children get more easily cold, dehydrated and hypoglycaemic?
Increase area : volume ration
Deceased water content
Decrease metabolic reserves
What is the most common form of hypoglycaemia in a child between 18 months -5 years of age?
Ketotic hypoglycaemia
What is the pulse rates, rr and bp in a child?
BP increase
RR increase
Lower BP
Why is the MMR and the pheumococcal vaccine only given at 12 months
Baby immune system is not fully developed
From 4 months to 5 years - lots of recurrent infections (before 4 months you are leaching off the immunoglobulins from the mother
Why is chicken pox a good example of intact immune function?
Requires both humeral and cellular immunity
What conditions occur in children but not in adults?
- Abdominal migraine
- Bronchiolitis
- Bronchopulmonary dysplasia
- Croup
- Enuresis
- Febrile convulsion
- Glue ear
- Intraventricular haemorrhage
- Necrotising enterocolitis
- Non accidental injury
- Sudden unexplained death of infants
- Toddler’s diarrhoea
- Vesico-ureteric reflux
- Viral induced wheeze
Chronic conditions with childhood onset
- Asthma (COPD)
- Autism
- Cerebral palsy
- Cystic fibrosis
- Gastroschisis
- Hirschsprungs disease
- Spina bifida
What is the main differential for febrile convulsions?
Meningitis
Neorological examination in childhood
- Opportunistic approach and observation skills
- Appearance
- Gait
- Head size
- Skin findings
- Real world examination (depends on age)
- Synthesis of history and clinical findings into a differential diagnosis and investigation plan
Observation is really important before you even do any ‘examination’
Which of these headaches are more likely to have a cause
Isolated acute
Recurrent acute
Chronic progressive
Chronic non-progressive
Isolated acture
Chronic progressive
Chronic non-progressive is likely to be tension type
What are the parts of headache examination?
- Growth parameters, OFC, BP (Craniopharyngioma may affect growth)
- Sinuses, teeth, visual acuity
- Fundoscopy (papilloedema)
- Visual fields (craniopharyngioma)
- Cranial bruit
- Focal neurological signs
- Cognitive and emotional status
- The diagnosis of headache etiology is clinical
What are pointers to childhood migraine?
- Associated abdominal pain, nausea, vomiting
- Focal symptoms/ signs before, during, after attack: Visual disturbance, paresthesia, weakness
- ‘Pallor’
- Aggravated by bright light/ noise
- Relation to fatigue/ stress
- Helped by sleep/ rest/ dark, quiet room
- Family history often positive
Migraine vs Tension headache
- Hemicranial pain
- Throbbing/ pulsatile
- Abdo pain, nausea, vomiting
- Relieved by rest
- Photophobia/ phonophobia
- Visual, sensory, motor aura
- Positive family history
Tension:
- Diffuse, symmetrical
- Band-like distribution
- Present most of the time (but there may be symptom free periods)
- “Constant ache”
What are the red flags for raised intracranial pressure?
- Aggravated by activities that raise ICP eg. Coughing, straining at stool, bending
- Woken from sleep with headache
What are the features of analgesic overuse headache?
- Headache is back before allowed to use another dose
- Paracetamol/ NSAIDs
- Particular problem with compound analgesics eg. Cocodamol
What are indications for neuroimaging?
- Features of cerebellar dysfunction
- Features of raised intracranial pressure
- New focal neurological deficit eg. new squint
- Seizures, esp focal
- Personality change
- Unexplained deterioration of school work
What is managment of migraine?
- Acute attack: effective pian relief, triptans
- Preventative (at least 1/week): Pizotifen, Propranolol, Amitryptyline, Topiramate, Valproate
What is the managment of tension type headaches
- Aim at reassurance: no sinister cause
- Multidisciplinary management
- Attention to underlying chronic physical, psychological or emotional problems
- Acute attacks: simple analgesia
- Prevention: Amitryptiline
- Discourage analgesics in chronic TTH
What causes seizures?
•An abnormal excessive hyper synchronous discharge from a group of (cortical) neurons
How is epilepsy diagnosed?
- Epilepsy: A tendency to recurrent, unprovoked (spontaneous) epileptic seizures
- A question that must be answered clinically, with recourse to EEG only for supportive evidence
- A seizure is not necessarily epileptic
- Consequences of misdiagnosis of epilepsy can be serious
What are types of non-epileptic seizures?
- Acute symptomatic seizures: due to acute insults eg. Hypoxia-ischaemia, hypoglycemia, infection, trauma
- Reflex anoxic seizure: common in toddlers
- Syncope
- Parasomnias eg. night terrors
- Behavioural stereotypies (this can include rocking and head banging)
- Psychogenic seizures (NEAD) (non epileptic attack disorder)
What is the commonest cause of acute symptomaitc seizure?
Febrile convulsion
What are the featues of febrile convulsion?
•An event occurring in infancy/ childhood, usually between 3 months and 5 years of age, associated with fever but without evidence of intracranial infection or defined cause for the seizure
Seizure types worth reading about
- Distinguishing seizure types can be challenging
- Jerk/ shake: clonic, myoclonic, spasms
- Stiff: usually a tonic seizure
- Fall: Atonic/ tonic/ myoclonic
- Vacant attack: absence, complex partial seizure
What are the chemical triggers for epileptic fits?
- Decreased inhibition (gama-amino-butyric acid, GABA)
- Excessive excitation (glutamate and aspartate)
- Excessive influx of Na and Ca ions
What is the difference between focal seizure and generalised seizure?
Both hemispheres are involved in a generalised seizure
What is the sensitivity of interictal EEG? this is an EEG when there is no seizure activity going on?
30-60% - this is because you might not pick up any epileptic discharge - you can also get false positives
•Useful in identifying seizure types, seizure syndrome and etiology
Why is ECG indicated in febrile convulsions?
arryythmia may be causing hypoxia which caused the seizure
What is the diagnosis of epilepsey?
- History
- Video recording of event
- ECG in convulsive seizures
- Interictal/ ictal EEG
- MRI Brain: to determine etiology eg. Brain malformations/ brain damage
- Genetics: idiopathic epilepsies are mostly familial; also single gene disorders eg. Tuberous sclerosis
- Metabolic tests: esp if associated with developmental delay/ regression
What is the managment of epilepsy in children?
- Anti-epileptic drugs (AED) should only be considered if diagnosis is clear even if this means delaying treatment
- Role of AED is to control seizures, not cure the epilepsy
- Start with one AED: slow upward titration until side-effects manifest or drug is considered to be inefficient.
- Age, gender, type of seizures and epilepsy should be considered in selecting AEDs
- S/Es: CNS related can be detrimental; Drowsiness, effect on learning, cognition and behavioural
- Sodium Valproate: first line for generalised epilepsies (not in girls- recent MHRA advice)
- Carbamazepine: first line for focal epilepsies
- Several new AEDs with more tolerability and fewer side effects: Levatiracetam, Lamotrigine, Perampanel
- Other therapies: steroids, immunoglobulins and ketogenic diet (mostly for resistant epilepsies)
Vagal nerve stimulator - implantable device that releases electrical signals into the vagus nerve - breaks the epileptic activity i nthe seizure - it is something you can activate when there is a seizure actually happening.
Epilepsey surgery (mesial temporal lobe epilepsy - surgery can be curative)
When should you suspect NM disorder?
- Baby ‘floppy’ from birth
- Slips from hands
- Paucity of limb movements
- Alert, but less motor activity
- Delayed motor milestones
- Able to walk but frequent falls
What is the test that demonstrates pelvic gurdle weakness
Gowers sign
Signs of general NM disorders
What is difficulty in relaxing muscles called?
Myotonia
What is the sign associated with charcot-marie-tooth disorder?
Pescavus
High foot arch
What are conditions of the NM junction?
Myaesthenic syndromes
What are disorders of the anterior horn cell?
Spinal muscular atrophy (motor neurones)
What are the differences between neuropathy and myopathy?
What gene is affected in Duchenne Muscular Dystrophy?
Xp21, dystrophin gene
What are the features of Duchenne Muscular Dystrophy?
•Symmetrical proximal weakness
Waddling gait, calf hypertrophy
Gower’s sign positive
Cardiomyopathy
Respiratory involvement in teens
Steroids are the mainstay of treatment
What are blood test would be useful in the diangosis of DMD?
Creatinine kinase
Developing prefrontal cortex
What are the most common adolescent death?
Suicide
Non-intentional injuries and poisoning
Road traffic accident
Examples of poor managment of health in adolescence
- Highest graft failure rates
- ~35% lose kidney
- 1.8 times the rate of people <17 and >24 years
- Substantial costs to individuals & NHS
- Deterioration in HbA1c in diabetes
- Associated with lasting complications (e.g., cardiovascular disease, neuropathjy, retinopathy).
- Consistent across medical conditions
This is because:
- Different priorities
- Different thought processes/ability to process long term outcomes
What is the HEADSS history taking model for adolescents?
- HEADSS
- Home
- Education (or Employment)
- Activities
- Drugs/Alcohol
- Sexuality
- Suicide/Self Harm
What is the paediatric / adult services age cut off?
16 years
What are the most common cancers in children?
Leukaemias (most common)
Braintumours
What genetic syndromes can predispose to cancer?
- Down
- Fanconi
- BWS
- Li-Fraumeni Familial Cancer Syndrome
- Neurofibromatosis
What aspects of environment can predispose to cancer?
Radiation
Infection (ebstein barr virus can lead to lymphoma, Papilloma virus)
Potential cancer symptoms in children
What are the side effects of chemotherapy?
´Acute
- Hair loss
- Nausea & vomiting
- Mucositis
- Diarrhoea / constipation
- Bone marrow suppression – anaemia, bleeding, infection
´Chronic
- Organ impairment – kidneys, heart, nerves, ears
- Reduced fertility
- Second cancer
What are the side effects of radiotherapy?
´Acute
- Lethargy
- Skin irritation
- Swelling
- Organ inflammation – bowel, lungs
´Chronic
- Fibrosis / scarring
- Second cancer
- Reduced fertility
What are risks for sepsis/febrile neutropenia?
