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Gepubliceerd in: Journal of Autism and Developmental Disorders 2/2018

12-10-2017 | Original Paper

Array-CGH Analysis in a Cohort of Phenotypically Well-Characterized Individuals with “Essential” Autism Spectrum Disorders

Auteurs: Eleonora Napoli, Serena Russo, Laura Casula, Viola Alesi, Filomena Alessandra Amendola, Adriano Angioni, Antonio Novelli, Giovanni Valeri, Deny Menghini, Stefano Vicari

Gepubliceerd in: Journal of Autism and Developmental Disorders | Uitgave 2/2018

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Abstract

Copy-number variants (CNVs) are associated with susceptibility to autism spectrum disorder (ASD). To detect the presence of CNVs, we conducted an array-comparative genomic hybridization (array-CGH) analysis in 133 children with “essential” ASD phenotype. Genetic analyses documented that 12 children had causative CNVs (C-CNVs), 29 children had non-causative CNVs (NC-CNVs) and 92 children without CNVs (W-CNVs). Results on clinical evaluation showed no differences in cognitive abilities among the three groups, and a higher number of ASD symptoms and of non-verbal children in the C-CNVs group compared to the W-CNVs and NC-CNVs groups. Our results highlighted the importance of the array-CGH analyses and showed that the presence of specific CNVs may differentiate clinical outputs in children with ASD.

