Paediatrics: Development Flashcards by Anish Chandrasekar

What are the facial features of Down’s syndrome?

Short neck
Round face 
Flat Occiput
Flat facial features e.g. nose 
Prominent epicanthic folds 
Up-slanting eyes 
Brushfield spots in iris 
Low set ears 
Small mouth 
Protruding tongue

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What are the limb features of Down’s syndrome?

Brachydactyly - short hands 
Clindactyly - incurved fingers/hands
Sandle toes
Hypotonia 
Single palmar crease 
Short stature

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What are the long term features of Down’s syndrome? (do not list complications)

Social skills far exceed educational attainment 
Global gross + fine motor development 
Hypothyroidism and features 
Low intellect (IQ 25-70) 
Visual disturbances - cataracts 
Deafness - secretory otitis media

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What are the possible screening tests for Down’s syndrome in the 1st trimester?

Foetal mapping
Combined test (11 - 13+6wks) - nuchal translucency, raised BHCG, Low PAPP-A
Chorionic villous sampling < 13 weeks

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What are the screening tests for Down’s during 2nd trimester?

Quadruple test (14-20 weeks) - Raised BHCG, Inhibin-A; Low AFP and UE-3

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What is the diagnostic test for Down’s (after clinical presentation is known)?

FISH - gene typing to demonstrate trisomy 21

2. Amniocentesis > 15 weeks

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What are the management options for Down’s?

Referral for developmental delay unit, USS of hip, visual assessment, cardiac service (echocardiogram)
TFTs - annual check
Physiotherapy - for tone and posture

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When does a squint typically develop?

During infancy at roughly 3 months

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What are the two main types of squints in children? Describe their features

Concomitant (non-paralytic)
- Convergent (estropia) - inward facing
- Divergent (extropia) - outward facing
Paralytic
- Occularmotor - ptosis, proctosis, pupil looks down and out
- Trochlear - diplopia, inability to look down, pupil pointing up
- Abducens - diplopia, inability to look lateral

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What is the primary cause of the concomitant squint?

Refractive errors causing a failure in binocular vision development
- often associated with neuro-developmental delay

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What is the primary cause of paralytic squints?

Cranial nerve motor palsy due to space occupying lesions (SOL)

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How do you test a squint?

Observation of epicanthic folds
Cover test
Uncover test
Corneal light reflex - normal eye fixates central, squint eye slightly off centre

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What are the types of squint?

convergent aka. estropia (common in concomitant)
divergent aka. extropia
paralytic - occulomotor, trochlear, abducens
Pseudo - due to large epicanthic folds
Latent

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What is the management pathway for squint?

Refer to ophthalmologist if squint > 3 months; paralytic squint; if convergent squint investigate for retinoblastoma and cataracts
MRI/CT if SOL suspected
Glasses - correct refractive error of concomitant
Orthoptics - eye cover on good eye to train bad eye
Occular - mydriatic drops or 1% cyclopentoate
Opperation - eye movement exercises –> surgery if all else fails

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What is the most common cause of blindness in children?

Down’s syndrome causing cataracts and glaucoma

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What vitamin deficiency is linked with blindness in children? what are the symptoms?

Vitamin.A deficiency due to malabsorption from lack of supplementation

Xerophthalmia - dry cornea and conjunctiva
Absent night vision
Corneal ulcers + scarring

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What are the key congenital causes of blindness?

Infection - rubella, CMV
Rb
congenital cataracts
Albinism

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What are the most common causes of deafness post-natal?

Meningitis
Aminoglycosides e.g. gentamicin
OM

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What are the signs of deafness in a child?

Delayed language and speech development
Delayed social skills development
Behavioural issues - dissobediant
Painful ear - OM

What are the signs of deafness in a child?

Delayed language and speech development
Delayed social skills development
Behavioural issues - disobedient
Painful ear - OM

What are the management options for deafness?

Hearing aid
Cochlear implant
Sign language education

What causes Fragile X syndrome

Triplet expansion in FRAXA gene of chromosome.X27.3

Who does fragile X affect symptomatically?

Males - 2nd biggest cause of learning difficulties

2. Females with full triplet expansion of FRAXA triple gene (50%) - causes learning difficulty

What are the features (physical and developmental) a/w fragile X?