´Risks
´ANC < 0.5 x 109
´Indwelling catheter
´Mucosal inflammation
´High dose chemo / SCT
Typs of infection :
´Pseudomonas aeruginosa
´Enterobacteriaciae eg E coli, Klebsiella
´Streptococcus pneumoniae
´Enterococci
´Staphylococcus
´Fungi eg. Candida, Aspergillus
What is the presentation of sepsis/febrile neutropenia?
´Fever (or low temp)
´Rigors
´Drowsiness
´Shock
´Tachycardia, tachypnoea, hypotension, prolonged capillary refill time, reduced UO, metabolic acidosis
Management of infection in neutropenia
IV access
Blood culture, FBC, coag, UE, LFTs, CRP, lactact
CXR
Other
◦Urine microscopy / culture
◦Throat swab
◦Sputum culture / BAL
◦LP
◦Viral PCRs
◦CT / USS
ABC
◦Oxygen
◦Fluids
Broad spectrum antibiotics
Inotropes
PICU
What is the presentation of raised ICP?
Early
- early morning headache/vomiting
- tense fontanelle
- increasing HC (hydrcephalus)
Late
- constant headache
- papilloedema
- diplopia (VI palsy)
- Loss of upgaze
- neck stiffness
- status epilepticus,
- reduced GCS
- Cushings triad (low HR, high BP)
What is investigation for raised intracranial pressure?
- Imaging is mandatory (if safe)
- CT is good for screening
- MRI is best for more accurate diagnosis
What is management of raised intracranial pressure?
- Dexamethasone if due to tumour
- Reduce oedema and increase CSF flow
- 250 micro/kg IV STAT then 125 microg/kg BD
- Neurosurgery - urgent CSF diversion
- Ventriculostomy – hole in membrane at base of 3rd ventricle with endoscope
- EVD (temporary)
- VP shunt
What are potential causes of spinal cord compression?
- Potential complication of nearly all paediatric malignancies
- Affects 5 % of all children with cancer
- 10-20 % Ewing’s or Medulloblastoma
- 5-10 % Neuroblastoma & Germ cell tumour
- Diagnosis (65 %), relapse, progression
- Pathological processes
- Invasion from paravertebral disease via intervertebral foramina (40 % extradural)
- Vertebral body compression (30 %)
- CSF seeding (20 % intradural, extraspinal)
- Direct invasion (10 % intraspinal)
What is the presentation of spinal cord compression?
- Symptoms vary with level
- weakness (90 %)
- pain (55-95 %)
- sensory (10-55%)
- sphincter disturbance (10-35%)
What is managment of spinal cord compression?
´Urgent MRI
´Start dexamethasone urgently to reduce peri-tumour oedema
´Definitive treatment with chemotherapy is appropriate when rapid response is expected
´Surgery or radiotherapy are other options
´
´Outcome depends on severity of impairment rather than duration between symptoms and diagnosis
´Mild impairment > 90 % recovery
´Paraplegic 65 % recovery
What are common causes of superior vena cava syndrome or superior mediastinal syndrome?
- Lymphoma
- Other – neuroblastoma, germ cell tumour, thrombosis
What is the presentation of SMS / SVC syndrome?
- SVCS: facial, neck and upper thoracic plethora, oedema, cyanosis, distended veins, ill, anxious, reduced GCS
- SMS: dyspnoea, tachypnoea, cough, wheeze, stridor, orthopnoea
Plethora = large or excessive amount of swelling
What are the invstgations for SVC/SMS syndrome?
- Investigation
- CXR / CT chest (if able to tolerate)
- Echo
What is management of SVC/SMS syndrome?
- Keep upright & calm
- Urgent biopsy (ideally)
- Look to obtain important diagnostic information without GA
- FBC, BM, pleural aspirate, GCT markers
- Definitive treatment is required urgently
- Chemotherapy is usually rapidly effective
- Presumptive treatment may be needed in the absence of a definitive histological diagnosis (steroids)
- Radiotherapy is effective
- May cause initial increased respiratory distress
- Rarely surgery if insensitive
- CVAD-associated thrombosis should be treated by thrombolytic therapy
- Most of underlying malignancies have a good prognosis
What are the stages of tumour lysis syndromes?
- Metabolic derangement
- Rapid death of Tumour Cells
- Release of intracellular contents
- At or shortly after presentation
- Secondary to treatment
- (rarely spontaneous)
What are clinical features of tumour lysis syndrome?
- increase potassium
- increase urate, relatively insoluble
- increase phosphate
- decrease calcium
- Acute renal failure
- Urate load
- CaPO4 deposition in renal tubules
What is the treatment of tumour lysis syndrome?
- Avoidance
- ECG Monitoring
- Hyperhydrate-2.5l/m2
- QDS electrolytes
- Diuresis
- Never give potassium
- ¯ uric acid
- Urate Oxidase-uricozyme (rasburicase)
- Allopurinol
- Treat hyperkalaemia
- Ca Resonium
- Salbutamol
- Insulin
- Renal replacement therapy
Normal Child Values
Average weekly weight gain
0-3months 200g
3-6 months 150g
6-9 months 100g
9-12 months 75-50g
Doubl weight by 6 months and triple by one year
After 1 year approximately 2 kg and 5 cm per year until puberty
What makes breast milk good?
Nutritionally best for full term babies
Well tolerated
Less allergenic
Low renal solute load
Ca:PO4, LCP FAs
Improves cognitive development
Reduces infection
Macrophages and lymphocytes
Interferon, lactoferrin, lysozyme
Bifidus factor
What is in the UNICEF baby friendly ten steps?
- Have a written breast-feeding policy- routinely communicated to all staff.
- Train all health care staff in skills necessary to implement this policy.
- Inform all pregnant women about the benefits/management of breastfeeding.
- Help mothers initiate breastfeeding within a half-hour of birth.
- Show mothers how to breastfeed, and how to maintain lactation even if they should be separated from their infants.
- Give newborn infants no food and drink other than breast milk, unless medically indicated.
- Practise rooming-in - allow mothers+ infants to remain together - 24h/day
- Encourage breast-feeding on demand.
- Give no teats or dummies to breastfeeding infants.
- Foster the establishment of breast-feeding support groups and refer mothers to them on discharge from the hospital or clinic.
How long is milk only diet used for infants?
Milk is the exclusive feed for 4-6 months
What is the presentation of cows milk protein allergy?
1 in 20 under 2’s will react to a food
Cows’ milk most commonly.
Majority are delayed, non IgE reactions
eg vomiting, diarrhoea, abdominal discomfort/ distension,eczema
Only test is trial of CMP exclusion (skin testing has to be IgE mediated)
How do we reintroduce cows milk?
4 week trial of milk avoidance
Special formula or milk free diet for breast feeding mums
Reintroduction at 4 weeks unless clear benefit
Re challenge after 6 months of improvement
Milk ladder approach
Not all forms of milk equally allergenic
Helps achieve earlier tolerance
60-70% on normal diet by 1 year
What is first line feed choice for cows milk protein allergy?
Extensively hydrolysed protein feeds
Second line feeds are amino acid based feeds - (babies with severe collitis, enteropathy / symptoms on breast milk)
What is secondary lactose intolerance?
Short lived condition eg post gastro enteritis
Confused with cows milk protein intolerance
Lactose free milks are not CMP free
What are soya indications?
Milk allergy when hydrolysed formulae refused
Vegan families, if not breast fed
Consider for children>1 year still on milk free diet
When does weaning start?
6 months
What is the purpose of weaning?
Why wean?
Milk alone is inadequate
Source of vitamins and trace elements
Man is an omnivore
Encourage tongue and jaw movements in preparation for speech and social interaction
What are the risk factors for vitamin D deficiency?
Vitamin D (we still see rickets)
Dark skinned children not on vitamin drops at risk
Prolonged breast feeding and mum not on Vit D
What are the three phases of vomiting?
•Pre-ejection phase
- Pallor
- Nausea
- Tachycardia
•Ejection Phase
- Retch
- Vomit
•Post-ejection Phase
What can stimulate the vomitting centre?
- Enteric pathogens
- Intestinal inflammation
- Metabolic derangement
- Infection
- Head injury
- Visual stimuli
- Middle ear stimuli
What is the effect on the baby of vomitting a lot?
Metabolic alkalosis?
High pH
Low potassium
Low chlorine
What are differentials for quick vomitting after feeding?
Gastroesophageal reflux
Overfeeding
Pyloric stenosis
What are the features of pyloric stenosis?
- Babies 4-12 weeks
- Boys > Girls
- Projectile non-bilious vomiting
- Weight loss
- Dehydration +/- shock
- Characteristic electrolyte disturbance:
–Metabolic alkalosis (↑pH)
–Hypochloraemia (↓Cl)
–Hypokalaemia (↓K)
What are the causes of bilious vomitting?
- Should always ring alarm bells
- Due to intestinal obstruction until proved otherwise
- Causes
Intestinal atresia (in newborn babies only)
Malrotation +/- volvulus
Intussusception
Ileus
Crohn’s disease with strictures
What are the investigations for bilious vomitting?
Abdominal x-ray
Consider contrast meal
Surgical opinion re exploratory laparotomy
What are the causes of effortless vomitting?
- This is almost always due to gastro-oesophageal reflux
- Very common problem in infants
- Self limiting and resolves spontaneously in the vast majority of cases
- A few exceptions:
–Cerebral palsy
–Progressive neurological problems
–Oesophageal atresia +/- TOF operated
–Generalised GI motility problem
What are the presenting symptoms for gastro oeseophageal reflux?
•Gastrointestinal
–Vomiting
–Haematemesis
•Nutritional
–Feeding problems
–Failure to thrive
•Respiratory
–Apnoea
–Cough
–Wheeze
–Chest infections
•Neurological
–Sandifer’s syndrome
Sandifer’s syndrome is the association of gastro-oesophageal reflux disease with spastic torticollis and dystonic body movements. Nodding and rotation of the head, neck extension, gurgling sounds, writhing movements of the limbs, and severe hypotonia have been reported. It is hypothesised that such positionings provide relief from discomfort caused by acid reflux. A causal relation between gastro-oesophageal reflux disease and the neurological manifestations of Sandifer’s syndrome is supported by the resolution of the manifestations on successful treatment of gastro-oesophageal reflux disease. The clinical manifestations almost invariably arouse the suspicion of neurological disease and lead to unnecessary investigative procedures.
