Otizm spektrum bozukluğu olan çocukların sağlıklı kardeşlerinin fiziksel morfolojik özellikler açısından değerlendirilmesi

Amaç: Çalışmanın amacı, otizm spektrum bozukluğu olan çocukların sağlıklı gelişim gösteren kardeşlerini fiziksel morfolojik özelliklerden el parmak oranları ve saç döneri özellikleri açısından, sosyodemografik özellikleri bire bir eşleştirilmiş sağlıklı gelişim gösteren çocuklarla karşılaştırmak ve geniş otizm fenotipi kavramını değerlendirmektir. Yöntem: Çalışmaya DSM-IV-TR'ye göre otistik bozukluk, Asperger bozukluğu ve yaygın gelişimsel bozukluk-başka türlü adlandırılamayan tanısı konmuş 41 hastanın sağlıklı gelişim gösteren 41 kardeşi ve ailesinde herhangi bir psikiyatrik bozukluk öyküsü olmayan ve sağlıklı gelişim gösteren 43 kontrol alındı. Çalışmaya katılan tüm çocuklarla bir tanısal psikiyatrik görüşme yapılmıştır. Çalışma ve kontrol grubunun iki ellerinin ikinci (2D) ve dördüncü (4D) parmak uzunlukları ölçülmüş ve çalışmaya alınan katılımcılardan erkeklerin saç kıvrım özellikleri değerlendirilmiştir. Sonuç: Çalışma grubunun iki el ikinci parmağın dördüncü parmağa oranı (2D/4D) anlamlı olarak daha düşüktü. Çalışma grubunun erkek katılımcılarının saç kıvrımları kontrol grubu ile karşılaştırıldığında anlamlı olarak daha fazla saat yönünün tersi yönündeydi. Tartışma: Çalışmamızda parmak oranları açısından bulunan bulgunun literatürde otizm için tanımlanan aşırı erkek beyni (extreme male brain) kuramı ile uyumlu olduğu düşünülmüştür. Lateralizasyonun bir biyolojik bulgusu olan saç döneri yönünün bu çocuklarda anlamlı olarak farklı yönde olması lateralizasyonun normal gelişiminde aksama olabileceğini düşündürmüştür.

Assessment of physical morphological features of typically developing siblings of children who were diagnosed with autism spectrum disorder

Objective: The aim of this study was to compare typically developing siblings of children, who were diagnosed with autism spectrum disorders, with typically developing children matched by sociodemographic characteristics, in terms of finger length ratio and hair whorl features and evaluate the concept of the broad autism phenotype. Methods: Forty-one typically developing siblings of 41 cases who were diagnosed autistic disorder, Asperger disorder and pervasive developmental disorder-not otherwise specified according to DSM-IV-TR and 43 controls of typically developing children, who has no history of any psychiatric disorder in their family, were included. Psychiatric diagnostic interview were applied to all children who admitted to the study. The length of the second and fourth fingers of both hands were measured in the study and control group. Hair whorl features of males, who admitted to the study, were assessed in both groups. Conclusion: 2D/4D ratio of both hands were significantly lower in study group. The hair whorls of males in study group were significantly more counterclockwise rotated when compared with control group. Discussion: In our study it is assumed that the findings according to finger ratio were consistent with 'extreme male brain' theory, which is identified for autism before. A significant difference of the direction of rotation of hair whorl in males, which is a biological finding of lateralization, indicated that there may be disruptions in the normal development of lateralization in typically developing siblings of autism.

Kaynakça

Amerikan Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders. Fourth ed., Washington, DC: APA Press, 1994.

Chakrabarti S, Fombonne E. Pervasive develop- mental disorders in preschool children: confirma- tion of high prevalence. Am J Psychiatry 2005; 162:1133-1141.

Veenstra-VanderWeele J, Cook EH Jr. Molecular genetics of autism spectrum disorder. Mol Psychi- atry 2004; 9:819-832.

Kim YS, Leventhal BL, Koh YJ, Fombonne E, Laska E, Lim EC et al. Prevalence of autism spec- trum disorders in a total population sample. Am J Psychiatry 2011; 168:904-912.

Smalley SL, Asarnow RF, Spence A. Autism and genetics: a decade of research. Arch Gen Psychi- atry 1988; 45: 953-961.

Waldrop MF, Pederson FA, Bell RQ. Minor physi- cal anomalies and behaviour in preschool chil- dren. Child Dev 1968; 39:391-400.

Ismail B, Cantor-Graae E, McNeil TF. Minor physi- cal anomalies in schizophrenic patients and their siblings. Am J Psychiatry 1998; 155:1695-1702.

Trixler M, Tenyi T, Csabi G, Szabo R. Minor physi- cal anomalies in schizophrenia and bipolar affec- tive disorders. Schizophr Res 2001; 52:195-201.

Ozgen H, Hellemann GS, Stellato RK, Lahuis B, van Daalen E, Staal WG, et al. Morphological features in children with autism spectrum disor- ders: a matched case-control study. J Autism Dev Disord 2011; 41:23-31.

Ozgen HM, Hop JW, Hox JJ, Beemer FA, van Engeland H. Minor physical anomalies in autism: A meta-analysis. Mol Psychiatry 2010; 15:300- 307.

Rodier PM, Bryson SE, Welch JP. Minor malfor- mations and physical measurements in autism: data from Nova Scotia. Teratology 1997; 55:319- 325.

