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Slomski 3Definition and Description of the Disorder In 1965, Dr.

Harry Angelman published three case studies documenting his work with clients presenting with symptoms of what he described as Happy Puppet Syndrome, (Angelman, 1965). The children he saw presented with severe intellectual disability (ID), mental retardation (MR), delayed physical development, dysmorphic facial and skull features, ataxic, jerky muscular movements, characteristically abnormal EEG readings, seizures, microcephaly, inability to speak, and an unusual and

inappropriately happy demeanor, (Bonati et al. 2007). Understanding that patients might find the Happy Puppet Syndrome designation unnecessarily stigmatizing, researchers now refer to this disorder as Angelman Syndrome (AS). Angelman Syndrome is a genetic disorder caused by abnormalities of the maternally inherited chromosome 15q11-q13, (Walz, 2007). If the missing or abnormal chromosome 15 is of paternal origin, the resulting diagnosis is Prader-Willi syndrome, (van den Borne et al, 1999). There are several abnormalities of this chromosomal region that may lead to a diagnosis of AS. Deletion, point mutation, and paternal uniparental disomy (UPD): inheriting two chromosomes from the father, all manifest phenotypically as Angelman Syndrome (Clayton-Smith 2001). The different genetic profiles cause unique phenotypic outcomes. Research shows that maternal deletion accounts for 70-75% of diagnosed AS cases, and causes the most profound mental and physical abnormalities. A very small percentage of AS patients (23%) have no detectable chromosomal abnormalities, (Clayton-Smith, 2001). Patients with a maternal deletion are less likely to develop expressive language skills and more likely to develop seizures, while UPD patients may develop some vocabulary words, and are


less likely to suffer from epilepsy, (Horsler & Oliver, 2006). People diagnosed with point mutations of the affected chromosome present with symptom severity somewhere between UPD patients and deletion patients. (Walz, 2007). Despite Angelmans seminal work in 1965 and the adoption of official clinical criteria in 1995, (Horsler, & Oliver, 2006), AS is still commonly misdiagnosed as an autism spectrum disorder. Both disorders are linked to genetic abnormalities, and most of these abnormalities can be linked to the same chromosome, (Walz, 2007). Angelman and autistic patients share many physical and behavioral similarities, (Bonati et al 2007.) However, Angelman patients are characteristically more social and outgoing, whereas autistic individuals are not as easily engaged in interactions with others or the environment, (Horsler & Oliver 2006). Early Clinical and Behavioral Issues Angelman syndrome occurs in between 1 in 10,000 and 1 in 20,000 births, (Walz, 2007). The early developmental delays can easily be mistaken for symptoms of autismspectrum disorders. (Clayton-Smith & Laan, 2003). However, in a (2007) study, Walz reports that the differences between autistic children and children with Angelman syndrome become apparent as children age. He reports that children with AS are generally social, outgoing, and respond positively to social stimuli. In contrast, children with autism-spectrum disorders present with pervasive social deficits and extreme unease in some social situations. In their (2003) review of clinical and behavioral characteristics, Clayton-Smith and Laan report a multitude of difficulties these children may experience in reaching developmental milestones. Problems begin in infancy when children do not learn to suck

Slomski and feed effectively. As children grow older, they may also have difficulty swallowing and accepting solid foods. Babies with AS sit up alone around 12 months of age, do not crawl until 18-24 months, and often do not walk, or cannot walk without assistance before age four. More severe cases have been reported in which the child does not walk until age seven. Their gait is often ataxic and jerky, with arms pulled up and flexed at their sides. Sterotyped behaviors such as hand and finger flapping, staring, licking, and self-stimulating vocalizations are also common, (Walz, 2007). Children with AS often experience sleep disturbances and night and day incontinence past the appropriate developmental age for toilet training. Enforcement of bedtimes helps with sleep disturbances, but many children will continue to experience night-time incontinence into adulthood,(Beckung, 2004). Early interventions with occupational and physical therapy have shown some success in decreasing stereotypic behaviors and increasing walking ability, (Walz, 2007). Communicating and Verbalizations Communication deficits are a prominent feature of Angelman syndrome, (Clayton-Smith & Laan, 2003). Laughter is easily stimulated at only a few weeks old, long before normally developing children learn to laugh, and these fits of laughter are often inappropriate as the child gets older, (Walz, 2007). Most patients with AS are nonverbal, with adults being capable of speaking two to three words. They are generally capable of learning basic commands and of communicating about basic needs through gesturing. A few may be able to learn sign language, (Clayton-Smith & Laan, 2003). Children with AS, in particular, may seem easily aggravated, aggressive or frustrated because of their inability to communicate, (Walz, 2007). As the children age and learn

