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The following compilation is a description of Prader-Willi Syndrome and Angelman Syndrome, two neurodevelopmental conditions, which will be examined, and through questioning, the search for evidence for a possible distinction between the two disorders. Samples of case studies, evolving around the inquiry of the ratio of male v. female diagnosis, will assist in creating a summary, and final report in the quest for the solution of how children affected by these two syndromes can be assisted with daily functions, such as education, will temporarily close this document but persist in being a corner stone in the continued research of Prader-Willi Syndrome and Angelman Syndrome.
Though the two disorders share symptoms, and distinguishable physical features, and are considered disorders resulting from the same affected chromosome region, 15q11-q13, according to the research results found at the Department of Pediatrics, Okayama University Graduate School of Medicine and Dentistry, based in Okayama, Japan; “PWS (Prader-Willi Syndrome) results from the loss of expression of paternally expressed genes and AS (Angelman Syndrome) of maternally based genes” (Ninomiya, Yokoyama, Kawakami, Une, Maruyama & Morishima, 541).
According to research outcomes cataloged at the Department of Pediatrics, National Taiwan University Hospital in Taiwan, “Phenotypes typically include severe to profound psychomotor retardation, abnormal EEG, infantile spasm/epilepsy, hypotonia, behavioral problems, and only mild dysmorphic features; a number of features common to PW or AS were….such as….small hands and feet….hyperextensible joints, seizure, language impairment, and strabismus” (Hou & Wang, 126). Case study examples of paternal/maternal inheritance
The following information is a compilation of research findings cataloged in the February 2005 issue of the Journal of Autism and Developmental Disorders, based upon clinical studies conducted in UK, and companioned by results achieved through the department of pediatrics at the Okayama University Graduate School of Medicine and Dentistry based in Okayama, Japan; their clinical studies were addressed in Pediatrics International (2005).
The research conducted and compiled in UK directly focuses upon paternal inheritance of PWS/AS, in which the patient (a five year old female), the parents, two siblings, and a paternal uncle were also tested for similar traits, to show genetic link to the patient of focus. Some of the characteristics examined were intellectual level, early speech and language development, and motor skill development, inidually, along with cataloging physical features present with the patient in comparison to her family members. Family history was taken into account with the following: “There is a family history of manic-depressive in a maternal grandparent and a psychiatric illness, which at stages has been attributed to depression or dementia in a paternal grandparent. In a maternal aunt there is a history of learning difficulties” (Veltman, Thompson, Craig, Dennis, Roberts, Moore, Brown & Bolton, 119).
The conclusion of the study conducted with the family was found that the mother didn’t possess the duplicated gene, although she generated a history of developmental delays and learning difficulties in the academic setting, according to Veltman, Thompson, Craig, Dennis, Roberts, Moore, Brown & Bolton. The father’s testing results showed that he carries the duplicated gene, and had reported a variety of developmental delays, such as walking and social interaction. He also reported having difficulties in the realm of academics, specifically mathematics. The results of the paternal uncle and siblings were no evidence of deficits with the uncle, and while neither sibling possessed the deficient gene in question, each displayed developmental delays throughout their histories, according to Veltman, Thompson, Craig, Dennis, Roberts, Brown & Bolton.
The clinical studies generated in Japan were focused upon the maternal inheritance of PWS/AS, and an 18 year old male patient was examined, and blood samples were also taken from the parents. The patient’s medical history, physical characteristics and developmental delays were discussed, as was the results to the testing conducted to produce the answer to paternal/maternal linkage for PWS/AS. Although research findings focused upon the “clinical features” of PWS, the following was stated in report: “The present case showed the deletion of the very small region from the maternal allele, an AS-like pattern, thought he has some clinical findings for PWS…..The difference may be caused by the range of negative regulation spreading. The findings of this study underpin the importance of a positive molecular study in patients with some clinical findings of PWS, and that some symptoms for PWS need the gene of biallelic expression adjacent to the narrow region” (Ninomiya, Yokoyama, Kawakami, Une, Maruyama & Morishima, 543, 544 & 545).
