Dietary and nutritional intervention of Prader-Willi syndrome / 中华实用儿科临床杂志

ABSTRACT

Prader-Willi syndrome is a rare and treatable disease, that is also known as hypotonia-dysgnosia-gonadal dysplasia-obesity syndrome.It is the first recognized imprinted condition due to parental chromosome 15 defect.The clinical symptoms of patients with Prader-Willi syndrome change continuously with age because of multiple organ damages, mainly including hypotonia, feeding difficulty in infancy, overeating and progressive obesity from early childhood, gonadal dysplasia, short stature in adulthood, metabolic syndrome and cognitive behavioral disorders, etc.There are consensus clinical diagnostic criteria and molecular genetics diagnostic methods in domestic and international research.However, the individualized endocrine and metabolic treatment are necessary for Prader-Willi syndrome.Life-long dietary treatment and nutritional intervention are very important to comprehensive treatment of patients with Prader-Willi syndrome, which are cheap and convenient to improve their metabolic condition.The dietary and nutritional intervention can effectively reduce obesity and complications, improve the prognosis and the quality of the life of the patients with Prader-Willi syndrome.Now, the age-related nutritional phases in the patients with Prader-Willi syndrome, the principle and applicable approaches of dietary and nutritional intervention for each phase, as well as long-term follow-up of nutritional status were discussed.