Dubai Health, the first integrated academic health system in Dubai, has joined forces with the Angelman Syndrome Foundation to launch the Gulf Cooperation Council’s (GCC) first dedicated clinic for Angelman syndrome at Al Jalila Children’s Hospital. This groundbreaking initiative aims to enhance care for patients with this rare neurological disorder and increase awareness among medical professionals.
The clinic will serve as a centralised hub for patients, families, and caregivers to access specialist healthcare professionals and evidence-based care. This development is particularly significant given the rarity of Angelman syndrome, which affects approximately one in 500,000 people worldwide.
Dr Abdulla Al Khayat, CEO of Al Jalila Children’s Hospital, commented: “This crucial partnership is a beacon of hope for patients and families affected by this rare condition. By ensuring that we deliver the highest standard of care and driven by our Patient First promise, we hope to empower Angelman Syndrome patients and their families to lead fulfilling lives.”
Clinical presentation and genetics
Angelman syndrome is characterised by significant developmental delays, particularly in motor skills and speech. Patients typically present with:
- Delayed walking and balance issues by 12 months of age
- Seizures
- Absent speech
- An apparent happy demeanour with frequent laughter and excitability
The condition is caused by a loss of function in the maternal UBE3A gene on chromosome 15. It shares some symptomatic overlap with autism, cerebral palsy, and Prader-Willi syndrome, potentially complicating diagnosis.
Advancing research and treatment
Through Dubai Health’s integrated academic health system, the clinic aims to enhance future treatment options by leveraging ongoing education and research initiatives. This collaborative effort seeks to address the current lack of curative treatments, focusing instead on managing associated clinical findings.
Amanda Moore, CEO of the Angelman Syndrome Foundation, commented: “This clinic will offer families in the UAE access to professionals with deep knowledge of Angelman Syndrome, expertise that has traditionally been challenging to locate. Raising awareness of rare conditions like Angelman Syndrome is crucial for early diagnosis and better patient outcomes.”
To learn more, visit: www.Angelman.org
