Neuropsychological disorders in Angelman syndrome

Angelman syndrome (AS), which is the one of the most well-known from the group of genomic imprinting diseases, occurs with a frequency of 1:10-20 thousand newborns. The criteria for the clinical diagnosis of AS can be divided into 3 groups: somato-visceral, mental and neurological. Frequent somato-visceral symptoms include postnatal microcephaly, ankle pronation and gastrointestinal difficulties. Consistent mental disorders are represented by severe intellectual disability with speech impairment and behavioral characteristics in the form of “happy facial expressions” and hypermotoric. Balance disorder and epileptic seizures are the main neurological signs of AS. The combination of severe mental retardation and “happy behavior” with a pronounced smile and laughter may be specific to AS. However, a special genetic study is necessary to confirm the diagnosis.