Journal of Autism and Developmental Disorders

, Volume 47, Issue 9, pp 2783–2794 | Cite as

A Prospective Study of the Concordance of DSM-IV and DSM-5 Diagnostic Criteria for Autism Spectrum Disorder

  • Micah O. Mazurek
  • Frances Lu
  • Heather Symecko
  • Eric Butter
  • Nicole M. Bing
  • Rachel J. Hundley
  • Marie Poulsen
  • Stephen M. Kanne
  • Eric A. Macklin
  • Benjamin L. Handen
Original Paper

Abstract

The transition from DSM-IV to DSM-5 criteria for autism spectrum disorder (ASD) sparked considerable concern about the potential implications of these changes. This study was designed to address limitations of prior studies by prospectively examining the concordance of DSM-IV and final DSM-5 criteria on a consecutive sample of 439 children referred for autism diagnostic evaluations. Concordance and discordance were assessed using a consistent diagnostic battery. DSM-5 criteria demonstrated excellent overall specificity and good sensitivity relative to DSM-IV criteria. Sensitivity and specificity were strongest for children meeting DSM-IV criteria for autistic disorder, but poor for those meeting criteria for Asperger’s disorder and pervasive developmental disorder. Higher IQ, older age, female sex, and less pronounced ASD symptoms were associated with greater discordance.

Keywords

Autism spectrum disorder DSM-5 Concordance Sensitivity Specificity 

Introduction

The diagnostic classification of autism has changed substantially since its initial inclusion into the Diagnostic and Statistical Manual of Mental Disorders (DSM). Although clinical accounts of autism were first published in the 1940s (Asperger 1944; Asperger and Frith 1991; Kanner 1943), the diagnosis was not introduced into the DSM until its third edition [DSM-III, (American Psychiatric Association 1980)]. In the years following, the diagnostic criteria for autism have changed considerably with each major DSM revision. For example, DSM-III contained separate diagnostic categories for “infantile autism” and “childhood onset pervasive developmental disorder,” which differed both in type and number of criteria. Infantile autism was characterized by age of onset before 30 months, pervasive lack of responsiveness to other people, gross deficits in language development, peculiar speech patterns (e.g., echolalia), and bizarre responses to the environment (e.g., resistance to change, peculiar interest in or attachments to animate or inanimate objects). In contrast, childhood onset pervasive developmental disorder criteria included later age of onset, impairment in social relationships, and at least three out of seven examples of bizarre responses to the environment. In DSM-III-R (American Psychiatric Association 1987), the criteria were changed to represent a triadic symptom structure approach for “autistic disorder,” as well as an option for the less specific diagnosis of “pervasive developmental disorder, not otherwise specified (PDD NOS).” The number of diagnostic categories was expanded in DSM-IV to include Asperger’s disorder, childhood disintegrative disorder, and Rett disorder (in addition to autistic disorder and PDD NOS) (American Psychiatric Association 1994).

The addition of Asperger’s disorder as a separate diagnostic category was intended to allow classification of individuals with symptoms of autism who demonstrated a later age of onset and average language and intellectual functioning. However, in the ensuing years, a number of concerns were raised about the utility, etiologic independence, and reliability of both Asperger’s disorder and PDD NOS subcategory criteria (Frith 2004; Miller and Ozonoff 2000; Ozonoff 2012a, b). In response, autism classification in DSM-5 underwent even greater changes (American Psychiatric Association 2013), including shifting from triadic to dyadic symptom grouping and merging previous subcategories to a single “autism spectrum disorder (ASD)” diagnostic category. Other changes included the addition of sensory abnormalities within the repetitive behavior domain, the specification that symptoms may be counted if present currently or by history, removal of language delay criteria, and the clarification that symptoms should occur early in development but may not fully manifest until later in life.

These diagnostic changes have prompted debate and controversy among clinicians, researchers, and community members (Buxbaum and Baron-Cohen 2013; Grzadzinski et al. 2013; Halfon and Kuo 2013; Ritvo and Ritvo 2013; Volkmar and Reichow 2013). At the forefront of this debate has been the concern that individuals may be excluded from classification due to reduced sensitivity, thereby directly influencing prevalence estimates and eligibility for services. Changes in diagnostic classification (i.e., definitions of caseness) have obvious implications for estimating incidence and prevalence. In fact, it is clear that estimates of autism prevalence over time have been greatly influenced by changes in our diagnostic practices. Historically, broadening the diagnostic criteria to include individuals without language impairment and with more subtle symptom presentation, greater numbers of individuals were “counted” as cases in prevalence estimates (Fombonne 2003; Kielinen et al. 2000). For example, in a 2009 study of prevalence of autism in California, one-fourth of the increase in prevalence between 1992 and 2005 could be attributed to changes in diagnostic practice (King and Bearman 2009). Similar conclusions were reached by Saracino et al. in their review and analysis of trends in autism surveillance and prevalence (Saracino et al. 2010). Some have argued that the changes associated with DSM-5 resulted in more stringent diagnostic criteria, which may have the result of excluding individuals who may have met DSM-IV criteria, particularly for Asperger’s disorder and PDD NOS (Smith et al. 2015). However, others argue that these changes should not result in a significant loss of sensitivity (Huerta et al. 2012; Lord and Bishop 2015).