Is the necessity for more in-depth research needed for the maternal inheritance of the duplicate gene for PWS/AS? The question arises with the knowledge that PWS/AS does not possess a male v. female ratio like the findings in Autism Spectrum Disorders research found among male and female children; for every one girl diagnosed with ASD, there are four boys who will receive clinical diagnosis of the same disorder. There is also the question of how genetics counselors become involved to assist in prenatal diagnosis of PWS/AS. Are the possibilities of recurrence in additional children if the first or second child tests positive for the duplicate gene?
“Prader-Willi Syndrome (PWS) and Angelman Syndrome (AS) are associated with a loss of function of imprinted genes in the 15q11-q13 region mostly due to deletions or uniparental disomies (UPD). These anomalies usually occur de novo with a very low recurrence risk. However, in rare cases, familial translocations are observed, giving rise to a high recurrence risk” (Flori, Biancalana, Girard-Lemaire, Favre, Flori, Doray & Mandel, 181). What can be done to assist children with Prader-Willi/Angelman Syndrome?
Repetitive behavior was examined in children with PWS/AS and children with ASD (Autism Spectrum Disorders). While most of the findings paralleled each other, such as sameness with routines and habits (established activities and/or games played) and sensory sensitivity (different types of fabrics with certain clothes), there were significant differences noted, such as collection of objects, preferences for certain types of food, and lining up of objects (children with ASD are likely to line objects or toys in a row, especially on furniture). “Children with PWS showed similar levels of repetitive and ritualistic behavior overall to that seen in children with autism; however, there was some specificity in terms of type of repetitive behavior shown in the two groups. Future research should investigate whether these behavioural phenotypic similarities in PWS and autism are associated with a common neuropsychological, neurotransmitter or genetic origin” (Prince, Evans & Charman, 98).
Therefore, would the intervention methods implemented for children with ASD be applicable for children with PWS/AS, such as advocacy for these children and their right to education? Could parents of children with PWS/AS be supportive in the roles of negotiator, monitor, supporter, and advocate in conjunction with teachers within the school system?
Stoner and Angell submitted a report to Focus on Autism and Developmental Disabilities in 2006, that showed results collected from four families of children with ASD in the exploration of the involvement of parents with their child’s education. The 1997 IDEA (Iniduals with Disabilities Education Act) was immediately introduced in the beginning of the documentation, stating the parents’ legal rights to be involved in their children’s education; this applies to all children, regardless of disability.
Parents and educators are involved in the process of meetings to discuss IEP (Inidualized Education Program) strategy and IFSP (Inidualized Family Service Plan goals to develop objectives, interventions, or methods of evaluation, according to Stoner and Angell. “In more recent studies, parents of children with disabilities, including ASD, have reported having no involvement with IEP or IFSP plans, lack of choices in services, or lack of effective services” (Stoner & Angell, 178). If there is a lack of communication and involvement at times shown here with parents of children with ASD, could this problem cross over into parental involvement of parents with children with PWS/AS? Does parental trust of the education system become an issue?
Education professionals, teachers and administration, were given two recommendations, per Stoner and Angell’s report. “(1) Recognize the potential benefit of parents’ assuming multiple roles within the education setting and encourage parents to be fully engaged in their children’s education, and (2) Recognize that parents will vary in their levels of engagement in their children’s education” (Stoner & Angell, 186-87). Many parents have experienced negative interactions from both the medical and education communities when it came to formulating effective plans of care, monitoring, etc…when it came to their children; this sets the stage for apprehension towards trusting other professionals in these fields.
Prader-Willi/Angelman Syndromes, though sharing similar symptoms and characteristics, are set apart by inherited gene factors; PWS being paternal inheritance and AS being of maternal origin. Continued research is being conducted to monitor how the duplication of 15q11-q13 occurs, along with the possibilities of recurrence in families with children with PWS/AS.
How to assist children with PWS/AS, along with their families, is also being taken into consideration, and integrative methods applied to children with disabilities, such as ASD (Autism Spectrum Disorders), are being look into as a source of assistance in the search for intervention methods for children with Prader-Willi/Angelman Syndromes.
Continued research, involving participants of families and their children affected with PWS/AS, the differences and similarities of the disorders, the genetic links for each one, along with intervention methods for assisting children with PWS/AS, is the current recommended solution in the search for answers in assisting children with Prader-Willi/Angelman Syndrome.
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