Scientific Article 🇬🇧 Directly KS related

Recognizing and Treating Catatonia in Kleefstra Syndrome

person Miriam Vail, Jonathan Newgren, Isabelle Bindseil, Danielle Stutzman, Elizabeth Margolis

calendar_today Sep 30, 2025

Kleefstra syndrome is an extremely rare genetic disorder linked to EHMT1 mutations and multiple psychiatric or behavioral issues, including catatonia. This case reports a 17-year-old male with Kleefstra syndrome whose catatonia was successfully treated with scheduled lorazepam, highlighting the need for better recognition and treatment.