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Literatuur
go back to reference Al-Mamari, W., Al-Saegh, A., Al-Kindy, A., Bruwer, Z., Al-Murshedi, F., & Al-Thihli, K. (2015). Diagnostic yield of chromosomal microarray analysis in a cohort of patients with autism spectrum disorders from a highly consanguineous population. Journal of Autism and Developmental Disorders, 45(8), 2323–2328. doi: 10.​1007/​s10803-015-2394-9. doi. CrossRefPubMed Al-Mamari, W., Al-Saegh, A., Al-Kindy, A., Bruwer, Z., Al-Murshedi, F., & Al-Thihli, K. (2015). Diagnostic yield of chromosomal microarray analysis in a cohort of patients with autism spectrum disorders from a highly consanguineous population. Journal of Autism and Developmental Disorders, 45(8), 2323–2328. doi: 10.​1007/​s10803-015-2394-9. doi. CrossRefPubMed
go back to reference American Psychiatric Association, & American Psychiatric Association. (2000). DSM-IV-TR: Diagnostic and statistical manual of mental disorders, text revision. Washington, DC: American Psychiatric Association. American Psychiatric Association, & American Psychiatric Association. (2000). DSM-IV-TR: Diagnostic and statistical manual of mental disorders, text revision. Washington, DC: American Psychiatric Association.
go back to reference American Psychiatric Association. (2013). Diagnostic and statistical manual of mental disorders (DSM-5®). Washington, DC: American Psychiatric Publication. CrossRef American Psychiatric Association. (2013). Diagnostic and statistical manual of mental disorders (DSM-5®). Washington, DC: American Psychiatric Publication. CrossRef
go back to reference Battaglia, A., Doccini, V., Bernardini, L., Novelli, A., Loddo, S., Capalbo, A., et al. (2013). Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features. European Journal of Paediatric Neurology, 17(6), 589–599. doi: 10.​1016/​j.​ejpn.​2013.​04.​010. CrossRefPubMed Battaglia, A., Doccini, V., Bernardini, L., Novelli, A., Loddo, S., Capalbo, A., et al. (2013). Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features. European Journal of Paediatric Neurology, 17(6), 589–599. doi: 10.​1016/​j.​ejpn.​2013.​04.​010. CrossRefPubMed
go back to reference Bremer, A., Giacobini, M., Eriksson, M., Gustavsson, P., Nordin, V., Fernell, E., et al. (2011). Copy number variation characteristics in subpopulations of patients with autism spectrum disorders. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 156(2), 115–124. doi: 10.​1002/​ajmg.​b.​31142. CrossRef Bremer, A., Giacobini, M., Eriksson, M., Gustavsson, P., Nordin, V., Fernell, E., et al. (2011). Copy number variation characteristics in subpopulations of patients with autism spectrum disorders. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 156(2), 115–124. doi: 10.​1002/​ajmg.​b.​31142. CrossRef
go back to reference Coe, B. P., Witherspoon, K., Rosenfeld, J. A., Van Bon, B. W., Vulto-van Silfhout, A. T., Bosco, P., et al. (2014). Refining analyses of copy number variation identifies specific genes associated with developmental delay. Nature Genetics, 46(10), 1063–1071. doi: 10.​1038/​ng.​3092. CrossRefPubMedPubMedCentral Coe, B. P., Witherspoon, K., Rosenfeld, J. A., Van Bon, B. W., Vulto-van Silfhout, A. T., Bosco, P., et al. (2014). Refining analyses of copy number variation identifies specific genes associated with developmental delay. Nature Genetics, 46(10), 1063–1071. doi: 10.​1038/​ng.​3092. CrossRefPubMedPubMedCentral
go back to reference Conrad, D. F., Pinto, D., Redon, R., Feuk, L., Gokcumen, O., Zhang, Y., et al. (2010). Origins and functional impact of copy number variation in the human genome. Nature, 464(7289), 704–712. doi: 10.​1038/​nature08516. CrossRefPubMed Conrad, D. F., Pinto, D., Redon, R., Feuk, L., Gokcumen, O., Zhang, Y., et al. (2010). Origins and functional impact of copy number variation in the human genome. Nature, 464(7289), 704–712. doi: 10.​1038/​nature08516. CrossRefPubMed
go back to reference Eapen, V., Crncec, R., & Walter, A. (2013). Exploring links between genotypes, phenotypes, and clinical predictors of response to early intensive behavioral intervention in autism spectrum disorder. Frontiers in Human Neuroscience, 11(7), 1662–5161. doi: 10.​3389/​fnhum.​2013.​00567. Eapen, V., Crncec, R., & Walter, A. (2013). Exploring links between genotypes, phenotypes, and clinical predictors of response to early intensive behavioral intervention in autism spectrum disorder. Frontiers in Human Neuroscience, 11(7), 1662–5161. doi: 10.​3389/​fnhum.​2013.​00567.
go back to reference Fombonne, E., Quirke, S., & Hagen, A. (2011). Epidemiology of pervasive developmental disorders. In D. G. Amaral, G. Dawson & D. H. Geschwind (Eds.), Autism spectrum disorders (pp. 90–111). New York: Oxford University Press. CrossRef Fombonne, E., Quirke, S., & Hagen, A. (2011). Epidemiology of pervasive developmental disorders. In D. G. Amaral, G. Dawson & D. H. Geschwind (Eds.), Autism spectrum disorders (pp. 90–111). New York: Oxford University Press. CrossRef
