Genetic testing in children with autism spectrum disorders

Amaç: Bu çalışmanın amacı Amerikan Pediatri Akademisinin yayınladığı klinik rapora göre, kliniğe başvuran ve otizm spektrum bozukluğu (OSB) olan çocuklarda karyotip anormalllikleri, MECP2 mutasyonları ve Frajil X araştırılması amaçlanmıştır. Yöntem: OSB olan 96 çocukta genetik testler ve ilişkili etkenlere bakılmıştır. Sonuçlar: OSBlilerin %9.7sinde karyotip anormallikleri, %1.4ünde Frajil X sendromu saptanmıştır. Karyotip anormallikleri inv(9) (p12q13), inv(9)(p11q13), inv(Y)(p11q11); Robertsonian translokasyonu (13;14)(8q10q10) ve (13,14)(q10q10); 9qh+; Yqh+; 15ps+; 13(p11.2) delesyonudur. Tartışma: OSB olan çocukları olan ailelerin tümüne, bir kısmı bunu uygulamayacak olsa bile genetik inceleme önerilmelidir. Karyotip ve FRAXA incelemesi yaklaşık %10 pozitif sonuç verse bile ayrıntılı bir öykü ve fizik muayene OSB olan çocuklarda etiyolojik araştırmanın halen en önemli bileşenidir. Ayrıca genetik inceleme sonucu elde edilen bilginin yorumlanmasında genetik uzmanlarından yardım almak önemlidir

Otizm spektrum bozukluğu olan çocuklarda genetik inceleme

Objective: The aim of this study was to investigate karyotype abnormalities, MECP2 mutations, and Fragile X in a clinical population of children with Autism Spectrum Disorders (ASD) using The Clinical Report published by the American Academy of Pediatrics. Methods: Ninety-six children with ASD were evaluated for genetic testing and factors associated with this testing. Results: Abnormalities were found on karyotype in 9.7% and in DNA for fragile X in 1.4%. Karyotype abnormalities include inv(9)(p12q13); inv(9)(p11q13); inv(Y)(p11q11); Robertsonian translocation (13;14)(8q10q10) and (13,14)(q10q10); 9qh+; Yqh+; 15ps+; deletion 13(p11.2). Conclusion: Genetic testing should be offered to all families of a child with an ASD, even not all of them would follow this recommendation. Although karyotype and FRAXA assessment will yield almost 10% positive results, a detailed history and physical examination are still the most important aspect of the etiological evaluation for children with ASD. Also, it is important to have geneticists to help in interpreting the information obtained from genetic testing. (Anatolian Journal of Psychiatry 2015; 16(6):426-432)

