Two boys with 47, XXY and autism

Journal of Autism and Developmental Disorders

Volumn 37, Issue 5, 2007, Pages 840-846

  Merhar, S L ^a,b   Manning Courtney, P ^b  

^a HOSPITAL OF THE UNIVERSITY OF PENNSYLVANIA   (United States)

^b CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

Author keywords

Autism; Autistic spectrum disorders; EEG; Epilepsy; Klinefelter syndrome

Indexed keywords

ANTICONVULSIVE AGENT; CITALOPRAM; CLOBAZAM; ETIRACETAM; FLUOXETINE; LAMOTRIGINE; MELATONIN; OXCARBAZEPINE; PAROXETINE; STEROID; VALPROIC ACID;

ANAMNESIS; ARTICLE; AUTISM; CASE REPORT; DIAGNOSTIC AND STATISTICAL MANUAL OF MENTAL DISORDERS; DRUG MEGADOSE; DRUG WITHDRAWAL; ELECTROENCEPHALOGRAM; EPILEPTIC DISCHARGE; HUMAN; KARYOTYPE 47,XXY; KLINEFELTER SYNDROME; LANGUAGE DISABILITY; MALE; MENTAL DEFICIENCY; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SEIZURE; SLEEP DISORDER; SOCIAL DISABILITY; SOCIAL INTERACTION;

AUTISTIC DISORDER; BRAIN; CHILD; DIAGNOSTIC AND STATISTICAL MANUAL OF MENTAL DISORDERS; ELECTROENCEPHALOGRAPHY; GENOTYPE; GLIOSIS; HUMANS; INTERPERSONAL RELATIONS; KARYOTYPING; KLINEFELTER SYNDROME; LANGUAGE DISORDERS; MAGNETIC RESONANCE IMAGING; MALE; MOTIVATION; SOCIAL BEHAVIOR;

EID: 34249072880     PISSN: 01623257     EISSN: 15733432     Source Type: Journal    
DOI: 10.1007/s10803-006-0211-1     Document Type: Article

References (48)

