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| Division of Occupational Therapy - OT Connect Angelman Syndrome
Angelman Syndrome (AS) is a neurological disorder that is caused predominantly by deletions on chromosome fifteen given by the mother (in 70-75% of cases). This condition presents severe motor and mental retardation, hypotonia, ataxia, epilepsy, and speech absence. AS is not usually recognized at birth or in infancy since the developmental problems are not specific during this time. Dr. Harry Angelman was the first pediatrician to diagnose children with this condition in 1965. He originally called them “puppet children” and then later changed the name to Angelman Syndrome. Common Symptoms/ Course of Disease: In 100% of cases:
In more than 80% of cases:
In 20-79% of cases:
Age of Onset: AS is typically diagnosed between the ages of three and seven. The lifespan of a person with AS does not appear to be shortened. Bias: There is no gender bias. Majority of the cases are Caucasian. Current Medical Treatment: There is no known cure for AS. Since mental retardation occurs in all individuals with AS, placement in the school system involves either the child receiving special education support, and access to the "related service" of occupational therapy in both preschool and school settings. Occupational Therapy Involvement Occupational therapy works with kids with AS to enhance development and optimize their ability to participate in the activities and occupations of persons their own age. In the school setting a major emphasis is often fine motor and oral motor control. The OT may address the need for support in the fine motor demands of school by selecting activities the child needs help with, such as writing, cutting, gluing, and drawing, and developing supportive activities to build their skills. These activities can help the child develop and improve fine motor control. Many people with AS have some cognitive impairments or mental retardation. The OT may be able to provide support with cognitive problems like hyperactivity and poor attention span. One treatment an OT may try is a weighted vest that applies deep pressure and is believed to decrease purposeless hyperactivity and increase functional activity for the child. Another intervention for the child’s hyperactivity may be the utilization of therapy balls during class. Using a therapy ball in the classroom has appeared to help improve attention, school performance, and sustained sitting. References:
How OT Makes a Difference: Evidence-Based Practice Schilling, D.L., Washington, K., Billingsley, F.F., & Deitz, J. (2003). Classroom Seating for Children with Attention Deficit Hyperactivity Disorder: Therapy Balls Versus Chairs. American Journal of Occupational Therapy, 57, 534-541. This article discusses using therapy balls versus chairs in the classroom and its effects on children with attention deficit hyperactivity disorder (ADHD). For all the participants in this study who sat on the ball during class, their legibility word productivity and their in-seat behavior improved. Angelman Syndrome children have similar attention problems and may benefit from sitting on a therapy ball during treatment or in the classroom. Vandenberg, N.L. (2001). The use of a weighted vest to increase on task behavior in children with attention difficulties. American Journal of Occupational Therapy, 55, 621-628. This article talks about how weighted vests apply deep pressure increases task to fine motor activities in kids who are hyperactive and have difficulty with their attention span. Although this study was done on children with attention deficit hyperactivity disorder (ADHD), children with Angelman Syndrome experience similar attention problems of an ADHD child and may benefit from the same types of treatment. Ryan is a blond-haired, blue-eyed boy that was the first child born in his family. From day one, Ryan’s parents knew that he was different. He did not feed well, had a heart murmur (now closed), colic and reflux, and was developmentally delayed. After many tests, Ryan was diagnosed with Angelman Syndrome at age two. His parents were now able to spend their time and energy on helping Ryan instead of spending time looking for the diagnosis for the problem. Ryan, now two, attends early intervention classes twice a week. He is also involved in physical, speech, and occupational therapies, and there are six volunteers that do therapy with him each week. He works like a horse, loves to snuggle, has a great sense of humor, is able to work through his fears, loves to swim and take baths, loves toys that light up, loves to spin, and loves people. In occupational therapy, Ryan would work on skills such as feeding himself, gross and fine motor development, and attention to task, as well as matching, sequencing, memory, and imitation skills during play activities. Ryan seemed to understand, but was unable to talk to express himself. The occupational therapist worked with toys and then computers to help Ryan learn cause-effect relationships. In collaboration with Ryan's speech therapist, the occupational therapist used assistive technology to help Ryan learn to communicate using a picture based communication system. Ryan has been making excellent progress in all his therapies, and the early intervention team will continue to help Ryan's family and help them prepare for the demands of preschool and later school.
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