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Screening of the duplication 24 pb of ARX gene in Moroccan patients with X-linked Intellectual Disability.筛查 24 pb 的 ARX 基因在摩洛哥患者与 X 连锁的智力残疾。
BMC Res Notes. 2021 Mar 23;14(1):110. doi: 10.1186/s13104-021-05526-7.

本文引用的文献

1
Chromosomal Abnormalities in Patients with Intellectual Disability: A 21-Year Retrospective Study.智力残疾患者的染色体异常:一项21年的回顾性研究。
Hum Hered. 2018;83(5):274-282. doi: 10.1159/000499710. Epub 2019 May 7.
2
Intellectual disability and mental disorders in a US population representative sample of adolescents.美国青少年代表性人群中的智力残疾和精神障碍。
Psychol Med. 2019 Apr;49(6):952-961. doi: 10.1017/S0033291718001605. Epub 2018 Jul 12.
3
Consanguineous Marriage and the Psychopathology of Progeny: A Population-wide Data Linkage Study.血缘婚姻与后代精神病理学:一项全人群数据关联研究。
JAMA Psychiatry. 2018 May 1;75(5):438-446. doi: 10.1001/jamapsychiatry.2018.0133.
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Antiepileptic drugs in development pipeline: A recent update.处于研发阶段的抗癫痫药物:近期进展
eNeurologicalSci. 2016 Jun 17;4:42-51. doi: 10.1016/j.ensci.2016.06.003. eCollection 2016 Sep.
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New observations on maternal age effect on germline de novo mutations.关于母亲年龄对生殖系新生突变影响的新观察结果。
Nat Commun. 2016 Jan 19;7:10486. doi: 10.1038/ncomms10486.
6
High prevalence of isolated sperm DNA damage in infertile men with advanced paternal age.高龄男性不育患者精子 DNA 损伤的高发生率。
J Assist Reprod Genet. 2013 Jun;30(6):843-8. doi: 10.1007/s10815-013-0015-0. Epub 2013 Jun 1.
7
Epidemiologic and clinical characteristics of 458 Tunisian patients with intellectual deficiency and a reconsidered diagnostic strategy.458名突尼斯智力缺陷患者的流行病学和临床特征及重新考虑的诊断策略
Eur J Med Genet. 2013 Jan;56(1):13-9. doi: 10.1016/j.ejmg.2012.10.012. Epub 2012 Nov 8.
8
Rate of de novo mutations and the importance of father's age to disease risk.新突变率和父亲年龄对疾病风险的重要性。
Nature. 2012 Aug 23;488(7412):471-5. doi: 10.1038/nature11396.
9
Mutational screening of ARX gene in Iranian families with X-linked intellectual disability.对伊朗 X 连锁智力残疾家系 ARX 基因的突变筛查。
Arch Iran Med. 2012 Jun;15(6):361-5.
10
Aetiology of intellectual disability in paediatric outpatients in Northern India.印度北部儿科门诊患者智力障碍的病因。
Dev Med Child Neurol. 2011 Feb;53(2):167-72. doi: 10.1111/j.1469-8749.2010.03823.x. Epub 2010 Nov 18.

摩洛哥的智力残疾:一项试点研究。

Intellectual Disability in Morocco: A Pilot Study.

作者信息

Benmakhlouf Yousra, Zian Zeineb, Ben Makhlouf Kaoutar, Ghailani Nourouti Naima, Barakat Amina, Bennani Mechita Mohcine

机构信息

Drs. Benmakhlouf, Zian, Ghailani Nourouti, Barakat, and Bennani Mechita are with Biomedical Genomics and Oncogenetics Research Laboratory, Faculty of Sciences and Techniques of Tangier, at Abdelmalek Essaadi University, Morocco, in Tétouan, Morocco.

Dr. Ben Makhlouf is with Boudra Fertility Center for Assisted Reproduction in Fez, Morocco.

出版信息

Innov Clin Neurosci. 2020 Oct 1;17(10-12):9-13. eCollection 2020 Oct-Dec.

PMID:33898095
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7819583/
Abstract

Intellectual disability (ID) is a heterogeneous group of disorders characterized by a congenital limitation in intellectual functioning and adaptive behaviour. Our present work aimed to describe the demographic and clinical characteristics in a series of Moroccan individuals with ID living in Fez city and its regions. It was a prospective and descriptive exploratory monocentric study carried out between October 2014 and July 2019. We selected 186 patients diagnosed with ID at three different centers in Fez city. The data were processed and analyzed using the IBM SPSS version 24. Our data revealed a high frequency of male patients with ID (67.2% in male patients vs. 32.8% in female patients). The male-to-female ratio was 2.04. The mean age of our patients was 15.52 ±6.59 years (mean±SD), ranging between 2 and 36 years. The mean age of fathers and mothers at the birth of their child with ID was 36 and 28 years, respectively. Several abnormal behaviors were observed: 23.1 percent delayed language learning, 17.7 percent anxiety, 12.9 percent aggressiveness, 19.18 percent concentration problems, and 5.4 percent hyperactivity. Epileptic seizures were the most common mental health disorder (21.72%) observed in our patients. Approximately 25 percent of patients with epilepsy took antiepileptic and/or neuroleptics to prevent the occurrence of seizures. A significant correlation was observed between ID associated to genetic causes and the increase of consanguinity rate.

摘要

智力残疾(ID)是一组异质性疾病,其特征是智力功能和适应性行为存在先天性限制。我们目前的工作旨在描述居住在非斯市及其周边地区的一系列摩洛哥智力残疾个体的人口统计学和临床特征。这是一项前瞻性、描述性探索性单中心研究,于2014年10月至2019年7月进行。我们在非斯市的三个不同中心选择了186名被诊断为智力残疾的患者。数据使用IBM SPSS 24版进行处理和分析。我们的数据显示,智力残疾男性患者的比例很高(男性患者占67.2%,女性患者占32.8%)。男女比例为2.04。我们患者的平均年龄为15.52±6.59岁(平均值±标准差),年龄范围在2岁至36岁之间。孩子患有智力残疾的父亲和母亲在孩子出生时的平均年龄分别为36岁和28岁。观察到几种异常行为:23.1%的患者语言学习延迟,17.7%的患者焦虑,12.9%的患者有攻击性,19.18%的患者注意力不集中,5.4%的患者多动。癫痫发作是我们患者中最常见的心理健康障碍(21.72%)。约25%的癫痫患者服用抗癫痫药和/或抗精神病药以预防癫痫发作。观察到与遗传原因相关的智力残疾与近亲结婚率的增加之间存在显著相关性。