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对两名患有不同类型基因缺失的威廉姆斯综合征患者进行的注意力和视觉空间技能方面的神经心理学干预。

Neuropsychological intervention in attention and visuospatial skills in two patients with Williams syndrome with different types of genetic deletion.

作者信息

Domínguez-García Cintia Michelle, Serrano-Juárez Carlos Alberto, Rodríguez-Camacho Mario, Moreno-Villagómez Julieta, Araujo Solís María Antonieta, Prieto-Corona Belén

机构信息

Facultad de Estudios Superiores Iztacala, UNAM, Los Reyes Iztacala, Tlalnepantla, Mexico.

Laboratorio de Neurometría, Grupo de Neurociencias, Facultad de Estudios Superiores Iztacala, UNAM, Los Reyes Iztacala, Tlalnepantla, México.

出版信息

Appl Neuropsychol Child. 2023 Apr-Jun;12(2):177-186. doi: 10.1080/21622965.2022.2063723. Epub 2022 Apr 27.

Abstract

Williams Syndrome (WS) is a neurodevelopmental disorder with a distinctive physical, cognitive, and behavioral profile caused by a microdeletion in the q11.23 region of chromosome 7. The neuropsychological profile of WS is characterized by intellectual disability, hypersociability, and deficits, especially in attention and visuospatial skills. Our objective was to assess the effectiveness of a neuropsychological intervention program in attention and visuospatial skills in two patients with WS (aged 7 and 13 years old) with different types of deletion (1.5 and 1.8 Mb). Cognitive, behavioral, and adaptive abilities were evaluated through various neuropsychological tests and scales; the neuropsychological intervention program was subsequently applied, and we assessed its effectiveness. Both patients initially presented significant deficits in attention and visuospatial skills. After the program, we found improvements in attention and visuospatial skills. In addition, both patients had significant clinical advances and changes in adaptive behaviors (social and self-care). These findings suggest that this intervention program could improve attention processes, visuospatial skills, and some aspects of adaptive behavior in patients with WS, regardless of deletion size. Although the sample was small, limiting the generalizability of the results, we believe this program could be a helpful resource for professionals working with individuals with WS.

摘要

威廉姆斯综合征(WS)是一种神经发育障碍,由7号染色体q11.23区域的微缺失引起,具有独特的身体、认知和行为特征。WS的神经心理学特征表现为智力残疾、高度社交性以及缺陷,尤其是在注意力和视觉空间技能方面。我们的目的是评估一项神经心理学干预计划对两名不同类型缺失(1.5和1.8 Mb)的WS患者(年龄分别为7岁和13岁)在注意力和视觉空间技能方面的有效性。通过各种神经心理学测试和量表评估认知、行为和适应能力;随后应用神经心理学干预计划,并评估其有效性。两名患者最初在注意力和视觉空间技能方面均存在显著缺陷。经过该计划后,我们发现他们在注意力和视觉空间技能方面有所改善。此外,两名患者在临床方面都有显著进展,适应行为(社交和自我照顾)也发生了变化。这些发现表明,该干预计划可以改善WS患者的注意力过程、视觉空间技能以及适应行为的某些方面,而与缺失大小无关。尽管样本量较小,限制了结果的普遍性,但我们认为该计划可能是从事WS患者工作的专业人员的有益资源。

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