Studies of DSM-IV and DSM-5 Criteria for ASD

Since the release of the new draft criteria for ASD, a number of studies have been conducted to examine the concordance between these two diagnostic systems. In a recent systematic review, Smith et al. (2015) reported on 25 studies published between 2011 and 2014 examining DSM-IV and DSM-5 criteria for ASD. Based on the results of this review, though with significant caveats, the authors concluded that a substantial percentage of individuals with DSM-IV diagnoses would no longer meet criteria for ASD under DSM-5, with a greater likelihood of losing diagnosis among those with PDD NOS and Asperger’s disorder, and among those with an IQ greater than 70 (Smith et al. 2015). Kulage et al. reported similar conclusions based on a meta-analysis of studies published between 2011 and 2013 (Kulage et al. 2014).

Studies to date are significantly limited in that they have reported on early drafts of DSM-5 criteria, not final published criteria, and most have been conducted using retrospective methods. Despite variations in methodology, most of these studies of draft criteria reported a loss of sensitivity in DSM-5 relative to DSM-IV criteria. In retrospective studies applying draft DSM-5 criteria to previously collected data, a substantial percentage of children meeting DSM-IV criteria for an ASD failed to meet draft DSM-5 criteria across most studies (ranging from 37 to 54% across samples) (Matson et al. 2012; Mattila et al. 2011; McPartland et al. 2012). However, some evidence suggested that a higher percentage of individuals (ranging from 65 to 91% across samples) would continue to meet criteria for ASD based on DSM-5 than reported in the abovementioned studies (Huerta et al. 2012). Across studies of draft criteria, sensitivity was markedly lower among those with PDD NOS (Huerta et al. 2012; Matson et al. 2012; McPartland et al. 2012; Taheri and Perry 2012) and for those with higher IQ (McPartland et al. 2012) when the new DSM-5 criteria were applied.

Only a few prospective studies have been conducted, but their results appear similar when examining proposed/draft criteria. For example, Gibbs et al. (2012) examined data for 132 children seen for an autism evaluation. In this study, clinicians reported final ASD diagnosis based on DSM-IV, and diagnosis based on the draft DSM-5 criteria (completed after the DSM-IV diagnostic decision was reached). The results indicated that 23.4% of children meeting DSM-IV criteria for an ASD did not meet DSM-5 draft criteria, with a higher likelihood of discordance among those with PDD NOS diagnoses (Gibbs et al. 2012). Similarly, Young and Rodi (2014) examined DSM-IV and draft DSM-5 criteria in a clinically referred sample. Based on clinician checklist, the results indicated that 43% of those with DSM-IV diagnoses did not meet draft criteria for DSM-5, and that individuals with PDD NOS were least likely to meet DSM-5 criteria (Young and Rodi 2014). Finally, Harstad et al. (2015) examined DSM concordance among a sample of 227 clinically referred children. Clinicians completed symptom count checklists for both DSM-IV-TR criteria and draft DSM-5 criteria as part of a clinical quality improvement initiative, and data were examined retrospectively. Results indicated that 23% of children who met DSM-IV criteria for an ASD did not meet DSM-5 criteria, while all of those who met DSM-5 criteria also met DSM-IV criteria. Children with PDD NOS and younger children were less likely to meet DSM-5 criteria (Harstad et al. 2015). In each of these prospective studies, the order of checklist was fixed (i.e., DSM-IV decisions were made first).

To date, only two studies have reported concordance between DSM-IV and final DSM-5 criteria, and neither used a prospective design. Kim et al. (2014) retrospectively examined diagnostic data collected on a sample of 292 children (Kim et al. 2014), applying both DSM-IV and DSM-5 diagnostic criteria. In that study, 89% of children meeting DSM-IV criteria for an ASD continued to meet based on final DSM-5 criteria. Similarly, Maenner et al. (2014) retrospectively examined population-based surveillance data from the Autism and Developmental Disabilities Monitoring Network collected from 2006 to 2008 to examine the impact of new criteria on prevalence estimates. The results indicated that 81.2% of 6577 children who met DSM-IV criteria continued to meet criteria under DSM-5, suggesting that prevalence estimates may be lower under the new criteria (Maenner et al. 2014).

Limitations of Prior Studies

As previously noted, most studies conducted on DSM-IV and DSM-5 concordance have been limited by methodological issues. First, most studies have been conducted using different versions of draft, not final, DSM-5 criteria (Frazier et al. 2012; Gibbs et al. 2012; Harstad et al. 2015; Huerta et al. 2012; Matson et al. 2012; Mattila et al. 2011; McPartland et al. 2012; Taheri and Perry 2012; Young and Rodi 2014). This is an important consideration, given that the proposed criteria were refined in several ways prior to final publication. Many of these changes allow for capturing a broader range of symptom presentation (e.g., replacing “and” with “or;” adding more examples of symptoms, allowing for capturing symptoms that are manifested either currently or by history, etc.). As a result, fewer children were likely to meet criteria based on application of the draft criteria than on the final published criteria. Thus, it is most important and relevant to current clinical practice and policy to consider concordance of final DSM criteria.

