Angelman syndrome is a rare but serious genetic disorder that causes developmental difficulties, impaired brain development, spasticity, and physical delays. Angelman syndrome happens when a child does not receive two working copies of the UBE3A gene, including one from either parent. While the parents themselves do not have Angelman syndrome and pass it on to their children, they pass the gene that causes it to happen.
In most cases, Angelman syndrome does not reduce life expectancy. However, someone with the condition will require lifelong support and assistance, as they will never fully develop. Additionally, there is no cure for Angelman syndrome, and the condition cannot be prevented, even if it is detected with prenatal genetic testing. However, while there is no cure or prevention method, there are treatments available that can help mitigate the condition as much as possible.
While Angelman syndrome can affect numerous parts of your body, its primary effect is on the central nervous system. As a result, children with Angelman syndrome almost always have seizures, which can be dangerous to them and frightening to parents. In order to control seizures, they require anticonvulsants, such as topiramate or clobazam.
In addition to the central nervous system, Angelman syndrome also causes physical developmental disabilities. As a result, your child will likely require physical therapy to teach them how to stand, walk, and move on their own. Physical therapy can also help strengthen bones and muscles that are naturally weakened due to delayed development and immobility.
One of the potential side effects of Angelman syndrome is delayed speaking or the inability to speak at all. This will start at an early age when children normally babble before they can speak. Children with Angelman syndrome will babble very little or not at all, which will translate to speaking difficulties. In some cases, children with Angelman syndrome never learn to speak at all unless they receive speech therapy to teach them.
If your child is unable to learn how to speak, they will need to learn alternative methods of communication. This could include learning how to use a computer to talk for them, learning sign language, or special signalling.
While the central nervous system helps control the body’s involuntary movements and functions, it is also responsible for behavioural development. Therefore, children with Angelman syndrome will struggle to regulate their moods, act appropriately, and focus, resulting in ADHD, mood instability, and erratic behaviour. To combat these symptoms, they may need cognitive behavioural therapy to teach them how to act, focus, and self-regulate.
In some cases, physical therapy is not enough to teach children how to walk and to strengthen their bones. Therefore, as they continue to progress, learn, and get stronger, they may need assistive braces and devices. This includes walking boots and foot braces to make walking and standing easier.
While there is no cure for Angelman syndrome, and it is a chronic genetic condition that will never go away, there are treatments that can help manage symptoms. However, regardless of how well children respond to Angelman syndrome treatments, they will require lifelong support and assistance. As such, it is easy for parents to get overwhelmed taking care of their children, so it is important for you to take care of yourself and seek counselling and assistance when necessary.