Abstract
BackgroundSocial communication is a key area of difficulty in fragile X syndrome (FXS) and there are not yet adequate outcome measurement tools. Appropriate outcome measures for FXS have been identified as a key area of research interest in order to evaluate future therapeutic trials. The Brief Observation of Social Communication Change-Minimally Verbal (BOSCC-MV), an outcome measure with strong psychometrics developed for autism spectrum disorder, has promise as an outcome measure to assess social communication change with FXS participants.MethodsWe examined the BOSCC-MV via central coders in this multi-site-trial to assess its appropriateness for FXS. Eighteen minimally verbal males ages 3–12 years were enrolled and assessed on two consecutive days and 7 participants completed a third visit 6 months later. We examined test-retest reliability, inter-rater reliability, and both convergent and divergent validity with standard clinical measures including the Autism Diagnostic and Observation Schedule-2, Vineland 3, Social Responsiveness Scale, and the Aberrant Behavior Checklist.ResultsThe BOSCC-MV in FXS demonstrated strong inter-rater and test-retest reliability, comparable to previous trials in idiopathic ASD. Strong convergent validity was found with Autism Diagnostic Observation Schedule-2 and Vineland-3. Divergent validity was demonstrated between BOSCC-MV and unrelated measures.ConclusionsThe BOSCC-MV shows promise as a FXS social communication outcome measure, warranting further large-scale evaluation.
Highlights
Social communication is a key area of difficulty in fragile X syndrome (FXS) and there are not yet adequate outcome measurement tools
We examined stability and changes in the Brief Observation of Social Communication Change (BOSCC)-minimally verbal (MV) scores for the children with FXS over a 6-month period and we did not find any significant changes on the BOSCC-MV scores during this time
It is suspected that these different contexts will provide both valuable information about the impact of context as well as a more accurate assessment of social communication in the FXS population
Summary
Social communication is a key area of difficulty in fragile X syndrome (FXS) and there are not yet adequate outcome measurement tools. Fragile X syndrome (FXS) is the most common inherited, genetic cause of intellectual disability in the world [42]. This serious neurodevelopmental disorder is caused by missing or insufficient production of fragile. Key areas of impairment commonly associated with the FXS phenotype include social communication (SC) difficulties, expressive language delays, restricted and repetitive behaviors (RRBs), and increased rates of social anxiety, attention deficit. FXS is the most common single-gene cause of autism spectrum disorder (ASD), which is posited to be due to neurobiological similarities across other causes of ASD and FXS. Are many of the ASD susceptibility genes identified to date controlled by FMRP (e.g., SHANK and PAK), and abnormalities in the GABAergic signaling system have been implicated in both FXS and ASD [8]
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