Angelman syndrome (AS) is a neurogenetic disorder that occurs in approximately one in 15,000 live births. Often misdiagnosed as autism or cerebral palsy, it appears in newborns, causes severe neurological impairment, and lasts for a lifetime. Individuals experience a lack of speech, walking and balance disorders, developmental delay, and seizures. They also typically present a happy and excitable manner.
The ASF clinics provide one-of-a-kind support for individuals with AS and their families. The goal of these clinics is to increase the quality of life for people with AS and to decrease the frequency and severity of AS symptoms, which can include behavioral problems, sleep disorders, and seizures. The medical teams at the clinics also work with families to design educational programming for individuals with AS in order to help optimize their full developmental potential.
“The ASF clinics provide vital, life-changing – and often life-saving – care for children of all ages. No other resource like this exists for AS families, so to broaden the network internationally is critical for families around the world,” said Eileen Braun, Executive Director of the Angelman Syndrome Foundation and mother to a young woman with AS.
The ASF partners with leading medical and research facilities to ensure that AS patients benefit from the comprehensive care that they need throughout all stages of life, from infancy to adulthood. The clinics’ medical teams participate in many cutting-edge clinical trials and research protocols. At present, they are developing the first recognized standards of care for AS.
The Angelman Syndrome Clinic in the Safra Children’s Hospital at Sheba Medical Center in Israel was established in full partnership with the Israeli AS Foundation. This international branch of the foundation strives to be in sync with AS parents’ organizations, researchers, and physicians across the globe. As expressed by Eitan Shay, CEO of the Israeli AS Foundation and father to an 8-year-old girl with AS, “We are proud and honored that our long-term and warm relationship with the ASF has led to this highly important step of the Safra Children’s Hospital’s AS Clinic in Israel joining the global ASF AS Clinic Network.”
“Sharing knowledge and experience is highly important, especially in the field of rare disorders such as Angelman syndrome,” said Dr. Gali Heimer, MD, Ph.D., Pediatric Neurologist and Head of the Safra Children’s Hospital Israeli Angelman Syndrome Clinic at Sheba Medical Center. “We are honored to join the global ASF AS Clinic Network. I am certain that this collaboration will contribute significantly to the quality of care that AS patients receive worldwide, and it will also aid and facilitate AS-related clinical trials and the search for specific novel therapeutics for this disorder.”
The ASF AS Clinic Network is a comprehensive source of information for experts who specialize in AS. These healthcare professionals span a wide range of medical fields, including neurologists, epileptologists, developmental-behavioral pediatricians, psychologists, sleep medicine physicians, rehabilitation medicine specialists, gastroenterologists, pulmonologists, speech-language pathologists, physical/occupational therapists, genetic counselors, social workers, and nutritionists. The network provides a central platform for clinical research sites.
“The knowledge base and clinical data provided by the ASF AS Clinic Network is imperative to moving research forward, from study design to implementation through clinical trials,” said Eileen Braun.