Using directed-content analysis to identify a framework for understanding quality of life in adults with Rett syndrome

Purpose: 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 of life (QOL) important for children with RTT but there has been no investigation of domains important for adults. This qualitative study explored QOL in adults with RTT and compared domains with those previously identified for children. Methods: The sample comprised parents and/or primary caregivers of 20 adults, aged 18–38 years, who were registered with the Australian Rett Syndrome Database. Semi-structured telephone interviews were conducted to investigate aspects of life that were observed to be satisfying or challenging. Data were analyzed using directed content analysis, based on existing QOL domains for children with RTT that related to health and wellbeing, daily activities, and community immersion and services. Results: Each of the domains identified for children with RTT was represented in the adult dataset, with no new domains emerging. Conclusion: This is the first study to identify QOL domains important for adults with RTT. Health and therapy needs are ongoing during adulthood but services may be limited. Findings will guide choice of an appropriate QOL measure for this group.IMPLICATIONS FOR REHABILITATION Knowing the important domains of quality of life enables clinicians and service providers to systematically review and address key management issues. Despite a high level of dependency and sometimes poor health, parent caregivers perceive potential for strong quality of life in adulthood. Services that maintain functional skills and health throughout the lifespan are valued for their support of quality of life in adults with Rett syndrome

The conductive environment enhances gross motor function of girls with Rett syndrome. A pilot study

Introduction: Rett syndrome (RTT) is a neurological disorder usually associated with a mutation in the MECP2 gene. Conductive Education (CE) is an educational approach that has not yet been explored with regard to children with RTT. Objective: Assessing functional abilities of individuals with RTT due to CE intervention. Design: A single subject, AB design. Method: This study assessed the functional skills of three girls with RTT aged 3–5 years before and during participation in a CE programme. Results: Gross motor function improvements were observed at the end of the intervention period. Gross motor skills declined slightly in all participants over the summer holidays but improved again a few months after recommencement of the educational year. Conclusion: Replication of this study with more subjects is justified as is comparison with other educational methods. A home intervention programme should be constructed to prevent decline of skills over the summer vacation

Caring for a child with severe intellectual disability in China: The example of Rett syndrome

Purpose: Rett syndrome is one of several genetic disorders known to cause severe intellectual and physical disability, mostly in girls. Girls affected by Rett syndrome appear to develop normally in the first 6 months of life, after which the usual clinical presentation comprises regression of communication and hand skills, the appearance of hand stereotypies and impaired gait. Intellectual disability affects more than 1.5% of the population of children in developing countries yet we know little about the daily lives and support services available for them and their caregivers. Method: This qualitative study explored the daily experiences of 14 mothers and one grandmother caring for a child with Rett syndrome in China via telephone interviews. Results: Participants reported a lack of education, rehabilitation and support services available to them. Limited access to information reduced families’ capacity to adequately meet the needs of their child. These gaps were further exacerbated by discrimination and perceived stigma from some members of the community. Conclusions: Additional support services and educational programs at the governmental level can improve the quality of life of persons with an intellectual disability and their families and programs involving community participation in the care of people with disabilities may help to address discrimination

Twenty years of surveillance in Rett syndrome: what does this tell us?

Background: The clinical characteristics of children diagnosed with Rett syndrome are well described. Survival and how these characteristics persist or change in adulthood are less well documented. This study aimed to describe overall survival and adult health in those with Rett syndrome .Methods: Using the Kaplan-Meier method, we estimated survival of individuals registered with the Australian Rett syndrome Database (ARSD) who had been followed for up to 20 years (n = 396). We then conducted logistic and linear regression analyses investigating epilepsy, musculoskeletal, gastrointestinal, autonomic dysfunction and behaviour of individuals aged 18 years and over using cross sectional cohorts from the ARSD (n = 150) and the international database InterRett (n = 273).Results: The likelihood of survival was 77.6% at 20 years, 71.5% at 25 years and 59.8% at 37 years. The median age of the combined cross-sectional cohort was 25 years (range 18 to 54 years), the majority (71%) were living in their parental home and the remainder being cared for in group homes or other institutions. Just over half walked either independently (18%) or with assistance (43%). The majority (86%) had scoliosis with 40% of those having undergone corrective surgery. Almost two-thirds (64%) of the women were taking anti-epileptic medications at the time of data collection. Constipation was highly prevalent (83%) and many experienced bloating (53%). Biliary dyskinesia, inflammation or infection of the gallbladder was reported for 20 women (5%) and of those 13 had undergone gallbladder surgery. Sleep disturbance was relatively common (63%), and adverse mood events and anxiety were slightly more prevalent in those aged 26-30 years in comparison to the younger and older age groups. Other frequently reported medical conditions included urinary tract infections, pneumonia and other respiratory conditions. Conclusions: Survival in Rett syndrome has now been estimated with the most accurate follow up to date. During adulthood, continuation of multidisciplinary services and programs is necessary to optimise health and wellbeing

