Angelman

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There are 9 item(s) tagged with the keyword "Angelman research".

  • Displaying: 1 - 9 of 9
1. Do You Know Angelman Syndrome?

While we have made progress in educating the world about Angelman syndrome, a considerable lack of awareness of this rare disease remains. Of most concern is the relatively low level of awareness about Angelman syndrome among the nation’s medical community. Misdiagnosis of Angelman syndrome occurs all too often, and it is because of this lack of awareness among pediatricians, nurse practitioners, therapists and others that individuals with Angelman syndrome are not receiving the specific medical care they need as early in their development as possible.

Tags: ASF News, Angelman syndrome, Angelman research
By Eileen Braun, Executive Director
2. Upcoming Paper on Dopamine and Angelman Syndrome

New data published by teams led by Drs. C.J. Malanga and Ben Philpot at UNC Chapel Hill suggest that in Angelman syndrome model mice, there are changes in two different neural circuits in the brain that use the chemical dopamine to transmit information. These dopaminergic pathways in the brain – the nigrostriatal and the mesolimbic pathways – might explain some of the characteristics seen in individuals with Angelman syndrome. Problems in the nigrostriatal pathway are involved in involuntary movements such as tremors, while problems in the mesolimbic pathway are involved in attention span, some behavioral traits such as obsessive-compulsive behaviors, and mood. In this paper, the authors showed that in Angelman syndrome model mice, dopamine release is decreased in the nigrostriatal pathway but increased in the mesolimbic pathway compared to normal, control mice.

Tags: ASF News, Angelman syndrome, Angelman research
By Eileen Braun, Executive Director
3. Latest Update to Behavioral Series Available: Cognitive Issues & Sensory Impairments

The Angelman Syndrome Foundation is pleased to announce that the third in the series on Angelman Syndrome Behaviors is available. Developed by Sarika Peters, PhD, a psychologist at Vanderbilt University in Nashville, Tennessee, this latest update addresses Cognitive Issues and Sensory Impairments in Individuals with Angelman syndrome.

This latest update to the informational series on Angelman Syndrome Behaviors is intended to help caregivers and those who work with individuals with AS learn how cognitive demands and sensory issues contribute to aggressive behaviors. Cognition or cognitive development refers to mental processes that include language, memory, attention, pattern recognition, perception, motor skills, and problem solving. Cognition involves mental processing in which the motor system draws on stored information to plan and produce actions, the understanding of which may help those who care for or work with individuals with AS better address cognitive issues related to aggressive motor skills.

Tags: ASF News, Angelman syndrome, Angelman research
By Eileen Braun, Executive Director
4. Second Angelman Syndrome Clinic Opens at Massachusetts General Hospital

Massachusetts General Hospital (MGH), MassGeneral Hospital for Children and the Angelman Syndrome Foundation (ASF) announced today the opening of the Angelman Syndrome Clinic, one of only two in the country.  The facility—made possible through a partnership between MGH and MassGeneral Hospital for Children and the ASF—is focused on serving the comprehensive medical needs of individuals with Angelman syndrome.  With the creation of the clinic, individuals with Angelman syndrome and their families can access multiple subspecialists and a variety of medical resources in one setting, as opposed to visiting multiple locations across the nation.  The Angelman Syndrome Clinic is unique as it can leverage the variety of expertise and specialized care available at MGH to help individuals with Angelman syndrome from infancy through adulthood. 

Tags: ASF News, Angelman syndrome, Angelman research
By Eileen Braun, Executive Director
5. Mrs. North Carolina Raises Awareness for Angelman Syndrome

On Oct. 26-28 the Mrs. North Carolina pageant will take to the stage in Moorseville at the Charles Mack Citizen Center, and Jessica Harvey, the reigning Mrs. North Carolina, will be passing her title; however, her platform will remain in the forefront. During her year as Mrs. North Carolina and the first runner-up in the Mrs. America pageant, Harvey has brought awareness wherever she has been of a disease that is dear to her heart and family — Angelman syndrome, a neurodevelopmental disorder that is often "misdiagnosed as autism or cerebral palsy," according to Eileen Braun, executive director of the Angelman Syndrome Foundation.

Tags: ASF News, Angelman syndrome, Angelman research
By Karen Kistler, Mooresville Tribune
6. Introducing a New Resource to Help you Better Understand Behaviors in Angelman Syndrome

The most frequent requests for guidance and assistance from families of individuals with Angelman syndrome are related to behaviors.  The Angelman Syndrome Foundation has listened to these concerns, and in response is very excited to announce the introduction of a new resource created to help all individuals who care for and work with individuals with AS better understand the complexities of behaviors that people with AS exhibit.  A variety of social, psychological, environmental, medical and communication factors affect behavior, and by better understanding how these external factors affect each individual with AS, concerned families and caregivers are better able to create an action plan to help modify challenging or aggressive behavior.

Tags: ASF News, Angelman syndrome, Angelman research
By Eileen Braun, Executive Director
7. Attention Tooth Fairies! Donate Newly Lost Teeth for Cell Research

Don’t throw away those lost teeth! If you take part in this program you might help researchers develop new treatments for patients with 15q11.2 duplication and Angelman syndromes. Dr. Lawrence T. Reiter at the University of Tennessee Health Science Center in Memphis is conducting a research study to find out if nerve cells can be grown from the dental pulp of people with various neurogenetic syndromes. Some of these syndromes include duplicate chromosomes and deletions (missing parts) or duplication (extra pieces) of human chromosome 15q.

Tags: Angelman research, Angelman syndrome
By Eileen Braun - Executive Director
8. Dietary Treatment Proven Successful in Reducing Seizures in Angelman Syndrome by up to 90 Percent

The Angelman Syndrome Foundation (ASF) is very excited to announce today that clinical research published in Epilepsia on July 10 has found that a low glycemic index treatment (LGIT) is successful in reducing seizures in individuals with Angelman syndrome.  Seizures are a potentially life-threatening symptom that 90 percent of individuals with Angelman syndrome experience and are very difficult to treat.  The research, which was funded by the ASF, has widespread, positive implications for the Angelman syndrome community because of the relatively low risk and ease of implementing this type of dietary treatment regimen, particularly compared to other more stringent dietary treatments.

Tags: ASF News, Angelman syndrome, Angelman research
By Eileen Braun, Executive Director
9. Research Reveals Possible Root Cause of Seizures in Autism-related Angelman Syndrome

Research published on June 6th in the scientific peer-reviewed journal Neuron has discovered the possible underlying cause of seizures in individuals with Angelman syndrome, a neuro-genetic disorder similar to autism that occurs in one in 15,000 live births.  Seizures are a potentially life-threatening symptom that 90 percent of those with Angelman syndrome experience.  Funded by the Angelman Syndrome Foundation (ASF), the research was conducted by a team of scientists at the University of North Carolina (UNC) at Chapel Hill.

Tags: ASF News, Angelman syndrome, Angelman research
By Eileen Braun, Executive Director
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