Skip to main content
main-content
Top

Tip

Swipe om te navigeren naar een ander artikel

Gepubliceerd in: Journal of Autism and Developmental Disorders 5/2019

19-02-2019 | OriginalPaper

A Novel Approach to Dysmorphology to Enhance the Phenotypic Classification of Autism Spectrum Disorder in the Study to Explore Early Development

Auteurs: Stuart K. Shapira, Lin H. Tian, Arthur S. Aylsworth, Ellen R. Elias, Julie E. Hoover-Fong, Naomi J. L. Meeks, Margaret C. Souders, Anne C.-H. Tsai, Elaine H. Zackai, Aimee A. Alexander, Marshalyn Yeargin-Allsopp, Laura A. Schieve

Gepubliceerd in: Journal of Autism and Developmental Disorders | Uitgave 5/2019

Log in om toegang te krijgen
share
DELEN

Deel dit onderdeel of sectie (kopieer de link)

  • Optie A:
    Klik op de rechtermuisknop op de link en selecteer de optie “linkadres kopiëren”
  • Optie B:
    Deel de link per e-mail

Abstract

The presence of multiple dysmorphic features in some children with autism spectrum disorder (ASD) might identify distinct ASD phenotypes and serve as potential markers for understanding causes and prognoses. To evaluate dysmorphology in ASD, children aged 3–6 years with ASD and non-ASD population controls (POP) from the Study to Explore Early Development were evaluated using a novel, systematic dysmorphology review approach. Separate analyses were conducted for non-Hispanic White, non-Hispanic Black, and Hispanic children. In each racial/ethnic group, ~ 17% of ASD cases were Dysmorphic compared with ~ 5% of POP controls. The ASD–POP differential was not explained by known genetic disorders or birth defects. In future epidemiologic studies, subgrouping ASD cases as Dysmorphic vs. Non-dysmorphic might help delineate risk factors for ASD.
Literatuur
go back to reference Aase, J. M. (1990). The physical examination in dysmorphology. In J. M Aase (Ed.), Diagnostic dysmorphology (pp. 33–42). New York: Plenum Medical Book Co. Aase, J. M. (1990). The physical examination in dysmorphology. In J. M Aase (Ed.), Diagnostic dysmorphology (pp. 33–42). New York: Plenum Medical Book Co.
go back to reference Abrahams, B. S., & Geschwind, D. H. (2008). Advances in autism genetics: On the threshold of a new neurobiology. Nature Reviews Genetics, 9(5), 341–355. CrossRefPubMedPubMedCentral Abrahams, B. S., & Geschwind, D. H. (2008). Advances in autism genetics: On the threshold of a new neurobiology. Nature Reviews Genetics, 9(5), 341–355. CrossRefPubMedPubMedCentral
go back to reference Allanson, J. E. (1989). Time and natural history: The changing face. Journal of Craniofacial Genetics and Developmental Biology, 9(1), 21–28. PubMed Allanson, J. E. (1989). Time and natural history: The changing face. Journal of Craniofacial Genetics and Developmental Biology, 9(1), 21–28. PubMed
go back to reference Allanson, J. E., Cunniff, C., Hoyme, H. E., McGaughran, J., Muenke, M., & Neri, G. (2009). Elements of morphology: Standard terminology for the head and face. American Journal of Medical Genetics Part A, 149A(1), 6–28. CrossRefPubMedPubMedCentral Allanson, J. E., Cunniff, C., Hoyme, H. E., McGaughran, J., Muenke, M., & Neri, G. (2009). Elements of morphology: Standard terminology for the head and face. American Journal of Medical Genetics Part A, 149A(1), 6–28. CrossRefPubMedPubMedCentral
go back to reference American Psychiatric Association. (2013). Diagnostic and statistical manual of mental disorders (5th ed.). Arlington: American Psychiatric Publishing. CrossRef American Psychiatric Association. (2013). Diagnostic and statistical manual of mental disorders (5th ed.). Arlington: American Psychiatric Publishing. CrossRef
go back to reference Amiet, C., Gourfinkel-An, I., Bouzamondo, A., Tordjman, S., Baulac, M., Lechat, P., … Cohen, D. (2008). Epilepsy in autism is associated with intellectual disability and gender: Evidence from a meta-analysis. Biological Psychiatry, 64, 577–582. CrossRefPubMed Amiet, C., Gourfinkel-An, I., Bouzamondo, A., Tordjman, S., Baulac, M., Lechat, P., … Cohen, D. (2008). Epilepsy in autism is associated with intellectual disability and gender: Evidence from a meta-analysis. Biological Psychiatry, 64, 577–582. CrossRefPubMed
go back to reference Angkustsiri, K., Krakowiak, P., Moghaddam, B., Wardinsky, T., Gardner, J., Kalamkarian, N., … Hansen, R. L. (2011). Minor physical anomalies in children with autism spectrum disorders. Autism, 15(6), 746–760. CrossRefPubMedPubMedCentral Angkustsiri, K., Krakowiak, P., Moghaddam, B., Wardinsky, T., Gardner, J., Kalamkarian, N., … Hansen, R. L. (2011). Minor physical anomalies in children with autism spectrum disorders. Autism, 15(6), 746–760. CrossRefPubMedPubMedCentral
