STARDEV Study: Neurodevelopmental Trajectory and Long-Term Outcomes of Patients with Startle Disease/Hyperekplexia.

ABSTRACT:

Background

Although initial clinical presentation of hyperekplexia/startle disease is well known, data regarding long-term clinical outcomes is lacking.

Objectives

We provide a long-term evaluation from clinical and pharmacological perspectives, focusing on neurodevelopmental trajectory.

Methods

Twenty-eight patients from nine French hospitals were included based on clinical diagnosis criteria. Adaptive abilities were assessed using VABS-II.

Results

VABS-II showed preserved adaptive abilities, except in motor skills. Early development was marked by neurodevelopmental delay in 53% of patients, with 57% developing neurodevelopmental disorders, primarily specific learning disorders. Intellectual disability and/or autism spectrum disorder were present in five patie

SUBMITTER: Pina D 

PROVIDER: S-EPMC12481448 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature