Paeds - community + genetics Flashcards

1
Q

What are the 5 measures of child development?

A
  • Gross motor
  • Fine motor
  • speech and language
  • social, emotional, behavioural
  • hearing and vision
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2
Q

What are the 4 types of child abuse?

A
  • physical abuse
  • sexual abuse
  • emotional abuse
  • neglect
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3
Q

When should you be more aware or suspicious of physical child abuse?

A
  • 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
  • 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)
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4
Q

What are some medical/ nutritional/ educaitonal/ physical presentations of neglect?

A
  • 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
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5
Q

What are some presentations of a child that has been sexually abused?

A
  • 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
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6
Q

What is your responsibility as a medical professional when you suspect child abuse?

A
  • 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
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7
Q

What are some potential differentials of global developmental delay?

A
  • Down’s syndrome
  • Fragile X syndrome
  • foetal alcohol syndrome
  • Rett syndrome
  • Metabolic disorders
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8
Q

What are some differentials for fine and gross motor delay?

A

Gross motor

  • cerebral palsy
  • ataxia
  • myopathy
  • spina bifida
  • visual impairment

Fine motor

  • dyspraxia
  • cerebral palsy
  • muscular dystrophy
  • visual impairment
  • congenital ataxia
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9
Q

What are some differentials for language and social delay?

A

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
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10
Q

Define:

  • Dyslexia
  • Dysgraphia
  • Dyspraxia
  • Auditory processing disorder
  • Non-verbal learning disability
  • Profound and multiple learning disability
A

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

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11
Q

How would you classify the severity of a learning disability?

A

Based on IQ

Mild = 55-70

Moderate = 40-55

Severe = 25-40

Profound = Under 25

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12
Q

What are some features of anorexia nervosa?

A
  • 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

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13
Q

What are some features of bulimia nervosa?

A
  • 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
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14
Q

What is binge eating disorder? How is it different to bulimia?

A

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.

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15
Q

What is the pathophysiology of refeeding syndrome?

A
  • 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
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16
Q

How would you manage refeeding syndrome?

A
  • 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)
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17
Q

What is autism spectrum disorder?

(Use PSYCH NOTES FOR REVISION)

A

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)

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18
Q

How would you manage ADHD in kids?

(Use PSYCH NOTES FOR REVISION)

A
  • 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
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19
Q

What is a personality disorder?

(Use PSYCH NOTES TO REVISE)

A

characterised by patterns of thought, behaviour and emotions that differ from what is normally expected by society

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20
Q

What are some examples of simple and complex tics?

(Use PSYCH NOTES TO REVISE)

A

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
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21
Q

What is Down’s Syndrome and how does it present?

A

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
22
Q

What are some common complications of Down’s syndrome?

A
  • 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
23
Q

How would you diagnose Downs?

A
  • 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
24
Q

How would you manage Downs syndrome?

A

“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
25
Q

What is Turners syndrome?

A

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
26
Q

What are some conditions associated with Turners?

A
  • 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
27
Q

How would you manage Turners?

A
  • 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
28
Q

What is Marfan syndrome?

A

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
29
Q

How would you test for arachnodactyly?

A
  • 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
30
Q

What are some associated conditions of Marfans?

A
  • 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
31
Q

How would you manage Marfans?

A

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
32
Q

What is fragile X syndrome?

A

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.

33
Q

What are some features of fragile x syndrome?

A
  • 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
34
Q

How would you manage fragile X syndrome?

A
  • mainly supportive to treat symptoms
  • MDT to support learning disability, manage autism and ADHD
  • treat seizures if they occur
35
Q

What is Prader-Willi Syndrome?

A

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.

36
Q

What are some features of Prader-Willi syndrome?

A
  • 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
37
Q

How would you manage prader-willi syndrome?

A
  • 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
38
Q

What is angelman syndrome?

A
  • 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
39
Q

What are some features of angelman syndrome?

A
  • 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
40
Q

How would you manage angelman syndrome?

A

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
41
Q

What is William syndrome?

A
  • 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.
42
Q

How does William syndrome present?

A
  • 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
43
Q

What are some conditions associated with Williams Syndrome?

A
  • supravalvular aortic stenosis (narrowing just above the aortic valve)
  • ADHD
  • hypertension
  • hypercalcaemia
44
Q

How would you manage Williams Syndrome?

A
  • 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
45
Q

What is cerebral palsy?

A

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

46
Q

What are some causes of cerebral palsy?

A

Antenatal

  • maternal infections
  • trauma during pregnancy

Perinatal

  • birth asphyxia
  • pre-term birth

Postnatal

  • meningitis
  • severe neonatal jaundice
  • head injury
47
Q

How does cerebral palsy present?

A
  • 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
48
Q

What would you see on neuro examination in a child with pathology

A
  • 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
49
Q

what are some complications and associated conditions for cerebral palsy?

A
  • Learning disability
  • epilepsy
  • kyphoscoliosis
  • muscle contractures
  • hearing and visual impairment
  • gastro-oesophageal reflux
50
Q

How would you manage cerebral palsy?

A

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
51
Q

What are 3 common fractures to be concerned about safeguarding wise

A

Radial

Humeral

Femoral