Top

Journal of Autism and Developmental Disorders

Tip

Swipe om te navigeren naar een ander artikel

Gepubliceerd in:

01-08-2012 | Original Paper

Diagnostic Yield of Chromosomal Microarray Analysis in an Autism Primary Care Practice: Which Guidelines to Implement?

Auteurs: Susan G. McGrew, Brittany R. Peters, Julie A. Crittendon, Jeremy Veenstra-VanderWeele

Gepubliceerd in: Journal of Autism and Developmental Disorders | Uitgave 8/2012

Abstract

Genetic testing is recommended for patients with ASD; however specific recommendations vary by specialty. American Academy of Pediatrics and American Academy of Neurology guidelines recommend G-banded karyotype and Fragile X DNA. The American College of Medical Genetics recommends Chromosomal Microarray Analysis (CMA). We determined the yield of CMA (N = 85), karyotype (N = 119), and fragile X (N = 174) testing in a primary pediatrics autism practice. We found twenty (24%) patients with abnormal CMA results (eight were clinically significant), three abnormal karyotypes and one Fragile X syndrome. There was no relationship between CMA result and cognitive level, seizures, dysmorphology, congenital malformations or behavior. We conclude that CMA should be the clinical standard in all specialties for first tier genetic testing in ASD.

vorige artikel Using Individualized Reinforcers and Hierarchical Exposure to Increase Food Flexibility in Children with Autism Spectrum Disorders

volgende artikel Psychotropic Medications in Children with Autism Spectrum Disorders: A Systematic Review and Synthesis for Evidence-Based Practice

Achenbach, T. M., & Rescorla, L. A. (2001a). Manual for the ASEBA pre-school forms and profiles. Burlington: University of Vermont, Research Center for Children, Youth, and Families.

Achenbach, T. M., & Rescorla, L. A. (2001b). Manual for the ASEBA school-age forms and profiles. Burlington: University of Vermont, Research Center for Children, Youth, and Families.

American Academy of Neurology (2000). Practice guidelines: Screening and diagnosis of autism. http://www.aan.com/practice/guideline/index.cfm?fuseaction=home.welcome&keywords=autism+Submit=Search+guidelines. Accessed 7/21/2011.

American Psychiatric Association (2000). Diagnostic and statistical manual of mental disorders (4th ed, text revision). Washington DC: American Psychiatric Association, (pp. 69–84).

Barrett, S., Landa, R., Beck, J. C., & Braun, T. A. (1999). An autosomal genomic screen for autism. American Journal of Medical Genetics, 88, 609–615.

Bayley, N. (1993). Bayley scales of infant development (2nd ed.). San Antonio: Psychological Corporation.

Berg, J. S., Brunetti-Pierri, N., Peters, S. U., Kang, S. H., et al. (2007). Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region. Genetic Medicine, 9(7), 427–441. CrossRef

Bisgaard, A. M., Kirchhoff, M., Nielsen, J. E., & Brandt, C. (2007). Transmitted cytogenetic abnormalities in patients with mental retardation: pathogenic or normal variants? European Journal of Medical Genetics, 50(4), 243–255. PubMedCrossRef

Boone, P. M., Bacino, C. A., Shaw, C. A., Eng, P. A., et al. (2010). Detection of clinically relevant exonic copy-number changes by array CGH. Human Mutation, 31(12), 1326–1342. PubMedCrossRef

Boyle, L., & Kaufmann, W. E. (2010). The behavioral phenotype of FMR1 mutations. American Journal of Medical Genetics Part C: Seminar in Medical Genetics, 154C, 469–476. CrossRef

Brenk, C. H., Prott, E. C., Trost, D., Hoischen, A., et al. (2007). Towards mapping phenotypical traits in 18p-syndrome by array-based comparative genomic hybridisation and fluorescent in situ hybridisation. European Journal of Human Genetics, 15(1), 35–44. PubMedCrossRef

Burnside, R. D., Pasion, R., Mikhail, F. M., Carroll, A. J., et al. (2011). Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay. Human Genetics [epub ahead of print].

Christian, S. L., Brune, C. W., Sudi, J., Kumar, R. A., et al. (2008). Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder. Biological Psychiatry, 63(12), 1111–1117. PubMedCrossRef

Cook, E. H., Jr., Lindgren, V., Leventhal, B. L., Courchesne, R., et al. (1997). Autism or atypical autism in maternally but not paternally derived proximal 15q duplication. American Journal of Human Genetics, 60(4), 928–934. PubMed

Cook, E. H., & Schanen, C. (2008). IDEAS physician advisory. http://www.idic15.org Accessed 5/2011.

