Prader-Willi is the most common syndromic form of obesity and caused by absence of a portion of chromosome 15. Prader-Willi is not extremely common affecting only 350,000-400,000 individuals across the world. In the United States, prevalence falls between 1/16,062 and 1/25,000. Furthermore, Prader-Willi is seen to affect males and females equally. For the most part, Prader-Willi occurs spontaneously as a genetic defect during the embryologic stages of pregnancy.
Interestingly, the symptoms and presentation of Prader-Willi change with age and the article discusses the importance of identifying early signs and symptoms while the patient is still a neonate. Early diagnosis has been shown to help the child and family adapt and address associated concerns to improve long term quality of life.
In the neonatal state, hypotonia is one of the hallmark features associated with Prader-Willi. Neonates exhibit difficulty feeding, genital hypoplasia and hypopigmentation of the skin, eyes and hair. As the child ages, infants and toddles ‘demonstrate late acquisition of major milestones.’ In later childhood and adolescence, ‘pubic and axillary hair may grow in prematurely and secondary sexual characteristics are delayed or incomplete.’ Finally, as these children reach adulthood, obesity and its complications affect the lives of those diagnosed (including, cardiovascular problems, diabetes mellitus and sleep apnea). Historically patients with Prader-Willi have a shortened life-span but the advances in medical technology has improved life expectancy.
The patient in question is a 34 week premature female, with Intrauterine Growth Restriction, who appeared small for gestational age on day 43 of life in the NICU. There were increasing concerns for her poor feeding abilities and lack of weight gain. A DNA methylation was sent to an external lab for evaluation of Prader-Willi Syndrome.
The article attached discusses the importance of early diagnosis of Prader-Willi Syndrome and the proven benefit of such leading to better outcomes in quality of life. While it is already known that early diagnosis helps with the appropriate management of Prader-Willi, this article specifically adds value with the discussion of associated emotional factors that come into play with this diagnosis.
The article highlights the importance of early identification of PWS and reiterates the value of recognizing the symptoms together to aid in the diagnosis. When a majority of the symptoms listed (preterm birth, low birth weight, small for gestational age babies combine with hypoxia, hypogonadism and feeding difficulties) are found for one child it is imperative that providers immediately consider PWS as a diagnosis and order the appropriate testing. The value in an early diagnoses allows providers to formulate a care plan and ‘reduce the period of hospitalization,’ which helps in the child’s ability to thrive and the family’s comfort level and formulation of a plan to treat their child.
Download the article: NICU Prader-Willi Journal Article
https://www.uptodate.com/contents/epidemiology-and-genetics-of-prader-willi-syndrome
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