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Sağlıklı Bireylerde ve Otizmde Otistik Belirtilerin Sürekliliği

Year 2017, , 1 - 4, 21.04.2017
https://doi.org/10.1501/Tipfak_0000000957

Abstract

Otizm spektrum bozuklukları (OSB) toplumsal etkileșimde ve iletișimde bozulma, buna ek olarak yineleyici hareketlerle karakterize, nörogelișimsel bir bozukluktur. Fenotopine birçok etiyoloji katkıda bulunmakta, farklı tür ve düzeylerde semptomlar gözlenmektedir. Semptomları ve etiyolojisindeki bu çeșitlilik nedeniyle günümüzde “spektrum bozukluğu” olarak adlandırılmaktadır. Spektrum özelliğinin sadece tanı alan bireyler arasında değil toplumda da süreklilik gösterdiği ve etiyolojik olarak ilișkili olduğu öne sürülmektedir. Otizm spektrum bozukluğuna ilișkin görüșlerden biri, sosyal adaptasyon ve iletișim becerisinin toplumda normal dağılım gösterdiği ve negatif uçta kalan bireylerin toplumun sosyal beklentisine uyum sağlayamadıklarıdır. Uçta yer alan, uyum sağlayamayan bu kișiler OSB grubunu olușturmaktadır. Bu görüșle uyumlu olarak son yıllarda sağlıklı populasyonda otistik özellikleri inceleyen çalıșmalar artmaktadır. Çalıșmalar ilk olarak OSB'li kișilerin etkilenmemiș aile bireylerine odaklanmıștır ve karșılıklı sosyal iletișimde anlamlı düzeyde yetersizlik olduğunu göstermiștir. Aynı zamanda OSB'nin kalıtımı yüksek bir bozukluk olması nedeni ile ilișkili kimi genler sağlıklı popülasyonda incelenmiș, çeșitli özellikler ile ilișkili bulunmuștur. Otistik özellik gösteren sağlıklı bireylerde davranıș ve genetik özelliklerinin yanında nörofizyolojik farklılıklar da bildirilmiștir. Tüm bu sonuçlara bakarak otistik özellikli sağlıklı bireylerde, OSB'lilerde gözlenen yapısal ve fonksiyonel değișikliklere benzer değișiklikler olduğu görülmektedir. Sağlıklı bireyler ile OSB'li bireyler arasındaki fizyolojik süreklilik dikkate alındığında OSB'nin toplumda sosyal adaptasyon ve iletișim becerisine göre olușan normal dağılımın uçta kalan kișilerinden oluștuğu görüșü destek kazanmaktadır. 

