Jenny Downs

Purpose To explore relationships between family quality of life, day occupations and activities of daily living (ADL) of young persons with Down syndrome. Method Data were collected from 150 families with a young person with Down syndrome aged 16–30 years participating in the Down syndrome “Needs Opinions Wishes” database. Data described the young person’s characteristics (including functional abilities, behaviour and day occupations) and family characteristics (including income, family and community supports and quality of life). Results Compared to families of young people attending open employment, families of young people participating in sheltered employment tended to report poorer family quality of life, after adjusting for personal characteristics, behaviour and income (coeff −6.78, 95 % CI −14.38, 0.81). Family supports reduced this relationship (coeff −6.00, 95 % CI −12.76, 0.76). Families of young people with greater functioning in ADL reported better family quality of life regardless of personal and environmental factors (coeff 0.45, 95 % CI 0.05, 0.85) and inclusion of family factors such as family supports reduced this association (coeff 0.29, 95 % CI −0.10, 0.67). Conclusions Participation of young people with Down syndrome in open employment may positively influence family quality of life. Services that facilitate functioning in ADL and assist the families in accessing suitable family supports have the potential to positively influence family quality of life.

Objective: This study describes, from the perspective of parents, how females with Rett syndrome communicate in everyday life and the barriers and facilitators to successful communication. Methods: Sixteen interviews were conducted with parents with a daughter with Rett syndrome with a pathogenic mutation in the methyl-CpG-binding protein 2 gene. Interviews were recorded and transcribed verbatim. Transcripts were analysed using directed content analysis. Results: All parents reported their daughters were able to express discomfort and pleasure, and make requests and choices using a variety of modalities including vocalisations, body movements and eye gaze. Parents also reported their daughters understood most of what they said and that the level of functional abilities, such as mobility, and environmental factors, such as characteristics of the communication partner, influenced successful communication. Conclusions: The perspectives of parents are integral to the assessment of communication abilities and have the potential to inform communication interventions for girls and women with 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.

Objective: Rett syndrome is a rare neurodevelopmental disorder that is usually associated with a mutation on the X-linked MECP2 gene. Hand function is particularly affected and we discuss theoretical and practical perspectives for optimising hand function in Rett syndrome. Methods: We reviewed the literature pertaining to hand function and stereotypies in Rett syndrome and developed a toolkit for their assessment and treatment. Results: There is little published information on management of hand function in Rett syndrome. We suggest assessment and treatment strategies based on available literature, clinical experience and grounded in theories of motor control and motor learning. Conclusion: Additional studies are needed to determine the best treatments for hand function in Rett syndrome. Meanwhile, clinical needs can be addressed by supplementing the evidence base with an understanding of the complexities of Rett syndrome, clinical experience, environmental enrichment animal studies and theories of motor control and motor learning.