Medical, psychological and social features in a large cohort of adults with <scp>P</scp>rader–<scp>W</scp>illi syndrome: experience from a dedicated centre in France

Laurier, Virginie; Lapeyrade, A.; Copet, P.; Demeer, Geneviève; Silvie, M.; Bieth, Éric; Coupaye, Muriel; Poitou, Christine; Lorenzini, F.; Labrousse, F.; Molinas, Catherine; Tauber, Maïthé; Thuilleaux, Denise; Jauregi, J.

doi:10.1111/jir.12140

Cited by 56 publications

(68 citation statements)

References 29 publications

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“…In one cohort data in UK, the mean age of onset was 20 years and the prevalence was around 25% (16/66) 10) . A large population-based adult cohort study in France has shown similar results such as 25% of T2DM prevalence and mean onset of age of 24 years 11) . Otherwise, in one cohort of 83 PWS patient in South Korea (Samsung Medical center) , the prevalence of PWS with T2DM was reported as 32.5%, which was higher than in other European countries, while the mean onset of age, 21.4 years-old, was shown similar finding with others country (unpublished data, 2015 year).…”

Section: Epidemiology Of Diabetes In Pwssupporting

confidence: 50%

An Update on Prader-Willi Syndrome with Diabetes Mellitus

Lee¹

2016

Journal of mucopolysaccharidosis and rare disease

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Prader-Willi syndrome (PWS) often develops type 2 diabetes mellitus (T2DM) related to severe obesity. The prevalence of T2DM in adults with PWS (7-20%) exceeds greatly the prevalence in the general population (5-7%). It is uncommon for pre-pubertal children with PWS to develop overt diabetes or glucose intolerance. GH therapy and genotype did not influence the development of altered glucose metabolism. It has been assumed that T2DM in PWS develops as a consequence of morbid obesity and concomitant insulin resistance. However recent studies suggest the relationship between morbid obesity and T2DM development is more complex and appears to differ in PWS subjects compared to non-PWS subjects. PWS patients had relatively lower fasting insulin levels and increased adiponectin levels compared with BMI-matched obese control despite of similar levels of leptin. So PWS children may be protected to some extent form of obesity-associated insulin resistance. Although there's no data, it seems logical to approach diabetes management including weight loss and increased exercise, using similar pharmacological agents as with non-PWS obesity-related diabetes such as metformin or thiazolidinedione, with the introduction of insulin as required. On the other hand, several recent T2DM in PWS case reports suggest favorable outcomes using Glucagon-like peptide 1 (GLP-1) analog with regard to ghrelin reduction, control of glucose and appetite, weight loss and pre-prandial insulin secretion. The role of GLP-1 agonist therapy is promising, but has not yet been fully elucidated.

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Section: Epidemiology Of Diabetes In Pwssupporting

confidence: 50%

An Update on Prader-Willi Syndrome with Diabetes Mellitus

Lee¹

2016

Journal of mucopolysaccharidosis and rare disease

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“…<25%; Cans et al, 1999) of those with intellectual disabilities requiring postural care will have cerebral palsy. Indeed, a number of specific conditions related to intellectual disabilities may result in the need for postural care (Ager et al, 2006;Burns, Powell, Hsia, & Reinker, 2003;Butler et al, 2002;Damasceno, Cristante, Marcon, & Barros Filho, 2014;Detweiler, Thacker, Hopkins, Conway, & Gripp, 2013;Imagama et al, 2013;Karmaniolou, Krishnan, Galtrey, Cleland, & Vijayaraghavan, 2015;Kerr, Webb, Prescott, & Milne, 2003;Laurier et al, 2015;Li, Shen, Liang, & Sheng, 2015;de Lind van Wijngaarden, de Klerk, Festen, & Hokken-Koelega, 2008;Takebayashi et al, 2006).…”

Section: Introductionmentioning

confidence: 99%

Postural care for people with intellectual disabilities and severely impaired motor function: A scoping review

Robertson

Baines

Emerson

et al. 2016

Research Intellect Disabil

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Background: Poor postural care can have severe and life-threatening complications.This scoping review aims to map and summarize existing evidence regarding postural care for people with intellectual disabilities and severely impaired motor function.Method: Studies were identified via electronic database searches (MEDLINE, CINAHL, PsycINFO and Web of Science) covering January 1990 to March 2016, and email requests to researcher networks. Results were collated via descriptive numerical summary of studies and thematic analysis. Results:Twenty-three studies were identified and summarized narratively in relation to three themes: characteristics and prevalence, interventions and service related issues. The evidence base is small with significant gaps. Lack of evidence for nighttime positioning equipment and 24-hr postural care needs to be addressed urgently. Conclusion:Future research should be clearly directed towards ascertaining how best postural care interventions can be employed to help improve the health and quality of life of people with intellectual disabilities. K E Y W O R D Sintellectual disabilities, postural care, scoping review |Published for the British Institute of Learning Disabilities ROBERTSON ET al. posture also underpin the ability to function and access the environment (Crawford & Stinson, 2015).Over the past 15 years, there has been increased awareness of the need to provide postural care over the entire 24-hr period. This usually involves adaptive seating and/or moulded wheelchairs; night-time positioning equipment (NTPE); moving and handling techniques; and advice and training across all settings that the person accesses (Crawford & Stinson, 2015). NTPE can be used during the substantial proportion of the day when the person is in bed and has been reported to be beneficial even for those with established body shape distortion (Goldsmith, 2000).It has been proposed that most people who lack the ability to change their position would benefit from 24-hr body positioning (Crawford & Stinson, 2015) and that 24-hr postural care strategies should be considered in physical therapy programmes to prevent or delay the development of contractures or skeletal deformities in children and young people at risk of developing these (National Institute for Health & Care Excellence, 2012). However, disabled children generally are not being provided with the specialist equipment they require (such as seating and postural support systems), with provision of equipment being patchy at best (Centre for Economics and Business Research, 2014). It is widely accepted that the current systems that provide equipment and related services to children fail (CSED Consultant's Report, 2010).The importance of the issue of postural care in relation to people with intellectual disabilities has been highlighted in a number of reports noting gaps in services and the need to provide postural care interventions to prevent postural deformities from developing (Heslop et al., 2013;Mansell, 2010;Michael, 2008, RCGP, 2012. No systematic...

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“…However, it may also be hypothesised that some individuals outside of the patient association are coping well and thus do not necessarily feel the need to be involved with a patient association. However, the characteristics of our population in terms of age and treatments received (invasive ventilation, GH or other endocrine treatments or psychotropic drugs) are close to those of the population suffering from PWS hospitalised in a dedicated centre in France (Laurier et al 2015).…”

Section: Discussionmentioning

confidence: 85%

“…However, the characteristics of our population in terms of age and treatments received (invasive ventilation, GH or other endocrine treatments or psychotropic drugs) are close to those of the population suffering from PWS hospitalised in a dedicated centre in France (Laurier et al . ).…”

Section: Discussionmentioning

confidence: 97%

Economic burden and health‐related quality of life associated with Prader–Willi syndrome in France

Chevreul

Brigham

Clément³

et al. 2016

J intellect Disabil Res

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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.

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Medical, psychological and social features in a large cohort of adults with Prader–Willi syndrome: experience from a dedicated centre in France

Cited by 56 publications

References 29 publications

An Update on Prader-Willi Syndrome with Diabetes Mellitus

An Update on Prader-Willi Syndrome with Diabetes Mellitus

Postural care for people with intellectual disabilities and severely impaired motor function: A scoping review

Economic burden and health‐related quality of life associated with Prader–Willi syndrome in France

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