Angelman Syndrome – What it is, Symptoms and Physiotherapy Treatments. Furthermore, Angelman Syndrome is a genetic disease. It causes developmental disabilities, neurological problems and sometimes, seizures . People with Angelman Syndrome often smile and laugh frequently, and have happy and exciting personalities.
Developmental delays, between about 6 and 12 months of age, are usually the first signs of Angelman Syndrome . Attacks usually start between the ages of 2 and 3 years of age. People with Angelman Syndrome tend to live normal lives, but the disease cannot be cured. Treatment focuses on managing medical and developmental problems.
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Causes of Angelman Syndrome: Angelman Syndrome is a genetic disorder. It is usually caused by problems with a gene located on chromosome 15 called the ubiquitin ligase protein E3A (UBE3A) gene. Missing or defective gene:
You get your gene pairs from your parents – one copy from your mother (maternal copy) and the other from your father (paternal copy). Your cells normally use information from both copies, but in a small number of genes, only one copy is active.
Normally, only the maternal copy of the UBE3A gene is active in the brain . Most cases of Angelman Syndrome occur when a part of the maternal copy is missing or damaged. In some cases, Angelman Syndrome is caused when two paternal copies of the gene are inherited, rather than one from each parent.
Symptoms of Angelman Syndrome: Signs and symptoms of Angelman Syndrome include:
- Developmental delays, including not crawling or babbling for 6 to 12 months
- intellectual disability
- No speech or minimal speech
- Difficulty walking, moving or balancing well (ataxia)
- Often smiling and laughing
- Happy and exciting personality
People who have Angelman Syndrome may also have other signs and symptoms, including:
- Seizures , usually starting between 2 and 3 years of age
- Stiff or jerky movements
- Small head size, with flatness at the back of the head (microbracefacefalia)
- tongue impulse
- Hair , skin, and eyes that are light in color (hypopigmentation)
- Unusual behaviors, such as breast-feeding and raising arms when walking
When to See a Doctor: Most babies with Angelman Syndrome have no signs or symptoms at birth. The first signs of Angelman Syndrome are usually developmental delays, such as lack of tracking or babbling, between 6 and 12 months. If your child appears to have developmental delays or if your child has other signs or symptoms of Angelman Syndrome , make an appointment with your child’s doctor.
Risk Factors for Angelman Syndrome: Angelman Syndrome is rare. Researchers generally don’t know what causes the genetic changes that result in Angelman Syndrome . Most people with Angelman Syndrome have no family history of the condition. Occasionally, Angelman Syndrome can be inherited from one parent. A family history of the condition can increase a baby’s risk of developing Angelman Syndrome.
Complications of Angelman Syndrome: Complications associated with Angelman Syndrome include:
- Feeding Problems: Difficulty coordinating sucking and swallowing can cause feeding problems in babies. Your pediatrician may recommend a high-calorie formula to help your baby gain weight .
- Hyperactivity: Children with Angelman Syndrome often move quickly from one activity to another, have a short attention span, and keep their hands or a toy in their mouths. Hyperactivity usually decreases with age, and medication is usually not necessary.
- Sleep Disorders: People with Angelman Syndrome often have abnormal sleep-wake patterns and need less sleep than most people. Sleep difficulties can improve with age. Medication and behavioral therapy can help manage sleep disorders.
- Curvature of the Spine (scoliosis): Some people with Angelman Syndrome develop an abnormal side-to-side spinal curvature over time.
- Obesity: Older children with Angelman Syndrome tend to have large appetites, which can lead to obesity.
Diagnosis : Your child’s doctor may suspect Angelman Syndrome if your child has developmental delays and other signs and symptoms of the condition, such as movement and balance problems, small head size, flatness at the back of the head, and laughter frequent.
Confirming a diagnosis of Angelman Syndrome requires you to take a blood sample from your child for genetic studies. A combination of genetic tests can reveal the chromosomal defects related to Angelman Syndrome . These tests can review:
- Parental DNA Pattern: This test, known as the DNA methylation test, displays three of the four known genetic abnormalities that cause Angelman Syndrome.
- Missing Chromosomes: Either a fluorescence in situ hybridization test (FISH) or a comparative genomic hybridization test (CGH) can show if portions of chromosomes are missing.
- Gene Mutation: Rarely, Angelman Syndrome can occur when the maternal copy of a UBE3A gene is active, but is mutated. If the results of a DNA methylation test are normal, your child’s doctor may order a UBE3A gene sequence test to look for a maternal mutation.
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Treatments: There is no cure for Angelman Syndrome . The research is focused on targeting specific genes for treatment. Current treatment focuses on managing the medical and developmental problems. A team of healthcare professionals will likely work with you to manage your child’s condition. Depending on your child’s signs and symptoms, treatment for Angelman Syndrome may involve:
- Anti-seizure medication to control seizures
- Physiotherapy to help with walking and movement problems.
- Communication therapy, which may include sign language and image communication
- Behavioral therapy to help overcome hyperactivity and short attention span and aid development