Family satisfaction following spinal fusion in Rett syndrome

PURPOSE: We evaluated family satisfaction following spinal fusion in girls with Rett syndrome. METHODS: Families participating in the population-based and longitudinal Australian Rett Syndrome Database whose daughter had undergone spinal fusion provided data on satisfaction overall, care processes and expected changes in health and function. Content analysis of responses to open-ended questions was conducted. RESULTS: Families reported high levels of overall satisfaction and consistently high ratings in relation to surgical and ICU care. Outstanding clinical care and the development of strong partnerships with clinical staff were much appreciated by families, whereas poor information exchange and inconsistent care caused concerns. CONCLUSIONS: Family satisfaction is an important outcome within a patient-centred quality of care framework. Our findings suggest strategies to inform the delivery of care in relation to spinal fusion for Rett syndrome and could also inform the hospital care of other children with disability and a high risk of hospitalization

There is variability in the attainment of developmental milestones in the CDKL5 disorder

Background: Individuals with the CDKL5 disorder have been described as having severely impaired development. A few individuals have been reported having attained more milestones including walking and running. Our aim was to investigate variation in attainment of developmental milestones and associations with underlying genotype. Methods: Data was sourced from the International CDKL5 Disorder Database, and individuals were included if they had a pathogenic or probably pathogenic CDKL5 mutation and information on early development. Kaplan-Meier time-to-event analyses investigated the occurrence of developmental milestones. Mutations were grouped by their structural/functional consequence, and Cox regression was used to investigate the relationship between genotype and milestone attainment. Results: The study included 109 females and 18 males. By 5 years of age, only 75% of the females had attained independent sitting and 25% independent walking whilst a quarter of the males could sit independently by 1 year 3 months. Only one boy could walk independently. No clear relationship between mutation group and milestone attainment was present, although females with a late truncating mutation attained the most milestones. Conclusion: Attainment of developmental milestones is severely impaired in the CDKL5 disorder, with the majority who did attain skills attaining them at a late age. It appears as though males are more severely impaired than the females. Larger studies are needed to further investigate the role of genotype on clinical variability

Effect of Sitting Posture on Development of Scoliosis in Duchenne Muscular Dystrophy Cases

Background: Scoliosis is a frequent association in boys with Duchenne Muscular Dystrophy when the ability to walk is lost around nine to 12 years of age. This study assessed the contribution of physical factors including lumbar posture to scoliosis in non-ambulatory youth with DMD in Nepal. Methods: Linear regression was used to assess effects of time since loss of ambulation, muscle strength, functional severity and lumbar angle as a binary variable on coronal Cobb angle; again logistic regression was used to assess effects of muscle strength and cross-legged sitting on the presence of a lordotic lumbar posture in 22 non-ambulant boys and young men. Results: The boys and young men had a mean (SD) age of 15.1 (4.0) years, had been non-ambulant for 48.6 (33.8) months and used a median of 3.5 (range 2 to 7) postures a day. The mean Cobb angle was 15.1 (range 0 to 70) degrees. Optimal accuracy in predicting scoliosis was obtained with a lumbar angle of -6° as measured by skin markers, and both a lumbar angle ≤-6° (P=0.112) and better functional ability (P=0.102) were associated with less scoliosis. Use of cross-legged sitting postures during the day was associated with a lumbar angle ≤-6° (OR 0.061; 95% CI 0.005 - 0.672; P=0.022). Conclusions: Use of cross-legged sitting posture was associated with increase in lumbar lordosis. Higher angle of lumbar lordosis and better functional ability are associated with lesser degree of scoliosis

