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

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

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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.
Literatuur
go back to reference Achenbach, T. M. (1991). Manual for the Child Behaviour Checklist/4–18 and 1991 profile. Burlington, VT: University of Vermont Department of Psychiatry. Achenbach, T. M. (1991). Manual for the Child Behaviour Checklist/4–18 and 1991 profile. Burlington, VT: University of Vermont Department of Psychiatry.
go back to reference A.P.A. (1994). Diagnostic and statistical manual of mental disorders IV (4th ed.). Washington, DC: American Psychiatric Association Press. A.P.A. (1994). Diagnostic and statistical manual of mental disorders IV (4th ed.). Washington, DC: American Psychiatric Association Press.
go back to reference 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 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
go back to reference 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 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
go back to reference 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 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
go back to reference Boone, K. B., et al. (2001). Neuropsychological profiles of adults with Klinefelter syndrome. Journal of International Neuropsychological Society, 7, 446–456. CrossRef Boone, K. B., et al. (2001). Neuropsychological profiles of adults with Klinefelter syndrome. Journal of International Neuropsychological Society, 7, 446–456. CrossRef
go back to reference 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., 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
go back to reference Constantino, J. N., & Gruber, C. P. (2005). The social responsiveness scale. Los Angeles: Western Psychological Services. Constantino, J. N., & Gruber, C. P. (2005). The social responsiveness scale. Los Angeles: Western Psychological Services.
go back to reference 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 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
go back to reference Dekking, Y. M. (1983). [Handleiding sociale angst schaal voor kinderen] Manual social anxiety scale for children. Lisse, The Netherlands: Swets & Zeitlinger. Dekking, Y. M. (1983). [Handleiding sociale angst schaal voor kinderen] Manual social anxiety scale for children. Lisse, The Netherlands: Swets & Zeitlinger.
go back to reference Evers, A., Van Vliet-Mulder, J. C., & Ter Laak, J. (1992). Amsterdam. The Netherlands: Van Gorcum. Evers, A., Van Vliet-Mulder, J. C., & Ter Laak, J. (1992). Amsterdam. The Netherlands: Van Gorcum.
go back to reference Gottesman, I. I., & Gould, T. D. (2003). The endophenotype concept in psychiatry: etymology and strategic intentions. American Journal of Psychiatry, 160, 636–645. PubMedCrossRef Gottesman, I. I., & Gould, T. D. (2003). The endophenotype concept in psychiatry: etymology and strategic intentions. American Journal of Psychiatry, 160, 636–645. PubMedCrossRef
go back to reference Gresham, F. M., & Elliott, S. N. (1990). Social skills rating system manual. Circle Pines, MN: American Guidance Service. Gresham, F. M., & Elliott, S. N. (1990). Social skills rating system manual. Circle Pines, MN: American Guidance Service.
go back to reference 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 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
go back to reference 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 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
go back to reference 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 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
go back to reference Ratcliffe, S. (1999). Long-term outcome in children of sex chromosome abnormalities. Archives of Disease in Childhood, 80, 192–195. PubMedCrossRef Ratcliffe, S. (1999). Long-term outcome in children of sex chromosome abnormalities. Archives of Disease in Childhood, 80, 192–195. PubMedCrossRef
go back to reference 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. 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.
go back to reference Robinson, A., Bender, B., Linden, M., & Salbenblatt, J. (1991). Sex chromosome aneuploidy: The Denver prospective study. Birth Defects: Original Articles Series, 26, 59–115. Robinson, A., Bender, B., Linden, M., & Salbenblatt, J. (1991). Sex chromosome aneuploidy: The Denver prospective study. Birth Defects: Original Articles Series, 26, 59–115.
go back to reference 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 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
go back to reference Sparks, B. F., et al. (2002). Brain structural abnormalities in young children with autism spectrum disorder. Neurology, 59, 184–192. PubMedCrossRef Sparks, B. F., et al. (2002). Brain structural abnormalities in young children with autism spectrum disorder. Neurology, 59, 184–192. PubMedCrossRef
go back to reference 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. 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.
go back to reference 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., 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
go back to reference 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/​S135561770707104​4. 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/​S135561770707104​4.
go back to reference 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 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
go back to reference 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 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
go back to reference 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 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
go back to reference 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. 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.
Metagegevens
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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