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

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

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).

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.

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