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Phelan-McDermid Syndrome
Phelan-McDermid syndrome is a rare genetic disorder caused by a deletion or mutation of the SHANK3 gene on chromosome 22q13.3. The condition affects neurological development and is characterized by absent or severely delayed speech, intellectual disability, low muscle tone, and features that frequently overlap with autism spectrum disorder. Additional characteristics can include poor temperature regulation, reduced perception of pain, sleep disturbances, and a generally happy and sociable demeanor despite significant developmental challenges. The syndrome affects males and females equally and presents across a wide spectrum of severity.
Many individuals with Phelan-McDermid syndrome also have a high tolerance for pain and reduced sensory perception, meaning they may not recognize or communicate when they are becoming dangerously overheated. This creates a significant safety concern, particularly for children and non-verbal individuals who cannot report discomfort or ask for cooling assistance. Caregivers and parents often bear the responsibility of monitoring and managing body temperature on behalf of the individual, making external cooling tools especially practical and important in this context.
"Our daughter has a very rare genetic deletion called 22q13 or Phelan McDermid Syndrome. Body temperature regulation is affected by this and if it's over 80° Fahrenheit outside she can only spend a few minutes out. This phase change Stay Cool 58 Cool Kids Cooling Vest has helped greatly. She was able to watch her brother play baseball games thanks to this technology." - William in Alabama
"Thank you so much, we love the product. Having a way to keep my son's body temperature regulated in hot weather has been life changing for us and lots of parents with children who have Phelan-McDermid Syndrome." - Chardell in FL
The information on this site is not intended or implied to be a substitute for professional medical advice, diagnosis or treatment. Please consult a licensed healthcare practitioner before using any hot/cold therapy or body cooling product for a medical condition.
