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

Hiroshi Mano1,2

  • 1Rehabilitation Medicine, Shizuoka Children's Hospital, Shizuoka, JPN.

Cureus
|August 20, 2026
PubMed

Insights

Joubert syndrome and related disorders (JSRD) patient families need more information and support. This study highlights the ongoing challenges in healthcare, research, and social systems for rare diseases.

Area of Science:

  • Neurology
  • Genetics
  • Rare Diseases

Background:

  • Joubert syndrome and related disorders (JSRD) are rare, intractable neurological conditions.
  • Key features include developmental delays, hypotonia, ataxia, and abnormal breathing/eye movements.
  • An advocacy group in Japan was established in 2016 to support JSRD patients and families.

Purpose of the Study:

  • To assess the needs and circumstances of patients and families affected by Joubert syndrome and related disorders.
  • To understand the challenges faced by individuals with rare and intractable diseases.

Main Methods:

  • An advocacy group meeting was organized, featuring a medical lecture and an open forum.
  • A post-meeting questionnaire was used to gather data on patient and family needs and current situations.
  • The study involved patients and families associated with the Joubert Syndrome and Related Disorders in Japan advocacy group.

Main Results:

  • Many JSRD patients attend special needs schools or receive educational accommodations.
  • All surveyed patients had prior rehabilitation therapy, with many continuing it.
  • Families expressed a significant need for information regarding medical care, social welfare, and education.

Conclusions:

  • Providing comprehensive healthcare, research, and support systems for rare and intractable diseases like JSRD remains a significant challenge.
  • Ongoing efforts are crucial to address the multifaceted needs of JSRD patients and their families.
  • Improved information access and tailored support are vital for improving the quality of life for individuals with JSRD.

Keywords:
advocacy groupeducationjoubert syndromemedical carepatient and family grouprare and intractable diseasesrehabilitationsocial welfare

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