title: Caretaker Quality of Life in Rett Syndrome: Disorder Features and Psychological Predictors.
abstract: Rett syndrome is a severe neurodevelopmental disorder affecting approximately one in 10,000 female births. The clinical features of Rett syndrome are known to impact both patients' and caretakers' quality of life in Rett syndrome. We hypothesized that more severe clinical features would negatively impact caretaker physical quality of life but would positively impact caretaker mental quality of life.
  
  
  
  Participants were individuals enrolled in the Rett Natural History Study with a diagnosis of classic Rett syndrome. Demographic data, clinical disease features, caretaker quality of life, and measures of family function were assessed during clinic visits. The Optum SF-36v2 Health Survey was used to assess caretaker physical and mental quality of life (higher scores indicate better quality of life). Descriptive, univariate, and multivariate analyses were used to characterize relationships between child and caretaker characteristics and caretaker quality of life.
  
  
  
  Caretaker physical component scores (PCS) were higher than mental component scores (MCS): 52.8 (9.7) vs 44.5 (12.1). No differences were demonstrated 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.
  
  
  
  Caretaker quality of life in Rett syndrome is similar to that for caretakers in other chronic diseases. Disease characteristics significantly impact quality of life, and feeding difficulties may represent an important clinical target for improving both child and caretaker quality of life. The stability of quality-of-life scores between baseline and five years adds important value.
authors.affiliation: University of Alabama at Birmingham, School of Medicine, Birmingham, Alabama.
authors.forename: John T
authors.initials: JT
authors.lastname: Killian
authors.affiliation: University of Alabama at Birmingham, Civitan International Research Center, Birmingham, Alabama.
authors.forename: Jane B
authors.initials: JB
authors.lastname: Lane
authors.affiliation: Health Informatics Institute, Department of Pediatrics, Morsani College of Medicine, University of South Florida, Tampa, Florida.
authors.forename: Hye-Seung
authors.initials: HS
authors.lastname: Lee
authors.affiliation: University of Alabama at Birmingham, School of Medicine, Birmingham, Alabama.
authors.forename: James H
authors.initials: JH
authors.lastname: Pelham
authors.affiliation: Greenwood Genetic Center, Greenwood, South Carolina.
authors.forename: Steve A
authors.initials: SA
authors.lastname: Skinner
authors.affiliation: Boston Children's Hospital (Harvard), Boston, Massachusetts.
authors.forename: Walter E
authors.initials: WE
authors.lastname: Kaufmann
authors.affiliation: Baylor College of Medicine, Houston, Texas.
authors.forename: Daniel G
authors.initials: DG
authors.lastname: Glaze
authors.affiliation: University of California San Diego, San Diego, California.
authors.forename: Jeffrey L
authors.initials: JL
authors.lastname: Neul
authors.affiliation: University of Alabama at Birmingham, Civitan International Research Center, Birmingham, Alabama. Electronic address: apercy@uab.edu.
authors.forename: Alan K
authors.initials: AK
authors.lastname: Percy
mesh_terms: D000293:Adolescent; D000328:Adult; D017028:Caregivers / Q000523:psychology*; D002648:Child; D002675:Child, Preschool; D002908:Chronic Disease; D005190:Family / Q000523:psychology; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D016014:Linear Models; D008297:Male; D008875:Middle Aged; D015999:Multivariate Analysis; D011446:Prospective Studies; D011788:Quality of Life; D015518:Rett Syndrome / Q000503:physiopathology / Q000628:therapy*; D012720:Severity of Illness Index
keywords: ANCOVA; MECP2; Rett syndrome; SF-36v2; general linear model