What is involved in medical assessment of GO reflux?
- History & examination often sufficient
- Radiological investigations
–Video fluoroscopy
–Barium swallow
- pH study
- Oesophageal impedance monitoring
- Endoscopy
Aims vs problems of barium swallow
•Barium swallow
–Aims:
- Dysmotility
- Hiatus hernia
- Reflux
- Gastric emptying
- strictures
–Problems:
•Aspiration
Inadequate contrast taken (NG tube)
Summary of G/O reflux investigations
What is feeding advice for O/E reflux?
- Thickeners for liquids
- Appropriateness of foods
–Texture
–Amount
•Behavioural programme
–Oral stimulation
–Removal of aversive stimuli
•Feeding position
Nutritional support for G/O reflux?
- Calorie supplements
- Exclusion diet (milk free)
- Nasogastric tube
- Gastrostomy
What is the medical treatment for G/O reflux?
•Feed thickener
Gaviscon
Thick & Easy
- Prokinetic drugs
- Acid suppressing drugs
H2 receptor blockers
Proton pump inhibitors
What are indications for surgery woth G/O reflux?
•Failure of medical treatment
–Persistent:
- Failure to thrive
- Aspiration
- Oesophagitis
What is the surgical procedure for G/O reflux?
Nissen fundoplication
What are the complications for nissen funcoplication?
•Children with cerebral palsy are more likely to have complications of bloat, dumping and retching after surgery
Dumping syndrome - rapid gastric emptying leading to unpleasant symptoms such as intermittent sweating and diarrhoea following meals
What is the definition of chronic diarrhoea?
–4 or more stools per day
–For more than 4 weeks
–<1 week: acute diarrhoea
–2 to 4 weeks: persistent diarrhoea
–>4 weeks: chronic diarrhoea
What are causes of diarrhoea?
•Motility disturbance
- Toddler Diarrhoea
- Irritable Bowel Syndrome
•Active secretion (secretory)
- Acute Infective Diarrhoea*
- Inflammatory Bowel Disease
•Malabsorption of nutrients (osmotic)
- Food Allergy*
- Coeliac Disease*
- Cystic Fibrosis
What causes osmotic diarrhoea?
Movement of water into the bowel to equilibrate osmotic gradient
Usually a feature of malabsorption (enzymatic defect, transport defect)
Mechanism of action of lactulose / movicol
What casues secretory diarrhoea?
Toxin production from Vibrio cholerae and enterotoxigenic escherichiea coli
Intestinal fluid secretion predominantly driven by active Cl- secretion via CFTR
What are causes of motility related diarrhoea?
Toddler’s diarrhoea
Irritable bowel syndrome
Congenital hyperthyroidism
Chronic intestinal pseudo-obstruction
What is the mechanism of motility related diarrhoea?
secretory effect of cytokines
Accelerated transit time in response to inflammation
Protein exudate across inflamed epithelium
Differences between osmotic and secretory diarrhoea
How does pancreatic disease change stool?
Lack of lipase and resultant steatorrhoea
Classically cystic fibrosis
What is the presentation of coeliacs disease?
- Abdominal bloatedness
- Diarrhoea
- Failure to thrive
- Short stature
- Constipation
- Tiredness
- Dermatitis herpatiformis
What are the screening tests for coeliacs?
•Serological Screens
–Anti-tissue transglutaminase
–Anti-endomysial
–Anti-gliadin (not really tested anymore)
–Concurrent IgA deficiency in 2% may result in false negatives
- Gold standard- duodenal biopsy (lymphocytic infiltration of surface epithelium, partial / total villous atrophy, crypt hyperplasia
- Genetic testing
- HLA DQ2, DQ8
When can you diagnose someone with coeliacs without biopsy?
- Symptomatic children
- Anti TTG >10 times upper limit of normal
- Positive anti endomysial antibodies
- HLA DQ2, DQ8 positive
What is the treatment of coeliacs disease?
- Gluten-free diet for life
- Gluten must not be removed prior to diagnosis as serological and histological features will resolve
- In very young <2yrs, re-challenge and re-biopsy may be warranted
- Increased risk of rare small bowel lymphoma in untreated
What can rhinitis be a prodrome for?
- Pneumonia, bronchiolitis
- Meningitis
- Septicaemia
Rhinitis is more common in winter months
How long does runny nose tend to last?
usually no longer than 14 days
What is the appearance of otitis media on children?
Drum no longer transparent and shiny
Eardrum is being pushed forward by pus – about to burst
How long does otitis media last for?
Normally lasts less than 7 days
What is the course of otitis media?
Usualy self-limiting - secondary infection with pneumococcus / H’flu
The primary infection is viral
Can cause spontaneous rupture of the eardrum
(antibiotic treatment does not usuall help, causes side effects and condition is usually getting better by the time antibiotics usually start working)
What is the treatment of otitis media?
oxidation
nutrition
hydration
Analgesia
Croup vs Epiglottitis
oxygenation, hydration are rubbish in epiglottitis because they are usually septic
What is the duration of croup?
2/3 days
- URTIs are very common in children
- >99% URTIs are self-limiting (don’t say “viral”)
- Antibiotics do not usually help
- Understand what is normal
- If in doubt, review
What are the common agents for LRTI?
•Bacterial overgrowth
–Strep pneumoniae, Haemophilus influenzae, Moraxella catarrhalis, Mycoplasma pneumoniae, Chlamydia pneumoniae
•Viral infection
–RSV, parainfluenza III, influenza A and B, adenovirus, rhinovirus
What are the featues of bronchitis?
- Common ++++
- Loose rattly cough
- Post-tussive vomit - “glut”
- Chest free of wheeze/creps
Child is very well but the parent is very worried
Usually in children between 6 months and 4 years
Goes on for a very long time
What are the infective agents for bronchitis
Haemophilus / pneumococcus
What is the mechanism of bacterial bronchitis?
•Disturbed mucociliary clearance
–Minor airway malacia
–RSV/adenovirus
- Lack of social inhibition!
- Bacterial overgrowth is secondary
What are red flags for bronchitis?
- Age <6 mo, >4yr
- Static weight
- Disrupts child’s life
- Associated SOB (when not coughing)
- Acute admission
- Other co-morbidities (neuro/gastro)
What is the duration of cough in bronchitis?
Usually between 7 days and 25 days
What is usualy the infective organism of bronchiolitis?
•Usually RSV, others include paraflu III, HMPV
What is the presentation of bronchiolitis?
- Nasal stuffiness, tachypnoea, poor feeding
- Crackles +/- wheeze
When is RSV most common?
Christmas time (week 51)
What are big indicators that your child has bronciolitis?
Less than 12 months of age
One off disease - not recurrent
Follows typical history
What are investiagtion for bronchiolitis?
NPA
Oxygen saturations
No routine for:
- CXR
- Bloods
- Bacterial cultures
What are mediations proven to work for bronchiolitis?
NOTHING
What are signs of LRTI?
- 48 hrs, fever (>38.5oC), SOB, cough, grunting
- Wheeze makes bacterial cause unlikely
- Reduced or bronchial breath sounds
- “Infective agents”
–Virus+commensal bacteria/bacterium
When would you choose to call an LRTI pneumonia?
•You might call it pneumonia if
–Signs are focal, ie in one area (LLZ)
–Creps
–High fever
Try and avoid calling it pneumonia because it causes great anxiety in the parent
What are investigation for LRTI?
•Investigations
–CXR and inflammatory makers NOT “routine”
What is the managment of LRTI?
•Management
–Nothing if symptoms are mild
–(always offer to review if things get worse!)
–Oral Amoxycillin first line
–Oral Macrolide second choice
–Only for iv if vomiting
When are oral steroids better than IV?
Non-severe LRTI
When child is not vomitting
Oral antibiotics are assocaited with a shorter hospital stay, they are cheaper but they ahve a fever for a few more hours.
Giving amoxycillin to someone with tonsilitis
They may have EBV in which case you will cause them to have a rash
What is the presentation of asthma?
- Literally “panting”
- Chronic
- Wheeze, cough and SOB
- Multiple triggers
- URTI, exercise, allergen, cold weather, etc
- Variable/reversible
- Responds to asthma Rx
- No uniform definition
Key words:
- Wheee
- Variability
- Responds to treatment
What are the contributing factors to asthma?
Genes
Inherently abnormal lungs
Early onset atopy
Later exposures:
Rhinovirus
Exercise
Smoking
What is the investigation for asthma?
- All in the history!
- Examination unhelpful
–Unlikely to be wheezing
–Stethoscope never important (often unhelpful)
•No asthma test in children
–Peak flow random number generator
–Allergy tests irrelevant
–Spirometry lacks specificity
–Exhaled nitric oxide unproven
What is the cough in asthma?
- Everyone coughs!
- Dry
- Nocturnal (just after falling asleep)
- Exertional
Ideal features of asthma?
Wheeze (with and without URTI)
SOB@rest
Parental asthma
Responds to treatment (2 month trial of ICS, you can confirm by giving them a medicaion holiday as well)
•Simplistically
–Under 18 months, most likely infection
–Over 5 years, most likely asthma
–BUT if it sounds like asthma and responds to asthma it is asthma regardless of age!
What is differential diagnosis for asthma?
Onset under 5 years:
- Congenital
- CF
- PCD
- Bronchitis
- Foreign body
Onset over 5 years:
- Dysfunctional breathing
- Vocal cord dysfunction
- Habitual cough
- Pertussis
What are the goals of treatment for asthma?
The goals of treatment are:
- “minimal” symptoms during day and night
- minimal need for reliever medication
- no attacks (exacerbations)
- no limitation of physical activity
- normal lung function (in practical terms FEV1 and/or PEF >80% predicted or best)
How do we measure control of asthma?
- Closed questions
- SANE
- Short acting beta agonist/week
- Absence school/nursery
- Nocturnal symptoms/week
- Excertional symptoms/week
Why might treatment not be working for asthma?
•If not well controlled
–Not taking treatment
–Not taking treatment correctly
–Not asthma (Stop asthma Rx)
–None of the above Increase Rx
Asthma treatment ladder
How does asthma treatment in chidlren differ from the treatment in adults?
