Erratum: Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions (Genetics in Medicine (2013) DOI: 10.1038/gim.2013.32);Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions

Genetics in Medicine

Volumn 15, Issue 5, 2013, Pages 399-407

  Schaefer, G Bradley ^a   Mendelsohn, Nancy J ^b  

^a UNIVERSITY OF ARKANSAS FOR MEDICAL SCIENCES   (United States)

^b CHILDREN S HOSPITALS AND CLINICS OF MINNESOTA   (United States)

Author keywords

Asperger syndrome; autism; diagnostic yield; pervasive developmental disorders; tiered evaluations

Indexed keywords

METHYL CPG BINDING PROTEIN 2; PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE;

ANEUPLOIDY; ARTICLE; AUTISM; CHROMOSOME ANALYSIS; CHROMOSOME REARRANGEMENT; CLINICAL FEATURE; COPY NUMBER VARIATION; CYTOGENETICS; DE LANGE SYNDROME; DIAGNOSTIC VALUE; DISORDERS OF MITOCHONDRIAL FUNCTIONS; FAMILY HISTORY; FOLLOW UP; FRAGILE X SYNDROME; GENE MUTATION; GENETIC COUNSELING; GENETIC SCREENING; HAPPY PUPPET SYNDROME; HUMAN; MEDICAL HISTORY; MICROARRAY ANALYSIS; NEUROIMAGING; PATIENT REFERRAL; PHENOTYPE; PHENYLKETONURIA; PRACTICE GUIDELINE; PRADER WILLI SYNDROME; RETT SYNDROME; SANFILIPPO SYNDROME; SINGLE NUCLEOTIDE POLYMORPHISM; SMITH LEMLI OPITZ SYNDROME; SMITH MAGENIS SYNDROME; SOCIALIZATION; SOTOS SYNDROME; SYNDROME CHARGE;

EID: 84877264570     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2013.52     Document Type: Erratum

References (76)