Courtens, W., Vermeulen, S., Wuyts, W., Messiaen, L., et al. (2005). An interstitial deletion of chromosome 7 at band q21: A case report and review. American Journal of Medical Genetics, 134A(1), 12–23. PubMedCrossRef

Dauwerse, J. G., Ruivenkamp, C. A., Hansson, K., Marijnissen, G. M., et al. (2010). A complex chromosome 7q rearrangement identified in a patient with mental retardation, anxiety disorder, and autistic features. American Journal of Medical Genetics, 152A(2), 427–433. PubMedCrossRef

de Ravel, T. J., Thiry, P., & Fryns, J. P. (2005). Follow-up of adult males with chromosome 18p deletion. European Journal of Medical Genetics, 48(2), 189–193. PubMedCrossRef

DiGuiseppi, C., Hepburn, S., Davis, J., Fidler, D. J., et al. (2010). Screening for autism spectrum disorders in children with Down syndrome: Population prevalence and screening test characteristics. Journal of Developmental and Behavioral Pediatrics, 31(3), 181–191. PubMedCrossRef

Ezugha, H., Anderson, C. E., Marks, H. G., Khurana, D., et al. (2010). Microarray analysis in children with developmental disorder or epilepsy. Pediatric Neurology, 43(6), 391–394. PubMedCrossRef

Gilliam, J. E. (2006). Gilliam autism rating scale (2nd ed.). Austin, TX: ProEd.

Gonzales, M. L., & LaSalle, J. M. (2010). The role of MeCP2 in brain development and neurodevelopmental disorders. Current Psychiatry Reports, 12(2), 127–134. PubMedCrossRef

Honda, S., Hayashi, S., Imoto, I., Toyama, J., et al. (2010). Copy-number variations on the X chromosome in Japanese patients with mental retardation detected by array-based comparative genomic hybridization analysis. Journal of Human Genetics, 55(9), 590–599. PubMedCrossRef

IMGSAC. (1998). A full genome screen for autism with evidence for linkage to a region on chromosome 7q. Human Molecular Genetics, 7(3), 571–578. CrossRef

Jacquemont, M. L., Sanlaville, D., Redon, R., Raoul, O., 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. PubMedCrossRef

Johnson, C. P., & Myers, S. M. (2007). Identification and evaluation of children with autism spectrum disorders. Pediatrics, 120, 1183–1215. PubMedCrossRef

Konopka, W., Kiryk, A., Novak, M., Herwerth, M., et al. (2010). MicroRNA loss enhances learning and memory in mice. Journal of Neuroscience, 30(44), 14835–14842. PubMedCrossRef

Krug, D. A., Arick, J., & Almond, P. (1980). Behavior checklist for identifying severely handicapped individuals with high levels of autistic behavior. Journal of Child Psychology and Psychiatry, 21(3), 221–229. PubMedCrossRef

Kumar, R. A., KaraMohamed, S., Sudi, J., Conrad, D. F., et al. (2008). Recurrent 16p11.2 microdeletions in autism. Human Molecular Genetics, 17(4), 628–638. PubMedCrossRef

Liehr, T., Stumm, M., Wegner, R. D., Bhatt, S., et al. (2009). 10p11.2 to 10q11.2 is a yet unreported region leading to unbalanced chromosomal abnormalities without phenotypic consequences. Cytogenet Genome Research, 124(1), 102–105. CrossRef

Lintas, C., & Persico, A. M. (2009). Autistic phenotypes and genetic testing: State-of-the art for the clinical geneticist. Journal of Medical Genetics, 46(1), 1–8. PubMedCrossRef

Liu, P., Erez, A., Nagamani, S. C., Bi, W., et al. (2011). Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications. Human Molecular Genetics, 20(10), 1975–1988. PubMedCrossRef

Lord, C., Risi, S., Lambrecht, L., Cook, E. H., 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, 205–223. PubMedCrossRef

Manguoğlu, E., Berker-Karaüzüm, S., Baumer, A., Mihçi, E., et al. (2005). A case with de novo interstitial deletion of chromosome 7q21.1–q22. Genetic Counseling, 16(2), 155–159. PubMed

Manning, M., & Hudgins, L. (2010). Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities. Genetic Medicine, 12(11), 742–745. CrossRef