go back to reference Baio, J., Wiggins, L., Christensen, D. L., Maenner, M. J., Daniels, J., Warren, Z., … Dowling, N. F. (2018). Prevalence of autism spectrum disorder among children aged 8 years—Autism and Developmental Disabilities Monitoring Network. Morbidity and Mortality Weekly Report Surveillance Summaries, 67(6), 1–23. PubMedPubMedCentral Baio, J., Wiggins, L., Christensen, D. L., Maenner, M. J., Daniels, J., Warren, Z., … Dowling, N. F. (2018). Prevalence of autism spectrum disorder among children aged 8 years—Autism and Developmental Disabilities Monitoring Network. Morbidity and Mortality Weekly Report Surveillance Summaries, 67(6), 1–23. PubMedPubMedCentral
go back to reference Biesecker, L. G., Aase, J. M., Clericuzio, C., Gurrieri, F., Temple, I. K., & Toriello, H. (2009). Elements of morphology: Standard terminology for the hands and feet. American Journal of Medical Genetics Part A, 149A(1), 93–127. CrossRefPubMedPubMedCentral Biesecker, L. G., Aase, J. M., Clericuzio, C., Gurrieri, F., Temple, I. K., & Toriello, H. (2009). Elements of morphology: Standard terminology for the hands and feet. American Journal of Medical Genetics Part A, 149A(1), 93–127. CrossRefPubMedPubMedCentral
go back to reference Bill, B. R., & Geschwind, D. H. (2009). Genetic advances in autism: Heterogeneity and convergence on shared pathways. Current Opinion in Genetics & Development, 19(3), 271–278. CrossRef Bill, B. R., & Geschwind, D. H. (2009). Genetic advances in autism: Heterogeneity and convergence on shared pathways. Current Opinion in Genetics & Development, 19(3), 271–278. CrossRef
go back to reference Braddock, S. R., Henley, K. M., & Maria, B. L. (2007). The face of Joubert syndrome: A study of dysmorphology and anthropometry. American Journal of Medical Genetics Part A, 143A(24), 3235–3242. CrossRefPubMed Braddock, S. R., Henley, K. M., & Maria, B. L. (2007). The face of Joubert syndrome: A study of dysmorphology and anthropometry. American Journal of Medical Genetics Part A, 143A(24), 3235–3242. CrossRefPubMed
go back to reference Bradley, C. B., Browne, E. N., Alexander, A. A., Collins, J., Dahm, J. L., DiGuiseppi, C. G., … Daniels, J. L. (2018). Demographic and operational factors predicting study completion in a multisite case-control study of preschool children. American Journal of Epidemiology, 187(3), 592–603. CrossRefPubMedPubMedCentral Bradley, C. B., Browne, E. N., Alexander, A. A., Collins, J., Dahm, J. L., DiGuiseppi, C. G., … Daniels, J. L. (2018). Demographic and operational factors predicting study completion in a multisite case-control study of preschool children. American Journal of Epidemiology, 187(3), 592–603. CrossRefPubMedPubMedCentral
go back to reference Bushby, K. M., Cole, T., Matthews, J. N., & Goodship, J. A. (1992). Centiles for adult head circumference. Archives of Disease in Childhood, 67(10), 1286–1287. CrossRefPubMedPubMedCentral Bushby, K. M., Cole, T., Matthews, J. N., & Goodship, J. A. (1992). Centiles for adult head circumference. Archives of Disease in Childhood, 67(10), 1286–1287. CrossRefPubMedPubMedCentral
go back to reference Campbell, M., Geller, B., Small, A. M., Petti, T. A., & Ferris, S. H. (1978). Minor physical anomalies in young psychotic children. American Journal of Psychiatry, 135(5), 573–575. CrossRefPubMed Campbell, M., Geller, B., Small, A. M., Petti, T. A., & Ferris, S. H. (1978). Minor physical anomalies in young psychotic children. American Journal of Psychiatry, 135(5), 573–575. CrossRefPubMed
go back to reference Carey, J. C., Cohen, M. M. Jr., Curry, C. J. R., Devriendt, K., Holmes, L. B., & Verloes, A. (2009). Elements of morphology: Standard terminology for the lips, mouth, and oral region. American Journal of Medical Genetics Part A, 149A(1), 77–92. CrossRefPubMed Carey, J. C., Cohen, M. M. Jr., Curry, C. J. R., Devriendt, K., Holmes, L. B., & Verloes, A. (2009). Elements of morphology: Standard terminology for the lips, mouth, and oral region. American Journal of Medical Genetics Part A, 149A(1), 77–92. CrossRefPubMed
go back to reference Centers for Disease Control and Prevention. (2008). Update on overall prevalence of major birth defects—Atlanta, Georgia, 1978–2005. Morbidity and Mortality Weekly Report, 57(1), 1–5. Centers for Disease Control and Prevention. (2008). Update on overall prevalence of major birth defects—Atlanta, Georgia, 1978–2005. Morbidity and Mortality Weekly Report, 57(1), 1–5.