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  • 1. American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders, 4th ed., text revision, Washington, DC: American Psychiatric Association, 2000.
  • 2. Fombonne E. Epidemiology of pervasive developmental disorders. Pediatr Res 2009; 65:591-598.
  • 3. Caglayan AO. Genetic causes of syndromic and non-syndromic autism. Dev Med Child Neurol 2010; 52(2):130-138.
  • 4. Johnson CP, Myers SM. Identification and evaluation of children with autism spectrum disorders. Pediatrics 2007; 120:1183-1215.
  • 5. Chakrabarti S, Fombonne E. Pervasive developmental disorders in preschool children. JAMA 2001; 285:3093-3099.
  • 6. Icasiano F, Hewson P, Machet P, Cooper C, Marshall A. Childhood autism spectrum disorder in the Barwon region: a community based study. J Paediatr Child Health 2004; 40:696-701.
  • 7. Lauritsen MB, Pedersen CB, Mortensen PB. Effects of familial risk factors and place of birth on the risk of autism: a nationwide register-based study. J Child Psychol Psychiatry 2005; 46:963-
  • 8. Simonoff E. Genetic counseling in autism and pervasive developmental disorders. J Autism Dev Disord 1998; 28:447-456.
  • 9. Schaefer GB, Mendelsohn NJ. Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. Genet Med 2013; 15:399-407.
  • 10. Bailey A, Bolton P, Butler L, LeCouteur A, Murphy M, Scott S, et al. Prevalence of the fragile X anomaly amongst autistic twins and singletons. J Child Psychol Psychiatry 1993; 34:673-688.
  • 11. Wassinka TH, Pivenb J, Patil SR. Chromosomal abnormalities in a clinic sample of individuals with autistic disorder. Psychiatr Genet 2001; 11:57-63.
  • 12. Reddy KS. Cytogenetic abnormalities and fragileX syndrome in autism spectrum disorder. BMC Med Genet 2005; 6 doi:10.1186/1471-2350-6-3.
  • 13. Shen Y, Dies KA, Holm IA. Clinical genetic testing for patients with autism spectrum disorders. Pediatrics 2010; 125:e727-e735.
  • 14. Roesser J. Diagnostic yield of genetic testing in children diagnosed with autism spectrum disorders at a regional referral center. Clin Pediatr 2011; 50:834-843.
  • 15. Oner P, Oner O, Munir K. Three-item Direct Observation Screen (TIDOS) for autism spectrum disorder. Autism 2013; 14. Epub ahead of print. 16. Han JY, Choo A, Shaffer' LG. Molecular cytogenetic characterization of 17 rob (1 3q 1 4q) Robertsonian translocations by fish, narrowing the region containing the breakpoints. Am J Hum Genet 1994; 55:960-967.
  • 17. Rao BV, Kerketta L, Korgaonkar S, Ghosh K. Pericentric inversion of chromosome 9[inv(9) (p12q13)]: Its association with genetic diseases. Ind J Hum Genet 2006; 12:129-132.
  • 18. Dave U, Shetty D. Chromosomal Abnormalities in Mental Retardation: Indian Experience. Int J Hum Genet 2010; 10:21-32.
  • 19. Steiner CE, Guerreiro MM, Marques-de-Faria AP. Genetic and neurological evaluation in a sample of individuals with pervasive developmental disorders. Arq Neuropsiquiatr 2003; 61:176-180.
  • 20. Wassinka TH, Vielandc VJ, Sheffield VC, Bartlett CW, Goedken R, Childress D, et al. Posterior probability of linkage analysis of autism dataset identifies linkage to chromosome 16. Psychiatr Genet 2008; 18:85-91.
  • 21. Vorsanova SG, Yurov IY, Demidova IA, VoinovaUlas VY, Kravets VS, Solov’ev IV, et al. Variability in the heterochoromatin regions of the chromosomes and chromosomal anomalies in children with autism: identification of genetic markers of autistic spectrum disorders. Neurosci Behav Physiol 2007; 37:553-558.
  • 22. Demirhan O, Taştemir D, Diler RS, Firat S, Avci A. A cytogenetic study in 120 Turkish children with intellectual disability and characteristics of fragile X syndrome. Yonsei Med J 2003; 44:583-592.
  • 23. Kilinçaslan A, Tanidir C, Tutkunkardaş MD, Mukaddes NM. Asperger's disorder and Williams syndrome: a case report. Turk J Pediatr 2011; 53:352-3555.
  • 24. Herguner S, Mukaddes NM. Autism and Williams syndrome: a case report. World J Biol Psychiatry 2006; 7:186-188.
  • 25. Haliloglu G, Gross C, Senbil N, Talim B, Hehr U, Uyanik G, et al. Clinical spectrum of muscle-eyebrain disease: from the typical presentation to severe autistic features. Acta Myol 2004; 23:137- 139.
  • 26. Muhle R, Trentacoste SV, Rapin I. The genetics of autism. Pediatrics 2004; 113:e472-e486.
  • 27. Sener EF, Oztop DB, Ozkul Y. MTHFR Gene C677T polymorphism in autism spectrum disorders. Genet Res Int 2014;2014:698574. doi: 10.1155/2014/698574. Epub 2014 Nov 6.
  • 28. Raynes HR, Shanske A, Goldberg S, Burde R, Rapin I. Joubert syndrome: monozygotic twins with discordant phenotypes. J Child Neurol 1999; 14:649-654.
  • 29. Folstein SE, Rosen-Sheidley B. Genetics of autism: complex aetiology for a heterogeneous disorder. Nat Rev Genet 2001; 2:943-955.
  • 30. Gillberg C. Chromosomal disorders and autism. J Autism Dev Disord 1998; 28:415-425.
  • 31. Lauritsen M, Mors O, Mortensen PB, Ewald H. Infantile autism and associated autosomal chromosome abnormalities: a register-based study and a literature survey. J Child Psychol Psychiatry 1999; 40:335-345.
  • 32. Caglayan AO, Gumus H. Autism with del15p.11.1: case report with a new cytogenetic finding. Genet Couns 2010; 21:199-204.
  • 33. Warburton D. De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints. Am J Hum Genet 1991; 49:995-1013.
  • 34. Jacobs PA, Browne C, Gregson N, Joyce C, White H. Estimates of the frequency of chromosome abnormalities detectable in unselected newborns using moderate levels of banding. J Med Genet 1992; 29:103-108.
  • 35. Utine GE, Haliloğlu G, Volkan-Salancı B, Çetinkaya A, Kiper PÖ, Alanay Y, et al. Etiological yield of SNP microarrays in idiopathic intellectual disability. Eur J Paediatr Neurol 2014;18:327-337.
Anadolu Psikiyatri Dergisi-Cover
  • ISSN: 1302-6631
  • Yayın Aralığı: Yılda 6 Sayı
  • Başlangıç: 2000
  • Yayıncı: -
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