Economic burden and health-related quality of life associated with Prader-Willi syndrome in France.

BACKGROUND: To date, there has been no published comprehensive estimation of costs related to Prader-Willi syndrome (PWS). Our objective was therefore to provide data on the economic burden and health-related quality of life associated with PWS in France in order to raise awareness of the repercussions on individuals suffering from this syndrome and on caregivers as well as on the health and social care systems. METHOD: A retrospective cross-sectional study was carried out on 51 individuals recruited through the French PWS patient association. 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-5L health questionnaire was used to measure the health-related quality of life of individuals suffering from PWS and their caregivers. RESULTS: The average annual cost of PWS was estimated at €58 890 per individual, with direct healthcare accounting for €42 299, direct non-healthcare formal costs €13 865 and direct non-healthcare informal costs €8459. The main contributors to PWS costs were hospitalisations and social services. Indirect costs resulting from loss of productivity in the labour market was €32 542 for adults suffering from PWS. Mean EQ-5D utility scores were 0.4 for individuals with PWS and 0.7 for caregivers. CONCLUSIONS: Prader-Willi syndrome represents a major economic burden from a societal perspective and has a significant impact on health-related quality of life both for individuals suffering from PWS and for their caregivers in France. These results underscore the need to develop tailored policies targeted at improving care. Likewise, a larger study collecting a broader range of medical characteristics should be undertaken to achieve more precise estimations.

Parent Recommendations for Family Functioning With Prader-Willi Syndrome: A Rare Genetic Cause of Childhood Obesity.

UNLABELLED: Prader-Willi syndrome (PWS) is the most common genetic cause of childhood obesity. Neonates have hypotonia and may fail to growth and develop. Within a few years, behavioral problems occur along with insatiable hunger (hyperphagia) and the potential for excessive weight gain. The purpose of this study was to identify how families function when they have a child with PWS. DESIGN AND METHODS: This qualitative descriptive study was based on 20 face-to-face, audio-taped interviews with parents. They were asked to identify family responses to PWS and offer recommendations. Data were transcribed, coded and analyzed for commonalities and themes. RESULTS: There were twelve identified themes with two overarching themes of 1) taking action and 2) caring for oneself and family. Taking action was focused on achieving what was best for the child with PWS. Caring for oneself and family attempted to assure that all in the family were healthy, content, and living a fulfilling life under their circumstances. CONCLUSIONS: This study revealed parental insight as to how they learned to creatively cope with a stressful family life. There was a recognition of inevitable sacrifice and the need for changes in expectations so as to help the child with PWS flourish while also focusing on the needs of all the members of the family. PRACTICE IMPLICATIONS: Nursing and health care providers should be aware of these issues in the provision of anticipatory guidance to families contending with this genetic disorder.

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.

Temper outbursts in Prader-Willi syndrome: causes, behavioural and emotional sequence and responses by carers.

BACKGROUND: Temper outbursts are common in Prader-Willi syndrome but rarely described in detail. This study investigated the phenomenology of temper outbursts in terms of antecedents, sequence of behaviours and emotions and intervention strategies used. METHOD: A semi-structured interview about temper outbursts was conducted with the main carers of seven children (9.5 to 16.7 years) and seven adults (24.7 to 47.10 years) with Prader-Willi syndrome (10 male, 4 female). Reliability and validity of the interview results was established. RESULTS: Various setting events increased and reduced the likelihood of temper outbursts. The most common antecedent was a change to routine or expectation. There were marked similarities in the sequence of behaviours and emotions during temper outbursts, with anger rising quickly followed by expressions of remorse and distress at the end of an outburst. DISCUSSION: The sequence of behaviours and emotions within outbursts was similar to that described in temper tantrums in typical development. Cognitive and emotional processes are likely to be important in the understanding of temper outbursts with implications for early intervention.

Care of the patient with Prader-Willi syndrome.

Prader-Willi syndrome (PWS), a complex, neurodevelopmental genetic disorder with an estimated incidence of 7 in 10,000-29,000 people, is found in all races and both genders. It is the most commonly identified genetic cause of obesity. A multidisciplinary approach to managing PWS is highlighted, along with elements that should be included in a treatment plan, to help nurses deliver comprehensive care to meet the complex biopsychosocial needs of adults with PWS.

Quality of life in caregivers of young children with Prader-Willi syndrome.

BACKGROUND: This study aimed to measure quality of life (QOL) in primary caregivers of young childrenwith Prader-Willi syndrome (PWS). METHODS: The caregivers of 32 children aged from 6.1 to 71.2 months completed the Chinese version of the World Health Organization Quality of Life-BREF (WHOQOL-BREF). We also evaluated the social adaption capacity of these children with Infants-Junior Middle School Students' Social-Life Abilities Scale. Correlation test was used to explore the related factors to caregivers' QOL. RESULTS: Caregivers of young children with PWS had significantly lower QOL. The correlation analyses revealed that caregivers' QOL was lower in children with young age, combined diseases or symptoms or poor social adaption, or caregivers having concerns about the child. CONCLUSIONS: Rearing a chilld with PWS may lead to decreased QOL. Psychological status of caregivers should be highlighted and social support should be given to families with PWS children.

[Arduous navigation: the life story of a family raising a young child with Prader-Willi syndrome].

