There are many reasons why medical research is important. It helps to amplify the patient voice, improve disease-related knowledge, and determine potential treatment goals. Additionally, medical research provides insight into how specific conditions played a role in symptom development. Recently, a study centered around Prader-Willi syndrome (PWS) determined a new link between the rare genetic disorder and lower urinary tract dysfunction. According to Prader-Willi Syndrome News, researchers determined that Prader-Willi syndrome often manifests in urinary and bladder dysfunction in pediatric patients. Interested in learning more? You can check out the full study findings published in Neurourology and Urodynamics.

Urinary Dysfunction

In prior studies, such as this one published in BJU International, researchers determined that 13.6% of respondents had children with PWS who experienced bed-wetting. An additional 3.8% had children who experienced urinary incontinence. But despite this study, there were still few links or objective tools to understand how lower urinary tract dysfunction affected pediatric patients with PWS.

According to Ran Pang, lower urinary tract dysfunction consists of either storage, voiding, or post-micturition symptoms. He describes that:

Storage symptoms include urinary urgency, increased daytime frequency, nocturia, and different types of urinary incontinence, [while] voiding symptoms include slow stream, splitting or spraying of the urine stream, intermittency, hesitancy, straining to void, and terminal dribble. Post-Micturition symptoms include feeling of incomplete emptying and post-micturition dribble.

In pediatric patients, the most frequent symptoms of bladder dysfunction include incontinence, distractions to prevent urination, and a sudden and urgent need to urinate.

The Research

For this study, researchers wanted to use uroflowmetry, post-void residual urine (PVR), and other tools to understand how many pediatric patients (children, adolescents, and young adults) with PWS experienced urinary-related symptoms. 37 patients enrolled. Of these, 15 (40.5%) were male and 22 (59.5%) were female. The mean age was 17.7 years old. Additionally, many patients were considered overweight, and 8 patients (21.6%) had diabetes. Through the study, researchers determined that:

• 13 patients (35%) showed some abnormal urine flow. Causes ranged from urinary obstructions and hyperactive bladders to overactive sphincters.
• 10 patients (30%) had a low peak flow rate which indicated lower urinary tract dysfunction.
• Altogether, after evaluating all data, 17 patients of the 34 that completed uroflowmetry (50%) had urinary abnormalities.
• After separating the groups into symptomatic vs. asymptomatic patients, researchers determined that those who showed symptoms had less bladder capacity.
• Even if patients are asymptomatic, lower urinary tract dysfunction remained common in patients with PWS.

Prader-Willi Syndrome (PWS)

Prader-Willi syndrome (PWS) is a rare genetic disorder caused by chromosome 15-related genetic errors. For example, patients with PWS can have missing paternal genes; two copies of maternal chromosome 15; or other paternal genetic errors. Because of these genetic issues, the hypothalamus, or the area of the brain which releases hormones, does not function properly. As a result, this multi-system disorder causes a range of physical, mental, behavioral, and health issues. PWS occurs in an estimated 1 in every 15,000 births. The condition affects both males and females equally. Additionally, those of all racial and ethnic backgrounds can have PWS.

Altogether, signs and characteristics of PWS vary in severity and presentation, and may progressively change from childhood to adulthood. For example, symptoms of PWS around infancy include:

• “Floppy” muscle tone
• A weak cry
• Poor sucking reflex
• Underdeveloped genitalia
• Motor delays
• Failure to thrive

Beginning at around age 2, many patients begin improving in strength and muscle tone. However, as children move into early childhood and into adulthood, additional symptoms appear. Between ages 3 and 8 years old, patients’ symptoms include:

• Hyperphagia (never feeling full/unregulated appetite)
• Low metabolism
• Constant eating and related weight gain
• Scoliosis (abnormal curvature of the spine)
• Learning or intellectual disabilities
• A narrow forehead, a triangular mouth, and almond-shaped eyes
• Short stature
• Sleep disturbances, including excessive daytime sleepiness
• Difficulty with emotional regulation
• Obsessive-compulsive behaviors, such as skin-picking
• Poor growth and physical development
• Cognitive and motor delays
• Small hands and feet
• Infertility
• Speech difficulties

Learn more about Prader-Willi syndrome.