Autism spectrum disorders in XYY syndrome: Two new cases and systematic review of the literature

European Journal of Pediatrics

Volumn 173, Issue 3, 2014, Pages 277-283

  Margari, Lucia ^a   Lamanna, Anna Linda ^a   Craig, Francesco ^a   Simone, Marta ^a   Gentile, Mattia ^b,c  

^a UNIVERSITY OF BARI   (Italy)

^b National Institute of Gastroenterology Saverio de Bellis Castellana Grotte   (Italy)

^c DI VENERE HOSPITAL   (Italy)

Author keywords

ASD; Autism Spectrum Disorders; XYY syndrome; Y chromosome

Indexed keywords

AMNIOCENTESIS; AUTISM; BASIC NEEDS; BRAIN SIZE; CASE REPORT; CESAREAN SECTION; CHILD; DISEASE ASSOCIATION; DOWN SYNDROME; DUCHENNE MUSCULAR DYSTROPHY; ELECTROENCEPHALOGRAM; FAMILY HISTORY; FOLLOW UP; GENE DOSAGE; HUMAN; INTERPERSONAL COMMUNICATION; INTRAUTERINE GROWTH RETARDATION; KARYOTYPE 47,XYY; KARYOTYPING; LANGUAGE; LANGUAGE DEVELOPMENT; MALE; MEDICAL HISTORY; MOOD DISORDER; NAMED INVENTORIES, QUESTIONNAIRES AND RATING SCALES; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; PRIORITY JOURNAL; REVIEW; SATISFACTION; SEX CHROMOSOME ABERRATION; SOCIAL INTERACTION; SOCIALIZATION; STEREOTYPY; SYSTEMATIC REVIEW; VINELAND ADAPTIVE BEHAVIOR SCALE; VOCALIZATION; WHITE MATTER; Y CHROMOSOME; CHROMOSOME DISORDER; GENETICS;

CHILD DEVELOPMENT DISORDERS, PERVASIVE; CHILD, PRESCHOOL; HUMANS; MALE; SEX CHROMOSOME ABERRATIONS; SEX CHROMOSOME DISORDERS; XYY KARYOTYPE;

EID: 84896731572     PISSN: 03406199     EISSN: 14321076     Source Type: Journal    
DOI: 10.1007/s00431-014-2267-9     Document Type: Review

References (29)

