Angelman Syndrome

Common symptoms

Angelman syndrome is a genetic disorder that causes a loss of gene function during the fetal development phase. This results in many symptoms that vary between individuals and their ages. These include speech development problems, wide-based gait, a short and broad skull, an abnormally large tongue (which may stick out of the mouth), hyperactivity, inattention, and poor sleep.

Although this condition is rare, it is also treatable. There are several treatment methods. For example, noninvasive prenatal testing is very accurate and can detect developmental delays and abnormalities before the child’s birth. The procedure involves the use of tiny fragments of DNA that are found in the mother’s blood.

Angelman syndrome is a rare genetic disorder that affects the nervous system. About one in fifteen thousand live births are affected. The symptoms typically appear in children around six or seven months. The condition is often misdiagnosed as another developmental disorder due to the common symptoms. Children and adults with this disorder often show developmental delays, poor speech, ataxia, seizures, and other symptoms.

Treatment

Children with Angelman syndrome need special treatment. The 15q Clinic at Children’s Colorado has a team of specialists specializing in Angelman syndrome treatment. Learn more about the program by reading this CBS Denver article. There are many different options for treating this disorder. For example, a doctor can prescribe medication or perform surgery. Both types of treatment have their benefits and drawbacks.

An accurate diagnosis is vital to the proper treatment of this condition. Children with Angelman syndrome are likely to have speech and intellectual disabilities, jerky walking, and facial abnormalities. The condition may be mistaken for autism as its symptoms are similar. However, children with Angelman syndrome have high social skills and can be highly pleasant. In addition, children with Angelman syndrome are generally not a danger to the child’s health.

Most children with this syndrome have an average lifespan, but the condition can be challenging to manage for the patient. Treatment is crucial for the patient’s well-being and can improve their quality of life. In the majority of cases, the cause of Angelman syndrome is unknown. In 10% to 15% of cases, a change involving another gene is the likely culprit.

Genetics

The genetics of Angelman syndrome involves the deletion of genetic information on the 15q11.2-q13 region of chromosome 15 in the mother. This deletion affects approximately 70% of patients with the syndrome. There are two classes of deletions: Class I and Class II. Both deletions are relatively large and affect the same region on chromosome 15 in the mother.

The UBE3A gene, responsible for Angelman syndrome, has two copies, with the paternal copy switched off. This is known as uniparental disomy. This mutation results in the onset of the syndrome. However, 10% of patients do not have any known genetic cause. This is because other genes may act on the UBE3A gene.

Patients with Angelman syndrome usually have a severe learning disability, epileptic seizures, ataxia, and absent speech. However, some patients are predisposed to outbursts of laughter and appear happy. This feature distinguishes Angelman syndrome from other severe developmental disabilities.

Life expectancy

Life expectancy for individuals with Angelman syndrome is an important issue for families affected by this rare disorder. This syndrome is characterized by epileptic seizures that can be dangerous and even life-threatening. In addition, the syndrome causes a child to have weak muscles from birth. This makes feeding difficult and may lead to malnutrition. It can also cause delays in physical and mental development.

The disorder is caused by the loss of gene function during fetal development. Genetic mutation refers to damage in the sequence of DNA, which gives cells the information necessary to carry out specific functions. In Angelman syndrome, the damaged DNA sequence results in symptoms characteristic of the disorder. Generally, each person inherits one copy of the UBE3A gene from both parents. This gene is active in several body tissues and certain parts of the brain.

The life expectancy of people with Angelman syndrome varies depending on their age and the severity of the condition. However, they usually lead everyday lives. The disorder can cause seizures and intellectual disability, but it can be treated. The symptoms of Angelman syndrome can be mild or severe, and they will generally improve over time.