Paeds - community + genetics Flashcards
What are the 5 measures of child development?
- Gross motor
- Fine motor
- speech and language
- social, emotional, behavioural
- hearing and vision
What are the 4 types of child abuse?
- physical abuse
- sexual abuse
- emotional abuse
- neglect
When should you be more aware or suspicious of physical child abuse?
- young kids especially those <2 years old are at highest risk
features of a hx that should raise your suspicion are…
- mechanism of injury not compatible with the injury sustained
- childs developmental stage inconsistent with the injury
- Eg. a 3 month old sitting up and banging its head when…
- sitting without support, commando crawling, wriggling, stands holding to furniture = 9 months
- standing without support, bum shuffles, crusing on furniture, unsteady walking = 12 months
- walking without support, crawling upstairs = 15 months
- jumping on 2 feet = 30 months
- Eg. a 3 month old sitting up and banging its head when…
- significant injury with little/no explanation
- inconsistent hx given
- delay in presenting child to health care providers
- recurrent injuries
- parents reaction not appropriate to situation (eg. overly concerned, aggressive, elusive, vague)
What are some medical/ nutritional/ educaitonal/ physical presentations of neglect?
- Medical = unimmunised, missed appointments, poor compliance with medication, failure to seek appropriate or timely medical help
- Nutritional = faltering growth due to failure to provide sufficient diet, obesity due to failure to control lifestyle
- Educational = poor school attendance
- Physical = inadequate hygiene, severe or persistent infections or infestations, inappropriate clothing for childs size and weather
- Failure to supervise eg. frequent A&E attendances, injuries like burns or scalds that suggest lack of care, ingestion of harmful substances
What are some presentations of a child that has been sexually abused?
- allegation
- pregnancy
- sti
- ano-genital injury
- unexplained vaginal bleeding
- unexplained rectal bleeding
- recurrent vaginal discharge
- soiling, bowel problems, enuresis
- behavioural difficulties
- being around an adult that has been identified as a risk to children
What is your responsibility as a medical professional when you suspect child abuse?
- have a low threshold if you have concerns
- document everything clearly in patient notes
- sign, date, time all entries
- seek advice from senior colleagues on how to proceed
- go up in seniority or contact doctor/nurse in charge of safe guarding if the advice is not sufficient
- communicate with nursing staff
- dont ask leading questions during disclosure (can affect case if it goes to court)
- reassure child you believe them, they are not in trouble, listen to everything, however do not make promises you cannot keep
What are some potential differentials of global developmental delay?
- Down’s syndrome
- Fragile X syndrome
- foetal alcohol syndrome
- Rett syndrome
- Metabolic disorders
What are some differentials for fine and gross motor delay?
Gross motor
- cerebral palsy
- ataxia
- myopathy
- spina bifida
- visual impairment
Fine motor
- dyspraxia
- cerebral palsy
- muscular dystrophy
- visual impairment
- congenital ataxia
What are some differentials for language and social delay?
Language
- specific social circumstances eg. exposure to multiple languages
- hearing impairment
- learning disability
- neglect
- autism
- cerebral palsy
Social and personal
- Emotional and social neglect
- Parenting issues
- Autism
Define:
- Dyslexia
- Dysgraphia
- Dyspraxia
- Auditory processing disorder
- Non-verbal learning disability
- Profound and multiple learning disability
Dyslexia = specific difficulty in reading, writing, spelling
Dysgraphia = specific difficulty in writing
Dyspraxia = “developmental co-ordination disorder”. A specific difficulty in physical co-ordination. presents as delayed gross and fine motor skills, a clumsy child.
Auditory processing disorder = specific difficulty in processing auditory information
Non-verbal learning disability = specific difficulty in processing non-verbal information eg. body language and facial expressions
Profound and multiple Learning Disability = severe difficulties across multiple areas, usually requiring help with all aspects of daily life
How would you classify the severity of a learning disability?
Based on IQ
Mild = 55-70
Moderate = 40-55
Severe = 25-40
Profound = Under 25
What are some features of anorexia nervosa?
- excessive weight loss
- amenorrhoea
- lanugo hair across most of the body
- low fsh, lh, oestrogen, testosterone
- hypokalaemia
- high cortisol, gh, hypercholesterolaemia
- hypotension
- hypothermia
- changes in mood, anxiety, depression
- solitude
- means to lose weight eg. diet pills, laxatives, excessive exercise
complications eg. arrhythmia, cardiac atrophy, sudden cardiac death
What are some features of bulimia nervosa?
