Mental retardation laboratory findings

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Chelsea Mae Nobleza, M.D.[2]

Overview

There are no specific diagnostic laboratory findings associated with intellectual disability however, laboratory tests like imaging, genetic testing,.

Laboratory Findings

It is challenging to completely examine children with intellectual disabilities due to inadequate communication skills. Some malformations may be missed even with a comprehensive examination. Some malformations such as atrial septal defect (ASD), single kidney, holoprosencephaly, visual and hearing impairment may be missed. Kishore MT, Udipi GA, Seshadri SP (January 2019). "Clinical Practice Guidelines for Assessment and Management of intellectual disability". Indian J Psychiatry. 61 (Suppl 2): 194–210. doi:10.4103/psychiatry.IndianJPsychiatry_507_18. PMC 6345136. PMID 30745696.

CT-Scan Findings

Cranial MRI is the imaging of choice in obtaining clues to the etiology of ID.

MRI Findings

Cranial MRI can show central nervous system malformations such as in tuberous sclerosis and neurofibromatosis, hydrocephalus, or schizencephaly. Kishore MT, Udipi GA, Seshadri SP (January 2019). "Clinical Practice Guidelines for Assessment and Management of intellectual disability". Indian J Psychiatry. 61 (Suppl 2): 194–210. doi:10.4103/psychiatry.IndianJPsychiatry_507_18. PMC 6345136. PMID 30745696.

Other Imaging Findings

There are no other imaging findings associated with intellectual disabilities.

Other Diagnostic Studies

• Chromosomal microarray analysis to look for copy number variants seen in Cri du chat syndrome or DiGeorge syndrome. "Intellectual Disability - Pediatrics - MSD Manual Professional Edition".
• Karyotyping to rule out Down Syndrome (trisomy 21) "Intellectual Disability - Pediatrics - MSD Manual Professional Edition".
• Direct DNA studies for ruling out Fragile X syndrome "Intellectual Disability - Pediatrics - MSD Manual Professional Edition".
• HIV test in high-risk infants "Intellectual Disability - Pediatrics - MSD Manual Professional Edition".
• Urine and serum amino acid and organic acid analysis "Intellectual Disability - Pediatrics - MSD Manual Professional Edition".
• Enzyme studies for storage diseases or peroxisomal disorders "Intellectual Disability - Pediatrics - MSD Manual Professional Edition".
• Muscle enzymes "Intellectual Disability - Pediatrics - MSD Manual Professional Edition".
• Electroencephalography (EEG) for patients with seizures "Intellectual Disability - Pediatrics - MSD Manual Professional Edition".
• TORCH screening "Intellectual Disability - Pediatrics - MSD Manual Professional Edition".

References

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