![]() ![]() physiotherapy may improve posture, balance and walking ability it's also important to prevent permanent stiffening of the joints as people with Angelman syndrome get older.anti-epileptic medicine to control seizures.Your child may benefit from some of the following treatments and aids: If your child is diagnosed with Angelman syndrome, you will be able to talk to a genetic doctor about what support they might need. Most children with Angelman syndrome are diagnosed between the ages of 9 months to 6 years, when physical and behavioural symptoms become apparent. This helps to determine your chance of having another child with Angelman syndrome. changes in the child's UBE3A gene that would stop it from workingįor each child with Angelman syndrome, it's important to know the genetic change that caused the condition.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 inactive 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. Usually a child gets 2 copies of this gene, one from each parent, but only the gene from the mother is active. 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, they may need to be fed through a feeding tube. 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. ![]() a side-to-side curvature of the spine ( scoliosis).skin, hair and eyes that are paler than other family members.Other possible features of the syndrome include: Children with Angelman syndrome may also start to have seizures or fits around this age. ![]()
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