go back to reference Cole, T. R., & Hughes, H. E. (1994). Sotos syndrome: A study of the diagnostic criteria and natural history. Journal of Medical Genetics, 31(1), 20–32. CrossRefPubMedPubMedCentral Cole, T. R., & Hughes, H. E. (1994). Sotos syndrome: A study of the diagnostic criteria and natural history. Journal of Medical Genetics, 31(1), 20–32. CrossRefPubMedPubMedCentral
go back to reference Cung, W., Freedman, L. A., Khan, N. E., Romberg, E., Gardner, P. J., Bassim, C. W., … Stewart, D. R. (2015). Cephalometry in adults and children with neurofibromatosis type 1: Implications for the pathogenesis of sphenoid wing dysplasia and the “NF1 facies”. European Journal of Medical Genetics, 58(11), 584–590. CrossRefPubMedPubMedCentral Cung, W., Freedman, L. A., Khan, N. E., Romberg, E., Gardner, P. J., Bassim, C. W., … Stewart, D. R. (2015). Cephalometry in adults and children with neurofibromatosis type 1: Implications for the pathogenesis of sphenoid wing dysplasia and the “NF1 facies”. European Journal of Medical Genetics, 58(11), 584–590. CrossRefPubMedPubMedCentral
go back to reference DiGuiseppi, C. G., Daniels, J. L., Fallin, D. M., Rosenberg, S. A., Schieve, L. A., Thomas, K. C., … Schendel, D. E. (2016). Demographic profile of families and children in the Study to Explore Early Development (SEED): Case-control study of autism spectrum disorder. Disability and Health Journal, 9(3), 544–551. CrossRefPubMedPubMedCentral DiGuiseppi, C. G., Daniels, J. L., Fallin, D. M., Rosenberg, S. A., Schieve, L. A., Thomas, K. C., … Schendel, D. E. (2016). Demographic profile of families and children in the Study to Explore Early Development (SEED): Case-control study of autism spectrum disorder. Disability and Health Journal, 9(3), 544–551. CrossRefPubMedPubMedCentral
go back to reference Duvekot, J., van der Ende, J., Verhulst, F. C., Slappendel, G., van Daalen, E., Maras, A., & Greaves-Lord, K. (2017). Factors influencing the probability of a diagnosis of autism spectrum disorder in girls versus boys. Autism, 21(6), 646–658. CrossRefPubMed Duvekot, J., van der Ende, J., Verhulst, F. C., Slappendel, G., van Daalen, E., Maras, A., & Greaves-Lord, K. (2017). Factors influencing the probability of a diagnosis of autism spectrum disorder in girls versus boys. Autism, 21(6), 646–658. CrossRefPubMed
go back to reference Eaves, L. C., & Ho, H. H. (2008). Young adult outcome of autism spectrum disorders. Journal of Autism and Developmental Disorders, 38, 739–747. CrossRefPubMed Eaves, L. C., & Ho, H. H. (2008). Young adult outcome of autism spectrum disorders. Journal of Autism and Developmental Disorders, 38, 739–747. CrossRefPubMed
go back to reference Egbe, A. C. (2015). Birth defects in the newborn population: Race and ethnicity. Pediatric Neonatology, 56(3), 183–188. CrossRef Egbe, A. C. (2015). Birth defects in the newborn population: Race and ethnicity. Pediatric Neonatology, 56(3), 183–188. CrossRef
go back to reference Feingold, M., & Bossert, W. H. (1974). Normal values for selected physical parameters: An aid to syndrome delineation. Birth Defects: Original Articles Series, 10(13), 1–16. Feingold, M., & Bossert, W. H. (1974). Normal values for selected physical parameters: An aid to syndrome delineation. Birth Defects: Original Articles Series, 10(13), 1–16.