Impact of Gastrostomy Placement on Nutritional Status, Physical Health, and Parental Well-Being of Females with Rett Syndrome: A Longitudinal Study of an Australian Population

© 2018 Elsevier Inc. 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 estimate the association between repeated measures of outcomes and age, gastrostomy placement and their interaction and Cox proportional hazards regression models to estimate relative risks of mortality for individuals with gastrostomy. Results: Nearly one-third (30.3%) of the cases underwent gastrostomy placement. Nutritional status based on weight, height, and body mass index (BMI) improved over time, and BMI was greater in individuals with gastrostomy placement than in those without (adjusted β = 0.87, 95% CI 0.02-1.73). There was no association between gastrostomy placement and individual's physical health outcomes or parental physical and mental health, nor did the age trend of these outcomes vary by gastrostomy insertion status. Nevertheless, among those at risk of suboptimal weight, the all-cause mortality rate was greater in those who had gastrostomy placement compared with those who had not (hazard ratio 4.07, 95% CI 1.96-8.45). Conclusion: Gastrostomy placement was associated with improvement in BMI in females with Rett syndrome, but its long-term impact on individuals and their families is unclear

Epidemiology of gastrostomy insertion for children and adolescents with intellectual disability

The largest group of recipients of pediatric gastrostomy have neurological impairment with intellectual disability (ID). This study investigated trends in first gastrostomy insertion according to markers of disadvantage and ID etiology. Linked administrative and health data collected over a 32-year study period (1983–2014) for children with ID born between 1983 and 2009 in Western Australia were examined. The annual incidence rate change over calendar year was calculated for all children and according to socioeconomic status, geographical remoteness, and Aboriginality. The most likely causes of ID were identified using available diagnosis codes in the linked data set. Of 11,729 children with ID, 325 (2.8%) received a first gastrostomy within the study period. The incidence rate was highest in the 0–2 age group and there was an increasing incidence trend with calendar time for each age group under 6 years of age. This rate change was greatest in children from the lowest socioeconomic status quintile, who lived in regional/remote areas or who were Aboriginal. The two largest identified groups of ID were genetically caused syndromes (15.1%) and neonatal encephalopathy (14.8%). Conclusion: Gastrostomy is increasingly used in multiple neurological conditions associated with ID, with no apparent accessibility barriers in terms of socioeconomic status, remoteness, or Aboriginality.What is Known:• The use of gastrostomy insertion in pediatrics is increasing and the most common recipients during childhood have neurological impairment, most of whom also have intellectual disability (ID).What is New:• Nearly 3% of children with ID had gastrostomy insertion performed, with the highest incidence in children under 3 years of age.• Gastrostomy use across different social groups was equitable in the Australian setting

Comorbidities and quality of life in children with intellectual disability

Background: Many children with intellectual disability live with medical comorbidities. This study examined the impacts of comorbidities on quality of life (QOL) of children with intellectual disabilities and whether impacts varied with caregiver perceptions that medical needs had been met. Methods: Primary caregivers of 447 children (aged 5–19 years) with an intellectual disability reported on their child's medical comorbidities and the extent to which they perceived their child's medical needs had been met in a cross-sectional observational study. The Quality of Life Inventory-Disability was used to measure QOL on a 100-point scale. Linear regression models including interaction terms were used to evaluate their associations. Results: Parent-reported recurrent child pain (−4.97, 95% CI −8.21, −1.72), night-time sleep disturbances (−4.98, 95% CI −7.23, −2.73), daytime somnolence (−8.71, 95% CI −11.30, −2.73), seizures that occurred at least weekly (−7.59, 95% CI −13.50, −1.68) and conservatively managed severe scoliosis (−7.39, 95% CI −12.97, −1.81) were negatively associated with child QOL. Despite the majority of parents (~70%) perceiving that their child's medical needs had been met to a great extent, this did not significantly moderate the association between any comorbidities and QOL. Conclusions: Comorbidities were common and had marked associations with QOL. Evaluation and management of pain and sleep disturbance continue to be high priorities in improving QOL of young people with intellectual disabilities. Further research on the optimal methods of managing these comorbidities is warranted