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

来源：

JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS | 2014年 / 44卷 / 02期

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

页码：310 / 320

页数：11

共 50 条

[11] Extra X Chromosome in Mosaic Klinefelter Syndrome Is Associated with a Hematologic Malignancy
Jang, Mi-Ae
Jung, Chul Won
Kim, Sun-Hee
ANNALS OF LABORATORY MEDICINE, 2013, 33 (04) : 297 - 299
[12] Brain morphology in Klinefelter syndrome - Extra X chromosome and testosterone supplementation
Patwardhan, AJ
Eliez, S
Bender, B
Linden, MG
Reiss, AL
NEUROLOGY, 2000, 54 (12) : 2218 - 2223
[13] Perseveration in the Connected Speech of Boys with Fragile X Syndrome with and Without Autism Spectrum Disorder
Martin, Gary E.
Roberts, Joanne E.
Helm-Estabrooks, Nancy
Sideris, John
Vanderbilt, Jacqueline
Moskowitz, Lauren
AJIDD-AMERICAN JOURNAL ON INTELLECTUAL AND DEVELOPMENTAL DISABILITIES, 2012, 117 (05): : 384 - 399
[14] Autism spectrum disorder in boys with Fragile X: Serial evaluation
Cortell, R
Bukelis, I
Gray, RM
Cox, C
Tierney, E
Stanard, P
Kau, ASM
Kaufmann, WE
ANNALS OF NEUROLOGY, 2004, 56 : S104 - S104
[15] DDX3X SYNDROME: A WINDOW INTO STUDYING AUTISM SPECTRUM DISORDER IN GIRLS
Grice, Dorothy E.
JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY, 2021, 60 (10): : S287 - S287
[16] Comparison of Linguistic Error Production in Conversational Language Among Boys With Fragile X Syndrome plus Autism Spectrum Disorder and Autistic Boys
Maltman, Nell
Hilvert, Elizabeth
Friedman, Laura
Sterling, Audra
JOURNAL OF SPEECH LANGUAGE AND HEARING RESEARCH, 2023, 66 (01): : 296 - 313
[17] AN EXTRA X OR Y CHROMOSOME: CONTRASTING THE COGNITIVE AND MOTOR PHENOTYPES IN CHILDHOOD IN BOYS WITH 47,XYY SYNDROME OR 47,XXY KLINEFELTER SYNDROME
Ross, Judith L.
Zeger, Martha P. D.
Kushner, Harvey
Zinn, Andrew R.
Roeltgen, David P.
DEVELOPMENTAL DISABILITIES RESEARCH REVIEWS, 2009, 15 (04) : 309 - 317
[18] Prospective study of autism phenomenology and the behavioural phenotype of Phelan–McDermid syndrome: comparison to fragile X syndrome, Down syndrome and idiopathic autism spectrum disorder
Caroline Richards
Laurie Powis
Jo Moss
Christopher Stinton
Lisa Nelson
Christopher Oliver
Journal of Neurodevelopmental Disorders, 2017, 9
[19] Rates and predictors of co-occurring autism spectrum disorder in boys with fragile X syndrome
Haebig, Eileen
Sterling, Audra
Barton-Hulsey, Andrea
Friedman, Laura
AUTISM & DEVELOPMENTAL LANGUAGE IMPAIRMENTS, 2020, 5
[20] Higher frequencies of X-Y aneuploid sperm in fathers of boys with Klinefelter syndrome when the extra X-chromosome was of paternal origin.
Eskenazi, B
Lowe, X
Kidd, S
Weisiger, K
Moore, D
Chuu, YJ
Aylstock, M
Wyrobek, A
AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (04) : A72 - A72

← 1 2 3 4 5 →