Paediatrics Flashcards
What defines a pre term baby?
Born before 37 weeks gestation
How do you assess a baby when they are born?
Breathing, heart rate, colour, tone and response to stimulation
APGAR score
How do you keep premature babies warm when they are first born?
Keep the baby warm using a plastic bag under a radiant heater
What might a baby with respiratory distress syndrome look like?
Tachypnoea, grunting, cyanosis
Flaring of alae nasi
Intercostal and subcostal retractions
What management may be required for a baby with respiratory distress syndrome?
May need oxygen, CPAP (generate pressure below vocal cords to inflate lungs) or ventilation
What cardiovascular problems may be present in a premature baby?
Cardiovascular: ductus venosus and foramen ovale need to close
Hypotension: heart not pumping properly, not enough blood volume
Patent ductus arteriosus: Blood flow back into pulmonary system, increase stress on lungs, compliance of lungs change, need more pressure to inflate
What is a Qp/Qs ratio? And what is it used to measure?
Left to right shunt resulting in fully oxygenated blood recirculating through the lungs
Qp: pulmonary flow
Qs: systemic flow
Normal ratio of 1 because volume to lungs is equal to volume systemically
In patient with left to right shunt, Qp/Qs is greater than 1
What can be used to help close a patent ductus arteriosus?
Surgery: ligation, manually or with intravascular coils
NSAIDs: prostaglandin e2 keeps the duct open so block this with indomethacin or ibuprofen
If a pre term baby weighs below 1500g, what nutritional management should be given?
Total parenteral nutrition
Why are pre term babies prone to sepsis?
T and b cells, Opsonins and complement immature, bugs which dont make us ill, will make them ill
What signs might be visible that a pre term baby has necrotising enterocolitis?
Feeding intolerance
Abdominal distension
Bloody stools
Increased gastric residuals: volume of fluid remaining in stomach during enteral nutrition feeding
When are intraventricular haemorrhages most likely to happen in pre term infants?
First 7-14 days
Why are pre term infants particularly prone to intraventricular haemorrhage?
Blood vessels in brain are not fully developed and are fragile
What are the different grades of intraventricular haemorrhage?
Grade 1-2: smaller amount of bleeding, most of the time, no long term problems
Grade 3-4: more severe bleeding, blood presses on (3) or directly involves (4) brain tissue. Blood clots can form and block the flow of CSF which can lead to hydrocephalus
What are symptoms of intraventricular haemorrhage?
Apnoea Changes in BP and heart rate Decreased muscle tone Decreased reflexes Excessive sleep Lethargy Weak suck Seizures or other abnormal movements
What tests can be done to check for intraventricular haemorrhage?
All babies born before 30 weeks should have an ultrasound of the head in 1-2 weeks of life
Second screen around the time baby was due to be born
What is Cystic periventricular leukomalacia?
White matter brain injury characterised by necrosis of white matter near lateral ventricles, decreased blood flow or oxygen to this region, damage to glial cells
Premature infants at highest risk
Motor control problems, developmental delays, develop cerebral palsy or epilepsy later in life
What increases risk of peri ventricular leukomalacia occurring?
If baby has had intraventricular haemorrhage Uterine infections Premature rupture of membranes Premature babies Very low birthweight babies
What problems do pre term babies encounter after delivery?
Get cold even faster
Have more fragile lungs
Don’t breathe effectively
Have fewer reserves
What percentage of babies born at 25 weeks or below develop cerebral palsy?
20%
Disabling cerebral palsy: 12%
What long term neurodevelopmental outcomes are common in pre term babies?
Cerebral palsy/ motor delay Cognitive impairment/ learning difficulties Speech, hearing, visual impairment Epilepsy Behavioural – ADHD, autism
How do we improve outcomes for pre term babies?
Antenatal magnesium sulfate
Antenatal corticosteroids
Better neonatal care
Research
What is magnesium sulfate used for in pre term infants?
IV before birth reduces risk of cerebral palsy and motor dysfunction in preterm infants
You are undertaking normal newborn screening examination on 30 hours old newborn infant on postnatal ward. You note that baby appears jaundiced. What History would you take?
