Cognitive and behavioral functioning in coffin-siris syndrome and epilepsy: A case presentation

Journal of Genetic Psychology

Volumn 172, Issue 1, 2011, Pages 56-66

  Bender, H Allison ^a   Zaroff, Charles M ^b   Karantzoulis, Stella ^a   Nakhutina, Luba ^a   MacAllister, William S ^a   Luciano, Daniel ^a  

^a NEW YORK UNIVERSITY MEDICAL CENTER   (United States)

^b UNIVERSITY OF MACAU   (Macao)

Author keywords

genetic; intervention; neuropsychology; psychosocial

Indexed keywords

ACROCALLOSAL SYNDROME; ARTICLE; AUTISM; BEHAVIOR DISORDER; CASE REPORT; CHILD; COMMUNICATION AID; CONGENITAL MALFORMATION; DISABILITY; FACE; FOCAL EPILEPSY; GENETICS; GRAND MAL EPILEPSY; HAND MALFORMATION; HUMAN; LANGUAGE DISABILITY; MENTAL DEFICIENCY; MICROGNATHIA; MULTIPLE MALFORMATION SYNDROME; NECK; NEUROPSYCHOLOGICAL TEST; PSYCHOLOGICAL ASPECT; SOCIAL ADAPTATION; SOCIALIZATION; TEMPORAL LOBE EPILEPSY;

ABNORMALITIES, MULTIPLE; ACROCALLOSAL SYNDROME; CHILD; CHILD BEHAVIOR DISORDERS; CHILD DEVELOPMENT DISORDERS, PERVASIVE; COMMUNICATION AIDS FOR DISABLED; DISABILITY EVALUATION; EPILEPSIES, PARTIAL; EPILEPSY, COMPLEX PARTIAL; EPILEPSY, TONIC-CLONIC; FACE; HAND DEFORMITIES, CONGENITAL; HUMANS; LANGUAGE DEVELOPMENT DISORDERS; MENTAL RETARDATION; MICROGNATHISM; NECK; NEUROPSYCHOLOGICAL TESTS; SOCIAL ADJUSTMENT; SOCIALIZATION;

EID: 79251644466     PISSN: 00221325     EISSN: 19400896     Source Type: Journal    
DOI: 10.1080/00221325.2010.506604     Document Type: Article

References (25)

1. American Psychiatric Association (2000). Diagnostic and statistical manual of mental disorders (4th ed., text rev.). Washington, DC: Author.
2. Aman, M. G., Burrow, W. H., & Wolford, P. L. (1995). The Aberrant Behavior Checklist- Community: Factor validity and effect of subject variables for adults in group homes. American Journal on Mental Retardation, 100, 283-292.
3. Carey, J. C., & Hall, B. D. (1978). The Coffin-Siris syndrome: Five new cases including two siblings. American Journal of the Diseases of Children, 132, 667-671.
4. Coffin, G. S., & Siris, E. (1970).Mental retardation with absent fifth fingernail and terminal phalanx. American Journal of the Diseases of Children, 119, 433-439.
5. Delvaux, V., Moerman, P., & Fryns, J. P. (1998). Diaphragmatic hernia in the Coffin-Siris syndrome. Journal of Genetic Counseling, 9, 45-50.
6. Fleck, B. J., Pandya, A., Vanner, L., Kerkering, K., & Bodurtha, J. (2001). Coffin-Siris syndrome: Review and presentation of new cases from a questionnaire study. American Journal of Medical Genetics, 99(1), 1-7.
7. Gilliam, J. E. (1995). Gilliam Autism Rating Scale. Austin, TX: Pro-ed.
8. Hersh, J. H., Bloom, A. S., & Weisskopf, B. (1982). Childhood autism in a female with Coffin-Siris syndrome. Journal of Developmental and Behavioral Pediatrics, 3, 249-252.
9. Imai, T., Hattori, H., Miyazaki, M., Higuchi, Y., Adachi, S., & Nakahata, T. (2001). Dandy- Walker variant in Coffin-Siris syndrome. American Journal of Medical Genetics, 100, 152-155.
10. Kraijer, D.W. (1993). Autisme en Verwante Karakterstoornissenschaal Revised. Lisse, The Netherlands: Swets & Zeitlinger.
11. Kraijer, D. W., & Kema, G. N. (1990). Sociale Redzaamheidsschaal. Lisse, The Netherlands: Swets & Zeitlinger.
12. Levy, P., & Baraitser, M. (1991). Coffin-Siris syndrome. Journal of Medical Genetics, 28, 338-341.
13. McCarthy, D. (1972). Manual for the McCarthy Scales of Children's Abilities. New York, NY: The Psychological Corporation.
14. McGhee, E. M., Klump, C. J., Bitts, S.M., Cotter, P. D., & Lammer, E. J. (2000). Candidate region for Coffin-Siris syndrome at 7q32→34. American Journal of Medical Genetics, 93, 241-243.
15. McPherson, E. W., Laneri, G., Clemens, M. M., Kochmar, S. J., & Surti, U. (1997). Apparently balanced t(1;7)(q21.3;q34) in an infant with Coffin-Siris syndrome. American Journal of Medical Genetics, 71, 430-433.
16. Mullen, E. M. (1995). Mullen Scales of Early Learning (AGS ed.). Circle Pines, MN: American Guidance Service.
17. Reynolds, C., & Kamphaus, R. W. (2004). Behavior Assessment System for Children (2nd ed.). Circle Pines, MN: AGS Publishing.
18. Rutter, M., Bailey, A., & Lord, C. (2003). Social Communication Questionnaire (SCQ). Western Psychological Services
19. Sparrow, S. S., Balla, D. A., & Cicchetti, D. V. (1984). Vineland Adaptive Behavior Scales: Survey Form Manual. Circle Pines, MN: American Guidance Service.
20. Swillen, A., Glorieux, N., Peeters, M., & Fryns, J. P. (1995). The Coffin-Siris syndrome: data on mental development, language, behavior and social skills in 12 children. Clinical Genetics, 48, 177-182. doi: 10.1111/j.1399-0004.1995.tb04048.x
21. Temtamy, S. A., Kamel, A. K., Ismail, S., Helmy, N. A., Aglan, M. S., El Gammal, M., et al. (2007). Phenotypic and cytogenetic spectrum of 9p trisomy. Journal of Genetic Counseling, 18, 29-48.
22. Terman, L. M., & Merrill, M. A. (1973). Stanford-Binet Intelligence Scale Manual for the Third Revision Form L-M. Boston: Houghton-Mifflin.
23. Tunnessen,W.W. Jr., McMillan, J. A., & Levin, M. B. (1978). The Coffin-Siris syndrome. American Journal of the Diseases of Children, 132, 393-395.
24. Van de Meulen, B. F., & Smrkovsky, M. (1983). Bayley Developmental Scales (BOS 2-30) Dutch Edition. Manual. Lisse: Swets & Zeitlinger.
25. Van Haesen, P. P., Vanden Steene, G., De Bruyn, E. E., Coetsier, P., Pijl, Y. I., Spoelders-Claes, R., et al. (1986).Wechsler Intelligence Scale for Children-Revised. Dutch Edition. Lisse, The Netherlands: Swets & Zeitlinger.