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Molecular Autism
Published in: Molecular Autism 1/2013

Open Access 01-12-2013 | Review

DSM-5 and autism spectrum disorders (ASDs): an opportunity for identifying ASD subtypes

Authors: Rebecca Grzadzinski, Marisela Huerta, Catherine Lord

Published in: Molecular Autism | Issue 1/2013

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Abstract

The heterogeneous clinical presentations of individuals with autism spectrum disorders (ASDs) poses a significant challenge for sample characterization and limits the interpretability and replicability of research studies. The Diagnostic and Statistical Manual of Mental Disorders, 5th edition (DSM-5) diagnostic criteria for ASD, with its dimensional approach, may be a useful framework to increase the homogeneity of research samples. In this review, we summarize the revisions to the diagnostic criteria for ASD, briefly highlight the literature supporting these changes, and illustrate how DSM-5 can improve sample characterization and provide opportunities for researchers to identify possible subtypes within ASD.
Appendix
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Literature
1.
Charman T, Jones C, Pickles A, Simonoff E, Baird G, Happé F: Defining the cognitive phenotype of autism. Brain Res. 2011, 1380: 10-21.CrossRefPubMed
2.
Georgiades S, Szatmari P, Boyle M, Hanna S, Duku E, Zwaigenbaum L: Investigating phenotypic heterogeneity in children with autism spectrum disorder: a factor mixture modeling approach. J Child Psychol Psychiatry. 2013, 54: 206-215. 10.1111/j.1469-7610.2012.02588.x.CrossRefPubMed
3.
Hus V, Pickles A, Cook E, Risi S, Lord C: Using the autism diagnostic interview—revised to increase phenotypic homogeneity in genetic studies of autism. Biol Psychiatry. 2007, 61: 438-448. 10.1016/j.biopsych.2006.08.044.CrossRefPubMed
4.
Ingram D, Takahashi N, Miles J: Defining autism subgroups: a taxometric solution. J Autism Dev Disord. 2008, 38: 950-960. 10.1007/s10803-007-0469-y.CrossRefPubMed
5.
Malvy J, Barthélémy C, Damie D, Lenoir P, Bodier C, Roux S: Behaviour profiles in a population of infants later diagnosed as having autistic disorder. Eur Child Adolesc Psychiatry. 2004, 13: 115-122. 10.1007/s00787-004-0374-2.CrossRefPubMed
6.
Munson J, Dawson G, Sterling L, Beauchaine T, Zhou A, Koehler E: Evidence for latent classes of IQ in young children with autism spectrum disorder. Am Assoc Intellect Dev Disabil. 2008, 113: 439-452. 10.1352/2008.113:439-452.
7.
Snow A, Lecavalier L, Houts C: The structure of the Autism Diagnostic Interview-Revised: diagnostic and phenotypic implications. J Child Psychol Psychiatry. 2009, 50: 734-742. 10.1111/j.1469-7610.2008.02018.x.CrossRefPubMed
8.
Spiker D, Lotspeich L, Dimiceli S, Myers R, Risch N: Behavioral phenotypic variation in autism multiplex families: evidence for a continuous severity gradient. Am J Med Genet. 2002, 114: 129-136. 10.1002/ajmg.10188.CrossRefPubMed
9.
Tager-Flusberg H: Defining language phenotypes in autism. Clin Neurosci Res. 2006, 6: 219-224. 10.1016/j.cnr.2006.06.007.CrossRef
10.
Walker D, Thompson A, Zwaigenbaum L, Goldberg J, Bryson S, Mahoney W: Specifying PDD-NOS: a comparison of PDD-NOS, asperger syndrome, and autism. J Am Acad Child Adolesc Psychiatry. 2004, 43: 172-180. 10.1097/00004583-200402000-00012.CrossRefPubMed
11.
Lord C, Petkova E, Hus V, Gan W, Lu F, Martin D: A multisite study of the clinical diagnosis of different autism spectrum disorders. Arch Gen Psychiatry. 2011, 69: 306-313.PubMedCentralCrossRefPubMed
12.