How many weeks gestation? What birth weight? Was the delivery normal and vaginal? Apgar scores at 1 min and 5 min Has baby breast fed satisfactorily? Was the pregnancy uneventful? What is mother's blood group? Did antenatal serology show anything? Has baby passed stools/urine? Meconium? What colour? Are parents both well? Have they had previous pregnancies/babies? Any problems with these?
You are undertaking normal newborn screening examination on 30 hours old newborn infant on postnatal ward. You note that baby appears jaundiced. On examination he was not dehydrated, however he was visibly jaundiced. He was not bruised. There was no splenomegaly but the liver was palpable 1 cm below the costal margin in the mid-clavicular line. There were no other positive findings. What are possible diagnoses?
Physiological jaundice: breakdown of foetal haemoglobin as it is replaced with adult haemoglobin, immature metabolic pathways of the liver which are unable to conjugate and excrete bilirubin as quickly as an adult
Pathological jaundice: lasting >2 weeks, if jaundice doesn’t clear with phototherapy, other causes considered - biliary atresia, progressive familial intrahepatic Cholestasis, bile duct paucity, alagille syndrome, alpha 1-anti trypsin deficiency
What 3 important tests would you do on a recently delivered baby with jaundice?
Transcutaneous bilirubinometer: measures bilirubin levels
Blood groups: group and DCT (direct Coombs test for autoimmune haemolytic anaemia)
FBC/blood film for haemolysis
What management would you use for a recently delivered baby with jaundice?
Monitor bilirubin, ensure feeding, phototherapy (helps conjugation process)
On the post natal ward you performed a routine newborn screening examination on a 2 day old female newborn baby and noted a loud systolic murmur. What further history would you take?
Family history of heart defects? Foetal anomaly scan show anything? Normal vaginal delivery? Any previous pregnancies/babies? How many weeks gestation was baby born at? Apgar scores at 1 min and 5 min Birth weight?
On the post natal ward you performed a routine newborn screening examination on a 2 day old female newborn baby and noted a loud systolic murmur. On examination the child was peripherally cyanosed. The respiratory rate was 60 and heart rate was 140 per minute. There were no added sounds on auscultation of the lungs. Heart sounds were normal. There was an obvious systolic murmur loudest at the left sternal edge. Femoral pulses were easily felt and the liver was palpable 1 cm below the costal margin. What is the likely diagnosis?
Patent ductus arteriosus
What tests would you do on a recently delivered baby with a systolic murmur heard loudest on the left sternal edge?
Pulse oximetry: looking for mixing of deoxygenated and oxygenated blood
Right arm: pre ductal
Left arm: pre or post ductal
Legs: post ductal sats
Want them to be bigh and not much difference between the pre and post
Testing for patent ductus arteriosus
You are asked by midwife to review a baby on labour ward at 30 minutes of age for grunting and tachypnoea. Baby is male infant born at 38 weeks gestation weighing 3.4 kg. what further history would you take?
Pregnancy uneventful? Any group B streptococcus colonisation? Spontaneous onset labour? How long membranes ruptured for? Temperature? CTG normal? Meconium stained liquor? Need much resuscitation at birth? APGAR scores at 1 min and 5 mins Skin to skin contact? Did baby seem comfortable?
You are asked by midwife to review a baby on labour ward at 30 minutes ofage for grunting and tachypnoea. Baby is male infant born at 38 weeks gestation weighing 3.4 kg after 24 hours membrane rupture.
Obs: Temperature 37.9, HR 180, RR 70, Appeared blue, Sats 76%
No apnoeas or bradycardia episodes, signs of respiratory distress – intercostal / subcostal recessions, flaring of alae nasi, air entry good and equal, CRT 4 sec, no murmur, pale, lethargic. What is the differential diagnoses? And what investigations would you perform to help you to distinguish between them?
TTN: transient tachypnoea of newborn - fluid in lungs common in elective pre labour c section
Sepsis: infected from prolonged membrane rupture
Structural problem with heart or lungs
Sepsis 6 pathway, Full blood count, Blood cultures
What antibiotics are given to septic newborns?