1. Artigas-Pallarés J, Gabau-Vila E, Guitart-Feliubadalò M (2005) Syndromic autism: II. Genetic syndromes associated with autism. Rev Neurol 40:151-162
2. Bishop DV, Scerif G (2011) Klinefelter syndrome as a window on the aetiology of language and communication impairments in children: the neuroligin-neurexin hypothesis. Acta Paediatr 100:903-907
3. Bishop DV, Jacobs PA, Lachlan K, Wellesley D, Barnicoat A, Boyd PA, Fryer A, Middlemiss P, Smithson S, Metcalfe K, Shears D, Leggett V, Nation K, Scerif G (2011) Autism, language and communication in children with sex chromosome trisomies. Arch Dis Child 96:954-959
4. Bishop DV (2012) Commentary: unravelling the effects of additional sex chromosomes on cognition and communication - reflections on Lee et al. Journal of Child Psychology and Psychiatry 53(10):1082-1083
5. Bryant DM, Hoeft F, Lai S, Lackey J, Roeltgen D, Ross J, Reiss AL (2012) Sex chromosomes and the brain: a study of neuroanatomy in XYY syndrome. Dev Med Child Neurol 54:1149-1156
6. Cashion L, Van Roden A (2011) Asperger's disorder in an adolescent with 47, XYY chromosomal syndrome. Clin Pediatr 50:562-566
7. Cordeiro L, Tartaglia N, Roeltgen D, Ross J (2012) Social deficits in male children and adolescents with sex chromosome aneuploidy: a comparison of XXY, XYY, and XXYY syndromes. Res Dev Disabil 33:1254-1263
8. Durand CM, Kappeler C, Betancur C, Delorme R, Quach H, Goubran-Botros H, Melke J, Nygren G, Chabane N, Bellivier F, Szoke A, Schurhoff F, Rastam M, Anckarsäter H, Gillberg C, Leboyer M, Bourgeron T (2006) Expression and genetic variability of PCDH11Y, a gene specific to Homo sapiens and candidate for susceptibility to psychiatric disorders. Am J Med Genet Part B: Neuropsychiatric Genetics 141B:67-70
9. Geerts M, Steyaert J, Fryns JP (2003) The XYY syndrome: a follow-up study on 38 boys. Genet Couns 14:267-279
10. Gillberg C, Winnergård I, Wahlström J (1984) The sex chromosomes - one key to autism? An XYY case of infantile autism. Appl Res Ment Retard 5:353-360
11. Jamain S, Quach H, Quintana-Murci L, Betancur C, Philippe A, Gillberg C, Sponheim E, Skjeldal OH, Fellous M, Leboyer M, Bourgeron T (2002) Y chromosome haplogroups in autistic subjects. Mol Psychiatry 7(2):217-219
12. Kuczynski E, Bertola DR, Castro CI, Koiffmann CP, Kim CA (2009) Infantile autism and 47, XYY karyotype. Arq Neuropsiquiatr 67:717-718
13. Lalatta F, Folliero E, Cavallari U, Di Segni M, Gentilin B, Fogliani R, Quagliarini D, Vizziello P, Monti F, Gargantini L (2012) Early manifestations in a cohort of children prenatally diagnosed with 47, XYY. Role of multidisciplinary counseling for parental guidance and prevention of aggressive behavior. Ital J Pediatr 3:38-52
14. Lee NR, Wallace GL, Adeyemi EI, Lopez KC, Blumenthal JD, Clasen LS, Giedd JN (2012) Dosage effects of X and Y chromosomes on language and social functioning in children with supernumerary sex chromosome aneuploidies: implications for idiopathic language impairment and autism spectrum disorders. Journal of Child Psychology and Psychiatry 53:1072-1081
15. Leggett V, Jacobs P, Nation K, Scerif G, Bishop DV (2012) Neurocognitive outcomes of individuals with a sex chromosome trisomy: XXX, XYY, or XXY: a systematic review. Dev Med Child Neurol 52:119-129
16. Marshall CR, Scherer SW (2012) Detection and characterization of copy number variation in autism spectrum disorder. Methods Mol Biol 838:115-135
17. Nicolson R, Bhalerao S, Sloman L (1998) 47, XYY karyotypes and pervasive developmental disorders. Can J Psychiatry 43:619-622
18. Ross JL, Roeltgen DP, Kushner H, Zinn AR, Reiss A, Bardsley MZ, McCauley E, Tartaglia N (2012) Behavioral and social phenotypes in boys with 47, XYY syndrome or 47, XXY Klinefelter syndrome. Pediatrics 129:769-778
19. Ross JL, Zeger MP, Kushner H, Zinn AR, Roeltgen DP (2009) 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. Dev Disabil Res Rev 15:309-317
20. Serajee FJ, Mahbubul Huq AH (2009) Association of Y chromosome haplotypes with autism. J Child Neurol 24(10):1258-1261
21. Stochholm K, Juul S, Gravholt CH (2010) Diagnosis and mortality in 47, XYY persons: a registry study. Orphanet J Rare Dis 5:15
22. Stochholm K, Juul S, Gravholt CH (2012) Socio-economic factors affect mortality in 47, XYY syndrome-A comparison with the background population and Klinefelter syndrome. Am J Med Genet A 158:2421-2429
23. Stochholm K, Bojesen A, Jensen AS, Juul S, Gravholt CH (2012) Criminality in men with Klinefelter's syndrome and XYY syndrome: a cohort study. BMJ Open 22:e000650
24. Talebizadeh Z, Lam DY, Theodoro MF, Bittel DC, Lushington GH, Butler MG (2006) Novel splice isoforms for NLGN3 and NLGN4 with possible implications in autism. J Med Gen 43:e21
25. Turner G, Partington M, Kerr B, Mangelsdorf M, Gecz J (2002) Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation. Am J Genet 112:405-411
26. Visootsak J, Graham JM (2009) Social function in multiple X and Y chromosome disorders: XXY, XYY, XXYY, XXXY. Dev Disabil Res Rev 15:328-332
27. Weidmer-Mikhail E, Sheldon S, Ghaziuddin M (1998) Chromosomes in autism and related pervasive developmental disorders: a cytogenetic study. J Intellect Disabil Res 42:8-12
28. Yan J, Feng J, Schroer R, Li W, Skinner C, Schwartz CE, Cook EH Jr, Sommer SS (2008) Analysis of the neuroligin 4Y gene in patients with autism. Psychiatr Genet 18:204-207
29. Zafeiriou DI, Ververi A, Vargiami E (2007) Childhood autism and associated comorbidities. Brain Dev 29:257-272