changes in the mother's or father's UBE3A gene that they may have passed on.any chromosomes or pieces of chromosomes that are missing.Several genetic tests will be done on the blood sample. Diagnosing Angelman syndromeĪngelman syndrome may be suspected if a child's development is delayed and they have the syndrome's distinctive characteristics.Ī blood test is used to confirm the diagnosis.
Most children in these unexplained cases have different conditions involving other genes or chromosomes. Sometimes the cause of Angelman syndrome is unknown. In a small number of cases, Angelman syndrome happens when a child gets 2 copies of the gene from their father, rather than 1 from each parent. This means there's no active copy of the gene in the child's brain. Most cases of Angelman syndrome are caused by the child not getting a copy of the UBE3A gene from its mother, or the gene not working. A gene is a single unit of genetic material (DNA) that acts as an instruction for the way an individual is made and develops. In most cases of Angelman syndrome, the child's parents do not have the condition and the genetic difference responsible for the syndrome happens by chance around the time of conception.Īngelman syndrome usually happens when the gene known as UBE3A is either missing or not working properly. In such cases, a high-calorie formula may be recommended to help the baby gain weight. Babies with Angelman syndrome may need to be treated for reflux. Some young babies with Angelman syndrome may have difficulties feeding because they're unable to co-ordinate sucking and swallowing.
frequent laughter and smiling, often with little stimulus.Several distinctive behaviours are associated with Angelman syndrome. These include: Their arms may tremble or make jerky movements, and their legs may be stiff. They may have difficulty walking because of issues with balance and co-ordination (ataxia). The movement of a child with Angelman syndrome will also be affected. However, most children with Angelman syndrome will be able to communicate using gestures, signs or other systems. Later, they may not speak at all or may only be able to say a few words. Characteristics of Angelman syndromeĪ child with Angelman syndrome will begin to show signs of delayed development at around 6 to 12 months of age, such as being unable to sit unsupported or make babbling noises. Angelman syndrome is a genetic condition that affects the nervous system and causes severe physical and learning disabilities.Ī person with Angelman syndrome will have a near-normal life expectancy, but they will need support throughout their life.