Angelman syndrome is a genetic disorder caused by a change in a specific gene. This condition leads to developmental delays, speech and balance problems, intellectual disability, and sometimes seizures. in this article we will get to know What is angelman syndrome . so stay tuned.
What is angelman syndrome:-
People with Angelman syndrome often smile and laugh a lot. They usually seem happy and get excited easily.
Developmental delays, the first signs of the syndrome, typically start between 6 and 12 months of age. Seizures might begin around ages 2 to 3.
Although there is no cure for Angelman syndrome, most people with the condition live nearly normal lifespans. Treatment focuses on managing medical issues, sleep problems, and developmental delays.
Angelman syndrome symptoms:-
- Delays in crawling or babbling by 6 to 12 months.
- Intellectual disability.
- Limited or no speech.
- Difficulty with walking or balance.
- Frequent smiling and laughter, appearing very happy.
- Easily excited.
- Problems with sucking or feeding.
- Sleeping difficulties.
- Seizures starting around ages 2 to 3.
- Stiff or jerky movements.
- Small head size by age 2.
- Tongue thrusting.
- Light-colored hair, skin, and eyes.
- Hand flapping and raising arms while walking.
- Crossed eyes (strabismus).
- Curved spine (scoliosis).
What causes angelman syndrome:-
Angelman syndrome happens because of a problem with a gene called UBE3A. Normally, we get one UBE3A gene from each parent. Both genes work in most parts of the body, but in the brain and spinal cord, only the mother’s gene is active. If the mother’s UBE3A gene is missing or not working, the brain doesn’t have a working copy of the gene.
Here’s how it can happen:
- In most cases (about 70%), part of the mother’s chromosome 15, which has the UBE3A gene, is missing.
- In some cases (10-20%), there’s a change in the mother’s UBE3A gene that stops it from working.
- Sometimes, a person gets two chromosome 15s from their father and none from their mother. This is called paternal uniparental disomy.
- Rarely, a change in the structure of the chromosomes or other DNA problems can turn off the UBE3A gene.
In 10-15% of people with Angelman syndrome, the cause is unknown. It might be due to changes in other genes or chromosomes.
Some people with Angelman syndrome have light-colored hair and skin because they are missing another gene called OCA2, which affects coloring. But OCA2 doesn’t cause the other Angelman syndrome symptoms.
Who treats angelman syndrome:-
Most babies with Angelman syndrome don’t show symptoms at birth. The first signs of Angelman syndrome most often are developmental delays. This includes lack of crawling or babbling between 6 and 12 months.
If your child seems to have developmental delays or if your child has other symptoms of Angelman syndrome, make an appointment with your child’s healthcare professional.
How rare is angelman syndrome:-
Angelman syndrome is rare, and we often don’t know what causes the genetic changes that lead to it. Most people with Angelman syndrome don’t have a family history of the condition.
Sometimes, Angelman syndrome can be passed down from a parent. If the condition runs in the family, it may raise the chance that a baby will have Angelman syndrome.
what does angelman syndrome do:-
Feeding Issues: Babies with Angelman syndrome might have trouble sucking and swallowing, which can make feeding hard. Your doctor might suggest a special high-calorie formula to help your baby gain weight.
Hyperactivity: Kids with Angelman syndrome often switch activities quickly, have short attention spans, and might put things in their mouths. This usually gets better as they grow up, and they often don’t need medicine.
Sleep Problems: People with Angelman syndrome often have different sleep patterns and might need less sleep. These sleep issues may improve as they get older. Medicine and behavior therapy can sometimes help.
Curved Spine: Some people with Angelman syndrome develop a curve in their spine as they grow.
Obesity: Older children with Angelman syndrome often become overweight.
Prevent angelman syndrome:-
Through changed genes angelman syndrome can be passed from affected parent to a child. you have to take medical advice if you see any medical history in the family and if you have a child with angelman syndrome. the doctor can help on this for future plan.
FAQ:-
Q1:- What is Angelman syndrome behavior?
Ans: – Many people with Angelman syndrome smile and laugh often.
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