Benzylpenicillin and gentamicin
Which biomarker, measured antenatally is associated with failure of formation of the vertebral arches?
Serum alpha feto protein
Which maternal serum tests suggest an increased risk of Down’s syndrome?
PAPP-A reduced Beta HCG raised AFP reduced uE3 reduced Inhibin A raised
What diagnostic testing is offered to mothers of high risk foetuses for Down’s syndrome?
Amniocentesis or chorionic villus sampling
What characteristics would you see on an X-ray in a child with rickets?
Physeal widening
Metaphyseal fraying and cupping
Why might a child with rickets have a waddling gait?
Vitamin d deficiency causes a proximal myopathy
Describe post natal respiratory adaptation that occurs after a baby is born
In utero fetal lung is filled with fluid
Labour, stress, catecholamines and other hormones
Fluid absorbed from lungs into circulation during labour
Minimal fluid removed by compression of chest wall during delivery Cold, noisy, light, touch stimuli
Sensory & Chemoreceptor stimulation causes a gasp and baby cries
Generates negative pressure in lungs, Lungs get inflated and aerated
This leads to further fluid absorption from alveoli
Establishes total lung capacity
Describe the foetal blood supply from placenta to babies systemic circulation
Placenta
Umbilical vein to ductus venosus to IVC to Right atrium to Foramen Ovale to left atrium to left ventricle to aorta
SVC to RA to RV to PA to ductus arteriosus to aorta to brain and body to umbilical arteries to placenta
What happens to the foetal circulation at birth?
Cord clamping, Increases the systemic pressure Lungs inflate, Reduces pulmonary pressure Left heart pressure increases Right heart pressure falls Blood gets oxygenated Ductus venosus closes Foramen Ovale closes Ductus Arteriosus closes
What are signs of failure of cardio-respiratory adaptation after birth?
Breathing difficulty
Poor circulation
Hypoxia – ischaemia
What are principles of resuscitating babies after birth?
Babies are small, wet and lungs are full of fluid so will have respiratory arrest rather than cardiac arrest
Maintain airway (large occiput)
Help with breathing: achieve lung inflation, use air initially rather than oxygen
May need help with circulation
Drugs rarely used
What is the definition of a newborn baby?
Birth to 28 days
What are the cut offs for low birth weight, very low birth weight and extremely low birth weight?
LBW
What is intrauterine growth restriction?
Baby smaller than it should be due to poor growth rates usually assessed using head and abdominal circumference
What are the definitions of small and large for gestational age?
SGA: B. Wt 90th percentile for baby’s gestational age, maternal diabetes
What should you do once baby is born?
Delay cord clamping in uncompromised term infants for 1 minute after complete delivery of baby
Cut the cord
Skin to skin contact
What is the ideal temperature for a newborn baby to be? What ways can it generate and lose heat?
Ideal temperature close to 37
Heat loss occurs by: Conduction, convection, evaporation and
radiation
Heat production: Hydrolysis of triglycerides in brown fat using oxygen
What are risk factors for a newborn finding it difficult to maintain its own temperature?
Large surface area for a small body mass Wet Prematurity IUGR babies Hypoxic / unwell baby Environment
What are the clinical effects of hypothermia in a newborn baby?
Reduced surfactant synthesis Reduced surfactant efficiency Increased oxygen requirement Increased utilisation of calorie reserves Hypoglycemia Increased postnatal weight loss
How much weight is it normal for a baby to lose after birth? How much should they then regain?
Normal to lose weight upto 5-7% of total body weight in first ten days
From then on babies gain 10 to 15 g/kg/day, Roughly 1 oz per day in term babies
About 200 grams/ week in first few weeks
Double birth weight by 5 to 6 months
How many calories do term babies require? How many calories do they get from milk?
Term babies require 100kcal/kg/day
Breast milk provides 70kcal/100ml, 1.3 gm protein,4.1 gm fat,7.2 gm carbohydrates
What is colostrum?
