Developmental delay

Question 1

How can the pattern of abnormal development (global or specific) be categorised as?

Answer 1

Slow but steady
Plauteau effect
Showing repression

Question 2

What is global developmental delay?

Answer 2

Delay in acquisition of all skills field (gross motor, fine motor, language and cognition, hearing and speech, social/emotional and behaviour). It usually becomes apparent in the first 2 years of life.

Question 3

What cryogenic investigations should occur for global developmental delay?

Answer 3

Chromosome karyotype
Fragile X analysis
DNA fluorescence in situ hybridization analysis for common deletions
(chromosome 7, 15, 22); telomere screening; whole-exome sequencing

Question 4

What metabolic investigations should occur for global developmental delay?

Answer 4

TFTs, LFTs, U&Es, plasma amino acids (phenylalanine, arginine,
tryptophan), blood film, bone chemistry
Creatine kinase, blood lactate, very long-chain fatty acids, ammonia,
blood gases, urine mucopolysaccharide and oligosaccharide screen, urine
reducing substances, lead levels, urate, ferritin, vit B6 and B12
Maternal amino acids for raised phenylalanine

Question 5

Which congenital investigation should occur for global developmental delay?

Answer 5

TORCH screen

Question 6

What imaging should occur for global developmental delay?

Answer 6

Cranial USS in newborn
CT & MRI brain scans
Skeletal survey and bone age

Question 7

What other investigations should be carried out for global developmental delay?

Answer 7

Neurophysiology:
EEG (for seizures and diagnosis of specific neurological disorders and
syndromes)
Histopathology:
Nerve, skin and muscle biopsy
Other: hearing, vision, genetics, cognitive and behavioural assessment, physio/OT speech and language, psychiatry, dietician, nursery/school report

Question 8

What are is motor skills delay?

Answer 8

May present as delay in motor skills acquisition (e.g. head control, rolling, sitting, standing) or as problems with balance, abnormal gait, asymmetrical hand use, involuntary movement or loss of motor skills (rarely).
Concerns usually present between 3 months – 2 years of age when the acquisition of motor skills occurs rapidly:

Question 9

What are the features of motor skills delay?

Answer 9

Unable to lift head or push up on arms by the age of 3 months
Floppy, stiff arms, stiff legs, unable to lift head by 6 months
Unable to sit straight, poor head control, not taking weight on legs, poor use of
arms to play by 9 months
Not interested in weight bearing, can’t crawl, difficulty in pulling to stand by 13
months
Stiff and bent arms, hand dominance, excessive tiptoe gait by 18 months
(hand dominance in first year of life may suggest underlying hemiplegia)

Question 10

What are the causes of late walking (>18 months)?

Answer 10

Central motor deficit (e.g. cerebral palsy)
Congenital myopathy/ primary muscle disease v Spinal cord lesions (e.g. spina bifida)
Global developmental delay

Question 11

What are the investigations for motor skills delay?

Answer 11

Assessment by neurodevelopmental paediatrician and physiotherapist, input from OT
Neurological investigation, vision and hearing (children with systemic disease affecting their motor skills often altered levels of interaction with their environment and general arousal)
Head circumference, weight, length- may detect microcephaly, macrocephaly and growth impairments

Question 12

What are the investigations for common neuromotor abnormalities?

Answer 12

Hypertonia- brain MRI
Hypotonia- TFT and CK levels (rise indicates DMD)
Drooling or poor weight gain- facial motor weakness- congenital myopathies or lower motor neurone disorders
Resp (tachypnoea, ineffective airway clearance)- neuromotor conditions
Organomegaly- abdo exam (glycogen storage disease)

Question 13

Which features may indicate a chromosome abnormality?

Answer 13

Children with neuromotor abnormalities, who also have failure to thrive, growth abnormalities, dysmorphic facial features or other visceral anomalies

Question 14

What is speech and language delay?

Answer 14

Child may have a deficit in either receptive or expressive speech and language, or both. This deficit may be a delay or a disorder

Question 15

What may a speech and language delay be due to?

Answer 15

Hearing loss
Global developmental delay
Difficulty in speech production from an anatomical deficit (e.g. cleft palate)
Environmental deprivation and lack of opportunity for social interaction
Normal variant for this family

Question 16

What do speech and language disorders include disorders of?

Answer 16

Language comprehension
Language expression (inability or difficulty in producing speech whilst knowing what
is needed to be said)
Speech production, such as stammering, dysarthria (speech muscle weakness) or
verbal dyspraxia (difficulty co-ordinating speech muscles)
Pragmatics, construction of sentences, semantics, grammar
Social/communication skills (ASD)

Question 17

What are the investigations for speech and language disorders?

Answer 17

Hearing assessment by speech and language therapist with involvement of a neurodevelopmental paediatrician and paediatric audiological physician