Autism, language and communication in children with sex chromosome trisomies

Archives of Disease in Childhood

Volumn 96, Issue 10, 2011, Pages 954-959

  Bishop, Dorothy V M ^a   Jacobs, Patricia A ^b   Lachlan, Katherine ^b,c   Wellesley, Diana ^b,c   Barnicoat, Angela ^d   Boyd, Patricia A ^e   Fryer, Alan ^f   Middlemiss, Prisca ^g   Smithson, Sarah ^h   Metcalfe, Kay ⁱ   Shears, Deborah ^j   Leggett, Victoria ^a   Nation, Kate ^a   Scerif, Gaia ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b UNIVERSITY HOSPITAL SOUTHAMPTON NHS FOUNDATION TRUST   (United Kingdom)

^c UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^d GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^e UNIVERSITY OF OXFORD   (United Kingdom)

^f ALDER HEY CHILDREN S HOSPITAL   (United Kingdom)

^g Unique: Rare Chromosome Disorder Support Group   (United Kingdom)

^h UNIVERSITY HOSPITALS BRISTOL NHS FOUNDATION TRUST   (United Kingdom)

ⁱ ST MARY S HOSPITAL   (United Kingdom)

^j CHURCHILL HOSPITAL   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; AMNIOCENTESIS; ARTICLE; AUTISM; CHILD; CHILD BEHAVIOR; CHILD DEVELOPMENT; COMMUNICATION DISORDER; DISEASE SEVERITY; FEMALE; HUMAN; INTERPERSONAL COMMUNICATION; INTERVIEW; KARYOTYPE 47,XXX; KARYOTYPE 47,XXY; KARYOTYPE 47,XYY; KLINEFELTER SYNDROME; LANGUAGE; MAJOR CLINICAL STUDY; MALE; PARENT; PRENATAL SCREENING; PRIORITY JOURNAL; PROGNOSIS; QUESTIONNAIRE; RATING SCALE; SEX CHROMOSOME; SIBLING; SPECIAL EDUCATION; SPEECH THERAPY; TRISOMY; VINELAND ADAPTIVE BEHAVIOR SCALE;

CHILD; CHILD DEVELOPMENT DISORDERS, PERVASIVE; EDUCATION, SPECIAL; EDUCATIONAL STATUS; FEMALE; HUMANS; KARYOTYPING; LANGUAGE DEVELOPMENT DISORDERS; LANGUAGE THERAPY; MALE; PRENATAL DIAGNOSIS; PSYCHOMETRICS; SEX CHROMOSOME ABERRATIONS; SPEECH THERAPY; TRISOMY;

EID: 80052827372     PISSN: 00039888     EISSN: 14682044     Source Type: Journal    
DOI: 10.1136/adc.2009.179747     Document Type: Article

References (31)

