Approach to the Child with Developmental Delay

Question 1

what is developmental delay?

Answer 1

failure to attain appropriate developmental milestone for child’s corrected chronological age

Question 2

what are the 3 patterns of abnormal development?

Answer 2

delay (global - eg down’s syndrome/specific - e.g duchenne muscular dystrophy)
deviation (e.g autistic spectrum)
regression = loss of skills which were once present (e.g Rett’s syndrome, metabolic disorders)

Question 3

what IQ range defines a mild learning disability?

Answer 3

50-70

Question 4

what IQ range defines a severe learning difficulty or intellectual disability?

Answer 4

<50

Question 5

what are the red flags for development?

Answer 5

asymmetry of movement (normal hand dominance is normal, only a problem if neglect of one side)
not reaching for objects by 6 months
unable to sit unsupported by 12 months
unable to walk by 18 months (check CK - looks for muscular dystrophy)
no speech by 18 months
concerns re vision or hearing
loss of skills

Question 6

what is a global developmental delay?

Answer 6

significant delay in 2+ of
- gross/fine motor, speech/language
- cognition, social/personal, ADL
termed learning disability in school age

Question 7

what causes a global developmental delay?

Answer 7

5-25% are genetic

Question 8

in what areas are down’s syndrome children screened?

Answer 8

cardiac
vision (often have trouble moving from distance to close up vision)
hearing
thyroid function
sleep related breathing disorders
growth-charts
development

Question 9

why is the term “developmental delay” somewhat inappropriate for down’s syndrome?

Answer 9

implies that they will catch up
this is not the case in down’s syndrome as the gap in development and IQ etc will actually widen between the child and their normally developing peers

Question 10

what are the 4 groups of specific developmental delays?

Answer 10

motor delays (muscular dystrophy, cerebral palsy, coordination disorders- e.g dyspraxia)
language delays
sensory deficits and associated delays (treacher-collins, oculocutaneous albinism)
developmental deviations (autistic spectrum)

Question 11

how is duchenne muscular dystrophy inherited?

Answer 11

X linked

Question 12

how is duchenne muscular dystrophy characterised?

Answer 12

increased arching of the back as child gets older to compensate for weak pelvic muscles
bulky calves = pseudohypertrophy - muscles replaced by fibrous tissue
gower’s manoeuvre (walking up legs)

Question 13

what are the 3 types of cerebral palsy?

Answer 13

hemiplegic (one side effected)
diplegic (both legs affected - caused by prematurity/injury to foetus if mother has trauma, most common type)
quadriplegic (both arms and legs affected)

Question 14

what causes most cases of cerebral palsy?

Answer 14

antenatal injury

Question 15

what conditions are associated with cerebral palsy?

Answer 15

mobility problems - spasticity and orthopaedic problems
learning difficulties
epilepsy
visual/hearing impairment
communication difficulties
feeding difficulties
sleep problems
behaviour problems

Question 16

what can cause hearing impairment?

Answer 16

bilateral middle ear effusions (“glue ear”)
sensory neuro (damage to auditory nerve)
treacher collins

Question 17

what is the autistic triad of impairment?

Answer 17

communication
social interaction
flexibility of though/imagination (struggle to put themselves in other people’s shoes)

Question 18

what other 2 behaviours are common in autistic spectrum disorders?

Answer 18

restricted, repetitive behaviours

sensory difficulties

Question 19

how is receptive language affected in ASD?

Answer 19

delayed
expressive > receptive
abstract language is difficult
find it more difficult to talk about things they cant actually see, touch etc
visually more able

Question 20

how is expressive language affected in ASD?

Answer 20

delayed
echoes (copy speech of others)
odd intonation/pitch
chunks of video speak

Question 21

how is non-verbal language affected in ASD?

Answer 21

facial expressions, gestures
expect others to just know what they want/need without having to tell them - can get frustrated
trouble with eye contact
trouble recognising intention of others

Question 22

how is use of language affected in ASD?

Answer 22

initiating and sustaining conversation
restricted interests - only interesting to them and want to talk about it
lack of awareness of reciprocal nature of conversation (don’t understand that one person talks, then stops to let the other person talk)

Question 23

how is social interaction affected in ASD?

Answer 23

joint attention and referencing
cant understand turn taking
unable to share pleasure
not motivated by need for social approval (some are, but cant understand why socialising is going wrong)
social rules
empathy
relationships
others point of view/feelings

Question 24

how is flexibility of though/imagination affected in ASD?

Answer 24

theory of mind (think that others should know what they know and think what they think)
concrete and literal (take all language very literally)
concept of time
routines
struggle with changes in environment (sensitive to sensory changes)
ritualistic behaviour

Question 25

what sensory issues are present in ASD?

Answer 25

fussy eater/medications
texture of clothes
sleep - can need specific environment
toilet training
hair washing/cutting
nail cutting
noise (can be fine if they are making the noise as they are in control of it - only if others are making the noise)
can be under or overly sensitive

Question 26

what is the general approach to developmental delay?

Answer 26

history
exam
investigations
assessment

Question 27

important aspects of history?

Answer 27

PMH
perinatal and birth
family and social
developmental
play and behaviour
school/nursery

Question 28

what are the 2 types of hearing impairment?

Answer 28

sensorineural

conductive

Question 29

how is developmental delay investigated?

Answer 29

chromosomes, FRAX and oligoarray CGH
neonatal PKU, thyroid studies, CK
if indicated
- MRI
- EEG
- metabolic studies
- genetic consultation
- others

Question 30

what assessment tools can be used for developmental assessment?

Answer 30

Griffiths (0-8 yrs)
Bayleys (0-3)
schedule of growing skills (0-5)
ADOS (ASD)