First milk produced during late pregnancy/prior to giving birth
Contains antibodies (IgA, IgG, IgM) and lymphocytes
High protein concentration, NaCl and vit A
Lower concentration of carbs, lipids and K
Describe the composition of breast milk
Fat: supply energy, build cell membranes, long chain polyunsaturated fatty acids, essential fatty acids help in cognitive development and improved retinal function
Carbohydrates: Lactose converted to lactic acid by lacto bacillis protects gut
Protein: Whey based easily absorbed, antibodies, enzymes
Lactoferrin: innate immune response at mucoses
What are some of the benefits of breast milk?
Protects against respiratory/gastrointestinal infections Reduces risk of NEC in preterm babies Reduces incidence of allergy and atopy Increases cognitive development Improves bonding
When are baby checks carried out and who can perform them?
Prior to discharge and at 6 to 8weeks
Midwife, ANNP, paediatrician or GP
What factors in the history are important when performing a newborn baby check?
Antenatal History: mother’s medical history, pregnancy history (mum’s hand held record)
Family History of Developmental Dysplasia of Hips
Ethnic origin: TB risk, BCG vaccination
Delivery: Breech presentation, need Hip USS
Explore parental concerns, feeding
What are important aspects of the newborn baby examination?
Check weight, HC, length and plot on UK - WHO Growth chart
Detailed head to toe examination with infant undressed
Eyes: red reflex
Cleft palate
Heart: murmur and femoral pulses
Hips
What is a Mongolian blue spot?
Birthmark
Flat, blue-grey in colour
Most common at base of spine, buttocks or lower back
Describe post natal respiratory adaptation that occurs after a baby is born
In utero fetal lung is filled with fluid
Labour, stress, catecholamines and other hormones
Fluid absorbed from lungs into circulation during labour
Minimal fluid removed by compression of chest wall during delivery Cold, noisy, light, touch stimuli
Sensory & Chemoreceptor stimulation causes a gasp and baby cries
Generates negative pressure in lungs, Lungs get inflated and aerated
This leads to further fluid absorption from alveoli
Establishes total lung capacity
Describe the foetal blood supply from placenta to babies systemic circulation
Placenta
Umbilical vein to ductus venosus to IVC to Right atrium to Foramen Ovale to left atrium to left ventricle to aorta
SVC to RA to RV to PA to ductus arteriosus to aorta to brain and body to umbilical arteries to placenta
What happens to the foetal circulation at birth?
Cord clamping, Increases the systemic pressure Lungs inflate, Reduces pulmonary pressure Left heart pressure increases Right heart pressure falls Blood gets oxygenated Ductus venosus closes Foramen Ovale closes Ductus Arteriosus closes
What are signs of failure of cardio-respiratory adaptation after birth?
Breathing difficulty
Poor circulation
Hypoxia – ischaemia
What are principles of resuscitating babies after birth?
Babies are small, wet and lungs are full of fluid so will have respiratory arrest rather than cardiac arrest
Maintain airway (large occiput)
Help with breathing: achieve lung inflation, use air initially rather than oxygen
May need help with circulation
Drugs rarely used
What is the definition of a newborn baby?
Birth to 28 days
What are the cut offs for low birth weight, very low birth weight and extremely low birth weight?
LBW
What is intrauterine growth restriction?
Baby smaller than it should be due to poor growth rates usually assessed using head and abdominal circumference
What are the definitions of small and large for gestational age?
SGA: B. Wt 90th percentile for baby’s gestational age, maternal diabetes
What should you do once baby is born?
Delay cord clamping in uncompromised term infants for 1 minute after complete delivery of baby
Cut the cord
Skin to skin contact
What is the ideal temperature for a newborn baby to be? What ways can it generate and lose heat?
Ideal temperature close to 37
Heat loss occurs by: Conduction, convection, evaporation and
radiation
Heat production: Hydrolysis of triglycerides in brown fat using oxygen
What are risk factors for a newborn finding it difficult to maintain its own temperature?
Large surface area for a small body mass Wet Prematurity IUGR babies Hypoxic / unwell baby Environment
What are the clinical effects of hypothermia in a newborn baby?