McGrew, S., Malow, B. A., Henderson, L., Wang, L., et al. (2007). Developmental and behavioral questionnaire for autism spectrum disorders. Pediatric Neurology, 37(2), 108–116. PubMedCrossRef

Miles, J. H., & Hillman, R. E. (2000). Value of a clinical morphology examination in autism. American Journal of Medical Genetics, 91, 245–253. PubMedCrossRef

Miles, J. H., Takahashi, T. N., Bagby, S., Sahota, P. K., et al. (2005). Essential versus complex autism: Definition of fundamental prognostic subtypes. American Journal of Medical Genetics A, 135A, 171–180. CrossRef

Miles, J. H., Takahasi, N., Hong, J., Munden, N., et al. (2008). Development and validation of a measure of dysmorphology: useful for autism subgroup classification. American Journal of Medical Genetics A, 146A(9), 1101–1116. CrossRef

Miller, D. T. (2010). Genetic testing for autism: Recent advances and clinical implications. Expert Review of Molecular Diagnostics, 10, 837–840. PubMedCrossRef

Miller, D. T., Adam, M. P., Aradhya, S., Biesecker, L. G., et al. (2010). Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. American Journal of Human Genetics, 86(5), 749–764. PubMedCrossRef

Miller, D. T., Shen, Y., Weiss, L. A., Korn, J., et al. (2009). Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders. Journal of Medical Genetics, 46(4), 242–248. PubMedCrossRef

Muhle, R., Trentacoste, S. V., & Rapin, I. (2004). The genetics of autism. Pediatrics, 113, e472–e486. PubMedCrossRef

Mullen, E. M. (1995). Mullen scales of early learning (AGS ed.). Circle Pines: American Guidance Service Inc.

Numis, A. L., Major, P., Montenegro, M. A., Muzykewicz, D. A., et al. (2011). Identification of risk factors for autism spectrum disorders in tuberous sclerosis complex. Neurology, 76(11), 981–987. PubMedCrossRef

Ou, Z., Kang, S. H., Shaw, C. A., Carmack, C. E., White, L. D., Patel, A., et al. (2008). Bacterial artificial chromosome-emulation oligonucleotide arrays for targeted clinicalarray-comparative genomic hybridization analyses. Genetic Medicine, 10(4), 278–289. CrossRef

Petti, M., Samanich, J., Pan, Q., Huang, C. K., et al. (2011). Molecular characterization of an interstitial deletion of 1p31.3 in a patient with obesity and psychiatric illness and a review of the literature. American Journal of Medical Genetics, 155(4), 825–832. CrossRef

Phelan, M. C. (2008). Deletion 22q13.3 syndrome. Orphanet Journal of Rare Diseases, 3, 14. doi: 10.1186/1750-1172-3-14.

Piton, A., Michaud, J. L., Peng, H., Aradhya, S., et al. (2008). Mutations in the calcium-related gene IL1RAPL1 are associated with autism. Human Molecular Genetics, 17(24), 3965–3974. PubMedCrossRef

Reddy, K. S. (2005). Cytogenetic abnormalities and fragile-X syndrome in autism spectrum disorder. BMC Medical Genetics, 6, 3. PubMedCrossRef

Roid, G. H. (2003). The Stanford-Binet intelligence scale (5th ed.). Itasca: Riverside Publishing.

Ronald, A., & Hoekstra, R. A. (2011). Autism spectrum disorders and autistic traits: A decade of new twin studies. American Journal of Medical Genetics, 156(Part B), 255–274.

Rosser, J. (2011). Diagnostic yield of genetic testing in children diagnosed with autism spectrum disorders at a regional referral center. Clinical Pediatric. doi: 10.1177/0009922811406261.

Schaefer, G. B., & Mendelsohn, N. J. (2008). The professional practice and guidelines committee. Genetics in Medicine, 10(4), 301–305. PubMedCrossRef

Schopler, E., Reichler, R. J., DeVellis, R. F., & Daly, K. (1980). Toward objective classification of childhood autism: Childhood autism rating scale (CARS). Journal of Autism and Developmental Disorders, 10(1), 91–103. PubMedCrossRef

Sharp, A. J., Mefford, H. C., Li, K., Baker, C., et al. (2008). A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. Nature Genetics, 40(3), 322–328. PubMedCrossRef

Shen, Y., Dies, K. A., Holm, I. A., Bridgemohan, C., et al. (2010). Autism consortium clinical genetics/DNA diagnostics collaboration. Clinical genetic testing for patients with autism spectrum disorders. Pediatrics, 125(4), e727–e735.

