Tuberous sclerosis complex (TSC) is a genetic condition characterized by both medical and neuropsychiatric diagnoses that emerge across the lifespan. As part of a clinical trial, caregivers of children with TSC were interviewed about their experiences navigating medical, school, and social services. Semistructured interviews (N = 20) with…

Duplication of chromosome 15q11.2-q13.1 (dup15q syndrome) results in hypotonia, intellectual disability (ID), and autism symptomatology. Clinical electroencephalography has shown abnormal sleep physiology, but no studies have characterized sleep behaviors. The present study used the Children's Sleep Habits Questionnaire (CSHQ) in 42 people with…

Angelman syndrome (AS) is a neurogenetic disorder characterized by delays including a severe expressive language delay, motor concerns, ataxia, epilepsy, sleep disturbances, gastrointestinal problems, and characteristic behaviors, including a happy demeanor, hyperactivity, and excitability. The syndrome is one of the first neurodevelopmental…

Persons with rare, epilepsy-related disorders often have intellectual disability and need long-term care. Informal and formal caregivers need information in order to care for the persons in a safe way. Aims: The aims of this review were: (1) to obtain an overview of caregiver-reported information needs; and (2) to investigate if there are…

Infantile spasms (IS) is a rare epileptic disorder occurring in children under the age of one that can often lead to severe developmental delays throughout life. Though over 200 etiologies have been associated with this disorder, many cases remain unexplained. Research into the etiology of IS has implicated causes such as exposure to prenatal…