Awareness

Gross motor skills can be challenging for those with PWS. Infants typically demonstrate hypotonia leading to a delay in the achievement of gross motor milestones. Sitting is usually around 12 months, walking at 24 months. Developmental skills should be closely monitored and Early Intervention should begin as soon as possible. Overeating and obesity may become …

Orthopedic issues in PWS are common. Per the Global PWS Registry, 46% of participants age 2 and older report a spinal deformity, such as scoliosis, kyphosis (rounded/hunch back), or lordosis (sway back). Additional skeletal problems including ‘knock knees’, ‘bow legs’ and hip dysplasia occur at higher frequency in the PWS population compared to the typical …

Temper outbursts and disruptive behaviors are among the most challenging aspects of PWS, both for the individual with PWS and their family. These behaviors can severely limit the entire family’s ability to do many of the things most of us take for granted, like going to restaurants, or attending family events. Many people with Prader-Willi …

Caregivers of people with Prader-Willi Syndrome often experience compassion fatigue. Caregiver stress is often at its highest when the person with PWS is between 12 and 30 years old and often exceeds that of caregivers for traumatic brain injury and Alzheimer disease. The ‘burden’ of disease is of great interest to the FDA as they …

According to the PWS Global Registry, 50% of participants are near sighted, 40% have strambosis, 29% have astigmatism, and 25% are far sighted. Clementine was born with a strabismus. Strabismus is a condition in which a person’s eyes are not correctly aligned. Often referred to as “lazy eye,” strabismus typically presents itself with one eye …

Individuals with PWS present with speech and language deficits. 88% of Global PWS Registry participants had participated in speech therapy. The speech and language skills of individuals with Prader-Willi syndrome are reported to be below expectations based on intellectual levels. Although great variability exists in the speech and language skills of individuals with Prader-Willi syndrome, …

Excessive daytime sleepiness ( EDS), also called hypersomnia, affects many individuals with PWS. According to the Global PWS Registry, approximately 46% of respondents experience this condition. There are other sleep disorders that frequently occur in our population as well.They are issues like early waking ( 31%), lack of REM sleep ( 9%), Cataplexy ( 9%) …

It is widely recognized that choking is an issue in PWS. 18% of registry participants have had a choking incident. Of these choking incidents, 50% were severe enough to use the Heimlich maneuver. In addition, concerns around choking continue well past the toddler years. When specifically looking at data for participants who have had a …

Early interventions such as OT, PT and growth hormone can improve the outcome of PWS. Data reported from the global registry indicates that babies with PWS are hitting their motor milestones earlier than previously documented. This is likely a reflection of earlier diagnosis and more infants receiving growth hormone therapy. There has not been a …

People with PWS may have an increased risk of developing dangerous blood clots. Deep vein thrombosis (DVT) happens when blood clots form in the deep veins of the legs. Those blood clots can ultimately break loose, travel through the bloodstream, and become lodged in the lungs, causing pulmonary embolism. DVT’s are the 4th leading cause …