Page 147 - Let them speak Towards a patient reported outcome measure set for

Establishing the core PRO set
Table 1. continued
Round 1 Round 2
Mosaic trisomy 9 1 1
CLTC-related disorder 1 1
SLC6A1-related disorder 1 1
Other2 6 0
Intellectual functioning1
Normal 0 0
Borderline 1 1
Mild ID3 6 4
Moderate ID3 6 5
Severe ID3 7 4
Profound ID3 1 0
Experts4 (frequency) 28 22
Profession
Patient representative 13 9
ID physician 3 3
Psychologist 3 3
Clinical geneticist 3 2
Paediatrician 3 2
Other 3 3
Country
The Netherlands 8 8
France 4 2
Italy 3 2
United Kingdom 2 2
Romania 2 2
United States 2 1
Other5 6
7 5
ID, intellectual disabilities; GID, genetic intellectual disabilities.
*None of the individuals with GID identified as a gender outside the binary categories of male or
female
1As reported by affected individuals or caregivers.
2Other diagnosis (each with only one participant in round 1): Peters plus syndrome, Cornelia
de Lange syndrome, Fragile X syndrome, Pitt-Hopkins syndrome, 22.q11.2 deletion syndrome,
Cowden syndrome, Tatton-Brown-Rahman syndrome.
3Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5) (American Psychiatric
Association and Association, 2013).
4Two experts from the expert group meeting also took part in the Delphi study as a clinician (AvE,
LM), and one of them (AvE) participated in the expert consensus meeting as a clinician.
5Other country: Hungary, Slovenia, Germany, Norway, Portugal, Belgium, Spain.
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