Genetic Bases of Developmental Language Disorders
发育性语言障碍的遗传基础
基本信息
- 批准号:7588720
- 负责人:
- 金额:$ 58.98万
- 依托单位:
- 依托单位国家:美国
- 项目类别:
- 财政年份:2006
- 资助国家:美国
- 起止时间:2006-04-15 至 2011-03-31
- 项目状态:已结题
- 来源:
- 关键词:AddressAdolescentAdultAffectAgeArchitectureAreaBehavioralBlood specimenBreedingCandidate Disease GeneCell LineChildChromosome DeletionChromosome MappingChromosome abnormalityComplexComputer softwareConsentCopy Number PolymorphismCross-Sectional StudiesCytogeneticsDNADataData FilesDevelopmentDiagnosisDiagnosticDiseaseEpigenetic ProcessEtiologyEvaluationExhibitsFrequenciesGenerationsGenesGeneticGenetic TechniquesGenetic VariationGenomeGenomicsGenotypeImpairmentIncidenceIndividualLanguageLanguage DelaysLanguage Development DisordersLanguage DisordersLinguisticsMethodsMethylationMolecular GeneticsMultivariate AnalysisNatureNuclearNuclear FamilyOther GeneticsOutcomePatternPhenotypePopulationPopulation GeneticsProcessReadingRecording of previous eventsRelative (related person)ResearchResearch DesignResearch PersonnelRisk FactorsRussiaSamplingSchemeSeveritiesSignal TransductionSpeechStagingStructureSubgroupSwabTechniquesWhole BloodWorkWritingagedbasedesignfollow-upgenetic analysisgenetic pedigreegenetic profilinggenome-wideimpressioninterestmeetingsmemberphonologyprobandprogramssegregationsuccesstraittransmission process
项目摘要
Disorders of spoken and written language (DSWLs) are the most prevalent group of disorders in children. A
number of them, although partially remediated, persist in adulthood. We intend to investigate genetic bases
of DSWLs in affected children in an isolated population in a remote area of Northern Russia (hereafter
referred to as OSH) and a large extended pedigree ascertained through a subgroup of affected child
probands. Because of its complexity and size, the pedigree essentially represents the majority of the isolate.
Established in the 10th and 11 th centuries, OSH has a history of relative isolation. Currently, it includes -850
individuals, -200 of whom are children under age 18. Probands were previously identified by Russian
collaborators on the project, using Russian diagnostic schemes for speech and language impairments in an
evaluation of all children 18 and younger. Of 130 assessed children and adolescents (aged 7-18), 95
(-73%) were diagnosed clinically with a variety of DSWLs. In addition, although not clinically diagnosed,
many children had deficits in speech and language-related domains (e.g., pronunciation, reading, writing,
phonological processing). Of 25 young children (aged 2-6) assessed, 17 had difficulties in pronunciation and
exhibited language delays and/or impairments. Of the 60 evaluated adults related to the diagnosed children,
45 demonstrated various deficiencies related to DSWLs. Genealogical and ethnographical suggest that OSH
was founded by 5-7 individuals, and that approximately 80% of the people there are relatives of various
degrees. The population is genetically homogeneous and inbred, but is characterized by a high degree of
genetic variation across the genome, making it suitable for genetic analyses. Our Russian collaborators have
been collecting DNA samples from OSH residents. Currently, 404 cell lines have been established, 487
DMAs extracted from whole blood specimens without an available cell line, and 47 DMAs extracted from
buccal swabs. We here propose to (1) carefully characterize the phenotypes transmitted in the OSH
pedigree; (2) carry out complex multivariate analyses to understand the transmission patterns of DSWL; and
(3) conduct whole-genome sampling analyses on selected nuclear branches of the OSH pedigree that
contain multiple affected individuals in at least three generations.
