Genetic Syndromes Associated with Intellectual Disabilities

Abbeduto, Leonard; Thurman, Angela John; Bullard, Lauren; Nelson, Sarah; McDuffie, Andrea

doi:10.1007/978-3-030-14895-9_13

Cited by 5 publications

(5 citation statements)

References 289 publications

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“…These results are commensurate with single time point studies of adolescents with FXS that found deficits in syntax relative to their cognitive-matched TD peers (Finestack & Abbeduto, 2010;Kover et al, 2012). Low skills in grammar and syntax may impair adolescents' abilities to socially communicate and participate in academic language tasks (Abbeduto et al, 2019;Haebig et al, 2016). McDuffie et al (2018) found that adolescents who participated in an intervention aimed at improving lexical diversity and grammatical complexity increased their lexical diversity; however, grammatical complexity did not change.…”

Section: Discussionsupporting

confidence: 72%

Language Development From Early Childhood to Adolescence in Youths With Fragile X Syndrome

Brady

Fleming

Bredin-Oja

et al. 2020

J Speech Lang Hear Res

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Purpose The aim of this study was to investigate language growth in individuals with fragile X syndrome (FXS) from early childhood to adolescence and the influence of maternal responsivity on language growth. Method We conducted a longitudinal analysis of language development in 55 youths (44 males, 11 females) with FXS. Data collection spanned the ages of 11–216 months. We measured expressive and receptive vocabulary with standardized tests. The number of different words and mean length of utterance were obtained from language sample analyses of mother–child interactions. We also measured maternal comments (responsivity indicator) produced during the language samples and child nonverbal IQ. Results Growth models indicated that rates of number of different words and receptive vocabulary were related to maternal commenting. Mean length of utterance did not change significantly over time. Expressive vocabulary measured with a standardized test grew, but the growth was not related to maternal commenting. Nonverbal IQ was related to all language outcomes at age of 10 years and to changes over time in vocabulary. Visual analysis indicated that the highest scores on standardized tests were produced by girls; however, measures derived from language sample analyses appeared similar for boys and girls. Language models for boys only were similar to the total sample models with lower scores at age of 10 years for some outcomes. Conclusion Results of persistent language impairments for most youths with FXS suggest the need for continued, focused interventions aimed at improved language productions in addition to a responsive environment. Supplemental Material https://doi.org/10.23641/asha.13022825

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Section: Discussionsupporting

confidence: 72%

Language Development From Early Childhood to Adolescence in Youths With Fragile X Syndrome

Brady

Fleming

Bredin-Oja

et al. 2020

J Speech Lang Hear Res

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“…Importantly, there are also notable phenotypic differences outside the area of language that have the potential to influence measurement outcomes. For example, notable differences are observed between the DS and FXS phenotypes in terms of medical comorbidities, the co-occurrence of challenging behaviors and psychiatric conditions, and their associated socio-emotional phenotypes [24,25]. Finally, the considerable heterogeneity observed among individuals with DS is also likely to influence measurement outcomes and, therefore, warrants specific attention [26].…”

Section: Els In Down Syndromementioning

confidence: 99%

Spoken language outcome measures for treatment studies in Down syndrome: feasibility, practice effects, test-retest reliability, and construct validity of variables generated from expressive language sampling

Thurman

Edgin

Sherman

et al. 2021

J Neurodevelop Disord

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Background The purpose of this study was to evaluate expressive language sampling (ELS) as a procedure for generating spoken language outcome measures for treatment research in Down syndrome (DS). We addressed (a) feasibility, (b) practice effects across two short-term administrations, (c) test-retest reliability across two short-term administrations, (d) convergent and discriminant construct validity, and (e) considered comparisons across the conversation and narration contexts. Method Participants were 107 individuals with DS between 6 and 23 years of age who presented with intellectual disability (IQ < 70). The utility of ELS procedures designed to collect samples of spoken language in conversation and narration were evaluated separately. Variables of talkativeness, vocabulary, syntax, utterance planning, and articulation quality, derived from transcripts segmented into C-units (i.e., an independent clause and its modifiers), were considered. A 4-week interval was used to assess practice effects and test-retest reliability. Standardized direct assessments and informant report measures were collected to evaluate construct validity of the ELS variables. Results Low rates of noncompliance were observed; youth who were under 12 years of age, had phrase-level speech or less, and had a 4-year-old developmental level or less were at particular risk for experiencing difficulty completing the ELS procedures. Minimal practice effects and strong test-retest reliability across the 4-week test-retest interval was observed. The vocabulary, syntax, and speech intelligibility variables demonstrated strong convergent and discriminant validity. Although significant correlations were found between the variables derived from both the conversation and narration contexts, some differences were noted. Conclusion The ELS procedures considered were feasible and yielded variables with adequate psychometric properties for most individuals with DS between 6 and 23 years old. That said, studies of outcome measures appropriate for individuals with DS with more limited spoken language skills are needed. Context differences were observed in ELS variables suggest that comprehensive evaluation of expressive language is likely best obtained when utilizing both contexts.

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“…The estimates of more than 1,000 different etiologies (Hodapp & Burack 2006) highlight the genetic and phenotypic heterogeneity of persons with ID (e.g., Abbeduto et al 2019, Vissers et al 2016). In the etiological group referred to as "developmental" by Down, "idiocy by deprivation" by Ireland, and more recently as familial, ID is the defining feature.…”

Section: Heterogeneity Of Persons Diagnosed With Idmentioning

confidence: 99%

Developmental Perspectives on the Study of Persons with Intellectual Disability

Burack

Evans

Russo

et al. 2021

Annu. Rev. Clin. Psychol.

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Developmental approaches provide inclusive, universal, and methodologically rigorous frameworks for studying persons with intellectual disability (ID). This is an exceptionally heterogenous group with regard to etiology, genotype, and phenotype that simply shares the traditional diagnostic criteria, typically a score of two standard deviations below the population mean of 100 on standardized IQ tests and deficits in adaptive behavior. We trace the foundational, conceptual, and methodological roots of developmental approaches and highlight ways that these and more recent iterations continue to be central to advances in the increasingly nuanced study of persons with ID. This work is premised on the consideration of specific etiological and subetiological groups across and between different domains of functioning within the context of familial and complex environments throughout the life span. We highlight the potential contributions of advances in behavioral methodologies, genomics, and neuroscience when considered within universal and hierarchic frameworks based on development. Expected final online publication date for the Annual Review of Clinical Psychology, Volume 17 is May 2021. Please see http://www.annualreviews.org/page/journal/pubdates for revised estimates.

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Genetic Syndromes Associated with Intellectual Disabilities

Cited by 5 publications

References 289 publications

Language Development From Early Childhood to Adolescence in Youths With Fragile X Syndrome

Language Development From Early Childhood to Adolescence in Youths With Fragile X Syndrome

Spoken language outcome measures for treatment studies in Down syndrome: feasibility, practice effects, test-retest reliability, and construct validity of variables generated from expressive language sampling

Developmental Perspectives on the Study of Persons with Intellectual Disability

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