Navigating The Emotional Impacts Of Angelman Syndrome, A Genetic Disorder
According to the Angelman Syndrome Foundation, Angelman syndrome affects approximately one in every 15,000 live births around the world. This rare neurogenetic disorder can lead to delayed development in speech, challenges related to movement, and a variety of other symptoms. The syndrome can have a profound impact not only on the person living with the disorder but also on their parents and caregivers. Here, we’ll discuss Angelman syndrome and some of the challenges commonly faced by families affected by this disorder.
Angelman syndrome and its effects on the nervous system and related functions
Angelman syndrome can have a profound impact on the nervous system of a person living with it. Children who are born with this disorder tend to have developmental delays that parents may notice between six and 12 months after birth. For example, a child may have a severe speech impairment and not babble or make similar noises at all before 12 months.
Individuals living with Angelman syndrome also tend to have recurrent seizures that may start in early childhood and occur throughout life, although they may become less frequent with age. Children with this condition also tend to have trouble with movement and balance in addition to experiencing sleep disturbances.
Despite these symptoms, people living with Angelman syndrome—especially children—typically have a happy disposition, with plenty of smiling and frequent laughter. They often demonstrate a positive demeanor and may flap their hands when they become excited.
The gene often involved in this genetic disorder
Researchers believe that most cases of Angelman syndrome are related to a genetic variant of the UBE3A gene. Specifically, loss of function of this gene in the 15th maternal chromosome can lead to a lack of active copies of the gene in certain parts of the brain, which can lead to neurological challenges.
Angelman syndrome, autism, and clinical trials
Angelman syndrome can have some symptoms in common with autism spectrum disorder and Prader Willi syndrome (PWS). However, Angelman syndrome is a distinct condition caused by a genetic variant, whereas autism is a broader developmental condition often diagnosed by observation. Differential diagnosis is often necessary for clinicians to not misdiagnose Angelman syndrome. This process may involve a molecular diagnosis to distinguish Angelman syndrome from PWS.
The potential effects of Angelman syndrome on parents and other family members
Angelman syndrome may affect the mental health of the family members and caregivers of the person with the disorder in numerous ways. One of the main concerns that parents and caregivers often have is the risk of seizures, which tend to be common in children with the syndrome. Parents may worry that a child could have a seizure while briefly unattended, which could represent a significant danger.
Caregivers may also worry that children with a balance disorder like Angelman syndrome may end up falling and hurting themselves. Also, some children living with Angelman syndrome experience a fascination with water, which may pose a danger if a child wanders away toward a swimming pool or other body of water—especially combined with risk of seizures and balance challenges.
Another common challenge that parents and caregivers face is a disrupted sleep schedule. Many children living with Angelman syndrome sleep less than what is considered typical for their age. They may have difficulty falling asleep, which can lead family members to take turns staying up with them at different times of the night. Also, parents may worry about symptoms of gastroesophageal reflux disease, which can be common in children living with Angelman syndrome. All of these health and safety concerns can cause stress and anxiety in parents and caregivers.
Mental health support for family members
Parents, caregivers, and other family members of a child with Angelman syndrome may benefit from speaking with a licensed therapist. Parents may experience a diverse array of emotions, from immense joy and pride to stress and fear of something happening to their child. A therapist can help them process these complex emotions and implement strategies to mitigate stress and bolster their own mental health as they care for their child. In addition, joining an in-person or virtual support group for parents of children with special needs may be beneficial.
Online mental health support for parents and caregivers
For many parents of a child living with Angelman syndrome, finding time for in-person therapy sessions can be challenging, since it often requires finding another caregiver who understands their child’s special needs. In such cases, caregivers may benefit from seeking out online therapy instead, which allows them to connect with a therapist virtually from home at times that suit their schedule.
Online therapy through a platform like BetterHelp also allows individuals to reach out to their therapist at any time via in-app messaging, and their therapist will reply as soon as they can. This feature may be useful for days or nights when parents are especially concerned about their child while also juggling other responsibilities.
In addition to offering flexible scheduling, research indicates that online therapy may often be effective for addressing various mental disorders. For example, one review published in the journal Cureus suggests that online cognitive behavioral therapy (CBT)—an evidence-based practice—can be effective for treating depression, generalized anxiety disorder, panic disorder, and adjustment disorder, among others.
Takeaway
How was Angelman syndrome discovered?
Angelman syndrome was first discovered by Dr. Harry Angelman, an English physician who observed three children with similar symptoms. The syndrome was eventually named after Dr. Angelman in the 1980s after further research confirmed that the condition was more common than researchers previously thought.
What specific gene is involved in this genetic disorder?
Researchers believe that the UBE3A gene is involved in many cases of Angelman syndrome. That said, some cases may be related to an undetermined variant that doesn’t involve the UBE3A gene.
How do children with Angelman syndrome communicate?
Many children living with Angelman syndrome experience difficulty with verbal communication. They may use gestures or signs instead, and some parents may work with their child on learning sign language to communicate.
Are there new clinical trials for Angelman syndrome?
The Angelman Syndrome Foundation lists several clinical trials that researchers are currently conducting to learn more about this syndrome. You can find this list on their website.
How does Angelman syndrome affect the nervous system?
Angelman syndrome can lead to difficulty with movement, with some affected children having a more wide-based gait and difficulty with balance. Also, changes in the brain and nervous system can cause seizures in many people living with this syndrome, though this symptom may improve with age.
Is Angelman syndrome an intellectual disability?
Angelman syndrome is considered a neuro-genetic disorder that often involves an intellectual disability as well. The condition can lead to severe developmental delay, but early intervention and occupational therapy may result in improvement. Most people living with the syndrome have a near normal life expectancy.
What activities should a child with Angelman syndrome do?
Children with Angelman syndrome can benefit from playing at the park (with assistance), practicing picking up different objects and placing them into containers, and drawing with sidewalk chalk. As individuals with this syndrome often display jerky movements and hypermotoric behavior, activities that promote fine motor skills can be helpful. Speech therapy, occupational therapy, and physical therapy are frequently recommended as well.
What do people with Angelman syndrome struggle with?
People with Angelman syndrome often struggle with the following:
- Developmental delays
- Speech and balance difficulties
- Seizures
- Sleep problems (usually getting less sleep than the general population)
- Feeding issues
- Gastrointestinal issues
- Increased sensitivity to heat
Additional symptoms can include a small head size by age two, hand-flapping movements, and certain facial features, such as crossed eyes and a wide mouth. Angelman syndrome was initially referred to as “happy puppet syndrome,” and people with the syndrome were sometimes called “puppet children.”
The diagnostic process for Angelman syndrome usually involves a blood test and genetic tests. These tests can look at medical genetics to determine whether there are missing chromosomes or gene changes, which can be important to distinguish this syndrome from others with similar symptoms, such as cerebral palsy.
In some individuals, a genetic change leading to problems with the imprinting center of chromosome 15 is linked to Angelman syndrome. EEG abnormalities with a characteristic pattern are sometimes seen in these individuals. Family history and the maternal copy of chromosome 15 can affect whether people develop this syndrome. The average age of diagnosis ranges from six months to four years.
How does Angelman syndrome affect behavior?
Many children with Angelman syndrome display hyperactivity and a shortened attention span. They may smile frequently and have a generally happy, upbeat demeanor.
How are families affected by Angelman syndrome?
Family members often act as caregivers for children with Angelman syndrome. According to a 2023 study, this can lead to increased rates of stress, anxiety, and depression. The same study noted that parents’ productivity and career choices were often impacted. It can be important to seek professional help if you’re a caregiver who is struggling with your mental health.
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