Stephanie L Santoro, Sheila Cannon, George Capone, Cathy Franklin, Sarah J Hart, Victoria Hobensack, Priya S Kishnani, Eric A Macklin, Kandamurugu Manickam, Andrew McCormick, Patricia Nash, Nicolas M Oreskovic, Vasiliki Patsiogiannis, Katherine Steingass, Amy Torres, Diletta Valentini, Kishore Vellody, Brian G Skotko
PURPOSE: An entity of regression in Down syndrome (DS) exists that affects adolescents and young adults and differs from autism spectrum disorder and Alzheimer disease. METHODS: Since 2017, an international consortium of DS clinics assembled a database of patients with unexplained regression and age- and sex-matched controls. Standardized data on clinical symptoms and tiered medical evaluations were collected. Elements of the proposed definition of unexplained regression in DS were analyzed by paired comparisons between regression cases and matched controls...
April 2020: Genetics in Medicine: Official Journal of the American College of Medical Genetics