References
1. Hodapp, R. M. (1997). Direct and Indirect Behavioral Effects of Different Genetic Disorders of Mental Retardation. American Journal on Mental Retardation, 102, 67-79.
2. Bryson, Y., Sakati, N., Nyhan, W., & Fish, C. (1971). Self-mutilative behavior in the Cornelia de Lange Syndrome. American Journal of Mental Deficiency, 76, 319-324.
3. Shear, C., Nyhan, W., Kirman, B., & Stern, J. (1971). Self-mutilative behavior as a feature of the de Lange Syndrome. The Journal of Pediatrics, 78, 506-508.
4. Nyhan, W. (1972). Clinical features of the Lesch- Nyhan Syndrome. Archives of International Medicine, 130, 187.
5. Dykens, E. M. (1995). Measuring Behavioral Phenotypes: Provocations From the ‘New Genetics’. American Journal on Mental Retardation, 99, 522-532.
6. Dykens, E. M., Hodapp, R. M., & Finucane, B. (2000). Genetics and Mental Retardation Syndromes. London: Paul H Brookes Publishing Co.
7. Hodapp, R. M. (1999). Indirect effects of genetic mental retardation disorders: Theoretical and methodological issues. International Review of Research in Mental Retardation, 22, 27-47.
8. Beck, B. & Fenger, K. (1985). Mortality, pathological findings and causes of death in the de Lange Syndrome. Acta Paediatrica Scandinavia, 74, 765- 769.
9. Ireland, M., English, C., Cross, I., Houlsby, W. T & Burn, J. (1991). A de novo translocation t(3;17)(q26.3;q23.1) in a child with Cornelia de Lange Syndrome. Journal of Medical Genetics, 28, 639-640.
10. Ireland, M., English, C., Cross, I., Lindsay, S., & Strachan, T. (1995). Partial trisomy-3q and the mild Cornelia-de-Lange-Syndrome phenotype. Journal of Medical Genetics, 32, 837-838.
11. Ireland, M., Donnai, D., & Burn, J. (1993). Brachmann-de Lange Syndrome - delineation of the clinical phenotype. American Journal of Medical Genetics, 47, 959-964.
12. Jackson, L., Kline, A. D., Barr, M. A., & Koch, S. (1993). De Lange-Syndrome - a clinical review of 310 individuals. American Journal of Medical Genetics, 47, 940-946.
13. Berney, T. P., Ireland, M., & Burn, J. (1999). Behavioural phenotype of Cornelia de Lange Syndrome. Archives of Disease in Childhood, 81, 333-336.
14. Beck, B. (1987). Psycho-social assessment of 36 de Lange patients. Journal of Mental Deficiency Research, 31, 251-257.
15. Sarimski, K. (1997). Communication, social-emotional development and parenting stress in Cornelia-de-Lange Syndrome. Journal of Intellectual Disability Research, 41, 70-75.
16. Hyman, P., Oliver, C., & Hall, S. (2002). Self-injurious behavior, self-restraint, and compulsive Behaviors in Cornelia de Lange Syndrome. American Journal on Mental Retardation, 107, 146-154.
17. Clayton-Smith, J., & Pembrey, M. E. (1992). Angelman Syndrome. Journal of Medical Genetics, 29, 412-415.
18. Steffenburg, S., Gillberg, C. L., Steffenburg, U., & Kyllerman, M. (1996). Autism in Angelman Syndrome: A population-based study. Pediatric Neurology, 14, 131-136.
19. Chan, C. T. J., Clayton-Smith, J., Cheng, X. J., Buxton, J., Webb, T., Pembrey, M. E., & Malcolm, S. (1993). Molecular mechanisms in Angelman Syndrome: a survey of 93 patients. Journal of Medical Genetics, 30, 895-902.
20. Clayton-Smith, J. (1993). Clinical Research on Angelman Syndrome in the United Kingdom: Observations on 82 affected individuals. American Journal of Medical Genetics, 46, 12-15.
