Skip to main content
Top
Gepubliceerd in: Journal of Autism and Developmental Disorders 5/2021

07-08-2020 | Original Paper

Identification of Essential, Equivocal and Complex Autism by the Autism Dysmorphology Measure: An Observational Study

Auteurs: Sharmila B. Mukherjee, Neelam, Seema Kapoor, Suvasini Sharma

Gepubliceerd in: Journal of Autism and Developmental Disorders | Uitgave 5/2021

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 Autism Dysmorphology Measure is designed for non-expert clinicians. It uses an algorithm to assess 12 body regions and categorizes Autism on the number of dysmorphic regions identified; Essential (≤ 3), Equivocal (4–5) or Complex (≥ 6). We evaluated 200 Indian children with Autism (mean age 3.7 years) in a hospital-based cross-sectional study and compared inter-group profiles. We found 31% Essential, 49% Equivocal and 20% Complex Autism. On comparing results with existing literature, it appeared that genetic ancestry and age significantly influenced dysmorphism and hence categorization. No significant differences were observed between complex and essential autism in epilepsy, severity of autism or development, as reported earlier. These shortcomings make the present tool unsuitable for use in young Indian children with Autism.
Bijlagen
Alleen toegankelijk voor geautoriseerde gebruikers
Literatuur
go back to reference American Psychiatry Association (APA). (2013). Autism spectrum Disorder. In Diagnostic and Statistical Manual of Mental Disorders, 5th ed. Washington, DC: APA. American Psychiatry Association (APA). (2013). Autism spectrum Disorder. In Diagnostic and Statistical Manual of Mental Disorders, 5th ed. Washington, DC: APA.
go back to reference Angkustsiri, K., Krakowiak, P., Moghaddam, B., Wardinsky, T., Gardner, J., Kalamkarian, N., et al. (2011). Minor physical anomalies in children with autism spectrum disorders. Autism, 15(6), 746–760.PubMedPubMedCentral Angkustsiri, K., Krakowiak, P., Moghaddam, B., Wardinsky, T., Gardner, J., Kalamkarian, N., et al. (2011). Minor physical anomalies in children with autism spectrum disorders. Autism, 15(6), 746–760.PubMedPubMedCentral
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.PubMedPubMedCentral 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.PubMedPubMedCentral
go back to reference Bernier, R., Steinman, K. J., Reilly, B., Wallace, A. S., Sherr, E. H., Pojman, N., et al. (2016). Clinical phenotype of the recurrent 1q21.1 copy-number variant. Genetics in Medicine, 18, 341–349.PubMed Bernier, R., Steinman, K. J., Reilly, B., Wallace, A. S., Sherr, E. H., Pojman, N., et al. (2016). Clinical phenotype of the recurrent 1q21.1 copy-number variant. Genetics in Medicine, 18, 341–349.PubMed
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.PubMed 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.PubMed
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.PubMedPubMedCentral 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.PubMedPubMedCentral
go back to reference Carey, J. C. (2009). Editorial comment: Editor’s foreword to a special issue ‘Elements of Morphology: Standard Terminology’. American Journal of Medical Genetics, Part A, 149A, 1. Carey, J. C. (2009). Editorial comment: Editor’s foreword to a special issue ‘Elements of Morphology: Standard Terminology’. American Journal of Medical Genetics, Part A, 149A, 1.
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.PubMed 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.PubMed
go back to reference Firestone, P., Peters, S., Rivier, M., & Knights, R. (1978). Minor physical anomalies in hyperactive, retarded and normal children and their families. Journal of Child Psychology and Psychiatry, 19, 55–160. Firestone, P., Peters, S., Rivier, M., & Knights, R. (1978). Minor physical anomalies in hyperactive, retarded and normal children and their families. Journal of Child Psychology and Psychiatry, 19, 55–160.