Secondly, the majority of previous studies have retrospectively applied DSM-5 criteria to data collected on individuals diagnosed with ASD according to DSM-IV criteria. This is problematic in several ways. Because DSM-5 criteria contain symptoms that were not included in DSM-IV (i.e., sensory difficulties), clinicians using DSM-IV criteria may not have fully assessed these symptoms, meaning that previously collected diagnostic data may not be sufficient to determine their occurrence. Moreover, some symptom definitions have been expanded to capture a wider range of possible presentation across age and cognitive level. Again, previously collected data may not allow for examination of this fuller range of possible behaviors. Finally, children who did not meet criteria for DSM-IV, but who may meet criteria for DSM-5, were not included in these analyses. Therefore, prospective studies are needed to determine the true concordance/discordance of final DSM criteria.

Current Study

To address these limitations, the current study was designed to prospectively examine the concordance of final DSM-IV and DSM-5 criteria on a large consecutive sample of children referred for autism diagnostic evaluations. Using this approach, the question of concordance and discordance could be directly tested among a complete sample assessed using the same diagnostic battery, and including those not meeting criteria based on either DSM-IV or DSM-5. In addition, the order in which the DSM checklists were completed was randomly assigned, thereby controlling for potential order effects. The following hypotheses were tested: (1) DSM-5 criteria would have good specificity but poor sensitivity compared to DSM-IV criteria, and (2) higher intellectual ability would be associated with greater DSM-IV/DSM-5 discordance. A secondary research aim was to examine whether additional clinical features would be associated with DSM-IV/DSM-5 discordance.

Methods

Participants and Procedures

The sample included 439 children and adolescents who received a diagnostic evaluation at one of six autism centers affiliated with the Autism Treatment Network (ATN): Children’s Hospital Los Angeles, Cincinnati Children’s Hospital Medical Center, Nationwide Children’s Hospital, University of Missouri, University of Pittsburgh, and Vanderbilt University Medical Center. The ATN is a North American multi-site network focusing on best-practice in diagnosis and medical care for children with ASD. Each ATN site follows a standard diagnostic process, including records review, clinical interview, Autism Diagnostic Observation Schedule—2nd Edition (ADOS-2), as well as cognitive and adaptive assessment when warranted. Additional measures deemed necessary by the diagnostic team are also administered to aid in diagnostic determination. The current study was approved by the Institutional Review Board at each site. Eligibility criteria included referral for an autism diagnostic evaluation and child age (between 2 years and 17 years, 11 months). Families meeting eligibility criteria were recruited for participation prior to their child’s diagnostic evaluation and informed consent was obtained prior to participation. Recruitment and enrollment continued until the target sample size was achieved. The final sample included children who met DSM-IV and/or DSM-5 criteria for ASD as well as children who did not meet criteria for ASD according to either version. Participants ranged in age from 2 to 17.7 years (M = 7.1 years, SD = 4.2 years). The majority of the sample was male (79%) and Caucasian (78%), and the majority of primary caregivers had received some post-secondary education (65%).

Following informed consent, each child was administered a standard diagnostic battery (described above). After all diagnostic assessment measures were completed and sufficient information was collected to inform diagnostic determination, clinicians completed both a DSM-IV and a DSM-5 diagnostic checklist. The order in which the diagnostic checklists were completed was randomized in blocks of two, stratified by site. The majority of cases (54.2%) were assessed by a psychologist, 4.8% were assessed by a physician (i.e., developmental behavioral pediatrician, neurologist, pediatrician, or psychiatrist), and 41% were assessed by an interdisciplinary team (i.e., teams comprised various combinations of psychologists, physicians, speech language pathologists, occupational therapists, and other health care professionals).

Measures

Demographics

Primary caregivers completed a demographic questionnaire developed for the current study, which included information about child age, sex, ethnicity, race, caregiver education level, and household income.

Autism Symptom Severity

The Autism Diagnostic Observation Schedule—2nd Edition (ADOS-2) (Lord et al. 2012) was administered as part of the standard diagnostic battery. The ADOS-2 is a standardized, semi-structured observational assessment of behavior in the areas of communication, social interaction, and repetitive behaviors and restricted interests. The measure is scored using a diagnostic algorithm providing clinical cut-off values for ASD diagnoses. One of five modules is administered based on the individual’s age and verbal ability. Autism symptom severity was assessed using the 10-point ADOS-2 Comparison Score (CSS) (Esler et al. 2015; Gotham et al. 2009; Hus and Lord 2014). The Comparison Score has been standardized to account for individual characteristics, including age and language level. The continuous 10-point metric provides an index of overall autism severity, with higher scores indicating greater severity.