- alkalosis due to vomiting (seen on abg)
- hypokalaemia
- erosion of teeth
- swollen salivary glands (swelling to face or under jaw)
- mouth ulcers
- gastro-oesophageal reflux and irritation
- calluses on knuckles from being sick = Russell’s sign
- fluctuating body weight or normal body weight
- binge eating followed by “purging” by vomiting, laxatives or excess exercise
What is binge eating disorder? How is it different to bulimia?
Characterised by episodes of excessive eating.
- usually eats very quickly, almost in a “dazed” state
- unrelated to hunger, eats until they are uncomfortably full
Not a restrictive condition like anorexia or bulimia.
What is the pathophysiology of refeeding syndrome?
- typically occurs 3-4 days after eating begins
- occurs in people that have been in severe nutritional deficit for a long period of time, when they eat again
- those at a BMI<20 or who have had little to eat for the past 5 days are at high risk
- lower the BMI and longer the period of malnutrition = higher risk
- prolonged malnutrition causes the metabolism in cells and organs to slow down
- when you start eating again, and your cells need to start processing glucose/protein/fats again, they use up magnesium/potassium/phosphorus
- this leads to low serum electrolytes (Hypomagnesaemia, Hypokalaemia, Hypophosphataemia) and hypoglycaemia
- low phosphate can cause muscle weakness = diaphragmatic deficiency
- These patients become at risk of cardiac arrhythmias, heart failure and fluid overload
How would you manage refeeding syndrome?
- slowly reintroduce food with restricted calories
- monitor magnesium, potassium, phosphate and glucose with other routine bloods
- fluid balance monitoring
- ecg monitoring in severe cases
- supplementation with electrolytes and vitamins (particularly B vitamins and thiamine)
What is autism spectrum disorder?
(Use PSYCH NOTES FOR REVISION)
A range of conditions (eg. Aspergers syndrome and Autistic disorder)
characterised by challenges to social interaction, repetitive behaviours and communication skills (speech and non-verbal)
How would you manage ADHD in kids?
(Use PSYCH NOTES FOR REVISION)
- Pre-school = ADHD focused group parent training programme
- School age = group based support for parents/carers
- liase with school/college/uni if consented
- individual parent training programmes if they don’t like group
- Medications if ADHD is causing severe impairment
- Methylphenidate 1st line
- alternatives = Lisdexamfetamine, dexamfetamine, atomoxetine
- CBT can be used in combo with meds if meds need a little help
-
Monitor child’s weight/height/BP/HR every 6 months to see if medications are affecting their growth
- if so, suggest a planned break over school holidays to allow “catch-up” growth
What is a personality disorder?
(Use PSYCH NOTES TO REVISE)
characterised by patterns of thought, behaviour and emotions that differ from what is normally expected by society
What are some examples of simple and complex tics?
(Use PSYCH NOTES TO REVISE)
Simple tics
- clearing throat
- blinking
- head jerking
- sniffing
- grunting
- eye rolling
examples of Complex tics
- Copropraxia = making obscene gestures
- Coprolalia = saying obscene words
- Echolalia = repeating other peoples words
- etc
What is Down’s Syndrome and how does it present?
3 copies of chromosome 21 = trisomy 21
It gives characteristic dysmorphic features and associated conditions (people can be affected to different degrees)
Dysmorphic features:
- Hypotonia
- Brachycephaly (small head with a flat back)
- short neck
- short stature
- flattened face and nose
- prominent epicanthic folds
- upward sloping palpable fissures
- single palmar crease
What are some common complications of Down’s syndrome?
- Learning disability
- Recurrent otitits media
- Deafness (Eustachian tube abnormalities lead to glue ear and conductive hearing loss)
- Visual problems eg. myopia, strabismus, cataracts
- Hypothyroidism
- Cardiac defects eg. ASD, VSD, PDA, Tetralogy of Fallot
- Atlantoaxial instability
- Leukaemia
- Dementia
How would you diagnose Downs?
-
Combined test between 11-14 weeks gestation
- combines US (measures nuchal translucency which is the thickness of the back of the neck of the foetus, >6mm is suggestive) + Maternal Blood tests
- Maternal blood tests = bHCG (higher result is greater risk), pregnancy-associated plasma protein (lower result is greater risk)
-
Triple test between 14-20 weeks gestation
- involves maternal blood tests = bHCG, Alpha fetoprotein (lower result is greate risk), Serum oestriol (lower result is greater risk)
-
Quadruple test between 14-20 weeks gestation
- identical to triple test but includes maternal blood for inhibin-A (higher inhibinA is greater risk)
- When the risk of Downs is >1/150, the woman is offered amniocentesis or chorionic villus sampling to give a definitive diagnosis of Downs or not
- Non-invasive prenatal Testing is new and involves a blood test from the mother
How would you manage Downs syndrome?
