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Gepubliceerd in: Journal of Autism and Developmental Disorders 10/2015

03-06-2015 | Original Paper

The Association Between Autism Spectrum Disorders and Congenital Anomalies by Organ Systems in a Finnish National Birth Cohort

Auteurs: Laura Timonen-Soivio, Andre Sourander, Heli Malm, Susanna Hinkka-Yli-Salomäki, Mika Gissler, Alan Brown, Raija Vanhala

Gepubliceerd in: Journal of Autism and Developmental Disorders | Uitgave 10/2015

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Abstract

The aim of this study was to evaluate the association between autism spectrum disorders (ASD) with and without intellectual disability (ID) and congenital anomalies (CAs) by organ system. The sample included all children diagnosed with ASD (n = 4441) from the Finnish Hospital Discharge Register during 1987–2000 and a total of four controls per case (n = 17,695). CAs of the eye, central nervous system, and specific craniofacial anomalies were most strongly associated with ASD. Children with ASD and co-occurring ID were more likely to have CAs compared to ASD children without ID. The results suggest that some cases of ASD may originate during organogenesis, in the early first trimester of pregnancy. The results of this study may be useful for identifying prenatal etiological factors and elucidating the molecular pathogenesis of ASD.
Literatuur
go back to reference Ardnt, T., Stodgell, C., & Rodier, P. (2005). The teratology of autism. International Journal of Developmental Neuroscience, 23(2–3), 189–199. Ardnt, T., Stodgell, C., & Rodier, P. (2005). The teratology of autism. International Journal of Developmental Neuroscience, 23(2–3), 189–199.
go back to reference Bandim, J., Ventura, L., Miller, M., Almeida, H., & Costa, A. (2003). Autism and Möbius sequence: An exploratory study in northeastern Brazil. Arquivos de Neuro-Psiquiatria, 61(2), 181–185. CrossRefPubMed Bandim, J., Ventura, L., Miller, M., Almeida, H., & Costa, A. (2003). Autism and Möbius sequence: An exploratory study in northeastern Brazil. Arquivos de Neuro-Psiquiatria, 61(2), 181–185. CrossRefPubMed
go back to reference Bauman, M. L., & Kemper, T. L. (2003). The neuropathology of the autism spectrum disorders: what have we learned? Novartis Foundation Symposium, 251, 112–122. CrossRefPubMed Bauman, M. L., & Kemper, T. L. (2003). The neuropathology of the autism spectrum disorders: what have we learned? Novartis Foundation Symposium, 251, 112–122. CrossRefPubMed
go back to reference Chen, C., Chen, K., Liu, C., Huang, S., & Lin, K. (2009). Increased risk of congenital, neurologic, and endocrine disorders associated with autism in preschool children: Cognitive ability differences. The Journal of Pediatrics, 154(3), 345–350. CrossRefPubMed Chen, C., Chen, K., Liu, C., Huang, S., & Lin, K. (2009). Increased risk of congenital, neurologic, and endocrine disorders associated with autism in preschool children: Cognitive ability differences. The Journal of Pediatrics, 154(3), 345–350. CrossRefPubMed
go back to reference Cohen, D., Pichard, N., Torjuan, S., Baumann, C., Burglen, L., Excoffier, E., et al. (2005). Spesific genetic disorders and autism: Clinical contribution towards their identification. Journal of Autism and Developmental Disorders, 35(1), 103–116. CrossRefPubMed Cohen, D., Pichard, N., Torjuan, S., Baumann, C., Burglen, L., Excoffier, E., et al. (2005). Spesific genetic disorders and autism: Clinical contribution towards their identification. Journal of Autism and Developmental Disorders, 35(1), 103–116. CrossRefPubMed