Intellectual Ability

Intelligence (IQ) was assessed using a range of measures across sites, depending on the child’s age and ability to participate in testing. Measures included the Stanford Binet Scales of Intelligence—5th Edition (28%) (Roid 2003), the Wechsler Intelligence Scale for Children—Fourth Edition (5%) (Wechsler 2003), the Wechsler Intelligence Scale for Children—Fifth Edition (8%) (Wechsler 2014), the Wechsler Preschool and Primary Scale of Intelligence—Third Edition (3%) (Wechsler 2002), the Wechsler Abbreviated Scale of Intelligence—Second Edition (9%) (Wechsler 2011), the Differential Ability Scales, 2nd Edition (4%) (Elliot 2007), the Bayley Scales of Infant and Toddler Development—Third Edition (2%) (Bayley 2006), or the Mullen Scales of Early Learning (MSEL, 18%) (Elliot 2007). For those receiving the MSEL, the Early Learning Composite Standard Score was used as a measure of Full Scale IQ. Eight percent (n = 37) of the sample was administered a measure of nonverbal intelligence, the Leiter International Performance Scale—Third Edition, (Roid et al. 2013), therefore a Full Scale IQ score was not available for this subsample. Finally, cognitive testing was unable to be completed for 14% of the sample (n = 60) due to difficulties participating or understanding of task demands. Thus, valid Full Scale IQ scores were available for 342 children (78% of the total sample).

Emotional and Behavioral Functioning

The Child Behavior Checklist (CBCL) (Achenbach and Rescorla 2001) was administered as a measure of overall emotional and behavioral problems. The CBCL is a parent-report questionnaire on which items are rated on a 3-point scale (ranging from Not True to Very True). Raw scores and T-scores are available for a Total Problems scale, Internalizing and Externalizing composite scales, and more specific summary and empirically derived syndrome scales. For the current study, the Internalizing and Externalizing T-Scores were used as overall measures of internalizing and externalizing behavior problems.

The Aberrant Behavior Checklist (ABC) (Aman and Singh 1986) was administered as a measure of specific challenging and stereotyped behaviors. The ABC is a 58-item caregiver-report measure developed specifically for individuals with developmental disabilities. The ABC provides information about current behavioral functioning within five empirically derived subscales: Irritability, Social Withdrawal, Stereotypic Behavior, Hyperactivity/Noncompliance, and Inappropriate Speech.

DSM-IV and DSM-5 Checklists

As noted previously, clinicians completed both a DSM-IV and DSM-5 checklist for each participant (with randomized order of completion). The checklists were developed through the ATN to collect diagnostic determination information at the criterion- and symptom-level. Each checklist follows the wording and structure of final DSM criteria (American Psychiatric Association 2000, 2013), including symptom lists and groupings, and requires the clinician to rate each criterion.

The DSM-IV checklist contains 12 symptoms grouped in three areas: (A) Qualitative Impairment in Social Interaction (four symptoms), (B) Qualitative Impairments in Communication (four symptoms), and (C) Restricted, Repetitive and Stereotyped Patterns of Behavior, Interests and Activities (four symptoms). For each symptom, the clinician indicates whether it is “present” or “absent,” consistent with DSM-IV descriptions. Additional checklist sections include impairment (“yes” or “no”), presence of delays or atypical functioning in social interaction, language, and symbolic play (each rated as “present” or “absent”), and history of clinically significant delays in language and cognitive and/or adaptive skills (each rated as “present” or “absent”). The checklist concludes with a final determination of whether the child meets criteria for autistic disorder, Asperger’s disorder, or PDD NOS.

By contrast, the DSM-5 checklist contains seven symptoms grouped in two areas: (A) Social Communication (three symptoms), and (B) Restricted and Repetitive Behaviors (four symptoms). For each symptom, the clinician indicates whether it is “absent,”present by history,” or “currently present,” consistent with DSM-5 descriptions (symptoms are considered “present” if they are either present by history or currently present). Additional checklist sections include presence of symptoms in the early developmental period (“present” or “absent”), and impairment (“present” or “absent”). The clinician then denotes the final determination of whether the child meets criteria for autism spectrum disorder. If ASD is diagnosed, the checklist also includes severity ratings for both social communication and restricted and repetitive behavior (1 through 3).

Diagnostic Determination

Additional information regarding final diagnoses was also collected using a clinician-completed form created for the current study. Data included composition of the diagnostic team, final DSM-IV and DSM-5 diagnoses (including both ASD and non-ASD diagnoses), and any additional measures used for diagnostic determination. Note that although DSM-5 criteria include a clause stating that “individuals with a well-established DSM-IV diagnosis of autistic disorder, Asperger’s disorder, or pervasive developmental disorder not otherwise specified should be given the diagnosis of autism spectrum disorder” (American Psychiatric Association 2013), this clause did not apply to participants in the current study as all had been referred specifically for an ASD evaluation and none had previous diagnoses.

Data Analysis Plan

Descriptive statistics (mean, standard deviation, range, percentage) were calculated for demographic and primary study variables. Agreement in ASD diagnosis (autistic disorder, PDD-NOS, Asperger’s disorder) using DSM-IV versus DSM-5 criteria was summarized by the proportion concordant and a simple kappa coefficient. Sensitivity was calculated as the proportion of individuals who met DSM-IV criteria for an ASD (including autistic disorder, PDD-NOS, and Asperger’s disorder) who also met DSM-5 criteria for an ASD. Specificity was calculated as the proportion of individuals who did not meet DSM-IV criteria who also did not meet DSM-5 criteria. Sensitivity and specificity were also calculated for each of the three DSM-IV subtypes (autistic disorder, PDD NOS, and Asperger’s disorder). Finally, sensitivity and specificity of each diagnostic criterion/item was calculated (DSM-5 relative to DSM-IV).

