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Quality of life and the need for respite care for those with rare genetic disorder

Our researchers at the School of Medicine in Trinity College Dublin, along with a research team from Children’s Health Ireland (CHI) at Tallaght University Hospital, evaluated the impact of rare genetic disorder Prader-Willi syndrome on the quality of life of the affected child and their family. Prader-Willi Syndrome is a complex genetic condition which causes neurological, hormonal, behavioural, developmental and cognitive problems. The condition was first described in 1956 and is caused by the absence of certain genes on chromosome 15. It can lead to excessive eating and life-threatening obesity, as well as obsessive/compulsive behaviours. More than 100 cases of this syndrome have been diagnosed in Ireland.

In a survey of caregivers of children ranging from less than 1 year to 18 years, dietetic and paediatric researchers investigated the impact of weight gain on health and wellbeing in patients with Prader-Willi syndrome. Speaking about the study, senior author Trinity College Dublin Professor of Paediatrics Edna Roche said: “We found that Prader-Willi syndrome impacts significantly on quality of life in both the affected child and the family. In addition, we found that quality of life in the patient and the entire family is negatively impacted by increased weight.

Results showed that parents of teenage children with Prader-Willi syndrome reported an increased burden of care made worse by psychological difficulties, and when the child’s routine or social activities were disrupted and restricted. The study highlighted the need for appropriate respite services for affected families. Professor Roche explained: “Provision of appropriate respite care for children and young people with Prader-Willi Syndrome along with increased support for their families will not only enhance the healthcare outcomes of affected patients, it will improve their quality of life and that of their families. Importantly it will also enable families to continue to provide care within the home environment.

Speaking about the research and clinical service at CHI, Professor Roche said: “We are grateful for the support of Dr Ciara Martin (Executive Lead at CHI) as well as Dr Turlough Bolger (Clinical Director) for their continued support of the Prader-Willi Syndrome service at CHI, Tallaght. We are very grateful to the children and families who participated in this study.

The study was financially supported by the National Children’s Hospital Foundation and was a collaboration between researchers at the Department of Nutrition & Dietetics and the Department of Paediatric Growth, Diabetes and Endocrinology in CHI Tallaght, as well as the Department of Paediatrics at the School of Medicine, Trinity College Dublin.

Commenting on the research, Marguerite Hughes from the International Prader-Willi Organisation said: This study is a welcome addition to the growing volume of research highlighting the impact of Prader-Willi syndrome on quality of life and the need for support, not alone to children with the syndrome, but also their parents and entire families.  Ms Hughes explained: “The impact on families points to a clear need for social care services (such as respite) to be provided to families at an early stage. The complex needs of children with Prader-Willi syndrome also suggest that social care services must be tailored specifically to the needs of people with the syndrome to be effective.

More information on this condition can be accessed at www.pwsai.ie. The study was published in Acta Paediatrica in December 2020. (Full citation: Meade C, Martin R, McCrann A, Lyons J, Meehan J, Hoey H, Roche E. Prader-Willi Syndrome in children: Quality of life and caregiver burden. Acta Paediatr. 2020 Dec 30. DOI:10.1111/apa.15738