Language across the Lifespan in Fragile X Syndrome: Characteristics and Considerations for Assessment

Abstract

While it is widely acknowledged that language development is delayed for the majority of individuals with fragile X syndrome (FXS), there has been limited research into how best to assess this area. This study aimed to deepen the understanding of standardized language assessment in FXS by addressing the three following objectives: (1) Examine the feasibility and validity of widely-used, standardized assessments in participants with FXS; (2) describe linguistic and cognitive profiles for a large sample of individuals with FXS; and (3) Compare results obtained from objective testing in clinic to those obtained using caregiver report. Results indicate that previous results indicating strong correlations between cognition and language results hold true across a wide range of ages as well as across multiple assessments, with an exception in very young children. Caregiver report tended to give lower estimates of language ability than what was found using an objectively administered assessment. Appropriate assessments remain difficult to find as a significant percentage of individuals scored at floor when scaled scores were calculated. Further, a sub-group of participants were coded for behavioral response to testing demands, the majority being able to complete a standardized assessment. These results speak to the need for assessments that provide a wider range of items so individuals can both achieve a valid score and demonstrate progress in their attainment of language skills.

Language Evaluation in Developmental Language Disorder: Celf 4 vs Celf 5

“…understanding sentences (Lituma-Solis, 2019) or the pragmatic area having already appeared (Reid, 2018). Different studies have also taken CELF 5 as a general indicator of language level in other types of disorders like Fragile X Syndrome (Hoffmann et al, 2020), Cerebellar Ataxia Syndrome (Bonne et al, 2016) or difficulties with learning bilingual language (Shenoy, 2015).…”

Fragiles-X-Syndrom

“…Die geschätzte Prävalenz für das FraX liegt bei etwa 1: 6000 bei Frauen und 1: 4000 bei Männern 4 . Aufgrund seiner X-chromosomalen (rezessiven) Vererbung tritt es bei Männern häufiger als bei Frauen auf.…”

Disease-Targeted Treatment Translation in Fragile X Syndrome as a Model for Neurodevelopmental Disorders

“…(Clinical Evaluation of Language Fundamentals-5th Edition), 58 Stanford-Binet-Version 5 z-deviation scores (SB5 z-dev, see below), and the Vineland-3 (Vineland Adaptive Behavior Scales-Version 3). Multiple papers on pilot measures employed at these sites (see Table 2) have been published and longitudinal data analyses are ongoing for this detailed phenotyping project.…”

“…16 In an effort to be prepared for interventional studies and understand the trajectory of FXS in various domains over time, a subset of FORWARD sites at Rush, Denver, and Cincinnati carried out a detailed phenotyping project with collection of standardized assessments longitudinally on a cohort of about 200 FXS participants from 2015 to 2021. This has resulted in initial publications on measurement of repetitive behaviors using the Repetitive Behavior Scale–Revised (RBS-R), 59 quality of life using the PedsQL, 60 and language, cognitive and adaptive trajectories on standardized measures using the CELF-5 (Clinical Evaluation of Language Fundamentals–5th Edition), 58 Stanford-Binet–Version 5 z-deviation scores (SB5 z-dev, see below), and the Vineland-3 (Vineland Adaptive Behavior Scales–Version 3). Multiple papers on pilot measures employed at these sites (see Table 2) have been published and longitudinal data analyses are ongoing for this detailed phenotyping project.…”