Reduced surfactant synthesis Reduced surfactant efficiency Increased oxygen requirement Increased utilisation of calorie reserves Hypoglycemia Increased postnatal weight loss
How much weight is it normal for a baby to lose after birth? How much should they then regain?
Normal to lose weight upto 5-7% of total body weight in first ten days
From then on babies gain 10 to 15 g/kg/day, Roughly 1 oz per day in term babies
About 200 grams/ week in first few weeks
Double birth weight by 5 to 6 months
How many calories do term babies require? How many calories do they get from milk?
Term babies require 100kcal/kg/day
Breast milk provides 70kcal/100ml, 1.3 gm protein,4.1 gm fat,7.2 gm carbohydrates
What is colostrum?
First milk produced during late pregnancy/prior to giving birth
Contains antibodies (IgA, IgG, IgM) and lymphocytes
High protein concentration, NaCl and vit A
Lower concentration of carbs, lipids and K
Describe the composition of breast milk
Fat: supply energy, build cell membranes, long chain polyunsaturated fatty acids, essential fatty acids help in cognitive development and improved retinal function
Carbohydrates: Lactose converted to lactic acid by lacto bacillis protects gut
Protein: Whey based easily absorbed, antibodies, enzymes
Lactoferrin: innate immune response at mucoses
What are some of the benefits of breast milk?
Protects against respiratory/gastrointestinal infections Reduces risk of NEC in preterm babies Reduces incidence of allergy and atopy Increases cognitive development Improves bonding
When are baby checks carried out and who can perform them?
Prior to discharge and at 6 to 8weeks
Midwife, ANNP, paediatrician or GP
What factors in the history are important when performing a newborn baby check?
Antenatal History: mother’s medical history, pregnancy history (mum’s hand held record)
Family History of Developmental Dysplasia of Hips
Ethnic origin: TB risk, BCG vaccination
Delivery: Breech presentation, need Hip USS
Explore parental concerns, feeding
What are important aspects of the newborn baby examination?
Check weight, HC, length and plot on UK - WHO Growth chart
Detailed head to toe examination with infant undressed
Eyes: red reflex
Cleft palate
Heart: murmur and femoral pulses
Hips
What is a Mongolian blue spot?
Birthmark
Flat, blue-grey in colour
Most common at base of spine, buttocks or lower back
What does WHO recommend in terms of breast feeding duration?
6 months exclusive breast feeding with gradual introduction of solid foods after this point
Are mothers who are HIV positive who have HIV negative babies able to breast feed?
Yes, provided they have satisfactory anti retroviral therapy
What is klinefelters syndrome?
Karyotype XXY Hypergonadotrophic hypogonadism (elevated LH and FSH) Tall stature, hypogonadal appearance, reduced IQ
What is fragile X syndrome?
Notch in the arm of the X chromosome
Large testes, big ears and low IQ
What is klinefelters syndrome?
Karyotype XXY Hypergonadotrophic hypogonadism (elevated LH and FSH) Tall stature, hypogonadal appearance, reduced IQ
What is fragile X syndrome?
Notch in the arm of the X chromosome
Large testes, big ears and low IQ
Which 3 cardiac defects are most commonly present in Down syndrome babies?
AV septal defect
Ventricular septal defect
Patent ductus arteriosus
What characteristics would a child born with achondroplasia have?
Short arms and legs Genu varum Fingers and toes all the same length Lumbar lordosis Normal intellect and life expectancy Membranous bone growth normal so normal size heads and trunks
What is the method of inheritance of achondroplasia?
Autosomal dominant
A 15 year old male presents to his GP complaining of having breasts. On examination he is tall and slim, has bilateral gynaecomastia and poor pubertal development. What is the likely karyotype?
47 XXY
Kleinfelters syndrome
What signs and symptoms might a baby born with turners syndrome have?
Lymphoedema of hands and feet
Webbed neck
Coarctation of the aorta
What is legg calve perthes disease?