References

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  • 2. Tohum Otizm Vakfı. Türkiye’de otizm spektrum bozuklukları ve özel eğitim raporu. İstanbul: Tohum Otizm Vakfı; 2010
  • 3. Fakhoury M. Autistic spectrum disorders: A review of clinical features, theories and diagnosis. Int J Dev Neurosci 2015; 43: 70-77.
  • 4. Geschwind DH. Advances in autism. Annu Rev Med 2009; 60: 367-380.
  • 5. Baron-Cohen S. Mindblindness: An essay on autism and theory of mind. 1st ed. Boston: MIT Press/Bradford Books; 1995
  • 6. Lundstrom S, Chang Z, Rastam M, et al. Autism spectrum disorders and autistic like traits: similar etiology in the extreme end and the normal variation. Arch Gen Psychiatry 2012; 69: 46-52.
  • 7. Constantino JN, Todd RD. Autistic traits in the general population: a twin study. Arch Gen Psychiatry 2003; 60: 524-530.
  • 8. Picardi A, Fagnani C, Medda E, et al. Genetic and environmental influences underlying the relationship between autistic traits and temperament and character dimensions in adulthood. Compr Psychiatry 2015; 58: 178-188.
  • 9. Posserud MB, Lundervold AJ, Gillberg C. Autistic features in a total population of 7– 9 year old children assessed by the ASSQ (Autism Spectrum Screening Questionnaire). J Child Psychol Psychiatry 2006; 47: 167-175.
  • 10. Gillberg CL. The Emanuel Miller Memorial Lecture 1991: autism and autistic-like conditions: subclasses among disorders of empathy. J Child Psychol Psychiatry 1992; 33: 813-842
  • 11. Ronald A, Happe F, Plomin R. The genetic relationship between individual differences in social and nonsocial behaviours characteristic of autism. Dev Sci 2005; 8: 444–458.
  • 12. Piven J, Palmer P, Jacobi D, et al. Broader autism phenotype: evidence from a family history study of multiple-incidence autism families. Am J Psychiatry. 1997; 154: 185190.
  • 13. Bolton P, Macdonald H, Pickles A, et al. A case-control family history study of autism. J Child Psychol Psychiatry 1994; 35: 877-900.
  • 14. Constantino JN, Lajonchere C, Lutz M, et al. Autistic social impairment in the siblings of children with pervasive developmental disorders. Am J Psychiatry 2006; 163: 294-296.
  • 15. Losh M, Childress D, Lam K, et al. Defining key features of the broad autism phenotype: a comparison across parents of multiple- and single-incidence autism families. Am J Med Genet B Neuropsychiatr Genet 2008; 147B: 424-433.
  • 16. Ben-Yizhak N, Yirmiya N, Seidman I, et al. Pragmatic language and school related linguistic abilities in siblings of children with autism. Journal of Autism and Developmental Disorders 2011; 41: 750–760.
  • 17. Bishop DVM, Maybery M, Maley A, et al. Using self-report to identify the broad phenotype in parents of children with autistic spectrum disorders: a study using the Autism-Spectrum Quotient. Journal of Child Psychology and Psychiatry 2004; 45: 1431–1436.
  • 18. Whitehouse AJO, Barry JG, Bishop DVM, et al. The broader language phenotype of autism: a comparison with specific language impairment. Journal of Child Psychology and Psychiatry 2007; 48: 822–830. 19. Chuthapisith J, Ruangdaraganon N, Sombuntham T, et al. Language development among the siblings of children with autistic spectrum disorder. Autism 2007; 11: 149–160.
  • 20. Constantino J N, Zhang Y, Frazier T, et al. Sibling recurrence and the genetic epidemiology of autism. The American Journal of Psychiatry 2010; 167: 1349–1356.
  • 21. Szatmari P, Georgiades S, Duku E, et al. Alexithymia in parents of children with autism spectrum disorder. Journal of Autism and Developmental Disorders 2008; 38: 1859–1865.
  • 22. Briskman J, Happe F, Frith U. Exploring the cognitive phenotype of autism: weak “central coherence” in parents and siblings of children with autism: II. Real-life skills and preferences. Journal of Child Psychology and Psychiatry 2001; 42: 309–316.
  • 23. Rosenberg RE, Law JK, Yenokyan G. Characteristics and concordance of autism spectrum disorders among 277 twin pairs. Arch Pediatr Adolesc Med 2009; 163: 907914.
  • 24. Ronald A, Hoekstra RA. Autism spectrum disorders and autistic traits: a decade of new twin studies. Am J Med Genet B Neuropsychiatr Genet 2011; 156B: 255–274.
  • 25. St Pourcain B, Wang K, Glessner JT. Association between a high-risk autism locus on 5p14 and social communication spectrum phenotypes in the general population. Am J Psychiatry 2010; 167: 1364-1372.
  • 26. Whitehouse AJ, Bishop DV, Ang QW. CNTNAP2 variants affect early language development in the general population. Genes Brain Behav 2011; 10: 451–456.
  • 27. Dennis EL, Jahanshad N, Rudie JD, et al. Altered structural brain connectivity in healthy carriers of the autism risk gene, CNTNAP2. Brain Connect 2011; 1: 447459.
  • 28. Jones RM, Cadby G, Blangero J, et al. MACROD2 gene associated with autisticlike traits in a general population sample. Psychiatric Genetics 2014; 24: 241–248.
  • 29. Lundstrom S, Haworth CM, Carlstrom E, et al. Trajectories leading to autism spectrum disorders are affected by paternal age: findings from two nationally representative twin studies. J Child Psychol Psychiatry 2010; 51: 850-856.
  • 30. Williamson KE, Jakobson LS. Social attribution skills of children born preterm at very low birth weight. Dev Psychopathol. 2014; 26: 889-900.
  • 31. Di Martino A, Shehzad Z, Kelly C, et al. Relationship between cingulo-insular functional connectivity and autistic traits in neurotypical adults. Am J Psychiatry 2009; 166: 891-899.
  • 32. Suda M, Takei Y, Aoyama Y, et al. Autistic traits and brain activation during face-toface conversations in typically developed adults. PLoS One 2011; 6: e20021.
  • 33. Von Dem Hagen EA, Nummenmaa L, Yu R, et al. Autism spectrum traits in the typical population predict structure and function in the posterior superior temporal sulcus. Cereb Cortex 2011; 21: 493-500.
  • 34. Wallace GL, Shaw P, Lee NR, et al. Distinct cortical correlates of autistic versus antisocial traits in a longitudinal sample of typically developing youth. J Neurosci 2012; 32: 4856-4860.
  • 35. Dawson G,Webb SJ, Wijsman E, et al. Neurocognitive and electrophysiological evidence of altered face processing in parents of children with autism: implications for a model of abnormal development of social brain circuitry in autism. Dev Psychopathol 2005; 17: 679–697.
  • 36. Koh Hc, Milne E, Dobkins K. Contrast sensitivity for motion detection and direction discrimination in adolescents with autism spectrum disorders and their siblings. Neuropsychologia 2010; 48: 4046–4056
  • 37. Rojas DC, Teale PD, Maharajh K. Transient and steady-state auditory gammaband responses in first-degree relatives of people with autism spectrum disorder. Mol Autism 2011; 2: 11.
  • 38. Fan YT, Cheng Y. Atypical mismatch negativity in response to emotional voices in people with autism spectrum conditions. PLoS One 2014; 9: e102471.
  • 39. Barttfeld P, Amoruso L, Ais J, et al. Organization of brain networks governed by long-range connections index autistic traits in the general population. J Neurodev Disord 2013; 5: 16.
  • 40. Dickinson A, Bruyns-Haylett M, Jones M, et al. Increased peak gamma frequency in individuals with higher levels of autistic traits. Eur J Neurosci 2015; 41: 1095-1101.
  • 41. Geschwind DH. Genetics of autism spectrum disorders. Trends Cogn Sci 2011; 15: 409-416.
  • 42. Berg J, Geschwind D. Autism genetics: searching for specificity and convergence. Genome Biol 2012; 13: 1–16
  • 43. Huguet G, Ey E, Bourgeron T. The genetic landscapes of autism spectrum disorders. Annu Rev Genomics Hum Genet 2013; 14: 191-213.
Year 2017, , 1 - 4, 21.04.2017
https://doi.org/10.1501/Tipfak_0000000957

