Abstract:
BACKGROUND:Recent advances in understanding molecular and synaptic mechanisms of intellectual disabilities (ID) in fragile X syndrome (FXS) and Down syndrome (DS) through animal models have led to targeted controlled trials with pharmacological agents designed to normalize these underlying mechanisms and improve clinical outcomes. However, several human clinical trials have failed to demonstrate efficacy of these targeted treatments to improve surrogate behavioral endpoints. Because the ultimate index of disease modification in these disorders is amelioration of ID, the validation of cognitive measures for tracking treatment response is essential. Here, we present preliminary research to validate the National Institutes of Health Toolbox Cognitive Battery (NIH-TCB) for ID. METHODS:We completed three pilot studies of patients with FXS (total n = 63; mean age 19.3 ± 8.3 years, mean mental age 5.3 ± 1.6 years), DS (n = 47; mean age 16.1 ± 6.2, mean mental age 5.4 ± 2.0), and idiopathic ID (IID; n = 16; mean age 16.1 ± 5.0, mean mental age 6.6 ± 2.3) measuring processing speed, executive function, episodic memory, word/letter reading, receptive vocabulary, and working memory using the web-based NIH-TB-CB, addressing feasibility, test-retest reliability, construct validity, ecological validity, and syndrome differences and profiles. RESULTS:Feasibility was good to excellent (≥80 % of participants with valid scores) for above mental age 4 years for all tests except list sorting (working memory). Test-retest stability was good to excellent, and convergent validity was similar to or better than results obtained from typically developing children in the normal sample for executive function and language measures. Examination of ecological validity revealed moderate to very strong correlations between the NIH-TCB composite and adaptive behavior and full-scale IQ measures. Syndrome/group comparisons demonstrated significant deficits for the FXS and DS groups relative to IID on attention and inhibitory control, a significant reading weakness for FXS, and a receptive vocabulary weakness for DS. CONCLUSIONS:The NIH-TCB has potential for assessing important dimensions of cognition in persons with ID, and several tests may be useful for tracking response to intervention. However, more extensive psychometric studies, evaluation of the NIH-TCB's sensitivity to change, both developmentally and in the context of treatment, and perhaps establishing links to brain function in these populations, are required to determine the true utility of the battery as a set of outcome measures.
journal_name
J Neurodev Disordjournal_title
Journal of neurodevelopmental disordersauthors
Hessl D,Sansone SM,Berry-Kravis E,Riley K,Widaman KF,Abbeduto L,Schneider A,Coleman J,Oaklander D,Rhodes KC,Gershon RCdoi
10.1186/s11689-016-9167-4subject
Has Abstractpub_date
2016-09-06 00:00:00pages
35issue
1eissn
1866-1947issn
1866-1955pii
9167journal_volume
8pub_type
杂志文章abstract::Fragile X syndrome (FXS) is the most common identifiable genetic cause of intellectual disability and autistic spectrum disorders (ASD), with up to 50% of males and some females with FXS meeting criteria for ASD. Autistic features are present in a very high percent of individuals with FXS, even those who do not meet f...
journal_title:Journal of neurodevelopmental disorders
pub_type: 杂志文章
doi:10.1007/s11689-011-9074-7
更新日期:2011-09-01 00:00:00
abstract::Activation of maternal stress response systems during pregnancy has been associated with altered postpartum maternal care and subsequent abnormalities in the offspring's brain and behavioral development. It remains unknown, however, whether similar effects may be induced by exposure to immunological stress during preg...
journal_title:Journal of neurodevelopmental disorders
pub_type: 杂志文章
doi:10.1007/s11689-008-9000-9
更新日期:2009-03-01 00:00:00
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更新日期:2019-08-19 00:00:00
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journal_title:Journal of neurodevelopmental disorders
pub_type: 杂志文章
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更新日期:2015-01-01 00:00:00
abstract::The primary goal of this study was to examine environmental and neuroendocrine factors that convey increased risk for elevated autistic behavior in boys with Fragile X syndrome (FXS). This study involves three related analyses: (1) examination of multiple dimensions of social approach behaviors and how they vary over ...
journal_title:Journal of neurodevelopmental disorders
pub_type: 杂志文章
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更新日期:2009-12-01 00:00:00
abstract::[This corrects the article DOI: 10.1186/s11689-016-9179-0.]. ...
journal_title:Journal of neurodevelopmental disorders
pub_type: 已发布勘误
doi:10.1186/s11689-017-9192-y
更新日期:2017-03-06 00:00:00
abstract:BACKGROUND:Fragile X syndrome (FXS) is a genetic disorder that is highly comorbid with anxiety and autism spectrum disorder (ASD). Elevated negative affect in young children has been associated with increased risk for both anxiety and ASD; however, these relations remain poorly understood in FXS. METHODS:The present p...
