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Transcript of Angelman Syndrome
one in 15,000 live births.
AS is often misdiagnosed as cerebral palsy or autism. Misdiagnosed? How can we help look for this disorder and keep it from being misdiagnosed? Here are some characteristics: Characteristics of the disorder include:
- developmental delay
- lack of speech
-walking and balance disorders.
Individuals with Angelman syndrome will require life-long care. What do people with Angelman Syndrome Look Like?
Patients with AS have a characteristic behavioral phenotype with jerky movements, frequent and sometimes inappropriate laughter, a love of water, and sleep disorder. The facial features are subtle and include a wide, smiling mouth, prominent chin, and deep set eyes. It is caused by a variety of genetic abnormalities involving the chromosome 15q11-13 region, which is subject to genomic imprinting
With age, people with Angelman syndrome become less excitable, and the sleeping problems tend to improve. However, affected individuals continue to have intellectual disability, severe speech impairment, and seizures throughout their lives. Adults with Angelman syndrome have distinctive facial features that may be described as "coarse." Other common features include unusually fair skin with light-colored hair and an abnormal side-to-side curvature of the spine (scoliosis). The life expectancy of people with this condition appears to be nearly normal.
Here is a look at a child and an adult who have both been disgnosed with Angelman Syndrome... Can you pinpoint some of the characteristics? Most cases of Angelman syndrome are not inherited, particularly those caused by a deletion in the
maternal chromosome 15 or by paternal uniparental disomy.
These genetic changes occur as random events during the formation of reproductive cells
(eggs and sperm) or in early embryonic development.
Affected people typically have no history of the disorder in their family. Can Angelman Syndrome Be Inherited? Can AS patients live normal lives? Communication difficulties are a prominent feature of Angelman syndrome. Speech does not develop and most AS patients have a vocabulary of only two or three words.14 Most patients will be able to understand simple commands within the context of their daily routine. A minority can communicate using a formal sign language such as Makaton or the Picture Exchange Communication System (PECS). Others use gestures to communicate. Some patients have been able to use augmented communication devices (for example, Dynavox) to good effect and acquisition of communication skills is often easier as patients get older and concentration span improves. Difficulties with communication can lead to frustration. Speech is present in a few patients (see Phenotype/genotype correlation ), but even these will have difficulty in understanding complex commands and lack capacity for abstract thought. So, more often than not, No. Communication difficulty makes it hard for AS patients to carry out normal lives. So...Where can I find additional information about Angelman Syndrome? The following resources for Angelman Syndrome are particularly helpful:
MedlinePlus - Health information
Genetic and Rare Diseases Information Center - Information about genetic conditions and rare diseases
Additional NIH Resources - National Institutes of Health
National Institute of Neurological Disorders and Stroke
National Organization for Rare Disorders
Angelman Syndrome Foundation Thanks for your attention.