Physical

macrocephaly
long face, broad forehead, prominent extroverted ears, prominent mandible
high arched palate, dental crowding
strabismus (squint)
flat feet, hollow chest
joint laxity, hypotonia (important!!)
macro-orchidism

Mental

global development delay
severe learning difficulty - IQ 20-80
anxiety
depression
autism - impaired social function, delayed speech and language, gaze avoidance, inability to deviate from routine

What is the treatment for Fragile X?

No treatment - must manage social and medical issues 1. SALT, education suport 2. SSRIs (anxiety and depression), anti-convulsants (if seizures present)

How do you diagnose fragile X?

1. Karyotyping or FISH

What is the inheritance chance of Fragile X if mother is a carrier? Who is more affected?

- 50% - Males more affected, only one X chromosome - Females less affected, two X chromosomes

What are the features of Turner's syndrome?

``` Hydrops Heart shaped face, webbed short neck, Broad chest, wide nipples Puffy feat, Lymph-adenoma, ``` Aortic coarctation, horse-shoe kidney, infertility

What are the features of Noonans syndrome?

Triangle shaped head, curly wooly hair, flat nose, webbed neck, hyper, abnormal ears, ptosis, hypertelorism, pectus excavartum, wide nipples, short stature

What are the features of Angelman's syndrome?

Wide based ataxic gate, Specific personality phenotype - smiling, laughing, happy, hand flapping Speech impairment

What are the features of Prader-willi?

``` Hyperphagia, central obesity hypotonia micro-gonadism cryptorchidism Short stature, small hands, small feet ```

What are the features of Patau syndrome?

``` Microcephaly Small eyes Cleft lip/palate Polydactyly with overlapping fingers Cryptorchidism Severe mental retardation Scalp lesions ```

What are the features of Osteogenesis imperfect

LBW, small stature, scoliosis Blue tinge in eye Hyperflexible and loose joints

What are the features of William's syndrome?

Hypertelorism, flat bridge of nose, short stature Elfin face, full cheeks, wide mouth, fat lips, epicanthic folds Over friendly, extrovert personality, short attention span, anxiety Transient hypercalcaemia supra-valvular aortic stenosis

Features of foetal alcohol syndrome?

Short stature, small chin, small nose, epicanthic folds, hypertelorism

What are the feature of tuberous sclerosis?

``` Shagreen patch Adenoma sebaceum ash leaf macule severe intellectual impairment seizures ```

What is the definition of blindness

best corrected visual acuity < 3/60

What is the definition of partial sight

best corrected visual acuity > 3/60 but < 6/60

What are the features of DiGeorge syndrome?

Global developmental delay (75%) Heart defects (75%) Seizures Cleft palate

What are the features of Edward's syndrome?

Trisomy 18 ``` Micrognathia Short stature Low set ears Rockerbottom feet Heart defect ``` Die early

What are the features of Pierre Robin syndrome?

Micrognathia Posterior displacement of tongue - airway obstructed Cleft palate

Who is autism more common in?

Males (75%)

name some autistic spectrum disorders?

Autism, Rett's, Aspergers

What are the cardinal features of autism?

Speech and language development delay Impaired social interaction Imposition of ritualistic and repetitive behaviour

When i autism noticed and when is it diagnoseD?

Can be noticed as early as 2-4yo and diagnosed at pre-school years Some people are diagnosed much later in socially awkward intelligent children

What are the feature of autism?

``` 1. Impairment of social interaction Does not seek comfort from friends or family Has lack of concern or interest in others feelings Socially inappropriate behaviour Sexually inappropriate behaviour Gaze avoidance Lack of attention Prefers own company ``` 2. Speech and Language development - Delay in overall speech and language - Over pedantic language - Over-literate interpretation of language - Echoes questions - Impaired comprehension - Lack of gestures or facial expression 3. Ritualistic and repetitive behaviour - Hand flapping - Tip-toe walking - Set routines - Anger if deviance from routine - Obsessive compulsive features - Peculiar ideas - Poverty of imagination

What are some of the problems arising from autism?

Socially interaction difficulty Executive function impaired - planning, arranging Perceptual distortion - light, shade, colour, movement Sensory distortion - visual, auditory, tactile Inflexibility of thought and action Central coherence - making corrections