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Peer-reviewedCC BY-NC-ND 4.0Neurology: Genetics

Caregiver-Reported Signs and Symptoms of Autonomic Dysfunction in Koolen-de Vries Syndrome

  • Ahmed N. Sahly1,2
  • Emmanouil Rampakakis3,4
  • Kenneth A. Myers1,5,6
6 affiliations
  1. 1Division of Neurology, Department of Pediatrics, Montreal Children's Hospital, McGill University Health Centre, Quebec, Canada
  2. 2Department of Neurosciences, King Faisal Specialist Hospital & Research Centre, Jeddah, Saudi Arabia
  3. 3Medical Affairs, JSS Medical Research, Montreal, Québec, Canada
  4. 4Department of Pediatrics, Montreal Children's Hospital, McGill University, Quebec, Canada
  5. 5Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada; and
  6. 6Department of Neurology and Neurosurgery, Montreal Children's Hospital, McGill University Health Centre, Quebec, Canada .
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Abstract

Objective: To evaluate whether autonomic signs and symptoms are overrepresented in people with Koolen-de Vries syndrome (KdVS).

Methods: In this observational study, individuals with KdVS and their caregivers were recruited at an international advocacy summit and through social media invitations facilitated by the KdVS Foundation. Caregivers of people with KdVS completed the Pediatric Autonomic Symptoms Scale (PASS) questionnaire and were invited to provide anecdotal reports of their experiences with possible autonomic dysfunction. Data were compared with previously published cohorts of healthy controls, individuals with familial dysautonomia (FD), autism spectrum disorder (ASD), or nonspecific neurodevelopmental disorders (NDD).

Results: Thirty-seven individuals with KdVS participated. PASS scores of individuals with KdVS were significantly higher than healthy controls (p < 0.0001) and individuals with ASD (p < 0.0005), similar to those with FD, and not significantly different from those with nonspecific NDDs. In at least 8 cases, the autonomic signs and symptoms required emergency department visits or hospitalization.

Discussion: Autonomic signs and symptoms are relatively common in individuals with KdVS and can significantly affect quality of life and function.

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Cite

BibTeXRIS
BibTeX
@article{sahly2026caregiverreported,
  title = {{Caregiver-Reported Signs and Symptoms of Autonomic Dysfunction in Koolen-de Vries Syndrome}},
  author = {Ahmed N. Sahly and Emmanouil Rampakakis and Kenneth A. Myers},
  journal = {Neurology: Genetics},
  year = {2026},
  month = nov,
  doi = {10.1212/nxg.0000000000200457},
  url = {https://doi.org/10.1212/nxg.0000000000200457},
  note = {CC BY-NC-ND 4.0},
}
RIS
TY  - JOUR
TI  - Caregiver-Reported Signs and Symptoms of Autonomic Dysfunction in Koolen-de Vries Syndrome
AU  - Ahmed N. Sahly
AU  - Emmanouil Rampakakis
AU  - Kenneth A. Myers
PY  - 2026
DA  - 2026/11/02
JO  - Neurology: Genetics
DO  - 10.1212/nxg.0000000000200457
UR  - https://doi.org/10.1212/nxg.0000000000200457
AB  - Objective: To evaluate whether autonomic signs and symptoms are overrepresented in people with Koolen-de Vries syndrome (KdVS).  Methods: In this observational study, individuals with KdVS and their caregivers were recruited at an international advocacy summit and through social media invitations facilitated by the KdVS Foundation. Caregivers of people with KdVS completed the Pediatric Autonomic Symptoms Scale (PASS) questionnaire and were invited to provide anecdotal reports of their experiences with possible autonomic dysfunction. Data were compared with previously published cohorts of healthy controls, individuals with familial dysautonomia (FD), autism spectrum disorder (ASD), or nonspecific neurodevelopmental disorders (NDD).  Results: Thirty-seven individuals with KdVS participated. PASS scores of individuals with KdVS were significantly higher than healthy controls (p < 0.0001) and individuals with ASD (p < 0.0005), similar to those with FD, and not significantly different from those with nonspecific NDDs. In at least 8 cases, the autonomic signs and symptoms required emergency department visits or hospitalization.  Discussion: Autonomic signs and symptoms are relatively common in individuals with KdVS and can significantly affect quality of life and function.
SN  - 2376-7839
ER  -