go back to reference Dawson, S., Glasson, E., Dixon, G., & Bower, C. (2009). Birth defects in children with autism spectrum disorders. American Journal of Epidemiology, 169(11), 1296–1303. CrossRefPubMed Dawson, S., Glasson, E., Dixon, G., & Bower, C. (2009). Birth defects in children with autism spectrum disorders. American Journal of Epidemiology, 169(11), 1296–1303. CrossRefPubMed
go back to reference De Rubeis, S., He, X., Goldberg, A. P., Pouiltney, C. S., Sarocha, K., & Cicek, A. E. (2014). Synaptic, transcriptional and chromatin genes disrupted in autism. Nature, 13, 209–215. CrossRef De Rubeis, S., He, X., Goldberg, A. P., Pouiltney, C. S., Sarocha, K., & Cicek, A. E. (2014). Synaptic, transcriptional and chromatin genes disrupted in autism. Nature, 13, 209–215. CrossRef
go back to reference Diewert, V. M., & Lozanoff, S. (1993). Growth and morphogenesis of the human embryonic midface during primary palate formation analyzed in fetal sections. Journal of craniofacial genetics Developmental Biology, 13(3), 162–183. PubMed Diewert, V. M., & Lozanoff, S. (1993). Growth and morphogenesis of the human embryonic midface during primary palate formation analyzed in fetal sections. Journal of craniofacial genetics Developmental Biology, 13(3), 162–183. PubMed
go back to reference Dufour-Rainfray, D., Vourch, P., Tourlet, S., Guilloteau, D., Chalon, S., & Andres, C. R. (2011). Fetal exposure to teratogens: evidence of genes involved in autism. Neuroscience Biobehavioral Reviews, 35, 1254–1265. CrossRefPubMed Dufour-Rainfray, D., Vourch, P., Tourlet, S., Guilloteau, D., Chalon, S., & Andres, C. R. (2011). Fetal exposure to teratogens: evidence of genes involved in autism. Neuroscience Biobehavioral Reviews, 35, 1254–1265. CrossRefPubMed
go back to reference European surveillance of Congenital Anomalies (EUROCAT), World Health Organization (WHO), Collaboration Centre of Surveillance of Congenital Anomalies (2005). Guide 1.3 Instruction for the registration and surveillance of congenital anomalies. UK: EUROCAT Central Registry, University of Ulster. European surveillance of Congenital Anomalies (EUROCAT), World Health Organization (WHO), Collaboration Centre of Surveillance of Congenital Anomalies (2005). Guide 1.3 Instruction for the registration and surveillance of congenital anomalies. UK: EUROCAT Central Registry, University of Ulster.
go back to reference Gardener, H., Spiegelman, B., & Buka, S. L. (2011). Perinatal and neonatal risk factors for autism: comprehensive meta-analysis. Pediatrics, 128(2), 344–355. PubMedCentralCrossRefPubMed Gardener, H., Spiegelman, B., & Buka, S. L. (2011). Perinatal and neonatal risk factors for autism: comprehensive meta-analysis. Pediatrics, 128(2), 344–355. PubMedCentralCrossRefPubMed
go back to reference Gaugler, T., Klei, L., Sanders, S. J., Bodea, C. A., Goldberg, A. P., & Lee, A. B. (2014). Most genetic risk for autism resides with common variation. Nature Genetics, 46(8), 881–885. PubMedCentralCrossRefPubMed Gaugler, T., Klei, L., Sanders, S. J., Bodea, C. A., Goldberg, A. P., & Lee, A. B. (2014). Most genetic risk for autism resides with common variation. Nature Genetics, 46(8), 881–885. PubMedCentralCrossRefPubMed
go back to reference Guillem, P., Cans, C., Ginchat, V., Ratel, M., & Jouk, P.-S. (2006). Trends, perinatal characteristics, and medical conditions in pervasive developmental disorders. Developmental Medicine and Child Neurology, 48, 896–900. CrossRefPubMed Guillem, P., Cans, C., Ginchat, V., Ratel, M., & Jouk, P.-S. (2006). Trends, perinatal characteristics, and medical conditions in pervasive developmental disorders. Developmental Medicine and Child Neurology, 48, 896–900. CrossRefPubMed