- Max dose ICS 800 microg (<12 yo)
- No oral B2 tablet
- LTRA first line preventer in <5s
- No LAMAs
- Only two biologicals
When do you need to aff a regular preventer for asthma?
When?
- Diagnostic test
- B2 agonists >two days a week
- symptomatic three times a week or more, or waking one night a week.
- exacerbations of asthma in the last two years
What with?
•Start very low dose inhaled corticosteroids (or LTRA in <5s)
What is an adverse effect of ICS?
Height suppression
Oral candidiasis?
Adrenocortical suppression
What are the options for step three asthma treatment?
Initial add on preventer
Gets complicated
- Add on LABA or LTRA (BTS/SIGN)
- Add on LTRA (NICE)
- Increase ICS dose (GINA)
LABA have to be used with an ICS - used as a fixed dose inhaler
What is the LTRA used in children?
Montelukast
If someone who is on ICS has poorly controlled asthma what is the next step?
- Add on LABA but keep an open mind!
- Additional add-on therapies
–Increase ICS
–LTRA
When does the heart start to beat of the unborn foetus?
At the beginning of the fourth week
What is the purpose of the ductus arteriosus?
Protects lungs against circulatory overload
Allows the right ventricle to strengthen
Carries low oxygen saturated blood
What is the saturation of foetal blood?
60-70%
What does teh ductus venosus connect?
Connects the umbilical bein to the IVC
(carries mostly oxygenated blood)
Blood pressure in newborn
Breathing rate of newborn
Heart rate of newborn
Mechanisms of heat loss
Radiation:
Heat dissipated to colder objects.
Convection:
Heat loss by moving air.
Evaporation:
We are born in the water.
Conduction:
Heat loss to surface on which baby lies
Non invasive assessment of newbrn breathing?
Non invasive:
Blood gas determination
PaCO2 5-6 kPa, PaO2 8-12 kPa
Trans-cutaneous pCO2/O2 measurement
Invasive measurement of newborn breathing
Invasive:
Capnography
Tidal volume 4-6 ml/kg
Minute ventilation:
Tidal Volume ml/kg x respiratory rate
Flow-volume loop.
When does physiological jaundice appear?
Appears on Day of life (DOL) 2-3.
Disappears within 7-10 DOL in term infants and up to 21 DOL in premature infants
Why is weight loss of 10% normal in a newborn?
Shift of interstitial fluid to intravascular
Diuresis (it is normal not to pass urine for the first 24 hours)
Increased loss through kidney (slower GFR, reduced Na reabsorption, decreased ability to concentrate or dilute urine), increased insensible water loss
What is haemoglobin level at birth?
15-20 g/l
Week 10 = 11.4 g/l
What causes anaemia of prematurity?
Reduced erythropoesis
Infection
Blood letting - most important cause
Defining feature of
Small for gestation is neonatal term
IUGR is term used by obs and gynae people
less than 10th centile for growth?
What are maternal causes for small baby
Smoking
Maternal pre-eclamptic toxemia
Chromosomal - Edwards syndrome
Infection - CMV
Placental abruption
Twin pregnancy
What are problems for small for dates?
Common problems:
- Perinatal Hypoxia
- Hypoglycaemia
- Hypothermia
- Polycythaemia
- Thrombocytopenia
- Hypoglycaemia
- Gastrointestinal problems (feeds, NEC)
- RDS, Infection
What are long term problems for small for dates?
Hypertension
Reduced growth
Obesity
Ischaemic heart disease
What is cut off for preterm?
37 weeks
What is cut off for extrememly preterm?
less than 28 weeks
What is the cut off for low birth weight?
less than 2500 grams
What is the cut off for very low birth weight?
Less than 1500 grams
What is the cut off for extremely low birth weight?
Less than 100 grams
What is incidence of prematurity?
5-12 percent
What is prevention of rds?
Antenatal steroids
What is early treatment of RDS?
Surfactant
Early intubation
Non-invasive support (N-CPAP)
Minimal ventilation (low tidal volume and good inflation)
What are complications of prematurity?
RDS
PDA
Necrotizing enterocollitis
Retiopathy of prematurity
Intraventricular haemorrhage
What causes rds?
Lack of surfactant secreted by type 2 pneuocytes
What are the signs and symptoms of respiratory distress syndrome?
Respiratory Distress
Tachycardia
Hypoxia
Chest X-Ray (ground glass appearance)
What is treatment for RDS?
Antenatal steroids
Exogenous surfactant
Respiratory support (invasive ventilation / continuous positive airway pressure)
Complications include chronic lung disease
What is the pathology assocaited with PDA?
Blood shunted from left to right
Fluid overload
Heart failure
What is presentation for PDA?
Continuous murmur heard between clavicles
Bounding pulses
Wide pulse pressure
What is treatment of PDA?
Fluid restriction
Ibuprofen/indometacin
What are complications of PDA?
Heart failure
Failure to wean off respiratory support
Necrotizing enterocolitis Pathology
Ischaemia of gut wall and secondary infection of bowel
Risk fafctors:
- Prematurity
- Milk feeding
Sepsis
Ibuprofen / indometacin
What is the presentation of necrotising enterocolitis?
Intolerance of feeds
Distended abdomen
Vomiting
Rectal bleeding
Abdomainl X-Ray = distended bowel loops, bowel wall thickening, intramural air, perforation
What is the treatment for Necrotizing enterocolitis?
Nil by mouth, total parenteral nutrition, antibiotics, surgery if severe or perforation (bowel resection and stoma formation)
What are the complications of necrotising enterocolitis?
Malabsorption
Stricture
What is the pathology of IVH in preterm babies?
Haemorrhage of fragil eblood vessels in germinal matrix secondary to hypoxia / RDS
Why is cranial ultrasound used for IVH?
Grading of the bleed
Depends if the bleed is periventricular or spreads to the ventricles / parenchyma
What is treatment of IVH?
Ventricular dilatation (CSF taps / shunt insertion)
What are the causes of jaundice in a baby in the first 24 hours?
Rhesus incompatibility
ABO incompatibility
G6PD deficiency
Hereditary spherocytosis
Sepsis
Bruising
What causes sepsis in day 2-14?
Physiological/breast milk, causes of 24 hour jaundice
What are causes of jaundice from 2-3 weeks?
Unconjugated: physiological/breast milk. UTI, hypothyroidism, galactosaemia
Conjugated: Biliary artresia, neonatal hepatitis
What are the features of SIRS?
SIRS = systemic inflammatory response syndrome
- Fever or hypothermia
- Tachycardia
- Tachypnoea
• Leucocytosis or leucocytopaenia
Infection = bacteraemia (e.g. bacteria multiplying in the
bloodstream)
Normal values
What is the definition of paediatric severe sepsis?
Sepsis and multi-organ failure:
2 or more of the following:
• Respiratory failure
- Renal failure
- Neurologic failure
- Haematological Failure
• Liver failure
ARDS (inflammatory response in the lungs)
Septic shocke
What are possible pathogens for paediatric sepsis?
What are the main cell types that mediate sepsis in children?
Neutrophils and monocytes
(there is also activation of compliment)
Key features of sepsis are coagulopathy, fever, vasodilation and capillary leak
Symptoms of paediatric sepsis
Fever or hypothermia
Cold hands/feet, mottled
Prolonged capillary refill time
Chills/rigors
Limb pain
Vomiting and/or diarrhoea
Muscles weakness
Muscle/joint aches
Skin rash
Diminished urine output
What are the organisms for paediatric meningitis?
What are the symptoms of meningitis in a child?
Nuchal rigidity
Headaches, Photophobia
Diminished consciousness
Focal neurological abnormalities
Seizures
In neonates:
Lethargy, Irritability
Bulging fontanelle
‘nappy pain’
Paediatric sepsis 6 recognition tool
Temperature below 36 or above 38
Innappropriate tachycardia
Poor peripheral perfusion/ capillary refill greater than 2 secs / mottled
Altered mental state
Innapropriate tachypnoea
Hypotension
Meningitis paeds treatment
Supportive treatment:
A airway
B breathing
C circulation
DEFG = ‘don’t ever forget glucose’
Causative treatment:
Antibiotics with good penetration in CSF & broad-spectrum:
3rd generation cefalosporins (+ amoxicilline if neonate)
• Chemoprophylaxis
Close household contacts
Meningococcus B and Streptococcus group A
Diagnosis of meningitis paeds
Blood:
FBC; leucocytosis, thrombocytopaenia
CRP; elevated
coagulation factors; low levels due to DIC
blood gas; metabolic acidosis
glucose; hypoglycaemia
CSF: pleocytosis, increased protein level, low glucose
Blood and CSF cultures (antigen testing, PCR)
Urine culture, skin biopsy culture (this is to diagnose meningococcal infection).
Imaging: CT-cerebrum
What various systems does strep pneumoniae affect?
What makes haemophilus influenzae resistant to the immune system?
Encapsulated H. influenzae, 6 serotypes
• Resist phagocytosis and complement-mediated lysis
Unencapsulated H. influenzae = non-typeable H. influenzae (NTHI)
What does haemophilus influenza type B cause?
Bacteraemia
Meningitis (as severe as pneumococcal meningitis), pneumonia, epiglottitis
What does meningococcus cause?
Casues septic shock and meningitis
IT is found in the nasopharynx
What makes meningococcus a potent activator of the immune system?
Lots of release of lipopolysaccharide (endotoxin)
Who receives men B vaccination?
The vaccine is recommended for babies aged eight weeks, followed by a second dose at 16 weeks, and a booster at one year.
Who gets men C vaccination
The meningitis C vaccine offers protection against a type of bacteria - meningococcal group C bacteria - that can cause meningitis.
Babies are offered a combined Hib/Men C vaccine at one year of age.
Who gets the meningitis ACWY vaccination?
The meningitis ACWY vaccines offers protection against four types of bacteria that can cause meningitis – meningococcal groups A, C, W and Y.
Young teenagers, sixth formers and “fresher” students going to university for the first time are advised to have the vaccination.
What are potential features for JIA?