go back to reference Ingram, D. G., Takahashi, T. N., & Miles, J. H. (2008). Defining autism subgroups: a taxometric solution. Journal of Autism and Developmental Disorders, 38(5), 950–960. CrossRefPubMed Ingram, D. G., Takahashi, T. N., & Miles, J. H. (2008). Defining autism subgroups: a taxometric solution. Journal of Autism and Developmental Disorders, 38(5), 950–960. CrossRefPubMed
go back to reference Jacquemont, M. L., Sanlaville, D., Redon, R., Raoul, O., Cormier-Daire, V., Lyonnet, S., et al. (2006). Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders. Journal of Medical Genetics, 43(11), 843–849. doi: 10.​1136/​jmg.​2006.​043166. CrossRefPubMedPubMedCentral Jacquemont, M. L., Sanlaville, D., Redon, R., Raoul, O., Cormier-Daire, V., Lyonnet, S., et al. (2006). Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders. Journal of Medical Genetics, 43(11), 843–849. doi: 10.​1136/​jmg.​2006.​043166. CrossRefPubMedPubMedCentral
go back to reference Kearney, H. M., Thorland, E. C., Brown, K. K., Quintero-Rivera, F., & South, S. T. (2011). American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants. Genetics in Medicine, 13(7), 680–685. doi: 10.​1097/​GIM.​0b013e3182217a3a​. CrossRefPubMed Kearney, H. M., Thorland, E. C., Brown, K. K., Quintero-Rivera, F., & South, S. T. (2011). American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants. Genetics in Medicine, 13(7), 680–685. doi: 10.​1097/​GIM.​0b013e3182217a3a​. CrossRefPubMed
go back to reference Lord, C., Risi, S., Lambrecht, L., Cook, E. H., Leventhal, B. L., & DiLavore, P. C. .et al. (2000). The Autism Diagnostic Observation Schedule—Generic: A standard measure of social and communication deficits associated with the spectrum of autism. Journal of Autism and Developmental Disorders, 30(3), 205–223. doi: 10.​1023/​A:​1005592401947. CrossRefPubMed Lord, C., Risi, S., Lambrecht, L., Cook, E. H., Leventhal, B. L., & DiLavore, P. C. .et al. (2000). The Autism Diagnostic Observation Schedule—Generic: A standard measure of social and communication deficits associated with the spectrum of autism. Journal of Autism and Developmental Disorders, 30(3), 205–223. doi: 10.​1023/​A:​1005592401947. CrossRefPubMed
go back to reference Lord, C., Rutter, M., & Couteur, A. (1994). Autism Diagnostic Interview-Revised: A revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders. Journal of Autism and Developmental Disorders, 24(5), 659–685. doi: 10.​1007/​BF02172145. CrossRefPubMed Lord, C., Rutter, M., & Couteur, A. (1994). Autism Diagnostic Interview-Revised: A revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders. Journal of Autism and Developmental Disorders, 24(5), 659–685. doi: 10.​1007/​BF02172145. CrossRefPubMed
go back to reference Luiz, D., Barnard, A., Knoesen, N., Kotras, N., Horrocks, S., McAlinden, P., et al. (2006). GMDS-ER 2–8—Griffiths Mental Development Scales—Extended Revised: 2 to 8 years. In C. Cianchetti & G. S. Fancello (Eds.), Firenze: Giunti Organizzazioni Speciali. Luiz, D., Barnard, A., Knoesen, N., Kotras, N., Horrocks, S., McAlinden, P., et al. (2006). GMDS-ER 2–8—Griffiths Mental Development Scales—Extended Revised: 2 to 8 years. In C. Cianchetti & G. S. Fancello (Eds.), Firenze: Giunti Organizzazioni Speciali.
go back to reference Merikangas, A. K., Segurado, R., Heron, E. A., Anney, R. J. L., Paterson, A. D., Cook, E. H., et al. (2015). The phenotypic manifestations of rare genic CNVs in autism spectrum disorder. Molecular Psychiatry, 20(11), 1366–1372. doi: 10.​1038/​mp.​2014.​150. CrossRefPubMed Merikangas, A. K., Segurado, R., Heron, E. A., Anney, R. J. L., Paterson, A. D., Cook, E. H., et al. (2015). The phenotypic manifestations of rare genic CNVs in autism spectrum disorder. Molecular Psychiatry, 20(11), 1366–1372. doi: 10.​1038/​mp.​2014.​150. CrossRefPubMed
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 Part A, 135(2), 171–180. doi: 10.​1002/​ajmg.​a.​30590. CrossRefPubMed 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 Part A, 135(2), 171–180. doi: 10.​1002/​ajmg.​a.​30590. CrossRefPubMed
go back to reference Miller, D. T., Adam, M. P., Aradhya, S., Biesecker, L. G., Brothman, A. R., Carter, N. P., et al. (2010). Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. The American Journal of Human Genetics, 86(5), 749–764. doi: 10.​1016/​j.​ajhg.​2010.​04.​006. CrossRefPubMed Miller, D. T., Adam, M. P., Aradhya, S., Biesecker, L. G., Brothman, A. R., Carter, N. P., et al. (2010). Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. The American Journal of Human Genetics, 86(5), 749–764. doi: 10.​1016/​j.​ajhg.​2010.​04.​006. CrossRefPubMed
