THE IMPACT OF CARING FOR THEIR CHILDREN WITH RETT SYNDROME: A MULTI-METHOD STUDY
Author(s)
Arya Pimprikar, MSc1, Rebekah Hall, PhD1, Tracy Odigie, PhD1, Dilesh doshi, PhD2, Mirko Sikirica, PhD2, Fleur Chandler, MSc3, Andrew Lloyd, DPhil1;
1Acaster Lloyd, London, United Kingdom, 2Acadia Pharmaceuticals, San Diego, CA, USA, 3Fleur Chandler Consulting, Middlesex, United Kingdom
1Acaster Lloyd, London, United Kingdom, 2Acadia Pharmaceuticals, San Diego, CA, USA, 3Fleur Chandler Consulting, Middlesex, United Kingdom
OBJECTIVES: Rett syndrome (RTT) is a rare pediatric-onset neurodevelopmental disorder causing progressive loss of motor skills and cognitive function. This study explored the experiences and health-related quality of life (HRQL) impacts for caregivers and family members providing lifelong care and support to children/adolescents/adults with RTT.
METHODS: A multi-method study was conducted between June-August 2025 with N=37 caregivers of individuals with RTT in the UK. Participants completed (i) a cross-sectional survey including standardized instruments (e.g. EQ-5D-5L, CarerQol-7D) and de novo questions about caregiving activities, and (ii) an online semi-structured interview exploring responsibilities and impacts of caregiving. Interviews were analyzed using content analysis.
RESULTS: Participants were primarily female (95%) parents/step-parents (97%) of a child with RTT aged 4-41 years old (median=13). The mean EQ-5D-5L score of caregivers was 0.62 (SD=0.25), with 49% and 38% reporting moderate-to-severe problems with anxiety/depression and pain/discomfort, respectively. Mean CarerQoL-7D utility was 60.76 (SD=18.11) with impacts on daily activities and finances being most reported.
Caregivers described their daily lives centred around their child’s needs, comparable to having a newborn baby. Average weekly time spent on caregiving tasks was 98.9 hours.
Impacts of caregiving were described as sudden and life changing, including: restrictions to work (92%), social (92%) and daily (97%) activities which in turn contributed to strains in interpersonal relationships and finances. Only 14% of caregivers reported working full-time and 60% had stopped completely. Worsening physical health (95%) due to ongoing fatigue, sleep disturbance, and the physical demands of caregiving were also commonly reported. All participants also described experiencing negative psychological impacts such as anxiety, depression and a sense of grief for the life they once envisioned for themselves and their child.
CONCLUSIONS: This study highlights the profound life restrictions and substantial and enduring HRQL impacts on caregivers, beginning in childhood and persisting across the lifespan of an individual with RTT.
METHODS: A multi-method study was conducted between June-August 2025 with N=37 caregivers of individuals with RTT in the UK. Participants completed (i) a cross-sectional survey including standardized instruments (e.g. EQ-5D-5L, CarerQol-7D) and de novo questions about caregiving activities, and (ii) an online semi-structured interview exploring responsibilities and impacts of caregiving. Interviews were analyzed using content analysis.
RESULTS: Participants were primarily female (95%) parents/step-parents (97%) of a child with RTT aged 4-41 years old (median=13). The mean EQ-5D-5L score of caregivers was 0.62 (SD=0.25), with 49% and 38% reporting moderate-to-severe problems with anxiety/depression and pain/discomfort, respectively. Mean CarerQoL-7D utility was 60.76 (SD=18.11) with impacts on daily activities and finances being most reported.
Caregivers described their daily lives centred around their child’s needs, comparable to having a newborn baby. Average weekly time spent on caregiving tasks was 98.9 hours.
Impacts of caregiving were described as sudden and life changing, including: restrictions to work (92%), social (92%) and daily (97%) activities which in turn contributed to strains in interpersonal relationships and finances. Only 14% of caregivers reported working full-time and 60% had stopped completely. Worsening physical health (95%) due to ongoing fatigue, sleep disturbance, and the physical demands of caregiving were also commonly reported. All participants also described experiencing negative psychological impacts such as anxiety, depression and a sense of grief for the life they once envisioned for themselves and their child.
CONCLUSIONS: This study highlights the profound life restrictions and substantial and enduring HRQL impacts on caregivers, beginning in childhood and persisting across the lifespan of an individual with RTT.
Conference/Value in Health Info
2026-05, ISPOR 2026, Philadelphia, PA, USA
Value in Health, Volume 29, Issue S6
Code
PT15
Topic
Patient-Centered Research
Topic Subcategory
Patient-reported Outcomes & Quality of Life Outcomes
Disease
SDC: Neurological Disorders, SDC: Pediatrics, SDC: Rare & Orphan Diseases