Age of diagnosis for children with chromosome 15q syndromes.

IF 4.1 2区医学 Q1 CLINICAL NEUROLOGY Journal of Neurodevelopmental Disorders Pub Date : 2023-11-07 DOI:10.1186/s11689-023-09504-x

Anne C Wheeler, Marie G Gantz, Heidi Cope, Theresa V Strong, Jessica E Bohonowych, Amanda Moore, Vanessa Vogel-Farley

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Abstract

Objective: The objective of this study was to identify the age of diagnosis for children with one of three neurogenetic conditions resulting from changes in chromosome 15 (Angelman syndrome [AS], Prader-Willi syndrome [PWS], and duplication 15q syndrome [Dup15q]).

Methods: Data about the diagnostic process for each condition were contributed by the advocacy organizations. Median and interquartile ranges were calculated for each condition by molecular subtype and year. Comparison tests were run to explore group differences.

Results: The median age of diagnosis was 1.8 years for both AS and Dup15q. PWS was diagnosed significantly younger at a median age of 1 month. Deletion subtypes for both PWS and AS were diagnosed earlier than nondeletion subtypes, and children with isodicentric duplications in Dup15q were diagnosed earlier than those with interstitial duplications.

Conclusion: Understanding variability in the age of diagnosis for chromosome 15 disorders is an important step in reducing the diagnostic odyssey and improving access to interventions for these populations. Results from this study provide a baseline by which to evaluate efforts to reduce the age of diagnosis for individuals with these conditions.

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染色体15q综合征患儿的诊断年龄。

目的：本研究的目的是确定患有由15号染色体改变引起的三种神经遗传疾病之一（Angelman综合征[AS]、Prader-Willi综合征[PWS]和重复15q综合征[Dup15q]）的儿童的诊断年龄。方法：有关每种疾病的诊断过程的数据由倡导组织提供。根据分子亚型和年份计算每种情况的中位数和四分位数间距。进行比较测试以探究组间差异。结果：AS和Dup15q的中位诊断年龄均为1.8岁。PWS在中位年龄1个月时被诊断为明显年轻。PWS和AS的缺失亚型比非缺失亚型更早被诊断，Dup15q中有等心重复的儿童比有间质重复的儿童更早被诊断。结论：了解15号染色体疾病诊断年龄的变异性是减少诊断困难和改善这些人群获得干预的重要一步。这项研究的结果为评估降低这些疾病患者诊断年龄的努力提供了一个基线。

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

Journal of Neurodevelopmental Disorders 医学-临床神经学

CiteScore

7.60

自引率

4.10%

发文量

审稿时长

>12 weeks

期刊介绍： Journal of Neurodevelopmental Disorders is an open access journal that integrates current, cutting-edge research across a number of disciplines, including neurobiology, genetics, cognitive neuroscience, psychiatry and psychology. The journal’s primary focus is on the pathogenesis of neurodevelopmental disorders including autism, fragile X syndrome, tuberous sclerosis, Turner Syndrome, 22q Deletion Syndrome, Prader-Willi and Angelman Syndrome, Williams syndrome, lysosomal storage diseases, dyslexia, specific language impairment and fetal alcohol syndrome. With the discovery of specific genes underlying neurodevelopmental syndromes, the emergence of powerful tools for studying neural circuitry, and the development of new approaches for exploring molecular mechanisms, interdisciplinary research on the pathogenesis of neurodevelopmental disorders is now increasingly common. Journal of Neurodevelopmental Disorders provides a unique venue for researchers interested in comparing and contrasting mechanisms and characteristics related to the pathogenesis of the full range of neurodevelopmental disorders, sharpening our understanding of the etiology and relevant phenotypes of each condition.