go back to reference Fujimura, J. H., & Rajagopalan, R. (2011). Different differences: The use of ‘genetic ancestry’ versus race in biomedical human genetic research. Social Studies of Science, 41(1), 5–30.PubMedPubMedCentral Fujimura, J. H., & Rajagopalan, R. (2011). Different differences: The use of ‘genetic ancestry’ versus race in biomedical human genetic research. Social Studies of Science, 41(1), 5–30.PubMedPubMedCentral
go back to reference Gerald, D. (2007). Developmental Profile 3rd edition (DP-3). Los Angeles, CA: Western Psychological Services. Gerald, D. (2007). Developmental Profile 3rd edition (DP-3). Los Angeles, CA: Western Psychological Services.
go back to reference Hultman, C., Sparen, P., & Cnattingius, S. (2002). Perinatal risk factors for infantile autism. Epidemiology, 13, 417–423.PubMed Hultman, C., Sparen, P., & Cnattingius, S. (2002). Perinatal risk factors for infantile autism. Epidemiology, 13, 417–423.PubMed
go back to reference Hyman, S. L., Levy, S. E., Myers, S. M., & Council on Children with Disabilities, Section on Developmental, and Behavioural Paediatrics. (2020). Identification, evaluation, and management of children with Autism Spectrum Disorder. Pediatrics, 145(1), e20193447.PubMed Hyman, S. L., Levy, S. E., Myers, S. M., & Council on Children with Disabilities, Section on Developmental, and Behavioural Paediatrics. (2020). Identification, evaluation, and management of children with Autism Spectrum Disorder. Pediatrics, 145(1), e20193447.PubMed
go back to reference Ismail, B., Cantor-Graae, E., & McNeil, T. F. (1998). Minor physical anomalies in schizophrenic patients and their siblings. American Journal of Psychiatry, 155, 1695–1702. Ismail, B., Cantor-Graae, E., & McNeil, T. F. (1998). Minor physical anomalies in schizophrenic patients and their siblings. American Journal of Psychiatry, 155, 1695–1702.
go back to reference Johnson, C. P., Myers, S. M., & the Council on Children with Disabilities. (2007). Identification and evaluation of children with Autism Spectrum Disorders. Pediatrics, 120(5), 1183–1215.PubMed Johnson, C. P., Myers, S. M., & the Council on Children with Disabilities. (2007). Identification and evaluation of children with Autism Spectrum Disorders. Pediatrics, 120(5), 1183–1215.PubMed
go back to reference Juneja, M., Mukherjee, S. B., & Sharma, S. (2005). A descriptive hospital-based study of children with autism. Indian Pediatrics, 42(5), 453–458.PubMed Juneja, M., Mukherjee, S. B., & Sharma, S. (2005). A descriptive hospital-based study of children with autism. Indian Pediatrics, 42(5), 453–458.PubMed
go back to reference Krishnan, A., Zhang, R., Yao, V., Theesfeld, C. L., Wong, A. K., Tadych, A., et al. (2016). Genome-wide prediction and functional characterization of the genetic basis of autism spectrum disorder. Nature Neuroscience, 19(11), 1454–1462.PubMedPubMedCentral Krishnan, A., Zhang, R., Yao, V., Theesfeld, C. L., Wong, A. K., Tadych, A., et al. (2016). Genome-wide prediction and functional characterization of the genetic basis of autism spectrum disorder. Nature Neuroscience, 19(11), 1454–1462.PubMedPubMedCentral
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, 115–119.PubMed 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, 115–119.PubMed
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. Association with major malformations. Journal of Pediatrics, 110(4), 531–537. Leppig, K. A., Werler, M. M., Cann, C. I., Cook, C. A., & Holmes, L. B. (1987). Predictive value of minor anomalies. Association with major malformations. Journal of Pediatrics, 110(4), 531–537.
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, 273–285.PubMed 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, 273–285.PubMed
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. 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.
