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Book

Prader-willi syndrome: home, school and community

Authors:
JAMES Terrance N., BROWN Roy I.
Publisher:
Chapman and Hall
Publication year:
1992
Pagination:
239p.,bibliog.
Place of publication:
London

Describes research and practice relating to this condition, a form of learning disability with some physical problems. Discusses educational and behavioural issues. Addresses the major problems from the child's and the family's perspectives and makes recommendations concerning child and adult phases of development. Practical text aimed at all professionals working with those with PWS and their families, as well as at parents.

Journal article

The relationship between components of the behavioural phenotype in Prader-Willi syndrome

Authors:
OLIVER C., WOODCOCK K.A., HUMPHREYS G.W.
Journal article citation:
Journal of Applied Research in Intellectual Disabilities, 22(4), July 2009, pp.403-407.
Publisher:
Wiley-Blackwell

Repetitive questions and temper outbursts form part of the behavioural phenotype of Prader-Willi syndrome (PWS). This study investigated the phenomenology of temper outbursts in PWS and their relationship with other PWS behavioural characteristics. Four individuals with PWS were observed (5–10 h), during a number of experimental and natural environment challenges, some of which were expected to trigger temper outbursts. Individual behaviours including crying, ignoring, arguing, questioning, stereotypy, frowning and posture changes were recorded and subjected to lag sequential analysis. All participants were significantly more likely to show repetitive questioning before more challenging behaviours such as crying, arguing or ignoring requests. Precursor behaviours such as frowning and stereotypical behaviour were identified in three participants. The authors conclude that temper outbursts in PWS may be associated with other PWS behavioural phenotypic characteristics such as repetitive questions and 'stubbornness'. A progression of behaviours may lead up to the most challenging temper outburst behaviours. This may have important implications for effective coping strategies.

Journal article

Genetic and behavioural aspects of Prader-Willi Syndrome: a review with a translation of the original paper

Authors:
CLARKE D.J., BOER Harm, WEBB Tessa
Journal article citation:
Mental Handicap Research, 8(1), 1995, pp.38-53.
Publisher:
BIMH Publications

An English translation of the 1956 paper in which Prader, Lahart and Willi originally described the syndrome which now bears their name is followed by a discussion of the advances in understanding regarding genetic and behavioural aspects which have occurred during the intervening years.

Journal article

Prader-Willi syndrome and hyperphagia: an update

Author:
STANLEY K.
Journal article citation:
Advances in Mental Health and Intellectual Disabilities, 8(5), 2014, pp.321-330.
Publisher:
Emerald

Purpose: Prader-Willi syndrome (PWS) is a genetic disorder characterised by excessive appetite and progressive obesity. The causes of hyperphagia (the desire to keep eating) are unknown and this has implications on treatment limiting the options available. This paper systematically synthesises the latest evidence regarding all causes as well as management of hyperphagia in people with PWS. Design/methodology/approach: A computer-based literature search, citation tracking and related articles search was undertaken. Primary research studies using genetically confirmed Prader-Willi participants specifically focused on the causes and treatment of overeating was included. Studies were described, critically analysed, presented and discussed in the review. Findings: In total, 18 relevant studies were identified. Nine studies were included in the causes of hyperphagia and focused largely on the roles of secretory hormones, and reward-related areas of the brain. Nine studies were included in the management of hyperphagia and related to physical exercise and food control, antidiabetic agents and weight loss surgery. Originality/value: The causes and the management of hyperphagia are still to be determined despite promising findings. The small number and heterogeneity of the included studies and participants limits conclusions. There is the need for future research to use larger systematic studies to validate findings so far. (Edited publisher abstract)

Journal article

Exploring patterns of unwanted behaviours in adults with Prader–Willi syndrome

Authors:
PIGNATTI Riccardo, et al
Journal article citation:
Journal of Applied Research in Intellectual Disabilities, 26(6), 2013, pp.568-577.
Publisher:
Wiley-Blackwell

