{"title":"7q11.23重复综合征儿童:言语、语言、认知和行为特征及其干预意义","authors":"Shelley L Velleman, Carolyn B Mervis","doi":"10.1044/lle18.3.108","DOIUrl":null,"url":null,"abstract":"<p><p>7q11.23 duplication syndrome is a recently-documented genetic disorder associated with severe speech delay, language delay, a characteristic facies, hypotonia, developmental delay, and social anxiety. Developmentally appropriate nonverbal pragmatic abilities are demonstrated in socially comfortable situations. Motor speech disorder (Childhood Apraxia of Speech and/or dysarthria), oral apraxia, and/or phonological disorder or symptoms of these disorders are common as are characteristics consistent with expressive language disorder. Intensive speech/language therapy is critical for maximizing long-term outcomes.</p>","PeriodicalId":88952,"journal":{"name":"Perspectives on language learning and education","volume":"18 3","pages":"108-116"},"PeriodicalIF":0.0000,"publicationDate":"2011-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1044/lle18.3.108","citationCount":"63","resultStr":"{\"title\":\"Children with 7q11.23 Duplication Syndrome: Speech, Language, Cognitive, and Behavioral Characteristics and their Implications for Intervention.\",\"authors\":\"Shelley L Velleman, Carolyn B Mervis\",\"doi\":\"10.1044/lle18.3.108\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>7q11.23 duplication syndrome is a recently-documented genetic disorder associated with severe speech delay, language delay, a characteristic facies, hypotonia, developmental delay, and social anxiety. Developmentally appropriate nonverbal pragmatic abilities are demonstrated in socially comfortable situations. Motor speech disorder (Childhood Apraxia of Speech and/or dysarthria), oral apraxia, and/or phonological disorder or symptoms of these disorders are common as are characteristics consistent with expressive language disorder. Intensive speech/language therapy is critical for maximizing long-term outcomes.</p>\",\"PeriodicalId\":88952,\"journal\":{\"name\":\"Perspectives on language learning and education\",\"volume\":\"18 3\",\"pages\":\"108-116\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2011-10-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://sci-hub-pdf.com/10.1044/lle18.3.108\",\"citationCount\":\"63\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Perspectives on language learning and education\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1044/lle18.3.108\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Perspectives on language learning and education","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1044/lle18.3.108","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Children with 7q11.23 Duplication Syndrome: Speech, Language, Cognitive, and Behavioral Characteristics and their Implications for Intervention.
7q11.23 duplication syndrome is a recently-documented genetic disorder associated with severe speech delay, language delay, a characteristic facies, hypotonia, developmental delay, and social anxiety. Developmentally appropriate nonverbal pragmatic abilities are demonstrated in socially comfortable situations. Motor speech disorder (Childhood Apraxia of Speech and/or dysarthria), oral apraxia, and/or phonological disorder or symptoms of these disorders are common as are characteristics consistent with expressive language disorder. Intensive speech/language therapy is critical for maximizing long-term outcomes.