Neuropsychological Genotype-Phenotype in Patients with Williams Syndrome with Atypical Deletions: A Systematic Review.

IF 5.4 2区心理学 Q1 NEUROSCIENCES

Neuropsychology Review Pub Date : 2023-12-01 Epub Date: 2022-12-15 DOI:10.1007/s11065-022-09571-2

Carlos Alberto Serrano-Juárez, Belén Prieto-Corona, Mario Rodríguez-Camacho, Lucero Sandoval-Lira, Ángel Fernando Villalva-Sánchez, Ma Guillermina Yáñez-Téllez, María Fernanda Rangel López

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引用次数: 1

Abstract

Williams syndrome (WS) is a neurodevelopmental disorder caused by a microdeletion in the q11.23 region of chromosome 7. Recent case series reports and clinical case studies have suggested that the cognitive, behavioral, emotional, and social profile in WS could depend on the genes involved in the deletion. The objective of this systematic review was to analyze and synthesize the variability of the cognitive and behavioral profile of WS with atypical deletion and its probable relationship with the affected genes. The medical subject headings searched were "Williams syndrome," "genotype," "phenotype," "cognitive profile," and "atypical deletion." The studies included were in English or Spanish, with children and adults, and published between January 2000 and October 2022. Twenty-three studies are reported. The characteristics of the participants, the genes involved, the neuropsychological domains and instruments, and the prevalence of the WS cognitive profile criteria were used for the genotype-phenotype analysis. The genes with a major impact on the cognitive profile of WS were (a) LIMK1 and those belonging to the GTF2I family, the former with a greater influence on visuospatial abilities; (b) GTF2IRD1 and GTF2I, which have an impact on intellectual capacity as well as on visuospatial and social skills; (c) FZD9, BAZ1B, STX1A, and CLIP2, which influence the cognitive profile if other genes are also effected; and (d) GTF2IRD2, which is related to the severity of the effect on visuospatial and social skills, producing a behavioral phenotype like that of the autism spectrum. The review revealed four neuropsychological phenotypes, depending on the genes involved, and established the need for more comprehensive study of the neuropsychological profile of these patients. Based on the results found, we propose a model for the investigation of and clinical approach to the WS neuropsychological phenotype.

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威廉姆斯综合征非典型缺失患者的神经心理学基因型-表型：系统回顾

威廉姆斯综合征（WS）是一种由 7 号染色体 q11.23 区域微缺失引起的神经发育障碍。最近的系列病例报告和临床病例研究表明，WS 的认知、行为、情感和社交特征可能取决于缺失所涉及的基因。本系统性综述旨在分析和归纳非典型缺失的 WS 患者认知和行为特征的变异性及其与受影响基因的可能关系。搜索的医学主题词为 "威廉姆斯综合征"、"基因型"、"表型"、"认知特征 "和 "非典型缺失"。收录的研究为英语或西班牙语，对象为儿童和成人，发表时间为 2000 年 1 月至 2022 年 10 月。共报告了 23 项研究。研究人员的特征、所涉及的基因、神经心理学领域和工具以及 WS 认知特征标准的流行程度被用于基因型-表型分析。对 WS 认知特征有重大影响的基因有：(a) LIMK1 和 GTF2I 家族的基因，前者对视觉空间能力的影响更大；(b) GTF2IRD1 和 GTF2I，它们对智力以及视觉空间和社交能力都有影响；(c) FZD9、BAZ1B、STX1A 和 CLIP2，如果其他基因也受到影响，它们会影响认知能力；以及 (d) GTF2IRD2，它与对视觉空间和社交能力影响的严重程度有关，会产生类似自闭症谱系的行为表型。综述揭示了四种神经心理学表型，取决于所涉及的基因，并确定有必要对这些患者的神经心理学特征进行更全面的研究。根据研究结果，我们提出了一种针对 WS 神经心理学表型的研究模式和临床方法。

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来源期刊

Neuropsychology Review 医学-神经科学

CiteScore

11.00

自引率

1.70%

发文量

期刊介绍： Neuropsychology Review is a quarterly, refereed publication devoted to integrative review papers on substantive content areas in neuropsychology, with particular focus on populations with endogenous or acquired conditions affecting brain and function and on translational research providing a mechanistic understanding of clinical problems. Publication of new data is not the purview of the journal. Articles are written by international specialists in the field, discussing such complex issues as distinctive functional features of central nervous system disease and injury; challenges in early diagnosis; the impact of genes and environment on function; risk factors for functional impairment; treatment efficacy of neuropsychological rehabilitation; the role of neuroimaging, neuroelectrophysiology, and other neurometric modalities in explicating function; clinical trial design; neuropsychological function and its substrates characteristic of normal development and aging; and neuropsychological dysfunction and its substrates in neurological, psychiatric, and medical conditions. The journal''s broad perspective is supported by an outstanding, multidisciplinary editorial review board guided by the aim to provide students and professionals, clinicians and researchers with scholarly articles that critically and objectively summarize and synthesize the strengths and weaknesses in the literature and propose novel hypotheses, methods of analysis, and links to other fields.