프래더윌리증후군의 특성 및 행동관리 전략 고찰 = A Review on Characteristics of Prader-Willi Syndrome and Strategy of Behavioral Management

국문 초록 (Abstract)

프래더윌리증후군은 15번 염색체 이상으로 나타나는 유전질환으로 비만, 저신장 등의 내분기계 이 상, 피부 뜯기, 강박행동과 분노발작 등과 같은 다양한 임상 양상을 보인다. 이러한 행동이 조기에 관 리되지 않으면 가정과 학교생활에서의 실패는 물론 자립생활도 어려워지게 된다. 우리나라의 경우 이 증후군에 대해 주로 의학적 진단과 분자유전학적 측면에 대한 몇 편의 연구로 국한되어 있다. 이에 본 연구는 문헌연구를 토대로 프래더윌리증후군 아동의 대표적인 특성과 행동관리 전략을 제시함으 로써 프래더윌리증후군 아동의 학부모와 교사들에게 조기 진단의 기회를 제공하고, 이들 아동의 효율 적인 학교생활과 성인이 되었을 때의 삶의 질 향상을 위해 필요한 전략을 제공한다는데 의의를 둔다. 프래더윌리증후군 아동은 비만과 근긴장저하, 수면장애 등 공통된 특성을 가지고 있기도 하지만 또한 장기기억이나 동시적 과제 처리능력은 다른 능력보다 우수하는 등의 그들만의 독특한 특성을 가지고 있다는 것을 알 수 있다. 이들 아동의 문제행동을 관리하기 위한 정확한 해결책은 없지만 행동관리를 위한 구조화된 일과표를 고안하거나 행동관리 보상체계를 사용하는 등 개별 특성에 맞춘 맞춤형 서 비스가 제공된다면 최대한 성공적인 결과를 도출할 수 있을 것이다.

다국어 초록 (Multilingual Abstract)

Prader-Willi Syndrome is a genetic disorder caused by abnormal chromosome 15 and shows the endocrine system disorder, such as obesity and low-height, and various clinical aspects, such as skin-picking, compulsive behavior and temper tantrum. If these behaviors are not managed in the early stage, the child with Prader-Willi Syndrome will fail not only in both home and school environments. He/she would not be able to get a job and maintain his/her independent life. In Korea, a limited rage of articles provided information on medical diagnosis and molecular genetics aspects. Thus, this study presented representative characteristics of Prader-Willi Syndrome and behavior management strategies by reviewing related literature. This purpose was (a) to provide parents and educational practitioners more information about Prader-Willi Syndrome, (b) to introduce an educational and clinical opportunities at the early stage of Prader-Willi Syndrome diagnosis, and (c) hopefully to help the children with Prader-Willi Syndromes receive effective school service for better life quality even after their school age. An individuals with Prader-Willi syndrome usually showed common characteristics such as obesity, hypotonia, and somnipathy.However, they would also showother characteristics such as better long-term memory or multitask processing comparing to other capabilities. The previeous articles demonstrated that individualized behavioral management strategies (e.g., structural daily schedule and reinforcement system) would be able to decrease their problem behaviors.

목차 (Table of Contents)

• Ⅰ. 서 론
• Ⅱ. 특성 및 관리 전략
• Ⅲ. 결론 및 제언
• 참고문헌

참고문헌 (Reference)

1 안동녀, "프래더 윌리 증후군 아동의 조음특성" 연세대학교 대학원 2005

2 조현찬, "프라더-윌리 증후군 진단적 접근"

3 신진숙, "유전적 지적장애 아동의 특성과 교수적 방안 탐색" 한국지적장애교육학회 10 (10): 1-21, 2008

4 김은주, "긍정적 행동지원이 프래더윌리 증후군 유아의 문제행동에 미치는 영향" 창원대학교 대학원 2012

5 Whitman, B. Y., "Understanding and managing the behavioral and psychological components of Prader-Willi syndrome" 3 : 3-11, 1995

6 Kleppe S. A., "The speech and language characteristics of children with Prader-Willi syndrome" 55 : 300-309, 1990

7 James, T. N., "The Prader-Willi syndrome adolescent in an educational setting" 9 (9): 13-17, 1985

8 Bray, G. A., "The Prader-Willi syndrome : a study of 40 patients on a review of the literature" 62 : 59-80, 1983

9 Addison, R., "Taxonomy of educational reinforcement" 19 : 24-45, 1979

10 진동규, "Systematic review of the clinical and genetic aspects of Prader-Willi syndrome" 대한소아과학회 54 (54): 55-63, 2011