To test the second hypothesis, logistic regression was used to determine whether IQ score predicted concordance versus discordance in DSM criteria. To examine whether additional clinical features were associated with DSM-IV/DSM-5 discordance, concordant and discordant groups were compared on clinical features using one-way ANOVA, Chi square test, or logistic regression.

Results

Demographic information and sample characteristics are presented in Table 1. Out of the total sample of 439 children, 278 met DSM-IV criteria for an ASD (n = 229 for autistic disorder, n = 25 for Asperger’s disorder, and n = 24 for PDD NOS), while 249 met criteria for ASD based on DSM-5. Agreement in overall ASD diagnosis was 93% (kappa = 0.85, sensitivity = 0.89, specificity = 0.99). Only one participant met DSM-5 but not DSM-IV criteria, while 7% (n = 30) met DSM-IV but not DSM-5 criteria. Regarding discordance by DSM-IV subtype, 3% of those meeting criteria autistic disorder, 20% of those meeting criteria for Asperger’s disorder, and 75% of those meeting criteria for PDD NOS did not meet DSM-5 criteria for ASD. The sensitivity of DSM-5 relative to DSM-IV was 0.89 overall, and 0.97 for autistic disorder, 0.80 for Asperger’s disorder, and 0.25 for PDD NOS. Specificity of DSM-5 relative to DSM-IV was 0.99 overall, and 0.87 for autistic disorder, 0.45 for Asperger’s disorder, and 0.41 for PDD NOS. Sensitivity and specificity of each criterion/item is presented in Table 2. Regarding site differences in DSM-IV subcategory, the percent (out of total ASD cases) of subcategory diagnoses across sites ranged from 0 to 21% for PDD NOS, 51–91% for autistic disorder, and 2–31% for Asperger’s disorder.

Table 1

Demographic characteristics by DSM-IV/DSM-5 diagnostic status

 

Both DSM-IV and DSM-5

M (SD)

DSM-5 but not DSM-IV

M (SD)

DSM-IV but not DSM-5

M (SD)

Neither DSM-IV nor DSM-5

M (SD)

Group comparisons: concordant versus discordant*

Test statistic

Effect size

p value

Age

6.43 (4.00)

12.66 (0)

8.85 (3.89)

7.75 (4.28)

9.85a

0.61d

0.0019

 

[% (n)]

[% (n)]

[% (n)]

[% (n)]

   

Sex

    

7.84b

3.01e

0.0051

 Female

18.1% (45)

0.0% (0)

40.0% (12)

21.3% (34)

   

 Male

81.9% (203)

100.0% (1)

60.0% (18)

78.8% (126)

   

Race

    

2.15b

 

0.5417

 Asian

1.3% (3)

0.0% (0)

0.0% (0)

1.3% (2)

 

N/A

 

 Black or African American

11.1% (26)

0.0% (0)

3.4% (1)

6.0% (9)

 

0.28e

 

 Caucasian/White

80.0% (188)

100.0% (1)

89.7% (26)

84.6% (126)

   

 Other

7.7% (18)

0.0% (0)

6.9% (2)

8.1% (12)

 

0.80e

 

Ethnicity

    

0.05b

0.85e

0.8305

 Hispanic/Latino

8.6% (20)

0.0% (0)

7.4% (2)

7.5% (11)

   

 Not hispanic/Latino

91.4% (212)

100.0% (1)

92.6% (25)

92.5% (136)

   

Parental education

    

1.72c

 

0.1898

 <High school

4.4% (10)

0.0% (0)

6.9% (2)

5.3% (8)

   

 High school

24.0% (55)

0.0% (0)

13.8% (4)

31.1% (47)

 

0.36e

 

 Some college

36.2% (83)

100.0% (1)

27.6% (8)

31.1% (47)

 

0.48e

 

 Bachelor’s degree

18.8% (43)

0.0% (0)

27.6% (8)

19.2% (29)

 

0.93e

 

 Postgraduate

16.6% (38)

0.0% (0)

24.1% (7)

13.2% (20)

 

0.92e

 

Household income

    

8.61c

 

0.0033

 ≤$24,999

26.9% (57)

0.0% (0)

12.5% (3)

31.7% (40)

   

 $25,000–49,999

25.9% (55)

100.0% (1)

25.0% (6)

27.0% (34)

 

2.07e

 

 $50,000–74,999

19.8% (42)

0.0% (0)

8.3% (2)

13.5% (17)

 

0.91e

 

 $75,000–99,999

14.2% (30)

0.0% (0)

8.3% (2)

13.5% (17)

 

1.27e

 

 ≥$100,000

13.2% (28)

0.0% (0)

45.8% (11)

14.3% (18)

 

7.46e

 

*Concordant is defined as meeting criteria for ASD on both DSM-IV and DSM-5, discordant is defined as meeting DSM-IV but not DSM-5 criteria for ASD

aOne-way ANOVA F-statistic

b X 2

c X 2 MH

dCohen’s d

eOdds ratio

Table 2

Sensitivity and specificity of DSM-5 criteria for ASD relative to DSM-IV criteria

DSM-5 Criteria

DSM-IV Criteria

Sensitivity

Specificity

Diagnosis

Autism spectrum disorder (ASD)

