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Journal of Autism and Developmental Disorders

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01-02-2014 | Original Paper

The Social Behavioral Phenotype in Boys and Girls with an Extra X Chromosome (Klinefelter Syndrome and Trisomy X): A Comparison with Autism Spectrum Disorder

Auteurs: Sophie van Rijn, Lex Stockmann, Martine Borghgraef, Hilgo Bruining, Conny van Ravenswaaij-Arts, Lutgarde Govaerts, Kerstin Hansson, Hanna Swaab

Gepubliceerd in: Journal of Autism and Developmental Disorders | Uitgave 2/2014

Abstract

The present study aimed to gain more insight in the social behavioral phenotype, and related autistic symptomatology, of children with an extra X chromosome in comparison to children with ASD. Participants included 60 children with an extra X chromosome (34 boys with Klinefelter syndrome and 26 girls with Trisomy X), 58 children with ASD and 106 controls, aged 9 to 18 years. We used the Autism Diagnostic Interview, Social Responsiveness Scale, Social Anxiety Scale and Social Skills Rating System. In the extra X group, levels of social dysfunction and autism symptoms were increased, being in between controls and ASD. In contrast to the ASD group, the extra X group showed increased social anxiety. The effects were similar for boys and girls with an extra X chromosome.

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Achenbach, T. M. (1991). Manual for the Child Behaviour Checklist/4–18 and 1991 profile. Burlington, VT: University of Vermont Department of Psychiatry.

A.P.A. (1994). Diagnostic and statistical manual of mental disorders IV (4th ed.). Washington, DC: American Psychiatric Association Press.

Bearden, C. E., Reus, V. I., & Freimer, N. B. (2004). Why genetic investigation of psychiatric disorders is so difficult. Current Opinion in Genetics & Development, 14, 280.CrossRef

Bender, B. G., Harmon, R. J., Linden, M. G., Bucher-Bartelson, B., & Robinson, A. (1999). Psychosocial competence of unselected young adults with sex chromosome abnormalities. American Journal of Medical Genetics-Neuropsychiatric Genetics, 88, 200–206.PubMedCrossRef

Bishop, D. V., et al. (2011). Autism, language and communication in children with sex chromosome trisomies. Archives of Disease in Childhood, 10, 954–959. doi:10.1136/adc.2009.179747.CrossRef

Boada, R., Janusz, J., Hutaff-Lee, C., & Tartaglia, N. (2009). The cognitive phenotype in Klinefelter syndrome: A review of the literature including genetic and hormonal factors. Developmental Disabilities Research Reviews, 15, 284–294.PubMedCentralPubMedCrossRef

Boone, K. B., et al. (2001). Neuropsychological profiles of adults with Klinefelter syndrome. Journal of International Neuropsychological Society, 7, 446–456.CrossRef

Bruining, H., Swaab, H., Kas, M., & Van Engeland, H. (2009). Psychiatric characteristics in a self-selected sample of boys with klinefelter syndrome. Pediatrics, 123, e865–e870.PubMedCrossRef

Bruining, H., et al. (2010). Dissecting the clinical heterogeneity of autism spectrum disorders through defined genotypes. PLoS One, 5, 7. doi:10.1371/journal.pone.0010887.CrossRef

Constantino, J. N., & Gruber, C. P. (2005). The social responsiveness scale. Los Angeles: Western Psychological Services.

Constantino, J. N., et al. (2003). Validation of a brief quantitative measure of autistic traits: Comparison of the social responsiveness scale with the autism diagnostic interview-revised. Journal of Autism and Developmental Disorders, 33, 427.PubMedCrossRef

Cox, A., et al. (1999). Autism spectrum disorders at 20 and 42 months of age: Stability of clinical and ADI-R diagnosis. Journal of Child Psychology and Psychiatry, 40, 719–732. doi:10.1017/s002196309900400x.PubMedCrossRef

Dekking, Y. M. (1983). [Handleiding sociale angst schaal voor kinderen] Manual social anxiety scale for children. Lisse, The Netherlands: Swets & Zeitlinger.

Evers, A., Van Vliet-Mulder, J. C., & Ter Laak, J. (1992). Amsterdam. The Netherlands: Van Gorcum.

Geschwind, D. H., & Dykens, E. (2004). Neurobehavioral and psychosocial issues in Klinefelter syndrome. Learning Disabilities Research & Practice, 19, 166–173. doi:10.1111/j.1540-5826.2004.00100.x.CrossRef

Gottesman, I. I., & Gould, T. D. (2003). The endophenotype concept in psychiatry: etymology and strategic intentions. American Journal of Psychiatry, 160, 636–645.PubMedCrossRef

Gresham, F. M., & Elliott, S. N. (1990). Social skills rating system manual. Circle Pines, MN: American Guidance Service.