Arthritis for at least 6 weeks
Morning stiffness or gelling
irritability or refusal to walk in toddlers
School absence or limited ability to participate in physical activity
Rash /fever
Fatigue
Poor appetite/wt loss
Delayed puberty
DDX for JIA
Septic arthritis
Transient synovitis (very common in winter, runny nose, on day 3 maybe have a limp - should settle in 3/4 days, synovail inflammation secondary to an infection, self-resolves.
Malignancies i.e lymphoma, neuroblastoma, bone tumours
Recurrent haemarthrosis (haemophilia)
Vascular abnormalities (AV malformations)
Trauma
others
Signs of JIA
Swelling:periarticular soft tissue edema/intraarticular effusion/hypertrophy of synovial membrane
Tenosynovitis(swollen tendons)
pain
Joint held in position of maximum comfort
range of motion limited at extremes.
What are the features of late childhood onset JIA?
Mostly boys over 8 years
Test negative for ANA
No extraarticular manifestation
Hip onvolvement
What are the featuers of early onset JIA?
Mostly girls between 1-5 years old
20-30% develop iridocyclitis
Test positive for ANA
Joints commonly affected: knees ankles, hands, feet and wrists
No hip involvement
What is the definition of polyarticular arthritis?
Five or more joints affected
Few or no systemic manifestations (fever, slight hepatosplenomegaly, lymphadeopathy, pericarditis and chronic uveitis)
Can either be seropositive (less common, classically in children over 8) or seronegative classically common in children under 5 years
Temperomandibular joint in jury is common leading to limited bite and micrognathia
Onset can be acute but mostly insidious
Large and fast growing joints are mostly affected
What are the features of seropositive polyarticular JIA?
These are 10% of all JIA patients (more common in children over 8)
Who is affected by seronegative polyarticular JIA?
20-25% of all JIA patients
More common in children under 5
What is common amongst enthesitis related JIA?
Usualy has 2 of the following:
- Onset of polyarticular/oligoarticular arthritis in a boy over 8 years of age
HLA B27 positivity
Acute anterior uveitis
Inflammatory spinal pain
sacroiliac joint tenderness
Family history of enthesitis related JIA
For psoriatic JIA, what are ongoing features?
All are HLA B27 positive
Family history of psoriasis
Dactylitis (finger or toe inflammation)
Onycholysis : nail pitting
What are the features of systemic JIA? (Stills disease)
Arthritis
Intermittent fever for over two weeks (normal in the morning but high in the evening)
Salmon red rash on the trunk and the thighs tha accompany the fever
(can be brought on by scratching - koebner’s phenomenon)
Generalised lymphadenopathy
Serositis
Hepatomegaly/splenomegaly
What is the pharmacological treatment for JIA?
NSAIDs
DMARDS
Bioligical agents
Intra-articular oral steroids
1st line therapy is simple pain killers and NSAIDs
2nd line therapy is methotrexate, anti-TNF, Il-1 antagonist, IL-6 antagonist
The role of steroids:
- Used to control fever and pain
- Used in severe disease complications such as pericardial effusion, tamponade, vasculitis, severe autoimmune anaemia and severe eye disease.
- As a bridge between DMARDs
- CHildren undergoing surgery
Intra-articular steroids (mainly for oligoarticular JIA), local steroids can be used for ANA positive oligoarticular eye disease
What are potential investiagtions for JIA?
Labs
Plain X-Ray
US
MRI with contrast
What are goals of treatment of JIA?
Pharmacologic management consisting of nonsteroidal anti-inflammatory drugs (NSAIDs), disease-modifying antirheumatic drugs (DMARDs), biologic agents, [30] and intra-articular and oral steroids
Psychosocial factors, including counselling for patients and parents
School performance, such as school-life adjustments, and physical education adjustments
Nutrition, particularly to address anemia and generalized osteoporosis
Physical therapy to relieve pain and to address range of motion, muscle strengthening, activities of daily living, and conditioning exercises
Occupational therapy, including joint protection, a program to relieve pain, range of motion, and attention to activities of daily living
Which type of JIA are intraarticualr steroids particularly effective?
Oligoarticular JIA
When doy ou give biological agents in JIA?
Failure to respond to DMARDs
Anti-TNF agents are commonly used
How is chronic uveitis prevented?
Uveitis associated with JIA
If untreated can progress to chronic uveitis
All children diagnosed with JIA undergo screening.
Early detection prevents complications
Who is uveitis more common in ?
ANA positive oligoarticular JIA
What are symptoms of uveitis?
Rarely symptomatic
Red eyes, headache, reduced vision.
Cataracts, glaucoma and blindness
What is the treatment of uveitis?
Not detected by opthalmoscopy
All JIA pts to be seen within 6 weeks of diagnosis.
High risk children
Initially topical steroids to reduce inflammation
More severe need systemic steroids
Poor response to steroids
DMARD and biologics
Early detection and treatment prognosis good.
What are comlications of JIA?
Poor growth
Localised growth disturbances
Micrognathia
Contractures
Ocular complications
What causes impetigo?
Strep pyogenes or staph aureus
What causes scarlet fever?
Group A beta haemolytic strep - typically strep pyogenes
Who is affected by scarlet fever?
Children aged 2-6 peak incidence is age 4
What is the route of infection in scarlet fever?
Scarlet fever is spread via the respiratory route by inhaling or ingesting respiratory droplets or by direct contact with nose and throat discharges, (especially during sneezing and coughing).
What is the presentation of scarlet fever?
fever: typically lasts 24 to 48 hours
malaise, headache, nausea/vomiting
sore throat
‘strawberry’ tongue
rash - fine punctate erythema (‘pinhead’) which generally appears first on the torso and spares the palms and soles. Children often have a flushed appearance with circumoral pallor. The rash is often more obvious in the flexures. It is often described as having a rough ‘sandpaper’ texture. Desquamination occurs later in the course of the illness, particularly around the fingers and toes
How is the diagnosis of scarlet fever made?
Throat swab
Antibiotic treatment should be commenced immediately before waiting for results§
What is the management of scarlet fever?
Management
oral penicillin V for 10 days
patients who have a penicillin allergy should be given azithromycin
children can return to school 24 hours after commencing antibiotics
scarlet fever is a notifiable disease
What causes staphylococcal scalded skin syndrome?
Exotoxins of staph aureus, usually happens in kids that are less than 5 eyars of age
Consists of fluid filled blisters that rupture easily, especially in the skin folds
What are the featues of kawasaki disease?
Passmedicine:
high-grade fever which lasts for > 5 days. Fever is characteristically resistant to antipyretics
conjunctival injection
bright red, cracked lips
strawberry tongue
cervical lymphadenopathy
red palms of the hands and the soles of the feet which later peel
Fever for at elast 5 days and four of the five:
bilateral conjunctival injection
changes of the mucous membranes
cervical lymphadenopathy
polymorphous rash
changes of the extremities
peripheral oedema
peripheral erythema
periungual desquamation
What type of arteries does kawasakis disease affect?
It is described as a self-limited vasculitis of medium sied arteries
It may cause potentially serious problems such as coronary artery aneurysms
What is the diagnosis of kawasaki disease?
Clinical diagnosis, no specific test
What is the managment of kawasaki disease?
Management
high-dose aspirin
intravenous immunoglobulin
echocardiogram (rather than angiography) is used as the initial screening test for coronary artery aneurysms
What is the risk of giving a child aspirin?
Reye’s syndrome
What is henoch-Schonlein purpura?
Henoch-Schonlein purpura (HSP) is an IgA mediated small vessel vasculitis. There is a degree of overlap with IgA nephropathy (Berger’s disease). HSP is usually seen in children following an infection.
Features
palpable purpuric rash (with localized oedema) over buttocks and extensor surfaces of arms and legs
abdominal pain
polyarthritis
features of IgA nephropathy may occur e.g. haematuria, renal failure
What are potential organisms that cause erythematous maculopapulous rash?
Measles
Rubella
Enterovirus
CMV
What organisms cause vesiculobulbous rash?
Varicella zoster
Herpes simplex
Enterovirus
What organisms casue petechial and purpuric rash?
Rubella
Enterovirus
Cytomegalovirus
What is the incubation period of varicella zoster?
14 (10-21) days
What is the clinical presentation of chicken pox?
Clinical features (tend to be more severe in older children/adults)
fever initially
itchy, rash starting on head/trunk before spreading. Initially macular then papular then vesicular - can cause scarring
systemic upset is usually mild
Whata re potential complications of varicella zoster?
Secondary strep/staph skin infections
Meningoencephalitis, cerebellitis, arthritis
What is the management of varicella zoster?
Management is supportive
keep cool, trim nails
calamine lotion
school exclusion*: children should be kept away from school for at least 5 days from onset of rash (and not developing new lesions)
immunocompromised patients and newborns with peripartum exposure should receive varicella zoster immunoglobulin (VZIG). If chickenpox develops then IV aciclovir should be considered
What are the two types of herpes simpex infection?
HSV 1 and HSV 2
1 = oral
2 = genital
What are the features of herpes simplex?
primary infection: may present with a severe gingivostomatitis
cold sores
painful genital ulceration
What is the managment of herpes simplex?
Management
gingivostomatitis: oral aciclovir, chlorhexidine mouthwash
cold sores: topical aciclovir although the evidence base for this is modest
genital herpes: oral aciclovir. Some patients with frequent exacerbations may benefit from longer term aciclovir
What is the cause of hand, foot and mouth disease?
Enteroviruses; coxsackie A16 and enterovirus 71
What are the features of hand foot and mouth?
mild systemic upset: sore throat, fever
oral ulcers
followed later by vesicles on the palms and soles of the feet
What is the management of hand foot and mouth disease?
symptomatic treatment only: general advice about hydration and analgesia
reassurance no link to disease in cattle
children do not need to be excluded from school*
What is a potential complication of hand foot and mouth disease?
Encephalitis
How should you go about testing a vesicular rash?
Smear of vesicle (ulcer base) - Tzanck test: no differentiation (HSV/VSV)
Serology (past infections only)
PCR (fluids, CSF, blood)
What are the types of primary immunodeficiencies?
