Auditory neuropathy (AN) was reported 30 years ago in 1979 when Davis and Hirsh presented the first case with normal or near normal hearing threshold but absent auditory brainstem responses.Many names have been given ...Auditory neuropathy (AN) was reported 30 years ago in 1979 when Davis and Hirsh presented the first case with normal or near normal hearing threshold but absent auditory brainstem responses.Many names have been given since then including paradoxical hearing loss,brainstem auditory processing syndrome,central auditory dysfunction,neural synchrony disorder or neural dyssynchrony.The term auditory neuropathy was first given by Sininger and colleagues in 1995.More and more AN articles have been published in recent years.The present short review and case report focus on the most important characteristics from a clinical point of view in order to let young physicians know AN,and consequently make correct diagnosis.展开更多
目的系统评估言语与语言康复和教育干预对智力与发展性残疾(IDD)儿童的效果。方法检索PubMed、PsycINFO、ERIC、Cochrane Library、Web of Science数据库相关文献进行系统综述,检索时限为2018年1月至2024年5月。结果最终纳入8篇英文文献...目的系统评估言语与语言康复和教育干预对智力与发展性残疾(IDD)儿童的效果。方法检索PubMed、PsycINFO、ERIC、Cochrane Library、Web of Science数据库相关文献进行系统综述,检索时限为2018年1月至2024年5月。结果最终纳入8篇英文文献,来自美国、法国、意大利、挪威、波兰、新西兰6个国家,涉及610例IDD儿童,来源于言语语言病理学、唐氏综合征研究、言语语言听力研究等期刊。发表时间主要集中在2018年至2023年。研究对象年龄2~12岁,主要健康状况包括智力发育迟缓、孤独症、唐氏综合征。干预类型包括传统言语治疗(个体化治疗和小组治疗)、增强与替代沟通(设备辅助和手语及图卡)、家庭参与的语言训练计划(家长培训和家庭互动)、计算机辅助语言学习(语言学习软件和远程健康)、基于游戏的干预(互动游戏和结构化游戏)。每次15~150 min,每周1~10次,持续10~144周。康复结局体现在5个方面:增加口语表达中的词汇量;改善语言理解、符号识别和词汇理解能力;表达性语言和接受性语言能力提高;参与的游戏多样性和游戏参与水平改善,沟通率、社会交往和互动能力提高;整体语言和非语言交流能力提高。结论结合个体化治疗、家庭参与、技术辅助和互动游戏等多种方法的康复干预,对IDD儿童口语生成、语言理解、言语生成、社会交往和交流能力等方面有显著效果。展开更多
目的探究家庭互动式阅读对1~6岁语言发育迟缓(language development delay,LDD)患儿语言康复的作用。方法随机数字表法将本院2020年4月~2021年6月就诊的85例1~6岁LDD患儿分为研究组43例与对照组42例,对照组给予药物干预和康复训练,研究...目的探究家庭互动式阅读对1~6岁语言发育迟缓(language development delay,LDD)患儿语言康复的作用。方法随机数字表法将本院2020年4月~2021年6月就诊的85例1~6岁LDD患儿分为研究组43例与对照组42例,对照组给予药物干预和康复训练,研究组在对照组基础上加以家庭互动式阅读。干预3个月后评价疗效及家长满意度,干预前后Gesell发育量表(gesell developmental test scales,GDS)调查。结果研究组总有效率83.72%,显著高于对照组61.90%(P<0.05)。干预后两组GDS量表各行为发育商(development quotient,DQ)评分比干预前均显著提升,且研究组显著高于对照组(P<0.05)。干预后研究组患儿家长对康复效果、专业水平、服务态度、人文关怀评分及总分均显著高于对照组(P<0.05)。结论家庭互动式阅读有利于1~6岁LDD患儿语言、运动行为改善,家长满意度高。展开更多
BACKGROUND Special AT-rich sequence binding protein 2(SATB2)-associated syndrome(SAS;OMIM 612313)is an autosomal dominant disorder.Alterations in the SATB2 gene have been identified as causative.CASE SUMMARY We report...BACKGROUND Special AT-rich sequence binding protein 2(SATB2)-associated syndrome(SAS;OMIM 612313)is an autosomal dominant disorder.Alterations in the SATB2 gene have been identified as causative.CASE SUMMARY We report a case of a 13-year-old Chinese boy with lifelong global developmental delay,speech and language delay,and intellectual disabilities.He had short stature and irregular dentition,but no other abnormal clinical findings.A de novo heterozygous nonsense point mutation was detected by genetic analysis in exon 6 of SATB2,c.687C>A(p.Y229X)(NCBI reference sequence:NM_001172509.2),and neither of his parents had the mutation.This mutation is the first reported and was evaluated as pathogenic according to the guidelines from the American College of Medical Genetics and Genomics.SAS was diagnosed,and special education performed.Our report of a SAS case in China caused by a SATB2 mutation expanded the genotype options for the disease.The heterogeneous manifestations can be induced by complicated pathogenic involvements and functions of SATB2 from reviewed literatures:(1)SATB2 haploinsufficiency;(2)the interference of truncated SATB2 protein to wild-type SATB2;and(3)different numerous genes regulated by SATB2 in brain and skeletal development in different developmental stages.CONCLUSION Global developmental delays are usually the initial presentations,and the diagnosis was challenging before other presentations occurred.Regular follow-up and genetic analysis can help to diagnose SAS early.Verification for genes affected by SATB2 mutations for heterogeneous manifestations may help to clarify the possible pathogenesis of SAS in the future.展开更多
文摘Auditory neuropathy (AN) was reported 30 years ago in 1979 when Davis and Hirsh presented the first case with normal or near normal hearing threshold but absent auditory brainstem responses.Many names have been given since then including paradoxical hearing loss,brainstem auditory processing syndrome,central auditory dysfunction,neural synchrony disorder or neural dyssynchrony.The term auditory neuropathy was first given by Sininger and colleagues in 1995.More and more AN articles have been published in recent years.The present short review and case report focus on the most important characteristics from a clinical point of view in order to let young physicians know AN,and consequently make correct diagnosis.
