Developing a utility index for the Aberrant Behavior Checklist (ABC-C) for fragile X syndrome

Purpose This study aimed to develop a utility index (the ABC-UI) from the Aberrant Behavior Checklist-Community (ABC-C), for use in quantifying the benefit of emerging treatments for fragile X syndrome (FXS). Methods The ABC-C is a proxy-completed assessment of behaviour and is a widely used measure in FXS. A subset of ABC-C items across seven dimensions was identified to include in health state descriptions. This item reduction process was based on item performance, factor analysis and Rasch analysis performed on an observational study dataset, and consultation with five clinical experts and a methodological expert. Dimensions were combined into health states using an orthogonal design and valued using time trade-off (TTO), with lead-time TTO methods used where TTO indicated a state valued as worse than dead. Preference weights were estimated using mean, individual level, ordinary least squares and random-effects maximum likelihood estimation [RE (MLE)] regression models. Results A representative sample of the UK general public (n = 349; mean age 35.8 years, 58.2 % female) each valued 12 health states. Mean observed values ranged from 0.92 to 0.16 for best to worst health states. The RE (MLE) model performed best based on number of significant coefficients and mean absolute error of 0.018. Mean utilities predicted by the model covered a similar range to that observed. Conclusions The ABC-UI estimates a wide range of utilities from patient-level FXS ABC-C data, allowing estimation of FXS health-related quality of life impact for economic evaluation from an established FXS clinical trial instrument

Contributions of phonological and verbal working memory to language development in adolescents with fragile X syndrome

Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability. Although language delays are frequently observed in FXS, neither the longitudinal course of language development nor its cognitive predictors are well understood. The present study investigated whether phonological and working memory skills are predictive of growth in vocabulary and syntax in individuals with FXS during adolescence. Forty-four individuals with FXS (mean age = 12.61 years) completed assessments of phonological memory (nonword repetition and forward digit recall), verbal working memory (backward digit recall), vocabulary, syntax, and nonverbal cognition. Vocabulary and syntax skills were reassessed at a 2-year follow-up. In a series of analyses that controlled for nonverbal cognitive ability and severity of autism symptoms, the relative contributions of phonological and working memory to language change over time were investigated. These relationships were examined separately for boys and girls. In boys with FXS, phonological memory significantly predicted gains in vocabulary and syntax skills. Further, verbal working memory was uniquely associated with vocabulary gains among boys. In girls with FXS, phonological and working memory skills showed no relationship with language change across the 2-year time period. Our findings indicate that, for adolescent boys with FXS, acquisition of vocabulary and syntax may be constrained by the ability to maintain and manipulate phonological representations online. Implications for the identification and treatment of language disorders in this population are discussed. The present study is the first to identify specific cognitive mechanisms contributing to language growth over time in individuals with FXS

Linguagem narrativa e fluência na síndrome de down: uma revisão

A síndrome de Down é uma condição na qual os indivíduos apresentam comprometimento intelectual e alterações de linguagem oral. A disfluência de fala está presente tanto durante a conversa espontânea como em produções orais de narrativas direcionadas. Este estudo teve como principal objetivo revisar a literatura sobre a disfluência e a narrativa em indivíduos com a síndrome de Down, publicada entre 2002 e 2012, em bases de dados eletrônicos. Foram encontrados 17 artigos e selecionados oito, de acordo com os critérios de inclusão e exclusão. Destes, dois discorriam especificamente sobre a disfluência na síndrome de Down, e seis sobre a narrativa nesta população. A deficiência intelectual é parte do fenótipo dos indivíduos com SD e, em decorrência do comprometimento intelectual, prejuízos na aquisição e no desenvolvimento da linguagem. Estudos específicos, principalmente sobre a fluência/disfluência; e, sobre o desempenho na tarefa da narrativa, ainda são escassos e inconclusivos. A disfluência não aparece na maioria das descrições do fenótipo de linguagem dos indivíduos com esta condição, que mereceria, estudos clínicos adicionais

Investigating Word Learning in Fragile X Syndrome: A Fast-Mapping Study

Fast-mapping paradigms have not been used previously to examine the process of word learning in boys with fragile X syndrome (FXS), who are likely to have intellectual impairment, language delays, and symptoms of autism. In this study, a fast-mapping task was used to investigate associative word learning in 4- to 10-year-old boys with FXS relative to younger typically developing boys and age-matched boys with autism spectrum disorders (ASD). Task performance exceeded chance levels for all groups; however, boys with FXS outperformed boys with ASD, despite having lower levels of nonverbal cognition. Memory task demands significantly impacted performance only for boys with typical development. For boys with FXS or ASD, fast-mapping uniquely accounted for small but significant variance in concurrent levels of vocabulary comprehension as did chronological age and nonverbal IQ, but not autism severity. Understanding the fast-mapping process has implications for designing interventions to support word learning and language acquisition in these populations