1. El-Fishawy P, State MW. The genetics of autism: key issues, recent findings, and clinical implications. Psychiatr Clin North Am 2010;33:83-105.
2. Geschwind DH. Genetics of autism spectrum disorders. Trends Cogn Sci (Regul Ed) 2011;15:409-416.
3. Caglayan AO. Genetic causes of syndromic and non-syndromic autism. Dev Med Child Neurol 2010;52:130-138.
4. Chakrabarti S, Fombonne E. Pervasive developmental disorders in preschool children. JAMA 2001;285:3093-3099.
5. Icasiano F, Hewson P, Machet P, Cooper C, Marshall A. Childhood autism spectrum disorder in the Barwon region: a community based study. J Paediatr Child Health 2004;40:696-701.
6. Lauritsen MB, Pedersen CB, Mortensen PB. Effects of familial risk factors and place of birth on the risk of autism: a nationwide register-based study. J Child Psychol Psychiatry 2005;46:963-971.
7. Simonoff E. Genetic counseling in autism and pervasive developmental disorders. J Autism Dev Disord 1998;28:447-456.
8. Constantino JN, Zhang Y, Frazier T, Abbacchi AM, Law P. Sibling recurrence and the genetic epidemiology of autism. Am J Psychiatry 2010;167:1349-1356.
9. Ozonoff S, Young GS, Carter A, et al. Recurrence risk for autism spectrum disorders: a Baby Siblings Research Consortium study. Pediatrics 2011;128:e488-e495.
10. Butler MG, Dasouki MJ, Zhou XP, et al. Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations. J Med Genet 2005;42: 318-321.
11. Clifford S, Dissanayake C, Bui QM, Huggins R, Taylor AK, Loesch DZ. Autism spectrum phenotype in males and females with fragile X full mutation and premutation. J Autism Dev Disord 2007;37:738-747.
12. Erlandson A, Hagberg B. MECP2 abnormality phenotypes: clinicopathologic area with broad variability. J Child Neurol 2005;20:727-732.
13. Morrow JD, Whitman BY, Accardo PJ. Autistic disorder in Sotos syndrome: a case report. Eur J Pediatr 1990;149:567-569.
14. Park JP, Moeschler JB, Davies WS, Patel PI, Mohandas TK. Smith-Magenis syndrome resulting from a de novo direct insertion of proximal 17q into 17p11.2. Am J Med Genet 1998;77:23-27.
15. Pearl PL, Gibson KM, Acosta MT, et al. Clinical spectrum of succinic semialdehyde dehydrogenase deficiency. Neurology 2003;60:1413-1417.
16. Chudley AE, Gutierrez E, Jocelyn LJ, Chodirker BN. Outcomes of genetic evaluation in children with pervasive developmental disorder. J Dev Behav Pediatr 1998;19:321-325.
17. Steiner CE, Guerreiro MM, Marques-de-Faria AP. Genetic and neurological evaluation in a sample of individuals with pervasive developmental disorders. Arq Neuropsiquiatr 2003;61(2A):176-180.
18. Challman TD, Barbaresi WJ, Katusic SK, Weaver A. The yield of the medical evaluation of children with pervasive developmental disorders. J Autism Dev Disord 2003;33:187-192.
19. Kosinovsky B, Hermon S, Yoran-Hegesh R, et al. The yield of laboratory investigations in children with infantile autism. J Neural Transm 2005;112:587-596.
20. Battaglia A, Carey JC. Etiologic yield of autistic spectrum disorders: a prospective study. Am J Med Genet C Semin Med Genet 2006;142C:3-7.
21. Abdul-Rahman OA, Hudgins L. The diagnostic utility of a genetics evaluation in children with pervasive developmental disorders. Genet Med 2006;8:50-54.
22. Roesser J. Diagnostic yield of genetic testing in children diagnosed with autism spectrum disorders at a regional referral center. Clin Pediatr (Phila) 2011;50:834-843.
23. Lathe R. Fragile X and autism. Autism 2009;13:194-197.
24. Reddy KS. Cytogenetic abnormalities and fragile-X syndrome in autism spectrum disorder. BMC Med Genet 2005;6:3.
25. Shevell MI, Majnemer A, Rosenbaum P, Abrahamowicz M. Etiologic yield of autistic spectrum disorders: a prospective study. J Child Neurol 2001;16:509-512.
26. Weidmer-Mikhail E, Sheldon S, Ghaziuddin M. Chromosomes in autism and related pervasive developmental disorders: a cytogenetic study. J Intellect Disabil Res 1998;42(Pt 1):8-12.
27. Vorstman JA, Staal WG, van Daalen E, van Engeland H, Hochstenbach PF, Franke L. Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism. Mol Psychiatry 2006;11:1,18-28.
28. Manning M, Hudgins L; Professional Practice and Guidelines Committee. Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities. Genet Med 2010;12:742-745.
29. Miller DT, Adam MP, Aradhya S, et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet 2010;86:749-764.
30. Coulter ME, Miller DT, Harris DJ, et al. Chromosomal microarray testing influences medical management. Genet Med 2011;13:770-776.
31. Sebat J, Lakshmi B, Malhotra D, et al. Strong association of de novo copy number mutations with autism. Science 2007;316:445-449.
32. Rosenfeld JA, Ballif BC, Torchia BS, et al. Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders. Genet Med 2010;12:694-702.
33. Schaefer GB, Starr L, Pickering D, Skar G, Dehaai K, Sanger WG. Array comparative genomic hybridization findings in a cohort referred for an autism evaluation. J Child Neurol 2010;25:1498-1503.
34. Shen Y, Dies KA, Holm IA, et al.; Autism Consortium Clinical Genetics/DNA Diagnostics Collaboration. Clinical genetic testing for patients with autism spectrum disorders. Pediatrics 2010;125:e727-e735.
35. Bremer A, Giacobini M, Eriksson M, et al. Copy number variation characteristics in subpopulations of patients with autism spectrum disorders. Am J Med Genet B Neuropsychiatr Genet 2011;156:115-124.
36. McGrew SG, Peters BR, Crittendon JA, Veenstra-Vanderweele J. Diagnostic yield of chromosomal microarray analysis in an autism primary care practice: which guidelines to implement? J Autism Dev Disord 2012;42:1582-1591.
37. Betancur C. Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting. Brain Res 2011;1380:42-77.
