Caretaker Quality of Life in Rett Syndrome: Disorder Features and Psychological Predictors

Abstract

Objective Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting approximately one in 10,000 female births. The clinical features of RTT are known to impact both patients’ and caretakers’ quality of life (QOL) in RTT. We hypothesized that more severe clinical features would negatively impact caretaker physical QOL but would positively impact caretaker mental QOL. Methods Participants were individuals enrolled in the Rett Natural History Study with a diagnosis of classic RTT. Demographic data, clinical disease features, caretaker QOL, and measures of family function were assessed during clinic visits. The Optum™ SF-36v2® Health Survey was used to assess caretaker physical and mental QOL (higher scores indicate better QOL). Descriptive, univariate, and multivariate analyses were utilized to characterize relationships between child and caretaker characteristics and caretaker QOL. Results Caretaker physical component scores (PCS) were higher than mental component scores (MCS): 52.8 (9.7) versus 44.5 (12.1). No differences were noted between the baseline and 5-year follow-up. In univariate analyses, disease severity was associated with poorer PCS (p=0.006) and improved MCS (p=0.003). Feeding problems were associated with poorer PCS (p=0.007) and poorer MCS (p=0.018). In multivariate analyses, limitations in caretaker personal time and home conflict adversely affected PCS. Feeding problems adversely impacted MCS. Conclusions Caretaker QOL in RTT is similar to that for caretakers in other chronic diseases. Disease characteristics significantly impact QOL, and feeding difficulties may represent an important clinical target for improving both child and caretaker QOL. The stability of QOL scores between baseline and 5-years adds important value.

Quality of life of parents of mentally-ill children: a systematic review and meta-analysis

“…Another study (Benjak et al 2011) used two QOL-measures (PWI and SF-36), but the means and SD were only available for the PWI, which was subsequently considered for the meta-analysis. One study (Killian et al 2016) could not be considered for the meta-analysis since the effects had a variance of zero.…”

“…As shown in Table 3, the largest proportion of included studies focused on ASD and related disorders (n=12; Eapen et al 2014;Ji et al 2014;Niinomi et al 2016;Kuhlthau et al 2014;Benjak et al 2011;Allik et al 2006;Lee et al 2009;Suzumura 2015;Mugno et al 2007;Yamada et al 2012;Killian et al 2016;Chan & Lai 2016), followed by ADHD (n=7; Hadi et al 2013;Zare et al 2017;Xiang et al 2009;Kandemir et al 2014;Avrech Bar et al 2015;Schreyer & Hampel 2009;Lange et al 2005).…”

“…The mean age of children was mostly below ten years (14 studies; Eapen et al 2014;Ji et al 2014;Niinomi et al 2016;Kuhlthau et al 2014;Lee et al 2009;Suzumura 2015;Mugno et al 2007;Killian et al 2016;Avrech Bar et al 2015;Lange et al 2005;Naitoh et al 2012;Kilicoglu et al 2014;Egemen et al 2008;Yamada et al 2012).…”

Neurobiologically-based treatments in Rett syndrome: opportunities and challenges

“…In neurodevelopmental disorders, functioning is typically captured by adaptive behavior scales [27] or instruments measuring activities of daily living [132], both providing a more direct view of the actual capacity and level of independence of the patients. QoL has been studied at the level of individuals with RTT [133] and their caretakers [134] using the Child Health Questionnaire 50 and the Optum SF-36v2 Health Survey, respectively. Interestingly, while in children and adolescents with RTT clinical severity was directly correlated with poor physical QoL, motor function was inversely correlated with psychosocial QoL.…”

Síndrome de Rett: revisión de la literatura con primeros casos reportados en Colombia con caracterización clínica y molecular

“…Por ahora, las medidas se centran en evitar las complicaciones médicas, mantener la funcionalidad, evitar la exclusión social y mejorar la calidad de vida de la paciente y su familia (66). Se debe brindar una adecuada asesoría genética a la familia y mantener un seguimiento interdisciplinario donde se evalúen y prevengan las comorbilidades relacionadas al RTT y las mutaciones del MECP2, como los problemas cardíacos, respiratorios, dentales, gastrointestinales, psiquiátricos, neurológicos, endocrinológicos, óseos e inmunológicos (4,7,28,36,50,53,67).…”