Most children do not develop the ability to speak more than a few words. Children with Angelman syndrome also have significant communication difficulties. Most may be unable to speak while in a few there is some limited speech.Ĭhildren with Angelman syndrome experience delays in reaching developmental milestones (developmental delays) and have severe learning disabilities. For example, some individuals with Angelman syndrome may have seizures, others may not. Individuals with Angelman syndrome will not have all of the symptoms discussed below. The specific symptoms of Angelman syndrome vary from person to person. The characteristic findings of Angelman syndrome are not usually apparent at birth and diagnosis of the disorder is usually made between 1 and 4 years of age.Īngelman syndrome is associated with a broad spectrum of possible symptoms. Angelman syndrome is caused by deletion or abnormal expression of the UBE3A gene.Īngelman syndrome was first described in the medical literature in 1965 by Dr. Some children with Angelman syndrome may have distinctive facial features but most facial features reflect the normal parental traits. Additional symptoms may occur including seizures, sleep disorders and feeding difficulties. In addition, children may have enough receptive language ability to understand simple forms of language communication. Although those with the syndrome may be unable to speak, many gradually learn to communicate through other means such as gesturing. 5 Myths About Orphan Drugs and the Orphan Drug ActĪngelman syndrome is a rare genetic and neurological disorder characterized by severe developmental delay and learning disabilities absence or near absence of speech inability to coordinate voluntary movements (ataxia) tremulousness with jerky movements of the arms and legs and a distinct behavioral pattern characterized by a happy disposition and unprovoked episodes of laughter and smiling.Information on Clinical Trials and Research Studies.
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