Macintosh K, Dissanayake C: Annotation: the similarities and differences between autistic disorder and asperger’s disorder: a review of the empirical evidence. J Child Psychol Psychiatry. 2004, 45: 421-434. 10.1111/j.1469-7610.2004.00234.x.CrossRefPubMed
13.
Malhotra S, Gupta N: Childhood disintegrative disorder re-examination of the current concept. Eur Child Adolesc Psychiatry. 2002, 11: 108-114. 10.1007/s00787-002-0270-6.CrossRefPubMed
14.
Ozonoff S, South M, Miller J: DSM-IV-defined asperger syndrome: cognitive, behavioral and early history differentiation from high-functioning autism. Autism. 2000, 4: 29-46.
15.
Snow A, Lecavalier L: Comparing autism, PDD-NOS, and other developmental disabilities on parent-reported behavior problems: little evidence for ASD subtype validity. J Autism Dev Disord. 2011, 41: 302-310. 10.1007/s10803-010-1054-3.CrossRefPubMed
16.
Howlin P: Outcome in high-functioning adults with autism with and without early language delays: implications for the differentiation between autism and Asperger syndrome. J Autism Dev Disord. 2003, 33: 3-13. 10.1023/A:1022270118899.CrossRefPubMed
17.
Szatmari P, Bryson S, Duku E, Vaccarella L, Zwaigenbaum L, Bennett T: Similar developmental trajectories in autism and Asperger syndrome: from early childhood to adolescence. J Child Psychol Psychiatry. 2009, 50: 1459-1467. 10.1111/j.1469-7610.2009.02123.x.CrossRefPubMed
18.
Szatmari P, Bryson S, Boyle M, Streiner D, Duku E: Predictors of outcome among high functioning children with autism and Asperger syndrome. J Child Psychol Psychiatry. 2003, 44: 520-528. 10.1111/1469-7610.00141.CrossRefPubMed
19.
McPartland J, Reichow B, Vokmar F: Sensitivity and specificity of proposed DSM-5 diagnostic criteria for autism spectrum disorder. J Am Acad Child Adolesc Psychiatry. 2012, 51: 368-383. 10.1016/j.jaac.2012.01.007.PubMedCentralCrossRefPubMed
20.
Mandy W, Charman T, Skuse D: Testing the construct validity of proposed criteria for DSM-5 autism spectrum disorder. J Am Acad Child Adolesc Psychiatry. 2012, 51: 41-50. 10.1016/j.jaac.2011.10.013.CrossRefPubMed
21.
Huerta M, Bishop S, Duncan A, Hus V, Lord : Application of DSM-5 criteria for autism spectrum disorder to three samples of children with dsm-iv diagnoses of pervasive developmental disorders. Am J Psychiatry. 2012, 169: 1056-1064. 10.1176/appi.ajp.2012.12020276.CrossRefPubMed
22.
Frazier T, Youngstrom E, Speer L, Embacher R, Law P, Constantino J: Validation of proposed DSM-5 criteria for autism spectrum disorder. J Am Acad Child Adolesc Psychiatry. 2012, 51: 28-40. 10.1016/j.jaac.2011.09.021.PubMedCentralCrossRefPubMed
23.
Gotham K, Risi S, Pickles A, Lord C: The autism diagnostic observation schedule: revised algorithms for improved diagnostic validity. J Autism Dev Disord. 2007, 37: 613-627. 10.1007/s10803-006-0280-1.CrossRefPubMed
24.
Norris M, Lecavalier L, Edwards M: The structure of autism symptoms as measured by the autism diagnostic observation schedule. J Autism Dev Disord. 2012, 42: 1075-1086. 10.1007/s10803-011-1348-0.CrossRefPubMed
25.
