This is a rare genetic disorder mainly affecting the nervous system. It is usually diagnosed in early childhood. However, medical advancements have increased the life expectancy of patients suffering from this disease. More and more people with Angelman Syndrome are surviving into adulthood with all these new problems and questions this brings for families, caregivers, and the patients themselves. Insight into the specific needs of adults with AS should be developed to enable them to lead satisfactory lives.
What Is Angelman Syndrome?
Angelman syndrome is caused by a mutation in the UBE3A gene on chromosome 15. The gene plays a crucial role in the process of brain development. If this gene is missing or faulty, it leads to the symptoms of Angelman Syndrome: severe developmental delays, speech impairment, problems with movement and balance, and frequent smiling or laughing.
People with Angelman Syndrome typically tend to be very happy and excitable. Speech difficulties are common, with many affected individuals remaining non-verbal all their lives. Seizures, sleeping difficulties, and other correlated medical issues can further afflict them. The syndrome is relatively rare and occurs in 1 in 12,000 to 20,000 cases.
Issues Faced by Adults with Angelman Syndrome
Needs for an individual with Angelman Syndrome alter across the life span. Some of the issues grow more prominent, and some others remain the same.
1. Health Concerns
Adults with Angelman Syndrome may have many health complications. Seizures are very common in children with AS and usually transition into adulthood. Management of such seizures can be quite challenging, as some adults respond differently to medication. Moreover, gastrointestinal problems, scoliosis, and obesity can complicate their medical conditions even further.
Another major issue is sleep disorders. Many adults with Angelman Syndrome have sleeping problems, which turn into other health complications and affect their lives in general. This can get very exhausting for the individual and the carers.
2. Issues in Communication
Communication continues to be one of the major issues for adult individuals with Angelman Syndrome. Many are non-verbal or nearly so. With age, there is an increasing need to find methods to communicate effectively. Some adults use sign language, picture boards, and/or communication devices effectively. However these tools require training and on-going practice in order to be useful.
3. Mobility and Motor Skills
Many adults with Angelman Syndrome develop balance and movement problems, which may worsen with increasing age. Most of them may require the use of mobility aids such as walkers or wheelchairs to move around. Physical therapy may be arranged to preserve muscle strength and flexibility; however, this should be regular and modified according to the changing needs of a particular individual.
4. Social Interaction and Behavior
Many adults with Angelman Syndrome are cheerful and sociable. However, they can be awkward in their sociability. They either do not pick up the social cues given to them or respond in a manner that is socially inappropriate, making it quite hard to develop relationships beyond the circle of the immediate family or network of carers. They sometimes feel isolated and cannot live independently or, for that matter, conduct ordinary daily activities on their own.
5. Self-Independence and Daily Activities
One of the major problems an adult with Angelman Syndrome is independence. Even though some may be able to do basic everyday tasks, most of them require help in dressing, eating, and for personal hygiene. As they grow older, it becomes a tight-rope walk between encouraging independence and providing the required support.
The Caregiver’s Role
Caregivers are involved in almost every aspect of an adult with Angelman Syndrome’s daily routine. This task is very rewarding and challenging, but at the same time, it involves a lifelong commitment. The caregivers have to take care of the health of the individual and provide them with adequate education and therapy.
Caregivers may also need to think about the future as the individual with Angelman Syndrome ages. This includes the legal ramifications of guardianship and making sure that financial and medical decisions are in place. Therefore, there must be regard for what will happen if the primary caregiver is no longer able to provide care.
Support networks are imperative to the carer. Making contact with other families, attending a support group, and speaking to a professional about the issues would have kept the carer managing without burning out.
Support and Resources for Adults with Angelman Syndrome
There is a lot of help available for adults with Angelman syndrome and their families. This information has included:
- Medical Care: The doctors familiar with Angelman Syndrome should be visited regularly. This would also help in continued monitoring of health complications and watch for the development of new ones.
- Therapies: In adults with Angelman Syndrome, physical, occupational, and speech therapy may help in maintaining skills and improve the quality of life.
- Assistive Technology: Adults with Angelman Syndrome can use assistive technology to become independent. This may include communication aids, mobility aids, and other kinds of technology that allow independence.
- Social Services: Most communities have programs available for adults with disabilities. Programs are available that offer everything from day programs to job training to simple social activities.
Looking Ahead: Research and Future Possibilities
Research into the condition of Angelman Syndrome is underway, and researchers are actively involved in searching for possible treatments that could improve the quality of life for affected individuals. Some of these studies involve gene therapy while others focus on more efficient management of symptoms like seizures and sleeping disorders.
Even though there is no cure for Angelman Syndrome, medical innovations and new models of support services help adults with this condition live longer with better health and more satisfying lives.
Conclusion
Among the challenges of living with Angelman Syndrome is when individuals affected by the disorder reach adulthood. Understanding these difficulties is a necessary first step to help adults with Angelman Syndrome thrive. Proper care, resources, and support networks enable adults affected by Angelman Syndrome to live lives that are full, joyful, meaningful, and rich in connection.