“Management would involve members of the multidisciplinary team”
- occupational therapy
- speech and language therapy
- physiotherapy
- dietician
- paediatrician
- GP
- health visitors
- cardiologist for congenital heart disease
- ENT specialist for ear problems
- audiologist for hearing aids
- optician for glasses
- social services for social care and benefits
- additional support for educational needs
- Charities like Down’s Syndrome Association
What is Turners syndrome?
When a female has a single X chromosome, making them 45XO
Features…
- short stature
- webbed neck
- high arching palate
- downward sloping eyes with ptosis
- broad chest with widely spaced nipples
- cubitus valgus
- underdeveloped ovaries with reduced function
- late or incomplete puberty
- most women are infertile
What are some conditions associated with Turners?
- recurrent otitis media
- recurrent UTI
- coarctation of the aorta
- bicuspid aortic valve
- aortic root dilatation
- horseshoe kidney
- hypothyroidism
- hypertension
- obesity
- diabetes
- osteoporosis
- various specific learning disabilities
How would you manage Turners?
- growth hormone therapy to prevent short stature
- oestrogen and progesterone replacement to establish female secondary sexual characteristics, regulate menstrual cycle, prevent osteoporosis
- Fertility treatment to increase chances of becoming pregnant
- manage treatable conditions like hypertension and hypothyroidism
What is Marfan syndrome?
autosomal dominant condition affecting the gene responsible for fibrillin.
Fibrillin is an important component of connective tissue.
Features:
- tall stature
- long neck
- long limbs
- long fingers (arachnodactyly)
- high arch palate
- hypermobility
- pectus carinatum or pectus excavatum
- downward sloping palpable fissures
How would you test for arachnodactyly?
- Ask them to lay their thumb across their palm
- if the thumb tip goes past the opposite edge of the hand, this indicates arachnodactyly
- Ask them to wrap the thumb and fingers of one hand around the other wrist.
- If the thumb and fingers overlap, this indicates arachnodactyly
What are some associated conditions of Marfans?
- Lens dislocation in the eye
- joint dislocations and pain due to hypermobility
- scoliosis of the spine
- pneumothorax
- gastro-oesophageal reflux
- mitral valve prolapse (with regurg)
- aortic valve prolapse (with regurg)
- aortic aneurysms
How would you manage Marfans?
the greatest associated risk is from cardiac complications eg. valve prolapse and aortic aneurysms
- minimise bp and stress on heart
- lifestyle changes (avoid intense exercise, avoid caffeine and stimulants)
- preventative meds (beta blockers, angiotensin II receptor antagonists)
- consider pregnancy carefully as it carries a significant risk of developing aortic aneurysms
- Physiotherapy to strengthen joints and reduce hypermobility symptoms
- genetic counselling to consider implications of having kids with this condition
- follow up with annual echocardiograms and opthalmologist reviews
What is fragile X syndrome?
A mutation in the FMR1 (Fragile X Mental Retardation 1) gene on the X chromosome
It is X linked so males are always affected, but females vary in how much they are affected as they have a spare normal copy of FMR1 on their other X.
What are some features of fragile x syndrome?
- delay in speech and language development
- intellectual disability
- long narrow face
- large ears
- large testicles after puberty
- hypermobile joints (particularly in hands)
- ADHD
- autism
- seizures
How would you manage fragile X syndrome?
- mainly supportive to treat symptoms
- MDT to support learning disability, manage autism and ADHD
- treat seizures if they occur
What is Prader-Willi Syndrome?
A genetic condition caused by loss of functional genes on the proximal arm of the chromosome 15 (inherited from father).
Can be due to a deletion of this prortion of the chromosome, or when both copies of chromosome 15 are inherited from mother.
What are some features of Prader-Willi syndrome?
- constant insatiable hunger that leads to obesity
- poor muscle tone as an infant (hypotonia)
- mild-moderate learning disability
- hypogonadism
- fairer, soft skin prone to bruising
- mental health problems, particularly anxiety
- dysmorphic features
- narrow forehead
- almond shaped eyes
- strabismus
- thin upper lip
- downturned mouth
How would you manage prader-willi syndrome?
-
limiting access to food under guidance of a dietician to control weight
- locking food in cupboards, lock on fridge, controlling rubbish bins
- usually require lower calorie intake as they typically have lower activity levels due to hypotonia and poor muscle strength
- educate everyone else to limit childs access to food (eg. teachers, relatives, carers)
-
Growth hormone is indicated by NICE
- improves muscle development and body composition
- MDT input = dieticians, education support, social workers, psychologists or psychiatrists, physiotherapists, occupational therapists
What is angelman syndrome?