Lohr JB, Flynn K. Minor physical anomalies in schizophrenia and mood disorders. Schizophr Bull 1993; 19:551-556.

Baron-Cohen S, Hammer J. Is autism an extreme form of the male brain? Advances in Infancy Research 1997; 11:193-217.

Geschwind N, Behan P. Left-handedness: associ- ation with immune disease, migraine and develop- mental learning disorder. Proceedings of the National Academy of Sciences USA 1982; 79:5097-5100.

Krajmer P, Spajdel M, Kubranska A, Ostatnikova D. 2D:4D finger ratio in Slovak autism spectrum population. Bratisl Lek Listy 2011; 112:377-379.

McIntyre MH. The use of digit ratios as markers for perinatal androgen action. Reprod Biol Endoc- rinol 2006; 4:10.

Bloom MS, Houston AS, Mills JL, Molloy CA, Hediger ML. Finger bone immaturity and 2D:4D ratio measurement error in the assessment of the hyperandrogenic hypothesis for the etiology of autism spectrum disorders. Physiol Behav 2010; 100:221-224.

Manning JT, Scutt D, Wilson J, Lewis-Jones DI. The ratio of 2nd to 4th digit length: a predictor of sperm numbers and concentrations of testoste- rone, luteinizing hormone and oestrogen. Hum Reprod 1998; 13:3000-3004.

Garn SM, Burdi AR, Babler WJ, Stinson S. Early prenatal attainment of adult metacarpal-phalan- geal rankings and proportions. American Journal of Physical Anthropology 1975; 43:327-332.

Noipayak P. The ratio of 2nd and 4th digit length in autistic children. J Med Assoc Thai 2009; 92:1040-1045.

De Bruin EI, Verheij F, Wiegman T, Ferdinand RF. Differences in finger length ratio between males with autism, pervasive developmental disorder- not otherwise specified, ADHD, and anxiety disor- ders. Dev Med Child Neurol 2006; 48:962-965.

Manning JT, Baron-Cohen S, Wheelwright S, Sanders G. The 2nd to 4th digit ratio and autism. Dev Med Child Neurol 2001; 43:160-164.

Knickmeyer R, Baron-Cohen S, Raggatt P, Taylor K. Foetal testosterone, social relationships, and restricted interests in children. J Child Psychol Psychiatry 2005; 46:198-210.

Lutchmaya S, Baron-Cohen S, Raggatt P, Knick- meyer R, Manning JT. 2nd to 4th digit ratios, fetal testosterone and estradiol. Early Hum Dev 2004; 77:23-28.

Falter CM, Plaisted KC, Davis G. Visuo-spatial processing in autism-- testing the predictions of extreme male brain theory. J Autism Dev Disord 2008; 38:507-515.

Kleinhans NM, Müller RA, Cohen DN, Cour- chesne E. Atypical functional lateralization of language in autism spectrum disorders. Brain Res 2008; 24:115-125.

Aksu F, Baykara B, Ergin C, Arman C. Otistik bireylerde fenotipik özellikler: 2D/4D parmak oran- ları, saç döneri ve el baskınlığı özellikleri. Türk Psikiyatri Dergisi 2013; 24:94-100.

Weber B, Hoppe C, Faber J, Axmacher N, Flib- bach K, Mormann F ve ark. Association between scalp hair-whorl direction and hemispheric langu- age dominance. Neurolmage 2006; 30:539-543.

Kaufman J, Birmaher B, Brent D, Rao U, Flynn C, Moreci P, et al. Schedule for affective disorders and schizophrenia for schoolage children-present and lifetime version (K-SADS-PL): Initial reliability and validity data. J Am Acad Child Adolesct Psychiatry 1997; 36:980-988.

Schopler E, Reichler RJ, Rochen Renner B. The Childhood Autism Rating Scale (CARS). 11th ed., Western Psychological Services, 2007.

İncekaş S. Çocukluk Otizmini Derecelendirme Ölçeği Geçerlik ve Güvenirlik Çalışması. Yayım- lanmamış Uzmanlık Tezi, İzmir, Dokuz Eylül Üniversitesi Tıp Fakültesi, 2009.

Avcil S, Baykara B, Baydur H, Munir KM, Emiroğlu Nİ. 4-18 Yaş Aralığındaki Otistik Bireylerde Sosyal İletişim Ölçeği Türkçe Formunun Geçerlik ve Güvenilirlik Çalışması. Türk Psikiyatri Dergisi 2015; 26:56-64.

Rutter M, Bailey A, Lord C. The Social Communication Questionnaire (SCQ). Second ed., Western Psychological Services, 2007.

Ozgen H, Helleman GS, De Jonge MV, Beemer FA, van Engeland H. Predictive value of morphological features in patients with autism versus normal controls. J Autism Dev Disord 2013; 43:147-155.

Walker HA. Incidence of minor physical anomaly in autism. J Autism Child Schizophrenia 1997; 7:165-176.

Rzhetsky A, Wajngurt D, Park N, Zheng T. Probing genetic overlap among complex human phenotypes. Proceedings of the National Academy of Sciences of the United States of America 2007; 104:11694-11699

De Bruin EI, De Nijs PF, Verheij F, Verhagen DH, Ferdinand RF. Autistic features in girls from a psychiatric sample are strongly associated with a low 2D:4D ratio. Autism 2009; 13:511-521.

Kaynak Göster