A Survey on the Current Status of Joubert Syndrome and Related Disorders Conducted Through a Patient and Family Group in Japan.

Introduction　 Joubert syndrome and related disorders (JSRD) are rare and intractable diseases characterized by delayed psychomotor development, hypotonia and/or ataxia, and abnormal respiratory and eye movements. The Patient and Family Advocacy Group for Joubert Syndrome and Related Disorders in Japan was established in 2016. Since its inception, meetings for patients and families have been held approximately once a year. Methods An advocacy group meeting was held at our facility, consisting of a medical lecture and an open forum for information exchange among patients and families. A post-meeting questionnaire was administered to assess the needs and current circumstances of patients and families. Results Many patients were enrolled in or had attended special needs schools or received individualized educational accommodations. All patients had previously received rehabilitation therapy, with a significant proportion continuing therapy at the time of the survey. Families indicated a strong need for information on a range of topics, including medical care, social welfare, and education. Conclusions Addressing the ongoing needs of patients and families with rare and intractable diseases in the areas of healthcare, research, and support system remains a continuing challenge.