Obsessive-compulsive (O-C) traits, and excessive food intake are well known behavioural manifestations among individuals with Prader–Willi Syndrome (PWS). Other unwanted behaviours are also frequently observed, but they need a more specific investigation, especially in the adult population. The behaviour of 31 PWS adults was investigated via the Symptom Checklist-90-Revised (SCL-90-R), the Yale-Brown Obsessive Compulsive Scale Symptom Checklist (Y-BOCS-SC), and the Prader–Willi Behavioural Checklist (PBC). The PBC is a quick screening questionnaire prompted specifically for the investigation on adults with PWS. Statistical clustering revealed two patterns of unwanted behaviours from the PBC. Behaviours belonging to the first cluster (e.g. Excessive food intake, Skin picking) appear to be linked to the usual phenotypic manifestation of PWS. By contrast, many other behaviours (e.g. some O-C symptoms and aggressive actions) could show a relationship also to individual psychopathologies. Both internal (Anxiety and Depression) and external (Hostility) difficulties in managing impulses should account for individually distinct behaviours in adults with PWS. (Edited publisher abstract)

Journal article

The effectiveness of Social Stories™ to develop social interactions with adults with characteristics of autism spectrum disorder

Authors:
SAMUELS Rachel, STANSFIELD Jois
Journal article citation:
British Journal of Learning Disabilities, 40(4), December 2012, pp.272-285.
Publisher:
Wiley-Blackwell

“Social Stories” are a tool designed to help individuals on the autism spectrum better understand the nuances of interpersonal communication so that they can interact in an effective and appropriate manner. However, most research into the effectiveness of Social Stories has focused on children. This study examines the use of Social Stories with four adults with learning disabilities and social communication impairments characteristic of ASD. Each participant was involved in two Social Story interventions. The intervention and data collection was carried out by support staff who knew the participants. Findings indicated that all target behaviours showed positive change during at least one phase of the study, although data indicated a return towards baseline levels across all behaviours into the probe phase. Social Stories had positive effect on improving social interaction in adults with social interaction impairments, even though this effect was short-lived. As the behaviours targeted were long standing, longer intervention which is context-specific may enable more permanent changes to occur. Implications for practice are discussed.

Journal article

Cross-cultural comparisons of obesity and growth in Prader–Willi syndrome

Authors:
DUDLEY O., et al
Journal article citation:
Journal of Intellectual Disability Research, 52(5), May 2008, pp.426-436.
Publisher:
Wiley

The present study reports cross-cultural comparisons of body mass index (BMI) and growth in Prader-Willi syndrome, a neurodevelopmental disorder associated with obesity, growth restriction and mild learning disability. The objectives were to: (1) compare rates of obesity in adults with Prader–Willi syndrome (PWS) in France, with data available from Belgium, the UK and the USA; (2) compare growth of French children with PWS with their counterparts in Germany and the USA; and (3) evaluate the contribution of genetic, medical and social parameters to obesity outcome in French children and adults with PWS. Methods used were: (1) Cross-sectional comparison of BMI of 40 French adults, 38 Belgian adults, 46 British adults and 292 North American adults; (2) Construction of growth curves for French children aged 2–20 years from longitudinal data for 150 individuals with PWS, and comparison with published growth curves from Germany and the USA; and (3) Longitudinal regression analysis of 141 French children and adults to determine the factors contributing to obesity outcome. A total of 82.5% French adults with PWS have BMI > 30 compared with 65.8% in Belgium (n.s.), 58.2% in the USA, and 54.3% in the UK. Higher rates of obesity in females vs. males were found in the USA sample but not in the other samples. In contrast to adults, growth curves for French children with PWS show similar rates of growth compared with children with PWS in Germany and the USA. The principal determining factors of BMI status in the French PWS population are age, cohort (born within the last 15 years vs. born over 15 years ago, and growth hormone replacement therapy. Significant subsidiary effects include domestic situation, genetic diagnosis and age of diagnosis. In conclusion French adults with PWS have significantly higher rates of obesity than adults in the UK and the USA, but growth in French children with PWS is similar to the USA and Germany. Clinical management has a greater impact on obesity outcome in PWS than cultural factors.