1. Auranen, M., Vanhala, R., Varilo, T., Ayers, K., Kempas, E., Ylisaukko-oja, T., Sinsheimer, J. S., Peltonen, L., & Jarvela, I. (2002). A genomewide screen for autism-spectrum disorders: Evidence for a major susceptibility locus on chromosome 3q25-27. American Journal of Human Genetics, 71, 777-790.
2. Ballaban-Gil, K., & Tuchman, R. (2000). Epilepsy and epileptiform EEG: Association with autism and language disorders.Mental Retardation and Developmental Disabilities Research Reviews, 6(4), 300-308.
3. Bender, B., Fry, E., Pennington, B., Puck, M., Salbenblatt, J., & Robinson, A. (1983). Speech and language development in 41 children with sex chromosome anomalies. Pediatrics, 71(2), 262-267.
4. Bojesen, A., Juul, S., & Gravholt, C. H. (2003). Prenatal and postnatal prevalence of Klinefelter syndrome: A national registry study. Journal of Clinical Endocrinology and Metabolism, 88(2), 622-626.
5. Boltshauser, E., Meyer, M., & Deonna, T. (1978). Klinefelter syndrome and neurological disease. Journal of Neurolinguistics, 219(4), 253-259.
6. Cohen, D., Pichard, N., Tordjman, S., Baumann, C., Burglen, L., Excoffier, E., Lazar, G., Mazet, P., Pinquier, C., Verloes, A., Heron, D. (2005). Specific genetic disorders and autism: clinical contribution towards their identification. Journal of Autism and Developmental Disorders, 35(1), 103-116.
7. Daoust, A. M., Limoges, E., Bolduc, C., Mottron, L., & Godbout, R. (2004). EEG spectral analysis of wakefulness and REM sleep in high functioning autistic spectrum disorders. Clinical Neurophysiology, 115(6), 1368-1373.
8. Elia, M., Musumeci, S. A., Ferri, R., & Bergonzi, P. (1995). Clinical and neurophysiological aspects of epilepsy in subjects with autism and mental retardation. American Journal of Mental Retard, 100(1), 6-16.
9. Elia, M., Musumeci, S. A., Ferri, R., Scuderi, C., Del Gracco, S., & Stefanini, M. C. (1995). Seizures in Klinefelter's syndrome: A clinical and EEG study of five patients. Italian Journal of Neurological Science, 16(4), 231-238.
10. Fiedlerova, D., Lichy, J., Zizka, J., & Balicek, P. (1975). Proceedings: EEG findings in children with Klinefelter's syndrome. Electroencephalography and Clinical Neurophysiology, 39(4), 439.
11. Filipek, P. A., Accardo, P. J., Baranek, G. T., Cook, E. H., Dawson, G., Gordon, B., Gravel, J. S., Johnson, C. P., Kallen, R. J., Levy, S. E., Minshew, N. J., Prizant, B. M., Rapin, I., Rogers, S. J., Stone, W. L., Teplin, S., Tuchman, R., & Volkmar, F. R. (1999). The screening and diagnosis of autistic spectrum disorders. Journal of Autism and Developmental Disorders, 29(6), 439-488.
12. Geschwind, D. H., Boone, K. B., Miller, B. L., & Swerdloff, R. S. (2000). Neurobehavioral phenotype of Klinefelter syndrome. Mental Retardation and Developmental Disabilities Research Reviews, 6(2), 107-116.
13. Gillberg, C., & Coleman, M. (1996). Autism and medical disorders: A review of the literature. Developmental Medicine and Child Neurology, 38(3), 191-202.
14. Graham, J. M. Jr., Bashir, A. S., Stark, R. E., Silbert, A., & Walzer, S. (1988). Oral and written language abilities of XXY boys: Implications for anticipatory guidance. Pediatrics, 81(6), 795-806.
15. Hollander, E., Dolgoff-Kaspar, R., Cartwright, C., Rawitt, R., & Novotny, S. (2001). An open trial of divalproex sodium in autism spectrum disorders. Journal of Clinical Psychiatry, 62(7), 530-534.
16. Jamain, S., Quach, H., Betancur, C., Rastam, M., Colineaux, C., Gillberg, I., Soderstrom, H., Giros, B., Leboyer, M., Gillberg, C., & Bourgeron, T. (2003). Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism. Nature Genetics, 34, 27-29.
17. Kawasaki, Y., Yokota, K., Shinomiya, M., Shimizu, Y., & Niwa, S. (1997). Brief report: Electroencephalographic paroxysmal activities in the frontal area emerged in middle childhood and during adolescence in a follow-up study of autism. Journal of Autism and Developmental Disorders, 27(5), 605-620.
18. Kielinen, M., Rantala, H., Timonen, E., Linna, S. L., & Moilanen, I. (2004). Associated medical disorders and disabilities in children with autistic disorder: A population-based study. Autism, 8(1), 49-60.
19. Kobayashi, R., & Murata, T. (1998). Setback phenomenon in autism and long-term prognosis. Acta Psychiatrica Scandinavica, 98(4), 296-303.
20. Konstantareas, M. M., & Homatidis, S. (1999). Chromosomal abnormalities in a series of children with autistic disorder. Journal of Autism and Developmental Disorders, 29(4), 275-285.
21. Lanfranco, F., Kamischke, A., Zitzmann, M., & Nieschlag, E. (2004). Klinefelter's syndrome. Lancet, 364(9430), 273-283.
22. Laumonnier, F., Bonnet-Brilhault, F., Gomot, M., Blanc, R., David, A., Moizard, M.-P., Raynaud, M., Ronce, N., Lemonnier, E., Calvas, P., Laudier, B., Chelly, J., Fryns, J.-P., Ropers, H.-H., Hamel, B., Andres, C., Barthelemy, C., Moraine, C., & Briault, S. (2004). X-linked mental retardation and autism are associated with a mutation in the NLGN-4 gene, a member of the neuroligin family. American Journal of Human Genetics, 74, 552-557.
