What is Angelman Syndrome?

A little girl standing & wearing her communication device
Angelman Syndrome (AS) is a rare neuro-genetic disorder that affects approximately 1:15,000 live births. Characteristics include developmental disability, balance and coordination challenges, epilepsy, disrupted sleep, and complex communication needs. Individuals with AS typically have a profound expressive language disorder, however their receptive understanding far exceeds their expressive ability. Augmentative and Alternative Communication (AAC) is vitally important to bridge this gap. While individuals with AS require assistance throughout their life, with the right support they continuously learn and progress!

LEARN MORE ABOUT ANGELMAN SYNDROME:
Foundation for Angelman Syndrome Therapeutics
Angelman Syndrome StrengthsAngelman Syndrome Strengths AS Strengths AS & CommunicationAS & Communication AS & Communication AS & Anxiety, Sensory Needs & Behavior AS & Anxiety, Sensory Needs & Behavior AS & Anxiety, Sensory Needs & Behavior AS & VisionAS & Vision AS & Vision

Angelman Syndrome Strengths

Two little kids on ground wearing their AAC devices
Girl wearing an AAAC device
Individuals with Angelman Syndrome present with a variety of relative strengths. They are usually extremely social, enjoying interaction with others. Individuals with AS tend to be very attuned to social cues, constantly monitoring those around them to help be informed of changes that may happen. For example, a child with AS may wave goodbye as soon as a visitor reaches for his keys or her purse.
They tend to be aware of even informal repeated routines, noticing if something changes. Hyperacoustic hearing can be a feature of Angelman Syndrome, meaning the individual with AS hears and attends to sound which others may not hear or may hear only as part of the background noise. A child with AS may hear a car door open and close several houses down the street. In general, a child with AS needs the sounds they are attending to be labeled before they can refocus on other things. Similarly, those with AS tend to love music. Music can be used in a variety of ways to focus, calm or engage a child or adult with AS.
Kid with an AAC device mounted on wheelchair watching a dog in the yard
People with AS also tend to walk a tightrope between happy anticipation and anxiety. They may love anything that builds happy anticipation from simple things like a jack in the box toy or a knock at the door to knowing they are going to get in the car to more complex things like understanding they are going to go on vacation. However, it is easy for that happy anticipation to tip into anxiety and worry. A set of directly taught and reinforced communication and coping skills can help with anticipatory anxiety.

Angelman Syndrome & Communication

APRAXIA & DYSPRAXIA
Individuals with Angelman Syndrome frequently display symptoms of apraxia and/or dyspraxia. Apraxia is the inability to perform a movement or task despite understanding the request, despite having the desire and physical capability to carry it out.
In Angelman Syndrome, apraxia is associated with absence of speech, as well as other motor planning challenges. According to the American Speech-Language-Hearing Association, "to speak, messages need to go from your brain to your mouth. These messages tell the muscles how and when to move to make sounds. If [an individual] has an apraxia of speech, the messages do not get through correctly". This same motor planning deficit also makes it very difficult to learn to use sign language and perform other motor tasks.

Individuals who do not speak may often be misjudged as having a lack of intelligence or decreased desire to communicate (communicative intent). It is extremely important to remember that a profound discrepancy between receptive language and expressive language is a hallmark of Angelman Syndrome. A common statement about individuals who are non-speaking is, "Just because I cannot speak doesn't mean I have nothing to say." Augmentative and Alternative Communication (AAC) can provide the tools to allow individuals with Angelman Syndrome who have apraxia a means to share what they have to say. When individuals with Angelman Syndrome are provided with access to language through robust AAC and appropriate interventions they have the potential to learn to become autonomous communicators.
AUTONOMOUS COMMUNICATION
Angelman Academy believes the ultimate goal of every individual with complex communication challenges is autonomous communication.
It is the job of the communication partner to support each individual to find her or his own unique voice through the use of Augmentative and Alternative Communication. Each AAC user should be supported to express their own individual thoughts and intentions. We can do this by assessing the needs of the individual and providing appropriate access to a robust vocabulary.
TYPES OF COMMUNICATION
Individuals with Angelman Syndrome are multi-modal communicators.
They employ a variety of strategies to get their message across, such as facial expressions, gestures, sign language, vocalizations, and a variety of other non-electronic and electronic Augmentative and Alternative Communication systems, such as symbol communication boards and books, AAC apps or AAC dedicated communication devices. At Angelman Academy, our fundamental belief is that you need to have the words in order to say what you want to say! We believe all individuals with communication needs have the right to have all their communication methods acknowledged and to have unfettered access to a robust vocabulary. All individuals have the right to support and instruction consistent with best practice.
ROBUST LANGUAGE SYSTEMS
Autonomy is defined as being able to say to say whatever you want to say, in the way you want to say it, to whomever you want to say it, whenever you want to say it (Gayle Porter, 2012)
It is for this reason that Angelman Academy promotes access to a robust vocabulary of words.
A robust vocabulary enables our individuals with AS to communicate across a range of communication functions (request, comment, ask questions, answer questions, greetings, and express emotions).
Many educators and therapists feel the need to isolate the skill of choice making as a precursor to AAC use. However, evidence based practice and current research tells us that an AAC user should be provided with access to a large selection of words in order to find the motivation to communicate her or his intentions.
This type of logic may seem very obvious but it is logic that has been wrongly applied to understanding language acquisition in children with complex communication needs. What we know and what the research such as Sennott, Light, and McNaughton (2016) tells us, is that we must put in exactly what we expect to get back, and we must be extremely patient in doing so when asking an individual to successfully overcome profound motor planning and other challenges
Read Article: AAC Modeling Intervention Research Review
AIDED LANGUAGE STIMULATION
A typical baby is spoken to for over a year before we have any expectation of even hearing a single word in response. And we certainly don't expect a response in a different language! It's important to point out here that we would never speak to a baby in English and expect to hear a response in German, right?
This type of logic may seem very obvious but it is logic that has been wrongly applied to understanding language acquisition in children with complex communication needs. What we know and what the research tells us, is that we must put in exactly what we expect to get back, and we must be extremely patient in doing so when asking an individual to successfully overcome profound motor planning and other challenges.

