Page 38 - Let them speak Towards a patient reported outcome measure set for

Chapter 2
Table 1. Number of clinical trials in intellectual disability of unstated etiology, genetic and
neurometabolic disorders included in this review.
Diagnosis N
Intellectual disability of unstated etiologya 143
Down syndrome 33
Fragile X syndrome 23
Prader-Willi syndrome 23
Tuberous Sclerosis Complex 17
Mucopolysaccharidosisb,c 12
Neurofibromatosis type 1 9
Rett syndrome 8
Phenylketonuriac 7
Angelman syndrome 6
22q11.2 deletion syndrome 5
Niemann-Pick disease type C 4
Fragile X premutation-associated conditions 3
Smith-Magenis syndrome 3
1p36 deletion syndrome 2
Coffin-Siris syndrome 2
Cornelia de Lange syndrome 2
Kabuki syndrome 2
Metachromatic leukodystrophy 2
Phelan-McDermid syndrome 2
Succinic semialdehyde dehydrogenase deficiency 2
Williams syndrome 2
XYY syndromec 2
Aicardi-Goutières Syndrome 1
Alpha-mannosidosis 1
Classic galactosemia 1
Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE
1
syndrome)
Cyclin-dependent kinase like-5 deficiency disorder 1
Klippel-Trenaunay syndrome 1
Leigh syndrome 1
Mitochondrial disorders 1
Pantothemate kinase-associated neurodegeneration 1
Phosphomannomutase-2 congenital disorder of glycosylation (PMM2-CDG) 1
Propionic acidemiac 1
Smith-Lemli-Opitz syndrome 1
a 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.
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