文摘目的系统评估言语与语言康复和教育干预对智力与发展性残疾(IDD)儿童的效果。方法检索PubMed、PsycINFO、ERIC、Cochrane Library、Web of Science数据库相关文献进行系统综述,检索时限为2018年1月至2024年5月。结果最终纳入8篇英文文献,来自美国、法国、意大利、挪威、波兰、新西兰6个国家,涉及610例IDD儿童,来源于言语语言病理学、唐氏综合征研究、言语语言听力研究等期刊。发表时间主要集中在2018年至2023年。研究对象年龄2~12岁,主要健康状况包括智力发育迟缓、孤独症、唐氏综合征。干预类型包括传统言语治疗(个体化治疗和小组治疗)、增强与替代沟通(设备辅助和手语及图卡)、家庭参与的语言训练计划(家长培训和家庭互动)、计算机辅助语言学习(语言学习软件和远程健康)、基于游戏的干预(互动游戏和结构化游戏)。每次15~150 min,每周1~10次,持续10~144周。康复结局体现在5个方面:增加口语表达中的词汇量;改善语言理解、符号识别和词汇理解能力;表达性语言和接受性语言能力提高;参与的游戏多样性和游戏参与水平改善,沟通率、社会交往和互动能力提高;整体语言和非语言交流能力提高。结论结合个体化治疗、家庭参与、技术辅助和互动游戏等多种方法的康复干预,对IDD儿童口语生成、语言理解、言语生成、社会交往和交流能力等方面有显著效果。
文摘目的探究家庭互动式阅读对1~6岁语言发育迟缓(language development delay,LDD)患儿语言康复的作用。方法随机数字表法将本院2020年4月~2021年6月就诊的85例1~6岁LDD患儿分为研究组43例与对照组42例,对照组给予药物干预和康复训练,研究组在对照组基础上加以家庭互动式阅读。干预3个月后评价疗效及家长满意度,干预前后Gesell发育量表(gesell developmental test scales,GDS)调查。结果研究组总有效率83.72%,显著高于对照组61.90%(P<0.05)。干预后两组GDS量表各行为发育商(development quotient,DQ)评分比干预前均显著提升,且研究组显著高于对照组(P<0.05)。干预后研究组患儿家长对康复效果、专业水平、服务态度、人文关怀评分及总分均显著高于对照组(P<0.05)。结论家庭互动式阅读有利于1~6岁LDD患儿语言、运动行为改善,家长满意度高。
文摘BACKGROUND Special AT-rich sequence binding protein 2(SATB2)-associated syndrome(SAS;OMIM 612313)is an autosomal dominant disorder.Alterations in the SATB2 gene have been identified as causative.CASE SUMMARY We report a case of a 13-year-old Chinese boy with lifelong global developmental delay,speech and language delay,and intellectual disabilities.He had short stature and irregular dentition,but no other abnormal clinical findings.A de novo heterozygous nonsense point mutation was detected by genetic analysis in exon 6 of SATB2,c.687C>A(p.Y229X)(NCBI reference sequence:NM_001172509.2),and neither of his parents had the mutation.This mutation is the first reported and was evaluated as pathogenic according to the guidelines from the American College of Medical Genetics and Genomics.SAS was diagnosed,and special education performed.Our report of a SAS case in China caused by a SATB2 mutation expanded the genotype options for the disease.The heterogeneous manifestations can be induced by complicated pathogenic involvements and functions of SATB2 from reviewed literatures:(1)SATB2 haploinsufficiency;(2)the interference of truncated SATB2 protein to wild-type SATB2;and(3)different numerous genes regulated by SATB2 in brain and skeletal development in different developmental stages.CONCLUSION Global developmental delays are usually the initial presentations,and the diagnosis was challenging before other presentations occurred.Regular follow-up and genetic analysis can help to diagnose SAS early.Verification for genes affected by SATB2 mutations for heterogeneous manifestations may help to clarify the possible pathogenesis of SAS in the future.