ASDa

0.89

0.99

 

Autistic disorder

0.97

0.87

 

Asperger’s disorder

0.80

0.45

 

PDD NOSb

0.25

0.41

Item-level criteria

A1. Deficits in social-emotional reciprocity; which may range, for example, from abnormal social approach and failure of normal back and forth conversation; to reduced sharing of interests, emotions, or affect; to failure to initiate or respond to social interactions

A4. Lack of social or emotional reciprocity

0.99

0.70

A1. “

A3. Lack of spontaneous seeking to share enjoyment, interests, or achievements with other people (e.g. by a lack of showing, bringing, or pointing out objects of interest)

0.99

0.44

A1. “

B2. In individuals with adequate speech, marked impairments in the ability to initiate or sustain a conversation with others

0.95

0.40

A2. Deficits in nonverbal communicative behaviors used for social interaction; ranging, for example, from poorly integrated verbal and nonverbal communication; to abnormalities in eye contact and body-language or deficits in understanding and use of gestures; to total lack of facial expressions and nonverbal communication

A1. Marked impairment in the use of multiple nonverbal behaviors such as eye-to-eye gaze, facial expression, body postures, and gestures to regulate social interaction

0.99

0.85

A3. Deficits in developing, maintaining, and understanding relationships; ranging, for example, from difficulties adjusting behavior to suit various social contexts; difficulties in sharing imaginative play or in making friends; to absence of interest in peers

A2. Failure to develop peer relationships appropriate to developmental level

0.98

0.71

A3″

B4. Lack of varied, spontaneous make-believe play or social imitative play appropriate to developmental level

0.97

0.42

B1. Stereotyped or repetitive motor movements, use of objects, or speech (e.g., simple motor stereotypies, lining up toys or flipping plates, echolalia, idiosyncratic phrases)

C3. Stereotyped and repetitive motor mannerisms (e.g., hand or finger flapping or twisting, or complex whole-body movements)

0.99

0.66

B1. “

B3. Stereotyped and repetitive use of language or idiosyncratic language

0.91

0.51

B2. Insistence on sameness, inflexible adherence to routines, or ritualized patterns of verbal or nonverbal behavior (e.g., extreme distress at small changes, difficulties with transitions, rigid thinking patterns, greeting rituals, need to take same route or eat same food every day)

C2. Apparently inflexible adherence to specific, nonfunctional routines or rituals

0.95

0.76

B3. Highly restricted, fixated interests that are abnormal in intensity or focus (e.g., strong attachment to or preoccupation with unusual objects, excessively circumscribed or perseverative interests)

C1. Encompassing preoccupation with one or more stereotyped and restricted patterns of interest that is abnormal either in intensity or focus

0.94

0.94

B3. “

C4. Persistent preoccupation with parts of objects

0.75

0.55

N/A

B1. Delay in, or total lack of, the development of spoken language not accompanied by an attempt to compensate through alternative modes of communication such as gesture or mime

  

B4. Hyper-or hypo-reactivity to sensory input or unusual interest in sensory aspects of the environment (e.g., apparent indifference to pain/temperature, adverse response to specific sounds or textures, excessive smelling or touching of objects, visual fascination with lights or movement)

N/A

  

aMeeting DSM-IV criteria for either autistic disorder, Asperger’s disorder, or PDD NOS

bPervasive developmental disorder, not otherwise specified

Demographic and Clinical Features

Tables 1 and 3 present the results of group comparisons to examine differences in concordant and discordant groups by both demographic and clinical features. Overall, the results indicated that older age (p = .002), female sex (p = .005), higher IQ (p = .003) were associated with discordance (i.e., meeting DSM-IV but not DSM-5 criteria for ASD). In contrast, race, ethnicity, and parental education were not associated with discordance. Regarding clinical features, lower scores on the ABC social withdrawal (p = .008) and stereotypic behavior (p = .04) subscales were associated with discordance, while groups did not differ on other ABC or CBCL subscales. Alternative DSM-5 diagnoses were also examined for the 30 cases who met DSM-IV but not DSM-5 criteria for an ASD. Of these cases, 3 did not meet criteria for any DSM-5 diagnoses, 9 met criteria for one alternative diagnosis, and 18 met criteria for two or more additional diagnoses. The most common alternative diagnosis was Attention-Deficit/Hyperactivity Disorder (n = 18), followed by Anxiety Disorder diagnoses (n = 9). Seven cases met criteria for either Intellectual Disability or Global Developmental Delay. Only two cases met criteria for the new Social Communication Disorder diagnosis.