go back to reference Hardan, A. Y., Keshavan, M. S., Sreedhar, S., Vemulapalli, M., & Minshew, N. J. (2006). An MRI study of minor physical anomalies in autism. Journal of Autism and Developmental Disorders, 36(5), 607–611. CrossRefPubMed Hardan, A. Y., Keshavan, M. S., Sreedhar, S., Vemulapalli, M., & Minshew, N. J. (2006). An MRI study of minor physical anomalies in autism. Journal of Autism and Developmental Disorders, 36(5), 607–611. CrossRefPubMed
go back to reference Hultman, C., Sandin, S., Levine, S., Lichtenstein, P., & Reichenborg, A. (2011). Advancing paternal age and risk of autism: New evidence from a population based study and a meta-analysis of epidemiological studies. Molecular Psychiatry, 16(12), 1203–1212. CrossRefPubMed Hultman, C., Sandin, S., Levine, S., Lichtenstein, P., & Reichenborg, A. (2011). Advancing paternal age and risk of autism: New evidence from a population based study and a meta-analysis of epidemiological studies. Molecular Psychiatry, 16(12), 1203–1212. CrossRefPubMed
go back to reference Hultman, C., Sparen, P., & Cnattingius, S. (2002). Perinatal risk factors for infantile autism. Epidemiology, 13(4), 417–423. CrossRefPubMed Hultman, C., Sparen, P., & Cnattingius, S. (2002). Perinatal risk factors for infantile autism. Epidemiology, 13(4), 417–423. CrossRefPubMed
go back to reference International Clearinghouse of Birth Defects, Surveillance and Research (ICBDR) (2001). Report of a WHO registry meeting on craniofacial anomalies (pp. 9–10). International Clearinghouse of Birth Defects, Surveillance and Research (ICBDR) (2001). Report of a WHO registry meeting on craniofacial anomalies (pp. 9–10).
go back to reference Jokiranta, E., Brown, A., Heinimaa, M., Cheslack-Postava, K., Suominen, A., & Sourander, A. (2013). Parental psychiatric disorders and autism spectrum disorders. Psychiatry Research, 30(3), 203–211. CrossRef Jokiranta, E., Brown, A., Heinimaa, M., Cheslack-Postava, K., Suominen, A., & Sourander, A. (2013). Parental psychiatric disorders and autism spectrum disorders. Psychiatry Research, 30(3), 203–211. CrossRef
go back to reference Kim, K. C., Kim, P., Go, H. S., Choi, C. S., Yang, S. I., Cheong, J. H., et al. (2011). The critical period of valproate exposure to induce autistic symptoms in Spraque-Dawley rats. Toxicology Letters, 201(2), 137–142. CrossRefPubMed Kim, K. C., Kim, P., Go, H. S., Choi, C. S., Yang, S. I., Cheong, J. H., et al. (2011). The critical period of valproate exposure to induce autistic symptoms in Spraque-Dawley rats. Toxicology Letters, 201(2), 137–142. CrossRefPubMed
go back to reference Lampi, K. M., Banerjee, P. N., Gissler, M., Hinkka-Yli- Salomäki, S., Huttunen, J., Kulmala, U., et al. (2011). Finnish Prenatal Study of Autism and autism spectrum disorders: Overview and design. Journal of Autism and Developmental Disorders, 41(8), 1090–1096. CrossRefPubMed Lampi, K. M., Banerjee, P. N., Gissler, M., Hinkka-Yli- Salomäki, S., Huttunen, J., Kulmala, U., et al. (2011). Finnish Prenatal Study of Autism and autism spectrum disorders: Overview and design. Journal of Autism and Developmental Disorders, 41(8), 1090–1096. CrossRefPubMed
go back to reference Lampi, K., Hinkka-Yli-Salomäki, S., Lehti, V., Helenius, H., Gissler, M., Brown, A., & Sourander, A. (2013). Parental age and risk of ASD in a Finnish National Birth Cohort. Journal of Autism and Developmental Disorders, 43(11), 2526–2535. CrossRefPubMed Lampi, K., Hinkka-Yli-Salomäki, S., Lehti, V., Helenius, H., Gissler, M., Brown, A., & Sourander, A. (2013). Parental age and risk of ASD in a Finnish National Birth Cohort. Journal of Autism and Developmental Disorders, 43(11), 2526–2535. CrossRefPubMed