go back to reference Flor, J., Bellando, J., Lopez, M., & Shul, A. (2017). Developmental functioning and medical co-morbidity profile of children with complex and essential autism. Autism Research, 10(8), 1344–1352. CrossRefPubMed Flor, J., Bellando, J., Lopez, M., & Shul, A. (2017). Developmental functioning and medical co-morbidity profile of children with complex and essential autism. Autism Research, 10(8), 1344–1352. CrossRefPubMed
go back to reference Goldfarb, W., & Botstein, A. (1956). Physical stigmata in schizophrenic children. Unpublished manuscript. Brooklyn, NY: Henry Ittleson Center for Child Research. Goldfarb, W., & Botstein, A. (1956). Physical stigmata in schizophrenic children. Unpublished manuscript. Brooklyn, NY: Henry Ittleson Center for Child Research.
go back to reference Gualtieri, C. T., Adams, A., Shen, C. D., & Loiselle, D. (1982). Minor physical anomalies in alcoholic and schizophrenic adults with hyperactive and autistic children. American Journal of Psychiatry, 139(5), 640–643. CrossRefPubMed Gualtieri, C. T., Adams, A., Shen, C. D., & Loiselle, D. (1982). Minor physical anomalies in alcoholic and schizophrenic adults with hyperactive and autistic children. American Journal of Psychiatry, 139(5), 640–643. CrossRefPubMed
go back to reference Hall, B. D., Graham, J. M. Jr., Cassidy, S. B., & Opitz, J. M. (2009). Elements of morphology: Standard terminology for the periorbital region. American Journal of Medical Genetics Part A, 149A(1), 29–39. CrossRefPubMed Hall, B. D., Graham, J. M. Jr., Cassidy, S. B., & Opitz, J. M. (2009). Elements of morphology: Standard terminology for the periorbital region. American Journal of Medical Genetics Part A, 149A(1), 29–39. CrossRefPubMed
go back to reference Hennekam, R. C., Biesecker, L. G., Allanson, L. G., Hall, J. G., Opitz, J. M., Temple, I. K. … Elements of Morphology Consortium. (2013). Elements of morphology: General terms for congenital anomalies. American Journal of Medical Genetics Part A. 161A(11), 2726–2733. CrossRefPubMed Hennekam, R. C., Biesecker, L. G., Allanson, L. G., Hall, J. G., Opitz, J. M., Temple, I. K. … Elements of Morphology Consortium. (2013). Elements of morphology: General terms for congenital anomalies. American Journal of Medical Genetics Part A. 161A(11), 2726–2733. CrossRefPubMed
go back to reference Hennekam, R. C., Cormier-Daire, V., Hall, J. G., Mèhes, K., Patton, M., & Stevenson, R. E. (2009). Elements of morphology: Standard terminology for the nose and philtrum. American Journal of Medical Genetics Part A, 149A(1), 61–76. CrossRefPubMed Hennekam, R. C., Cormier-Daire, V., Hall, J. G., Mèhes, K., Patton, M., & Stevenson, R. E. (2009). Elements of morphology: Standard terminology for the nose and philtrum. American Journal of Medical Genetics Part A, 149A(1), 61–76. CrossRefPubMed
go back to reference Hook, E. B. (1971). Some general considerations concerning monitoring: Application to utility of minor defects as markers. In E. B. Hook. D. T. Janerich. I. H. Porter (Eds.), Monitoring, birth defects, and environment (pp. 177–197). New York: Academic Press. Hook, E. B. (1971). Some general considerations concerning monitoring: Application to utility of minor defects as markers. In E. B. Hook. D. T. Janerich. I. H. Porter (Eds.), Monitoring, birth defects, and environment (pp. 177–197). New York: Academic Press.
go back to reference Howden, L. M., & Meyer, J. A. (2011). Age and sex composition: 2010. 2010 census briefs. Washington, DC: U.S. Department of Commerce, Economics and Statistics Administration, U.S. Census Bureau. Howden, L. M., & Meyer, J. A. (2011). Age and sex composition: 2010. 2010 census briefs. Washington, DC: U.S. Department of Commerce, Economics and Statistics Administration, U.S. Census Bureau.