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.PubMed Miles, J. H., & Hillman, R. E. (2000). Value of a clinical morphology examination in autism. American Journal of Medical Genetics, 91(4), 245–253.PubMed
go back to reference Miles, J. H., Takahashi, T. N., Bagby, S., Sahota, P. K., Vaslow, D. F., Wang, C. H., et al. (2005). Essential versus complex autism: Definition of fundamental prognostic subtypes. American Journal of Medical Genetics, 135A, 171–180. Miles, J. H., Takahashi, T. N., Bagby, S., Sahota, P. K., Vaslow, D. F., Wang, C. H., et al. (2005). Essential versus complex autism: Definition of fundamental prognostic subtypes. American Journal of Medical Genetics, 135A, 171–180.
go back to reference Miles, J. H., Takahashi, T. N., Hong, J., Munden, N., Flournoy, N., Braddock, S. R., et al. (2008). Development and validation of a measure of dysmorphology: Useful for autism subgroup classification. American Journal of Medical Genetics, 146A(9), 1101–1116.PubMed Miles, J. H., Takahashi, T. N., Hong, J., Munden, N., Flournoy, N., Braddock, S. R., et al. (2008). Development and validation of a measure of dysmorphology: Useful for autism subgroup classification. American Journal of Medical Genetics, 146A(9), 1101–1116.PubMed
go back to reference Mukherjee, S. B., Aneja, S., & Sharma, S. (2019). Diagnostic Accuracy of Indian Scale for Assessment in Autism in Indian children aged 2–5 years. Indian Pediatrics, 56(10), 831–836.PubMed Mukherjee, S. B., Aneja, S., & Sharma, S. (2019). Diagnostic Accuracy of Indian Scale for Assessment in Autism in Indian children aged 2–5 years. Indian Pediatrics, 56(10), 831–836.PubMed
go back to reference Mukherjee, S. B., Malhotra, M., Aneja, S., Chakraborty, S., & Deshpande, S. (2015). Diagnostic Accuracy of Indian Scale for Assessment of Autism (ISAA) in children aged 2–9 years. Indian Paediatrics, 52(3), 212–216. Mukherjee, S. B., Malhotra, M., Aneja, S., Chakraborty, S., & Deshpande, S. (2015). Diagnostic Accuracy of Indian Scale for Assessment of Autism (ISAA) in children aged 2–9 years. Indian Paediatrics, 52(3), 212–216.
go back to reference Nebel, R. A., Kirschen, J., Cai, J., Woo, Y. J., Cherian, K., & Abrahams, B. S. (2015). Reciprocal relationship between head Size, an autism endophenotype, and gene dosage at 19p13.12 points to AKAP8 and AKAP8L. PLoS ONE, 10(6), e0129270.PubMedPubMedCentral Nebel, R. A., Kirschen, J., Cai, J., Woo, Y. J., Cherian, K., & Abrahams, B. S. (2015). Reciprocal relationship between head Size, an autism endophenotype, and gene dosage at 19p13.12 points to AKAP8 and AKAP8L. PLoS ONE, 10(6), e0129270.PubMedPubMedCentral
go back to reference Ozgen, H., Hellemann, G. S., de Jonge, M. V., Beemer, F. A., & van Engeland, H. (2013). Predictive value of morphological features in patients with Autism versus normal controls. Journal of Autism and Developmental Disorders, 43, 147–155.PubMed Ozgen, H., Hellemann, G. S., de Jonge, M. V., Beemer, F. A., & van Engeland, H. (2013). Predictive value of morphological features in patients with Autism versus normal controls. Journal of Autism and Developmental Disorders, 43, 147–155.PubMed
go back to reference Ozgen, H. M., Hop, J. W., Hox, J. J., Beemer, F. A., & van Engeland, H. (2010). Minor physical anomalies in autism: A meta-analysis. Molecular Psychiatry, 15, 300–307.PubMed Ozgen, H. M., Hop, J. W., Hox, J. J., Beemer, F. A., & van Engeland, H. (2010). Minor physical anomalies in autism: A meta-analysis. Molecular Psychiatry, 15, 300–307.PubMed
go back to reference Quinn, P., & Rapoport, J. (1974). Minor physical anomalies and neurological status in hyperactive boys. Pediatrics, 53, 742–747.PubMed Quinn, P., & Rapoport, J. (1974). Minor physical anomalies and neurological status in hyperactive boys. Pediatrics, 53, 742–747.PubMed
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, 319–325.PubMed Rodier, P. M., Bryson, S. E., & Welch, J. P. (1997). Minor malformations and physical measurements in Autism: Data from Nova Scotia. Teratology, 55, 319–325.PubMed
go back to reference Sacco, R., Gabriele, S., & Persico, A. M. (2015). Head circumference and brain size in autism spectrum disorder: A systematic review and meta-analysis. Psychiatry Research: Neuroimaging, 234(2), 239–251.PubMed Sacco, R., Gabriele, S., & Persico, A. M. (2015). Head circumference and brain size in autism spectrum disorder: A systematic review and meta-analysis. Psychiatry Research: Neuroimaging, 234(2), 239–251.PubMed
go back to reference Schopler, E., & Van Bourgondien, M. E. (2011). The Childhood Autism Rating Scale, 2nd edition (CARS-2). Los Angeles: Western Psychological Services Inc. Schopler, E., & Van Bourgondien, M. E. (2011). The Childhood Autism Rating Scale, 2nd edition (CARS-2). Los Angeles: Western Psychological Services Inc.