go back to reference Lampi, K., Sourander, A., & Gissler, M. (2010). Brief report: Validity of Finnish Registry based diagnoses of autism with the ADI-R. Acta pediatrics, 99(9), 1425–1428. CrossRef Lampi, K., Sourander, A., & Gissler, M. (2010). Brief report: Validity of Finnish Registry based diagnoses of autism with the ADI-R. Acta pediatrics, 99(9), 1425–1428. CrossRef
go back to reference Lauritsen, M., Mors, O., Mortensen, P., & Ewald, H. (2002). Medical disorders among inpatients with autism in Denmark according to ICD-8: A Nationwide register-based study. Journal of Autism and Developmental Disorders, 32(2), 115–119. CrossRefPubMed Lauritsen, M., Mors, O., Mortensen, P., & Ewald, H. (2002). Medical disorders among inpatients with autism in Denmark according to ICD-8: A Nationwide register-based study. Journal of Autism and Developmental Disorders, 32(2), 115–119. CrossRefPubMed
go back to reference Lehti, V., Hinkka-Yli-Salomäki, S., Cheslack-Postava, K., Gissler, M., Brown, A. S., & Sourander, A. (2015). Maternal socio-economic status based on occupation and autism spectrum disorders: A national case-control study. Nordic Journal of Psychiatry, 3, 1–8. CrossRef Lehti, V., Hinkka-Yli-Salomäki, S., Cheslack-Postava, K., Gissler, M., Brown, A. S., & Sourander, A. (2015). Maternal socio-economic status based on occupation and autism spectrum disorders: A national case-control study. Nordic Journal of Psychiatry, 3, 1–8. CrossRef
go back to reference Links, P. (1980). Minor physical anomalies in childhood autism. Part II. Their relationship to maternal age. Journal of Autism and Developmental Disorders, 10(3), 287–292. CrossRefPubMed Links, P. (1980). Minor physical anomalies in childhood autism. Part II. Their relationship to maternal age. Journal of Autism and Developmental Disorders, 10(3), 287–292. CrossRefPubMed
go back to reference Links, P., Stockwell, M., Abichandani, F., & Simeon, J. (1980). Minor physical anomalies in childhood autism. Part I. Their relationship to pre-and perinatal complications. Journal of Autism and Developmental Disorders, 10(1), 273–285. CrossRefPubMed Links, P., Stockwell, M., Abichandani, F., & Simeon, J. (1980). Minor physical anomalies in childhood autism. Part I. Their relationship to pre-and perinatal complications. Journal of Autism and Developmental Disorders, 10(1), 273–285. CrossRefPubMed
go back to reference Mann, J. R., McDermott, S., Bao, H., Hardin, J., & Gregg, A. (2010). Pre-eclampsia, birth weight and autism spectrum disorders. Journal of Autism and Developmental Disorders, 40(5), 548–554. CrossRefPubMed Mann, J. R., McDermott, S., Bao, H., Hardin, J., & Gregg, A. (2010). Pre-eclampsia, birth weight and autism spectrum disorders. Journal of Autism and Developmental Disorders, 40(5), 548–554. CrossRefPubMed
go back to reference McBride, K. L., Varqa, E. A., Pastore, M. T., Prior, T. W., Maricham, K., Athin, J. F., & Herman, G. E. (2010). Confirmation study of PTEN mutations among individuals with autism or developmental disability/mental retardation and macrocephaly. Autism Research, 3(3), 137–141. CrossRefPubMed McBride, K. L., Varqa, E. A., Pastore, M. T., Prior, T. W., Maricham, K., Athin, J. F., & Herman, G. E. (2010). Confirmation study of PTEN mutations among individuals with autism or developmental disability/mental retardation and macrocephaly. Autism Research, 3(3), 137–141. CrossRefPubMed
go back to reference Miller, M., Strömland, K., Ventura, L., Johansson, M., Bandim, J. M., & Gillberg, C. (2004). Autism with ophthalmic malformations: The plot thickens. Transactions of the American Ophthalmological Society, 102, 107–120. PubMedCentralPubMed Miller, M., Strömland, K., Ventura, L., Johansson, M., Bandim, J. M., & Gillberg, C. (2004). Autism with ophthalmic malformations: The plot thickens. Transactions of the American Ophthalmological Society, 102, 107–120. PubMedCentralPubMed