go back to reference Hunter, A., Frias, J. L., Gillesen-Kaesbach, G., Hughes, H., Jones, K. L., & Wilson, L. (2009). Elements of morphology: Standard terminology for the ear. American Journal of Medical Genetics Part A, 149A(1), 40–60. CrossRefPubMed Hunter, A., Frias, J. L., Gillesen-Kaesbach, G., Hughes, H., Jones, K. L., & Wilson, L. (2009). Elements of morphology: Standard terminology for the ear. American Journal of Medical Genetics Part A, 149A(1), 40–60. CrossRefPubMed
go back to reference Karimi, P., Kamali, E., Mousavi, S. M., & Karahmadi, M. (2017). Environmental factors influencing the risk of autism. Journal of Research in Medical Sciences, 22, 27. CrossRefPubMedPubMedCentral Karimi, P., Kamali, E., Mousavi, S. M., & Karahmadi, M. (2017). Environmental factors influencing the risk of autism. Journal of Research in Medical Sciences, 22, 27. CrossRefPubMedPubMedCentral
go back to reference Leppig, K. A., Werler, M. M., Cann, C. I., Cook, C. A., & Holmes, L. B. (1987). Predictive value of minor anomalies. I. Association with major malformations. Journal of Pediatrics, 110(4), 531–537. CrossRefPubMed Leppig, K. A., Werler, M. M., Cann, C. I., Cook, C. A., & Holmes, L. B. (1987). Predictive value of minor anomalies. I. Association with major malformations. Journal of Pediatrics, 110(4), 531–537. CrossRefPubMed
go back to reference Links, P. S. (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. S. (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. S., 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(3), 273–285. CrossRefPubMed Links, P. S., 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(3), 273–285. CrossRefPubMed
go back to reference Little, R. J. A., & Rubin, D. B. (1987). Statistical analysis with missing data (p. 278). New York: Wiley. Little, R. J. A., & Rubin, D. B. (1987). Statistical analysis with missing data (p. 278). New York: Wiley.
go back to reference Liu, Y., & De, A. (2015). Multiple imputation by fully conditional specification for dealing with missing data in a large epidemiologic study. International Journal of Statistics in Medical Research, 4(3), 287–295. CrossRefPubMedPubMedCentral Liu, Y., & De, A. (2015). Multiple imputation by fully conditional specification for dealing with missing data in a large epidemiologic study. International Journal of Statistics in Medical Research, 4(3), 287–295. CrossRefPubMedPubMedCentral
go back to reference Marden, P. M., Smith, D. W., & McDonald, M. J. (1964). Congenital anomalies in the newborn infant, including minor variations. Journal of Pediatrics, 64, 357–371. CrossRefPubMed Marden, P. M., Smith, D. W., & McDonald, M. J. (1964). Congenital anomalies in the newborn infant, including minor variations. Journal of Pediatrics, 64, 357–371. CrossRefPubMed
go back to reference Méhes, K. (1983). General characterization of minor malformations: Epidemiology in the newborn populations. In K. Méhes (Ed.), Minor malformations in the neonate (pp. 17–20). Budapest: Akadémiai Kiadó. Méhes, K. (1983). General characterization of minor malformations: Epidemiology in the newborn populations. In K. Méhes (Ed.), Minor malformations in the neonate (pp. 17–20). Budapest: Akadémiai Kiadó.
