Page 120 - Demo

Chapter 5118Table 1. Number of clinical trials in intellectual disability of unstated etiology, genetic and neurometabolic disorders included in this review.Diagnosis NIntellectual disability of unstated etiology a 143Down syndrome 33Fragile X syndrome 23Prader-Willi syndrome 23Tuberous Sclerosis Complex 17Mucopolysaccharidosis b,c 12Neurofibromatosis type 1 9Rett syndrome 8Phenylketonuria c 7Angelman syndrome 622q11.2 deletion syndrome 5Niemann-Pick disease type C 4Fragile X premutation-associated conditions 3Smith-Magenis syndrome 31p36 deletion syndrome 2Coffin-Siris syndrome 2Cornelia de Lange syndrome 2Kabuki syndrome 2Metachromatic leukodystrophy 2Phelan-McDermid syndrome 2Succinic semialdehyde dehydrogenase deficiency 2Williams syndrome 2XYY syndrome c 2Aicardi-Goutières Syndrome 1Alpha-mannosidosis 1Classic galactosemia 1Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE syndrome)1Cyclin-dependent kinase like-5 deficiency disorder 1Klippel-Trenaunay syndrome 1Leigh syndrome 1Mitochondrial disorders 1Pantothemate kinase-associated neurodegeneration 1Phosphomannomutase-2 congenital disorder of glycosylation (PMM2-CDG) 1Propionic acidemia c 1Smith-Lemli-Opitz syndrome 1a One study included a participant with mucopolysaccharidosis type IV (Morquio A syndrome) which was however not considered associated with the diagnosed syndrome. b Mucopolysaccharidosis type I (n=3), type II (n=1), type IIIA (n=4), type IIIB (n=3).c Disorders that are not always associated with intellectual disability (i.e., due to advanced screening and therapies), but (some) participants included in these studies were affected with intellectual impairments.Annelieke Muller sHL.indd 118 14-11-2023 09:07