15q conditions-DUP15Q, Prader-Willi Syndrome (PWS),Angelman Syndrome
Prader-Willi Syndrome (PWS)
Is a rare and complex genetic disorder affecting approximately 1 in every 15,000 births. It arises from an abnormality on chromosome 15, leading to dysfunction in the hypothalamus—a part of the brain that regulates hunger, hormones, and other vital functions. Infants with PWS often exhibit low muscle tone (hypotonia), weak feeding reflexes, and delayed development. As children grow, they typically develop hyperphagia, a chronic and insatiable hunger that, if unmanaged, can result in life-threatening obesity. Other common features include short stature, learning difficulties, behavioral challenges, and hormonal imbalances. While there’s no cure, early diagnosis and comprehensive care—including growth hormone therapy, nutritional management, and behavioral support—can significantly improve quality of life. PWS affects individuals of all genders and ethnicities equally and remains the most common genetic cause of life-threatening childhood obesity.
Dup15q syndrome
Is a rare and complex neurodevelopmental disorder caused by an extra copy of genetic material on chromosome 15. It most commonly arises from a maternal duplication of the 15q11.2–13.1 region and affects approximately 1 in every 20,000 births. This condition disrupts the function of key genes involved in brain development, leading to symptoms such as low muscle tone (hypotonia), developmental delays, autism spectrum disorder, intellectual disability, and epilepsy. Some individuals experience infantile spasms and behavioral challenges. While there is no cure, early diagnosis and intervention—including therapies tailored to physical, speech, and behavioral needs—can improve quality of life. Dup15q syndrome affects individuals of all genders and ethnicities and remains one of the more common chromosome-related causes of autism and epilepsy.
Angelman Syndrome (AS) is a rare neurological disorder affecting approximately 1 in 20,000 births. It is caused by disruptions to the UBE3A gene on chromosome 15, which is crucial for brain function. In individuals with AS, the maternal copy of this gene is inactive or missing, leading to developmental delays, severe learning difficulties, minimal or absent speech, and challenges with movement and balance. Despite these challenges, individuals with AS often exhibit a happy demeanor, frequent smiling, and laughter. While there is currently no cure, early intervention and supportive therapies can significantly improve quality of life. AS was first identified in 1965 by British doctor Harry Angelman, who noted common features among several children under his care, inspiring the name of the syndrome.
Source:https://www.angelmanuk.org/what-is-angelman-syndrome/
Support for Prader Willi Syndrome
Facebook group which is run by FPWR UK called PWS Circle. (https://www.facebook.com/share/g/16SeGDwujU/?mibextid=wwXIfr)
In addition to our main groups, there are two private communities available by referral: ‘Lovebugs of the UK and Ireland (PWS)’ and ‘Superstars of the UK and Ireland’. These groups are hidden for privacy reasons and can only be accessed through an invitation from an existing member.
Lovebugs is for families from birth onwards, while Superstars is for children aged 5 and up. If you’d like to join either group, we’d be happy to help with a referral—just let us know!
Angela Saunders(Angie),is now a full-time mum and carer. Angie became involved with FPWR UK because of her strong belief in the power of research to improve the lives of those with PWS—through better treatments, therapies, and understanding. She’s passionate about connecting with others in the PWS community and is always happy to offer support, share experiences, or simply have a chat with anyone affected by PWS.
Angie can be contacted at: angie@fpwr.org.uk
