For Angelman syndrome patients and their families, seizures often represent a significant and prominent issue.
A recent survey, titled "Quality of Life in Angelman Syndrome: A Caregivers' Survey," published in Pediatric Neurology, has shed light on the challenges faced by individuals with Angelman Syndrome and their families. The study, conducted by a team of U.S. researchers in collaboration with the Angelman Syndrome Foundation, focused on understanding the impact of non-seizure issues such as falls and sleep problems.
The survey was answered by 183 caregivers, most of whom were mothers of the person with Angelman. The findings revealed that falls, problems with sleep, and seizures negatively impact the quality of life of individuals with Angelman syndrome.
Angelman syndrome is characterized by symptoms including seizures, an unusually cheerful demeanor, developmental delays, and problems with speech. The survey revealed that the ability to walk and ambulate is associated with a higher quality of life for individuals with Angelman syndrome. Most (88%) of the Angelman patients were able to walk, either on their own or with assistance.
The survey also found that about 80% of the patients had experienced seizures, which first appeared at an average age slightly younger than 3 years old. For most patients, seizures became notably less frequent over time. The vast majority of patients had used some form of anti-seizure medication, and caregivers mostly reported that these treatments helped to control seizures.
However, the study also highlighted the importance of addressing non-seizure issues. More than 80% of the patients lived in the U.S., and about three-quarters identified as white. Nearly three-quarters (71.6%) of the caregivers reported their patient had experienced sleep problems in the past month. About half (58%) of patients with available data had a history of falls, with most falls being reported to be related to seizures.
Interestingly, the survey revealed that life quality scores tended to be lower among patients who had seizures compared to those who did not, though the association did not quite reach statistical significance. No significant association was found between life quality and the distance from hospitals to patients' homes.
The survey was conducted in collaboration with Angelman e.V., a self-help association of parents founded in 1993, which maintains contact with other international associations. This collaborative effort underscores the global importance of understanding and addressing the challenges faced by individuals with Angelman Syndrome and their families.
In conclusion, while seizures are a prominent symptom of Angelman Syndrome, the survey findings suggest that falls and sleep problems also significantly impact the quality of life of individuals with Angelman Syndrome. Addressing these non-seizure issues is crucial for improving the overall well-being of individuals with Angelman Syndrome and their families.
