Mental retardation screening

Screening for patients with a suspected intellectual disability includes standardized intelligence assessments, adaptive functioning, genetic tests, and neuroimaging modalities.

Evaluation is dependent on age at onset, the severity of signs and symptoms, and the need to determine the underlying etiology of ID. A comprehensive screening includes clinical assessment paying particular attention to prenatal and perinatal history and family pedigree, psychological testing, karyotyping and metabolic screening, as well as neuroimaging tests. ^{[1] [2] [3]}

Intelligence Quotient (IQ) is the standard for estimating intellectual function. Standardized tools such as the Wechsler scale is administered to children 6-16 years old, while a brief assessment tool such as the Kauffman Brief Intelligence Test is an alternative if the Wechsler test is not possible. The mean value of IQ is 100, and 70-75 represents the upper limit of two standard deviations below the mean. Several factors may influence intelligence assessment, and this includes measurement error, Flynn effect, practice effects, outliers, and test selection, to name a few. ^{[3] [4]}

The Vineland Adaptive Behavior Scale evaluates communication, ability to perform activities of daily living (ADL), motor and socialization. Another assessment tool is AAIDD’s Diagnostic Adaptive Behavior Scale (DABS), administered to individuals 4-21 years old. This tool focuses on the “cut-off” area for ruling in a diagnosis of ID to determine eligibility for special education services, social security benefits, and home and community-based waiver services. ^{[5] [6]}

Newborn screening programs screen for inborn errors of metabolism with a yield of < 1%, and chromosomal analysis is required in children with unknown causes of ID with a yield of 12%. While genetic tests help discern the prognosis and treatment plan, it should be taken into account that these are expensive, and the findings may not reflect the phenotype of an individual. ^[7]

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