- a genetic condition caused by loss of function of the UBE3A gene (specifically the copy of the gene that is inherited from the mother)
- can be caused by a deletion on chromosome 15, a specific mutation in this gene, or where two copies of chromosome 15 are contributed by the father with no maternal copy
What are some features of angelman syndrome?
- delayed development and learning disability
- severe delay or absence of speech development
- coordination and balance problems (ataxia)
- fascination with water
- happy demeanour
- inappropriate laughter
- hand flapping
- abnormal sleep patterns
- epilepsy
- ADHD
- dysmorphic features
- microcephaly
- fair skin, light hair, blue eyes
- wide mouth with widely spaced teeth
How would you manage angelman syndrome?
Similarly to other genetic syndromes, there is no cure.
MDT approach to support the patient and carers.
- parental education
- social services and support
- educational support
- physiotherapy
- occupational therapy
- psychology
- CAMHS
- anti-epileptic medication
What is William syndrome?
- deletion of genetic material on one copy of chromosome 7 so the person only has one copy of the genes in that region (on the other chromosome 7)
- usually occurs as a random deletion around conception, not inherited from an affected parent.
How does William syndrome present?
- broad forehead
- starburst eyes (star like pattern on the iris)
- flattened nasal bridge
- long philtrum
- wide mouth, big smile with widely spaced teeth
- small chin
- very sociable trusting personality
- mild learning disability
What are some conditions associated with Williams Syndrome?
- supravalvular aortic stenosis (narrowing just above the aortic valve)
- ADHD
- hypertension
- hypercalcaemia
How would you manage Williams Syndrome?
- MDT approach to support patient and family
- Echocardiograms and BP monitoring to assess for aortic stenosis and HTN
- low calcium diet to control hypercalcaemia
- avoid calcium and vitamin D supplements
What is cerebral palsy?
Permanent neurological problems that result from damage to the brain around the time of birth.
Spastic CP (also known as pyramidal CP) = increased tone and reduced function due to damage to Upper Motor Neurones
Dyskinetic CP (athetoid CP or extrapyramidal CP) = problems controlling muscle tone, hypertonia/hypotonia causing athetoid movements and oromotor problems. The result of damage to the basal ganglia
Ataxic CP= problems with coordinated movement resulting from damage to the cerebellum
Mixed = a mix of spastic, dyskinetic and/or ataxic features
What are some causes of cerebral palsy?
Antenatal
- maternal infections
- trauma during pregnancy
Perinatal
- birth asphyxia
- pre-term birth
Postnatal
- meningitis
- severe neonatal jaundice
- head injury
How does cerebral palsy present?
- hard to predict who will develop cerebral palsy purely based on events in the per-natal period, so follow up at risk children
- eg children with hypoxic-ischaemic encephalopathy
Signs and symptoms…
- failure to meet milestones
- increased or decreased tone, generally or in specific limbs
- hand preference (favouring one hand) below 18 months
- problems with coordination, speech, walking
- feeding or swallowing problems
- learning difficulties
What would you see on neuro examination in a child with pathology
-
Hemiplegic/ diplegic gait
- caused by increased muscle tone and spasticity in the legs
- leg will be extended with plantar flexion of the feet/toes
- indicates an upper motor neurone lesion (good muscle bulk, increased tone, brisk reflexes, slightly reduced or normal power)
- Broad based gait/ ataxic gait
- indicates a cerebellar lesion
- assess coordination to look for cerebellar involvement = DANISH
- High stepping gait
- indicates foot drop or a lower motor neurone lesion
- Waddling gait
- indicates pelvic muscle weakness due to myopathy
- Antalgic gait
- indicates localised pain
- Athetoid movements indicate extrapyramidal (basal ganglia) involvement
what are some complications and associated conditions for cerebral palsy?
- Learning disability
- epilepsy
- kyphoscoliosis
- muscle contractures
- hearing and visual impairment
- gastro-oesophageal reflux
How would you manage cerebral palsy?
management involves a MDT team approach…
- physiotherapy to stretch and strengthen muscles, maximise function and prevent muscle contractures
-
occupational therapy to help patients manage everyday activities
- they also can make adaptations to assist patient eg. rails for assistance or a hoist for a patient who is wheelchair bound
-
speech and language therapy to help with speech and swallowing
- may need NG or PEG tube if swallowing problems is affecting their nutrition
- Dieticians to ensure they meet nutritional requirements
- Orthopaedic surgeons to release contractures or lengthen tendons (tenotomy)
- Social workers, charities, support groups
- Paediatricians can review and optimise medications…
- muscle relaxants eg. baclofen for muscle spasticity and contractures
- anti-epileptic drugs for seizures
- glycopyrronium bromide for excessive drooling
What are 3 common fractures to be concerned about safeguarding wise
Radial
Humeral
Femoral
