An analysis of use of equipment and respite services by families with a daughter with Rett Syndrome

Purpose: This literature review examines the body of knowledge concerning the use of respite services and assistive products and technology, child and family characteristics, and parental well-being among families with a daughter with Rett syndrome or with a child with another developmental disability. Method: Literature published in the time period 1983-2009 was searched. Studies were included in this review if they reported use of respite services or assistive products and technology among families with a daughter with Rett syndrome or with a child with another developmental disability. Child and family characteristics and parental well-being were also considered. Results and conclusions: Respite services have the potential to decrease parental stress and therefore may provide an important resource for families with a child with a disability. Additionally a number of characteristics including the age and clinical severity of a child with a disability and where their family lives may impact on the use of supportive resources. However there is a clear need for research to examine the relationships between child and family characteristics, the use of supportive resources and parental well-being in families with Rett syndrome. The use of supportive resources in Rett syndrome 3 Relationships between child and family characteristics, the use of supportive resources and parental well-being in Rett syndrome and other developmental . disabilities. Introduction Rett syndrome is a rare neurodevelopmental disorder affecting 1:8500 females by the age of 15, making it a leading cause of severe intellectual disability in females . The clinical features of Rett syndrome were first identified by Dr. Andreas Rett in 1966. However not until Hagberg and his colleagues described the disorder in a case series of 35 patients did Rett syndrome become widely recognised . Features of Rett syndrome typically manifest following a period of apparently normal development in the first six months of life . Common clinical features include loss of purposeful hand use and the development of hand stereotypies, loss of communication skills, cognitive impairment, impaired mobility and social withdrawal . In addition breathing abnormalities, epilepsy, growth retardation and sqoliosis may develop . 4. The progression of Rett syndrome usually follows four clinical stages . The first stage occurs between the ages of 6 and 18 months. During this stage girls experience developmental arrest, decreased interest in social activities and, unspecific, episodic hand waving may occur. Following is a stage of rapid developmental regression where intellectual disability, hand stereotypies, and apraxic and ataxic gross motor moverr1.ents become evident. Some stabilisation in clinical features may occur once girls are of school age, although severe physical and intellectual limitations are still present . During the final stage, older girls and women experience a further deterioration in motor abilities , with many previously mobile girls/women loosing the ability to walk . Older girls/women may also experience further reductions in hand function 7 and an improvement in emotional contact at this stage • Although changes in the presentation of Rett syndrome occur with age, the clinical features observed in Rett syndrome result in severe physical and intellectual disability throughout the lifespan. The use of supportive resources in Rett syndrome 4 Diagnostic criteria for Rett syndrome were first developed in 1988 8 and have since been updated to better cater for the inclusion of atypical cases, that meet some but not all ofthe criteria 3. The discovery of the causal gene for Rett syndrome, methyl-CpGbinding protein 2 (MECP2) in 1999 has allowed clinical diagnosis to be verilled with genetic testing in many cases . MECP2 mutations have been identified in up to 95% of genetically tested cases •, with seven commonly occurring mutations (p.R133C, p.T158X, p.R168X, p.R255X, p.R294X and R306C) accounting for approximately 80% of pathogenic mutations among an Australian cohort of girls/women with Rett syndrome . Despite this, Rett syndrome remains clinically defined as girls and women may fulfll the diagnostic criteria in the absence of a mutation . Many recent studies have investigated the relationship between specific mutations and phenotype. Consensus in numerous studies is that the p.R270X mutation is associated with a more severe phenotype. Girls and women with this mutation may be expected to lose skills such as motor function, hand use a~d social interaction earlier and overall function more poorly " In contrast, girls and women with a p.R294X mutation have been associated with a milder phenotype " . Still much clinical variation between girls/women with the same mutation and especially between girls/women with different mutations is present . It is suggested that this may be due to X inactivation status and other genetic influences and continues to be the focus of present research •. The management of Rett syndrome is often complex due to the various physical and intellectual impairments that result :fi:om the condition. As a result, numerous resources including medical, hospital, therapy, respite and alternative accommodation services are utilised by families caring for a girl/women with Rett syndrome . An understanding of the need for these resources is crucial for effective planning and organisation of the care and management of girls/women with Rett syndrome. Also, little is known about the relationships between the use of resources, child and family characteristics and parental well-being among families with a daughter with Rett syndrome. The use of supportive resources in Rett syndrome 5 The purpose of this review was to examine the body of knowledge concerning the use of respite services and assistive products and technology in Rett syndrome and other developmental disabilities. The relationships between the use of these suppottive resources, child characteristics (age, clinical severity and behaviour), family characteristics (socio-economic status, family size and geographical location) and parental well-being were also considered. To facilitate an understanding of the complex interactions between these variables, the International Classification of Functioning, Disability and Health (ICF), a widely recognised framework used to describe the complex relationships between health and health related factors , was used to guide the review ofliterature. Methods Search strategy Literature searches were conducted using four electr9nic databases CINALH, Medline Pysclnfo and lSI Web of Science. The search was confined to the time period 1983-2009, as Rett syndrome was not widely recognised prior to 1983. The main search terms included disability (Rett syndrome, autism, developmental disabilities, and cerebral palsy), participant (child, adolescent, girls and women), intervention (health resources, respite care, assistive technology devices, self-help devices, augmentative communication), and outcome terms (well-being, family, and parents). With the assistance of a librarian, search terms were exploded and adjusted to the terminology of each database. Additionally, reference lists of all retrieved relevant studies were manually searched to identify further studies for possible