Harmon, R. J., Bender, B. G., Linden, M. G., & Robinson, A. (1998). Transition from adolescence to early adulthood: Adaptation and psychiatric status of women with 47, XXX. Journal of the American Academy of Child and Adolescent Psychiatry, 37, 286–291.PubMedCrossRef

Hofmann, S. G. (2005). Perception of control over anxiety mediates the relation between catastrophic thinking and social anxiety in social phobia. Behaviour Research and Therapy, 43, 885–895. doi:10.1016/j.brat.2004.07.002.PubMedCrossRef

Konstantareas, M. M., & Homatidis, S. (1999). Chromosomal abnormalities in a series of children with autistic disorder. Journal of Autism and Developmental Disorders, 29, 275–285.PubMedCrossRef

Leggett, V., Jacobs, P., Nation, K., Scerif, G., & Bishop, D. V. M. (2010). Neurocognitive outcomes of individuals with a sex chromosome trisomy: XXX, XYY, or XXY: a systematic review. Developmental Medicine and Child Neurology, 52, 119–129. doi:10.1111/j.1469-8749.2009.03545.x.PubMedCentralPubMedCrossRef

Maner, J. K., & Kenrick, D. T. (2010). When adaptations go awry: Functional and dysfunctional aspects of social anxiety. Social Issues and Policy Review, 4, 111–142.PubMedCentralPubMedCrossRef

Otter, M., Schrander-Stumpel, C., & Curfs, L. M. G. (2010). Triple X syndrome: A review of the literature. European Journal of Human Genetics, 18, 265–271. doi:10.1038/ejhg.2009.109.PubMedCrossRef

Palmen, S., et al. (2005). Increased gray-matter volume in medication-naive high-functioning children with autism spectrum disorder. Psychological Medicine, 35, 561–570. doi:10.1017/s0033291704003496.PubMedCrossRef

Ratcliffe, S. (1999). Long-term outcome in children of sex chromosome abnormalities. Archives of Disease in Childhood, 80, 192–195.PubMedCrossRef

Ratcliffe, S., Butler, G. E., & Jones, M. (1991). Edinburgh study of growth and development of children with sex chromosome abnormalities. IV. Birth Defects: Original Articles Series, 26, 1–44.

Robinson, A., Bender, B., Linden, M., & Salbenblatt, J. (1991). Sex chromosome aneuploidy: The Denver prospective study. Birth Defects: Original Articles Series, 26, 59–115.

Scourfield, J., Martin, N., Lewis, G., & McGuffin, P. (1999). Heritability of social cognitive skills in children and adolescents. British Journal of Psychiatry, 175, 559–564.PubMedCrossRef

Sparks, B. F., et al. (2002). Brain structural abnormalities in young children with autism spectrum disorder. Neurology, 59, 184–192.PubMedCrossRef

Stewart, D., Bailey, J., Netley, C., & Park, E. (1991). Growth, development and behavioral outcome from mid-adolescence to adulthood in subjects with chromosome aneuploidy: the Toronto study. Birth Defects: Original Articles Series, 26, 131–188.

Tartaglia, N., Cordeiro, L., Howell, S., Wilson, R., & Janusz, J. (2010a). The spectrum of the behavioral phenotype in boys and adolescents 47, XXY (Klinefelter syndrome). Pediatric Endocrinology Reviews: PER, 8(Suppl 1), 151–159.PubMedCentralPubMed

Tartaglia, N. R., Howell, S., Sutherland, A., Wilson, R., & Wilson, L. (2010b). A review of trisomy X (47, XXX). Orphanet Journal of Rare Diseases, 5, 9. doi:10.1186/1750-1172-5-8.CrossRef

van Rijn, S., Aleman, A., Swaab, H., Krijn, T., Vingerhoets, G., & Kahn, R. (2007). What it is said versus how it is said: comprehension of affective prosody in men with Klinefelter (47, XXY) syndrome. Journal of International Neuropsychological Society, 13, 1065–1070. doi:10.1017/S1355617707071044.

van Rijn, S., Swaab, H., Aleman, A., & Kahn, R. S. (2006). X Chromosomal effects on social cognitive processing and emotion regulation: A study with Klinefelter men (47, XXY). Schizophrenia Research, 84, 194–203. doi:10.1016/j.schres.2006.02.020.PubMedCrossRef

van Rijn, S., Swaab, H., Aleman, A., & Kahn, R. S. (2008). Social behavior and autism traits in a sex chromosomal disorder: Klinefelter (47XXY) syndrome. Journal of Autism and Developmental Disorders, 38, 1634–1641. doi:10.1007/s10803-008-0542-1.PubMedCrossRef

van’t Wout, M., van Rijn, S., Jellema, T., Kahn, R. S., & Aleman, A. (2009). Deficits in implicit attention to social signals in schizophrenia and high risk groups: Behavioural evidence from a new illusion. PloS one, 4, e5581. doi:10.1371/journal.pone.0005581.CrossRef

Visootsak, J., & Graham, J. M. (2009). Social function in multiple X and Y chromosome disorders: XXY, XYY, XXYY, XXXY. Developmental Disabilities Research Reviews, 15, 328–332.PubMedCrossRef

Zechner, U., Wilda, M., Kehrer-Sawatzki, H., Vogel, W., Fundele, R., & Hameister, H. (2001). A high density of X-linked genes for general cognitive ability: A run-away process shaping human evolution? Trends in Genetics, 17, 697–701. doi:10.1016/S0168-9525(01)02446-5.

Titel: The Social Behavioral Phenotype in Boys and Girls with an Extra X Chromosome (Klinefelter Syndrome and Trisomy X): A Comparison with Autism Spectrum Disorder
Auteurs: Sophie van Rijn
Lex Stockmann
Martine Borghgraef
Hilgo Bruining
Conny van Ravenswaaij-Arts
Lutgarde Govaerts
Kerstin Hansson
Hanna Swaab
Publicatiedatum: 01-02-2014
Uitgeverij: Springer US
Gepubliceerd in: Journal of Autism and Developmental Disorders / Uitgave 2/2014
Print ISSN: 0162-3257
Elektronisch ISSN: 1573-3432
DOI: https://doi.org/10.1007/s10803-013-1860-5

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