Neurodevelopment in Young Children With Sex Chromosome Trisomies Diagnosed Before Birth: A Cluster Analysis Study.

IF 1.7 4区生物学 Q3 GENETICS & HEREDITY

American Journal of Medical Genetics Part A Pub Date : 2024-10-07 DOI:10.1002/ajmg.a.63895

Laura Zampini, Alessandra Lorini, Paola Zanchi, Nicoletta Scionti, Gaia Silibello, Francesca Dall'Ara, Paola Francesca Ajmone, Federico Monti, Maria Antonella Costantino, Paola Giovanna Vizziello

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Abstract

Many studies have investigated the neuropsychological profile of individuals with sex chromosome trisomies (SCTs) and have identified some fragilities in language development within a wide individual variability. However, only a few studies have focused on children in the second year of life (12-24 months), a crucial stage for neurodevelopment. The present study aimed to identify and describe neurodevelopmental patterns in young children with SCTs. Seventy children with SCTs, ranging in age from 14 to 29 months, were administered the Griffiths Mental Development Scales, and their different neurodevelopmental profiles were identified using cluster analysis. Two-step cluster analysis highlighted two profiles of children equally distributed between groups. The two clusters showed a similar pattern but different levels of functioning, with children in Cluster 1 showing a lower performance in all the areas considered than children in Cluster 2. However, in both clusters, all the mean scores were in the normative range, with a significant gap in the linguistic area. Identifying the subgroups of young children with SCTs at higher risk can contribute to developing early monitoring protocols and targeted therapy approaches.

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出生前诊断出性染色体三体的幼儿的神经发育：聚类分析研究

许多研究都对性染色体三体（SCT）患者的神经心理学特征进行了调查，并发现在个体差异很大的情况下，他们的语言发育存在一些缺陷。然而，只有少数研究关注了出生后第二年（12-24 个月）的儿童，而这正是神经发育的关键阶段。本研究旨在识别和描述患有小儿麻痹症的幼儿的神经发育模式。研究人员对 70 名年龄在 14 个月至 29 个月之间的 SCT 患儿进行了格里菲斯心理发展量表（Griffiths Mental Development Scales）测试，并通过聚类分析确定了他们不同的神经发育特征。两步聚类分析突出了两组儿童的特征，两组儿童的分布相当。这两个聚类显示出相似的模式，但功能水平不同，聚类 1 的儿童在所有方面的表现都低于聚类 2 的儿童。然而，在这两个群组中，所有的平均分都在常模范围内，只有在语言方面存在明显差距。找出小班幼儿中风险较高的亚群，有助于制定早期监测方案和有针对性的治疗方法。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

American Journal of Medical Genetics Part A 生物-遗传学

CiteScore

3.50

自引率

5.00%

发文量

432

审稿时长

2-4 weeks

期刊介绍： The American Journal of Medical Genetics - Part A (AJMG) gives you continuous coverage of all biological and medical aspects of genetic disorders and birth defects, as well as in-depth documentation of phenotype analysis within the current context of genotype/phenotype correlations. In addition to Part A , AJMG also publishes two other parts: Part B: Neuropsychiatric Genetics , covering experimental and clinical investigations of the genetic mechanisms underlying neurologic and psychiatric disorders. Part C: Seminars in Medical Genetics , guest-edited collections of thematic reviews of topical interest to the readership of AJMG .