Angelman Syndrome
In past years Angelman Syndrome was thought to be very rare, but it is more likely that children were misdiagnosed as having cerebral palsy or an autistic spectrum disorder. In theory, a knowledgeable pediatrician could diagnose AS within the first few years of a child’s life, since the developmental delays are usually evident between the ages of 6 and 12 months (ASF website). In reality, though, a correct diagnosis can take years and involve a great deal of trial and error. Even when parents and doctors recognize that something is “wrong” with a child’s development, it can take years to arrive at the label of Angelman Syndrome. The actual incidence of AS is currently thought to be around 1 in 15,000 (Williams). According to the Knowledge Database of the Swedish National Board of Health and Welfare, “approximately 3 percent of all children under the age of 15 with severe intellectual disabilities have Angelman Syndrome.” In past years, Angelman Syndrome has been referred to as the “Happy Puppet Syndrome,” because individuals typically have a very happy demeanor and may laugh at inappropriate times. Individuals with AS and their caretakers now consider this term offensive, and it should not be used.
Families of “angels” share many experiences with the families of other children with special needs. There can be the previously mentioned trouble with establishing a diagnosis, confusion as to what AS is, and fear of what the future holds. Since these children will require care long after most would be more independent, families often find themselves modifying their environment or worrying about things that do not seem age-appropriate, such as a teenager being too close to water. In general, individuals with AS do not have the more intense medical needs that would be expected with a disorder such as cerebral palsy, or the behavioral problems that can accompany an autistic spectrum disorder. However, AS definitely presents its own unique challenges for families. Accessibility can become an issue because of the problems with motor skills. “Angels” may have trouble negotiating stairs, walking long distances, or simply maintaining balance. Children with AS often require constant supervision and attention. Their natural curiosity and short attention span means that they are capable of putting themselves in danger. As often happens in the families of children with special needs, the typically developing siblings can feel resentful or neglected since their AS sibling requires so much extra time and attention. Parents often feel as though they are neglecting their less needy children, and yet they can be easily overwhelmed by the needs of their “special” child. This can create a great deal of stress within a household. Support groups for parents and siblings can help all members of the family to work out these feelings in an effective and healthy way.
As young children, individuals with AS often display hyperactivity, a short attention span, a reduced need for sleep, a love of water, seizure disorders, and a generally happy demeanor (Miles). The children are moderately to severely mentally handicapped with very delayed speech development. Often, they do not progress beyond the level of a three year-old. Their receptive language is often much more advanced than their expressive language, although most children with AS can learn some form of expressive communication. Early intervention is important for children with AS, and typically focuses on physical, occupational, and speech therapy (ASF website). This early intervention can start children on the road to being as independent and functional as possible. It can also be a way of giving parents a rest from constantly caring for their child, although effective early intervention also involves the parents.
In terms of education, children with AS are generally best served by a curriculum emphasizing daily living and self-help skills. The ASF website makes the point that, “Consistent behavior modification in the school and at home can enable the AS child to be toilet trained (schedule-trained), and to perform most self help skills related to eating, dressing and performing general activities in the home.” Instruction focused on a general curriculum would probably not benefit most students with AS. However, correlation between what is done at home and at school is particularly important. These children learn slowly, but they are capable of learning. When the same skills are being taught at home and at school, the learning process is more effective and less confusing for the individual. With consistent reinforcement in both the home and school settings, “angels” can learn many daily living and self-help skills.
In schools, individuals with AS may require the full range of assistive services in order to meaningfully benefit from their education. As the Angelman Syndrome Foundation (ASF) website suggests,
The severe developmental delay in AS mandates that a full range of early training and enrichment programs be made available. Unstable or nonambulatory children may also benefit from physical therapy. Occupational therapy may help improve fine motor and oral-motor control. Special adaptive chairs or positioners may be required at various times, especially for hypotonic or extremely ataxic children. Speech and communication therapy is essential and should focus on nonverbal methods of communication. Augmentative communication aids, such as picture cards or communication boards, should be used at the earliest appropriate time.
Since children with AS often have trouble communicating verbally, sign language, picture cards or books, and communication boards can all become important tools. These devices enable individuals to communicate when verbal skills are severely delayed or nonexistent. When the same augmentative communication system is used at home and at school, the individual will likely be more successful at using the device, particularly since many individuals with AS will never communicate verbally. Since most children have some motor difficulties, physical therapy is often beneficial. Children with AS could conceivably be integrated into a regular classroom with the help of a one on one aide or assistant. The main benefits of this integration would be social, and could include learning to behave in socially acceptable ways. Children with AS could also conceivably be served in a more restrictive setting such as a resource room or a separate classroom.
As they grow older, “angels” can continue to learn and grow. They do not regress in their development, but are able to keep learning and developing new skills. Often seizures decrease or even disappear as an individual gets older. Hyperactivity and abnormal sleep patterns also tend to become less significant as “angels” get older. Puberty may be delayed by several years, but physically children seem to develop normally. However, individuals with AS retain their distinctively cheerful demeanor and affection. This can become less socially appropriate as a person grows older. Individuals with AS may have to be taught to refrain from displaying affection in certain situations where their actions may not be appropriate. Academic classrooms may become less appropriate for individuals in the secondary years because they will likely be many years behind their classmates both academically and socially, although responsible inclusion can still provide many benefits.
As individuals with AS reach adulthood, their health is often described as, “remarkably good.” Scoliosis and ataxia can begin to affect the ability to walk, but these can both be treated if they are caught in time (ASF website). “Angels” seem to have a lifespan that is not dramatically shortened by their disability. The major hurdle, as usual, is maximizing independence and quality of life. According to John Miles, “The majority of those with AS achieve continence by day and some by night. Dressing skills are variable and usually limited to items of clothing without buttons or zips. Most adults are able to eat with a knife or spoon and fork. Although no one to date with AS has been capable of living independently, they can learn to perform simple household tasks and are perhaps best suited to life in a community care home.” As with many individuals with special needs, seemingly smaller victories and signs of progress represent major accomplishments and increased independence for both children and adults. Many individuals are capable of learning some vocational skills and working in a workshop-type environment. Since individuals will probably not be able to live independently, families have to determine an appropriate residential and occupational situation for an older individual with AS. For many families the preference is for the individual to live at home for as long as possible, but there is a point where that is no longer possible or practical. One of the most common fears that parents of individuals with special needs express is, “what will happen when I/we can no longer care for them?” Fortunately, the options range from independent living with or without support, to group homes to more institutional settings. In the right situation, “angels” can live a quality life that is as independent and fulfilling as possible.
