{"id":16493,"date":"2025-09-29T19:31:25","date_gmt":"2025-09-29T19:31:25","guid":{"rendered":"https:\/\/introlab.net\/angelmanov-sindrom\/"},"modified":"2025-09-30T20:47:50","modified_gmt":"2025-09-30T20:47:50","slug":"angelman-syndrome","status":"publish","type":"post","link":"https:\/\/staging-introlab.dev-digitaldot.com\/en\/angelman-syndrome\/","title":{"rendered":"Angelman Syndrome"},"content":{"rendered":"

When a child does not reach expected developmental milestones, parents face a number of questions and uncertainties. Some children start speaking later, walk later, or experience unexplained sleep problems and frequent bouts of laughter.<\/em> Sometimes it is only through detailed genetic testing that it becomes clear Angelman syndrome is behind it all\u2014a rare condition that changes the everyday life of the whole family. Although living with this syndrome is challenging, with early diagnosis, professional support, and appropriate therapies, it is possible to significantly improve the quality of life for both the child and the family. That is why understanding this disorder is the first and most important step.
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What is Angelman Syndrome<\/h2>\n

Angelman syndrome is a rare neurogenetic disorder caused by the loss of function of the UBE3A gene in the brain.<\/strong> The most common signs include developmental delay, limited or absent speech, distinctive motor skills with an unsteady gait, sleep difficulties, and a tendency toward epileptic seizures. Many babies appear completely healthy at birth, so the first signs are usually noticed only between the sixth and twelfth month of life<\/strong>, when the child shows delays in milestones such as sitting, crawling, or babbling.<\/p>\n

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Angelman syndrome is a rare neurogenetic disorder that is most often recognized in the first years of life.<\/figcaption><\/figure>\n

Cause of Angelman Syndrome<\/h2>\n

Each gene is inherited in two copies, one from the mother and one from the father. In neurons, however, the maternal copy of the UBE3A gene is mostly active, while the paternal copy is naturally silenced. Because of this, any damage to the maternal copy of UBE3A leads to symptoms.<\/em> The most common mechanisms include deletion of a specific region of chromosome 15, changes in the UBE3A gene itself, imprinting defects, or cases when a child inherits both copies of chromosome 15 from the father. It is important to note that the cause is not related to anything a parent did or failed to do during pregnancy.<\/p>\n

Symptoms of Angelman Syndrome<\/h2>\n

Angelman syndrome does not always present in the same way in every child, but there are patterns that tend to repeat and become noticeable at certain stages of life. Some symptoms appear very early, while others become more pronounced as the child grows.<\/p>\n

Infancy and Early Period<\/h3>\n

The most common symptoms at this age are:<\/p>\n