go back to reference Shapira, S. K., Tian, L. H., Aylsworth, A. S., Elias, E. R., Hoover-Fong, J. E., Naomi, J. L., et al. (2019). A novel approach to dysmorphology to enhance the phenotypic classification of Autism Spectrum Disorder in the study to explore early development. Journal of Autism and Developmental Disorders, 49(5), 2184–2202.PubMedPubMedCentral Shapira, S. K., Tian, L. H., Aylsworth, A. S., Elias, E. R., Hoover-Fong, J. E., Naomi, J. L., et al. (2019). A novel approach to dysmorphology to enhance the phenotypic classification of Autism Spectrum Disorder in the study to explore early development. Journal of Autism and Developmental Disorders, 49(5), 2184–2202.PubMedPubMedCentral
go back to reference Singhi, P., & Malhi, P. (2001). Clinical and neurodevelopmental profile of young children with Autism. Indian Pediatrics, 38, 384–390.PubMed Singhi, P., & Malhi, P. (2001). Clinical and neurodevelopmental profile of young children with Autism. Indian Pediatrics, 38, 384–390.PubMed
go back to reference Sivkov, S. T., & Akabaliev, V. H. (2004). Discriminating value of total minor physical anomaly score on the Waldrop Physical Anomaly Scale between schizophrenia patients and normal control subjects. Schizophrenia Bulletin, 30(2), 361–366.PubMed Sivkov, S. T., & Akabaliev, V. H. (2004). Discriminating value of total minor physical anomaly score on the Waldrop Physical Anomaly Scale between schizophrenia patients and normal control subjects. Schizophrenia Bulletin, 30(2), 361–366.PubMed
go back to reference Smalley, S. L., Asarnow, R. F., & Spence, A. (1988). Autism and genetics: A decade of research. Archives of General Psychiatry, 45, 953–961.PubMed Smalley, S. L., Asarnow, R. F., & Spence, A. (1988). Autism and genetics: A decade of research. Archives of General Psychiatry, 45, 953–961.PubMed
go back to reference Sparrow, S. S., Cicchetti, V. D., & Balla, A. D. (2005). Vineland Adaptive Behavior Scales. 2nd edition (VABS-II). Circle Pines, MN: American Guidance Service. Sparrow, S. S., Cicchetti, V. D., & Balla, A. D. (2005). Vineland Adaptive Behavior Scales. 2nd edition (VABS-II). Circle Pines, MN: American Guidance Service.
