Health supervision for children and adolescents with 16p11.2 deletion syndrome.

IF 1.8 Q3 MEDICINE, RESEARCH & EXPERIMENTAL Cold Spring Harbor Molecular Case Studies Pub Date : 2024-01-10 Print Date: 2023-12-01 DOI:10.1101/mcs.a006316

Wendy K Chung, Faranak F Herrera

引用次数: 0

Abstract

Rare genetic conditions are challenging for the primary care provider to manage without proper guidelines. This clinical review is designed to assist the pediatrician, family physician, or internist in the primary care setting to manage the complexities of 16p11.2 deletion syndrome. A multidisciplinary medical home with the primary care provider leading the care and armed with up-to-date guidelines will prove most helpful to the rare genetic patient population. A special focus on technology to fill gaps in deficits, review of case studies on novel medical treatments, and involvement with the educational system for advocacy with an emphasis on celebrating diversity will serve the rare genetic syndrome population well.

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16p11.2缺失综合征儿童和青少年的健康监督

本临床综述旨在帮助儿科医生、家庭医生或内科医生照顾通过染色体分析确诊为16p11.2缺失综合征的儿童、青少年、成人和家庭。虽然儿科医生与孩子的初次接触通常是在5岁以内，但偶尔也会有青少年或成年人在他们的兄弟姐妹或孩子被诊断出患有同样的疾病后进行测试和诊断。补充图1提供了针对临床医生年龄的指导。16p11.2缺失是神经发育障碍(1)和自闭症谱系障碍(ASD)最常见的遗传原因，其特征是运动言语障碍、语言障碍、运动协调困难、一定程度的发育迟缓、低于平均水平的认知、语言和非语言领域的学习障碍以及精神疾病。(表1)(2)。16p11.2缺失者存在一定程度的发育延迟，但其严重程度差异很大。对这些问题的认识和及时关注对于优化终身结果非常重要。没有病理表型特征可以促进快速临床诊断，然而，在一些缺失的个体中可以注意到椎体异常(通常导致脊柱侧凸)(3)、听力障碍、心脏畸形(3)、肾脏和泌尿道先天性异常(4)、略低于平均身高(3)、大头畸形(3)和颅缝闭合(3)。没有一个病人会具备所有这些特征。

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

Cold Spring Harbor Molecular Case Studies MEDICINE, RESEARCH & EXPERIMENTAL-

CiteScore

3.20

自引率

0.00%

发文量

期刊介绍： Cold Spring Harbor Molecular Case Studies is an open-access, peer-reviewed, international journal in the field of precision medicine. Articles in the journal present genomic and molecular analyses of individuals or cohorts alongside their clinical presentations and phenotypic information. The journal''s purpose is to rapidly share insights into disease development and treatment gained by application of genomics, proteomics, metabolomics, biomarker analysis, and other approaches. The journal covers the fields of cancer, complex diseases, monogenic disorders, neurological conditions, orphan diseases, infectious disease, gene therapy, and pharmacogenomics. It has a rapid peer-review process that is based on technical evaluation of the analyses performed, not the novelty of findings, and offers a swift, clear path to publication. The journal publishes: Research Reports presenting detailed case studies of individuals and small cohorts, Research Articles describing more extensive work using larger cohorts and/or functional analyses, Rapid Communications presenting the discovery of a novel variant and/or novel phenotype associated with a known disease gene, Rapid Cancer Communications presenting the discovery of a novel variant or combination of variants in a cancer type, Variant Discrepancy Resolution describing efforts to resolve differences or update variant interpretations in ClinVar through case-level data sharing, Follow-up Reports linked to previous observations, Plus Review Articles, Editorials, and Position Statements on best practices for research in precision medicine.