Rustom Hesham, Hassan Eltorki Yassin, Adil Shah Khoodoruth Mohamed, Abdallah Oraib, Al-Khuzaei Noriya, Iqbal Noriya, Alabdulla Noriya
Psychiatry Hospital, Hamad Medical Corporation, Qatar E-mail:
Qatar Med J. 2022 Jun 14;2022(1):26. doi: 10.5339/qmj.2022.26. eCollection 2022.
Intellectual 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.
To identify the genetic etiology of ID in adult patients with unknown etiology presenting to a specialist learning disability service in Qatar.
Retrospective review of chart notes of patients referred for ID service from January 1, 2015 to January 1, 2020.
Of 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.
Identifying 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.
智力残疾（ID）是一种常见病症，由病因各异的一组临床情况组成，包括遗传性疾病。确定那些由遗传原因导致的病例有助于更好地进行临床管理。
确定卡塔尔一家专门的学习障碍服务机构中病因不明的成年智力残疾患者的遗传病因。
回顾性分析2015年1月1日至2020年1月1日转诊至智力残疾服务机构的患者病历。
在228例患者中，82例有已知的智力残疾病因，无需进行基因检测；22例病因不明且接受了基因检测；124例病因不明且未接受基因检测。在82例有已知智力残疾病因的患者中，约一半患有自闭症谱系障碍（ASD），18例患有遗传性疾病。在接受基因检测的22例患者中，2例脆性X智力低下1基因检测呈阳性，3例接受了染色体微阵列检测，7例接受了全外显子测序。共鉴定出7个异常基因。
确定智力残疾患者潜在的遗传病因对诊断和治疗方法具有重要意义。此外，它有助于预测疾病的自然史，并能够对有患病风险的家庭成员进行检测。
