Angelman syndrome is a genetic disorder that affects the nervous system, causing developmental delays and physical disabilities. Although rare, it can significantly impact those affected by it and their families. Patients need special care and attention throughout their lives and may struggle to participate in everyday activities. This article discusses the common symptoms, causes, and treatments for Angelman syndrome and the implications of the disorder for those living with it.
Symptoms
Angelman syndrome affects the nervous system, causing developmental disabilities and neurological issues. A few signs include:
- Delayed or absent speech
- Balance and coordination problems
- Sleep disturbances
- Microcephaly (small head size)
- Intellectual disability
- Wide mouth and large protruding tongue
- Frequent laughter and smiling
- Rigid movements
Due to these symptoms, patients often find it difficult to communicate, learn, and move freely. They also require someone to look after them and help them with routine tasks like eating, dressing, and washing.
Causes
Angelman syndrome is a genetic disorder, which means it occurs when there is a mutation or change in a person’s gene or genes. The condition’s potential causes include:
- Deletion or mutation of chromosome 15
A deletion or mutation of a section of chromosome 15 may cause Angelman syndrome. It can occur erratically or be inherited from a parent. - UBE3A gene mutation
The condition could also be caused by the inactivation or lack of expression of a gene called UBE3A (found on chromosome 15). If this gene is mutated, the body cannot produce enough UBE3A protein, vital for brain development. - Uniparental disomy
In rare cases, a child may receive two copies of chromosome 15 from only one parent instead of one from each parent. If both copies are inherited from the mother, it can lead to a lack of expression of the UBE3A gene, triggering the condition. - Imprinting defect
It is a situation where both copies of chromosome 15 come from the father instead of one copy from each parent. Like uniparental disomy, an imprinting defect can lead to the absence of expression of the UBE3A gene, triggering the condition.
It is important to note that only one in 15,000 to 500,000 people have Angelman syndrome, and the above genetic defects are extremely rare.
Treatment and management
While Angelman syndrome is a severe condition, several therapies are available to help manage its symptoms and help patients improve their quality of life. The most common therapies include physical, speech, occupational, and behavioral therapy. Let us take a closer look at the benefits of each:
- Physical therapy
It helps improve balance and coordination and reduce the inconveniences caused by motor development delays. - Speech therapy
It helps improve communication skills and verbal expression. - Occupational therapy
It helps patients increase their independence in daily activities. - Behavioral therapy
It helps manage behavioral issues like hyperactivity and agitation.
Besides therapies, doctors may recommend treatments to manage seizures, sleep problems, and other discomforts associated with Angelman syndrome. They may also suggest certain nutritional changes to keep the symptoms in check.
Implications of Angelman syndrome
The condition has significant implications for those affected. For instance, patients often struggle with coordination and balance, poor muscle tone, and weak motor skills. As a result, they need assistance with activities of daily living, such as dressing and bathing. They also experience difficulty walking and running and often require assistive devices like walkers or wheelchairs.
The challenges posed by Angelman syndrome affect not only patients but their entire families. In most cases, parents and caregivers provide round-the-clock care, which can be physically, emotionally, and financially demanding. Some parents may need to take time off work to provide the necessary care or hire additional help to manage their responsibilities.
Many support services help individuals with Angelman syndrome and their families. They provide specialized educational programs, respite care, support groups, and social skill training to those in need. Families must be aware of the challenges associated with the disorder to access the necessary support and resources.
