New Angelman syndrome risk factors study findings reported from University of Bologna
2007 MAR 5 -- New investigation results, "Psychological consequences of prenatal diagnosis in a case of familial Angelman syndrome," are detailed in a study published in Prenatal Diagnosis. According to a study from Bologna, Italy, "Angelman Syndrome (AS), characterized by mental retardation, absence of speech, seizures and motor dysfunction, is caused by genetic defects leading to loss of expression of the maternal copy of the chromosome 15q11-13 imprinted region. Most cases are sporadic, being caused by de novo deletion of maternal chromosome 15q11-13 (75%) or by paternal uniparental disomy (3-4%)." "Familial cases can occur, due to mutations in the UBE3A gene or in the imprinting center. We describe the case of a pregnant woman having two nephews with AS caused by a UBE3A mutation; lack of communication within the family led the woman to be completely unaware of the risk of disease recurrence until 15 weeks of gestation. UBE3A genetic testing revealed she carried the familial mutation 892-893delCT. Prenatal diagnosis was performed on amniotic fluid and demonstrated that the fetus had inherited the mutation. The unexpected diagnosis and the subsequent termination of the pregnancy caused the woman to undergo acute psychological distress showing relevant psychopathological symptoms. Nevertheless, at 2-year follow-up, adverse consequences were minimized, and the couple was planning a new pregnancy," wrote D. Turchetti and colleagues, University of Bologna. The researchers concluded: "Factors affecting the psychological outcome of abortion and the role of psychological support in reducing the risk of long-term unfavorable consequences are discussed." Turchetti and colleagues published their study in Prenatal Diagnosis (Psychological consequences of prenatal diagnosis in a case of familial Angelman syndrome. Prenatal Diagnosis, 2006;26(12):1156-9). For more information, contact D. Turchetti, UO di Genetica Medica, Universita di Bologna-Policlinico, SOrsola-Malpighi, Bologna, Italy. Publisher contact information for the journal Prenatal Diagnosis is: John Wiley & Sons Ltd., the Atrium, Southern Gate, Chichester PO19 8SQ, W Sussex, England. Keywords: Italy, Bologna, Angelman Syndrome Risk Factors, Angelman Syndrome, Genetics, Mental Health, Neurology, Psychological, Psychology. This article was prepared by Pain & Central Nervous System Week editors from staff and other reports. Copyright 2007, Pain & Central Nervous System Week via NewsRx.com.
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