Table 3

Clinical features of concordant versus discordant groups

 

Both DSM-IV and DSM-5 (concordant)

M (SD)

DSM-IV but not DSM-5 (discordant)

M (SD)

Group comparisonsa

F

Effect sizeb

p value

Full scale IQ

76.18 (22.52)

89.85 (22.06)

8.71

0.61

0.003

ABC irritability

14.96 (10.01)

13.94 (10.71)

0.24

0.10

0.626

ABC social withdrawal

12.83 (8.72)

8.22 (5.40)

7.10

0.64

0.008

ABC stereotypic behavior

5.85 (4.87)

3.85 (3.19)

4.27

0.49

0.040

ABC hyperactivity/noncompliance

19.86 (11.86)

17.79 (12.54)

0.70

0.17

0.403

ABC inappropriate speech

3.64 (3.11)

2.93 (2.70)

1.29

0.25

0.258

CBCL externalizing problems T-score

61.69 (11.67)

61.57 (12.69)

0.00

0.01

0.958

CBCL internalizing problems T-score

65.33 (9.44)

62.20 (11.15)

2.78

0.30

0.097

ABC aberrant behavior checklist, CBCL child behavior checklist

aOne-way ANOVA

bCohen’s d

Discussion

This was the first large-scale study to prospectively examine the concordance of DSM-IV and final DSM-5 criteria in a well-characterized clinical sample of children referred for autism diagnostic evaluation. In the current sample, DSM-5 criteria demonstrated excellent specificity and good sensitivity relative to DSM-IV criteria overall. Sensitivity and specificity of DSM-5 criteria was strongest for children who met DSM-IV criteria for autistic disorder. In contrast, a substantial percentage of children who met criteria for Asperger’s disorder and PDD NOS did not meet DSM-5 criteria (20 and 75%, respectively).

In contrast to prior studies based on draft criteria or retrospective samples see for review (Smith et al. 2015), the majority of children in our study who met DSM-IV criteria for an ASD continued to meet DSM-5 criteria. Our overall finding that 89% of those who met DSM-IV criteria for an ASD also met DSM-5 criteria were most consistent with studies also using final (rather than draft) DSM-5 criteria, which reported similar rates of 81–89% (Kim et al. 2014; Maenner et al. 2014). In contrast, earlier studies using draft criteria found higher rates of discordance (see Smith et al. 2015). Our sample also comprised a relatively smaller percentage of PDD NOS and Asperger’s disorder relative to autistic disorder subcategory diagnoses (9, 9, and 82%, respectively). Prior studies that found the highest rates of diagnostic discordance consisted of relatively larger PDD NOS and Asperger’s disorder subgroups, with as many as 43–63% of some study samples consisting of these subcategories e.g., (Matson et al. 2012; Young and Rodi 2014). Given that individuals with these subcategory diagnoses are less likely to meet DSM-5 criteria than those with autistic disorder (see for review Smith et al. 2015), these differences in subcategory proportions across study samples likely account for differences in overall diagnostic discordance across studies. It is also noteworthy that our site differences in diagnostic subcategory were consistent with the findings of another large multi-site study (Lord et al. 2012) showing similar differences in the use of these categories across sites. This reaffirms concerns that have been previously raised about reliability of DSM-IV subcategory diagnostic criteria (Lord and Bishop 2015; Lord et al. 2006; Ozonoff 2012).

In examining criterion-level findings, sensitivity was fairly strong, while specificity was relatively lower across items. Although most items are similar across versions, DSM-5 offers more examples within items and some specific DSM-5 criteria combine criteria that were previously separate in DSM-IV. Additionally, DSM-5 specifies that symptoms may be counted as present both currently and by history, with further specification that symptoms should occur early in development but may not fully manifest until later in life. Overall, our results indicate these nuanced changes do affect the extent to which clinicians determine whether a symptom is present or absent.

The secondary goal of the current study was to examine the extent to which demographic or clinical features were associated with discordance. Consistent with prior studies (McPartland et al. 2012; Smith et al. 2015), our results indicated higher IQ was associated with discordance among those who met DSM-IV criteria. Our results also provided new information about additional child-specific characteristics that affect concordance/discordance. In our sample, older age at diagnostic assessment, less pronounced symptoms of stereotyped behavior and social withdrawal were associated with greater discordance. Given that children with milder symptom presentation are identified and diagnosed later than those with more severe ASD symptoms (Mazurek et al. 2014; Wigginset al. 2006), children who are presenting for a first diagnosis at an older age may have more complex or subtle symptom presentation, which may explain greater discordance between DSM-IV and DSM-5. Although our sample was limited to children and adolescents, further research would be helpful to examine the concordance of DSM-IV and DSM-5 criteria among adults referred for diagnostic assessment. Given the age-related findings from the current sample, it seems likely that discordance may be even more likely in adult samples.

Our findings also indicated greater diagnostic discordance among girls presenting for diagnostic assessment. Concerns about under-identification of females with ASD have been raised even prior to DSM-5 (Frazier et al. 2014; Giarelli et al. 2010). Our findings are also consistent with those of Frazier et al. in an early examination of draft DSM-5 criteria; particularly that females with DSM-IV diagnosed ASD were disproportionately affected by diagnostic changes (Frazier et al. 2012). This suggests that DSM-5 criteria may be even less inclusive than DSM-IV of female-specific symptom manifestations, particularly for older girls and those who have stronger cognitive abilities.

There are some study limitations that should be considered when interpreting the current findings. As noted above, our sample consisted of a relatively large proportion of cases meeting DSM-IV criteria autistic disorder (82%), with fewer cases meeting criteria for PDD NOS or Asperger’s disorder. In population-based studies, such as those conducted through the Autism and Developmental Disabilities Monitoring Network, those meeting criteria for autistic disorder have constituted a relatively lower percentage of the ASD population (e.g., 46%) (Christensen et al. 2016). Thus, the current sample may not be representative of the larger population of children referred for an ASD evaluation. Given our finding that diagnostic agreement was highest for the autistic disorder category, it is possible that the overall concordance of DSM-IV and DSM-5 criteria would be lower in a more representative sample than was observed in the current study.

