Paeds Vivas · growth-development-and-behaviour
Intellectual developmental disorder — branching viva
Branching viva on IDD criteria, aetiological evaluation, anti-overshadowing and transition.
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Target exams
Stem
The examiner starts with definitions, then adds a toddler with multi-domain delay, a school-age child with “learning difficulty,” an acute ED presentation, and an adolescent without transition planning. [1] [5]
Branch 1 — Definition and severity
Examiner: What is intellectual developmental disorder? [5]
Strong answer: A developmental-period condition with significant limitations in intellectual functioning and in adaptive functioning across conceptual, social and practical domains. Severity is based on adaptive support needs, not an IQ number alone. [5]
Examiner: Why not IQ alone? [5]
Strong answer: Intellectual scores and adaptive behaviour are related but not the same construct. Real-world disability requires adaptive impairment. [5]
Branch 2 — Toddler GDD pathway
Examiner: A 2.5-year-old has delayed language, delayed motor skills and limited self-care. No regression. What do you call this and what do you do? [1]
Strong answer: Working label is global developmental delay. I open early intervention now, ensure hearing and vision pathways, take pregnancy/neonatal/family history, examine for dysmorphology and neurology, and start aetiology testing with chromosomal microarray as first-tier genetics, plus fragile X when indicated. I do not wait for school age to help. [1] [2]
Examiner: When would you think metabolic disease? [10]
Strong answer: Regression, episodic decompensation, consanguinity, specific exam or biochemical clues — then prioritise treatable inherited metabolic work-up rather than assuming a static label. [10]
Branch 3 — School-age differential
Examiner: How do you separate IDD from specific learning disorder? [5]
Strong answer: Specific learning disorder is academic skill impairment with intellectual functioning not in the IDD range and without global adaptive disability. IDD requires both intellectual and broad adaptive deficits. [5]
Branch 4 — Acute conversion / overshadowing
Examiner: A child with known moderate IDD presents with new aggression and reduced walking. Staff say “that is his baseline.” Your response? [18]
Strong answer: Baseline explains the past, not a new change. I search for pain, infection, seizure, constipation, dental disease, trauma or abuse. Diagnostic overshadowing is the error to avoid. [18]
Branch 5 — Longitudinal care and transition
Examiner: What does medical-home care look like after diagnosis? [16]
Strong answer: Care coordination across therapy, education and specialty care; preventive surveillance; comorbidity management; family counselling; closed loops on genetics and referrals. [16]
Examiner: When does transition start? [17]
Strong answer: Preparation begins in mid-adolescence inside the medical home — adult providers, emergency plans, decision supports, sexual health and vocational planning — not on the 18th birthday. [17]
Branch 6 — Genomics update
Examiner: After non-diagnostic microarray, what genomic step may be considered? [3]
Strong answer: Exome or genome sequencing is supported by ACMG guidance for pediatric congenital anomalies or intellectual disability as a first- or second-tier test within guideline scope, with counselling about yield and uncertainty. Local access varies. [3]
References
- [1]Moeschler JB Comprehensive evaluation of the child with intellectual disability or global developmental delays. Pediatrics, 2014.PMID 25157020
- [2]Miller DT Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. American journal of human genetics, 2010.PMID 20466091
- [3]Manickam K Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG). Genetics in medicine, 2021.PMID 34211152
- [5]Tassé MJ The Relation Between Intellectual Functioning and Adaptive Behavior in the Diagnosis of Intellectual Disability. Intellectual and developmental disabilities, 2016.PMID 27893317
- [10]Hoytema van Konijnenburg EMM Treatable inherited metabolic disorders causing intellectual disability: 2021 review and digital app. Orphanet journal of rare diseases, 2021.PMID 33845862
- [16]Council on Children with Disabilities and Medical Home Implementation Project Advisory Committee Patient- and family-centered care coordination: a framework for integrating care for children and youth across multiple systems. Pediatrics, 2014.PMID 24777209
- [17]White PH Supporting the Health Care Transition From Adolescence to Adulthood in the Medical Home. Pediatrics, 2018.PMID 30348754
- [18]Kuo DZ Recognition and Management of Medical Complexity. Pediatrics, 2016.PMID 27940731