Concurrent Associations between Expressive Language Ability and Independence in Adolescents and Adults with Fragile X Syndrome.

BACKGROUND: Few individuals with fragile X syndrome (FXS) successfully meet adult normative expectations in education, employment, peer relations, and habitation, although there is within-syndrome variability in this regard. The primary goal of this study was to determine whether expressive language skills contribute to the capacity for independent functioning in adulthood even after controlling for nonverbal cognitive ability. METHODS: Participants were 18- to 23-year-olds with FXS. Expressive language was assessed using the psychometrically validated Expressive Language Sampling (ELS) conversation and narration procedures. The language produced was transcribed and analyzed to yield measures of expressive vocabulary, syntax, and intelligibility. Parents concurrently completed questionnaires on the independent functioning of the participants with FXS. RESULTS: All three ELS measures were significantly corelated with multiple measures of independence. The magnitudes of the correlations were reduced when nonverbal IQ was controlled through partial correlation. Nonetheless, many of the partial correlations were medium to large and several were statistically significant. CONCLUSIONS: Expressive language skills appear to contribute uniquely to the capacity for independence, although longitudinal data are needed to evaluate the possibility of a bidirectional relationship between these domains. Thus, language intervention may be a prerequisite for preparing youth with FXS for an independent adult life.

Responsive Parenting as a Target for Telehealth Language Interventions in Fragile X Syndrome: Implications for Scalability and Best Practices.

This review highlights the ways in which telehealth procedures can be implemented to help bridge the research-to-practice gap in supporting developmental outcomes for youth with fragile X syndrome (FXS). We review how the literature to date has informed potential treatment targets in the areas of speech and language development with a focus on understanding and supporting the dyadic relationship between the child and their biological mother, who is also impacted biologically. Notably, parental responsivity is an area that is strongly related to child language outcomes, both early and into adolescence, and thus, it is an important treatment target for subsequent interventions. To date, several parent-implemented interventions have been done in FXS across a broad age range (2-17-year-olds) all showing support not only that parents are successful in learning responsive strategies but also that there are subsequent impacts to child language development. Moreover, these interventions were successfully implemented at a distance through telehealth procedures including video teleconferencing and shared recordings of parent-child interactions. This review also addresses potential moderators of treatment gains. Implications for scaling such interventions in the future as well as best practices for incorporating telehealth procedures into future research and intervention programs are also discussed.

Exploring the feasibility of collecting multimodal multiperson assessment data via distance in families affected by fragile X syndrome.

INTRODUCTION: Telehealth is an important tool in helping to provide services for hard-to-reach populations. One population that might benefit from telehealth are individuals with fragile X syndrome (FXS). Although FXS is the leading inherited cause of intellectual disability, it is nonetheless a low incidence disorder. Individuals with FXS and their families are involved in research studies, clinical trials and receive interventions - many of which are only offered in a few locations in the United States and thus, not easily accessible to many families. The current project explored the feasibility of using telehealth procedures to collect multimodal behavioural and psychological assessment data from these families. METHODS: Participation in the current study involved online surveys, measures of physiological indices of stress, live interviews and observations of mother-child interactions conducted via distance videoconferencing using the family's own technology when possible. Across all modes of data collection, we obtained information regarding the feasibility of participating entirely via distance by documenting missing data as well as each mother's overall impression of participating via distance. RESULTS: Our telehealth procedures were successfully implemented across a wide range of technology platforms with limited difficulty, and we documented little missing data due to technology-related challenges. Perhaps most importantly, however, our sample of mothers reported high satisfaction with participating via distance. DISCUSSION: These findings suggest that a wide range of services and types of assessments may be amenable to telehealth procedures. Further, the findings have immediate applications as the field shifts towards telehealth due to the coronavirus disease 2019 (COVID-19) pandemic.