When teaching a child with complex communication needs we must speak to them in the language they will use to speak back to us. If they will be speaking to us using a symbol based communication system, then we speak to them using a symbol based communication system along with our verbal speech. This is called many things: aided language input (ALI), partner augmented input (PAI), aided language stimulation (ALgS) but most often it is called modeling. We model language by using the child's communication system as we talk to them. For beginning AAC learners (of any age) we may do this for 18 months or more before the child may be able to show they have learned both language and how to access their communication system. For early AAC learners we continue to model as we speak to teach more vocabulary, functions of language, and grammar. With a typical child using oral speech adults intervene to teach vocabulary and grammar until the child is about 7 or 8 years old, and often older. Additionally, language acquisition experts will tell you that the best way to learn a language is through immersion. Immersion, in this context, means being exposed to the language or language system being learned, in this case AAC, across all environments, including incidental environments such as overhearing conversations between others, at least 70% of the time. To maximize learning of AAC systems we must strive for consistent, ongoing and intensive aided language input across all environments and interactions as much of the time as possible.

AS & Anxiety, Sensory Needs & Behavior

Illustration of the owl mascot with a dvice
Many individuals with Angelman Syndrome use behavior as a means of communication and to quell what can be significant anxiety. In Angelman Syndrome anxiety often arises from a variety of sources including separation from caregivers, changes in routines and schedules, unexpected or difficult to understand demands, difficulty understanding changing expectations, visitors and new people and other situations.
Individuals with Angelman Syndrome often times use a coping technique learned in infancy of establishing eye contact with a caregiver to create a secure base and feel safe. When they are unable to ask for this eye contact in a conventional manner, such as speech, signs or use of an AAC system they may resort to throwing, hitting or hair pulling. Hair pulling is a particularly common way people with AS seek eye contact and relief from anxiety.

Similar to asking for eye contact through aggressive behavior a child or adult with AS might use behavior to communicate for other reasons. For example, she may drop to the floor to refuse a request to move to a new space or change tasks or he may throw items to indicate he is excited or finished with a task. Teaching an appropriate means of communicating these messages can be an effective way to decrease these behaviors.
Sensory
It is important to determine, through observation and analysis, what meanings various behaviors may have and then create a way for the child to communicate those needs. A button in a communication system which says, "look at me" can be taught to replace behaviors seeking eye contact. A button which says, "I need a break" or "I don't want to" can help with behaviors seeking to avoid or end an activity.

Those with Angelman Syndrome might also have difficulties modulating their sensory state. They often seek out deep pressure through pushing, kicking or biting on objects, or by jumping or crashing. They may also seek out vestibular stimulation through swinging or spinning. Having sensory items available and teaching and reinforcing their use can help decrease difficult sensory related behaviors. A therapy ball or mini-trampoline can help with deep pressure to the body and items designed for chewing can help with biting or chewing on clothing. Stress balls and therapy putty or clay can help with a desire to pinch or squeeze. Additionally, swings and spinning toys like a sit and spin might help with the need for vestibular stimulation.

Music can also be an effective means to help with anxiety and/or sensory needs. Matching the mood of music to the current state of the child and then gradually moving it towards a calm, 60 beats per minute song can be helpful. Some children and adults might also have calming or alerting response to various songs or styles of music. Careful observation can allow for the creation of calming, alerting or engaging playlists.

Angelman Syndrome & Vision

VISION CHALLENGES
There are several conditions that can affect the vision of individuals with Angelman Syndrome. Cortical/Cerebral Vision Impairment, and Strabismus are two disorders that are seen in the AS population. Each requires specific accommodations for access to education and AAC. Additionally, individuals with Angelman Syndrome may present with certain vision differences such as frequently using peripheral vision or a difficulty sustaining visual attention. These differences, while not associated with specific visual impairments, should be recognized and accommodations provided, if needed.

Vision Challenges
CEREBRAL/cortical VISION IMPAIRMENT (CVI)
CVI is a neurological condition that impacts the visual part of the brain. A person with CVI often has healthy eyes but difficulty processing visual information. Characteristics of CVI include preferences for certain colors, familiar items and environments, and items that are closer.
Those with CVI may engage in light gazing behaviors and have a need for movement, uncluttered or simplified visual environments and for items to be in a particular visual field. Often times individuals with CVI have delayed visual latency and decreased or absent visual reflexes. Difficulty coordinating vision and hearing or vision and motor movements often occur in CVI resulting in, for example, a tendency to be unable to look at and reach for an item at the same time. Over time and through proper interventions like vision therapy and modifying environments, people with CVI can improve their functional vision.
LEARN MORE ABOUT CVI
CVI Scotland
STRABISMUS
Strabismus is a disorder, caused by neuromuscular difficulty, in which the eyes are misaligned and do not fixate on the same point simultaneously. Often one eye focuses on an object of interest while the other eye wanders outward or inward. Strabismus can result in double vision or difficulty with depth perception. It can be improved through therapy, eyeglasses and sometimes surgery.
Vision challenges should not serve as a deterrent for educational intervention, including literacy, or introduction and use of AAC. A teacher of the visually impaired, special educator and speech therapist can help modify educational materials, home and school environments and Augmentative and Alternative Communication(AAC) systems to meet the needs of an individual with vision impairment.