The purpose of this narrative research was to explore the life experience of a family with a son suffering from congenital Prader-Willi syndrome (PWS). Difficulties associated with raising a PWS child led the mother to leave the family with her afflicted son. The author analyzed the story of this family and applied metaphors to describe the course of the family's life in terms of a "navigational map of life". This map included the six components of: 1. Leaving port (sailing toward an unknown future); 2. Facing a tsunami (undergoing a trial from God); 3. Striking a reef (a fragile boat in a vast ocean); 4. Isolated on an island (the interdependent relationship between mother and child); 5. Transformation (adjustment and starting over); and 6. Hoisting the sails (staying to the course of making dreams come true). In this study, the researcher served as the nu rse case manager and interacted with family members to provide health care, consultation and support as needed. The mother of this young PWS child has empowered herself, overcome her suffering and prepared herself well to face the challenges of the future.

"Over time it just becomes easier ": parents of people with Angelman syndrome and Prader-Willi syndrome speak about their carer role.

PURPOSE: This study investigated two of the stresses experienced by parents caring for offspring with Angelman syndrome (AS) and Prader-Willi syndrome (PWS) in Western Australia, and identified their coping strategies. METHODS: Parents of 19 offspring with AS and PWS participated in the Family Stress and Coping Interview which provides a stress level score, and a discussion of stressors and coping methods associated with 24 life situations, two of which are reported. All text was examined using directed content analysis. RESULTS: Family carers (14/19) reported high stress associated with the initial diagnosis of AS or PWS in their offspring; and finding time for themselves. Stressors identified included lack of quality information about the disorder, time constraints and physical and emotional tiredness. Parents adopted a variety of coping strategies, including learning about the disorder, accepting the situation, seeking instrumental and social supports and dealing with problems. CONCLUSIONS: No specific coping strategy was associated with reduced stress. However, parents felt that accurate and timely information during the diagnostic period helped. Parents used family and community support although there were difficulties accessing respite care. It is advised that government agencies, service providers, family members and peer support associations should provide practical and emotional support to assist the parents of offspring with AS and PWS, and indeed any form of intellectual disability, across the lifespan. Implications for Rehabilitation Long-term caring for offspring with AS or PWS can involve considerable stress for parents. Stress has been associated with poorer health outcomes for parental carers. Parents need a variety of practical and emotional supports to cope with stress, including timely access to information.

Prader-Willi syndrome.

Prader-Willi Syndrome (PWS) is a relatively common complex genetic disorder that is diagnostically and therapeutically challenging to health-care professionals. Nursing observations of significant neonatal feeding problems may assist in identification of the infant with PWS. Once nurses become familiar with the characteristics of this multi-system condition, they can provide specific assistance to PWS infants and their families.

A community outreach program for individuals with Prader-Willi syndrome.

Individuals with Prader-Willi Syndrome (PWS) face life with multifaceted problems that hinder adaptation to daily life. Helping this population presents a major challenge to health professionals. With few exceptions, primary providers lack support systems essential for effective management. The Iowa Child Health Specialty Clinics (CHSC) has pioneered an outreach program for affected children, their families, and primary providers. Community-based services provided by a CHSC regional nurse and PWS consultant emphasize education, communication, networking services, case review, and pragmatic approaches to care. Satisfaction with initial outreach has been high. This discussion proposes to better prepare nurses to appreciate needs of individuals with PWS and their families and to function as coordinators of services.

Anticipatory guidance for parents of Prader-Willi children.

Prader-Willi syndrome (PWS) is a complex genetic disorder. It is characterized by hypotonia, short stature, hypogonadism, mental retardation, behavioral problems, and hyperphagia, which result in excessive obesity (Lindgren et al., 2000). The abnormal body composition resembles children seen with growth hormone deficiency (Carrel & Allen, 2001) . The dysmorphic features characteristic of PWS include a narrow forehead, a broad nasal bridge, slightly up slanting almond-shaped palpebral fissures, a down turned mouth with a thin upper lip, and narrow hands and feet (Martin et al., 1998). Management of children with PWS requires an ongoing multidisciplinary approach. The delivery of care includes assistance from geneticists, nutritionists, internists, endocrinologists, physical therapists, and psychologists to meet the medical, developmental, behavioral, and social needs. The focus of the nurse practitioner should include assisting the family in the management of these complex patients throughout their childhood.

[Prader-Willi syndrome. Presentation of a case]. / Síndrome de Prader-Willi. A propósito de un caso.

We report the case of a term infant of 39+1, born by emergency cesarean section due to suspected fetal distress with an Apgar test 4/6/8 and axial hypotonia with weak reflexes. After 52 days of hospitalization an individualized care plan was developed and applied based on Marjory Gordon's functional patterns model and NANDA domains. We used the NANDA diagnoses, interventions according to nursing interventions classification (NIC), and the expected results as classified by nursing outcomes (NOC). Through the care plan, the identified diagnoses and potential complications were resolved. Progress was slow but favorable, stimulating sucking and achieving a good breastfeeding latch, with an appropriate weight gain, decreased muscle stiffness, and increased response to stimuli.

Prader Willi and Angelman syndromes: exemplars of genomic imprinting.

The molecular phenomenon genomic imprinting provides an explanation for why two clinically distinct syndromes share genetic etiologies. Increased understanding of genomic imprinting is affecting diagnostics. Use of improved diagnostic tests can enable early, syndrome-specific, and anticipatory interventions and consequently, improved quality of life; however, these tests are of little use unless clinicians are able to identify at-risk patients. Nurses knowledgeable about Prader Willi and Angelman syndromes and their associated genetic mechanisms can play a significant role in early identification, referral, and intervention of patients with these conditions.