Antibody deficiencies - defective B cell function and therefore deficiency in one or more classes of antibodies
Cellular immunodeficiencies - impairment of T-Cell function or the absence of normal T cells
Innate immune disorders - defects in phagocyte function, complement deficiencies, absence or polymorphisms in pathogen recognition receptors
What is the effect of antibody deficiencies?
Recurrent bacterial infections of the upper and/or lower respiratory tract
S.pneumoniae, H.Influenzae
What is the result of cellular immunodeficiencies?
Unusual or opportunistic infections often combined with a failure to thrive
Pneumocystic jirovecii, CMV (pneumonia)
What is the manifestation of innate immune disorders?
Defects in phagocyte function:
- S.aureus (sepsis, skin lesions, abscesses internal organs)
- Aspergillus infections (lung, bones and the brain)
Complement deficiencies - (N.meningitidis)
What is the underlying defect in chronic granulomatous disease?
Lack of NADPH oxidase reduces ability of phagocytes to produce reactive oxygen species
What is a potential complication of chronic granulomatous disease?
Recurrent pneumonias and abscess formation (particularly due to stpah aureus infection and fungi)
Who gets invasive fungal infections?
Primary immunodeficiency
Neutropenic patients due to leukaemia and/or chemotherapy
Invasive candidiasis in premature neonates due to immature immune system
Children in intensive care who have been treated with broadspectrum antibiotics and/or abdominal surgery
Comparison with candida vs Aspergillus
Maybe just remember that candida has positive blood cultures whereas aspergillus doesn’t
Aso candida assocaited with birth canal
Aspergillus is everywhere
What is the presentation of candidaemia in a neonate?
Sepsis syndrome
2nd/3rd week of life
Thrombocytopenia
Hyperglycaemia
Wht can predispose to neonatal candidaemia?
Prematurity
Indwelling catheters
Broad spectrum antibiotics
Steroids
H2 blockers
Abdominal surgery
Can you give a child off label medicine?
Not for use in children below a certain age such as 16 or 18 years old
What are different ways medicine can be delivered ‘ off license’?
Route of administration is different
Medicine used for something else
Medicines used at a different dose to that recommended
Children below started recommended age limit
Medicines without license, including those being used in clinical trials
What is the risk attached to off label prescription?
Increased rate of ADRs
Including death
Good to know
•Neonates/infants are more sensitive to drugs than adults
—due mainly to organ system immaturity
- Neonates/infants are at increased risk for adverse drug reactions
- Young patients show greater individual variation
In the early post-natal period there is a higher incidence of therapeutic errors
Adolescence:
- sexual development - major changes in body size and coposition - affect drug metabolism, alterations in metabolism as a result of drinking smoking and taking drooogs
30% of prescribed medicines are off label in the early child
Almost all medicines used during the early post-natal period are prescribed and used as off label
Most commonly used drugs in children have a wide therapeutic index
How are oral of drugs different in a child?
Reduced gastric emptying, adult levels are reached at 3 years
Absorption reaches adult values by 6-8 months
Bioavailability of drugs is reduced if there is haigh hepatic clearance and a high first pass metabolism. There is also large variability in these drugs
Drugs which rely on entero-hepatic circulation such as cyclosporin are also highly variable
Decreased gastric emptying, decreased absorption, reduced bioavailability
How are percuteneous drugs different in children?
Enhanced in infants and children, especially with damaged skin of an occlusive dressing
When are rectal administrations given?
•Rectal
–Used in patients who are vomiting or who are unwilling to take oral medication.
–Avoids first-pass metabolism.
–Not ideal as significant variation, few preparations, trauma.
What is extracellular fluid content in a newborn?
–Newborn infants have high extracellular fluid volume of 45%. At one year 25%, and
•Adults 20-25%.
What is total body water in children?
–Total body water is high 75-92%.
•Adults are about 50-60%.
What is fat content in children?
–Fat content is low 12% in term infants, 30% at 1 year and
•18% in the adult
How does body composition affect drug dosage in children?
- In terms of drug dosage this means that larger initial doses on a mg/kg body weight need to be given to achieve correct plasma concentration.
- However after the loading dose the dosage interval may need to be increased or the daily dose decreased to compensate for the decreased hepatic function or decreased renal elimination.
- ASSUMING THAT PHARMACODYNAMIC RESPONSE IS SIMILAR TO THE ADULT
So bigger initial dose, space out later doses
How does plasma protein affect the amount of active drug in a neonate?
Plasma binding is reduced in the neonate meaning that there is a greater amount of unbound or active drug
What should we consider about the blood brain barrier in children when prescribing?
Not fully developed at birth
Drugs have relatively easy access to the CNS
How does half life compare in a neonate?
Longer
–In the neonate liver metabolism is immature, thus drugs eliminated by the liver have a longer t1/2
–This results in a longer time to reach steady state (4xt1/2), an increase in steady state concentration
–The same applies to drugs eliminated by the kidneys.
How does hepatic metabolism change in neonate period of life?
It is very slow in the neonatal period
Neonates have high sensitivtiy to drugs that are cleared by hepatic metabolism
Metabolic activity increases rapidly from about 1 month after birth with adult activity by 1 year of age
Why do some drugs such as anti-epileptics need to be greater on a mg/kg basis in a 1-8 year old child than in an adult?
Hepatic metabolism is more rapid and half life is shorter
When are adult values of renal excretion achieved?
3-6 months
tubular function at 12 months
Consideration of renal function is most important in the neonate
For most drugs T 1/2 is prolonged
Summary of droooogs
What metabolic disturbances might increase sensitivity to droogs?
Sensitvity to drugs is increased by fever
dehydration
Acidosis (decreased cellular penetration of basic drugs)
What are the three main structures of the glomerular filtration barrier?
Fenestrated endothelial cell
Glomerular basement membrane
Podocyte with their slit diaphragms
What does proteinuria indicate?
Glomerular injury
Which describes nephritic and which describes nephrotic?
- Increasing haematuria, Intravscular overload
- Increasing proteinuria, intravscular depletion
1 - nephritic syndrome
2 - nephrotic syndrome
What is the role of mesangial cells?
Glomerulr structural support
Embedded in GBM
Regulates the blood flow of the glomerular capillaries
What is the most common type of glomerulonephropathy in children?
Minimal change disease - results in nephrotic syndrome
A girl presents with nephrotic syndrome, what tests do you want to carry out?
Dipstick
Protein creatinine ratio, early morning urine is best.
(normal pr:cr ratio is less than 20mg/mmol)
Nephrotic range is greater than 250mg/mmol
24 hour urine collection (gold standard)
Normal is less than 60 mg/m2/24 hours
Neohrotic range is greater than 1g/m2/24 hours
Check bloods - potential to have low albumin (probably high lipids as well)
What are typical features of nephrotic syndrome?
- Typical Features
- Age (2-5yrs)
- Normal blood pressure
- Resolving microscopic haematuria
- Normal renal function
- Atypical features
- Suggestions of autoimmune disease
- Abnormal renal function
- Steroid resistance
–Only then consider renal biopsy
What is treatment for nephrotic syndrome?
Typical features:
give prednisolone for 8 weeks
What are side effects of glucocorticoids
spectrum of nephrotic syndrome
What is the treatment for minimal change disease?
Steroids - causes the complete loss of proteinuria (if there is no response to steroids consider FSGS)
Initial relapse is treated with further steroid course
Subsequent relapses are treated with
Cyclophosphamide
Cyclosporin
Tacrolimus
Mycophenolate mofetil
Rituximab
What structure is affected in FSGS?
Podocyte loss
Congenital causes are as a result malformation of nephrin and podocin proteins - also results in loss of podocytes
What are causes of haematuria?
Glomerulonephritis
Post infectious glomerulonephritis
IGA / HSP (henoch schonlein purpura)
UTI
Trauma
Stones
Nephroticc vs nephritic syndrome
What are causes of glomerulonephritis?
Post infectious GN
HSP / IgA nephropathy
Membranoproliferative GN
Lupus nephritis
ANCA positive vasculitis
What is the antibody you can look for if you suspect post-infective glomerulonephritis?
ASO - antistreptolysin O - this is an antibody made in response to streptolysin O.
The test would be called an ASOT - anti-streptolysin O titre
Streptolysin O is produced by most A strains of Strep, many strains of groups C and G strep as well
To rule out wegners you can test ANCA as well. C- ANCA = wegners, P ANCA = microscopic polyarteritis
Feartures of post strep glomerulonephritis
Features
general: headache, malaise
haematuria
proteinuria
hypertension
low C3
raised ASO titre
What are the immune complexes made from that are part of the disease process in acute post-infective glomerulonephritis?
It is caused by immune complex (IgG, IgM and C3) deposition in the glomeruli. Young children most commonly affected.
Comparison between IgA and post - strep GN
Differentiating between IgA nephropathy and post-streptococcal glomerulonephritis
post-streptococcal glomerulonephritis is associated with low complement levels
main symptom in post-streptococcal glomerulonephritis is proteinuria (although haematuria can occur)
there is typically an interval between URTI and the onset of renal problems in post-streptococcal glomerulonephritis
What is the treatment for acute post - infectious glomerulonephritis?
Antibiotic
Support renal functions
Diuretics for fluid overload
What is the most common glomerulonephritis?
IgA nephropathy
What is the presentation of IgA nephropathy?
Presentations
young male, recurrent episodes of macroscopic haematuria
typically associated with mucosal infections e.g., URTI
nephrotic range proteinuria is rare
renal failure is unusual and seen in a minority of patients
What are the clinical features of HSP?
•Clinical diagnosis
–Mandatory palpable purpura
–one of 4
- Abdominal pain
- Renal involvement
- Arthritis or arthralgia
- Biopsy
–IgA depostition
What ois the most common cause of vasculitis in children?
IgA vasculitis - affects small vessels
IgA Nephropathy and IgA vasculitis with nephritis (HSP) – spectrum of same disease
What is the clinical picture of IgA vasculitis?
•1-3 days post trigger
–Viral URTI in 70%
–Streptococcus, drugs
•Duration of symptoms
–4-6 weeks
–1/3rd relapse
•Nephritis
–Mesangial cell injury
What is the treatment of vasculitis?
