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What is Angelman Syndrome?
Angelman Syndrome (AS) is a rare neurogenetic disorder characterized primarily by severe learning difficulties, frequent seizures, and movement and balance disorders. It is caused by a genetic abnormality related to chromosome 15q11-13. As a result of the syndrome, children often suffer from poor muscle tone, decreased developmental delays, and an inability to speak.
The Causes of Angelman Syndrome
The exact cause of Angelman Syndrome is unknown. Current research suggests that a genetic mutation results in a loss of functioning of the UBE3A gene located on chromosome 15q11-13. This mutation may occur during fetal development, but in some cases, a person can inherit the abnormality from one of their parents.
Diagnosing Angelman Syndrome
To diagnose Angelman Syndrome, healthcare providers rely upon a combination of tests and observations. These include assessments of physical development, neurologic examination, chromosome analysis, genetic testing, and electrophysiologic studies.
The Symptoms of Angelman Syndrome
Angelman Syndrome affects the functioning of the central nervous system and can have a wide range of symptoms. These include:
Developmental issues – Severe developmental delays can occur in individuals with AS, along with issues related to social connections, understanding language, and communication.
Movement and Balance Disorders – Many children with AS experience involuntary jerking movements, a stiff posture, and balance issues.
Epilepsy – Seizures are quite common in those with AS, and can be of many different types.
Behavioral Issues – Individuals with AS may demonstrate frequent laughing and smiling, difficulty with shifts in attention, and sleep problems.
Raising Awareness of Angelman Syndrome
Angelman Syndrome is a condition that has received comparatively low levels of awareness. In order to improve understanding of the syndrome, healthcare providers, government agencies, and advocacy groups are working to heighten the public’s awareness of the condition. Additionally, more research is needed to gain insight into more effective medical management and treatments.
What Can Families do?
For families of individuals with AS, it is important to get familiar with available resources to better understand the condition and maximize treatment options. Seeking out support groups and networks can be beneficial, helping family members to connect with other families and medical experts who are better acquainted with the condition.
Conclusion
Living with Angelman Syndrome can be a difficult and challenging experience for both those affected and their families. It is important to raise awareness of the condition and its effects in order to better support those affected. By educating the public and increasing access to resources and research, those living with the condition can gain access to the best possible options for treatment.