Background Rett syndrome is a genetically caused neurodevelopmental disorder associated with functional deficits and comorbidities. This study investigated relationships between genotype, functional abilities and comorbidities and quality of life in Rett syndrome. Methods The International Rett Syndrome Database, InterRett, was used as a sampling frame for this observational study. Information was collected to describe functional abilities (walking and feeding), health (Sleep Disorder Scale for Children, the Rett Syndrome Behavioural Questionnaire), parental health (12-item Short Form Health Survey) sociodemographic factors (parental employment and education) and quality of life (Quality of Life Inventory-Disability) for 210 individuals with Rett syndrome. Univariate and multivariate regressions were used to analyse the relationships between the independent variables and quality of life. Results Compared with individuals with the p.Arg270* mutation, those with the p.Arg294* mutation type had the poorest quality of life (coeff −12.81, 95% CI –23.49 to 2.12), despite this being recognised as a clinically milder genotype. Overall better walking and feeding skills and seizure parameters were more associated with better quality of life and poor sleep and behavioural difficulties with poorer quality of life. Conclusions These findings suggest that genotype, functioning and health each have implications for quality of life and should be considered when counselling families and planning clinical and support management strategies.
#2Helen Leonard(UWA: University of Western Australia)H-Index: 67
Last. Jenny Downs(UWA: University of Western Australia)H-Index: 26
view all 4 authors...
AbstractPurpose: Rett syndrome (RTT) is a rare neurodevelopmental disorder mainly affecting females and is caused by a mutation in the MECP2 gene. Recent research identified the domains of quality ...
Background Q3 conditions are progressive, metabolic, neurological or chromosomal childhood conditions without a cure. Children with these conditions face an unknown lifespan as well as unstable and uncomfortable symptoms. Clinicians and other healthcare professionals are challenged by a lack of evidence for symptom management for these conditions. Aims In this scoping review, we systematically identified and mapped the existing literature on symptom management for children with Q3 conditions. We...
#1Yuka Mori(UWA: University of Western Australia)H-Index: 4
#2Jenny Downs(UWA: University of Western Australia)H-Index: 26
Last. Helen Leonard(UWA: University of Western Australia)H-Index: 67
view all 4 authors...
Little longitudinal research has examined parental well-being in those with a child with specific genetic developmental disorder although the associated severe neurological impairments and multiple physical comorbidities likely place substantial burden of caregiving on the parent. We aimed to examine longitudinally the well-being of parents of individuals included in the Australian Rett Syndrome Database over the period from 2002 to 2011 using the Short Form 12 Health Survey. Residential remoten...
Purpose Children with intellectual disability encounter daily challenges beyond those captured in current quality of life measures. This study evaluated a new parent-report measure for children with intellectual disability, the Quality of Life Inventory-Disability (QI-Disability).
Abstract Introduction Rett syndrome (RTT) is a complex neurodevelopmental disorder with known behavioral abnormalities, both internalizing (e.g., anxiety, social withdrawal) and externalizing (e.g., aggression, self-abuse). However, a broad evaluation of behavioral abnormalities in a large cohort is lacking. Objective In this report, we describe profiles of internalizing and externalizing behaviors in individuals evaluated in the multi-center U.S. Rett Natural History Study. Methods Cross-sectio...
Last. Omar Cauli(University of Valencia)H-Index: 40
view all 3 authors...
Patients with a neurodevelopmental disorder such as Rett syndrome (RS), as well as their families, have complex needs that affect their quality of life (QoL). Therefore, both families and patients with RS must be provided with multidisciplinary health care that can identify the clinical features that most affect their QoL and mental health risks. The main objective of this paper is to provide a comprehensive overview of the QoL subdimensions of families affected by RS, including both the parents...
#1Jessica Mackay(UWA: University of Western Australia)H-Index: 3
#2Helen Leonard(UWA: University of Western Australia)H-Index: 67
Last. Jenny Downs(UWA: University of Western Australia)H-Index: 26
view all 5 authors...
AIM: Respiratory illness is a major cause of morbidity and mortality in Rett syndrome. This study investigated respiratory morbidity and relationships with age, mutation type, feeding, and walking status. METHOD: Families registered with the InterRett database (n=399) provided data on the health of their child with Rett syndrome (age 2-57y). Hospital admissions because of lower respiratory tract infection (LRTI) over a 5-year exposure period were investigated by age, mutation type, enteral feedi...
#1Kingsley Wong(UWA: University of Western Australia)H-Index: 18
#2Jenny Downs(UWA: University of Western Australia)H-Index: 26
Last. Helen Leonard(UWA: University of Western Australia)H-Index: 67
view all 9 authors...
Objectives To evaluate how age-related trends in nutritional status, physical health, and parental well-being in females with Rett syndrome may be related to gastrostomy placement and to examine the impact of the procedure on mortality. Study design We included 323 females from the Australian Rett Syndrome Study and analyzed their demographic, genetic, and child and parental health data collected from over 6 waves of follow-up questionnaire between 2000 and 2011. We used mixed-effects models to ...
#1Jessica Mackay(UWA: University of Western Australia)H-Index: 3
#2Jenny Downs(UWA: University of Western Australia)H-Index: 26
Last. Helen Leonard(UWA: University of Western Australia)H-Index: 67
view all 6 authors...
Rett syndrome is a severe neurodevelopmental disorder associated with mutations in the MECP2 gene. Irregular breathing patterns and abdominal bloating are prominent but poorly understood features. Our aims were to characterize the abnormal breathing patterns and abdominal bloating, investigate the distribution of these by age and mutation type and examine their impact and management from a caregiver perspective. We invited previously recruited families from the International Rett Syndrome Study ...
Rett syndrome (RTT) is a rare, progressive neurodevelopmental disorder that almost exclusively affects girls, and is caused by a mutation in the MECP2 gene. The authors highlight major milestones in RTT over the past 50 years, and acknowledge the international collaborations that are driving this research programme.
Aim null This systematic review identified and thematically appraised clinical evidence of movement disorders in patients with Rett Syndrome (RTT). null Method null Using the PRISMA criteria, six electronic databases were searched from inception to April 2021. A thematic analysis was then undertaken on the extracted data to identify potential themes. null Results null Following the thematic analysis, six themes emerged (1) Clinical features of abnormal movement behaviours, (2) Mutational profile...
BACKGROUND There is a dearth of literature available on the comparative oral health status of those with Rett syndrome (RTT) despite diurnal bruxism being a supportive diagnostic criterion for the disorder. This study was designed to investigate the dental experiences of individuals with RTT in terms of perceived at-home and professional dental care. METHODS Using data in the InterRett database, provided by English-speaking families of individuals with a confirmed MECP2 genetic mutation, the stu...
