WHAT'S KNOWN ON THIS SUBJECT: To date, studies of adaptive behavior in fragile X syndrome have focused on particular age points, either longitudinally or cross-sectionally across a broad age spectrum. Studies have shown variable patterns in adaptive behavior among people with fragile X syndrome. WHAT THIS STUDY ADDS:This study fills a critical gap in knowledge about the profile of adaptive behavior across childhood, adolescence, and young adulthood in fragile X syndrome. This study is the first to incorporate longitudinal data from an age-matched typically developing group. abstract OBJECTIVE: To examine longitudinally the adaptive behavior patterns in fragile X syndrome.METHOD: Caregivers of 275 children and adolescents with fragile X syndrome and 225 typically developing children and adolescents (2-18 years) were interviewed with the Vineland Adaptive Behavior Scales every 2 to 4 years as part of a prospective longitudinal study. RESULTS:Standard scores of adaptive behavior in people with fragile X syndrome are marked by a significant decline over time in all domains for males and in communication for females. Socialization skills are a relative strength as compared with the other domains for males with fragile X syndrome. Females with fragile X syndrome did not show a discernible pattern of developmental strengths and weaknesses.CONCLUSIONS: This is the first large-scale longitudinal study to show that the acquisition of adaptive behavior slows as individuals with fragile X syndrome age. It is imperative to ensure that assessments of adaptive behavior skills are part of intervention programs focusing on childhood and adolescence in this condition. Pediatrics 2014;134:315-324 AUTHORS:

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Fragile X syndrome (FXS), due to mutations of the FMR1 gene, is the most common known inherited cause of developmental disability as well as the most common single-gene risk factor for autism. Our goal was to examine variation in brain structure in FXS with topological data analysis (TDA), and to assess how such variation is associated with measures of IQ and autism-related behaviors. To this end, we analyzed imaging and behavioral data from young boys (n=52; aged 1.57-4.15 years) diagnosed with FXS. Application of topological methods to structural MRI data revealed two large subgroups within the study population. Comparison of these subgroups showed significant between-subgroup neuroanatomical differences similar to those previously reported to distinguish children with FXS from typically developing controls (e.g., enlarged caudate). In addition to neuroanatomy, the groups showed significant differences in IQ and autism severity scores. These results suggest that despite arising from a single gene mutation, fragile X syndrome may encompass two biologically and clinically separable phenotypes. In addition, these findings underscore the potential of TDA as a powerful tool in the search for biological phenotypes of neuropsychiatric disorders.

Scientific Abstract Individuals with autism spectrum disorders (ASD) are impaired in understanding the emotional undertones of speech, many of which are communicated through prosody. Musical performance also employs a form of prosody to communicate emotion, and the goal of this study was to examine the ability of adolescents with ASD to understand musical emotion. We designed an experiment in which each musical stimulus served as its own control while we varied the emotional expressivity by manipulating timing and amplitude variation. We asked children and adolescents with ASD and matched controls as well as individuals with Williams syndrome to rate how emotional these excerpts sounded. Results show that children and adolescents with ASD are impaired relative to matched controls and individuals with Williams syndrome at judging the difference in emotionality among the expressivity levels. Implications for theories of emotion in autism are discussed in light of these findings.

High-functioning adolescents with ASD and matched controls were presented with animations that depicted varying levels of social interaction and were either accompanied by music or silent. Participants described the events of the animation, and we scored responses for intentionality, appropriateness, and length of description. Adolescents with ASD were less likely to make social attributions, especially for those animations with the most complex social interactions. When stimuli were accompanied by music, both groups were equally impaired in appropriateness and intentionality. We conclude that adolescents with ASD perceive and integrate musical soundtracks with visual displays equivalent to typically developing individuals.