Paediatrics: Development Flashcards
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
What are the limb features of Down’s syndrome?
Brachydactyly - short hands Clindactyly - incurved fingers/hands Sandle toes Hypotonia Single palmar crease Short stature
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
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
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
What is the diagnostic test for Down’s (after clinical presentation is known)?
- FISH - gene typing to demonstrate trisomy 21
2. Amniocentesis > 15 weeks
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
When does a squint typically develop?
During infancy at roughly 3 months
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
What is the primary cause of the concomitant squint?
Refractive errors causing a failure in binocular vision development
- often associated with neuro-developmental delay
What is the primary cause of paralytic squints?
Cranial nerve motor palsy due to space occupying lesions (SOL)
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
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
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
What is the most common cause of blindness in children?
Down’s syndrome causing cataracts and glaucoma
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
What are the key congenital causes of blindness?
- Infection - rubella, CMV
- Rb
- congenital cataracts
- Albinism
What are the most common causes of deafness post-natal?
Meningitis
Aminoglycosides e.g. gentamicin
OM
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
- SALT, education suport
- SSRIs (anxiety and depression), anti-convulsants (if seizures present)
How do you diagnose fragile X?
- 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
- 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 - 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
