Hyperekplexia : Adaptative Skills and Neurodevelopmental Trajectory

Launched by HOSPICES CIVILS DE LYON · Dec 7, 2022

Keywords

ClinConnect Summary

This clinical trial is studying a rare condition called hereditary hyperekplexia, which affects how the brain controls muscle movement and can cause stiffness and strong reactions to unexpected noises or touch. These symptoms often start shortly after birth and can sometimes lead to serious complications, like breathing problems. The researchers want to learn more about how people with this condition develop over time, how they respond to treatment with a medication called clonazepam, and how their abilities to adapt to everyday situations change.

To participate in this trial, children older than 2 years and adults who have been diagnosed with hyperekplexia may be eligible. Key signs of this condition include muscle stiffness and exaggerated startle responses. Participants will fill out a questionnaire about their daily living skills, and the study will track their development and treatment over the years. It's important to note that individuals with other serious medical issues or certain life situations, like being pregnant or in custody, will not be able to join this study. This research could help provide insights into the best ways to support those with hyperekplexia.

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• * Clinical diagnostic criteria for hyperekplexia (see Thomas et al. BRAIN, 2013):
• • The presence of hypertonia (either hypertonia on examination, axial or segmental, or access of stiffness)
• • Exaggerated reflex startles, to auditory, tactile or visual stimuli
• • The presence of reflex bursts on percussion of the midline
• • Children \>2 years and adults
• • No opposition of one of the two parents (or legal representative) or of the adult patient
• Exclusion Criteria:
• • The presence of a cause secondary to the hyperekplexia (traumatic, autoimmune, etc.)
• • The presence of another cause for a delay in psychomotor development (other neurological pathology, serious head trauma, etc.)
• • Pregnant or breastfeeding women
• • Person deprived of liberty by judicial or administrative decision