Idiopathic osteonecrosis of the femoral head
Common in boys 5-11 years
Pain on all hip movements, difficulty weight bearing, limp
Irregularity of femoral head seen on imaging
What is SUFE?
Slipped upper femoral epiphysis
Occur in teenagers
MRI show fracture through growth plate with displaced femoral head
How many vomits in 24 hours is a red flag for a child?
More than 6
What questions are important in previous medical history for a child?
Antenatal history Birth history / scbu admission Growth and development - milestones Immunisations Previous admissions/operations Allergies
What is a serious complication of measles?
Subacute sclerosing panencephalitis
What vaccines should a child have at 2 months?
DTaP: diphtheria, tetanus, acellular pertussis / IPV: inactivated polio vaccine / Hib: haemophilus influenzae type b
PCV: pneumococcal conjugate vaccine
Rotavirus oral
What vaccines should a child have at 3 months?
DTaP: Diptheria, tetanus, pertussis / IPV: inactivated polio vaccine / Hib: haemophilus influenzae type b
MenC
Rotavirus oral
What vaccines should a child have at 4 months?
DTaP / IPV / Hib
PCV
What vaccines should a child have at 12-13 months?
Hib / MenC
PCV
MMR
What vaccines should a child have at 40 months?
DTaP/ IPV
MMR
What should a child be doing by 6 months of development?
Turns head to side when called Smiles back Responds to sound with sound Sits without support for short time Likes social play - peek a boo
What should a child be doing by 12 months of development?
Simple gestures - shaking head or waving bye bye Pulls up to stand Copies you during play Responds when told no Says mama dada
What should a child be doing by 18 months?
Plays pretend - talking on toy phone Points to interesting things Several singe words Walks without help Looks at something when you point to it
What should a child be doing by 2 years of development?
2-4 word phrases Shows more interest in other children Follow simple instructions Kicks a ball Points to something when you name it
What should a child be doing by 3 years of development?
Shows affection for playmates Uses 4-5 word sentences Copies adults and playmates Climbs well Plays make believe with dolls, animals and people
What should children be doing by 4 years of development?
Follows 3 step commands Hops and can stand on one foot for 5 seconds Uses 5-6 word sentences Shares and takes turns Draws circles and squares
What is important in a paediatric social history?
Who has parental responsibility Who is at home School or nursery progress/problems Social services contact Housing situation Anyone smoke in the home Parental occupations
What are the 4 types of child abuse?
Physical
Sexual
Emotional
Neglect
What signs might make you worry that a child is suffering physical abuse?
Timing of presentation - late
Story consistent with injury - is this child mobile?
Changing story
Red flag injuries - linear bruises, dip line, cigarette burns, torn frenulum
Signs in the child - frozen watchfulness
What might be signs of neglect that you should look for in a child?
Inappropriate clothing for weather Shoes too small Poor hygiene Height and weight Unmet medical need - nappy rash, eczema, head lice, ringworm, scabies
What neonatal reflexes are there?
Babinski - 9m - 1y Blinking - permanent Grasping - 3m - 1y Moro - 3-4m Rooting - 3-4m Stepping - 3-4m Sucking - 3-4m
What is a normal heart rate for a newborn?
100-170
What’s a normal respiratory rate for a newborn?
40-60
What’s a normal systolic blood pressure for a newborn?
50
What is an innocent heart mumur in a child?
Soft, ejection systolic, left lower eternal edge with normal heart sounds
What are sinister heart murmurs in a child?
Loud: grade 3 or above, harsh
Pansystolic or diastolic
Abnormal heart sounds or added sounds
What is a Harrison’s sulci?
Horizontal groove along the lower border of the thorax corresponding to the costal insertion of the diaphragm; It is usually caused by chronic asthma or obstructive respiratory disease
What are signs of an unwell child?
Respiratory distress: tachypnoea, recession Audible wheeze or stridor Facial swelling Cyanosis Mottling / poor cap refill Decreased consciousness Non blanching rash
What are the 4 domains of early development?
Gross and fine motor
Speech and language
Social and personal
Cognition
What gross motor development should a child go through in their first year?