go back to reference Merks, J. H., van Karnebeek, C. D., Caron, H. N., & Hennekam, R. C. (2003). Phenotypic abnormalities: Terminology and classification. American Journal of Medical Genetics Part A, 123A(3), 211–230. CrossRefPubMed Merks, J. H., van Karnebeek, C. D., Caron, H. N., & Hennekam, R. C. (2003). Phenotypic abnormalities: Terminology and classification. American Journal of Medical Genetics Part A, 123A(3), 211–230. CrossRefPubMed
go back to reference Merlob, P., Papier, C. M., Klingberg, M. A., & Reisner, S. H. (1985). Incidence of congenital malformations in the newborn, particularly minor abnormalities. Progress in Clinical and Biological Research, 163C, 51–55. PubMed Merlob, P., Papier, C. M., Klingberg, M. A., & Reisner, S. H. (1985). Incidence of congenital malformations in the newborn, particularly minor abnormalities. Progress in Clinical and Biological Research, 163C, 51–55. PubMed
go back to reference Miles, J. H., & Hillman, R. E. (2000). Value of a clinical morphology examination in autism. American Journal of Medical Genetics, 91(4), 245–253. CrossRefPubMed Miles, J. H., & Hillman, R. E. (2000). Value of a clinical morphology examination in autism. American Journal of Medical Genetics, 91(4), 245–253. CrossRefPubMed
go back to reference Miles, J. H., Takahashi, T. N., Bagby, S., Sahota, P. K., Vaslow, D. F., Wang, R. E., … Farmer, J. E. (2005). Essential versus complex autism: Definition of fundamental prognostic subtypes. American Journal of Medical Genetics Part A, 135A(2), 171–180. CrossRef Miles, J. H., Takahashi, T. N., Bagby, S., Sahota, P. K., Vaslow, D. F., Wang, R. E., … Farmer, J. E. (2005). Essential versus complex autism: Definition of fundamental prognostic subtypes. American Journal of Medical Genetics Part A, 135A(2), 171–180. CrossRef
go back to reference Miles, J. H., Takahashi, T. N., Hong, J., Munden, N., Flournoy, N., Braddock, S. R., … Farmer, J. E. (2008). Development and validation of a measure of dysmorphology: Useful for autism subgroup classification. American Journal of Medical Genetics Part A, 146A(9), 1101–1116. CrossRefPubMed Miles, J. H., Takahashi, T. N., Hong, J., Munden, N., Flournoy, N., Braddock, S. R., … Farmer, J. E. (2008). Development and validation of a measure of dysmorphology: Useful for autism subgroup classification. American Journal of Medical Genetics Part A, 146A(9), 1101–1116. CrossRefPubMed
go back to reference Miller, M. T., Strömland, K., Ventura, L., Johansson, M., Bandim, J. M., & 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. T., Strömland, K., Ventura, L., Johansson, M., Bandim, J. M., & 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 Mnukhin, S. S., & Isaev, D. N. (1975). On the organic nature of some forms of schizoid or autistic psychopathy. Journal of Autism and Childhood Schizophrenia, 5(2), 99–108. CrossRefPubMed Mnukhin, S. S., & Isaev, D. N. (1975). On the organic nature of some forms of schizoid or autistic psychopathy. Journal of Autism and Childhood Schizophrenia, 5(2), 99–108. CrossRefPubMed
go back to reference Muhle, R., Trentacoste, S. V., & Rapin, I. (2004). The genetics of autism. Pediatrics, 113(5), e472–e486. CrossRefPubMed Muhle, R., Trentacoste, S. V., & Rapin, I. (2004). The genetics of autism. Pediatrics, 113(5), e472–e486. CrossRefPubMed
go back to reference Raghunathan, T. E., Lepkowski, J. M., Van Hoewyk, J., & Solenberger, P. (2001). A multivariate technique for multiply imputing missing values using a sequence of regression models. Survey Methodology, 27(1), 85–95. Raghunathan, T. E., Lepkowski, J. M., Van Hoewyk, J., & Solenberger, P. (2001). A multivariate technique for multiply imputing missing values using a sequence of regression models. Survey Methodology, 27(1), 85–95.
go back to reference Reich, R., Cloninger, C. R., & Guze, S. B. (1975). The multifactorial model of disease transmission: I. Description of the model and its use in psychiatry. British Journal of Psychiatry, 127, 1–10. CrossRefPubMed Reich, R., Cloninger, C. R., & Guze, S. B. (1975). The multifactorial model of disease transmission: I. Description of the model and its use in psychiatry. British Journal of Psychiatry, 127, 1–10. CrossRefPubMed