口语和书面语言障碍 (DSWL) 是儿童中最常见的一组疾病。一个
其中许多问题虽然得到了部分补救,但在成年后仍持续存在。我们打算研究遗传基础
俄罗斯北部偏远地区(以下简称“偏远地区”)偏远地区受影响儿童的 DSWL
称为 OSH),并通过受影响儿童的亚组确定了一个大的扩展谱系
先证者。由于其复杂性和规模,谱系基本上代表了分离株的大部分。
OSH 成立于 10 世纪和 11 世纪,有着相对孤立的历史。目前,它包括-850
个人,其中 -200 人是 18 岁以下的儿童。先证者之前已被俄罗斯确定
该项目的合作者使用俄语诊断方案来诊断言语和语言障碍
对所有 18 岁及以下儿童的评估。在 130 名接受评估的儿童和青少年(7-18 岁)中,95
(-73%) 被临床诊断为各种 DSWL。此外,虽然没有临床诊断,
许多儿童在言语和语言相关领域(例如发音、阅读、写作、
语音处理)。在接受评估的 25 名幼儿(2-6 岁)中,有 17 名存在发音和语言困难。
表现出语言迟缓和/或障碍。在接受评估的 60 名与确诊儿童有关的成年人中,
45 展示了与 DSWL 相关的各种缺陷。谱系学和人种学表明,职业安全与卫生
是由5-7个人创立的,大约80%的人都是各种亲戚的亲戚
度。该群体在遗传上是同质的和近亲繁殖的,但其特点是高度相似
整个基因组的遗传变异,使其适合遗传分析。我们的俄罗斯合作者有
一直在从 OSH 居民那里收集 DNA 样本。目前已建立404个细胞系,487个
从没有可用细胞系的全血样本中提取的 DMA,以及从无可用细胞系中提取的 47 种 DMA
口腔拭子。我们在此建议 (1) 仔细表征 OSH 中传播的表型
谱系; (2) 进行复杂的多变量分析以了解 DSWL 的传播模式;和
(3) 对选定的 OSH 谱系核分支进行全基因组采样分析,
包含至少三代的多个受影响个体。
项目成果
期刊论文数量(0)
专著数量(0)
科研奖励数量(0)
会议论文数量(0)
专利数量(0)
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ELENA L GRIGORENKO其他文献
ELENA L GRIGORENKO的其他文献
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{{ truncateString('ELENA L GRIGORENKO', 18)}}的其他基金
Transdiagnostic Associations Across Developmental Disorders
发育障碍的跨诊断关联
- 批准号:
10501785 - 财政年份:2022
- 资助金额:
$ 58.98万 - 项目类别:
Transdiagnostic Associations Across Developmental Disorders
发育障碍的跨诊断关联
- 批准号:
10701008 - 财政年份:2022
- 资助金额:
$ 58.98万 - 项目类别:
Severe LD in Juvenile Delinquents: Presentation, Course, and Remediation
青少年犯罪中的严重LD:介绍、课程和补救
- 批准号:
9761327 - 财政年份:2017
- 资助金额:
$ 58.98万 - 项目类别:
Severe LD in Juvenile Delinquents: Presentation, Course, and Remediation
青少年犯罪中的严重LD:介绍、课程和补救
- 批准号:
9982116 - 财政年份:2017
- 资助金额:
$ 58.98万 - 项目类别:
Supplement: Severe LD in Juvenile Delinquents: Presentation, Course, and Remediation
补充:青少年犯罪中的严重LD:介绍、课程和补救
- 批准号:
10384819 - 财政年份:2017
- 资助金额:
$ 58.98万 - 项目类别:
A Community-Based Evaluation of Interventions for Orphans and Vulnerable Children
对孤儿和弱势儿童干预措施的社区评估
- 批准号:
9278218 - 财政年份:2015
- 资助金额:
$ 58.98万 - 项目类别:
A Community-Based Evaluation of Interventions for Orphans and Vulnerable Children
对孤儿和弱势儿童干预措施的社区评估
- 批准号:
9119082 - 财政年份:2015
- 资助金额:
$ 58.98万 - 项目类别:
The genetic bases of reading and related processes in Russian
俄语阅读及相关过程的遗传基础
- 批准号:
8205519 - 财政年份:2011
- 资助金额:
$ 58.98万 - 项目类别:
The genetic bases of reading and related processes in Russian
俄语阅读及相关过程的遗传基础
- 批准号:
8317302 - 财政年份:2011
- 资助金额:
$ 58.98万 - 项目类别:
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