Dataset Information

Patterns of biomarkers for three phenotype profiles of persisting specific learning disabilities during middle childhood and early adolescence: A preliminary study.

ABSTRACT: Students without specific learning disabilities [SLDs] [n=18] and with one of three persisting SLDs in written language despite early and current specialized instruction-Dysgraphia [n=21], Dyslexia [n=40], or oral and written language learning disability OWL LD [n=14]- in grades 4 to 9 [N=56 boys, 38 girls] completed behavioral phenotyping assessment and gave a small blood or saliva sample. Molecular analyses informed by current cross-site research on gene candidates for learning disabilities identified associations between molecular genetic markers and the two defining behavioral phenotypes for each SLDs-WL; dysgraphia [impaired writing alphabet from memory for rs3743204 and sentence copying in best handwriting for rs79382 both in DYX1C1], dyslexia [impaired silent word reading/decoding rate for rs4535189 in DCDC2 and impaired spelling/encoding for rs374205 in DYX1C1], and OWL LD [impaired aural syntax comprehension for rs807701 and oral syntax construction for rs807701 both in DYX1C1]. Implications of these identified associations between molecular markers for alleles for different sites within two gene candidates [and mostly one] and hallmark phenotypes are discussed for translation science [application to practice] and neuroimaging that has identified contrasting brain bases for each of the three SLDs.

SUBMITTER: Abbott RD

PROVIDER: S-EPMC6407889 | biostudies-literature | 2017 Dec

REPOSITORIES: biostudies-literature

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Patterns of biomarkers for three phenotype profiles of persisting specific learning disabilities during middle childhood and early adolescence: A preliminary study.

Abbott Robert D RD Raskind Wendy H WH Matsushita Mark M Price Nathan D ND Richards Todd T Berninger Virginia W VW

Biomarkers and genes 20170619 1

Students without specific learning disabilities [SLDs] [n=18] and with one of three persisting SLDs in written language despite early and current specialized instruction-Dysgraphia [n=21], Dyslexia [n=40], or oral and written language learning disability OWL LD [n=14]- in grades 4 to 9 [N=56 boys, 38 girls] completed behavioral phenotyping assessment and gave a small blood or saliva sample. Molecular analyses informed by current cross-site research on gene cand ...[more]

PMID: 30854516

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Project description:Social contexts (e.g., family, friends) are important in predicting and preventing loneliness in middle childhood (MC) and adolescence; however, these social contexts were disrupted during the COVID-19 pandemic. Comparison of social context factors that may differentially contribute to loneliness at each developmental stage (MC vs. adolescence) during the COVID-19 pandemic have been overlooked. This study examined longitudinal predictors of loneliness, including social contexts and COVID-19 impact, within MC (8-12y) and adolescence (13-17y). Parents reported on demographic information, and their children completed surveys on COVID-19 impact, loneliness, and family functioning using the COVID-19 Exposure and Family Impact Survey (CEFIS), the NIH Toolbox Loneliness (Ages 8-17) measure, and the PROMIS Family Relationships Short Form 4a measure, respectively. Regression models examined time one (T1; May-June 2020) predictors of time two (T2; November 2020-January 2021) MC child (n=92, Mage=10.03) and adolescent (n=56, Mage=14.66) loneliness. For the MC child model, significant predictors of higher loneliness included worse family functioning as well as higher COVID-19 impact and lower family income. On the other hand, higher adolescent loneliness was significantly predicted by not having married/partnered parents and was marginally significantly predicted by higher COVID-19 impact. The regression model with the full sample and interaction terms revealed no significant interactions, but that lower family functioning and higher COVID-19 impact were significant predictors of higher loneliness. Lower family income and lower in-person communication were marginally significant predictors of higher loneliness in the combined interaction model. Lastly, further exploratory mediation analyses displayed that family functioning significantly mediated the relationship between COVID-19 impact and T2 loneliness only for MC children and the full sample. Results support future interventions focused on optimizing family functioning to help mitigate MC loneliness in the context of adversity, such as a global pandemic.

Project description:BackgroundRecent 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.MethodsWe 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.ResultsFeasibility 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.ConclusionsThe 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.

Dataset Information

Patterns of biomarkers for three phenotype profiles of persisting specific learning disabilities during middle childhood and early adolescence: A preliminary study.

Publications

Patterns of biomarkers for three phenotype profiles of persisting specific learning disabilities during middle childhood and early adolescence: A preliminary study.

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