go back to reference Robert, C., Pasquier, L., Cohen, D., Fradin, M., Canitano, R., Damaj, L., … Tordjman, S. (2017). Role of genetics in the etiology of autistic spectrum disorder: Towards a hierarchical diagnostic strategy. International Journal of Molecular Sciences. 18(3), e618. CrossRefPubMed Robert, C., Pasquier, L., Cohen, D., Fradin, M., Canitano, R., Damaj, L., … Tordjman, S. (2017). Role of genetics in the etiology of autistic spectrum disorder: Towards a hierarchical diagnostic strategy. International Journal of Molecular Sciences. 18(3), e618. CrossRefPubMed
go back to reference Ronald, A., & Hoekstra, R. A. (2011). Autism spectrum disorders and autistic traits: A decade of new twin studies. American Journal of Medical Genetics Part B, Neuropsychiatric Genetics, 156B(3), 255–274. CrossRef Ronald, A., & Hoekstra, R. A. (2011). Autism spectrum disorders and autistic traits: A decade of new twin studies. American Journal of Medical Genetics Part B, Neuropsychiatric Genetics, 156B(3), 255–274. CrossRef
go back to reference Rosti, R. O., Sadek, A. A., Vaux, K. K., & Gleeson, J. G. (2014). The genetic landscape of autism spectrum disorders. Developmental Medicine & Child Neurology, 56(1), 12–18. CrossRef Rosti, R. O., Sadek, A. A., Vaux, K. K., & Gleeson, J. G. (2014). The genetic landscape of autism spectrum disorders. Developmental Medicine & Child Neurology, 56(1), 12–18. CrossRef
go back to reference Rubin, D. B. (1987). Multiple imputation for nonresponse in surveys (p. 258). New York: Wiley. CrossRef Rubin, D. B. (1987). Multiple imputation for nonresponse in surveys (p. 258). New York: Wiley. CrossRef
go back to reference Sandin, S., Lichtenstein, P., Kuja-Halkola, R., Larsson, H., Hultman, C. M., & Reichenberg, A. (2014). The familial risk of autism. Journal of the American Medical Association, 311(17), 1770–1777. CrossRefPubMed Sandin, S., Lichtenstein, P., Kuja-Halkola, R., Larsson, H., Hultman, C. M., & Reichenberg, A. (2014). The familial risk of autism. Journal of the American Medical Association, 311(17), 1770–1777. CrossRefPubMed
go back to reference Schendel, D. E., Diguiseppi, C., Croen, L. A., Fallin, M. D., Reed, P. L., Schieve, L. A., … Yeargin-Allsopp, M. (2012). The Study to Explore Early Development (SEED): A multisite epidemiologic study of autism by the Centers for Autism and Developmental Disabilities Research and Epidemiology (CADDRE) network. Journal of Autism and Developmental Disorders, 42(10), 2121–2140. CrossRefPubMedPubMedCentral Schendel, D. E., Diguiseppi, C., Croen, L. A., Fallin, M. D., Reed, P. L., Schieve, L. A., … Yeargin-Allsopp, M. (2012). The Study to Explore Early Development (SEED): A multisite epidemiologic study of autism by the Centers for Autism and Developmental Disabilities Research and Epidemiology (CADDRE) network. Journal of Autism and Developmental Disorders, 42(10), 2121–2140. CrossRefPubMedPubMedCentral
go back to reference Steg, J. P., & Rapoport, J. L. (1975). Minor physical anomalies in normal, neurotic, learning disabled, and severely disturbed children. Journal of Autism and Childhood Schizophrenia, 5(4), 299–307. CrossRefPubMed Steg, J. P., & Rapoport, J. L. (1975). Minor physical anomalies in normal, neurotic, learning disabled, and severely disturbed children. Journal of Autism and Childhood Schizophrenia, 5(4), 299–307. CrossRefPubMed
go back to reference Stoelb, M., Yarnal, R., Miles, J., Takahashi, T. N., Farmer, J. E., & McCathren, R. B. (2004). Predicting responsiveness to treatment of children with autism: A retrospective study of the importance of physical dysmorphology. Focus on Autism and Other Developmental Disabilities, 19(2), 66–77. CrossRef Stoelb, M., Yarnal, R., Miles, J., Takahashi, T. N., Farmer, J. E., & McCathren, R. B. (2004). Predicting responsiveness to treatment of children with autism: A retrospective study of the importance of physical dysmorphology. Focus on Autism and Other Developmental Disabilities, 19(2), 66–77. CrossRef
go back to reference Tammimies, K., Marshall, C. R., Walker, S., Kaur, G., Thiruvahindrapuram, B., & Lionel, A. C. (2015). Molecular diagnostic yield of chromosomal microarray analysis and whole-exome sequencing in children with autism spectrum disorder. Journal of the American Medical Association, 314(9), 895–903. CrossRefPubMed Tammimies, K., Marshall, C. R., Walker, S., Kaur, G., Thiruvahindrapuram, B., & Lionel, A. C. (2015). Molecular diagnostic yield of chromosomal microarray analysis and whole-exome sequencing in children with autism spectrum disorder. Journal of the American Medical Association, 314(9), 895–903. CrossRefPubMed