Shinawi, M., Liu, P., Kang, S. H., Shen, J., et al. (2010). Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size. Journal of Medical Genetics, 47(5), 332–341. PubMedCrossRef

Sparrow, S., Balla, D., & Cicchetti, D. V. (1984). The Vineland adaptive behavior scales (Survey Form). Circle Pines, MN: American Guidance Service.

Terman, L. M., & Merrill, M. A. (1972). Stanford-binet intelligence scale (1972 norms ed.). Boston: Houghton Mifflin.

Thomas, J. A., Johnson, J., Peterson Kraai, T. L., Wilson, R., et al. (2003). Genetic and clinical characterization of patients with an interstitial duplication 15q11–q13, emphasizing behavioral phenotype and response to treatment. American Journal of Medical Genetics, 119A(2), 111–120. PubMedCrossRef

Thorndike, R., Hagen, E., & Sattler, J. (1986). The Stanford-binet intelligence scale (4th ed.). Chicago: Riverside Publishing.

Thorson, L., Bryke, C., Rice, G., Artzer, A., et al. (2010). Clinical and molecular characterization of overlapping interstitial Xp21–p22 duplications in two unrelated individuals. American Journal of Medical Genetics, 152A(4), 904–915. PubMedCrossRef

Van der Aa, N., Rooms, L., Vandeweyer, G., van den Ende, J., et al. (2009). Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome. European Journal of Medical Genetics, 52(2–3), 94–100. PubMed

von der Lippe, C., Rustad, C., Heimdal, K., & Rødningen, O. K. (2011). 15q11.2 microdeletion—Seven new patients with delayed development and/or behavioural problems. European Journal of Medical Genetics, 54(3), 357–360. PubMedCrossRef

Wechsler, D. (1989). Wechsler preschool and primary scale of intelligence—Revised. San Antonio: The Psychological Corporation.

Wechsler, D. (1991). The Wechsler intelligence scale for children (3rd ed.). San Antonio: The Psychological Corporation.

Wechsler, D. (2004). The Wechsler intelligence scale for children- (4th ed.). London: Pearson Assessment.

Weiss, L. A., Shen, Y., Korn, J. M., Arking, D. E., et al. (2008). Association between microdeletion and microduplication at 16p11.2 and autism. New England Journal of Medicine, 358(7), 667–675. PubMedCrossRef

Wester, U., Bondeson, M. L., Edeby, C., & Annerén, G. (2006). Clinical and molecular characterization of individuals with 18p deletion: a genotype-phenotype correlation. American Journal of Medical Genetics A, 140(11), 1164–1171. CrossRef

Yang, M. S., & Gill, M. (2007). A review of gene linkage, association and expression studies in autism and an assessment of convergent evidence. International Journal of Developmental Neuroscience, 25, 69–85. PubMedCrossRef

Titel: Diagnostic Yield of Chromosomal Microarray Analysis in an Autism Primary Care Practice: Which Guidelines to Implement?
Auteurs: Susan G. McGrew
Brittany R. Peters
Julie A. Crittendon
Jeremy Veenstra-VanderWeele
Publicatiedatum: 01-08-2012
Uitgeverij: Springer US
Gepubliceerd in: Journal of Autism and Developmental Disorders / Uitgave 8/2012
Print ISSN: 0162-3257
Elektronisch ISSN: 1573-3432
DOI: https://doi.org/10.1007/s10803-011-1398-3

Bohn Stafleu van Loghum

Tip

Swipe om te navigeren naar een ander artikel

Deel dit onderdeel of sectie (kopieer de link)

Abstract

Log in om toegang te krijgen

Andere artikelen Uitgave 8/2012

Exploring the Relationship Between Autism Spectrum Disorder and Epilepsy Using Latent Class Cluster Analysis

Brief Report: An Exploratory Study Comparing Diagnostic Outcomes for Autism Spectrum Disorders Under DSM-IV-TR with the Proposed DSM-5 Revision

Category Formation in Autism: Can Individuals with Autism Form Categories and Prototypes of Dot Patterns?

Anticipation of Action Intentions in Autism Spectrum Disorder

Do Planning and Visual Integration Difficulties Underpin Motor Dysfunction in Autism? A Kinematic Study of Young Children with Autism

A. Stalker: The One and Only Sam: A Story Explaining Idioms for Children with Asperger Syndrome and Other Communication Difficulties