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

被引:55
|
作者
van Rijn, Sophie [1 ,2 ]
Stockmann, Lex [1 ,3 ]
Borghgraef, Martine [4 ]
Bruining, Hilgo [5 ]
van Ravenswaaij-Arts, Conny [6 ]
Govaerts, Lutgarde [7 ]
Hansson, Kerstin [8 ]
Swaab, Hanna [1 ,2 ]
机构
[1] Leiden Univ, NL-2333 AK Leiden, Netherlands
[2] Leiden Inst Brain & Cognit, NL-2300 RC Leiden, Netherlands
[3] Autism Ctr Rivierduinen, NL-2333 ZZ Leiden, Netherlands
[4] Univ Hosp Leuven, Ctr Human Genet, B-3000 Louvain, Belgium
[5] Univ Utrecht, Univ Med Ctr Utrecht, Dept Psychiat, NL-3584 CX Utrecht, Netherlands
[6] Univ Groningen, Univ Med Ctr Groningen, Dept Genet, NL-9700 RB Groningen, Netherlands
[7] Erasmus MC, Dept Clin Genet, NL-3015 GE Rotterdam, Netherlands
[8] Leiden Univ, Med Ctr, Dept Clin Genet, LDGA, NL-2300 RC Leiden, Netherlands
关键词
Klinefelter; Trisomy X; Autism; Social functioning; X chromosome; Sex chromosomal aneuploidies; CHILDREN; ABNORMALITIES; TRAITS; ADULTS; XYY; MEN; XXY;
D O I
10.1007/s10803-013-1860-5
中图分类号
B844 [发展心理学(人类心理学)];
学科分类号
040202 ;
摘要
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.
引用
收藏
页码:310 / 320
页数:11
相关论文
共 50 条
  • [41] Expressive language abilities of boys with idiopathic autism spectrum disorder and boys with fragile X syndromethornautism spectrum disorder: Cross-context comparisons
    Hilvert, Elizabeth
    Sterling, Audra
    Haebig, Eileen
    Friedman, Laura
    AUTISM & DEVELOPMENTAL LANGUAGE IMPAIRMENTS, 2020, 5
  • [42] Consistency between research and clinical diagnoses of autism among boys and girls with fragile X syndrome
    Klusek, J.
    Martin, G. E.
    Losh, M.
    JOURNAL OF INTELLECTUAL DISABILITY RESEARCH, 2014, 58 (10) : 940 - 952
  • [43] Cytogenetic abnormalities and fragile-X syndrome in autism spectrum disorder
    Reddy, KS
    BMC MEDICAL GENETICS, 2005, 6
  • [44] Early social communication in infants with fragile X syndrome and infant siblings of children with autism spectrum disorder
    Hahn, Laura J.
    Brady, Nancy C.
    McCary, Lindsay
    Rague, Lisa
    Roberts, Jane B.
    RESEARCH IN DEVELOPMENTAL DISABILITIES, 2017, 71 : 169 - 180
  • [45] Effect of Speaker Gaze on Word Learning in Fragile X Syndrome: A Comparison With Nonsyndromic Autism Spectrum Disorder
    Benjamin, David P.
    McDuffie, Andrea S.
    Thurman, Angela J.
    Kover, Sara T.
    Mastergeorge, Ann M.
    Hagerman, Randi J.
    Abbeduto, Leonard
    JOURNAL OF SPEECH LANGUAGE AND HEARING RESEARCH, 2015, 58 (02): : 383 - 395
  • [46] Autism spectrum disorders and attention-deficit/hyperactivity disorder in boys with the fragile X premutation
    Farzin, Faraz
    Perry, Hazel
    Hessl, David
    Loesch, Danuta
    Cohen, Jonathan
    Bacalman, Susan
    Gane, Louise
    Tassone, Flora
    Hagerman, Paul
    Hagerman, Randi
    JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS, 2006, 27 (02): : S137 - S144
  • [47] Vulnerability for autism traits in boys and men with an extra X chromosome (47,XXY): The mediating role of cognitive flexibility
    van Rijn, Sophie
    Bierman, Marit
    Bruining, Hilgo
    Swaab, Hanna
    JOURNAL OF PSYCHIATRIC RESEARCH, 2012, 46 (10) : 1300 - 1306
  • [48] Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia
    A Piton
    J Gauthier
    F F Hamdan
    R G Lafrenière
    Y Yang
    E Henrion
    S Laurent
    A Noreau
    P Thibodeau
    L Karemera
    D Spiegelman
    F Kuku
    J Duguay
    L Destroismaisons
    P Jolivet
    M Côté
    K Lachapelle
    O Diallo
    A Raymond
    C Marineau
    N Champagne
    L Xiong
    C Gaspar
    J-B Rivière
    J Tarabeux
    P Cossette
    M-O Krebs
    J L Rapoport
    A Addington
    L E DeLisi
    L Mottron
    R Joober
    E Fombonne
    P Drapeau
    G A Rouleau
    Molecular Psychiatry, 2011, 16 : 867 - 880
  • [49] Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia
    Piton, A.
    Gauthier, J.
    Hamdan, F. F.
    Lafreniere, R. G.
    Yang, Y.
    Henrion, E.
    Laurent, S.
    Noreau, A.
    Thibodeau, P.
    Karemera, L.
    Spiegelman, D.
    Kuku, F.
    Duguay, J.
    Destroismaisons, L.
    Jolivet, P.
    Cote, M.
    Lachapelle, K.
    Diallo, O.
    Raymond, A.
    Marineau, C.
    Champagne, N.
    Xiong, L.
    Gaspar, C.
    Riviere, J-B
    Tarabeux, J.
    Cossette, P.
    Krebs, M-O
    Rapoport, J. L.
    Addington, A.
    DeLisi, L. E.
    Mottron, L.
    Joober, R.
    Fombonne, E.
    Drapeau, P.
    Rouleau, G. A.
    MOLECULAR PSYCHIATRY, 2011, 16 (08) : 867 - 880
  • [50] Chromosome X-wide common variant association study in autism spectrum disorder
    Mendes, Marla
    Chen, Desmond Zeya
    Engchuan, Worrawat
    Leal, Thiago Peixoto
    Thiruvahindrapuram, Bhooma
    Trost, Brett
    Howe, Jennifer L.
    Pellecchia, Giovanna
    Nalpathamkalam, Thomas
    Alexandrova, Roumiana
    Salazar, Nelson Bautista
    Mckee, Ethan A.
    Rivera-Alfaro, Natalia
    Lai, Meng-Chuan
    Bandres-Ciga, Sara
    Roshandel, Delnaz
    Bradley, Clarrisa A.
    Anagnostou, Evdokia
    Sun, Lei
    Scherer, Stephen W.
    AMERICAN JOURNAL OF HUMAN GENETICS, 2025, 112 (01)