go back to reference Thomas, I. T., Gaitantzis, Y. A., & Frias, J. L. (1987). Palpebral fissure length from 29 weeks gestation to 14 years. Journal of Pediatrics, 111(2), 267–268. CrossRefPubMed Thomas, I. T., Gaitantzis, Y. A., & Frias, J. L. (1987). Palpebral fissure length from 29 weeks gestation to 14 years. Journal of Pediatrics, 111(2), 267–268. CrossRefPubMed
go back to reference Van Buuren, S. (2007). Multiple imputation of discrete and continuous data by fully conditional specification. Statistical Methods in Medical Research, 16(3), 219–242. CrossRefPubMed Van Buuren, S. (2007). Multiple imputation of discrete and continuous data by fully conditional specification. Statistical Methods in Medical Research, 16(3), 219–242. CrossRefPubMed
go back to reference Waldrop, M. F., Pederson, F. A., & Bell, R. Q. (1968). Minor physical anomalies and behavior in preschool children. Child Development, 39(2), 391–400. CrossRefPubMed Waldrop, M. F., Pederson, F. A., & Bell, R. Q. (1968). Minor physical anomalies and behavior in preschool children. Child Development, 39(2), 391–400. CrossRefPubMed
go back to reference Walker, H. A. (1977). Incidence of minor physical anomaly in autism. Journal of Autism and Childhood Schizophrenia, 7(4), 165–176. CrossRefPubMed Walker, H. A. (1977). Incidence of minor physical anomaly in autism. Journal of Autism and Childhood Schizophrenia, 7(4), 165–176. CrossRefPubMed
go back to reference Werling, D. M., & Geschwind, D. H. (2013). Understanding sex bias in autism spectrum disorder. Proceedings of the National Academy of Sciences of the United States of America, 110(13), 4868–4869. CrossRefPubMedPubMedCentral Werling, D. M., & Geschwind, D. H. (2013). Understanding sex bias in autism spectrum disorder. Proceedings of the National Academy of Sciences of the United States of America, 110(13), 4868–4869. CrossRefPubMedPubMedCentral
go back to reference Wong, V. C. N., Fung, C. K. Y., & Wong, P. T. Y. (2014). Use of dysmorphology for subgroup classification on autism spectrum disorder in Chinese children. Journal of Autism and Developmental Disorders, 44(1), 9–18. CrossRefPubMed Wong, V. C. N., Fung, C. K. Y., & Wong, P. T. Y. (2014). Use of dysmorphology for subgroup classification on autism spectrum disorder in Chinese children. Journal of Autism and Developmental Disorders, 44(1), 9–18. CrossRefPubMed
go back to reference Yuan, Y. C. (2000). Multiple imputation for missing data: Concepts and new developments, SAS technical report no. P267-25 (p. 11). Rockville, MD: SAS Institute, Inc. Yuan, Y. C. (2000). Multiple imputation for missing data: Concepts and new developments, SAS technical report no. P267-25 (p. 11). Rockville, MD: SAS Institute, Inc.
go back to reference Zachariah, S. M., Oomen, S. P., Padankatti, C. S., Grace, H., & Glory, L. (2017). Dysmorphism in non-syndromic autism: A cross-sectional study. Indian Pediatrics, 54(7), 560–562. CrossRefPubMed Zachariah, S. M., Oomen, S. P., Padankatti, C. S., Grace, H., & Glory, L. (2017). Dysmorphism in non-syndromic autism: A cross-sectional study. Indian Pediatrics, 54(7), 560–562. CrossRefPubMed
go back to reference Zankl, A., & Molinari, L. (2003). Abase—A tool for the rapid assessment of anthropometric measurements on handheld computers. American Journal of Medical Genetics Part A, 121A(2), 146–150. CrossRefPubMed Zankl, A., & Molinari, L. (2003). Abase—A tool for the rapid assessment of anthropometric measurements on handheld computers. American Journal of Medical Genetics Part A, 121A(2), 146–150. CrossRefPubMed
Metagegevens
Titel
A Novel Approach to Dysmorphology to Enhance the Phenotypic Classification of Autism Spectrum Disorder in the Study to Explore Early Development
Auteurs
Stuart K. Shapira
Lin H. Tian
Arthur S. Aylsworth
Ellen R. Elias
Julie E. Hoover-Fong
Naomi J. L. Meeks
Margaret C. Souders
Anne C.-H. Tsai
Elaine H. Zackai
Aimee A. Alexander
Marshalyn Yeargin-Allsopp
Laura A. Schieve
Publicatiedatum
19-02-2019
Uitgeverij
Springer US
Gepubliceerd in
Journal of Autism and Developmental Disorders / Uitgave 5/2019
Print ISSN: 0162-3257
Elektronisch ISSN: 1573-3432
DOI
https://doi.org/10.1007/s10803-019-03899-0