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1.
Am J Med Genet B Neuropsychiatr Genet ; 180(8): 566-575, 2019 12.
Artículo en Inglés | MEDLINE | ID: mdl-31077569

RESUMEN

Recent advances in genetic research have led to an increased focus on genetic causes of intellectual disability (ID) and have raised new questions about how and when clinicians offer genetic testing and the nature of communication around this decision with patients and carers. Determining the right approach to such discussions is complicated by complexities of communication, consent, and capacity and ethical concerns about genetic testing in this population. In this article, we briefly discuss the recent advances in genetic research relevant to people with intellectual disability, highlighting the challenges that might arise when undertaking genetic testing in this population. We then describe how we have used a Quality Improvement methodology to develop a clinical pathway for routine genetic testing for adults with intellectual disability in a clinical setting in East London.


Asunto(s)
Pruebas Genéticas/ética , Accesibilidad a los Servicios de Salud/tendencias , Discapacidad Intelectual/psicología , Adulto , Comunicación , Toma de Decisiones , Femenino , Pruebas Genéticas/métodos , Pruebas Genéticas/tendencias , Accesibilidad a los Servicios de Salud/ética , Humanos , Londres/epidemiología , Masculino , Mejoramiento de la Calidad
2.
Front Neurol ; 14: 1283572, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37905190

RESUMEN

Tourette syndrome (TS) and obsessive-compulsive disorder (OCD) are two neuropsychiatric disorders that frequently co-occur. Previous evidence suggests a shared genetic diathesis underlying the comorbidity of TS and OCD. This review aims to comprehensively summarize the current literature on the genetic factors linked with TS and its comorbidities, with a focus on OCD. Family studies, linkage analysis, cytogenetic studies, and genome-wide association studies (GWAS) have played a pivotal role in identifying common and rare genetic variants connected with TS and OCD. Although the genetic framework of TS and OCD is complex and multifactorial, several susceptibility loci and candidate genes have been identified that might play a crucial role in the pathogenesis of both disorders. Additionally, post-infectious environmental elements have also been proposed to contribute to the development of TS-OCD, although the dynamics between genetic and environmental factors is not yet fully understood. International collaborations and studies with well-defined phenotypes will be crucial in the future to further elucidate the genetic basis of TS and OCD and to develop targeted therapeutic strategies for individuals suffering from these debilitating conditions.

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