1. Morris JK, Alberman E, Scott C, et al. Is the prevalence of Klinefelter syndrome increasing? Eur J Hum Genet 2008;16:163-70.
2. Willard HF. The sex chromosomes and X chromosome inactivation . In: Scriver C, Beaudet A, Sly W, Valle D, eds. The metabolic and molecular bases of inherited disease. 7th edn. New York, USA: McGraw Hill, 1995: 719-35.
3. Leggett V, Jacobs P, Nation K, et al Neurocognitive outcomes of individuals with a sex chromosome trisomy: XXX, XYY, or XXY: a systematic review. Dev Med Child Neurol 2010;52:119-29.
4. Bender BG, Berch DB. Overview: psychological phenotypes and sex chromosome abnormalities. In: Berch D, Bender B, eds. Sex Chromosome Abnormalities and Human Behavior. Boulder, Colorado, USA: Westview, 1990:1-19.
5. Bender BG, Harmon RJ, Linden MG, et al Psychosocial competence of unselected young adults with sex chromosome abnormalities. Am J Med Genet 1999;88:200-6. (Pubitemid 29156460)
6. Ratcliffe S. Long-term outcome in children of sex chromosome abnormalities. Arch Dis Child 1999;80:192-5. (Pubitemid 29119739)
7. van Rijn S, Swaab H, Aleman A, et al Social behavior and autism traits in a sex chromosomal disorder: Klinefelter (47XXY) syndrome. J Autism Dev Disord 2008;38:1634-41.
8. Bruining H, Swaab H, Kas M, et al Psychiatric characteristics in a self-selected sample of boys with Klinefelter syndrome. Pediatrics 2009;123:e865-70.
9. Jha P, Sheth D, Ghaziuddin M. Autism spectrum disorder and Klinefelter syndrome. Eur Child Adolesc Psychiatry 2007;16:305-8. (Pubitemid 47305455)
10. Merhar SL, Manning-Courtney P. Two boys with 47, XXY and autism. J Autism Dev Disord 2007;37:840-6. (Pubitemid 46790781)
11. Sparrow SS, Cicchetti DV, Balla DA. Vineland Adaptive Behavior Scales: second edition (Vineland II), Survey Interview Form/Caregiver Rating Form. Livonia, Michigan, USA: Pearson Assessments, 2005.
12. Bishop DVM. The Children's Communication Checklist, Version 2 (CCC-2). London: Pearson, 2003.
13. Lord C, Paul R. Language and communication in autism. In: Cohen DJ, Volkmar FR, eds. Handbook of Autism and Pervasive Developmental Disorders. 2nd edn. New York, USA: Wiley, 1997: 195-225.
14. Department for Children Schools and Families. DCSF: Special Educational Needs in England. 2008. http://www.dcsf.gov.uk/rsgateway/DB/SFR/s000794/index. shtml (accessed 12 October 2009).
15. Baird G, Simonoff E, Pickles A, et al Prevalence of disorders of the autism spectrum in a population cohort of children in South Thames: the Special Needs and Autism Project (SNAP). Lancet 2006;368:210-15. (Pubitemid 44037796)
16. Bishop DV, Whitehouse AJ, Watt HJ, et al Autism and diagnostic substitution: evidence from a study of adults with a history of developmental language disorder. Dev Med Child Neurol 2008;50:341-5. (Pubitemid 351560293)
17. A brahams B S, Geschwind DH. Advances in autism genetics: on the threshold of a new neurobiology. Nat Rev Genet 2008;9:341-55.
18. Konstantareas MM, Homatidis S. Chromosomal abnormalities in a series of children with autistic disorder. J Autism Dev Disord 1999;29:275-85. (Pubitemid 29400356)
19. Robinson RJ. Causes and associations of severe and persistent specific speech and language disorders in children. Dev Med Child Neurol 1991;33:943-62.
20. Thomas NS, Sharp AJ, Browne CE, et al Xp deletions associated with autism in three females. Hum Genet 1999;104:43-8. (Pubitemid 29134640)
21. Jamain S , Quach H, Betancur C, et al Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism. Nat Genet 2003;34:27-9. (Pubitemid 36548785)
22. Laumonnier F , Cuthbert PC, Grant SG. The role of neuronal complexes in human X-linked brain diseases. Am J Hum Genet 2007;80:205-20. (Pubitemid 46175670)
23. Marshall C R, Noor A, Vincent JB, et al Structural variation of chromosomes in autism spectrum disorder. Am J Hum Genet 2008;82:477-88.
24. Glessner JT, Wang K, Cai G, et al Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. Nature 2009;459:569-73.
25. Carrel L, Park C, Tyekucheva S, et al Genomic environment predicts expression patterns on the human inactive X chromosome. PLoS Genet 2006;2:e151.
26. Daoud H, Bonnet-Brilhault F, Védrine S, et al Autism and nonsyndromic mental retardation associated with a de novo mutation in the NLGN4X gene promoter causing an increased expression level. Biol Psychiatry 2009;66:906-10.
27. Pampanos A, Volaki K, Kanavakis E, et al A substitution involving the NLGN4 gene associated with autistic behavior in the Greek population. Genet Test Mol Biomarkers 2009;13:611-15.
28. Skaletsky H , Kuroda-Kawaguchi T, Minx PJ, et al The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. Nature 2003;423:825-37. (Pubitemid 36781267)
29. Creswell CS, Skuse DH. Autism in association with Turner syndrome: genetic implications for male vulnerability to pervasive developmental disorders. Neurocase 1999;5:511-18. (Pubitemid 30032390)
30. Weiss LA, Shen Y, Korn JM, et al Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med 2008;358:667-75. (Pubitemid 351240746)
31. Crespi B, Summers K, Dorus S. Genomic sister-disorders of neurodevelopment: an evolutionary approach. Evol Appl 2009;2:81-100.