Résumé
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 patients. Symptoms were most frequent during the first 3 years of life, with persistence of exaggerated startle reflex and falls. One‐quarter of the patients discontinued clonazepam. A genetic variant was found in 85% of patients, involving one of the three main genes GLRA1 , SLC6A5 , or GLRB . Conclusions Our findings highlight preserved adaptive abilities, frequent neurodevelopmental disorders and long‐term pharmacodependence.