Hyperekplexia : Adaptative Skills and Neurodevelopmental Trajectory

"The data collected concerns:~* Sex~* Age~* Socio-professional category of patients or parents / level of education of the parents~* Family history~* Neonatal patient data (pregnancy, childbirth)~* Clinical data (age of onset of symptoms, evolution of these symptoms over the years, psychomotor development, schooling, learning difficulties, rehabilitation)~* Therapeutic data (treatments tried, their dosage and effectiveness, changes in dosage over the years)~* Paraclinical examinations (Magnetic Resonance Imaging (MRI), scanner, Electroencephalography (EEG))~* Genetic data if available"

"This is a standardized semi structured interview that measures adaptative skills in 4 areas, in the fields of communication, socialization, daily living, and motricity (for children under 7 years). It can be used for children and adults.~Rating: 2 = yes, usually, 1 = sometimes or partly, 0 = no, never, N = not applicable (when a child is not yet of sufficient age, for example), NS = don't know. The results by domain and by sub-domain are given in raw scores which are then transformed into equivalent ages using a grid provided for this purpose."