Journal article

Prader-Willi syndrome: clinical picture, psychosocial support and current management

Authors:
WIGREN M., HANSEN S.
Journal article citation:
Child: Care, Health and Development, 29(6), November 2003, pp.449-456.
Publisher:
Wiley-Blackwell

Maps the need for psychosocial support and current management of children and adolescents with Prader–Willi syndrome (PWS), a rare, genetically based disorder occurring in about 1 in 15,000 live-born children whose cardinal symptoms include low muscle tone at birth, overeating, motor and speech impairments, delayed pubertal development, cognitive dysfunctions and psychiatric symptoms. To raise a child with PWS is challenging for parents and requires support from multiprofessional habilitation services. Parents of 58 children with PWS aged 5–18 who received their diagnosis at a mean age of 2.5 completed questionnaires covering clinical, diagnostic and psychosocial issues. Growth hormone treatment was given to 72% and 63% were not overweight. Early neuropsychiatric symptoms were common, some related to obesity. Most parents wanted information on availability of external resources and future child needs. Few needed family-directed support. The overall impression is that the disorder is managed relatively well. Even so, PWS symptoms typically exacerbate over time and consequently parents need continuous support throughout childhood and adolescence. Greater attention should be paid to idiosyncrasies in cognitive functioning and to clinical markers of neuropsychiatric problems.

Book

Living with genetic syndromes associated with intellectual disability

Author:
HOGENBOOM Marga
Publisher:
Jessica Kingsley
Publication year:
2001
Pagination:
143p.
Place of publication:
London

Explores the impact of various genetic disorders involving learning disability on children's lives. Conditions examined include Down Syndrome, Williams Syndrome, Angelman Syndrome, Prader-Willi Syndrome, Fragile X Syndrome, Foetal Alcohol Syndrome, Rubenstein-Taybi Syndrome and Wolf-Hirschorn Syndrome. Each chapter describes the physical and psychological characteristics of the syndrome, with case studies.

Journal article

Prader Willi syndrome: systematic review of the prevalence and nature of presentation of unipolar depression

Authors:
WALTON Catherine, KERR Mike
Journal article citation:
Advances in Mental Health and Intellectual Disabilities, 10(3), 2016, pp.172-184.
Publisher:
Emerald

Purpose: The purpose of this paper is to assess the prevalence and nature of presentation of unipolar depression in individuals with Prader-Willi syndrome (PWS). Design/methodology/approach: The Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) (2009) checklist for systematic reviews was followed where possible. Findings: Seven studies were included in the qualitative synthesis from a total of 261 records identified. The quality of the studies was then assessed: scores for each study design ranged from between 3 and 6 of a possible score total of 6. The frequency of depression ranged between studies from 4 to 22 per cent. four studies showed over 50 per cent of patients appeared to suffer from psychotic symptoms. Low mood, anhedonia and irritability were described as features of depression, although no fixed pattern of psychopathology arose from across the studies (excluding psychosis). This review has provided evidence to suggest that depression is a frequent occurrence in the PWS population. One study found that the incidence of depression differed between the genetic subtypes, raising questions regarding the relationship between genotype and behavioural phenotypes. A high proportion of individuals with depression suffered from psychotic symptoms. Research limitations/implications: The small number of heterogeneous studies included in this study precluded meta-analysis of the results. This highlights the need for further original research in this field. Practical implications: An increased awareness of the frequency of depressive symptoms within the PWS population will aid in the timely diagnosis and management of the disorder which will reduce psychiatric morbidity. The noted high proportion of psychotic symptoms associated with depression should raise the index of suspicion with clinicians and aid appropriate management decisions. Originality/value: This review has provided preliminary evidence for the nature of presentation of unipolar depression in PWS. It has highlighted the possibility of an increased propensity towards depression with psychotic symptoms. There is some suggestion of a differing presentation and course of unipolar depression between the common genetic subtypes of PWS which warrants further investigation. (Publisher abstract)

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