6: Approach to the child with developmental delay Flashcards
What is the definition of developmental delay?
Failure to achieve developmental milestones for child’s chronological age
What are the two subtypes of developmental delay?
Global
Specific
Apart from developmental delay, what are two other types of developmental disorder?
Deviation or total lack of skills
Regression of skills
How is developmental delay discovered in children?
By health visitors / GP during screening
OR
By parents
By nursery staff
What is an example of a developmental
a) delay
b) deviation
c) regression?
a) Learning disabilities (global or specific e.g dyslexia and dysgraphia)
Down syndrome
b) Autism spectrum disorders
c) Rett’s syndrome (caused progressive regression of eye movement among other things)
What are some developmental red flags?
Asymmetry of movement (i.e hand dominance in the very young)
Not reaching for objects by 6 months
Unable to sit unsupported by 12 months
Unable to walk by 18 months
No speech by 18 months
Vision or hearing problems
LOSS of skills
Failure to achieve developmental milestones is a red flag for developmental disorders. By which age should infants be able to:
a) walk
b) reach for objects
c) sit up properly
d) talk?
a) Walking - 18 months (median is 12)
b) Reaching for objects - 6 months
c) Sit up properly - 6 months (median is 3)
d) Talk - 24 months (median is 18)
Why is asymmetrical movement at a young age an example of a developmental red flag?
Children shouldn’t have dominant hands / sides until later on in development
What should be checked in children who cannot walk by 18 months?
Why?
CK
Screen for muscle-wasting diseases like Duchenne muscular dystrophy
What is global developmental delay?
Delay in two or more of
Gross / fine motor skills
Speech and language
Cognition
Social personal skills
ADL
What is global developmental delay called in children of school age?
Learning disability
Do children with global developmental delay eventually catch up with others?
No, so “delay” is a misnomer
As age increases the gap between affected and unaffected widens
Global developmental delay commonly has a ___ cause.
genetic
What are two genetic diseases which cause global developmental delay?
Down syndrome
Fragile X syndrome
Which genetic defect causes Down syndrome?
Trisomy 21
Apart from a global developmental delay, what is the physical presentation of Down syndrome?
Short stature
Slanted eyes
Excess skin at back of neck
Flat nose
Small mouth and protruding tongue
What are important systemic complications of Down syndrome?
C1/C2 instability
Congenital heart disease (AVSD, VSD, valve disease, Tetralogy of Fallot)
Hypothyroidism
Which genetic disease, characterised by a long face, causes global developmental delay?
Fragile X syndrome
What are some specific motor delays?
Duchenne muscular dystrophy
Cerebral palsy
Coordination disorders e.g dyspraxia
What is the Gower maneouvre?
What causes it?
What specific motor developmental delay is it associated with?
When child stands up, they need to walk their legs together from a crawling position
Pelvic instability
Duchenne muscular dystrophy
What is the mode of inheritance of Duchenne muscular dystrophy?
X-linked recessive
so most commonly affects boys
Apart from the Gower manoeuvre, what is another MSK sign of DMD?
Increased lumbar lordosis
again due to pelvic instability
What is a neurological cause of specific motor developmental delay?
What specific type of the disease causes stiffness and spasticity in the lower limbs?
Cerebral palsy
Spastic diplagia
What type of gait is associated with spastic diplagia?
Intoeing gait
Which primitive motor reflex persists in some types of cerebral palsy?
When is it normally lost?
ATNR / “Fencing reflex”
6 months
Apart from motor issues, what problems are seen in cerebral palsy?
Epilepsy
Hearing / vision problems
Sleep problems
If a child with cerebral palsy is having particular difficulty moving, what may accompany their disorder?
Visual impairment
What is a pigmentation disorder which causes visual impairment?
Oculocutaneous albinism
Which syndrome causes facial deformity and hearing impairment?
Treacher-Collins syndrome
What is a disorder which causes developmental deviation?
Autism spectrum disorders
What is the triad of presentations seen in autism?
Difficulties with social interaction
Communication difficulties
Difficulty thinking / applying ideas
plus repetitive speech, tics etc
Apart from the classical triad (communication, social interaction and inflexible thought), what are other features of autism?
Repetitive, restrictive behaviour
Sensory problems (hearing, vision)
People with autism tend to be more ___ than they are ___.
(receptive , expressive)
more expressive than receptive
What is a genetic disease associated with pigmented skin lesions and hearing loss?
What is its mode of inheritance?
Neurofibromatosis type 1
Autosomal dominant
What is an infection which causes hearing problems and is common in young children?
How can it be treated?
Secretory otitis media / “glue ear”
Self-limiting - severe infection treated by antibiotics (usually amoxicillin), if chronic then tympanocentesis and insertion of a gromett (myringotomy) tube
What are the two types of hearing loss?
What is the difference between them?
1) Conductive and 2) sensorineural
1. Air conduction is LESS than bone conduction (blocked)
2. Air conduction and bone conduction are the same
Ear infections (otitis media) commonly cause which type of hearing loss?
Conductive hearing loss
What is a metabolic disorder which causes a developmental regression if undiagnosed?
Phenylketonuria
