The Angelman syndrome (AS), also called “The Happy Puppet Syndrome” is a very uncommon neuro-genetic disease. Just as any syndrome, it presents a number of symptoms that add up to into a certain medical condition. It is characterized by delay in general development, intellect and speech impairments, jerky unstable moves that are irrational as well, disturbance of sleep, seizures. The child also laughs quite often, and behaves joyfully in general. A critical gene inactivation or deletion on the chromosome 15, which is maternally inherited is considered to be the main cause of AS (Askenasy, 1987). A population-based study done in Sweden demonstrated a prevalence of about 1 AS case per 12 000 births (Steffenburg, Gillberg, Kyllerman, 1996). But these data are just estimates, as the study has been carried out in a small cohort of children and the time periods were various. It appears that there were no studies that involved detection of the AS rate among newborns. Due to the severe delay in mental abilities, as well as seizures, the longevity in AS patients is probably reduced; however there is not data that proves the above statement. Another problem is that some AS children stay undiagnosed. This makes it difficult to accurately determine how many people are actually living in our society with AS. If a child has AS, it is usually diagnosed from age 3 to age 7. That is when the features of the disorder are the clearest (Thompson, Butler, MaClean & Joseph, 1996). They include minimal verbal use – the child has much higher receptive skills, than expressive. Other common signs and symptoms of AS are balance and movement disorders (feet turned outward, limb tremor, irrational uncoordinated movements), uniqueness of behavior (smiles often, easy to excite, hypermotoric), microcephaly in some children, ocular and cutaneous hypopigmentation, heterophthalmia, prominent mandible, drooling, hyperactive tendon reflexes, uplifted arms during walking, flat occiput. Parents often experience feeding problems with their children. A child suffering from AS may also have their puberty delayed by up to 3 years, but the sexual maturation still occurs as it should. The patients usually can dress themselves, but usually excludes buttons and zippers. They might also master a few home tasks, but almost never live on their own (Switzky, 2001).
It’s important to keep in mind those children with AS are all different. They vary according to their mental, academic abilities, and their behavior. Some might require attending specialized schools or classes, while others will do better being stimulated by the school mainstream. However, there are by far not enough facilities for children with such problems. Some children may get their education in schools for individuals with severe or moderate learning difficulties and language disorders. All the positive and negative sides of such education differ, depending on the patient’s behavior and academic ability. This choice between the mainstream education, and special needs school poses a hard dilemma, especially for the parents. For most children with AS it is vital to get their education, as this factor is decisive in whether the individual is going to live his life up to the fullest possible capacity. It is hard for parents to understand and make a decision, as they are aware that regular school curriculum may appear difficult for their child. If we were to look from the other side, the parents also realize that limiting the child to a special needs group will limit their progress in the later life (Walker & Roberts, 2001). It is highly recommended that the parents have their AS child placed into a playgroup or a nursery as early in life as possible. This will help to clearly determine the child’s difficulties, as well as provide the necessary social experience. Usually the first few years of school are the most difficult for the child just as for the parents. The behavior of AS child may become more difficult, as he grows older. This can cause major problems at elementary school level. In some cases, a support of a specialist is required straight away, especially if there are clear behavioral disorders. But if the above problems are managed, it is possible for the child to be transferred to a mainstream educational institution. Again, the academic abilities and needs of a child with AS may vary greatly over time (Ainsworth & Baker, 2004). That is why it is important for the parents to get their son or daughter assessed regularly, in order to monitor their status. AS children sometimes find it difficult to perform transitions, for example moving from elementary school to middle school. Therefore it is recommended for the parents to provide essential support to their kids at these times. The depersonalized environment of middle school and high school poses even more problems for AS children. Because of constant teacher rotation, large amount of students, their difficulties may deteriorate even more. Because of this the child often gets bullied, set up by other kids. Generally such an individual has no friends. Because of their scattered approach to schoolwork the AS children usually get in trouble with the teachers, because of constant lateness and disorganization. It is very important that parents and teachers who deal with AS children receive the needed training that would help them cope more efficiently with this disorder. Successful managing of AS children is a significant difficulty, as all the children with this disorder manifest a wide range of difficulties. But substantial improvement occurs, when the right measures are taken. A lot of teachers can be puzzled by the difficulties of such individuals. A lot of them may think that these children are just lazy or naughty, rather than experiencing a mental disorder. Recognizing the fact that these children do require a special teaching approach with new teaching methods is the first step towards educating a child with such disability. It is very important to realize that the social impairment and difficulties in communication are the reason for the poor behavior. Therefore, it is vital to pin point and address these fields of deficit. The main concern of upbringing such a child is assistance in terms of social and communicative development, aggravating problem solving, as well as inhibiting the types of behaviors that prevent learning.
References
Ainsworth, P., & Baker, P. (2004). Understanding Mental Retardation. Jackson, MS: University Press of Mississippi.
Askenasy, J. J. (1987). The Functions and Dysfunctions of Laughter. Journal of General Psychology, 114(4), 317-334.
Atkinson, M., & Hornby, G. (2002). Mental Health Handbook for Schools. London: Routledge/Falmer.
Steffenburg S, Gillberg CL, Steffenburg U, Kyllerman M (1996). “Autism in Angelman syndrome: a population-based study”. Pediatr. Neurol. 14 (2): 131-6).
Switzky, H. N. (Ed.). (2001). Personality and Motivational Differences in Persons with Mental Retardation. Mahwah, NJ: Lawrence Erlbaum Associates.
Thompson, T., Butler, M. G., MaClean, W. E., & Joseph, B. (1996). Prader-Willi Syndrome: Genetics and Behavior. PJE. Peabody Journal of Education, 71(4), 187-212.