Angelman Syndrome (AS) is a neuro-genetic disorder that is caused by a loss of function of the UBE3A gene. Read this blog to learn more about Angelman Syndrome symptoms and causes.
What is Angelman Syndrome
The characteristic features of Angelman Syndrome (AS) include delayed development, intellectual disability, problems with movement and balance, epilepsy, and seizures. Individuals with AS typically have a happy demeanour with frequent smiling, laughing and hand-flipping movements. The developmental problems in people with AS become noticeable by the age of 6-12 months. Other common symptoms like seizures may occur in early childhood. AS shares symptoms and characteristics with autism, cerebral palsy, and Prader-Willi Syndrome. Due to this, individuals with AS often get a misdiagnosis.
Causes
The mechanism that causes dysfunction of the gene called UBE3A on chromosome 15 is complex. People inherit a copy of the UBE3A gene from each of their parents. Both copies of the gene are active and present in various body tissues. In certain areas, only one copy of the gene is activated. The deletion or inactivation in the maternal (mother’s) copy of the gene due to genetic mechanism causes the Angelman Syndrome. Most cases of AS are not inherited as the genetic change occurs during embryonic development. Rarely, they can be inherited, when the mutation in the UBE3A gene is passed on from one generation to the other.
Angelman Syndrome Symptoms
The symptoms may vary from person to person. Every individual with the condition of AS would not have all the listed symptoms. 80% to 99% of the people may have the symptoms of absent speech, behavioural abnormality, blue eyes, short and broad skull, broad-based gait, intellectual disability, low or weak muscle tone. 30% to 79% of the individuals may also have the symptoms of increased reflexes, broad mouth, wide-spaced teeth.
Symptoms also include seizures beginning between the age of 2 and 3 years. Individuals with AS most often have no speech or minimal speech along with trouble sleeping or staying asleep. Augmentative and Alternative Communication (AAC) Systems can help in indivuduals to communicate better.
Treatment
Scientists are still working on identifying the causes of the mutation in the gene. In most cases, treatment aims at managing each individual’s symptoms. This includes treatment for seizures; physical, and speech therapy; special education services. The life expectancy of individuals with Angelman Syndrome is normal. Though AS does not cause death, it might create certain complications like seizures and aspiration pneumonia.
Individuals with AS should get a diagnosis as soon as the early symptoms are visible. Healthcare professionals usually carry out the diagnosis by looking at the individual’s medical history, symptoms, physical conditions and laboratory test results. It is important to seek the guidance of a doctor or other specialists who have knowledge of the disorder as early as possible. The presence of the latest treatments and technology might help those individuals with AS in reducing the complications.
What is the Role of a Parent/Caregiver?
As a parent or a caregiver of an individual with Angelman Syndrome, you might be worried about their future. But thanks to technological advancements and medical centres & health care professionals, you can find the support you need. So, it is best to get help from specialists or healthcare professionals who can guide you in figuring out how you can support a person with Angelman Syndrome. Make sure that you foster a sense of independence within the individual.
Try to teach them basic skills and focus on small goals. For example, train them to take care of their hygiene without any assistance and encourage them to feed themselves. These life skills that you teach them will make them feel included and understand that they can be independent. Additionally, encourage the individuals with AS to socialize with others. This can give them a sense of comfort and belonging. In several cases, parents or caregivers take the role of making decisions for individuals with AS. In such situations, try to include the wants and needs of the individuals in the decisions that you think would be the best for them. When people with Angelman syndrome get a supportive environment, they can go on to lead fulfilling lives.
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