Slomski basic communication of their needs, behavior generally improves. However, straying from the childs familiar routine may cause the child to experience stress and to act out accordingly, (Walz, 2007). Seizures

Seizure disorders are common in Angelman syndrome, occurring in up to 80% of identified AS cases. Ohtsuka et al (2005) reported that all AS patients, regardless of seizure status, have characteristically abnormal EEG patterns. Seizures usually begin in the second or third year of life and continue into adulthood. Seizures generally begin with febrile convulsions in infancy. Throughout childhood, a variety of types of seizures, including tonic-clonic, complex- partial, myoclonic, and atonic, may be observed, (Clayton-Smith & Laan, 2003). In tonic-clonic seizures, the child falls unconscious and muscles tense. Extremities are drawn up toward the body and sometimes moaning or other vocalizations occur. Amnesia following this type of seizure is common. In complex-partial seizures, the child may seem out of it, and outsiders observe coordinated but purposeless behaviors such as lip smacking, fidgeting, and walking. In myoclonic seizures, sporadic, jerky movements are observed. In atonic seizures, the child loses all muscle tone in the arms and legs, which could result in falls and injuries, (Carcione, 2007). Some research suggests that the frequency of seizures may decrease as the person ages, but a large number of adults with AS continue to have epileptic seizures. Seizures are controlled in children with anticonvulsant medications with mixed success, (Horsler & Oliver, 2006).


Educating Children With Special Needs In 1975, the Individuals With Disabilities Education Act (IDEA), mandated that individuals with disabilities should be provided the same educational rights and privileges as their non-disabled counterparts, (Williamson, et al, 2006). IDEA currently mandates that individuals with severe mental retardation be educated in the least restrictive environment possible. (LRE). The definition of LRE, the effectiveness of mainstream classrooms in educating students with severe intellectual disabilities, and the effectiveness of segregating MR and ID students into special education classrooms with specially trained teachers, are all part of the ongoing debate over how to appropriately educate children with special needs, (Williamson, et al, 2006). It has been found that children with mild to severe MR status benefit from interacting socially with their normally developing peers. Effects on academic success are less clear, with studies indicating mixed outcomes (Williamson, et al 2006). Due to the extreme mental retardation and intellectual disability characteristic of the disorder, children with Angelman Syndrome have difficulty in mainstream classrooms. They require intensive special education instruction, round the clock supervision and assistance with self-help skills such as feeding, bathing, toileting, and dressing, (Clayton-Smith & Laan, 2003), but due to their generally social and happy demeanor as compared to other MR students, children with AS may find the general education classroom particularly socially rewarding, (Williamson, et al 2006).


Parenting a Disabled Child Parents of disabled children face unique challenges in caring for their child with special needs and in maintaining their own psychological and physical well-being. Upon learning that their child is disabled, parents may experience fear, depression, worry, reduced satisfaction in their marriage, practical and financial problems, problems with educational systems, and reduced levels of self-esteem and self-confidence, (van den Borne, et al 1999). Sen & Yurtsever (2007), identified primary, secondary, and tertiary reactions that parents may experience upon receiving the news of a disability. In the primary stage, shock is common, followed by denial. Crying and feelings of helplessness are characteristic of this stage. Suffering and depression may be acute once the parents come to terms with the idea of giving up the vision of their perfect child. These emotions may be exacerbated if the child is in particularly poor health, exhibits difficult temperament or behavioral problems, has low social responsiveness, limited social skills, or unusual caretaking demands, (van den Borne, et al, 1999). According to Sen & Yurtsever (2007), secondary reactions include feelings of guilt along with the perception that the parents caused the childs disability. Feelings of indecision, anger, and shame are also commonplace in this stage. Depending upon the ability of the family to adapt to new and stressful situations, family members may neglect one anothers emotional needs, blame each other, or take much longer than allowed to make necessary medical decisions.

