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1.
Innov Clin Neurosci ; 21(7-9): 10-14, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39329031

RESUMEN

Objective: Intellectual disability (ID) is considered one of the most common human disorders characterized by significant deficits in cognition and functional and adaptive skills. The aims of this study were to describe the demographic and clinical features of a group of Moroccan individuals with ID living in the Tangier-Tetouan region. Design: This was a retro-prospective and descriptive exploratory monocentric study realized between November 2020 and August 2023. A total of 109 patients with ID were included. They were selected at four mental health centers in the Tangier-Tetouan region. Our data were treated and analyzed using the IBM SPSS version 26. Results: A male predominance of patients with ID was observed in our series (54.4% male vs. 42.6% female). The male-to-female ratio was 1.34. The mean±standard deviation (SD) age of our patients was 11.75±4.87 years, ranging from 1 to 35 years. The mean ages of mothers and fathers at the births of their children with ID were 28.36 and 35.6 years, respectively. Many co-occurring medical conditions were noted in our data (speech delay: 20.5%, concentration problems: 15.1%, hyperactivity: 11.1%, ambulation difficulties: 8.8%, aggressiveness: 8%, vision problems: 6.3%, epileptic seizures: 4%). The consanguinity rate was 26.9 percent. Conclusion: ID associated with genetic causes was significantly correlated with the consanguinity rate in the Moroccan population.

2.
BMC Res Notes ; 14(1): 110, 2021 Mar 23.
Artículo en Inglés | MEDLINE | ID: mdl-33757564

RESUMEN

OBJECTIVE: Intellectual Disability (ID) represents a neuropsychiatric disorder, which its etiopathogenesis remains insufficiently understood. Mutations in the Aristaless Related Homeobox gene (ARX) have been identified to cause syndromic and nonsyndromic (NS-ID). The most recurrent mutation of this gene is a duplication of 24pb, c.428-451dup. Epidemiological and genetic studies about ID in the Moroccan population remain very scarce, and none study is carried out on the ARX gene. This work aimed to study c.428-451dup (24 bp) mutation in the exon 2 of the ARX gene in 118 males' Moroccan patients with milder NS-ID to evaluate if the gene screening is a good tool for identifying NS-ID. RESULTS: Our mutational analysis did not show any dup(24pb) in our patients. This is because based on findings from previous studies that found ARX mutations in 70% of families with NS-ID, and in most cases, 1.5-6.1% of individuals with NS-ID have this duplication. Since 1/118 = 0.0084 (0.84%) is not much different from 1.5%, then it is reasonable that this could a sample size artifact. A complete screening of the entire ARX gene, including the five exons, should be fulfilled. Further investigations are required to confirm these results.


Asunto(s)
Genes Homeobox , Discapacidad Intelectual , Pruebas Genéticas , Proteínas de Homeodominio/genética , Humanos , Discapacidad Intelectual/genética , Masculino , Mutación , Factores de Transcripción/genética
3.
Artículo en Inglés | MEDLINE | ID: mdl-32600239

RESUMEN

Intellectual disability (ID), previously called mental retardation, is the most common neurodevelopmental disorder characterized by life-long intellectual and adaptive functioning impairments that have an impact on individuals, families, and society. Its prevalence is estimated to 3% of the general population and its etiology is still insufficiently understood. Besides the involvement of genetic and environmental factors, immunological dysfunctions have been also suggested to contribute to the pathophysiology of ID. Over the years, immune biomarkers related to ID have gained significant attention and researchers have begun to look at possible cytokine profiles in individuals suffered from this disorder. In fact, in addition to playing crucial physiological roles in the majority of normal neurodevelopmental processes, cytokines exert an important role in neuroinflammation under pathological conditions, and interactions between the immune system and central nervous system have long been under investigation. Cytokine levels imbalance has been reported associated with some behavioral characteristics and the onset of some syndromic forms of ID. In this review, we will focus on immunological biomarkers, especially the cytokine profiles that have been identified in people with ID. Thus, data reported and discussed in the present paper may provide additional information to start further studies and to plan strategies for early identification and managing of ID.


Asunto(s)
Citocinas/inmunología , Citocinas/metabolismo , Mediadores de Inflamación/inmunología , Mediadores de Inflamación/metabolismo , Discapacidad Intelectual/inmunología , Discapacidad Intelectual/metabolismo , Animales , Biomarcadores/metabolismo , Barrera Hematoencefálica/inmunología , Barrera Hematoencefálica/metabolismo , Encéfalo/inmunología , Encéfalo/metabolismo , Humanos , Discapacidad Intelectual/diagnóstico
4.
Innov Clin Neurosci ; 17(10-12): 9-13, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-33898095

RESUMEN

Objective: 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. Design: 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. Results: 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. Conclusion: A significant correlation was observed between ID associated to genetic causes and the increase of consanguinity rate.

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