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.