Lichen sclerosus is an uncommon, poorly recognized disease in girls and adolescents and is likely to have a chronic course requiring long-term follow-up and treatment. There needs to be increased awareness among providers of this disease as a cause of vulvar itching. Because of the lack of knowledge of the natural course and treatment outcomes, prospective, multicenter studies are needed.

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Study Objective To characterize menstrual health issues and their effect in young women with Angelman syndrome (AS). Our secondary objective was to compare them with young women with autism spectrum disorders (ASDs). Design Cross-sectional convenience sample survey. Setting An institutional review board–approved Web-based survey of young female members of the Angelman Syndrome Foundation. Participants Caregivers of young women with AS, aged 12–25 years. Interventions None. Main Outcome Measures Symptom characterization and effect of menses on young women with AS. Results Menstrual and premenstrual symptoms were common among young women with AS, but infrequently caused problems at home or school. Less than half of the subjects used hormones to control their flow. Of those who used hormones, 75% used them continuously. Caregivers were satisfied with their method to control periods. Girls with seizures were more likely to use hormonal methods to control menses than those without seizures. Menstrual-associated morbidity in young women with ASD and AS was fairly similar, but with greater morbidity in the ASD group than in the AS group. However, girls with AS had more problems with menstrual hygiene with almost all of them requiring full assistance for managing hygiene. Conclusion In this group of young women with AS, who have moderate to severe neurodevelopmental disabilities and cannot manage their own hygiene, menstruation is not associated with significant problems. Menstrual management by hormones is used by less than half. When hormonal therapy is used, it is most commonly used continuously to suppress menses.

Background Angelman syndrome (AS) is a rare neurogenetic disorder present in approximately 1/12,000 individuals and characterized by developmental delay, cognitive impairment, motor dysfunction, seizures, gastrointestinal concerns, and abnormal electroencephalographic background. AS is caused by absent expression of the paternally imprinted gene UBE3A in the central nervous system. Disparities in the management of AS are a major problem in preparing for precision therapies and occur even in patients with access to experts and recognized clinics. AS patients receive care based on collective provider experience due to limited evidence‐based literature. We present a consensus statement and comprehensive literature review that proposes a standard of care practices for the management of AS at a critical time when therapeutics to alter the natural history of the disease are on the horizon. Methods We compiled the key recognized clinical features of AS based on consensus from a team of specialists managing patients with AS. Working groups were established to address each focus area with committees comprised of providers who manage >5 individuals. Committees developed management guidelines for their area of expertise. These were compiled into a final document to provide a framework for standardizing management. Evidence from the medical literature was also comprehensively reviewed. Results Areas covered by working groups in the consensus document include genetics, developmental medicine, psychology, general health concerns, neurology (including movement disorders), sleep, psychiatry, orthopedics, ophthalmology, communication, early intervention and therapies, and caregiver health. Working groups created frameworks, including flowcharts and tables, to help with quick access for providers. Data from the literature were incorporated to ensure providers had review of experiential versus evidence‐based care guidelines. Conclusion Standards of care in the management of AS are keys to ensure optimal care at a critical time when new disease‐modifying therapies are emerging. This document is a framework for providers of all familiarity levels.