23. Lewine, J. D., Andrews, R., Chez, M., Patil, A. A., Devinsky, O., Smith, M., Kanner, A., Davis, J. T., Funke, M., Jones, G., Chong, B., Provencal, S., Weisend, M., Lee, R. R., & Orrison, W. W. Jr. (1999). Magnetoencephalographic patterns of epileptiform activity in children with regressive autism spectrum disorders. Pediatrics, 104(3 Pt 1), 405-418.
24. Mouridsen, S. E., Rich, B., & Isager, T. (1999). Epilepsy in disintegrative psychosis and infantile autism: a long-term validation study. Developmental Medicine and Child Neurology, 41(2), 110-114.
25. Muhle, R., Trentacoste, S. V., & Rapin, I. (2004). The genetics of autism. Pediatrics, 113(5), e472-e486.
26. Nielsen, J., & Tsuboi, T. (1974). Electroencephalographic examination in the XYY syndrome and in Klinefelter's syndrome. British Journal of Psychiatry, 125(0), 236-237.
27. Olsson, I., Steffenburg, S., & Gillberg, C. (1988). Epilepsy in autism and autisticlike conditions. A population-based study. Arch Neurol, 45(6), 666-668.
28. Patwardhan, A. J., Eliez, S., Bender, B., Linden, M. G., & Reiss, A. L. (2000). Brain morphology in Klinefelter syndrome: Extra X chromosome and testosterone supplementation. Neurology, 54(12), 2218-2223.
29. Pavone, P., Incorpora, G., Fiumara, A., Parano, E., Trifiletti, R. R., & Ruggieri, M. (2004). Epilepsy is not a prominent feature of primary autism. Neuropediatrics, 35(4), 207-210.
30. Philippe, A., Martinez, M., Guilloud-Bataille, M., Gillberg, C., Rastam, M., Sponheim, E., Coleman, M., Zappella, M., Aschauer, H., Van Maldergem, L., Penet, C., Feingold, J., Brice, A., & Leboyer, M. (1999). Genome-wide scan for autism susceptibility genes. Human Molecular Genetics, 8(5), 805-812.
31. Ratcliffe, S. (1999). Long-term outcome in children of sex chromosome abnormalities. Archives of Disease in Childhood, 80(2), 192-195.
32. Robinson, A., Bender, B. G., Linden, M. G., & Salbenblatt, J. A. (1990). Sex chromosome aneuploidy: The Denver Prospective Study. Birth Defects Original Article Series, 26(4), 59-115.
33. Rossi, P. G., Posar, A., & Parmeggiani, A. (2000). Epilepsy in adolescents and young adults with autistic disorder. Brain & Development, 22, 102-106.
34. Samaco, R., Nagarajan, R., Braunschweig, D., & Lasalle, J. (2004). Multiple pathways regulate MeCP2 expression in normal brain development and exhibit defects in autism spectrum disorders. Human Molecular Genetics, 13(6), 629-639.
35. Samango-Sprouse, C. (2000, August 28, 2000). Developmental problems in infants and children. Paper presented at the NIH conference-Expanding the phenotype and identifying new research directions, Bethesda, Maryland.
36. Shinnar, S., Rapin, I., Arnold, S., Tuchman, R. F., Shulman, L., Ballaban-Gil, K., Maw, M., Deuel, R. K., & Volkmar, F. R. (2001). Language regression in childhood. Pediatric Neurology, 24(3), 183-189.
37. Simpson, J. L., de la Cruz, F., Swerdloff, R. S., Samango-Sprouse, C., Skakkebaek, N. E., Graham, J. M. Jr., Hassold, T., Aylstock, M., Meyer-Bahlburg, H. F., Willard, H. F., Hall, J. G., Salameh, W., Boone, K., Staessen, C., Geschwind, D., Giedd, J., Dobs, A. S., Rogol, A., Brinton, B., & Paulsen, C. A. (2003). Klinefelter syndrome: Expanding the phenotype and identifying new research directions. Genetics in Medicine, 5(6), 460-468.
38. Tatum, W. O. t., Passaro, E. A., Elia, M., Guerrini, R., Gieron, M., & Genton, P. (1998). Seizures in Klinefelter's syndrome. Pediatric Neurology, 19(4), 275-278.
39. Temple, C. M., & Sanfilippo, P. M. (2003). Executive skills in Klinefelter's syndrome. Neuropsychologia, 41(11), 1547-1559.
40. Tuchman, R. (2000). Treatment of seizure disorders and EEG abnormalities in children with autism spectrum disorders. Journal of Autism Developmental Disorders, 30(5), 485-489.
41. Tuchman, R., & Rapin, I. (2002). Epilepsy in autism. Lancet Neurology, 1(6), 352-358.
42. Tuchman, R. F., & Rapin, I. (1997). Regression in pervasive developmental disorders: seizures and epileptiform electroencephalogram correlates. Pediatrics, 99(4), 560-566.
43. Tuchman, R. F., Rapin, I., & Shinnar, S. (1991). Autistic and dysphasic children. II: Epilepsy. Pediatrics, 88(6), 1219-1225.
44. Vincent, J. B., Kolozsvari, D., Roberts, W. S., Bolton, P. F., Gurling, H. M. D., & Scherer, S. W. (2004). Mutation screening of X-chromosomal neuroligin genes: No mutations in 196 autism probands. American Journal of Human Genetics, 129B, 82-84.
45. Visootsak, J., Aylstock, M., & Graham, J. M. Jr. (2001). Klinefelter syndrome and its variants: An update and review for the primary pediatrician. Clinical Pediatrics (Phila), 40(12), 639-651.
46. Volkmar, F. R., & Nelson, D. S. (1990). Seizure disorders in autism. Journal of the American Academy of Child and Adolescent Psychiatry, 29(1), 127-129.
47. Warwick, M. M., Doody, G. A., Lawrie, S. M., Kestelman, J. N., Best, J. J., & Johnstone, E. C. (1999). Volumetric magnetic resonance imaging study of the brain in subjects with sex chromosome aneuploidies. Journal of Neurology Neurosurgery and Psychiatry, 66(5), 628-632.
48. Wong, V. (1993). Epilepsy in children with autistic spectrum disorder. Journal of Child Neurology, 8(4), 316-322.