Robertson J, Tanguay P, L’Ecuyer S, Sims A, Waltrip C: Domains of social communication handicap in autism spectrum disorder. J Am Acad Child Adolesc Psychiatry. 1999, 38: 738-745. 10.1097/00004583-199906000-00022.CrossRefPubMed
26.
Hartley S, Sikora D: Detecting autism spectrum disorder in child with intellectual disability: which DSM-IV-TR criteria are most useful?. Focus Autism Other Dev Disabil. 2006, 25: 85-97.CrossRef
27.
Lord C, Storoschuk S, Rutter M, Pickles A: Using the ADI-R to diagnose autism in preschool children. Infant Ment Health J. 1993, 14: 234-252. 10.1002/1097-0355(199323)14:3<234::AID-IMHJ2280140308>3.0.CO;2-F.CrossRef
28.
Lord C, Pickles A, McLennan J, Rutter M, Bregman J, Folstein S: Diagnosing autism: analyses of data from the autism diagnostic interview. J Autism Dev Disord. 1997, 25: 501-517.CrossRef
29.
Matson J, Neal D: Differentiating communication disorders and autism in children. Res Autism Spectr Disord. 2010, 4: 626-632. 10.1016/j.rasd.2009.12.006.CrossRef
30.
Solomon M, Olsen E, Niendam T, Ragland J, Yoon J, Minzenberg M: From lumping to splitting and back again: atypical social and language development in individuals with clinical-high-risk for psychosis, first episode schizophrenia, and autism spectrum disorders. Schizophr Res. 2011, 131: 146-151. 10.1016/j.schres.2011.03.005.PubMedCentralCrossRefPubMed
31.
Ben-Sasson A, Hen L, Fluss R, Cermak S, Engel-Yeger B, Gal E: A meta-analysis of sensory modulation symptoms in individuals with autism spectrum disorders. J Autism Dev Disord. 2009, 39: 1-11. 10.1007/s10803-008-0593-3.CrossRefPubMed
32.
Billstedt E, Gillberg IC, Gillberg C: Autism in adults: symptom patterns and early childhood predictors. Use of the DISCO in a community sample followed from childhood. J Child Psychol Psychiatry. 2007, 48: 1102-1110. 10.1111/j.1469-7610.2007.01774.x.CrossRefPubMed
33.
Leekam SR, Nieto C, Libby SJ, Wing L, Gould J: Describing the sensory abnormalities of children and adults with autism. J Autism Dev Disord. 2007, 37: 894-910. 10.1007/s10803-006-0218-7.CrossRefPubMed
34.
Tadevosyan-Leyfer O, Dowd M, Mankoski R, Winklowky B, Putnam S, McGrath L: A principal components analysis of the autism diagnostic interview-revised. J Am Acad Child Adolesc Psychiatry. 2003, 42: 864-872. 10.1097/01.CHI.0000046870.56865.90.CrossRefPubMed
35.
Dahlgren SO, Gillberg C: Symptoms in the first two years of life. A preliminary population study of infantile autism. Eur Arch Psychiatry Clin Neurosci. 1989, 238: 169-174. 10.1007/BF00451006.CrossRef
36.
Wiggins LD, Robins DL, Bakeman R, Adamson LB: Brief report: sensory abnormalities as distinguishing symptoms of autism spectrum disorders in young children. J Autism Dev Disord. 2009, 39: 1087-1091. 10.1007/s10803-009-0711-x.CrossRefPubMed
37.
Anderson D, Lord C, Risi S, DiLavore P, Shulman C, Thurm A: Patterns of growth in verbal abilities among children with autism spectrum disorder. J Consult Clin Psychol. 2007, 75: 594-604.CrossRefPubMed
38.
Gotham K, Bishop S, Hus V, Huerta M, Lund S, Buja A, Krieger A, Lord C: Exploring the relationship between anxiety and insistence on sameness in autism spectrum disorders. Autism Res. 2013, 6: 33-41. 10.1002/aur.1263.PubMedCentralCrossRefPubMed
39.
