A Review of Prader–Willi Syndrome

Abstract

Prader–Willi Syndrome (PWS, OMIM #176270) is a rare complex genetic disorder due to the loss of expression of paternally derived genes in the PWS critical region on chromosome 15q11-q13. It affects multiple neuroendocrine systems and may present failure to thrive in infancy, but then, hyperphagia and morbid obesity starting in early childhood became the hallmark of this condition. Short stature, hypogonadism, sleep abnormalities, intellectual disability, and behavioral disturbances highlight the main features of this syndrome. There have been a significant number of advances in our understanding of the genetic mechanisms underlying the disease, especially discoveries of MAGEL2, NDN, MKRN3, and SNORD116 genes in the pathophysiology of PWS. However, early diagnosis and difficulty in treating some of the disease’s most disabling features remain challenging. As our understanding of PWS continues to grow, so does the availability of new therapies and management strategies available to clinicians and families.

From Feeding Challenges to Oral-Motor Dyspraxia: A Comprehensive Description of 10 New Cases with CTNNB1 Syndrome

“…Interestingly, in contrast to other reported conditions in which a slow but gradual improvement in the acquisition of complex feeding skills is appreciable [28], in the present cohort of patients, a mature chewing pattern was never developed. In addition, we noticed a scarce coordination in fine movements of the oral-facial muscles not only during the preparatory phase of swallowing, but also during the execution of oral-facial praxis and speech.…”

Truncated variants of MAGEL2 are involved in the etiologies of the Schaaf-Yang and Prader-Willi syndromes

“… 1 , 4 Clinical features of PWS are developmental delay, hypotonia, endocrine dysfunction, intellectual disability, and in particular hyperphagia resulting in severe obesity. 5 …”