Psych MEQs / SAQs · intellectual disability psychiatry
Intellectual disability — assessment, classification and aetiological workup (MEQ)
FRANZCP-style MEQ on ID diagnostic triad, adaptive domains, genetics workup, differentials and services including CIPOLD mortality awareness.
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(i) Criteria and severity. DSM-5-TR intellectual developmental disorder requires (A) deficits in intellectual functions confirmed clinically and with standardised testing when valid; (B) deficits in adaptive functioning limiting independence and social responsibility across environments; (C) onset during the developmental period. Severity (mild/moderate/severe/profound) is based primarily on adaptive functioning and support needs, not IQ band alone. This child has IQ in the mild range and clear adaptive deficits with developmental onset — consistent with mild ID if adaptive assessment confirms threshold.[1][4]
(ii) Adaptive domains and measurement. Conceptual (language, academics, memory, self-direction), social (interpersonal skills, social judgment, naivety/gullibility), practical (self-care, safety, money, community use). Measure with standardised adaptive behaviour scales (e.g. Vineland, ABAS) plus multi-informant history across home and school — not unstructured impression alone.[3][4]
(iii) Investigations. After clinical diagnosis and ensuring vision/hearing are addressed: physical/neurological examination; chromosomal microarray as first-tier genetic test; fragile X testing per evaluation pathways; escalate to exome/genome sequencing when first-tier uninformative or phenotype suggests high monogenic yield (landmark severe-ID exome evidence). Metabolic tests and MRI/EEG only for red flags (regression, consanguinity/metabolic clues, seizures, focal neurology) — not shotgun imaging in uncomplicated mild ID.[1][2][5]
(iv) Differentials. Specific learning disorder: academic domain deficit with broader adaptive skills relatively preserved. ASD: requires social-communication pattern plus RRBs beyond developmental expectation — dual diagnosis allowed if both met. GDD: under-5 working label when IQ testing not yet reliable — not preferred at age 9 with valid testing. Borderline intellectual functioning: scores above ID intellectual threshold and/or adaptive criteria not met.[1][4]
(v) Supports and mortality. No drug treats core ID. Deliver education plan, speech/OT as needed, disability funding supports (e.g. NDIS in Australia), carer support, and mental health screening without diagnostic overshadowing. CIPOLD (Heslop) showed elevated premature mortality with many deaths potentially avoidable — active health surveillance is mandatory systems practice.[1][6]
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- [1]Moeschler JB, Shevell M; Committee on Genetics Comprehensive evaluation of the child with intellectual disability or global developmental delays Pediatrics, 2014.PMID 25157020
- [2]Miller DT, Adam MP, Aradhya S, et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies Am J Hum Genet, 2010.PMID 20466091
- [3]Tassé MJ, Schalock RL, Balboni G, et al. The construct of adaptive behavior: its conceptualization, measurement, and use in the field of intellectual disability Am J Intellect Dev Disabil, 2012.PMID 22809075
- [4]Tassé MJ, Luckasson R, Schalock RL The Relation Between Intellectual Functioning and Adaptive Behavior in the Diagnosis of Intellectual Disability Intellect Dev Disabil, 2016.PMID 27893317
- [5]de Ligt J, Willemsen MH, van Bon BW, et al. Diagnostic exome sequencing in persons with severe intellectual disability N Engl J Med, 2012.PMID 23033978
- [6]Heslop P, Blair PS, Fleming P, Hoghton M, Marriott A, Russ L The Confidential Inquiry into premature deaths of people with intellectual disabilities in the UK: a population-based study Lancet, 2014.PMID 24332307