Toddler/Child Presenting with a Developmental Query

Question 1

List the patterns of abnormal development

Answer 1

1. Slow but steady
2. Plateau effect
3. Showing regression

Question 2

List the levels of severity of abnormal development

Answer 2

1. Mild
2. Moderate
3. Severe
4. Profound

Question 3

Define global developmental delay (GDD)

Answer 3

Delay in acquisition of all skill fields
Usually becomes apparent in first two years of life
Likely associated with cognitive difficulties

Question 4

Define isolated developmental delay

Answer 4

When one field of development or skill area is more delayed than others
It may also be developing in a disordered

Question 5

List the prenatal causes of abnormal development

Answer 5

1. Genetic:
   - Chromosome/DNA disorders (Down’s, Fragile X etc.)
   - Cerebral dysgenesis (microcephaly, hydrocephalus, etc)
2. Cerebrovascular:
   - Stroke
3. Metabolic:
   - Hypothyroidism
   - PKU
4. Teratogenic:
   - Alcohol and drug abuse
5. Congenital infection:
   - Rubella
   - CMV
   - Toxoplasmosis
   - HIV
6. Neurocutaneous syndromes:
   - Tuberous sclerosis
   - Neurofibromatosis
   - Sturge-Weber
   - Ito syndrome

Question 6

List the perinatal causes of abnormal developement

Answer 6

1. Extreme prematurity (IVH/periventricular leukomalacia)
2. Birth asphyxia (HIE)
3. Metabolic (Symptomatic hypoglycaemia, hyperbilirubinaemia)

Question 7

List the postnatal causes of abnormal development

Answer 7

1. Infection (cranial)
2. Anoxia (suffocation, near drowning, seizures)
3. Trauma (accidental or NAI)
4. Metabolic (hypoglycaemia, inborn errors of metabolism)
5. Stroke
6. Nutritional deficiency

Question 8

What investigations should be considered in a child presenting with query developmental delay?

Answer 8

1. Karyotype
2. Fragile X analysis
3. DNA fluorescence in situ hybridisation analysis
4. Metabolic screen
5. Maternal amino acids
6. Congenital infection screen
7. Imaging
8. EEG
9. Nerve conduction studies, electromyogram, visual evoked potentials, electroretinogram
10. Nerve, skin and muscle biopsy
11. Hearing
12. Vision
13. Clinical genetics
14. Cognitive and behavioural assessment
15. Child psychiatry
16. Therapy assessment
17. Dietician
18. Nursery/school reports