go back to reference Miller, M., Strömland, K., Ventura, L., Johansson, M., Bandim, J., & Gillberg, C. (2005). Autism associated with conditions characterized by developmental errors in early embryogenesis: a mini review. International Journal of Developmental Neuroscience, 23(2–3), 201–219. CrossRefPubMed Miller, M., Strömland, K., Ventura, L., Johansson, M., Bandim, J., & Gillberg, C. (2005). Autism associated with conditions characterized by developmental errors in early embryogenesis: a mini review. International Journal of Developmental Neuroscience, 23(2–3), 201–219. CrossRefPubMed
go back to reference Muhle, R., Trentacoste, S. V., & Rapin, I. (2004). The genetics of Autism. Pediatrics, 113(5), 472–486. CrossRef Muhle, R., Trentacoste, S. V., & Rapin, I. (2004). The genetics of Autism. Pediatrics, 113(5), 472–486. CrossRef
go back to reference Rodier, P. M., Bryson, S. E., & Welch, J. P. (1997). Minor malformations and physical measurements in autism: Data from Nova Scotia. Teratology, 55(5), 319–325. CrossRefPubMed Rodier, P. M., Bryson, S. E., & Welch, J. P. (1997). Minor malformations and physical measurements in autism: Data from Nova Scotia. Teratology, 55(5), 319–325. CrossRefPubMed
go back to reference Sankilampi, U., Hannila, M. L., Saari, A., Gissler, M., & Dunkel, L. (2013). New population-based references for birth-weight, length and head circumference in singletons and twins for 23–43 gestation weeks. Annals of Medicine, 45(5–6), 1446–1454. Sankilampi, U., Hannila, M. L., Saari, A., Gissler, M., & Dunkel, L. (2013). New population-based references for birth-weight, length and head circumference in singletons and twins for 23–43 gestation weeks. Annals of Medicine, 45(5–6), 1446–1454.
go back to reference Schendel, D. E., Autry, A., Wines, R., & Moore, C. (2009). The co-occurrence of autism and birth defects. Developmental Medicine and Child Neurology, 51(10), 779–786. CrossRefPubMed Schendel, D. E., Autry, A., Wines, R., & Moore, C. (2009). The co-occurrence of autism and birth defects. Developmental Medicine and Child Neurology, 51(10), 779–786. CrossRefPubMed
go back to reference Strömland, K., Nordin, V., Miller, M., Akerström, B., & Gillberg, C. (1994). Autism in thalidomide embryopathy: A population study. Developmental Medicine and Child Neurology, 36(4), 351–356. CrossRefPubMed Strömland, K., Nordin, V., Miller, M., Akerström, B., & Gillberg, C. (1994). Autism in thalidomide embryopathy: A population study. Developmental Medicine and Child Neurology, 36(4), 351–356. CrossRefPubMed
go back to reference Sund, R. (2012). Quality of the Finnish Hospital discharge register: A systematic review. Scandinavian Journal of Public Health, 40(6), 505–515. CrossRefPubMed Sund, R. (2012). Quality of the Finnish Hospital discharge register: A systematic review. Scandinavian Journal of Public Health, 40(6), 505–515. CrossRefPubMed
go back to reference Timonen-Soivio, L., Vanhala, R., Malm, H., Gissler, M., Hinkka-Yli-Salomäki, S., Leivonen, S., et al. (2015). The association of congenital anomalies and autism spectrum disorders in a Finnish Birth Cohort. Developmental Medicine and Child Neurology, 57(1), 75–80. CrossRefPubMed Timonen-Soivio, L., Vanhala, R., Malm, H., Gissler, M., Hinkka-Yli-Salomäki, S., Leivonen, S., et al. (2015). The association of congenital anomalies and autism spectrum disorders in a Finnish Birth Cohort. Developmental Medicine and Child Neurology, 57(1), 75–80. CrossRefPubMed
