Prader-Willi Syndrome

By:  Catherine Joachin

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What is Prader-Willi syndrome? 

Prader-Willi syndrome (PWS) is a genetic disorder characterized by major metabolic changes such as hyperphagia and insatiable hunger. (Mayo Clinic, 2018). The condition is caused by congenital chromosome 15 dysfunction originating from errors in the expression of paternal genes (Cleveland Clinic, n.d.). These genetic changes impair the hypothalamus’ ability to regulate satiety, mood, sleep, and growth, which subsequently gives rise to numerous behavioral, physical, and metabolic changes (Mayo Clinic, 2018).

Symptoms of Prader-Willi syndrome 

Poor muscle tone in early childhood (neonatal hypotonia) is a defining characteristic of Prader-Willi syndrome (Driscoll et al., 2023). In infancy, this is exhibited by lethargy (tiredness), feeding difficulties, poor sucking, and a weak cry (Cleveland, n.d.).

With age, distinctive physical features of Prader-Willi syndrome become more apparent. These  include:

• Short stature

• Almond-shaped eyes

• Underdeveloped genitals

• Small hands and feet

• Narrow nasal bridge

• Narrow forehead

• Thin upper lip and downturned mouth

(Cleveland Clinic, n.d.)

People with this condition might also have to deal with developmental and behavioral issues such as mild learning or intellectual difficulties, abnormal pubertal development, sleep problems, cognitive developmental delays, compulsive behavior (e.g. incessant eating),  tantrums and emotional outbursts (Cleveland Clinic, n.d.).

Hyperphagia can contribute to uncontrolled eating and morbid obesity. This leaves people at risk of developing life-threatening obesity-related complications such as respiratory illnesses,  cardiovascular problems, sleep apnea, and diabetes (Driscoll et al., 2023).

Management and Treatment 

Prader-Willi syndrome is estimated to affect roughly 1 in every 10,000 to 30,000 individuals  (Cleveland Clinic, n.d.; Driscoll et al., 2023). It is a life-long condition with no existing cure, but there are strategies and interventions that can mitigate symptoms and avoid complications. A  typical treatment plan may include the following:

• The use of special bottle nipples or tubes to ensure that babies with feeding difficulties receive proper nutrition.

• Growth hormone therapy, which normalizes height, lean body mass, and mobility.

• In the adult population, antidepressant medication can be prescribed to reduce obsessive-compulsive symptoms.  

 • Targeted therapy, which can improve physical, behavioral, and/or emotional function.

(National Institute of Child Health and Human Development, 2021)

Strict monitoring and regulation of food intake can prevent unwanted behaviors such as stealing and hoarding from developing. In combination with a balanced, low-calorie diet and regular exercise, this approach can combat rapid gain weight and obesity. In cases where these guidelines cannot be followed at home, an adult with this condition may be placed in a  group home, where adequate supervision and prevention methods against compulsive eating can be provided (National Institute of Child Health and Human Development, 2021).

Surgical procedures targeting obesity are discouraged because they do not counter food-seeking behavior, meaning that unregulated eating will persist following the operation  (National Health Service, 2022).

Prader-Willi syndrome and Epilepsy 

There are discrepancies regarding the characteristics of epileptiform discharges and electroencephalographic abnormalities in the brains of individuals with Prader-Willi syndrome; however, studies suggest that the prevalence of epilepsy in this population ranges from 4 to  26% [Verrotti et al., 2014].

While focal and generalized discharges are more frequently reported than any other abnormal  EEG activities, the most reported phenotype is focal epilepsy [Verrotti et al., 2014]. That said,  electrographic seizures can occur in youth with no history of epilepsy [Gilboa & Gross-Tsur],  2013]. A 2022 case study recorded electrical status epilepticus during slow-wave sleep (ESES)  in a 5-year-old girl, marking the first instance of prolonged seizures in relation to Prader

Willi syndrome [Ergun-Longmire, Nguyen & Com, 2022]. Studies have revealed that epilepsy in  Prader-Willi syndrome patients is very manageable, and seizures can be easily treated with antiepileptic monotherapy [Verrotti et al., 2014].

There have been reports suggesting that the disorder increases the risk of sleep disorders and narcolepsy, however, there is no evidence suggesting that PWS is associated with a specific predilection of epilepsy [Gilboa & Gross-Tsur, 2013].


Prader-Willi syndrome is a rare condition caused by a genetic anomaly. People with this disorder typically experience muscle weakness, a delay in developmental milestones, and a  constant feeling of hunger on top of various other physical, cognitive, and behavioral symptoms. Early intervention and comprehensive care are important for managing symptoms,  avoiding life-threatening ramifications, and improving the quality of life of these individuals.  People with Prader-Willi syndrome are also at higher risk of developing epilepsy compared to the general population, but their seizures can efficiently be controlled with anticonvulsant drug treatment.


Prader-Willi Syndrome. (n.d.). Cleveland Clinic. diseases/21016-prader-willi-syndrome#management-and-treatment

Driscoll, D. J., Miller, J. L. & Cassidy, S. B. (2023). Prader-Willi Syndrome. National  Library of Medicine.

Ergun-Longmire, Nguyen, M. H. N., & Com, G. (2022). Electrical status epilepticus  during sleep in a child with Prader-Willi syndrome: a case report. AME Case Reports, 6, 7–7.

 Gilboa, & Gross-Tsur, V. (2013). Epilepsy in Prader–Willi syndrome: experience of a  national referral centre. Developmental Medicine and Child Neurology, 55(9), 857–861. https://

What are the treatments for Prader-Willi syndrome (PWS)? (2021). National Institute of  Child Health and Human Development. health/topics/prader-willi/conditioninfo/treatments

Verrotti, Soldani, C., Laino, D., d’Alonzo, R., & Grosso, S. (2014). Epilepsy in Prader Willi syndrome: clinical, diagnostic and treatment aspects. World Journal of Pediatrics: WJP,  10(2), 108–113.

Management — Prader-Willi syndrome. (2022). National Health Service. https://

Prader-Willi syndrome – Symptoms and causes. (2018). Mayo Clinic. https://

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