Clinical Implications

Overall, our findings suggest that DSM-5 ASD criteria are somewhat more stringent, and that symptoms that may be subtle or ambiguous are less likely to continue to meet criteria than they were according to DSM-IV. Given site differences in DSM-IV diagnostic subcategory use (particularly PDD NOS), our results also suggest that DSM-5 criteria are likely to lead to more consistency in diagnostic determination across clinicians. Despite some early predictions that the new Social Communication Disorder diagnostic category may be a means for children previously meeting criteria for PDD NOS to retain eligibility for services (Greaves-Lord et al. 2013), our results indicate that SCD does not appear to be a common alternative diagnosis for children who met DSM-IV but not DSM-5 criteria for an ASD. Rather, ADHD was the most common alternative diagnosis in discordant cases. In the great majority of discordant cases, children met criteria for an alternative diagnosis according to DSM-5. It is hoped that rather than signaling a loss of eligibility for services, increased diagnostic specificity in DSM-5 will result in access to the services and supports that are best matched to the child’s specific needs.

Notes

Acknowledgments

The authors are extremely grateful to all the families and clinicians who participated in this study. This Network activity was supported by Autism Speaks and cooperative agreement UA3 MC11054 through the U.S. Department of Health and Human Services, Health Resources and Services Administration, Maternal and Child Health Research Program to the Massachusetts General Hospital. This work was conducted through the Autism Speaks Autism Treatment Network.

Funding

This project was supported by Autism Speaks and cooperative agreement UA3 MC11054 through the U.S. Department of Health and Human Services, Health Resources and Services Administration, Maternal and Child Health Research Program to the Massachusetts General Hospital. This work was conducted through the Autism Speaks Autism Treatment Network.

Author Contributions

MOM and BLH conceptualized and designed the study and drafted the initial manuscript. FL performed the statistical analyses and helped to draft the manuscript. EAM participated in the design of the study and guided statistical analyses. HS helped coordinate multi-site research processes and protocol development. EB, NMB, RJH, MP, and SMK collaborated in project development and data collection, and critically reviewed and revised the manuscript. All authors read and approved the final manuscript.

Compliance with Ethical Standards

Conflict of interest

Dr. Mazurek has received research support from National Institute of Mental Health (NIMH), Autism Speaks, and Health Resources and Services Administration (HRSA). Ms. Lu has received research support from Autism Speaks and HRSA. Dr. Butter has received research funding from NIMH, the Maternal and Child Health Bureau, Autism Speaks, the Simons Foundation for Autism Research, and the United State Department of Defense and has received fees as a training consultant from Roche Products, Ltd. Dr. Hundley has received speaker fees from Western Psychological Services. Dr. Macklin serves as a DSMB member for Acorda Therapeutics and Shire Human Genetic Therapies and receives research support from Adolph Coors Foundation, ALS Association, ALS Finding a Cure, Autism Speaks, Biotie Therapies, Michael J Fox Foundation, FDA, HRSA, NIH, and PCORI. Dr. Handen has received research support from Curemark, Neuropharm, Lilly, Forest, Bristol Myers Squibb, Roche, Pediamed, Pfizer and Autism Speaks.

Ethical Approval

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

Informed Consent

Informed consent was obtained from all individual participants included in the study.

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Copyright information

© Springer Science+Business Media, LLC 2017

Authors and Affiliations

  • Micah O. Mazurek
    • 1
    • 2
  • Frances Lu
    • 3
  • Heather Symecko
    • 3
    • 4
  • Eric Butter
    • 5
  • Nicole M. Bing
    • 6
  • Rachel J. Hundley
    • 7
  • Marie Poulsen
    • 8
  • Stephen M. Kanne
    • 1
  • Eric A. Macklin
    • 3
    • 9
  • Benjamin L. Handen
    • 10
  1. 1.Department of Health Psychology, Thompson Center for Autism and Neurodevelopmental DisordersUniversity of MissouriColumbiaUSA
  2. 2.Curry School of EducationUniversity of VirginiaCharlottesvilleUSA
  3. 3.Biostatistics CenterMassachusetts General HospitalBostonUSA
  4. 4.Besser Center for BRCA, Abramson Cancer CenterUniversity of PennsylvaniaPhiladelphiaUSA
  5. 5.Department of Pediatrics and Psychology, Nationwide Children’s HospitalThe Ohio State UniversityColumbusUSA
  6. 6.Division of Developmental and Behavioral PediatricsCincinnati Children’s Hospital Medical CenterCincinnatiUSA
  7. 7.Division of Developmental Medicine, Department of PediatricsVanderbilt University Medical CenterNashvilleUSA
  8. 8.Department of Pediatrics, Children’s Hospital Los Angeles, Keck School of MedicineUniversity of Southern CaliforniaLos AngelesUSA
  9. 9.Department of MedicineHarvard Medical SchoolBostonUSA
  10. 10.Department of PsychiatryUniversity of Pittsburgh School of MedicinePittsburghUSA

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