S and full research articles published in SLEEP, the official journal of the APSS. Sleep and sleep disorder scientific findings.

Purpose: Existing research has explored the barriers and facilitators of physical activity participation for young people with disability from the perspective of young people and their families. However, little research has investigated the views of clinicians who facilitate access to physical activity programs and compared this with their child client’s perspectives. Method: Interviews were conducted with six allied health and sports development professionals associated with a programme which supports access to recreation and sporting activities. Interviews explored facilitators and barriers to physical activity experienced by their clients. Open-ended survey questions investigating barriers and facilitators of physical activity participation were also completed by 28 young people with disability aged 10–17 years who were clients of this programme. Results: The most salient facilitator of participation described by clinicians was “planning programs to promote success and inclusion.” Young people described two main facilitators; “the right people make physical activity fun!” and, similar to clinicians, “appropriate and inclusive opportunities to be active.” The most salient barriers identified by clinicians were “practical limitations” and “time constraints and priorities,” and a novel barrier raised was “whose choice?” The “lack of accessible and inclusive opportunities” was the most pertinent barrier for young people. Conclusions: Clinicians should determine both parent and young person commitment to a physical activity before enrolment. Lack of commitment can act as a barrier to physical activity and a more appropriate intervention could focus on increasing awareness of the benefits of being active, drawing on a Stages of Change based model of service delivery.

Epilepsy and Mental Retardation Limited to Females (EFMR) is an infantile onset disorder characterized by clusters of seizures. EFMR is due to mutations in the X-chromosome gene PCDH19, and is underpinned by cellular mosaicism due to X-chromosome inactivation in females or somatic mutation in males. This review characterizes the neuropsychiatric profile of this disorder and examines the association of clinical and molecular factors with neuropsychiatric outcomes. Data were extracted from 38 peer-reviewed original articles including 271 individual cases. We found that seizure onset ≤12 months was significantly associated (p = 4.127 × 10⁻⁷) with more severe intellectual disability, compared with onset >12 months. We identified two recurrent variants p.Asn340Ser and p.Tyr366Leufs*10 occurring in 25 (20 unrelated) and 30 (11 unrelated) cases, respectively. PCDH19 mutations were associated with psychiatric comorbidities in approximately 60% of females, 80% of affected mosaic males, and reported in nine hemizygous males. Hyperactive, autistic, and obsessive-compulsive features were most frequently reported. There were no genotype–phenotype associations in the individuals with recurrent variants or the group overall. Age at seizure onset can be used to provide more informative prognostic counseling.