The Ethical Imperative to See the Whole Person: A Conversation With Lois Swope.

Mary Koloroutis, CEO of Creative Health Care Management, talks with Lois Swope, whose daughter Karly lived with Rett Syndrome until her death in 2012 at age 27. They spoke about the inestimable gifts of Karly's life and the four lessons for people in health care that Lois learned while overseeing Karly's care.

"Living an Obstacle Course": A Qualitative Study Examining the Experiences of Caregivers of Children with Rett Syndrome.

Background: Rett syndrome has considerable effects on the quality of life of affected children, impairing everyday activities and potentially impacting the life of both the caregivers and the family. Our aim was to explore the experiences of a group of caregivers of children with Rett syndrome with regards to living and caring for their children. Methods: We conducted a qualitative case study to examine how 31 caregivers of children with Rett syndrome perceived living with their children. Data were collected through in-depth interviews, focus groups, researchers' field notes and caregivers' personal documents. A thematic analysis was performed following the Consolidated Criteria for Reporting Qualitative Research (COREQ) guideline. Results: The experience of being a caregiver of a child with Rett syndrome was expressed as being akin to an "obstacle course", and was described via three main themes: (a) looking for answers, with two subthemes identified, namely 'the first symptoms', and 'the need for a diagnosis'; (b) managing day to day life, with the subthemes 'applying treatments', and 'learning to care'; and (c) money matters. Conclusions: Rett syndrome has a considerable impact on the lives of the caregivers involved. The health-care process and the management of economic resources are some of the aspects highlighted by caregivers. These findings have important implications for the planning of support services, health systems and health policies.

Health-related quality of life and depression in Rett syndrome caregivers.

BACKGROUND/AIM: Rett syndrome (RTT) is a severe neurodevelopmental disorder primarily affecting females with an estimated incidence of 1:10,000-15,000 female births. Currently, there is no specific treatment that halts or reverses the progression of RTT. Therefore, management was mainly symptomatic, focussed on optimising patient's abilities. The aim of this study was to investigate factors influencing health-related quality of life (HRQoL) and depression in mothers who care for children with Rett syndrome (RTT) in Serbia. METHODS: The cross-sectional study was conducted on 49 mothers giving care to females with RTT. Caregivers" HRQoL was assessed by using the SF-36 questionnaire. Clinical severity score (CSS) of RTT patients and Beck Depression Inventory II (BDI -II) scale were used to quantify RTT severity and mothers' depression, respectively. Statistical assessment included descriptive statistics, t-test, Pearson correlation coefficient and multiple logistic regression. RESULTS: The age of mothers ranged from 22 to 55 years and of their affected children from 3 to 29 years. Severe depression was observed in 15 (30.6%) participants. CSS and BDI-II scores correlated negatively with all SF-36 domains and composite scores. Lowest scoring domains of HRQoL in mothers giving care to RTT children were mental health, vitality and role functioning emotional. Multiple linear regression analysis revealed that severity of RTT patients' disability (CSS) and caregivers' age are factors with strongest influence to HRQoL and depression in care giving mothers. CONCLUSION: Mothers giving care to children with RTT are at high risk of severe depression and lower HRQoL scores of domains that reflect mental well-being. Results of this study can help in planning subsequent interventions directed at families dealing with Rett syndrome.

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.

Physical and mental health of mothers caring for a child with Rett syndrome.

OBJECTIVES: Our goal was to investigate the physical and mental health of mothers who care for a child with Rett syndrome. METHODS: We assessed maternal physical and mental health by using the SF-12 version 1 physical component summary and mental component summary scores as the outcome measures of interest. Mothers (n = 135) of children with Rett syndrome completed the SF-12 measure as part of the Australian Rett Syndrome Study in 2002. The analysis investigated linear relationships between physical and mental health scores and maternal, family, and child characteristics. RESULTS: Mothers ranged in age from 21 to 60 years and their children from 3 to 27 years. Nearly half of these mothers (47.4%) indicated that they worked full-time or part-time outside the home, and 41% had a combined family (gross) income of <40,000 Australian dollars. The resultant model for physical health demonstrated that the following factors were positively associated with better maternal physical health: the mother working full-time or part-time outside the home, having some high school education, having private health insurance, the child not having breathing problems in the last 2 years, the child not having home-based structured therapy, and high scores on the Family Resource Scale (indicating adequacy of time resources for basic and family needs). The resultant model for mental health demonstrated that the following factors were positively associated with better maternal mental health: the mother working full-time or part-time outside the home, the child not having a fracture in the last 2 years, lesser reporting of facial stereotypes and involuntary facial movements, being in a well-adjusted marriage, and having low stress scores. CONCLUSIONS: Our study suggests that the most important predictors of maternal physical and emotional health are child behavior, caregiver demands, and family function.

Perturbations in the development of infants with Rett disorder and the implications for early diagnosis.

The gene discovery in Rett disorder has opened the way for the development of clinical intervention. Initial recognition of affected infants will depend on observation by clinicians and the development of key diagnostic criteria is of crucial importance. Perturbations in the development of very young infants are emerging in studies of home videos. Observations from experienced health practitioners and home video transcriptions are presented which indicate the nature of early clues to the disorder and their fluctuating nature. Early diagnosis is likely to be available before the development of effective treatment. Most children are not diagnosed before regression and, currently, no therapies are equipped to offer support to pre-regression infants and their families. When earlier diagnosis becomes available, parents of the newly-diagnosed infant will be aware of their infant's difficult future before her problems are fully apparent. Practitioners in regular contact with families will have the sensitive task of supporting infants in early infancy and into regression.

Nurse recognition of early deviation in development in home videos of infants with Rett disorder.

BACKGROUND: In the genetic Rett disorder (RD), infants make some progress then suffer a dramatic developmental regression, usually before 2 years of age. Home videos, taken before the problems are recognized, offer an objective source for detecting early signs. METHODS: Thirty-six health visitors and midwives were invited to view brief examples from home videos of a cohort of 14 infants with RD and 11 control infants with normal development in the first year of life, and to indicate, by pressing a button, points in the recordings which aroused their suspicion of developmental deviation. They were then invited to comment on their selection. The participants were blind as to whether any individual example showed an infant with normal development or one with some form of developmental disturbance. RESULTS: From the first month of life and throughout the first year, infants with RD received more button presses than controls (46%, 361 out of 778 viewings) in comparison with the control group (12%, 67 of 558). The consistent nature of the health professionals' comments made possible their categorization under four headings: appearance, posture, movement and contact. In the first month of life, the hand postures of infants with RD received particular comment from midwives (23 out of 37 comments overall on posture). CONCLUSIONS: The present study strongly suggests the presence of early signs of developmental deviation in infants with RD, although, in most cases, formal developmental screening procedures have failed to detect these before the ages of 12 or 18 months.

Rett's syndrome: a case study.

Rett's syndrome, first described in Austria in 1966 by Dr. Andreas Rett, became known as such in 1983 when Dr. Bengt Hagberg in Sweden realized that he and his colleagues from France and Portugal were not the first to recognize this disorder. In Sweden the syndrome was found to occur in at least 1 per 15,000 female births by 1985, about twice that of phenylketonuria (PKU) in the same area. The syndrome is limited to girls and involves atrophy of the brain with loss of previously learned cognitive and motor skills after eighteen months of age. Although there are variations in the numerous clinical features, most girls develop seizures, muscle wasting, contractures, severe weight loss and bizarre behaviors. All races are affected and four clinical stages have been established. Nurses are more likely to become involved during the final stage of this disorder when families can no longer cope without professional intervention. A case study of a 9 year-old girl is presented.