Abnormal Development

Question 1

What is developmental delay?

Answer 1

Failure to attain developmental milestones for the child’s corrected chronological age

Question 2

What are the patterns of abnormal development?

Answer 2

Delay = global or specific
Deviation (e.g autism spectrum disorder)
Regression (e.g Rett’s syndrome or metabolic disorders)

Question 3

Is developmental delay common?

Answer 3

Yes

Question 4

What are the red flags for development?

Answer 4

Asymmetry of movement
Not reaching for objects by 6 months
Unable to sit unsupported by 12 months
Unable to walk by 18 months (check CK)
No speech by 18 months
Concerns about vision or hearing
Loss of skills

Question 5

What are some features of global developmental delay?

Answer 5

Affects 1-3% of under 5s
Genetic causes account for 5-25%
Termed learning disability in school age children

Question 6

What is global developmental delay?

Answer 6

Significant delay in 2 or more of gross/fine motor, speech and language, cognition, social/personal skills or ADL

Question 7

What is assessed in the medical screening for Down’s syndrome?

Answer 7

Cardiac function, vision and hearing, thyroid function, sleep related breathing problems, growth charts and development

Question 8

What are the specific developmental delay categories?

Answer 8

Motor delays
Language delays = specific language impairment
Sensory deficits and associated delay
Developmental deviations = autism spectrum disorder

Question 9

What are some causes of specific motor delays?

Answer 9

Duchenne muscular dystrophy, cerebral palsy, co-ordination disorders

Question 10

What are some causes of sensory deficits and their associated delay in development?

Answer 10

Oculocutaneous albinism, Treacher-Collins

Question 11

What is Gower’s sign?

Answer 11

Patient uses hands and arms to walk up their body from squatting position = indicates proximal muscle weakness

Question 12

What are some conditions associated with cerebral palsy?

Answer 12

Mobility problems, spasticity and orthopaedic problems
Learning and communication difficulties
Epilepsy and sleeping problems
Feeding difficulties and behaviour problems
Visual and hearing impairment

Question 13

What three areas make up the autistic triad?

Answer 13

Communication, social interaction, and flexibility of thought/imagination

Question 14

How does autism spectrum disorder tend to manifest generally?

Answer 14

Restricted, repetitive behaviours and sensory difficulties

Question 15

What areas of communication are affected by autism?

Answer 15

Repetitive language, expressive language, non–verbal language and use of language

Question 16

How is repetitive language impacted in autism?

Answer 16

Delayed, expressive>receptive, abstract language difficult, visually more able

Question 17

How is expressive language impacted in autism?

Answer 17

Delayed, echoes, odd intonation or pitch, chunks of video speak

Question 18

What types of non-verbal language are impacted by autism?

Answer 18

Facial expressions, gestures, eye contact, recognising intentions of others

Question 19

How may use of language be impacted in a person with autism?

Answer 19

Difficulty initiating and sustaining conversation, restricted interests, lack of awareness of reciprocal nature of conversation

Question 20

How may social interaction be affected by autism spectrum disorder?

Answer 20

Joint attention and referencing
Turn-taking, social rules, other points of view/feelings
Empathy and unable to share pleasure
Not motivated by need for social approval
Relationships

Question 21

What areas of flexibility of thought/imagination are impacted by autism?

Answer 21

Theory of mind, concrete and literal, concept of time, routines, changes in environment, ritualistic behaviour

Question 22

What are some triggers of the sensory issues of a person with autism?

Answer 22

Fussy eater/medications, textures of clothing, sleep, toilet training, hair washing/cutting, nail cutting, noise

Question 23

What should be included in the history of a child with a suspected developmental delay?

Answer 23

Presenting complaint, past medical history, perinatal and birth details, family and social history, development, play and behaviour, school/nursery performance

Question 24

How should children with suspected developmental delay be examined?

Answer 24

Observation, look for dysmorphism, measure head circumference, systemic examination, CNS (including neurocutaneous), vison and hearing

Question 25

What investigations can be done for developmental delay?

Answer 25

Chromosomes, FRAX, oligoarray CGH, neonatal PKU, thyroid studies, CK
If indicated = MRI brain, ECG, metabolic studies etc

Question 26

How should developmental assessment be approached?

Answer 26

Using the multidisciplinary team

Question 27

What are some diagnostic tools that can be use to assess development?

Answer 27

Griffiths = 0-8 years
Bayleys = 0-3 years
Schedule of growing skills = 0-5 years
ADOS = for autism spectrum disorder

Question 28

What interventions can be done for developmental delays?

Answer 28

Intervention should be early
Therapy = physio, SLT, OT
Family support and educational placement
Referral to other agencies