Managing health changes for people with a learning disability in a residential care home setting.

BACKGROUND: People with learning disability (LD) have complex comorbidities that develop at an earlier age than the general population and with which they are now living longer. Identification, assessment and management of these conditions is important but challenging. AIM: To develop resources with care staff to enable them to recognise and manage changes and decline in the health of a person with a LD. METHODS: Two resources (PIP-LD and CIRC) were developed through undertaking a literature review; networking with experts; and collaborating with staff in the care homes for people with a LD. Care staff then used these resourcesto review their residents. FINDINGS: The PIP-LD and CIRC were used in 39 care homes. The PIP-LD empowered staff to meet people's immediate health needs, and the CIRC helped them to recognise changes or a decline. CONCLUSIONS: The combined use of the PIP-LD and the CIRC enabled care staff to recognise the signs and symptoms of each person's comorbidities early, and to identify and manage changes when their health declined.

Fragile X syndrome: economic burden and health-related quality of life of patients and caregivers in France.

BACKGROUND: Fragile X syndrome (FXS) is the main hereditary cause of intellectual disability. Although the associated burden appears to be considerable, to date no study has comprehensively assessed the cost incurred because of FXS, including its specific impact on health-related quality of life and the burden on caregivers using standardised quantitative tools. The aim of this article is to provide data in order to increase awareness of the repercussions of FXS on patients and caregivers as well as on the health and social care systems in France. METHODS: A retrospective cross-sectional study was carried out on 145 patients recruited through Le Goëland X-Fragile and Mosaïques, the French FXS patient associations. Data on their demographic characteristics and resource use were obtained from an online questionnaire, and costs were estimated by a bottom-up approach. The EQ-5D health questionnaire was used to measure patients' and caregivers' health-related quality of life. Perceived burden of care was measured using the Zarit Caregiver Burden Interview. The Barthel index, a non-utility-based assessment, was used to measure patients' level of dependence. RESULTS: The annual total direct cost of FXS was estimated at €25 800 per patient. The main contributors were informal care provided by the main caregiver (€10 500) and social services (€8400). Healthcare costs, estimated at €2700, represented only a minor share. Mean EQ-5D utility scores were 0.49 for patients and 0.75 for caregivers. The mean burden for caregivers as measured by the Zarit Caregiver Burden Interview was 39.9. CONCLUSIONS: Fragile X syndrome requires significant resources that are mainly of a non-medical nature and are higher for children than for adults. Compared with related diseases, it constitutes a particularly high burden for caregivers. Using a bottom-up approach and a wide range of standardised measures, this study underscores the need for greater awareness of the burden of FXS as well as an assessment of new and existing interventions to address it.

The Impact on the Family of Four Neurogenetic Syndromes: A Comparative Study of Parental Views.

Research on behavioral phenotypes in neurogenetic syndromes has primarily focused on aspects of the affected child's behavior. However, the impact of having a child with a neurogenetic syndrome on aspects of family functioning can be significant and differ across syndromes. Parents (N = 381) of school-aged children with one of four neurogenetic syndromes: fragile X Syndrome (FXS), Prader Willi Syndrome (PWS), Williams Syndrome (WS) and 22q11.2 (22qDEL) were asked about challenges, restrictions, future concerns and positive aspects arising from having an affected child. Factors associated with these aspects were analysed via logistic regression. Restrictions were most often reported by parents of children with FXS. The factors significantly (p < .01) associated with the parent reported restrictions were the presence of a behavioral/psychiatric condition and a lower level of receptive communication. The challenges endorsed most often were the child's learning and social skills difficulties. Significant differences (p < .01) between the syndromes were noted for many of the challenges. Ninety-six percent of parents endorsed at least one positive aspect but most aspects endorsed did not differ between the genetic syndromes. Having a behavioral/psychiatric condition was the only factor significantly associated (p < .01) with endorsing a lower number of positive aspects and a higher number of challenges. There are some commonalities but also significant differences across syndromes regarding views on how a child's syndrome affects family functioning. These differences may be important with regard to how to counsel and support affected families. The presence of behavioral/psychiatric conditions is an important predictor of negative family outcome across the syndromes.

Health and economic consequences of fragile X syndrome for caregivers.

OBJECTIVE: To describe the health and economic burden experienced by caregivers of individuals with fragile X syndrome (FXS) and test the assumption that burden is associated with specific dimensions of problem behavior. METHODS: Three hundred fifty caregivers rated their son or daughter's problem behavior and reported the use of medical services, caregiving time, impact on employment, financial burden, caregiver injuries, caregiver mental health, and prescription drug use. RESULTS: The son's FXS posed a significant burden for caregivers in a number of areas. Visits to medical specialists were common for both males (5.4 per year) and females (5.1 per year). Caregivers reported 9.2 hours per day of family caregiving for males with FXS and an additional 5.5 hours of paid help. Most families reported that FXS had at least some financial impact on the family, and caregivers had to take an average of 19.4 hours from work each month to care for their child's needs. Almost one third of the caregivers had been injured by their child at least once in the past year; when injuries occurred, the frequency was high (14.7 per year), of which 2.7 required medical care. Approximately one third of the caregivers had seen a professional for anxiety, stress, or depression during the past year, and one fourth were taking medication to help with these symptoms. Caregiver burden was highly associated with problem behavior, most commonly irritability. CONCLUSION: Problem behavior is a strong contributor to burden experienced by caregivers of children and adults with FXS. Clinicians should be aware of the role problem behavior plays in family adaptation and help families access appropriate medical and social support services.

Fragile X syndrome.

Fragile X syndrome is the most common inherited condition causing mental retardation in males. Females with the full mutation expansion can have milder signs of the disorder. Families with members who have been diagnosed with fragile X syndrome face concerns about the health of their newborn infant, decisions regarding family planning, and questions about the possibility that other family members could have this disorder. Neonatal nurses participate in assessment, health care management, counseling, and referral of the families regarding this syndrome.

Clues to the detection of fragile X syndrome.

Ioanna Giannopoulou and Jeremy Turk outline the clues to the detection of fragile X syndrome, the commonest cause of familial mental handicap. Health visitors have a crucial role in the early diagnosis of the syndrome.