Baker A, Lane A, Angley M, Young R: The relationship between sensory processing patterns and behavioural responsiveness in autistic disorder: a pilot study. J Autism Dev Disord. 2008, 38: 867-875. 10.1007/s10803-007-0459-0.CrossRefPubMed
40.
Lane A, Young R, Baker A, Angley M: Sensory processing subtypes in autism: association with adaptive behavior. J Autism Dev Disord. 2010, 40: 112-122. 10.1007/s10803-009-0840-2.CrossRefPubMed
41.
Lord C, Risi S, DiLavore P, Shulman C, Thurm A, Pickles A: Autism from 2 to 9 years of age. Arch Gen Psychiatry. 2006, 63: 694-701. 10.1001/archpsyc.63.6.694.CrossRefPubMed
42.
Sheinkopf S, Siegal B: Home-based behavioral treatment of young children with autism. J Autism Dev Disord. 1998, 28: 15-23. 10.1023/A:1026054701472.CrossRefPubMed
43.
Dworzynski K, Ronald A, Bolton P, Happé F: How different are girls and boys above and below the diagnostic threshold for autism spectrum disorders?. J Am Acad Child Adolesc Psychiatry. 2012, 51: 788-797. 10.1016/j.jaac.2012.05.018.CrossRefPubMed
44.
Nicholas J, Charles J, Carpenter L, King L, Jenner W, Spratt E: Prevalence and characteristics of children with autism-spectrum disorders. Ann Epidemiol. 2008, 18: 130-136. 10.1016/j.annepidem.2007.10.013.CrossRefPubMed
45.
Szatmari P, Bartolucci G, Bremner R: Asperger's syndrome and autism: comparison of early history and outcome. Dev Med Child Neurol. 1989, 31: 709-720.CrossRefPubMed
46.
Wing L: Sex ratios in early childhood autism and related conditions. Psychiatry Res. 1981, 5: 129-137. 10.1016/0165-1781(81)90043-3.CrossRefPubMed
47.
Herman GE, Butter E, Enrile B, Pastore M, Prior TW, Sommer A: Increasing knowledge of PTEN germline mutations: two additional patients with autism and macrocephaly. Am J Med Genet. 2007, 143A: 589-593. 10.1002/ajmg.a.31619.CrossRefPubMed
48.
Muhle R, Trentacoste SV, Rapin I: The genetics of autism. Pediatrics. 2004, 113: 472-486. 10.1542/peds.113.5.e472.CrossRef
49.
Miles J, Takahashi S, Bagby P, Sahota D, Vaslow C, Wang R: Essential versus complex autism: definition of fundamental prognostic subtypes. Am J Med Genet. 2005, 135A: 171-180. 10.1002/ajmg.a.30590.CrossRef
50.
Munson J, Dawson G, Sterling L, Beauchaine T, Zhou A, Koehler E: Evidence for latent classes of iq in young children with autism spectrum disorder. Am J Ment Retard. 2008, 113: 439-452. 10.1352/2008.113:439-452.PubMedCentralCrossRefPubMed
51.
Joseph R, Tager-Flusberg H, Lord C: Cognitive profiles and social-communicative functioning in children with autism spectrum disorder. J Child Psychol Psychiatry. 2002, 43: 807-821. 10.1111/1469-7610.00092.PubMedCentralCrossRefPubMed
52.
Boucher J: Research review: structural language in autistic spectrum disorder – characteristics and causes. J Child Psychol Psychiatry. 2012, 53: 219-233. 10.1111/j.1469-7610.2011.02508.x.CrossRefPubMed
53.
Tager-Flusberg H, Paul R, Lord CE: Language and communication in autism. Handbook of autism and pervasive developmental disorder: Vol. 1. Edited by: Volkmar F, Paul R, Klin A, Cohen DJ. 2001, New York: Wiley, 335-364. 3
54.
Luyster R, Kadlec M, Carter A, Tager-Flusberg H: Language assessment and development in toddlers with autism spectrum disorders. J Autism Dev Disord. 2008, 38: 1426-1438. 10.1007/s10803-007-0510-1.CrossRefPubMed
55.
