INVESTIGATION OF GLOBAL DEVELOPMENTAL DELAY IN CHILDREN

Global developmental delay is defined as significant delay in two or more developmental domains.
Investigations should be performed only after a thorough history and examination has been carried out.
These guidelines are not intended for isolated speech and language or motor problems, or for children with autism.
If a diagnosis is not apparent after history and examination , proceed as below guideline:

FIRST LINE

Chromosomes- Karyotyping and Fragile X :
Full Blood count, Ferritin, Urea , Electrolytes, Glucose, Calcium
Creatine Kinase
Lead
Thyroid function tests
Auditory screening
Ophthalmologic screening including retinal examination.

SECOND LINE

METABOLIC: Family History, Consanguinity, Regression, Organomegaly, coarse features
pH(or bicarbonate), Ammonia, Lactate, Pyruvate, Urine organic & amino acids, Blood amino acids

Also consider:
Acylcarnitines for fatty acid oxidation disorders; fasting hypoglycaemia, failure to thrive, hypotonia, cardiomyopathy
Urine glycosaminoglycans for Mucopolysaccharidoses; developmental regression, glue ear, coarse features, macrocephaly
White cell enzymes for Lysosomal storage diseases; hepatomegaly, coarse facial features and or regression
Biotinidase

GENETICS: Dysmorphism, abnormal growth, Family History, Referral to Geneticist warranted

FMR1 – For Fragile X
MECP2 – For Retts syndrome.
FISH – For Prader Willi or Angelman’s syndrome or William’s or 22q11 Deletion

NEUROIMAGING: Abnormal head size, Seizures, Focal Neurology- MRI

If Microcephaly also consider:
Craniosynostosis on neuroimaging like SXR
Toxoplasma, Rubella, CMV screen.
Urine organic and aminoacids, Blood aminoacids and lactate
Consider chromosomal breakage studies and MCPH gene studies after D/W Geneticist.

EEG: For seizures, speech regression and Neuro-degenerative disorders.
Also consider 24 hr EEG

Draft 14.04.2008:Dr.J.Ganapathi SPR/ Dr CKukendra Consultant: Child development Centre, Hillingdon PCT: References:
Investigation of global developmental delay: L McDonald, Arch Dis Child 2006; 91:701–705
A guide to inv of dev delay in East Anglia: H.Pirth, A.Parker, M.Pinkney 2004:
American Academy of Neurology (AAN) guidelines for evaluation of the child with global dev delay. 2004

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