journal_title:Journal of neurodevelopmental disorders
pub_type: 杂志文章
doi:10.1186/s11689-019-9284-y
更新日期:2019-09-13 00:00:00
abstract:UNLABELLED: BACKGROUND:A previous study reported enhanced psychomotor speed, and subtle but significant cognitive impairments, modulated by age and by mutations in the fragile X mental retardation 1 (FMR1) gene in adult female fragile X premutation carriers (fXPCs). Because male carriers, unlike females, do not have a...
journal_title:Journal of neurodevelopmental disorders
pub_type: 杂志文章
doi:10.1186/1866-1955-4-26
更新日期:2012-11-13 00:00:00
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journal_title:Journal of neurodevelopmental disorders
pub_type: 杂志文章
doi:10.1186/s11689-016-9144-y
更新日期:2016-04-15 00:00:00
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journal_title:Journal of neurodevelopmental disorders
pub_type: 杂志文章
doi:10.1186/1866-1955-4-27
更新日期:2012-11-24 00:00:00
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journal_title:Journal of neurodevelopmental disorders
pub_type: 杂志文章
doi:10.1186/1866-1955-4-17
更新日期:2012-06-07 00:00:00
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journal_title:Journal of neurodevelopmental disorders
pub_type: 杂志文章
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abstract:BACKGROUND:Perinatal exposure to air pollution and immune system dysregulation are two factors consistently associated with autism spectrum disorders (ASD) and other neurodevelopmental outcomes. However, little is known about how air pollution may influence maternal immune function during pregnancy. OBJECTIVES:To asse...
journal_title:Journal of neurodevelopmental disorders
pub_type: 杂志文章
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更新日期:2020-12-16 00:00:00
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journal_title:Journal of neurodevelopmental disorders
pub_type: 杂志文章,评审
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pub_type: 杂志文章
doi:10.1186/s11689-016-9165-6
更新日期:2016-08-18 00:00:00
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journal_title:Journal of neurodevelopmental disorders
pub_type: 杂志文章,已发布勘误
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更新日期:2020-04-02 00:00:00
abstract:BACKGROUND:The mitochondrial aminoacyl-tRNA synthetase proteins (mt-aaRSs) are a group of nuclear-encoded enzymes that facilitate conjugation of each of the 20 amino acids to its cognate tRNA molecule. Mitochondrial diseases are a large, clinically heterogeneous group of disorders with diverse etiologies, ages of onset...
journal_title:Journal of neurodevelopmental disorders
pub_type: 杂志文章,评审
doi:10.1186/s11689-019-9292-y
更新日期:2019-12-16 00:00:00
abstract:BACKGROUND:Children with autism spectrum disorder (ASD) show impairment in reciprocal social communication, which includes deficits in social cognition and behavior. Since social cognition and social behavior are considered to be interdependent, it is valuable to examine social processes on multiple levels of analysis....
journal_title:Journal of neurodevelopmental disorders
pub_type: 杂志文章
doi:10.1186/1866-1955-6-35
更新日期:2014-01-01 00:00:00
abstract:BACKGROUND:Autonomic dysfunction is implicated in a range of psychological conditions, including depression and anxiety. The fragile X mental retardation-1 (FMR1) premutation is a common genetic mutation that affects ~1:150 women and is associated with psychological vulnerability. This study examined cardiac indicators...
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pub_type: 杂志文章
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更新日期:2012-05-17 00:00:00
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journal_title:Journal of neurodevelopmental disorders
pub_type: 杂志文章
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更新日期:2013-08-28 00:00:00
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journal_title:Journal of neurodevelopmental disorders
pub_type: 杂志文章
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更新日期:2012-05-18 00:00:00
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journal_title:Journal of neurodevelopmental disorders
pub_type: 杂志文章
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更新日期:2011-09-01 00:00:00
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journal_title:Journal of neurodevelopmental disorders
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abstract:BACKGROUND:One of the most common genetic variants associated with autism spectrum disorder (ASD) are duplications of chromosome 15q11.2-q13.1 (Dup15q syndrome). To identify distinctive developmental and behavioral features in Dup15q syndrome, we examined the social communication, adaptive, and cognitive skills in clin...
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更新日期:2011-12-01 00:00:00
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pub_type: 杂志文章
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更新日期:2010-09-01 00:00:00
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更新日期:2017-04-05 00:00:00
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pub_type: 杂志文章
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