21. Smith, A., Wiles, C., Haan, E., McGill, J., Wallace, G., Dixon, J., Selby, R., Colley, A., Marks, R., & Trent, R. J. (1996). Clinical features in 27 patients with Angelman Syndrome resulting from DNA deletion. Journal of Medical Genetics, 33, 107-112.
22. Summers, J. A. & Feldman, M. A. (1999). Distinctive pattern of behavioral functioning in Angelman Syndrome. American Journal on Mental Retardation, 104, 376-384.
23. Summers, J. A., Allison, D. B., Lynch, P. S., & Sandler, L. (1995). Behavior problems in Angelman Syndrome. Journal of Intellectual Disability Research, 39, 97-106.
24. Overhauser, J., Huang, X., Gersh, M., Wilson, W., McMahon, J., Bengtsson U., Rojas, K., Meyer, M.. & Wasmuth, J. J. (1994). Molecular and phenotypic mapping of the short arm of chromosome 5: Sublocalization of the critical region for the Cri du Chat Syndrome. Human Molecular Genetics, 63, 301-304.
25. Cornish, K. M., Munir, F., & Bramble, D. (1998). Adaptive and maladaptive behaviour in children with Cri-du-chat Syndrome. Journal of Applied Research in Intellectual Disabilities, 11, 239-246.
26. Dykens, E. M. & Clarke, D. J. (1997). Correlates of maladaptive behavior in individuals with 5p-(Cri du Chat) syndrome. Developmental Medicine and Child Neurology, 39, 752-756.
27. Collins, M. S. R. & Cornish, K. (2002). A survey of the prevalence of stereotypy, self-injury and aggression in children and young adults with Cri du Chat Syndrome. Journal of Intellectual Disability Research, 46, 133-140.
28. Crawhall, J. C., Henderson, J. F., & Kelley, W. M. (1972). Diagnosis and treatment of the Lesch- Nyhan Syndrome. Pediatric Research, 6, 504-513. 29. Stout & Caskey (1989; O’Brien, G. & Yule, W. (1995). Behavioral Phenotypes. London, Mac Keith Press.
30. O’Brien, G. & Yule, W. (1995). Behavioral Phenotypes. London, Mac Keith Press. 31. Christie, R., Bay, C., Kaufman, I. A., Bakay, B., Borden, M., & Nyhan, W. L. (1982). Lesch-Nyhan disease: Clinical experience with nineteen patients. Developmental Medicine and Child Neurology, 24, 293-306.
32. Anderson, L. T., & Ernst, M. (1994). Self-injury in Lesch-Nyhan disease. Journal of Autism and Developmental Disorders, 24, 67 - 81. 33. Hagberg, B. (1985). Rett’s Syndrome: A prevalence and impact on progressive severe mental retardation in girls. Acta Paediatrica Scandinavia, 74, 405-408.
34. Ellison, K. A., Fill, C. P., Terwilliger, J., DeGennaro, A., Martin-Gallardo, Anvret, M., Percy, A. K., Ott, J., & Zoghbi, H. (1992). Examination of X chromosome markers in Rett Syndrome: Exclusion mapping with a novel variation on multilocus linkage analysis. American Journal of Human Genetics, 50, 278-287.
35. Perry, A. (1991). Rett Syndrome: A comprehensive review of the literature. American Journal on Mental Retardation, 96, 275-290.
36. Van Acker, R. (1991). Rett Syndrome: A review of current knowledge. Journal of Autism and Developmental Disorder, 21, 381-406.
37. Coleman, M., Brubaker, J., Hunter, K., & Smith, G. (1988). Rett Syndrome: A survey of North American patients. Journal of Mental Deficiency Research, 32, 117-124.
38. Mount, R., Hastings, R., Reilly, S., Cass, H., & Charman, T. (2001). Behavioural and emotional features in Rett Syndrome. Disability and Rehabilitation, 23, 129-138.
39. Sansom, D., Krishnan, V. H. R., Corbett, J., & Kerr, A. (1993). Emotional and behavioral-aspects of Rett Syndrome. Developmental Medicine and Child Neurology, 35, 340-345.