go back to reference Tripi, G., Roux, S., Canziani, T., Brilhault, F., Barthelemy, C., & Canziani, F. (2007). Minor physical anomalies in children with autism spectrum disorder. Early Human Development, 84(4), 217–223. CrossRefPubMed Tripi, G., Roux, S., Canziani, T., Brilhault, F., Barthelemy, C., & Canziani, F. (2007). Minor physical anomalies in children with autism spectrum disorder. Early Human Development, 84(4), 217–223. CrossRefPubMed
go back to reference Varqa, E. A., Pastore, M., Prior, T. W., Herman, G. E., & McBride, K. L. (2009). The prevalence of PTEN mutation in a clinical pediatric cohort with autism spectrum disorders, developmental disability and macrocephaly. Genetics in Medicine, 11(2), 111–117. CrossRef Varqa, E. A., Pastore, M., Prior, T. W., Herman, G. E., & McBride, K. L. (2009). The prevalence of PTEN mutation in a clinical pediatric cohort with autism spectrum disorders, developmental disability and macrocephaly. Genetics in Medicine, 11(2), 111–117. CrossRef
go back to reference Waddington, J. L., Lane, A., Larkin, C., & O’Callaghan, E. (1999). The neurodevelopmental basis of schizophrenia: clinical clues from cerebro-craniofacial dysmorphogenesis, and the roots of a lifetime trajectory of disease. Biological Psychiatry, 46, 31–39. CrossRefPubMed Waddington, J. L., Lane, A., Larkin, C., & O’Callaghan, E. (1999). The neurodevelopmental basis of schizophrenia: clinical clues from cerebro-craniofacial dysmorphogenesis, and the roots of a lifetime trajectory of disease. Biological Psychiatry, 46, 31–39. CrossRefPubMed
go back to reference Walker, H. (1977). Incidence of minor physical anomaly in autism. Journal of Autism and Childhood Schizophrenia, 7(2), 165–176. CrossRefPubMed Walker, H. (1977). Incidence of minor physical anomaly in autism. Journal of Autism and Childhood Schizophrenia, 7(2), 165–176. CrossRefPubMed
go back to reference Wier, M., Yoshida, C., Odouli, R., Grether, J., & Croen, L. (2006). Congenital anomalies associated with autism spectrum disorders. Developmental Medicine and Child Neurology, 48, 500–507. CrossRefPubMed Wier, M., Yoshida, C., Odouli, R., Grether, J., & Croen, L. (2006). Congenital anomalies associated with autism spectrum disorders. Developmental Medicine and Child Neurology, 48, 500–507. CrossRefPubMed
go back to reference Williams, G., King, J., Cunningham, M., Stephen, M., Kerr, B., & Hersh, J. H. (2001). Fetal valproate syndrome and autism: Additional evidence of association. Developmental Medicine and Child Neurology, 43(3), 202–206. CrossRefPubMed Williams, G., King, J., Cunningham, M., Stephen, M., Kerr, B., & Hersh, J. H. (2001). Fetal valproate syndrome and autism: Additional evidence of association. Developmental Medicine and Child Neurology, 43(3), 202–206. CrossRefPubMed
go back to reference World Health Organization (WHO). (1977). International classification of diseases—Ninth Revision (ICD-9). Geneva: Switzerland. World Health Organization (WHO). (1977). International classification of diseases—Ninth Revision (ICD-9). Geneva: Switzerland.
go back to reference World Health Organization (WHO). (1992). International classification of diseases—Tenth Revision (ICD-10). Geneva: Switzerland. World Health Organization (WHO). (1992). International classification of diseases—Tenth Revision (ICD-10). Geneva: Switzerland.
Metagegevens
Titel
The Association Between Autism Spectrum Disorders and Congenital Anomalies by Organ Systems in a Finnish National Birth Cohort
Auteurs
Laura Timonen-Soivio
Andre Sourander
Heli Malm
Susanna Hinkka-Yli-Salomäki
Mika Gissler
Alan Brown
Raija Vanhala
Publicatiedatum
03-06-2015
Uitgeverij
Springer US
Gepubliceerd in
Journal of Autism and Developmental Disorders / Uitgave 10/2015
Print ISSN: 0162-3257
Elektronisch ISSN: 1573-3432
DOI
https://doi.org/10.1007/s10803-015-2477-7