Living With Angelman Syndrome

Angelman syndrome (AS) is a neurological disorder that causes physical and intellectual disabilities. People with Angelman usually experience developmental delays, behavioral abnormalities, movement difficulties, and trouble communicating.

Nonetheless, various programs and interventions can help patients and their families. According to the Angelman Syndrome Foundation, “Individuals with AS will require life-long care, but can live long, happy lives.”

Nutrition and digestive issues

Babies with Angelman syndrome may experience feeding difficulties. These can be addressed using modified breast feeding methods, or strategies such as special nipples to help infants with a poor ability to suck.

Other gastrointestinal complaints can largely be treated symptomatically. For example, constipation can be treated with laxatives, and gastroesophageal reflux (also called acid reflux) can be managed with medications that help food to move through the digestive tract (prokinetic agents).

Older children and adults with Angelman syndrome tend to be overweight due to multiple factors such as genetic disposition, an abnormal sense of satiety, and mobility problems. A healthy lifestyle, including proper nutrition and regular physical activity, can help to control weight gain.

Sleep problems

Children with Angelman syndrome frequently experience difficulty sleeping. Over-the-counter medications, such as melatonin and diphenhydramine (sold as Benadryl, among others) may be helpful in regulating sleep in some children; for others, prescription-strength medicines may be recommended.

Having a routine for bedtime may make sleep easier, as can a comfortable sleeping environment with soft clothing, a suitable temperature, little or no light, etc.

Seizures

Seizures can be treated symptomatically, using medications called anticonvulsants. Examples of anticonvulsants that may be effective in Angelman patients include levetiracetam, lamotrigine, and clobazam. Notably, some anticonvulsants — namely carbamazepine, oxcarbazepine, and vigabatrin — should not be used in people with Angelman syndrome, as they are ineffective and can make seizures worse.

A ketogenic diet, including foods high in fat and low in carbohydrates, may help to control seizures, particularly in individuals for whom medications are not effective. Vagus nerve stimulation — where a device is surgically implanted and sends electrical signals to the brain to disrupt seizure activity — also may be used.

Movement problems

Angelman syndrome patients experience walking problems and compromised motor skills. Physiotherapy exercises and occupational therapy can help to improve motor skills.

A physiotherapist may recommend braces to help with walking difficulties, or back braces to help prevent scoliosis or curvature of the spine. In some instances, surgery may be recommended to ensure the legs are properly aligned with each other.

Due to the combination of motor and intellectual difficulties, people with Angelman syndrome, especially young children, may be particularly prone to accidents. Accommodations, like giving children extra space and making sure their environment is free from potential obstacles, can help to ensure safety.

Behavioral issues

Children with Angelman syndrome are commonly hyperactive and have short attention spans. They often experience anxiety, which can lead to challenging behaviors such as self-injury or aggression. Behavioral therapy can help address these challenging behaviors.

Minimizing stressors can help children with Angelman who may have difficult regulating their emotions. Typically stressors like unexpected changes in routine or large crowds of people can be challenging. Effective communication, such as clearly setting expectations about future changes, can help make these challenges more manageable.

Often, behaviors of “acting out” — such as pulling hair, hitting, or biting — are a result of children struggling to make themselves understood, and feeling unable to communicate. Providing patients, especially children, with ample and varied ways to express themselves can help to make it easier to deal with challenging behaviors.

Communication difficulties

Patients may struggle to express themselves verbally, since most have limited or no ability to speak. However, most people with Angelman are able to effectively communicate through non-verbal methods, ranging from simple gesturing to using assistive communication devices.

Notably, individuals with Angelman usually are able to understand things that are communicated to them to a greater extent than they are able to communicate for themselves.

Speech and language therapy can help to improve verbal communication skills or help in finding and refining alternative means of communication. Patients can benefit from learning sign language or using forms of augmentative and alternative communication (AAC). For example, electronic application such as “Speak for Yourself” can help patients to express themselves, even if they cannot do so through typical speech.

Education

Some children with Angelman will attend specialized education programs. Others can participate in mainstream education, but require an individual education plan (IEP). An IEP contains curriculum modifications and special accommodations to meet a child’s particular educational needs.

Specific teaching techniques, such as chaining, have been shown to be effective for children with Angelman. Chaining is a strategy in which each sequential step in a task is taught individually. For example, children learning to wash their hands might first learn to turn on a faucet, then learn to put their hands in the water, and so on, before learning to do all of these steps in sequence.

Young people with the disorder are usually able and eager to learn. They may do it in their own way and at their own pace, but their intellectual capabilities are not to be underestimated. Teachers, parents, and caregivers should try to enable children to do as many things as possible on their own, which usually makes them proud of their accomplishments and motivates them for further progress.

Transitioning to adulthood

Transitioning to adulthood is a complicated process for any child, and people with Angelman are no exception. A variety of steps can be taken, starting in early adolescence and continuing into full adulthood, to make this transition go as smoothly as possible for all involved. Broadly, this involves ensuring that legal and logistical matters are dealt with so that patients have access to necessities (housing, healthcare, etc.) and are set up for success. The Angelman Syndrome Foundation provides a checklist of steps that can be taken throughout adolescence to help smooth the transition into adulthood.

Many adults with Angelman live independently from their families, either in their own homes with support, or in a residential or care environment. It is typical for adults with Angelman to have active social lives and be engaged in community activities.

Last updated: May 10, 2021

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Angelman Syndrome News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.