Slomski The tertiary reactions addressed by Sen & Yurtsever (2007), are bargaining, acceptance, and adaptation. In bargaining, the parents, desperate for their child to be a healthy, normal child, may attempt to bargain with anyone from health care

professionals, to God. Regardless of the compassion and expertise of the childs doctors, they do not accept that their child is disabled. In the final tertiary reactions discussed by Sen & Yurtsever (2007), the parents begin to accept and adapt to the fact that their child is disabled and will require special care. This means that they begin to accept the additional responsibilities and obstacles that having a disabled child entails. This may include special education, physical therapy, and finding the additional financial and social resources that will help the family adapt to their new life circumstances. In addition, Sen & Yurtsever (2007), discussed their research with parents of children with various levels of disability. Their findings suggest that parents of children with all types of disabilities experience similar barriers when dealing with the education system and the general public. Their participants specifically mentioned having been denied services due to their childs disability, inadequate numbers of trained workers to meet their disabled childs needs, prejudice and fear surrounding their childs disability, limited knowledge of disabilities, and problems transporting children with mobility impairments. As a result of the perceived inability of public childcare facilities to appropriately care for children with disabilities, parents themselves end up being the primary caregivers for their disabled children, and mothers are the primary caregivers more often than fathers, (Sen & Yurtsever, 2007). When one parent must stay home to be the primary caregiver for a disabled child, the family must survive on one income, despite the

Slomski additional expenses that caring for a disabled child requires. For this reason, 28% of


disabled children live in households with incomes below the poverty line, and non-poor families spend an average of 7% of their income on care for their disabled child. In addition to financial difficulties, parents who are primary caretakers report high levels of social isolation, martial problems, and depression due to their preoccupation with caretaking, (Sen & Yurtsever, 2007). van den Borne et al, (1999) compared psychological needs of parents of children with Prader-Willi and Angelman Syndromes. Both sets of parents were measured on uncertainty, negative feelings, depression, loss of control, self-esteem, and coping strategies. They found that parents of children with both disabilities required a high level of information, but Angelman syndrome parents indicated more uncertainty and a greater need for information than Prader-Willi parents. The authors speculated that this stems from the fact that Angelman Syndrome is the lesser known disorder. Quality information and support groups for AS have only recently become available. van den Borne et al, (1999) went further to examine feelings of negativity associated with being the parent of a child with Angelman or Prader-Willi Syndrome. For the purposes of their study, negativity was defined as fear for negative consequences for the child and fear for negative consequences for the parents. Both groups of parents had a greater sense of fear of negative consequences for their children than for themselves. Again, Angelman parents expressed higher overall negative feelings than PraderWilli parents. Parents in both groups expressed the fear of losing patience with their child and fear of not being taken seriously, as well as fear of needing to depend on others because of the increased commitment of caring for a disabled child. Finally, parents of



children with Angelman and Prader-Willi syndromes identified feeling out of control of their lives. Understandably, they reported feeling like their hands were tied and that they were significantly less able to handle everyday stressors with the addition of challenging caretaking roles, (van den Borne et al, 1999). The Importance of Informal Support Parents of children with disabilities rely on a network of trained professionals to assist them in the care of their child. However, in a recent study by Lindblad et al (2007), parents reported that their most valuable support came not from doctors and other health professionals, but from informal supports such as community outreach, grandparents, extended family, and close friends. Parents report their lives as less stressful when they feel that their disabled children are accepted into the family, (Lindblad, et al. 2007). This means that they are as valued and respected as other siblings or children in the family. It is also expected that the immediate family should have some knowledge and awareness of the implications and consequences of the childs disability. Knowledge of and interest in the child is interpreted by parents as genuine caring and concern, (Lindblad, et al 2007). Parents also report garnering emotional strength from the knowledge that their disabled child is accepted by the community at large. They particularly value signs of acceptance from the childs teachers and same-age peers such as seeking the child out for play dates, or inquiring about the childs well-being at home. This alleviates some of the stress surrounding the worry that the child will not have friends or be accepted socially, (Lindblad, et al 2007).

