6: Approach to the child with developmental delay Flashcards

1
Q

What is the definition of developmental delay?

A

Failure to achieve developmental milestones for child’s chronological age

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2
Q

What are the two subtypes of developmental delay?

A

Global

Specific

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3
Q

Apart from developmental delay, what are two other types of developmental disorder?

A

Deviation or total lack of skills

Regression of skills

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4
Q

How is developmental delay discovered in children?

A

By health visitors / GP during screening

OR

By parents

By nursery staff

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5
Q

What is an example of a developmental

a) delay
b) deviation
c) regression?

A

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)

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6
Q

What are some developmental red flags?

A

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

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7
Q

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

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)

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8
Q

Why is asymmetrical movement at a young age an example of a developmental red flag?

A

Children shouldn’t have dominant hands / sides until later on in development

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9
Q

What should be checked in children who cannot walk by 18 months?

Why?

A

CK

Screen for muscle-wasting diseases like Duchenne muscular dystrophy

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10
Q

What is global developmental delay?

A

Delay in two or more of

Gross / fine motor skills

Speech and language

Cognition

Social personal skills

ADL

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11
Q

What is global developmental delay called in children of school age?

A

Learning disability

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12
Q

Do children with global developmental delay eventually catch up with others?

A

No, so “delay” is a misnomer

As age increases the gap between affected and unaffected widens

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13
Q

Global developmental delay commonly has a ___ cause.

A

genetic

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14
Q

What are two genetic diseases which cause global developmental delay?

A

Down syndrome

Fragile X syndrome

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15
Q

Which genetic defect causes Down syndrome?

A

Trisomy 21

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16
Q

Apart from a global developmental delay, what is the physical presentation of Down syndrome?

A

Short stature

Slanted eyes

Excess skin at back of neck

Flat nose

Small mouth and protruding tongue

17
Q

What are important systemic complications of Down syndrome?

A

C1/C2 instability

Congenital heart disease (AVSD, VSD, valve disease, Tetralogy of Fallot)

Hypothyroidism

18
Q

Which genetic disease, characterised by a long face, causes global developmental delay?

A

Fragile X syndrome

19
Q

What are some specific motor delays?

A

Duchenne muscular dystrophy

Cerebral palsy

Coordination disorders e.g dyspraxia

20
Q

What is the Gower maneouvre?

What causes it?

What specific motor developmental delay is it associated with?

A

When child stands up, they need to walk their legs together from a crawling position

Pelvic instability

Duchenne muscular dystrophy

21
Q

What is the mode of inheritance of Duchenne muscular dystrophy?

A

X-linked recessive

so most commonly affects boys

22
Q

Apart from the Gower manoeuvre, what is another MSK sign of DMD?

A

Increased lumbar lordosis

again due to pelvic instability

23
Q

What is a neurological cause of specific motor developmental delay?

What specific type of the disease causes stiffness and spasticity in the lower limbs?

A

Cerebral palsy

Spastic diplagia

24
Q

What type of gait is associated with spastic diplagia?

A

Intoeing gait

25
Q

Which primitive motor reflex persists in some types of cerebral palsy?

When is it normally lost?

A

ATNR / “Fencing reflex”

6 months

26
Q

Apart from motor issues, what problems are seen in cerebral palsy?

A

Epilepsy

Hearing / vision problems

Sleep problems

27
Q

If a child with cerebral palsy is having particular difficulty moving, what may accompany their disorder?

A

Visual impairment

28
Q

What is a pigmentation disorder which causes visual impairment?

A

Oculocutaneous albinism

29
Q

Which syndrome causes facial deformity and hearing impairment?

A

Treacher-Collins syndrome

30
Q

What is a disorder which causes developmental deviation?

A

Autism spectrum disorders

31
Q

What is the triad of presentations seen in autism?

A

Difficulties with social interaction

Communication difficulties

Difficulty thinking / applying ideas

plus repetitive speech, tics etc

32
Q

Apart from the classical triad (communication, social interaction and inflexible thought), what are other features of autism?

A

Repetitive, restrictive behaviour

Sensory problems (hearing, vision)

33
Q

People with autism tend to be more ___ than they are ___.

(receptive , expressive)

A

more expressive than receptive

34
Q

What is a genetic disease associated with pigmented skin lesions and hearing loss?

What is its mode of inheritance?

A

Neurofibromatosis type 1

Autosomal dominant

35
Q

What is an infection which causes hearing problems and is common in young children?

How can it be treated?

A

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

36
Q

What are the two types of hearing loss?

What is the difference between them?

A

1) Conductive and 2) sensorineural

1. Air conduction is LESS than bone conduction (blocked)

2. Air conduction and bone conduction are the same

37
Q

Ear infections (otitis media) commonly cause which type of hearing loss?

A

Conductive hearing loss

38
Q

What is a metabolic disorder which causes a developmental regression if undiagnosed?

A

Phenylketonuria