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Monmouth Medical Center Emergency Department Staff Attend Lecture on Angleman’s Disease

Date: March 5, 2004

Monmouth County, NJ-The Emergency Department staff at Monmouth Medical Center attended a lecture given by Steven Katz, MD, FACEP, Chairman, Department of Emergency Medicine at St. Francis Medical Center, Trenton, NJ and Past-President of the Angelman’s Foundation (1997-2003) and current Secretary-Treasurer of the Angelman Foundation, on Angelman Syndrome and how to properly assess and treat Angelman patients in the Emergency Department.

Describing the chronic disease as the result of a defect in the 15^th chromosome, Dr. Katz informed the audience that 1 in 10,000 births result in Angelmans Disease, a condition that equally affects males and females.  The disease, which is named after Harry Angelman, is most commonly diagnosed between the ages of 18 months –3 years of age.

Life-long symptoms of the disease include the following: speech impairment, developmental delays, easily excited, seizures, abnormal EEG, tongue thrusting, sleep disturbances, balance or movement disorders, hyperactivity, short attention span, excessive laughter & happiness, crying, shrieking, screaming and short guttural sounds, oral-motor behaviors, difficulty in sucking and swallowing, peculiar behavior, fascination with water, high pain tolerance, fearlessness and hair pulling, pinching and/or biting.

According to Dr. Katz, “The majority of children and adults with Angelman Syndrome present with normal appearance, are healthy and in most cases very strong. When a child or adult with the condition presents to the Emergency Department, the staff needs to carefully listen to the to the parents and/or caregiver as each individual can have different types of seizures ranging from almost unnoticeable to severe. In addition, they frequently run high fevers and parents and/or caregivers observations are key as individuals with this condition cannot communicate verbally and in some cases it can be extremely challenging to administer the most basic of tests as these patients do not like to be touched.”

In the audience was Kelly Benedit, of Monmouth Beach, NJ, with her son Tom who has Angelman Syndrome. Kelly told members of the Emergency Department Staff the difficulties that she encountered in having Tom properly diagnosed and treated over the years. She praised the Emergency Department staff at Monmouth Medical Center for their ongoing treatment of Tom and discussed how Monmouth Medical Center was able to properly diagnose her son.  As Kelly spoke, her son Tom looked on inquisitively with interest and seemed to laugh on cue at some of the more humorous aspects Kelly’s story.

Both Kelly and Dr. Katz would like to inform the public of the 3^rd Annual National Angelman Walk-A-Thon, which will take place on May 15, 2004.  For more information on Angleman Syndrome, please check out the national Angelman website at www.angelman.org or call (800) IF Angel.

Monmouth Medical Center would like to thank Xcel Pharmaceutical Company for their support of this event. Xcel Pharmaceutical Company makes a product, which helps with pediatric and adult seizures. For more information, please view their website at www.xcelpharmaceuticals.com.