Slomski Finally, parents of disabled children rely on their closest friends. Parents in Lindblad et als (2007) study reported calling on close friends for everything from


personal emotional support to last-minute childcare. Parents particularly valued the close friends who communicated that they did not view the disabled child as a barrier to friendship. They understood that the parents had additional caretaking responsibilities and took a genuine interest in those responsibilities. They also provided emotional support to parents during difficult times, or when the daily tasks of caring for a child with a disability became too emotionally stressful. Parents indicated that they were particularly grateful for those friends who allowed them to talk repeatedly about issues with their disabled children without allowing them to obsess over their problems, (Lindblad, et al, 2007). Treating Angelman Syndrome and Conclusion Bringing together the literature on the special needs of children with Angelman Syndrome, (Beckung, 2004; Clayton-Smith & Laan, 2003; Horsler & Oliver, 2006; Walz, 2007), and the literature on the special needs and coping strategies of parents of children with disabilities, (van den Borne, et. al, 1999; Sen & Yurtsever, 2007), one can conclude that AS is a complicated disorder with many presenting behavioral and physical abnormalities. Physical, speech, and occupational therapies are often prescribed for the physically debilitating aspects of AS such as the difficulty swallowing, difficulty with speech, incontinence, stereotypic behaviors such as hand flapping, and the abnormal muscle tone and ataxic gate usually present in the disorder, (Beckung, 2004). In general education classrooms, special education teachers pay particularly close attention to functional behavior analysis and the individual education plan (IEP) of each individual

Slomski MR student. In the case of a student with AS, these services are particularly important, (Williamson, et al, 2006). The parental stress of raising a child with AS cannot be overstated, (van den


Borne, et. al, 2006). Parents must make decisions ranging from educational placement, to what types of therapies to participate in, (van den Borne, 2006). They must cope with the financial demands that long-term care of a child with AS necessitates. They must learn to rely on external support systems. And they must maintain a normal existence for themselves and the rest of the family, including non-disabled siblings and extended kin, (Lindblad, et al 2007). Part of parents and professionals difficulties stem from the fact that Angelman Syndrome is still relatively unknown compared to other more common genetic disorders such as Downs Syndrome and Prader-Willi Syndrome, (van den Borne, 2006). Additional research is needed on AS and on the particular effects of this disorder on child, parent, and family quality of life.

Slomski Works Cited Angelman, H. (1965). Puppet children: a report of three children. Journal of Developmental Medicine and Child Neurology, 7. 681-688


Beckung, E., Steffenburg, S, Kyllerman, M. (2004). Motor impairments, neurological signs, and developmental level in individuals with Angelman syndrome. Developmental Medicine & Child Neurology, 46. 239-243.

Bonati, M. T., Russo, S., Finelli, P., Valsecchi, M. R., Cogliati, F., et al. (2007). Evaluation of autism traits in Angelman syndrome : a resoure to unfold autism genes. Neurogenetics, 8. 169-178.

Carcione, J.R. (2007). Epilepsy guide. WebMD. 1-2.

Clayton-Smith, J. (2001). Angelman syndrome: evolution of the phenotype in adolescents and adults. Developmental Medicine & Child Neurology,43. 476-480.

Clayton-Smith, J. & Laan, L. (2003). Angelman syndrome: a review of the clinical and genetic aspects. Journal of Medical Genetics,40,(2).87-89.

Horsler, K. & Oliver, C. (2006). The behavioural phenotype of Angelman syndrome. Journal of Intellectual Disability Research, 50,(1). 33-53.



Lindblad, B., Holritz-Rasmussen, B., & Sandman, Per-Olof. (2007). A life enriching togetherness-meanings of informal support when being a parent of a child with disability.

Ohtsuka, Y., Kobayashi, K, Yoshinaga, H., Ogino, al. (2005). Relationship between severity of epilepsy and developmental outcome in Angelman syndrome. Brain and Development, 27. 95-100.

Sen, E. & Yurtsever, S. (2007). Difficulties experienced by families with disabled children. Journal for Specialists in Pediatric Nursing, 12,(4). 238-252.

van den Borne, H.W., van Hooren, R.H., van Gestel, M., Rienmeijer, al. (1999). Psychosocial problems, coping strategies, and the need for information of children with Prader-Willi syndrome and Angelman syndrome. Patient Education and Counseling, 38. 205-216. Walz, N. C. (2007). Parent report of stereotyped behaviors, social interaction, and developmental disturbances in individuals with Angelman syndrome. Journal of Autism and Developmental Disorders,37. 940-947.. Williamson, P., Mcleskey, J., Hoppey, D., & Rentz, T. (2006). Educating students with mental retardation in general education classrooms. Exceptional Children,72(3). 347-361.