ArticleQatar medical journal2022
Genetic etiology of adult intellectual disability (ID) of unknown cause in Qatar: a retrospective study.
Article in Qatar medical journal, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
1 citing paper in PubMed.
- A Comparison of Developmental Profiles of Preschool Children with Down Syndrome, Global Developmental Delay, and Developmental Language Disorder.Healthcare (Basel, Switzerland) · 2025Article
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Authors and funding
7 authors.
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Abstract
backgroundIntellectual disability (ID) is a common condition that consists of a heterogeneous group of clinical conditions with different etiologies, including genetic conditions. Identifying those with a genetic cause results in better clinical management.
aimTo identify the genetic etiology of ID in adult patients with unknown etiology presenting to a specialist learning disability service in Qatar.
methodsRetrospective review of chart notes of patients referred for ID service from January 1, 2015 to January 1, 2020.
resultsOf the 228 patients, 82 had a known cause of ID and did not require genetic testing, 22 had an unknown cause and underwent genetic testing, and 124 had an unknown cause and did not undergo genetic testing. Of the 82 patients with a known cause of ID, about one-half had an autistic spectrum disorder (ASD) and 18 patients had a genetic disorder. Of the 22 patients who underwent genetic testing, 2 were positive for the Fragile-X mental retardation 1 gene, 3 underwent chromosomal microarray, and 7 underwent whole-exome sequencing. Seven abnormal genes were identified.
conclusionsIdentifying the underlying genetic etiology of patients with ID has major implications for diagnostic and therapeutic approaches. Additionally, it guides a prediction of the natural history of the disease and makes it possible to test at-risk family members.
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