38. Eichler EE, Zimmerman AW. A hot spot of genetic instability in autism. N Engl J Med 2008;359(16):1685-1699.
39. Kumar RA, KaraMohamed S, Sudi J, et al. Recurrent 16p11.2 microdeletions in autism. Hum Mol Genet 2008;17:628-638.
40. Weiss LA, Shen Y, Korn JM, et al.; Autism Consortium. Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med 2008;358:667-675.
41. Walsh KM, Bracken MB. Copy number variation in the dosage-sensitive 16p11.2 interval accounts for only a small proportion of autism incidence: a systematic review and meta-analysis. Genet Med 2011;13:377-384.
42. Jacquemont ML, Sanlaville D, Redon R, et al. Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders. J Med Genet 2006;43:843-849.
43. International Standards for Cytogenomics Arrays Consortium. https://www. iscaconsortium.org.
44. UCSC Genome Bioinformatics. http://genome.ucsc.edu.
45. DECIPHER v5.1. http://decipher.sanger.ac.uk.
46. Database of Genomic Variants. http://projects.tcag.ca/variation.
47. Hatton DD, Sideris J, Skinner M, et al. Autistic behavior in children with fragile X syndrome: prevalence, stability, and the impact of FMRP. Am J Med Genet A 2006;140A:1804-1813.
48. Watson MS, Leckman JF, Annex B, et al. Fragile X in a survey of 75 autistic males. N Engl J Med 1984;310:1462.
49. Cohen IL, Sudhalter V, Pfadt A, Jenkins EC, Brown WT, Vietze PM. Why are autism and the fragile-X syndrome associated? Conceptual and methodological issues. Am J Hum Genet 1991;48:195-202.
50. Hammer S, Dorrani N, Dragich J, Kudo S, Schanen C. The phenotypic consequences of MECP2 mutations extend beyond Rett syndrome. Ment Retard Dev Disabil Res Rev 2002;8:94-98.
51. Vourc'h P, Bienvenu T, Beldjord C, et al. No mutations in the coding region of the Rett syndrome gene MECP2 in 59 autistic patients. Eur J Hum Genet 2001;9:556-558.
52. Beyer KS, Blasi F, Bacchelli E, Klauck SM, Maestrini E, Poustka A; International Molecular Genetic Study of Autism Consortium (IMGSAC). Mutation analysis of the coding sequence of the MECP2 gene in infantile autism. Hum Genet 2002;111:305-309.
53. Carney RM, Wolpert CM, Ravan SA, et al. Identification of MeCP2 mutations in a series of females with autistic disorder. Pediatr Neurol 2003;28:205-211.
54. Zappella M, Meloni I, Longo I, et al. Study of MECP2 gene in Rett syndrome variants and autistic girls. Am J Med Genet B Neuropsychiatr Genet 2003;119B:102-107.
55. Lam CW, Yeung WL, Ko CH, et al. Spectrum of mutations in the MECP2 gene in patients with infantile autism and Rett syndrome. J Med Genet 2000;37:E41.
56. Herman GE, Henninger N, Ratliff-Schaub K, Pastore M, Fitzgerald S, McBride KL. Genetic testing in autism: how much is enough? Genet Med 2007;9:268-274.
57. Schaefer GB, Lutz RE. Diagnostic yield in the clinical genetic evaluation of autism spectrum disorders. Genet Med 2006;8:549-556.
58. Young DJ, Bebbington A, Anderson A, et al. The diagnosis of autism in a female: could it be Rett syndrome? Eur J Pediatr 2008;167:661-669.
59. Psoni S, Sofocleous C, Traeger-Synodinos J, Kitsiou-Tzeli S, Kanavakis E, Fryssira-Kanioura H. Phenotypic and genotypic variability in four males with MECP2 gene sequence aberrations including a novel deletion. Pediatr Res 2010;67:551-556.
60. Ramocki MB, Peters SU, Tavyev YJ, et al. Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome. Ann Neurol 2009;66:771-782.
61. Goffin A, Hoefsloot LH, Bosgoed E, Swillen A, Fryns JP. PTEN mutation in a family with Cowden syndrome and autism. Am J Med Genet 2001;105:521-524.
62. Stein MT, Elias ER, Saenz M, Pickler L, Reynolds A. Autistic spectrum disorder in a 9-year-old girl with macrocephaly. J Dev Behav Pediatr 2010;31:632-634.
63. Varga EA, Pastore M, Prior T, Herman GE, McBride KL. The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly. Genet Med 2009;11:111-117.
64. McBride KL, Varga EA, Pastore MT, et al. Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly. Autism Res 2010;3:137-141.
65. Buxbaum JD, Cai G, Chaste P, et al. Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly. Am J Med Genet B Neuropsychiatr Genet 2007;144B:484-491.
66. Zecavati N, Spence SJ. Neurometabolic disorders and dysfunction in autism spectrum disorders. Curr Neurol Neurosci Rep 2009;9:129-136.
67. Baieli S, Pavone L, Meli C, Fiumara A, Coleman M. Autism and phenylketonuria. J Autism Dev Disord 2003;33:201-204.
68. Wraith JE, Danks DM, Rogers JG. Mild Sanfilippo syndrome: a further cause of hyperactivity and behavioural disturbance. Med J Aust 1987;147:450-451.
69. Haas RH. Autism and mitochondrial disease. Dev Disabil Res Rev 2010;16:144-153.
70. Weissman JR, Kelley RI, Bauman ML, et al. Mitochondrial disease in autism spectrum disorder patients: a cohort analysis. PLoS ONE 2008;3:e3815.
71. Wilder RT, Flick RP, Sprung J, et al. Early exposure to anesthesia and learning disabilities in a population-based birth cohort. Anesthesiology 2009;110:796-804.
72. Sprung J, Flick RP, Katusic SK, et al. Attention-deficit/hyperactivity disorder after early exposure to procedures requiring general anesthesia. Mayo Clin Proc 2012;87:120-129.
73. Boddaert N, Zilbovicius M, Philipe A, et al. MRI findings in 77 children with nonsyndromic autistic disorder. PLoS ONE 2009;4:e4415.
74. Schaefer GB, Mendelsohn NJ. Genetics evaluation for the etiologic diagnosis of autism spectrum disorders. Genet Med 2008;10:4-12.
75. Mefford HC, Batshaw ML, Hoffman EP. Genomics, intellectual disability, and autism. N Engl J Med 2012;366:733-743.
76. Schaefer GB, Mendelsohn NJ; Professional Practice and Guidelines Committee. Clinical genetics evaluation in identifying the etiology of autism spectrum disorders. Genet Med 2008;10:301-305.