2 months support their head 5 months roll over 6 months sit supported 9 months stand supported 10 months crawl 11 months stand unsupported
What role does the environment play in a child’s development?
Requires opportunity to practice
Delay can be caused by poverty of stimulation
When does a developmental delay become worrying?
2 standard deviations from the mean
What are milestones of fine motor development?
Grasping 4 months Reaching and whole hand grasp 5 months Transfer hand to hand 6 months Finger feed 7 months Pincer grip 9 months Points at bead 10 months Mature pincer 12 months
What are milestones for speech and language development?
Cooing 6 months Basic sounds 9 months Mama dada 12 months Understand simple questions 18 months 2 word combos 24 months
What are milestones for social development?
Exogenous smile 2 months Stranger anxiety 6 months Peek a boo 9 months Separation anxiety 1 year Selfish 2 years Group play, taking turns 3 years
What effects does cerebral palsy have on development?
Motor domains primary problem
Abnormal tone - initially low then spasticity develops
Cognitive, oromotor, sensory problems
Hemiplegia - hand preference at
What developmental problems does autistic spectrum disorder cause?
Paucity of speech Frequent repetition of words No response to name Reject cuddles Prefer to play alone Avoid eye contact Repetitive movements - hand flapping Repetitive unimaginative play Upset at change to normal routine
What are some developmental red flags?
Can’t sit unsupported by 12 months
Can’t walk by 18 months (m) or 2 years (f)
Can’t walk other than on tiptoes
Can’t run by 2.5 years
Can’t hold object placed in hand by 5 months
Can’t reach for objects by 6 months
Can’t point at objects to share interest with others by 2 years
How do you manage developmental delay?
Detailed assessment
Investigate cause
Is there a reversible cause - talipes slower to walk, erbs palsy slower to roll, hearing problems slow to speak
Agencies that can help - SALT, physio, OT, social services, school, ophthalmology, audiology, dietician
A previously well 9 year old boy presents to GP with a limp of recent onset. His right leg is tender on all movements of the hip. Blood tests are normal. MRI shows an irregular femoral head. What is the most likely underlying diagnosis?
Legg calve perthes disease
Idiopathic osteonecrosis of the femoral head
In what age of child is legg calve perthes disease common?
Boys aged 5-11
A previously well 9 year old boy presents to GP with a limp of recent onset. His right leg is tender on all movements of the hip. Blood tests are normal. MRI shows an irregular femoral head. What is the most likely underlying diagnosis?
Legg calve perthes disease
Idiopathic osteonecrosis of the femoral head
In what age of child is legg calve perthes disease common?
Boys aged 5-11
A 40 year old female gives birth to a baby girl. On examination it is noted that the neonate has hypotonia, small low set eyes and a single palmar crease. What is the likely karyotype?
47 XX+21
Down’s syndrome
A 17 year old female presents with primary amenorrhoea. On examination she is tall, thin and has absent pubic and axillary hair with very little breast development. She has normal appearance of external genitalia. What the likely karyotype and abnormality?
46XY
Androgen insensitivity syndrome
An 8 year old girl is brought to the GP by her mother. The mother is worried as a teacher was concerned that the daughter has immature behaviour and is not performing academically. On examination the girl is tall and has poor coordination. What is the likely karyotype?
47XXX
Triple X syndrome
Name some conditions which are inherited in an autosomal dominant pattern
Adult polycystic kidney disease Multiple endocrine neoplasia 1 Huntingtons chorea Myotonic dystrophy Neurofibromatosis Polyposis coli
An 8 year old boy with a wide nasal bridge, large tongue, clinodactyly and a hx of duodenal atresia attends paediatric outpatient clinic. Which malignancy is the child at increased risk of?
Acute leukaemias
What are risk factors for developmental dysplasia of the hip?
FH Breech presentation Oligohydramnios Large for gestational age Multiple pregnancy Prematurity
What are risk factors for sudden infant death syndrome?
Smoking Baby sleeping on back Sleeping in bed with baby Overheating Not breast feeding Low birth weight/prematurity Age 1-3 months Alcohol/substance use Low SES Duvets/pillows
