Understanding Angelman Syndrome Causes, Symptoms and Treatments
Angelman Syndrome is a rare genetic disorder that affects about 1 in every 15,000 people worldwide. It is caused by a mutation or deletion in the UBE3A gene, which is responsible for producing a protein that is important for normal brain development.
An English pediatrician named Harry Angelman originally identified this illness in 1965 after observing three youngsters who he dubbed as ‘Puppet Children’ because of their peculiar arm postures and jerky movements.
Individuals with Angelman Syndrome experience developmental delays, cognitive impairment, and other neurological symptoms that affect their quality of life. In this article, we will explore the causes, symptoms, and treatments for Angelman Syndrome.
Causes
Angelman Syndrome is caused by a problem with the UBE3A gene. Normally, this gene is only active in the brain cells inherited from the mother, and the father’s copy is silenced. However, in individuals with Angelman Syndrome, the maternal copy of the UBE3A gene is either missing or mutated, which means that there is little or no functional protein being produced. This leads to problems with brain development and function, resulting in the symptoms associated with Angelman Syndrome.
Symptoms
The symptoms of Angelman Syndrome can vary widely, but some of the most common include:
• Developmental delays, such as delayed walking and talking
• Cognitive impairment, such as difficulty with learning and problem-solving
• Movement and balance problems, such as difficulty with coordination and balance
• Speech difficulties, such as a limited vocabulary and difficulty speaking in sentences
• Seizures, which can occur in about 90% of individuals with this condition
• Hyperactivity and sleep disorders, which can make it difficult for individuals to get the rest they need
Mouthing objects, having a cheerful attitude and laughing easily when prompted, being drawn to water, being hyperactive, having a short attention span, and sleeping less are all signs of Angelman Syndrome.
Treatments
Currently there is no cure for Angelman Syndrome, but there are treatments available that can help manage the symptoms and improve the quality of life for the affected individuals. These may include:
• Occupational therapy to improve movement and coordination
• Speech therapy to improve communication skills
• Medications to manage seizures and other symptoms
• Behavioral therapy to manage hyperactivity and other behavioral issues
• Assistive devices to help with mobility and communication
Research is ongoing to find new treatments and potential cures for Angelman Syndrome. Clinical trials are currently underway to test new medications and therapies that may be effective in treating this condition.
Conclusion
Angelman Syndrome is a rare genetic disorder that affects brain development and function, leading to a range of symptoms that can impact an individual’s quality of life. While there is currently no cure for this condition, there are treatments available that can help manage the symptoms and improve outcomes for affected individuals. By raising awareness of Angelman Syndrome and supporting ongoing research, we can work towards better understanding and treatment of this rare condition.
Coming to know that your child has Angelman Syndrome can be overwhelming. Chetna Foundation has a team of experts who are familiar with the syndrome and help them receive the best care.
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