Page 136 - Let them speak Towards a patient reported outcome measure set for

Chapter 6
Background
Rare genetic neurodevelopmental disorders and/or intellectual disabilities
(ID), collectively called genetic intellectual disabilities (GID), affect about
1-3% of the population (Castrén et al. 2012; Maulik et al. 2011). These
conditions, such as fragile X syndrome, tuberous sclerosis complex (TSC),
Rett syndrome, as well as ID without known aetiology, are often characterized
by complex and severe physical and neuropsychiatric manifestations
such as motor impairments, epilepsy, autism spectrum disorders, and
behavioural challenges (Arron et al. 2011; Boot et al. 2015; Lubbers et al.
2022; Robertson et al. 2015). These manifestations can substantially affect
daily life, limiting participation in activities and social relationships (Borland
et al. 2020; DaWalt et al. 2019).
Care for individuals with GID is complex. Individuals often require intensive,
long-term, and multidisciplinary care, which burdens affected individuals,
parents, and other caregivers (Dawson et al. 2016; Fitzgerald and Gallagher,
2022). Despite these challenges, personalized care for GID is becoming
more available as the awareness of affected individuals’ complex needs
grows (Huisman et al. 2024). Research involving individuals with GID
is challenging as well due to their rarity, great phenotypic variability, and
cognitive impairments (Feldman et al. 2014; Mishra and Venkatesh, 2024).
These factors hinder robust study design, resulting in limited research
and contributing to health disparities in this already vulnerable population
group. However, technological advances increasingly allow identification of
aetiological diagnoses, creating new opportunities for targeted interventions
for specific GIDs (van Eeghen et al. 2022). These targeted interventions,
such as gene therapy in Rett syndrome and mTOR inhibitors in TSC (Luo
et al. 2022; Palmieri et al. 2023), are increasingly being applied and may
offer hope for individuals with conditions that were previously untreatable
(Henderson et al. 2024).
To guide and improve care and research for individuals with GID, it is
important to identify and measure relevant patient reported outcome
(PROs). PROs, such as pain or participation, directly capture the patient’s
perspective on their health (FDA, 2006). By first identifying the most
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