•Treatment
–Symptomatic
•Joints, gut (joints - heinoch shonelein syndrome causes arthritis, large overlap with IgA nephropathy)
–Glucocorticoid therapy
- Not helpful in renal disease
- May help with gastrointestinal involvement
–Immmunosuppresion (cyclophosphamide)
•Trial in moderate to severe renal disease
–Long term
•Hypertension and proteinuria screening
Summary
What are the features of acute kidney injury?
Retention of urea
Anuria/oliguria (less than 0.5 ml/kg/hr)
Hypertension with fluid overload
Rapid rise in plasma creatinine (serum creatinine is 1.5 times the age specific reference)
Interpretation of AKI warning score
•Interpretation of AKI warning score:
–AKI 1: Measured creatinine >1.5-2x reference creatinine/ULRI
–AKI 2: Measured creatinine 2-3x reference creatinine/ULRI
–AKI 3: Serum creatinine >3x reference creatinine/ULRI
What are pre-renal causes of AKI?
Loss of volume (vomitting, diarrhoea, haemorrhage, dehydration)
Hypotension and shock
Congestive heart failure
NSAIDS ans ACEi - these can rreduce blood flow to the kidneys
What are the intrinsic causes of acute kidney injury?
Acute tubular necrosis (consequence of hypoperfusion and drugs)
Acute interstitial nephritis (NSAIDS - autoimmune)
Glomerulonephritis
HUS
Other causes include:
- Myeloma, intra-renal vascular obstruction, myeloma, thrombotic microangiopathy, rhabdomyolysis
What are post renal causes of AKI?
Intraluminal (calculus, clot, sloughed papilla)
Intramural (malignancy, ureteric stricture)
Extramural - Malignancy
What are likely causes of HUS in children?
Post diarrhoea - enterohaemorrhagic E.Coli (VTEC or STEC)
Pneumococcal infection
Drugs
Atypical HUS
What is the triad of HUS?
Microangiopathic haemolytic anaemia
Thrombocytopenia
AKI
What are congenital abnormalities that can lead to CKD in children?
Reflux nephroapthy
Dysplasia
Obstructive uropathy (posterior urethral valves)
These may be isolated or part of a much bigger clinical picture (turner, trisomy 21, brachio-oto-renal, prune belly syndrome)
What are hereditary conditions that might lead to CKD?
Cystic kidney disease
Cystinosis
What are the stages of CKI?
What are the signs and symptoms of chronic kidney disease?
Oliguria
Peripheral oedema
Uremia
GI ulcerations, bleeding and diarrhoea
Encephalopathy (fatigue, appetite loss, confusion)
Increase potassium (cardia arrhythmias)
Anaemia - low erythropoeitin production by the kidneys
What is the most common presentation of a neonate with UTI?
Fever
Vomiting
Lethargy
Irritability
(can also cause poor feeding, failure to thrive, abdominal pain, jaundice, haematuria, offensive urine)
What is the common presentation of UTI in a child?
How do we obtain a urine sample in babies
Urine collection method
clean catch is preferable
if not possible then urine collection pads should be used
cotton wool balls, gauze and sanitary towels are not suitable
invasive methods such as suprapubic aspiration should only be used if non-invasive methods are not possible
What are the tests of UTI?
Diptick - leucocyte esterase activity, nitrites, unreliable under the age of 2
Microscopy:
Pyuria over 10 WBC per cubic mm, bacturia
Culture: greater than 10^5 colony forming units
What are the grades of vesicoureteric reflux?
1-ureter only
2-ureter, pelvis, calyces
3-dilatation ureter
4-Moderate dilatation of ureter
± pelvis ±tortuous ureter, obliteration of fornices
5-gross dilatation/tortuosity,
no papillary impression in calyces
What are investigations for reflux nephropathy?
Ultrasound
DMSA (scarring/function)
Micturating cystourethrogram
MAG 3 scan
What is treatment for UTI?
•Lower tract
–3 days oral antibiotic
•Upper tract / pyelonephritis
–antibiotics for 7-10 days
•Oral if systemically well
–Role of prophylaxis ??
•Prevention
–Fluids, hygiene, constipation
–Voiding dysfunction
Oral antibiotics are given from 3 months of age: trimethoprim, co-amoxiclav and cephalosporin
If using IV - 3rd generation cephalosporin or co-amoxiclav, IV aminoglycosides effective
Pass Medicine:
infants less than 3 months old should be referred immediately to a paediatrician
children aged more than 3 months old with an upper UTI should be considered for admission to hospital. If not admitted oral antibiotics such as cephalosporin or co-amoxiclav should be given for 7-10 days
children aged more than 3 months old with a lower UTI should be treated with oral antibiotics for 3 days according to local guidelines, usually trimethoprim, nitrofurantoin, cephalosporin or amoxicillin. Parents should be asked to bring the children back if they remain unwell after 24-48 hours
antibiotic prophylaxis is not given after the first UTI but should be considered with recurrent UTIs
What are factors that affect progression of CKD?
Late referral
Hypertention
Proteinuria
High intake of protein, phosphate and salt (these are all things that are avoided in CKD)
Acidosis
Recurrent UTIs
What is the golds standard for blood pressure monitoring in children less than 5?
Doppler
What are the causes of haemolytic uraemic syndrome?
post-dysentery - classically E coli 0157:H7 (‘verotoxigenic’, ‘enterohaemorrhagic’)
tumours
pregnancy
ciclosporin, the Pill
systemic lupus erythematosus
HIV
What are investigations for haemolytic uraemic syndrome?
Investigations
full blood count: anaemia, thrombocytopaenia, fragmented blood film
U&E: acute renal failure
stool culture
What is the management of HUS?
Management
treatment is supportive e.g. Fluids, blood transfusion and dialysis if required
there is no role for antibiotics, despite the preceding diarrhoeal illness in many patients
the indications for plasma exchange in HUS are complicated. As a general rule plasma exchange is reserved for severe cases of HUS not associated with diarrhoea
What are the types of cystic renal disease?
Simple
–Developmental
- Dysplasia (multicystic dysplastic kidney - non-functioning kidney, hypertrophy of the contralateral kidney)
- Multicystic dysplastic
–Genetic
- Autosomal Recessive (ARPKD) (potter’s sequence - large bright kidneys, oligohydramnios, pulmonary hypoplasia, fetal compression of faces, contracture) defect in chromosome 6 that codes for fibrocystin. Fibrocystin is needed for normal renal tubule development. End stage renal failure develops in childhood.
- Autosomal Dominant (ADPKD) - most common inherited form of kidney disease - managment with tolvaptan.
Autosomal dominant is more common than recessive.
•Syndromic
–Various forms of Juvenile Familial Nephronophthisis (JFN)
–Acquired
•Cancer
Good to know that JFN is normotensive whereas the polystic disorders are hypertensive
PKD 1 is more aggressive than PKD 2
What causes alports syndrome?
X - linked dominant condition
Defect in gene coding for type 4 collagen
What part of the kidney is abnormal in Alport’s disease?
The glomerular basement membrane
What is the presentation of Alport’s?
Alport’s syndrome usually presents in childhood. The following features may be seen:
microscopic haematuria
progressive renal failure
bilateral sensorineural deafness
lenticonus: protrusion of the lens surface into the anterior chamber
retinitis pigmentosa
renal biopsy: splitting of lamina densa seen on electron microscopy
Why might babies be more susceptible to changes in body temperature?
Greater area:volume ratio
Immature shivering function
What are causes of respiratory failure in a child?
Obstruction - birth asphyxia, croup, epiglottiis (caused by haemophilus influenzae), bronchiolitis, asthma, pneumothorax
Depression - poisoning, convulsions, raised ICP (head injury, acute encephalopathy from meningitis or encephalitis)
What are paediatric causes of circulatory failure?
Fluid loss (gastroenteritis, burns, trauma)
Fluid malabsorption:
- Sepsis
- Anaphylaxis
- Heart failure
What are the three peaks of death in children?
1 - death instantaneously, unsurvivable major vessel and brain injury
2 - Death from ABCD problems
3 - multi-organ failure, sepsis
What are symptoms of paediatric jaundice?
Symptoms
Baby pyrexia or hypothermia
Poor feeding
Lethargy
Early jaundice
Hypoglycaemia
Hyperglycaemia
Asymptomatic
What are risk factors for paediatric sepsis?
Premature rupture of membranes
Maternal pyrexia
Group B strep in the mother
What is the treatment of sepsis in neonate?
Admit NNU
Partial septic screen (FBC, CRP, blood cultures) and blood gas
Consider CXR, LP
IV penicillin and gentamicin 1st line
2nd line iv vancomycin and gentamicin
Add metronidazole if surgical/abdominal concerns
Fluid management and treat acidosis
Monitor vital signs and support respiratory and cardiovascular systems as required
What are the commonest causes of neonatal sepsis?
Group B strep
E.Coli
Listeria
Coag - neg staphylococco (if lines insitu)
Haemophilus influenzae
What are the features of GBS sepsis?
Early onset - birth to 1 week
Late onset or recurrence up to 3 months
Symptoms - may be non-specific
May be non-specific
May have no risk factors
Complications:
- Meningitis, DIC, pneumonia and respiratory collapse, hypotentison and shock
Prognosis - 4 to 30% mortality
What may be the result of ToRCH infections?
Rubella:
Sensorineural deafness
Congenital cataracts
Congenital heart disease (e.g. patent ductus arteriosus)
Glaucoma
Toxoplasmosis:
Cerebral calcification
Chorioretinitis
Hydrocephalus
CMV:
Growth retardation
Purpuric skin lesions
They all cause hepatosplenomegaly
How can TORCH infections affect delivery?
May cause pregnancy loss or preterm delivery
How does a congenital syphilis infection affect the skin?
Characteristic rash on hands and feet
What are causes of respiratory distress in neonates?
Sepsis
Transient tachypnoea of the newborn (most common cause of respiratory distress in newborns - caused by failure to clear fetal lung fluid)
Meconium aspiration
How does TTN present?
Presents within the 1st few hours of life
Clinically seen as grunting, tachypnoea, oxygen requirement, normal gases
What is the managment of TTN?
It is self-limiting and common
Managment is supportive, antibiotics, fluids, O2, airway support
What are the risk factors for meconium inhalation?
