Genetic Disorder: An Overview of Angelman Syndrome, Its Origin, and Solutions for Management
Angelman syndrome (AS) is a rare neurogenetic disorder that affects an individual's development and causes a range of symptoms. This condition, characterized by a happy, smiley, and laughing demeanor, can cause various physical, cognitive, and behavioural challenges.
One of the most common symptoms of AS is seizures, occurring in 80-90% of individuals. These seizures are managed with targeted anticonvulsant medications, with levetiracetam being a first-line option to help control seizures.
Besides seizures, AS can also lead to intellectual disability, speech impairment, and sleep problems, which may improve as the child gets older. Vision problems, gastroesophageal reflux disorder, and constipation are other physical symptoms that can be experienced.
AS can also cause distinctive facial features, such as a prominent chin, deep-set eyes, unusually wide mouth, protruding tongue, widely spaced out teeth, and an abnormally flat back of the head. People with AS may also have very fair skin with light-colored hair and eyes compared to family members.
Older children and adults with AS may be at risk of obesity, and the condition can also cause mobility issues, such as scoliosis, difficulty with movement and balance, and crossed eyes. In some cases, AS can also cause hand or arm flapping movements and a love of water and shiny objects, as well as a great interest in music.
While there is currently no cure for AS, researchers believe there is a high chance of finding one in the future. Emerging therapies aim to address the underlying genetic cause by targeting the UBE3A gene dysfunction. Breakthrough therapies like GTX-102 (apazunersen) have received FDA designation, based on early clinical studies showing developmental gains and sustained improvement in cognitive and motor symptoms by restoring UBE3A gene function.
Experimental approaches include gene therapy, reactivation of the dormant paternal UBE3A allele, and various gene-editing techniques. These innovative genetic therapies hold promise for disease-modifying effects by restoring UBE3A function, potentially transforming AS management in the near future.
Besides pharmacological and genetic therapies, management involves multidisciplinary supportive care such as physical therapy, speech therapy, and behavioural interventions to improve motor skills, communication, and quality of life. Early treatment initiation, ideally soon after birth, is emphasized as it may maximize beneficial outcomes due to the condition’s impact on brain development. However, ongoing therapy is necessary to manage symptoms progressively.
People with AS will require support throughout their lives, but they can lead long and happy lives. Treatments for AS include anti-seizure medication, behavioural therapy and sleep routines, breastfeeding support, upright positioning for feeding and medicines to help digestion, physical therapy, ankle braces or supports for walking, braces or corrective surgery for severe scoliosis, social support, speech and occupational therapy, picture-based or computer technology for communication, genetic counseling, and support groups.
In summary, current treatments manage seizures and developmental challenges, while innovative genetic therapies hold promise for disease-modifying effects by restoring UBE3A function, potentially transforming AS management in the near future. Several groups and organizations provide a support network for families, fundraising opportunities, and information on the latest research advances.
- The rare neurogenetic disorder, Angelman syndrome (AS), besides causing various physical, cognitive, and behavioral challenges, can also lead to other medical-conditions such as sleep problems, which may improve as the child grows older.
- People with AS may face physical symptoms like vision problems, gastroesophageal reflux disorder, and constipation, in addition to neurological disorders such as scoliosis, difficulty with movement and balance, and crossed eyes.
- AS can have an impact on an individual's health and fitness, potentially causing obesity and mobility issues over time, but with early treatment initiation, quality of life can be significantly improved.
- Within the realm of health and wellness, treatments for AS involve not only pharmacological and genetic therapies but also support for fitness and exercise, including physical therapy, and essential care services like speech and occupational therapy, along with a strong emphasis on social support.
