Predictors, Parental Views, and Concordance Across Diagnostic Sources of Autism in Male Youth with Fragile X Syndrome: Clinical Best Estimate and Community Diagnoses

Characterising the social interaction style of autism in young adult males with fragile X syndrome

“…To be included in the present study, participants met diagnostic criteria for autism, as determined by CBE procedures (see Klusek et al . 2023 for a detailed description of procedures). Briefly, CBE diagnoses of autism were determined by a multidisciplinary team consisting of a psychologist, a speech‐language pathologist and at least one other graduate or Ph.D.‐level examiner involved in data collection.…”

“…Autism also co-occurs at high rates, with FXS representing the most common single-gene condition associated with autism (Hagerman et al 2017). Approximately 90% of males with FXS demonstrate autistic behaviours (Bailey et al 2001), and 50-75% of males with FXS meet diagnostic criteria for autism spectrum disorder (García-Nonell et al 2008;Harris et al 2008;Klusek et al 2023).…”

“…active approach and initiation but with unusual quality) manifest in persons with FXS and co-occurring autism, which could lead clinicians to overlook these autistic features as irrelevant. Indeed, in the Klusek et al (2023) study of underdiagnosis of autism in adolescents with FXS, one-third of caregivers with unidentified children [i.e. children who met rigorous clinical best estimate (CBE) criteria for autism in the research protocol but did not have an autism diagnosis from providers in the community] reported that their son was 'too social', or showed too much social interest/motivation, to meet criteria for autism.…”

Combined extended reality and reinforcement learning to promote healthcare and reduce social anxiety in fragile X syndrome: a new assessment tool and a rehabilitative strategy

“…Thus, emotional dysregulation is downstream of physiological excessive arousal, while sensory sensitivity, cognitive inflexibility, and intolerance to uncertainty are downstream of emotion dysregulation. This situation may be viewed as deleterious for the individuals' quality of life, with an increased burden on parents and caregivers, and their healthcare might be significantly hampered (Gabis et al, 2023 ; Klusek et al, 2023 ; Prior et al, 2023 ; Wall et al, 2023 ). To tackle this issue, one may envisage technology-aided interventions and/or artificial intelligence-based setups (Stasolla et al, 2017 ; Movaghar et al, 2022 ).…”