ANGELMAN SYNDROME
What is Angelman Syndrome?
Angelman Syndrome is a complex genetic disorder that affects the nervous system. Characteristic features of this condition include developmental delay or intellectual disability, severe speech impairment, seizures, small head size (microcephaly), and problems with movement and balance (ataxia). Delayed development can be noted by 6 months to 12 months of age, and other common signs and symptoms usually become apparent in early childhood. People with Angelman syndrome typically have a happy, excitable demeanor with frequent smiling and laughter, a short attention span, and hand-flapping movements. Some affected individuals also have unusually fair skin and light-colored hair.
How common is Angelman Syndrome?
What are the genetic changes related to Angelman Syndrome?
It is believed that the genetic changes that cause Angelman Syndrome are related to chromosome 15; mutations in the UBE3A gene; and also have some association with the OCA2 gene.
Treatment: Angelman Syndrome is a complex genetic disorder. To ensure that your child receives the best care and treatment, you should seek a Genetic Diagnosis and Genetic Counseling. Therapies commonly used by this population could be, but are not limited to:
The main adult problems in those with AS are essentially continuation of problems present in childhood. These include problems of seizure control, difficult behaviors and abnormal physical movements. The movement problems cover areas of ataxia, diminished ambulation and scoliosis. Adults with AS, due to behavioral issues, are perhaps more likely to be given some type of neuroleptic medication, and side effects or sedative effects of these agents can be a health problem. The good news regarding adult health and AS is that many health matters are the same as those encountered in the normal population.
Click here for more on Angelman Syndrome
What is Angelman Syndrome?
Angelman Syndrome is a complex genetic disorder that affects the nervous system. Characteristic features of this condition include developmental delay or intellectual disability, severe speech impairment, seizures, small head size (microcephaly), and problems with movement and balance (ataxia). Delayed development can be noted by 6 months to 12 months of age, and other common signs and symptoms usually become apparent in early childhood. People with Angelman syndrome typically have a happy, excitable demeanor with frequent smiling and laughter, a short attention span, and hand-flapping movements. Some affected individuals also have unusually fair skin and light-colored hair.
How common is Angelman Syndrome?
- Angelman Syndrome affects an estimated 1 in 12,000 to 20,000 people.
What are the genetic changes related to Angelman Syndrome?
It is believed that the genetic changes that cause Angelman Syndrome are related to chromosome 15; mutations in the UBE3A gene; and also have some association with the OCA2 gene.
Treatment: Angelman Syndrome is a complex genetic disorder. To ensure that your child receives the best care and treatment, you should seek a Genetic Diagnosis and Genetic Counseling. Therapies commonly used by this population could be, but are not limited to:
- Physical Therapy
- Occupational Therapy
- Speech Therapy
- Treatment for Epilepsy
- Gastroenology
The main adult problems in those with AS are essentially continuation of problems present in childhood. These include problems of seizure control, difficult behaviors and abnormal physical movements. The movement problems cover areas of ataxia, diminished ambulation and scoliosis. Adults with AS, due to behavioral issues, are perhaps more likely to be given some type of neuroleptic medication, and side effects or sedative effects of these agents can be a health problem. The good news regarding adult health and AS is that many health matters are the same as those encountered in the normal population.
Click here for more on Angelman Syndrome