Gernsbacher M, Sauer E, Geye H, Schweigert E, Goldsmith H: Infant and toddler oral- and manual-motor skills predict later speech fluency in autism. J Child Psychol Psychiatry. 2008, 49: 43-50. 10.1111/j.1469-7610.2007.01820.x.PubMedCentralCrossRefPubMed
56.
De Fossé L, Hodge S, Makris N, Kennedy D, Caviness D, McGrath L: Language-association cortex asymmetry in autism and specific language impairment. Ann Neurol. 2004, 56: 757-766. 10.1002/ana.20275.CrossRefPubMed
57.
Bishop DVM: Overlaps between autism and language impairment: phenomimicry or shared etiology?. Behav Genet. 2010, 40: 618-629. 10.1007/s10519-010-9381-x.PubMedCentralCrossRefPubMed
58.
Pickles A, St. Clair M, Conti-Ramsden G: Communication and social deficits in relatives of individuals with SLI and relatives of individuals with ASD. J Autism Dev Disord. 2013, 43: 156-167. 10.1007/s10803-012-1556-2.PubMedCentralCrossRefPubMed
59.
Barger B, Campbell J, McDonough J: Prevalence and onset of regression within autism spectrum disorders: a meta-analytic review. J Autism Dev Disord. 2013, 43: 817-828. 10.1007/s10803-012-1621-x.CrossRefPubMed
60.
Fombonne E, Chakrabarti S: No evidence for a new variant of measles-mumps-rubella-induced autism. Pediatrics. 2001, 108: E58-10.1542/peds.108.4.e58.CrossRefPubMed
61.
Jones L, Campbell J: Clinical characteristics associated with language regression for children with autism spectrum disorders. J Autism Dev Disord. 2010, 40: 54-62. 10.1007/s10803-009-0823-3.CrossRefPubMed
62.
Parr J, Le Couteur A, Baird G, Rutter M, Pickles A, Fombonne E: Early developmental regression in autism spectrum disorder: evidence from an international multiplex sample. J Autism Dev Disord. 2011, 41: 332-340. 10.1007/s10803-010-1055-2.CrossRefPubMed
63.
Pickles A, Simonoff E, Conti-Ramsden G, Falcaro M, Simkin Z, Charman T: Loss of language in early development of autism and specific language impairment. J Child Psychol Psychiatry. 2009, 50: 843-852. 10.1111/j.1469-7610.2008.02032.x.CrossRefPubMed
64.
Ozonoff S, Losif A, Baguio F, Cook I, Moore Hill M, Hutman T: A prospective study of the emergence of early behavioral signs of autism. J Am Acad Child Adolesc Psychiatry. 2010, 49: 256-266.PubMedCentralPubMed
65.
Ozonoff S, Heung K, Byrd R, Hansen R, Hertz-Picciotto I: The onset of autism: patterns of symptom emergence in the first years of life. Autism Res. 2008, 1: 320-328. 10.1002/aur.53.PubMedCentralCrossRefPubMed
66.
Richler J, Luyster R, Risi S, Hsu W, Dawson G, Bernier R: Is there a ‘regressive phenotype’ of autism spectrum disorder associated with the measles-mumps-rubella vaccine? A CPEA study. J Autism Dev Disord. 2006, 36: 299-316. 10.1007/s10803-005-0070-1.CrossRefPubMed
67.
Rogers S, DiLalla D: Age of symptom onset in young children with pervasive developmental disorders. J Am Acad Child Adolesc Psychiatry. 1990, 29: 863-872. 10.1097/00004583-199011000-00004.CrossRefPubMed
68.
Hoshino Y, Kaneko M, Yashima Y, Kumashiro H, Volkmar FR, Cohen DJ: Clinical features of autistic children with setback course in their infancy. Jpn J Psychiatry Neurol. 1987, 41: 237-245.PubMed
69.
