Intellectual Disability
Also written as ID.
A 2-year-old child living with good quality nutritional support is small for its age and exhibits profound intellectual disability.
What our notes say
- A 2-year-old child living with good quality nutritional support is small for its age and exhibits profound intellectual disability. (Chemical pathology and Endocrine pathology — Past Paper Questions & Answers)
- Epidemiology: It is the most common autosomal chromosomal disorder and the most common genetic cause of intellectual disability; incidence rises sharply with increasing maternal age. (Cytopathology vs Histopathology CAT: Definitions & Lab Basics)
- Neurodevelopmental: intellectual disability, autism spectrum disorder, ADHD. (Classification of Mental Disorders)
- Disorientation, impaired attention, memory loss, poor executive function, impaired abstraction, intellectual disability. (Introduction to Psychopathology)
- Learning: intellectual disability, with delayed milestones. (Paediatrics Year 4 MBChB end of semester CAT: triage, newborn care, growth and d)
- Neurodevelopmental Disorders I: Autism Spectrum Disorder and Intellectual Disability — Year 4 Psychiatry (Neurodevelopmental Disorders I: Autism Spectrum Disorder and Intellectual Disabi)
Study material on Intellectual Disability
- Neurodevelopmental Disorders I: Autism Spectrum Disorder and Intellectual Disability
- Genetic Disorders Pathology Crash Course: Exam Revision Notes
- Chemical Pathology Practice Examination
- Clinical Genetics: Master Mendelian Disorders & Molecular Basis
- VASCULAR PATHOLOGY — Must-Know Comprehensive Notes
- VASCULAR PATHOLOGY — Must-Know Notes
Practice questions on Intellectual Disability
A port wine stain in the distribution of the trigeminal nerve is found in a child with seizures, intellectual disability, and skull "tram-track" calcifications. What underlying mutation causes this syndrome?
- Germline VHL mutation causing haemangioblastomas and AV malformations
- TSC1/TSC2 mutation causing tuberous sclerosis complex with cortical tubers
- NF1 mutation causing neurofibromas and café-au-lait macules
- Somatic GNAQ missense mutation in the Gα subunit causing constitutive signalling
Answer: D. Sturge-Weber syndrome (port wine stain + leptomeningeal angiomas + seizures + intellectual disability) is caused by a somatic GNAQ missense mutation occurring early in development — not inherited. ---