Abstract

References

  • 1. American Psychiatric Association. Diagnostic and statistical manual of mental disorders. 5th ed. Washington DC: American Psychiatric Association; 2013
  • 2. Tohum Otizm Vakfı. Türkiye’de otizm spektrum bozuklukları ve özel eğitim raporu. İstanbul: Tohum Otizm Vakfı; 2010
  • 3. Fakhoury M. Autistic spectrum disorders: A review of clinical features, theories and diagnosis. Int J Dev Neurosci 2015; 43: 70-77.
  • 4. Geschwind DH. Advances in autism. Annu Rev Med 2009; 60: 367-380.
  • 5. Baron-Cohen S. Mindblindness: An essay on autism and theory of mind. 1st ed. Boston: MIT Press/Bradford Books; 1995
  • 6. Lundstrom S, Chang Z, Rastam M, et al. Autism spectrum disorders and autistic like traits: similar etiology in the extreme end and the normal variation. Arch Gen Psychiatry 2012; 69: 46-52.
  • 7. Constantino JN, Todd RD. Autistic traits in the general population: a twin study. Arch Gen Psychiatry 2003; 60: 524-530.
  • 8. Picardi A, Fagnani C, Medda E, et al. Genetic and environmental influences underlying the relationship between autistic traits and temperament and character dimensions in adulthood. Compr Psychiatry 2015; 58: 178-188.
  • 9. Posserud MB, Lundervold AJ, Gillberg C. Autistic features in a total population of 7– 9 year old children assessed by the ASSQ (Autism Spectrum Screening Questionnaire). J Child Psychol Psychiatry 2006; 47: 167-175.
  • 10. Gillberg CL. The Emanuel Miller Memorial Lecture 1991: autism and autistic-like conditions: subclasses among disorders of empathy. J Child Psychol Psychiatry 1992; 33: 813-842
  • 11. Ronald A, Happe F, Plomin R. The genetic relationship between individual differences in social and nonsocial behaviours characteristic of autism. Dev Sci 2005; 8: 444–458.
  • 12. Piven J, Palmer P, Jacobi D, et al. Broader autism phenotype: evidence from a family history study of multiple-incidence autism families. Am J Psychiatry. 1997; 154: 185190.
  • 13. Bolton P, Macdonald H, Pickles A, et al. A case-control family history study of autism. J Child Psychol Psychiatry 1994; 35: 877-900.
  • 14. Constantino JN, Lajonchere C, Lutz M, et al. Autistic social impairment in the siblings of children with pervasive developmental disorders. Am J Psychiatry 2006; 163: 294-296.
  • 15. Losh M, Childress D, Lam K, et al. Defining key features of the broad autism phenotype: a comparison across parents of multiple- and single-incidence autism families. Am J Med Genet B Neuropsychiatr Genet 2008; 147B: 424-433.
  • 16. Ben-Yizhak N, Yirmiya N, Seidman I, et al. Pragmatic language and school related linguistic abilities in siblings of children with autism. Journal of Autism and Developmental Disorders 2011; 41: 750–760.
  • 17. Bishop DVM, Maybery M, Maley A, et al. Using self-report to identify the broad phenotype in parents of children with autistic spectrum disorders: a study using the Autism-Spectrum Quotient. Journal of Child Psychology and Psychiatry 2004; 45: 1431–1436.
  • 18. Whitehouse AJO, Barry JG, Bishop DVM, et al. The broader language phenotype of autism: a comparison with specific language impairment. Journal of Child Psychology and Psychiatry 2007; 48: 822–830. 19. Chuthapisith J, Ruangdaraganon N, Sombuntham T, et al. Language development among the siblings of children with autistic spectrum disorder. Autism 2007; 11: 149–160.
  • 20. Constantino J N, Zhang Y, Frazier T, et al. Sibling recurrence and the genetic epidemiology of autism. The American Journal of Psychiatry 2010; 167: 1349–1356.
  • 21. Szatmari P, Georgiades S, Duku E, et al. Alexithymia in parents of children with autism spectrum disorder. Journal of Autism and Developmental Disorders 2008; 38: 1859–1865.
  • 22. Briskman J, Happe F, Frith U. Exploring the cognitive phenotype of autism: weak “central coherence” in parents and siblings of children with autism: II. Real-life skills and preferences. Journal of Child Psychology and Psychiatry 2001; 42: 309–316.
