Speech-Language Disorders in 22q11.2 Deletion Syndrome: Best Practices for Diagnosis and Management.
Speech-Language Disorders in 22q11.2 Deletion Syndrome: Best Practices for Diagnosis and Management.
复制标题
22q11.2 缺失综合征中的言语障碍：诊断和管理的最佳实践。
DOI：
10.1044/2019_ajslp-16-0147
复制
发表时间：
2019
影响因子：
2.6
通讯作者：
McDonald-McGinn,DonnaM
中科院分区：
文献类型：
--
作者：
Solot,CynthiaB;Sell,Debbie;Mayne,Anne;Baylis,AdrianeL;Persson,Christina;Jackson,Oksana;McDonald-McGinn,DonnaM
目的言语和语言障碍是22q11.2缺失综合征（22 qDS）的标志性特征。学习障碍、认知缺陷、腭异常、咽喉功能障碍、行为差异以及各种医学和精神疾病也是该综合征的主要特征。本文件的目标是总结目前的临床和科学知识的艺术状态，关于22 qDS的语音语言病理学家（SLP），并提供建议，临床management.MethodBest实践与22 qDS的个人管理的专家国际组的SLP和研究人员的专业知识，在22 qDS的共识。这些护理建议是基于作者的研究，临床经验，和文献综述。和相关的管理建议SLP的往往复杂的沟通障碍目前在这一人群中。结论早期诊断和适当的管理言语-22 qDS中的语言障碍对于优化结果和最小化沟通障碍的长期影响至关重要。对这种诊断的了解也可以为家庭、卫生保健和教育专业人员提供有关相关特征的预期护理和指导。
PurposeSpeech and language disorders are hallmark features of 22q11.2 deletion syndrome (22qDS). Learning disabilities, cognitive deficits, palate abnormalities, velopharyngeal dysfunction, behavioral differences, and various medical and psychiatric conditions are also major features of this syndrome. The goal of this document is to summarize the state of the art of current clinical and scientific knowledge regarding 22qDS for speech-language pathologists (SLPs) and provide recommendations for clinical management.MethodBest practices for management of individuals with 22qDS were developed by consensus of an expert international group of SLPs and researchers with expertise in 22qDS. These care recommendations are based on the authors' research, clinical experience, and literature review.ResultsThis document describes the features of 22qDS as well as evaluation procedures, treatment protocols, and associated management recommendations for SLPs for the often complex communication disorders present in this population.ConclusionEarly diagnosis and appropriate management of speech-language disorders in 22qDS is essential to optimize outcomes and to minimize the long-term effects of communication impairments. Knowledge of this diagnosis also allows anticipatory care and guidance regarding associated features for families, health care, and educational professionals.