11 Curfs, L. M. G., "Strengths and weaknesses in the cognitive profile of youngsters with Prader-Willi syndrome" 40 : 430-434, 1991

12 Lewis, B. A., "Speech and language skills of individuals with Prader-Willi syndrome" 11 : 285-294, 2002

13 Hodapp, R. M., "Special education and genetics" 33 (33): 130-137, 1999

14 Dykens, E. M., "Profiles, correlates, and trajectories of intelligence in Prader-Willi syndrome" 31 : 1125-1130, 1992

15 Butler. J. V., "Prevalence of, and risk factors for, physical ill-health in people with Prader-Willi syndrome : A population-based study" 44 : 248-255, 2002

16 Dykens, E. M., "Prader-Willi syndrome : Genetic, behavioral and treatment issues" 5 : 913-928, 1996

17 Holm, V. A., "Prader-Willi syndrome : Consensus diagnostic criteria" 91 : 398-402, 1993

18 Whyte, F., "Prader-Willi syndrome" 1998

19 Cassidy, S. B., "Prader-Willi syndrome" 34 : 917-923, 1997

20 Carr, E. G., "Positive behavior support : Evolution of an applied science" 4 (4): 4-16, 2002

21 Whittington, J. E., "Population prevalence and estimated birth incidence and mortality rate for people with Prader-Willi syndrome in one UK health region" 38 : 792-798, 2001

22 Campbell, S. K., "Physical therapy for children" W. B. Saunders Company 1994

23 Dykens, E. M., "Obsessions and compulsions in Prader-Willi syndrome" 37 : 995-1002, 1996

24 Holland, A. J, "Measurement of excessive appetite and metabolic changes in Prader-Willi syndrome" 17 : 527-532, 1993

25 Downey, D. A., "Management of Prander-Willi Syndrome" Springer-Verlag 142-155, 1995

26 Lewis, B. A., "Management of Prader-Willi syndrome" Springer-Verlag 2006

27 Chedd, N., "Management of Prader-Willi syndrome" Springer-Verlag 2006

28 Whiteman, B. Y., "Management of Prader-Willi Syndrome" Springer-Verlag 2006

29 Dykens, E. M., "Maladaptive behavior differences in Prader-Willi syndrome due to paternal deletion versus maternal uniparental disomy" 104 : 67-77, 1999

30 Roof, E., "Intellectual characteristics of Prader-Willi syndrome : Comparison of genetic subtypes" 44 : 25-30, 2000

31 Eiholzer, U., "Improving body composition and physical activity in Prader-Willi syndrome" 142 : 73-78, 2003

32 State, M. W., "Genetics of childhood disorders : XV. Prader-Willi syndrome : genes, brain, and behavior" 39 (39): 797-800, 2000

33 Dykens, E. M., "Direct effects of genetic mental retardation syndromes" 22 : 1-26, 1999

34 Dykens, E. M., "Correlates of maladaptive behavior in children and adults with Prader-Willi syndrome" 60 (60): 546-549, 1995

35 Olson, D. H., "Circumplex model of marital and family systems" 22 : 144-167, 2000

36 Holland, A. J., "Behavioural phenotypes associated with specific genetic disorders : evidence from a population based study of people with Prader-Willi syndrome" 33 : 141-153, 2003

37 Fidler, D. H., "Behavioral phenotypes and special education : parent report of educational issues for children with Down syndrome, Prader-Willi syndrome, and Williams syndrome" 36 (36): 80-88, 2002

38 Dykens, E. M., "Are jigsaw puzzles “spared” in persons with Prader-Willi syndrome?" 43 : 343-352, 2002

39 Hoffman, C. H., "A nutrition survey of and recommendations for individuals with Prader-Willi syndrome who live in group homes" 92 : 823-833, 1992

40 Waters, J., "A handbook for Parents and carers of Adults with Prader-Willi syndrome" Prader-Willi Syndrome Association(UK) 1999

41 Waters, J., "A Handbook for parents and carers of adults with Prader-Willi syndrome" Prader-Willi Syndrome Association (UK) 1996

42 김덕수, "15번 염색체에서 동일 유전자좌의 결실을 보이는 Prader-Willi 증후군과 Angelman 증후군에 관한 고찰" 10 (10): 226-234, 2002