Williams syndrome (WS) is a neurodevelopmental disorder that results from a heterozygous microdeletion on chromosome 7q11.23. Most of the time, the affected region contains ~1.5 Mb of sequence encoding approximately 24 genes. Some 5–8% of patients with WS have a deletion exceeding 1.8 Mb, thereby affecting two additional genes, including GTF2IRD2. Currently, there is no consensus regarding the implications of GTF2IRD2 loss for the neuropsychological phenotype of WS patients. Objectives: The present study aimed to identify the role of GTF2IRD2 in the cognitive, behavioral, and adaptive profile of WS patients. Methods: Twelve patients diagnosed with WS participated, four with GTF2IRD2 deletion (atypical WS group), and eight without this deletion (typical WS group). The age range of both groups was 7–18 years old. Each patient’s 7q11.23 deletion scope was determined by chromosomal microarray analysis. Cognitive, behavioral, and adaptive abilities were assessed with a battery of neuropsychological tests. Results: Compared with the typical WS group, the atypical WS patients with GTF2IRD2 deletion had more impaired visuospatial abilities and more significant behavioral problems, mainly related to the construct of social cognition. Conclusions: These findings provide new evidence regarding the influence of the GTF2IRD2 gene on the severity of behavioral symptoms of WS related to social cognition and certain visuospatial abilities. (JINS, 2018, 24, 896–904)
En 2020, se ha advertido de la prevalencia de síntomas de trastorno por estrés post-traumático (TEPT) podría ser alta en personas que han presentado COVID-19. El objetivo de este trabajo fue explorar la prevalencia de síntomas de TEPT en población adulta tras haber iniciado el confinamiento. Participaron dos grupos; uno de 441 y otro de 182 adultos; ambos contestaron un cuestionario en línea elaborado por los autores para valorar la prevalencia de síntomas de TEPT a 2 y 10 meses del inicio del confinamiento. Los resultados revelaron un aumento de síntomas de TEPT en personas con antecedentes de COVID-19 a los 10 meses de haber iniciado el confinamiento. Estos resultados revelaron que con el paso del tiempo de la pandemia el aumento de síntomas de TEPT ha ido en aumento y que son mayores en personas que han presentado la enfermedad. La participación de los profesionales de la salud mental cobrará mayor importancia en los próximos meses y años para la prevención y tratamiento de este trastorno en población que ha presentado COVID-19.
Objective
The objective of this study is to propose a TeleNP model for remote assessment and offer practical recommendations for clinical practice with patients in Mexico and Latin America, based on a systematic literature review and clinical experience.
Method
A systematic review of studies from 2011 to 2021 in English and Spanish used TeleNP, teleneuropsychology, telepsychology, online, assessment, teleneuropsicología, and evaluación for the search; the databases examined included PubMed, BiDi UNAM, ScienceDirect, Google Scholar, and Wiley One Library; the Oxford Centre for Evidence-Based Medicine system was used to grade the levels of evidence. The experience of the last two years of students and faculty in the Master’s and Doctoral Programs in Psychology, Clinical Neuropsychology Residency Program, was also used as a basis for this guide.
Results
We propose a clinical model for TeleNP assessment in Mexico and Latin America based on the review of 31 articles and the practice of professors and students of clinical neuropsychology.
Conclusion
The proposed model describes a procedure and adaptations for home-to-home clinical practice in the neuropsychological assessment of Mexican patients that could also be used in other Latin American countries. Its reliability remains to be assessed, but this model and the suggestions proposed could be used in future studies and clinical trials for Mexican and Latin American populations.
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