Tuchman R, Cuccaro M, Alessandri M: Autism and epilepsy: historical perspective. Brain Dev. 2010, 32: 709-718. 10.1016/j.braindev.2010.04.008.CrossRefPubMed
70.
Shumway S, Thurm A, Swedo S, Deprey L, Barnett L, Amaral D: Brief report: symptom onset patterns and functional outcomes in young children with autism spectrum disorders. J Autism Dev Disord. 2011, 41: 1727-1732. 10.1007/s10803-011-1203-3.PubMedCentralCrossRefPubMed
71.
Hus V, Taylor A, Lord C: Telescoping of caregiver report on the autism diagnostic interview – revised. J Child Psychol Psychiatry. 2011, 52: 753-760. 10.1111/j.1469-7610.2011.02398.x.PubMedCentralCrossRefPubMed
72.
Baird G, Charman T, Pickles A, Chandler S, Loucas T, Meldrum D: Regression, developmental trajectory and associated problems in disorders in the autism spectrum: the SNAP study. J Autism Dev Disord. 2008, 38: 1827-1836. 10.1007/s10803-008-0571-9.CrossRefPubMed
73.
SImonoff E, Pickles A, Charman T, Chandler S, Loucas T, Baird G: Psychiatric disorders in children with autism spectrum disorders: prevalence, comorbidity, and associated factors in a population-derived sample. J Am Acad Child Adolesc Psychiatry. 2008, 47: 921-929. 10.1097/CHI.0b013e318179964f.CrossRefPubMed
74.
Holtmann M, Bolte S, Poustka F: Attention deficit hyperactivity disorder symptoms in pervasive developmental disorders: association with autistic behavior domains and coexisting psychopathology. Psychopathology. 2007, 40: 172-177. 10.1159/000100007.CrossRefPubMed
75.
Gadow K, DeVincent C, Pomeroy J: ADHD symptom subtypes in children with pervasive developmental disorder. J Autism Dev Disord. 2006, 36: 271-283. 10.1007/s10803-005-0060-3.CrossRefPubMed
76.
Reiersen A, Constantino J, Grimmer M, Martin N, Todd R: Evidence for shared genetic influences on self-reported ADHD and autistic symptoms in young adult australian twins. Twin Res Hum Genet. 2008, 11: 579-585. 10.1375/twin.11.6.579.PubMedCentralCrossRefPubMed
77.
Ronald A, Simonoff E, Kuntsi J, Asherson P, Plomin R: Evidence for overlapping genetic influences on autistic and ADHD behaviours in a community twin sample. J Child Psychol Psychiatry. 2008, 49: 535-542. 10.1111/j.1469-7610.2007.01857.x.CrossRefPubMed
78.
Dworzynski K, Happé F, Bolton P, Ronald A: Relationship between symptom domains in autism spectrum disorders: a population based twin study. J Autism Dev Disord. 2009, 39: 1197-1210. 10.1007/s10803-009-0736-1.CrossRefPubMed
79.
Klin A, Saulnier C, Tsantsanis K, Volkmar F: Clinical evaluation in autism spectrum disorders: psychological assessment within a transdisciplinary framework. Handbook of autism and pervasive developmental disorders. Edited by: Volkmar F, Klin A, Paul R, Cohen D. 2005, New York: Wiley, 772-798. 3
80.
Saulnier C, Klin A: Brief report: social and communication abilities and disabilities in higher functioning individuals with autism and asperger syndrome. J Autism Dev Disord. 2007, 37: 788-793. 10.1007/s10803-006-0288-6.CrossRefPubMed
Metadata
Title
DSM-5 and autism spectrum disorders (ASDs): an opportunity for identifying ASD subtypes
Authors
Rebecca Grzadzinski
Marisela Huerta
Catherine Lord
Publication date
01-12-2013
Publisher
BioMed Central
Published in
Molecular Autism / Issue 1/2013
Electronic ISSN: 2040-2392
DOI
https://doi.org/10.1186/2040-2392-4-12

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