  • 23. Rosenberg RE, Law JK, Yenokyan G. Characteristics and concordance of autism spectrum disorders among 277 twin pairs. Arch Pediatr Adolesc Med 2009; 163: 907914.
  • 24. Ronald A, Hoekstra RA. Autism spectrum disorders and autistic traits: a decade of new twin studies. Am J Med Genet B Neuropsychiatr Genet 2011; 156B: 255–274.
  • 25. St Pourcain B, Wang K, Glessner JT. Association between a high-risk autism locus on 5p14 and social communication spectrum phenotypes in the general population. Am J Psychiatry 2010; 167: 1364-1372.
  • 26. Whitehouse AJ, Bishop DV, Ang QW. CNTNAP2 variants affect early language development in the general population. Genes Brain Behav 2011; 10: 451–456.
  • 27. Dennis EL, Jahanshad N, Rudie JD, et al. Altered structural brain connectivity in healthy carriers of the autism risk gene, CNTNAP2. Brain Connect 2011; 1: 447459.
  • 28. Jones RM, Cadby G, Blangero J, et al. MACROD2 gene associated with autisticlike traits in a general population sample. Psychiatric Genetics 2014; 24: 241–248.
  • 29. Lundstrom S, Haworth CM, Carlstrom E, et al. Trajectories leading to autism spectrum disorders are affected by paternal age: findings from two nationally representative twin studies. J Child Psychol Psychiatry 2010; 51: 850-856.
  • 30. Williamson KE, Jakobson LS. Social attribution skills of children born preterm at very low birth weight. Dev Psychopathol. 2014; 26: 889-900.
  • 31. Di Martino A, Shehzad Z, Kelly C, et al. Relationship between cingulo-insular functional connectivity and autistic traits in neurotypical adults. Am J Psychiatry 2009; 166: 891-899.
  • 32. Suda M, Takei Y, Aoyama Y, et al. Autistic traits and brain activation during face-toface conversations in typically developed adults. PLoS One 2011; 6: e20021.
  • 33. Von Dem Hagen EA, Nummenmaa L, Yu R, et al. Autism spectrum traits in the typical population predict structure and function in the posterior superior temporal sulcus. Cereb Cortex 2011; 21: 493-500.
  • 34. Wallace GL, Shaw P, Lee NR, et al. Distinct cortical correlates of autistic versus antisocial traits in a longitudinal sample of typically developing youth. J Neurosci 2012; 32: 4856-4860.
  • 35. Dawson G,Webb SJ, Wijsman E, et al. Neurocognitive and electrophysiological evidence of altered face processing in parents of children with autism: implications for a model of abnormal development of social brain circuitry in autism. Dev Psychopathol 2005; 17: 679–697.
  • 36. Koh Hc, Milne E, Dobkins K. Contrast sensitivity for motion detection and direction discrimination in adolescents with autism spectrum disorders and their siblings. Neuropsychologia 2010; 48: 4046–4056
  • 37. Rojas DC, Teale PD, Maharajh K. Transient and steady-state auditory gammaband responses in first-degree relatives of people with autism spectrum disorder. Mol Autism 2011; 2: 11.
  • 38. Fan YT, Cheng Y. Atypical mismatch negativity in response to emotional voices in people with autism spectrum conditions. PLoS One 2014; 9: e102471.
  • 39. Barttfeld P, Amoruso L, Ais J, et al. Organization of brain networks governed by long-range connections index autistic traits in the general population. J Neurodev Disord 2013; 5: 16.
  • 40. Dickinson A, Bruyns-Haylett M, Jones M, et al. Increased peak gamma frequency in individuals with higher levels of autistic traits. Eur J Neurosci 2015; 41: 1095-1101.
  • 41. Geschwind DH. Genetics of autism spectrum disorders. Trends Cogn Sci 2011; 15: 409-416.
  • 42. Berg J, Geschwind D. Autism genetics: searching for specificity and convergence. Genome Biol 2012; 13: 1–16
  • 43. Huguet G, Ey E, Bourgeron T. The genetic landscapes of autism spectrum disorders. Annu Rev Genomics Hum Genet 2013; 14: 191-213.
There are 42 citations in total.