Post dates (aged placenta)
Maternal diabetes
Maternal hypertension
Difficult labour
What are symptoms of meconeum inhalation?
Cyanosis
Increased work of breathing
grunting
apnoea
floppiness
What are investigations for meconeum?
Blood gas
Septic screen
CXR
What is the treatment of meconium aspiration?
Suction below cords
Airway supoprt - intubation and ventilation
Fluids and antibiotics IV
Surfactant
NO or ECMO
What chemical compound is responsible for cyanosis?
•Cyanosis occurs when there is more than 5g/dl of deoxyhaemoglobin
Respiratory and sepsis is more common than cardiac
What are the investigations for the blue baby?
Examination and history
Sepsis screen
Blood gas and blood glucose
CXR
Pulse oximetry
ECG
Echo
Hyperoxia test
What are differential diagnosis’ for the blue baby?
TGA
Tetralogy of fallot
TAPVD
Hypoplastic left heart syndrome
Tricuspid atresia- absence of tricuspid valve and therefore absence of right atrioventricular connection - right atrium is hypoplastic
Truncus arteriosus (pulmonary trunk and aorta are one vessel)
Pulmonary artresia
(meconium aspiration was previously mentioned as causing cyanosis)
What is the managment of hypoglycaemia?
May require admission to NNU
Monitor blood glucose
Start IV 10% glucose
Increase fluids
Increase glucose concentration (central IV access)
Glucagon
Hydrocortisone
Role of hydrocortisone:
Cortisol is needed to maintain blood glucose levels
Cortisol is permissive to glucagon
Stimulates the formation of gluconeogenic enzymes - enhancing gluconeogenesis
Proteolysis - cortisol stimulates the breakdown of muscle protein to provide gluconeogenic substrates for the liver
Lipolysis in adipose tissue releases FFA - preserves glucose concentration and also provdes moresubstrate for gluconeogenesis
Decreases insulin sensitivity of muscles and adipose tissue.
What is managemnt for hypothermia?
Admit and place in incubator
Sepsis screen and antibiotics
Consider checking thyroid function
Monitor blood glucose
What are causes of birth asphyxia?
Placental problem
Long difficult delivery
Umbilical cord prolapse
Infectoin
Neonatal airway problem
Neonatal anaemia
What are stages of birth asphyxia?
1st
- within minutes without O2
- Cell damage occurs with lack of blood flow and O2
2nd
- Reperfusion injury
- Can last days or weeks
- Toxins are released from damaged cells
What is the managment of birth asphyxia?
Treat seizures
Therapeutic hypothermia
Support
Fluid restriction (avoid cerebral oedema)
Monitor for renal and liver failure
Respiratory support
Cardiac support
What are causes of failure to pass stool?
Constipation
Large bowel artresia
Imperforate anus
Hirschsprungs disease (a congenital condition in which the rectum and part of the colon fail to develop a normal system of nerves, leading to an accumulation of faeces in the colon following birth.) Diagnostic test is rectal biopsy
Meconium ileus (assocaited with cystic fibrosis)
What are pathological causes of jaundice?
• 1st 24hrs :
- Haemolytic ( G6PD – spherocytosis )
- TORCH ( congenital infection )
Also included in this section is haemolysis (rhesus incompatibility, other antibodies, ABO incompatibility)infection, hereditary anaemias
• 2nd day – 3rd wk :
- Physiological ( gone after 1st wk )
- Breast milk
- Sepsis
- Polycythaemia
- Cephalhaematoma
•Crigler-Najjar Syndrome
•Haemolytic disorders
• After 3rd wk :
- Breast milk
- Hypothyroidism
- Pyloric stenosis
- Cholestasis
NHS:
ABO bloud group mismatch between mum and baby
Rhesus factor disease
Urinary tract infection
Crigler najjar syndrome
Blockage in the bile ducts and gall bladder
G6OD deficiency?
During breast milk jaundice, what advice is given to mothers?
Continue breast feeding
If the child is receiving treatment, make sure to give the child more fluids and more regular feeds
What disease is assocaited witrh plethora?
Polycythaemia
(or it could be SVCS)
Who gets erythema toxicum?
- 30 – 70% of normal term neonates.
- very rare in the pre-term.
What rash is associated with erythema toxicum?
Maculo-papular
What is the prognosis of erythea toxicum?
Rash fades by the end of the first week
no treatment is reqiured
STORK MARK
This is a very common flat pink lesion, present at
birth. It is usually located on the forehead, eyelids,
occiput, neck or midline of the back. It may
be V-shaped on the forehead/occiput. Facial lesions
fade, occipital tend not to. The lesions are not pathological
so there is no active management needed.
What is the treatment of jaundice?
Treat underlying cause
Hydrate
Phototherapy
Exchange transfusion
Immunoglobulin
Who is at risk of hypoglycaemia?
Limited glucose supply
- premature babies
- perinatal stress
- *Hyperinsulinsim** (infants of diabetic mothers)
- *Increased glucose utilisation** - Small and large for gestational age
Hypothermia
Sepsis
What are symptoms of hypoglycaemia?
Jitteriness
Hypothermia
Temperature instability
Lethargy
Hypotonia
Apnoea, irregular respirations
Poor suck / feeding
Vomiting
High pitched or weak cry
Seizures
Asymptomatic
What is the definition of hypoglycaemia?
Defined as blood sugar below 2.6 mmol/l
When might bedside testing be innaccurate for blood sugar?
at low or high levels
When there is poor perfusion
When there is polycythaemia
Which babies are vulnerable to hypothermia?
Low birth weight
Babies requiring prolonged resuscitation
Here is how heat is lost
How do you resuscitate a baby who has been afflicted with cold stress?
Dry quickly
Remove wet linens
Use warm towels/blankets
Provide radiant warmer heat
Use heated / humidified oxygen
When is frenotomy indicated in a tied tongue?
Restriction of the tongue beyond the alveolar margins
OR
Heavy grooving of the tip of the tongue
OR
Feeding is affected
What causes cleft lip?
Maxillary and medial nasal processes fail to merge, usually around 5 weeks gestation
What are the types of cleft lip?
Complete vs incomplete
unilateral vs bilateral
Cleft palate
What are the issues with cleft palate?
Feeding issues
◦Special bottles and teats
◦Can still attempt breast feeding
Airway problems
Associated anomalies
◦Need hearing screen
◦Need cardiac echo
◦Remember trisomies
What eye conditions should be looked out for in early childhood?
Cataracts - treated with lens removal and artifical lens
Retinoblastoma - laser therapy, chemo, surgical removal of eye
What can spinal dimples be suggestive of?
Spina bifida
Possible kidney problem
What is a cephalohaematoma?
Localised swelling over one or both sides of the head
Becomes maximal by the 3rd to 4th day of life
Soft, non-translucent swelling
Limited to one of the cranial bones, usually the parietal bone
DOES NOT CROSS JOINT LINES
What causes a cephalohaematoma?
Haemorrhage beneath the pericranium
No assocaition with intracranial bleeding
What is the prognosis of cephalohaematoma?
No treatment is required
Resolution occurs in 3-4 weeks
occasionally, if the haematoma is very large, the increased haemolysis results in increased or prolonged neonatal jaundice
What type of head deformatin is casued by pressure of the presenting part of the baby being pressed against the dilating cervix?
Caput succedaneum
Does not cause complications and resolves over the first few days
What is the managment of talipes?
Medial (varus) or lateral (valgus) deviation of the foot is often positional and requires no treatment other than physiotherapy
Fixed talipes requires more vigorous manipulation, strapping, casting or possibly surgery
Babies with significant talipes may also have developmental dysplasia of the hips
What is the managment of DDH?
Goal
◦Relocate head of femur to acetabulum so hip develops normally
Pavlik harness
Surgical reduction
What are the features of trisomy 21?
Clinical features
face: upslanting palpebral fissures, epicanthic folds, Brushfield spots in iris, protruding tongue, small low-set ears, round/flat face
flat occiput
single palmar crease, pronounced ‘sandal gap’ between big and first toe
hypotonia
congenital heart defects (40-50%, see below)
duodenal atresia
Hirschsprung’s disease
Cardiac complications
multiple cardiac problems may be present
endocardial cushion defect (most common, 40%, also known as atrioventricular septal canal defects)
ventricular septal defect (c. 30%)
secundum atrial septal defect (c. 10%)
tetralogy of Fallot (c. 5%)
isolated patent ductus arteriosus (c. 5%)
Later complications
subfertility: males are almost always infertile due to impaired spermatogenesis. Females are usually subfertile, and have an increased incidence of problems with pregnancy and labour
learning difficulties
short stature
repeated respiratory infections (+hearing impairment from glue ear)
acute lymphoblastic leukaemia
hypothyroidism
Alzheimer’s disease
atlantoaxial instability
What does low set ears, posteriorly rotated indicate?
Indicates lack of maturity
What is a potential cause of polysyndactyly?
HOXD13
What are the features of acrocephalopolysyndactyly?
Tall forejead
Polydactyly
Syndactyly
Potential cause of acrocephalopolysyndactyly
Greig / GL13
What are the features of Pierre-Robin?
Very similar to treacher collins (treacher collins is autosomal dominant though)
Micrognathia
Posterior displacement of the tongue (may result in upper airway obstruction)
Cleft palate
What are the features of turner’s?
Turner’s syndrome is a chromosomal disorder affecting around 1 in 2,500 females. It is caused by either the presence of only one sex chromosome (X) or a deletion of the short arm of one of the X chromosomes. Turner’s syndrome is denoted as 45,XO or 45,X
Features
short stature
shield chest, widely spaced nipples
webbed neck
bicuspid aortic valve (15%), coarctation of the aorta (5-10%)
primary amenorrhoea
cystic hygroma (often diagnosed prenatally)
high-arched palate
short fourth metacarpal
multiple pigmented naevi
lymphoedema in neonates (especially feet)
gonadotrophin levels will be elevated
What are the features of 22Q11?
C - Cardiac abnormalities
A - Abnormal facies
T - Thymic aplasia
C - Cleft palate
H - Hypocalcaemia/ hypoparathyroidism
22 - Caused by chromosome 22 deletion
Also causes loss of T cell function
