Genetics
Below are resources recommended by the AADMD.
“Genetic Testing for Developmental and Intellectual Disabilities” report from the Agency for Healthcare Research Quality (AHRQ).
The Treatable-ID App was created in 2012 as digital tool to improve early recognition and intervention for treatable inherited metabolic disorders (IMDs) presenting with intellectual disability (‘Treatable IDs’).
Articles
The opinions and experiences of people with intellectual disability regarding genetic testing and genetic medicine: A systematic review, Genetics in Medicine, Volume 24, Issue 3, 2022, Pages 535-548, ISSN 1098-3600, Iva Strnadová, Suzanne M. Nevin, Jackie Leach Scully, Elizabeth E. Palmer,
Adlington K, Smith J, Crabtree J, Win S, Rennie J, Khodatars K, Rosser E, Hall I. Improving access to genetic testing for adults with intellectual disability: A literature review and lessons from a quality improvement project in East London. Am J Med Genet B Neuropsychiatr Genet. 2019 Dec;180(8):566-575. doi: 10.1002/ajmg.b.32732. Epub 2019 May 11. PMID: 31077569.
Wallace RA. Genetic testing of aetiology of intellectual disability in a dedicated physical healthcare outpatient clinic for adults with intellectual disability. Intern Med J. 2016 Feb;46(2):177-85. doi: 10.1111/imj.12946. PMID: 26573992.
Zacher P, Mayer T, Brandhoff F, Bartolomaeus T, Le Duc D, Finzel M, Heinze A, Horn S, Klöckner C, Körber G, Hentschel J, Kalita M, Krey I, Nastainczyk-Wulf M, Platzer K, Rebstock J, Popp B, Stiller M, Teichmann AC, Jamra RA, Lemke JR. The genetic landscape of intellectual disability and epilepsy in adults and the elderly: a systematic genetic work-up of 150 individuals. Genet Med. 2021 Aug;23(8):1492-1497. doi: 10.1038/s41436-021-01153-6. Epub 2021 Apr 28. PMID: 33911214; PMCID: PMC8354852.
Frueh JS, Press DZ, Sanders JS. Diagnosis and Workup of Intellectual Disability in Adults: Suggested Strategies for the Adult Neurologist. Neurol Clin Pract. 2021 Dec;11(6):534-540. doi: 10.1212/CPJ.0000000000001128. PMID: 34992961; PMCID: PMC8723954.
Howard EP, Martin L, Heckman GA, Morris JN. Does the Person-Centered Care Model Support the Needs of Long-Term Care Residents With Serious Mental Illness and Intellectual and Developmental Disabilities? Front Psychiatry. 2021 Nov 12;12:704764. doi: 10.3389/fpsyt.2021.704764. PMID: 34867509; PMCID: PMC8632811.