Children With the Rare Disease Can See a Team of Specialists in One Visit
听opened a clinic today to provide specialized multidisciplinary care for children with Angelman syndrome, a rare and severe neurodevelopmental condition.
Cesar Ochoa-Lubinoff, MD
鈥淐hildren with Angelman syndrome present significant difficulties in their communication, motor and overall development. They have a sensitive and loving temperament but struggle regulating their emotions and behavior,鈥� said听, director of Developmental-Behavioral Pediatrics at Guerin Children鈥檚, who will head the new clinic. 鈥淥ur team of experts aims to help parents access the best interventions for their children and navigate the challenges of this syndrome the best way possible.鈥�
Angelman syndrome occurs in 1 in 15,000 births. It is caused by the lack of expression of the mother鈥檚 UBE3A gene.听(The father鈥檚 UBE3A gene is silenced at birth in the human brain.) This condition causes developmental delays and behavioral and emotional regulation problems.
罢丑别听, a nationwide parent advocacy organization, is providing a grant to support the Angelman Syndrome Clinic at Cedars-Sinai Guerin Children鈥檚.
Shervin听Rabizadeh, MD, MBA
Caring for children with Angelman syndrome is complex. Children typically need to be seen by different specialists to meet their medical needs: gastroenterology, neurology, epilepsy, genetics, developmental medicine, diet and nutrition, speech therapy, and occupational and physical therapy. The Angelman Syndrome Clinic at Cedars-Sinai Guerin Children鈥檚听will make it possible for children and their families to consult with multiple experts in one place.
鈥淲e look forward to supporting families with the top-notch expertise we鈥檙e able to provide,鈥� said听听associate director of听Cedars-Sinai听Guerin Children鈥檚 and chair of the Department of Pediatrics.
In addition to providing care, the clinic will collect data to help investigators understand the trajectory of the disease. The data will eventually be used for clinical trials comparing the efficacy of new drugs designed to treat Angelman syndrome.
Ophir Klein, MD, PhD
鈥淭his clinic is a prime example of how Cedars-Sinai melds clinical care with research,鈥� said听,听executive director of听听and the David and Meredith Kaplan Distinguished Chair in Children鈥檚 Health.听鈥淭his work is promising not only for the specialized care and medical advances it will bring to Angelman syndrome patients but also because discoveries related to rare diseases can lead to advances for more common diseases and conditions.鈥�
The Angelman Syndrome Clinic听at Cedars-Sinai Guerin Children鈥檚听is located in the Cedars-Sinai Steven Spielberg Building at 8723 Alden Drive, Los Angeles, CA 90048.
Families may make an appointment with the clinic by calling 310-423-7779.
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