Cognitive, Environmental, and Linguistic Predictors of Syntax in Fragile X Syndrome and Down Syndrome

OBJECTIVES The purpose of this systematic literature review is to describe what is known about fragile X syndrome (FXS) and to identify research gaps. The results can be used to help inform future public health research and provide pediatricians with up-to-date information about the implications of the condition for individuals and their families. METHODS An electronic literature search was conducted, guided by a variety of key words. The search focused on 4 areas of both clinical and public health importance: (1) the full mutation phenotype, (2) developmental trajectories across the life span, (3) available interventions and treatments, and (4) impact on the family. A total of 661 articles were examined and 203 were included in the review. RESULTS The information is presented in the following categories: developmental profile (cognition, language, functional skills, and transition to adulthood), social-emotional profile (cooccurring psychiatric conditions and behavior problems), medical profile (physical features, seizures, sleep, health problems, and physiologic features), treatment and interventions (educational/behavioral, allied health services, and pharmacologic), and impact on the family (family environment and financial impact). Research gaps also are presented. CONCLUSIONS The identification and treatment of FXS remains an important public health and clinical concern. The information presented in this article provides a more robust understanding of FXS and the impact of this complex condition for pediatricians. Despite a wealth of information about the condition, much work remains to fully support affected individuals and their families.

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“…Nonverbal cognition and phonological working memory are other key factors that play a role in syntactic ability. 63 …”

Section: Resultsmentioning

confidence: 99%

Public Health Literature Review of Fragile X Syndrome

2017

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“…These measuresdistinguish language-typical from language-disordered populations (27) and evidence is accumulating that these measures can distinguish individuals with FXS from those with other neurodevelopmental disorders, such as Down syndrome (13,22,28–31). Guidelines for standardization for a number of language sampling procedures (e.g., conversation, narration) exist (32), and these procedures can be mastered with rather minimal training (26).…”

Section: Resultsmentioning

confidence: 99%

Outcome Measures for Clinical Trials in Fragile X Syndrome

Berry‐Kravis

Hessl

Abbeduto

et al. 2013

Journal of Developmental &Amp; Behavioral Pediatrics

138

130

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Objective Progress in basic neuroscience has led to identification of molecular targets for treatment in fragile X syndrome (FXS) and other neurodevelopmental disorders, however, there is a gap in translation to targeted therapies in humans. One major obstacle to the demonstration of efficacy in human trials has been the lack of generally accepted endpoints to assess improvement in function in individuals with FXS. To address this problem, the NIH convened a meeting of leading scientists and clinicians with the goal of identifying and standardizing outcome measures for use as potential endpoints in clinical trials in FXS. Methods Participants in the meeting included FXS experts, experts in the design and implementation of clinical trials and measure development, and representatives from advocacy groups, industry, and federal agencies. Results The group generated recommendations for optimal outcome measures in cognitive, behavioral, and biomarker/medical domains, including additional testing and validation of existing measures, and development of new measures in areas of need. Although no one endpoint or set of endpoints could be identified that met all criteria as an optimal measure, recommendations are presented in this report. Conclusion The report is expected to guide the selection of measures in clinical trials and lead to the use of a more consistent battery of measures across trials. Further, this will help to direct research toward gaps in the development of validated FXS-specific outcome measures, and to assist with interpretation of clinical trial data by creating templates for measurement of treatment efficacy.

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“…Consequently, future studies should examine the effect of lower intelligibility measured independently of articulatory skill. Estigarribia (2010) presented data showing approximately 60% of the variance in syntax scores in three groups (TD, FXS, and Down's syndrome) is attributable to diagnostic group, cognitive measures (including phonological working memory), and speech intelligibility, but that the remaining 40% is possibly specifically syntactic.…”

Section: Discussionmentioning

confidence: 99%

“…(Even though Roberts et al (2007a) found that intelligibility was not a significant predictor of syntactic skill in FXS.) Estigarribia (2010) presented a model including putative predictors of syntax in these populations that begins to address the important issue of within‐group variability.…”

Section: Discussionmentioning

confidence: 99%

Expressive morphosyntax in boys with Fragile X syndrome with and without autism spectrum disorder

Estigarribia

Roberts

Sideris

et al. 2010

Int J Lang Commun Disord

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Background Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability, and the most common single gene disorder associated with autism. Language impairments in this disorder are well documented, but the nature and extent of syntactic impairments are still unclear. Aims To compare the performance of boys with FXS with and without autism spectrum disorder on measures of verb (VM) and noun (NM) morphosyntax with that of typically developing boys of similar non-verbal mental ages. Methods & Procedures Conversational samples were obtained from 33 boys with FXS with autism spectrum disorder (FXS-ASD), 35 boys with FXS and no ASD (FXS-O), and 46 typically developing boys (TD). Production of verbal and nominal morphosyntax was assessed separately in these two subdomains. A hierarchical linear model compared morphosyntactic scores in all groups after adjusting for non-verbal cognition, articulatory skill, and caregiver education. The model also tested interactions between group and morphosyntactic subdomain. Outcomes & Results Boys with FXS in both groups scored lower than the TD boys on both measures. The FXS-O and the FXS-ASD groups did not differ on either composite measure. All covariates were significantly related to morphosyntactic scores. Conclusions & Implications Part of the morphosyntactic impairment in FXS may be attributable to cognitive, environmental, and speech factors. However, it is clear that boys with FXS perform at levels lower than expected from differences in these extra-linguistic factors alone, across both the verb and the noun domains. Clinical interventions should therefore seek to address specific syntactic targets.

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Cognitive, Environmental, and Linguistic Predictors of Syntax in Fragile X Syndrome and Down Syndrome

Cited by 24 publications

References 94 publications

Public Health Literature Review of Fragile X Syndrome

Public Health Literature Review of Fragile X Syndrome

Outcome Measures for Clinical Trials in Fragile X Syndrome

Expressive morphosyntax in boys with Fragile X syndrome with and without autism spectrum disorder

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