Details

Primary Language Turkish
Subjects Health Care Administration
Journal Section Articles
Authors

Simge Aykan This is me

Publication Date April 21, 2017
Published in Issue Year 2017

Cite

APA Aykan, S. (2017). Sağlıklı Bireylerde ve Otizmde Otistik Belirtilerin Sürekliliği. Ankara Üniversitesi Tıp Fakültesi Mecmuası, 70(1), 1-4. https://doi.org/10.1501/Tipfak_0000000957
AMA Aykan S. Sağlıklı Bireylerde ve Otizmde Otistik Belirtilerin Sürekliliği. Ankara Üniversitesi Tıp Fakültesi Mecmuası. April 2017;70(1):1-4. doi:10.1501/Tipfak_0000000957
Chicago Aykan, Simge. “Sağlıklı Bireylerde Ve Otizmde Otistik Belirtilerin Sürekliliği”. Ankara Üniversitesi Tıp Fakültesi Mecmuası 70, no. 1 (April 2017): 1-4. https://doi.org/10.1501/Tipfak_0000000957.
EndNote Aykan S (April 1, 2017) Sağlıklı Bireylerde ve Otizmde Otistik Belirtilerin Sürekliliği. Ankara Üniversitesi Tıp Fakültesi Mecmuası 70 1 1–4.
IEEE S. Aykan, “Sağlıklı Bireylerde ve Otizmde Otistik Belirtilerin Sürekliliği”, Ankara Üniversitesi Tıp Fakültesi Mecmuası, vol. 70, no. 1, pp. 1–4, 2017, doi: 10.1501/Tipfak_0000000957.
ISNAD Aykan, Simge. “Sağlıklı Bireylerde Ve Otizmde Otistik Belirtilerin Sürekliliği”. Ankara Üniversitesi Tıp Fakültesi Mecmuası 70/1 (April 2017), 1-4. https://doi.org/10.1501/Tipfak_0000000957.
JAMA Aykan S. Sağlıklı Bireylerde ve Otizmde Otistik Belirtilerin Sürekliliği. Ankara Üniversitesi Tıp Fakültesi Mecmuası. 2017;70:1–4.
MLA Aykan, Simge. “Sağlıklı Bireylerde Ve Otizmde Otistik Belirtilerin Sürekliliği”. Ankara Üniversitesi Tıp Fakültesi Mecmuası, vol. 70, no. 1, 2017, pp. 1-4, doi:10.1501/Tipfak_0000000957.
Vancouver Aykan S. Sağlıklı Bireylerde ve Otizmde Otistik Belirtilerin Sürekliliği. Ankara Üniversitesi Tıp Fakültesi Mecmuası. 2017;70(1):1-4.