go back to reference Oikonomakis, V., Kosma, K., Mitrakos, A., Sofocleous, C., Pervanidou, P., Syrmou, A., et al. (2016). Recurrent copy number variations as risk factors for autism spectrum disorders: analysis of the clinical implications. Clinical Genetics. doi: 10.​1111/​cge.​12740. PubMed Oikonomakis, V., Kosma, K., Mitrakos, A., Sofocleous, C., Pervanidou, P., Syrmou, A., et al. (2016). Recurrent copy number variations as risk factors for autism spectrum disorders: analysis of the clinical implications. Clinical Genetics. doi: 10.​1111/​cge.​12740. PubMed
go back to reference Ozgen, H. M., Staal, W. G., Barber, J. C., de Jonge, M. V., Eleveld, M. J., Beemer, F. A., et al. (2009). A novel 6.14 Mb duplication of chromosome 8p21 in a patient with autism and self mutilation. Journal of Autism and Developmental Disorders, 39(2), 322–329. doi: 10.​1007/​s10803-008-0627-x. CrossRefPubMed Ozgen, H. M., Staal, W. G., Barber, J. C., de Jonge, M. V., Eleveld, M. J., Beemer, F. A., et al. (2009). A novel 6.14 Mb duplication of chromosome 8p21 in a patient with autism and self mutilation. Journal of Autism and Developmental Disorders, 39(2), 322–329. doi: 10.​1007/​s10803-008-0627-x. CrossRefPubMed
go back to reference Ozonoff, S., Young, G. S., Carter, A., Messinger, D., Yirmiya, N., Zwaigenbaum, L., et al. (2011). Recurrence risk for autism spectrum disorders: A Baby Siblings Research Consortium study. Pediatrics, 128(3), e488–e495. PubMedPubMedCentral Ozonoff, S., Young, G. S., Carter, A., Messinger, D., Yirmiya, N., Zwaigenbaum, L., et al. (2011). Recurrence risk for autism spectrum disorders: A Baby Siblings Research Consortium study. Pediatrics, 128(3), e488–e495. PubMedPubMedCentral
go back to reference Pinto, D., Pagnamenta, A. T., Klei, L., Anney, R., Merico, D., Regan, R., et al. (2010). Functional impact of global rare copy number variation in autism spectrum disorders. Nature, 466(7304), 368–372. CrossRefPubMedPubMedCentral Pinto, D., Pagnamenta, A. T., Klei, L., Anney, R., Merico, D., Regan, R., et al. (2010). Functional impact of global rare copy number variation in autism spectrum disorders. Nature, 466(7304), 368–372. CrossRefPubMedPubMedCentral
go back to reference Postorino, V., Fatta, L. M., Sanges, V., Giovagnoli, G., De Peppo, L., Vicari, S., & Mazzone, L. (2016). Intellectual disability in autism spectrum disorder: Investigation of prevalence in an Italian sample of children and adolescents. Research in Developmental Disabilities, 48, 193–201. doi: 10.​1016/​j.​ridd.​2015.​10.​020. CrossRefPubMed Postorino, V., Fatta, L. M., Sanges, V., Giovagnoli, G., De Peppo, L., Vicari, S., & Mazzone, L. (2016). Intellectual disability in autism spectrum disorder: Investigation of prevalence in an Italian sample of children and adolescents. Research in Developmental Disabilities, 48, 193–201. doi: 10.​1016/​j.​ridd.​2015.​10.​020. CrossRefPubMed
go back to reference Roid, G., & Miller, L. (1997). Leiter international performance scale–revised. Wood Dale, IL: Stoelting. Roid, G., & Miller, L. (1997). Leiter international performance scale–revised. Wood Dale, IL: Stoelting.
go back to reference Schaefer, G. B., & Mendelsohn, N. J. & Professional Practice and Guidelines Committee. (2013). Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. Genetics in Medicine, 15(5), 399–407. doi: 10.​1038/​gim.​2013.​32. CrossRefPubMed Schaefer, G. B., & Mendelsohn, N. J. & Professional Practice and Guidelines Committee. (2013). Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. Genetics in Medicine, 15(5), 399–407. doi: 10.​1038/​gim.​2013.​32. CrossRefPubMed
go back to reference Schaefer, G. B., Starr, L., Pickering, D., Skar, G., DeHaai, K., & Sanger, W. G. (2010). Array comparative genomic hybridization findings in a cohort referred for an autism evaluation. Journal of Child Neurology, 25(12), 1498–1503. doi: 10.​1177/​0883073810370479​. CrossRefPubMed Schaefer, G. B., Starr, L., Pickering, D., Skar, G., DeHaai, K., & Sanger, W. G. (2010). Array comparative genomic hybridization findings in a cohort referred for an autism evaluation. Journal of Child Neurology, 25(12), 1498–1503. doi: 10.​1177/​0883073810370479​. CrossRefPubMed
go back to reference Shaffer, L. G., McGowan-Jordan, J., & Schmid, M. (Eds.) (2013). ISCN 2013: An international system for human cytogenetic nomenclature (2013). Basel: Karger Medical and Scientific Publishers. Shaffer, L. G., McGowan-Jordan, J., & Schmid, M. (Eds.) (2013). ISCN 2013: An international system for human cytogenetic nomenclature (2013). Basel: Karger Medical and Scientific Publishers.
Metagegevens
Titel
Array-CGH Analysis in a Cohort of Phenotypically Well-Characterized Individuals with “Essential” Autism Spectrum Disorders
Auteurs
Eleonora Napoli
Serena Russo
Laura Casula
Viola Alesi
Filomena Alessandra Amendola
Adriano Angioni
Antonio Novelli
Giovanni Valeri
Deny Menghini
Stefano Vicari
Publicatiedatum
12-10-2017
Uitgeverij
Springer US
Gepubliceerd in
Journal of Autism and Developmental Disorders / Uitgave 2/2018
Print ISSN: 0162-3257
Elektronisch ISSN: 1573-3432
DOI
https://doi.org/10.1007/s10803-017-3329-4