go back to reference Steg, J., & Rapoport, J. (1975). Minor physical anomalies in normal, neurotic, learning disabled, and severely disturbed children. Journal of Autism and Childhood Schizophrenia, 5, 299–307.PubMed Steg, J., & Rapoport, J. (1975). Minor physical anomalies in normal, neurotic, learning disabled, and severely disturbed children. Journal of Autism and Childhood Schizophrenia, 5, 299–307.PubMed
go back to reference Timonen-Soivio, L., Vanhala, R., Malm, H., Leivonen, S., Jokiranta, E., Hinkka-Yli-Salomaki, S., et al. (2015). The association between congenital anomalies and autism spectrum disorders in a Finnish national birth cohort. Developmental Medicine and Child Neurology, 57(1), 75–80.PubMed Timonen-Soivio, L., Vanhala, R., Malm, H., Leivonen, S., Jokiranta, E., Hinkka-Yli-Salomaki, S., et al. (2015). The association between congenital anomalies and autism spectrum disorders in a Finnish national birth cohort. Developmental Medicine and Child Neurology, 57(1), 75–80.PubMed
go back to reference Tripi, G., Roux, S., Canziani, T., Brilhault, F. B., Barthelemy, C., & Canziani, F. (2008). Minor physical anomalies in children with autism spectrum disorder. Early Human Development, 84, 217–223.PubMed Tripi, G., Roux, S., Canziani, T., Brilhault, F. B., Barthelemy, C., & Canziani, F. (2008). Minor physical anomalies in children with autism spectrum disorder. Early Human Development, 84, 217–223.PubMed
go back to reference Tripi, G., Roux, S., Matranga, D., Maniscalco, L., Glorioso, P., Bonnet-Brilhault, F., et al. (2019). Cranio-facial characteristics in children with Autism Spectrum Disorders (ASD). Journal of Clinical Medicine, 8, 641–650.PubMedCentral Tripi, G., Roux, S., Matranga, D., Maniscalco, L., Glorioso, P., Bonnet-Brilhault, F., et al. (2019). Cranio-facial characteristics in children with Autism Spectrum Disorders (ASD). Journal of Clinical Medicine, 8, 641–650.PubMedCentral
go back to reference Volkmar, F., Siegel, M., Woodbury-Smith, M., King, B., McCracken, J., State, M., et al. (2014). Practice Parameter for the assessment and treatment of children and adolescents with Autism Spectrum Disorder. Journal of the American Academy of Child and Adolescent Psychiatry, 53(2), 237–257.PubMed Volkmar, F., Siegel, M., Woodbury-Smith, M., King, B., McCracken, J., State, M., et al. (2014). Practice Parameter for the assessment and treatment of children and adolescents with Autism Spectrum Disorder. Journal of the American Academy of Child and Adolescent Psychiatry, 53(2), 237–257.PubMed
go back to reference Waldrop, M., & Halverson, C. (1971). Minor physical anomalies and hyperactive behaviour in children. In J. Hellmuth (Ed.), Exceptional infant: Studies in abnormalities (Vol. 2, pp. 343–380). New York: Brunner/Mazel. Waldrop, M., & Halverson, C. (1971). Minor physical anomalies and hyperactive behaviour in children. In J. Hellmuth (Ed.), Exceptional infant: Studies in abnormalities (Vol. 2, pp. 343–380). New York: Brunner/Mazel.
go back to reference Walker, H. A. (1977). Incidence of minor physical anomaly in autism. Journal of Autism and Childhood Schizophrenia, 7, 165–176.PubMed Walker, H. A. (1977). Incidence of minor physical anomaly in autism. Journal of Autism and Childhood Schizophrenia, 7, 165–176.PubMed
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.PubMed 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.PubMed
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.PubMed 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.PubMed
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.PubMed 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.PubMed
go back to reference Zachor, D. A., & Ben-Itzchak, E. (2016). Specific medical conditions are associated with unique behavioural profiles in Autism Spectrum Disorder. Frontiers in Neuroscience, 10, 57–67. Zachor, D. A., & Ben-Itzchak, E. (2016). Specific medical conditions are associated with unique behavioural profiles in Autism Spectrum Disorder. Frontiers in Neuroscience, 10, 57–67.
Metagegevens
Titel
Identification of Essential, Equivocal and Complex Autism by the Autism Dysmorphology Measure: An Observational Study
Auteurs
Sharmila B. Mukherjee
Neelam
Seema Kapoor
Suvasini Sharma
Publicatiedatum
07-08-2020
Uitgeverij
Springer US
Gepubliceerd in
Journal of Autism and Developmental Disorders / Uitgave 5/2021
Print ISSN: 0162-3257
Elektronisch ISSN: 1573-3432
DOI
https://doi.org/10.1007/s10803-020-04641-x

Andere artikelen Uitgave 5/2021

Journal of Autism and Developmental Disorders 5/2021 Naar de uitgave