40. Burd, L., Vesely, B., Martsolf, J., & Kerbeshian, J. (1990). Prevalence study of Prader-Willi Syndrome in North Dakota. American Journal of Medical Genetics, 37, 97 - 99.
41. Ledbetter, D. H., Mascarello, J. T., Riccardo, V. M., Harper, V. D., Aairhart, S. D., & Strobel, R. J. (1982). Chromosome 15 abnormalities and the Prader-Willi Syndrome: A follow up report of 40 cases. American Journal of Human Genetics, 34, 278 - 285.
42. Donaldson, M. D. C., Chi, C. E., Cooke, A., Wilson, A., Greene, S. A., Stephenson, J. B. P. (1994). The Prader-Willi Syndrome. Archives of Disease in Childhood, 70, 58-63.
43. Couper, R. T. L. (1999). Prader-Willi Syndrome. Journal of Paediatric and Child Health, 35, 331 - 334.
44. Cassidy, S. B. (1997). Prader-Willi Syndrome. Journal of Medical Genetics, 34, 917 - 923.
45. Greenberg, F., Guzzetta, V., de Oca-Luna, R. M., Magenis, R. E., Smith, A. C. M., Richter, S. F., Kondo, I., Dobyns, W. B., Patel, P. I., & Lupski, J. R. (1991). Molecular analysis of the Smith- Magenis Syndrome: A possible contiguous gene syndrome associated with del (17)(p11.2). American Journal of Human Genetics, 49, 1207 - 1218.
46. Smith, A. C. M., McGavran, L., Robinson, J., Waldstein, G., Macfarlane, J., Zonona, J., Reiss, J., Lahr, M., Allen, L., & Magenis, E. (1986). Interstitial deletion of (17)(p11.2p11.2) in nine patients. American Journal of Medical Genetics, 24, 393 - 414.
47. Allanson, J. E, Greenberg, F., & Smith, A. C. M. (1999). The face of Smith-Magenis Syndrome: a subjective and objective study. Journal of Medical Genetics, 36, 394-397.
48. Greenberg, F., Guzzetta, V., de Oca-Luna, R. M., Magenis, R. E., Smith, A. C. M., Richter, S. F., Kondo, I., Dobyns, W. B., Patel, P. I., & Lupski, J. R. (1991). Molecular analysis of the Smith- Magenis Syndrome: A possible contiguous gene syndrome associated with del (17)(p11.2). American Journal of Human Genetics, 49, 1207 - 1218.
49. Greenberg, F., Lewis, R. A. Potocki, L., Glaze, D., Parkem J., Killian, J., Murphy, M. A., Williamson, D., Brown, F., Dutton, R., McCluggage, C., Friedman, E., Sulek, M., & Lupski, J. R. (1996). Multi-disciplinary clinical study of Smith-Magenis Syndrome (deletion 17p11.2). American Journal of Medical Genetics, 62, 247 - 254.
50. Colley, A. F., Leversha, M. A., Voullaire, L. E. & Rogers, J. G. (1990). Five cases demonstrating the distinctive behavioural features of chromosome deletion 17 (p11.2 p11.2) (Smith-Magenis Syndrome). Journal of Paediatrics and Child Health, 26, 17 - 21.
51. Dykens. E. M., (1999). Direct Effects Genetic Mental Retardation Syndromes: Maladaptive Behavior and Psychopathology. International Review of Research in Mental Retardation, 22, 1- 26.
52. Finucane, B. M., Konar, D., Haas-Givler, B. Kurtz, M., & Scott, C. I. (1993). Self-hugging as a diagnostic marker in Smith-Magenis Syndrome. American Journal of Human Genetics, 53, 431.
53. Finucane, B. M., Konar, D., Haas-Givler, B. Kurtz, M., & Scott, C. I. (1994). The spasmodic upper body squeeze: a characteristic behavior in Smith- Magenis Syndrome. Developmental Medicine and Child Neurology, 36, 70 - 83.