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Ph.D.,
Brian Reichow,
Ph.D.,
Fred R. Volkmar,
M.D.
Objective: This study evaluated the potential impact of proposed DSM-5 diagnostic criteria
for autism spectrum disorder (ASD). Method: The study focused on a sample of 933
participants evaluated during the DSM-IV field trial; 657 carried a clinical diagnosis of an ASD,
and 276 were diagnosed with a non-autistic disorder. Sensitivity and specificity for proposed
DSM-5 diagnostic criteria were evaluated using field trial symptom checklists as follows:
individual field trial checklist items (e.g., nonverbal communication); checklist items grouped
together as described by a single DSM-5 symptom (e.g., nonverbal and verbal communication); individual DSM-5 criterion (e.g., social-communicative impairment); and overall diagnostic criteria. Results: When applying proposed DSM-5 diagnostic criteria for ASD, 60.6%
(95% confidence interval: 57% 64%) of cases with a clinical diagnosis of an ASD met revised
DSM-5 diagnostic criteria for ASD. Overall specificity was high, with 94.9% (95% confidence
interval: 92%97%) of individuals accurately excluded from the spectrum. Sensitivity varied by
diagnostic subgroup (autistic disorder 0.76; Aspergers disorder 0.25; pervasive developmental disordernot otherwise specified 0.28) and cognitive ability (IQ 70 0.70; IQ
70 0.46). Conclusions: Proposed DSM-5 criteria could substantially alter the composition
of the autism spectrum. Revised criteria improve specificity but exclude a substantial portion
of cognitively able individuals and those with ASDs other than autistic disorder. A more
stringent diagnostic rubric holds significant public health ramifications regarding service
eligibility and compatibility of historical and future research. J. Am. Acad. Child Adolesc.
Psychiatry, 2012;51(4):368 383. Key Words: autism spectrum disorder, DSM-5, sensitivity,
specificity
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METHOD
The data for the analyses in this study were obtained
from the multisite field trial of the DSM-IV.28 In the
context of the field trial, 977 patients were evaluated
for possible PDD. This re-analysis focused on 933
cases, omitting individuals diagnosed with non-autistic
PDDs (Retts disorder, n 13; childhood disintegrative disorder, n 16), as well as individuals with
missing data required for the present analyses (n
15). Characteristics of the sample are presented in
Table 1. The sample included 657 individuals who
received a clinical diagnosis of an autism spectrum
disorder (autistic disorder, n 450; Aspergers disorder, n 48; PDD-NOS/atypical autism, n 159) and
a comparison sample of 276 individuals who received
a clinical diagnosis other than ASD (mental retardation, n 129; developmental language disorders, n
86; childhood schizophrenia n 9; other disorders,
n 52). Consistent with the skewed sex ratio characteristic of ASD, ASD and non-ASD groups differed in
terms of gender (2(1) 17.7, p .001) but were
comparable in terms of age (t (931) 0.57, p .05) and
IQ (2(5) 10.0, p .05). Both groups represented a
wide age span, with the ASD group ranging from 12
months to 43 years, 5 months, and the non-ASD group
ranging from 12 months to 39 years, 5 months.
In the context of the field trial evaluations, 125
clinicians across 21 international sites evaluated cases
to assign a clinical diagnosis. Each clinician also completed an extensive symptom checklist (61 items) encompassing DSM-III11 and DSM-III-R13 criteria, as
well as the proposed diagnostic criteria for ICD-1029
and DSM-IV5 (copies of the complete checklist are
available from the authors by request). Clinical diagnosis demonstrated good overall sensitivity and spec-
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TABLE 1
Clinical Diagnosis
Autism
Aspergers disorder
PDD-NOS/atypical autism
Mental retardation
Developmental language disorders
Childhood schizophrenia
Other disorders
Sexa
Male
Female
IQb
25
2539
4054
5569
7085
85
Age (y)
450
48
159
Non-ASD (n 276)
68.5
7.3
24.2
129
86
9
52
46.7
31.2
3.3
18.9
81.1
17.4
191
82
69.2
29.7
37
104
137
115
97
140
5.6
15.8
20.9
17.5
14.8
21.3
14
31
48
48
57
72
5.1
11.2
17.4
17.4
20.7
26.1
SD
6.9
Mean
9.5
SD
8.2
Mean
9.2
diagnostic criteria, multiple field trial symptom checklist items were required to ensure that the construct
was adequately represented (i.e., proposed DSM-5
criteria A1, A3, B1, B2, and C). In all of the instances
that multiple checklist items were included, it was
required that the case had any one of the items to meet
the criteria. For the third proposed DSM-5 criterion
(C), Symptoms must be present in early childhood
(but may not become fully manifest until social demands exceed limited capacities), an onset of 36
months was applied. For the symptom checklist
derived algorithm, we determined sensitivity and specificity for (a) individual field trial checklist items (e.g.,
nonverbal communication), (b) checklist items grouped
together as described by a specific symptom criterion
(e.g., nonverbal and verbal communication), (c) symptom domain criterion (e.g., social-communicative impairment), and (d) overall diagnostic criteria. Sensitivity was calculated as the proportion of individuals
with a clinical diagnosis of ASD meeting criteria according to the diagnostic algorithm, i.e., the proportion
of true positives. Specificity was calculated as the
proportion of individuals who did not carry a clinical
diagnosis of ASD and did not meet criteria according
to the diagnostic algorithm, i.e., the proportion of true
negatives.
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Se/Sp
DSM-5 Criteria
or
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TABLE 2 Sensitivity (Se) and Specificity (Sp) of Proposed DSM-5 Diagnostic Criteria for Autism Spectrum Disorder (ASD) for Individuals With and Without a Clinical
Diagnosis of ASD
Continued
or
or
or
Note: Se: n 657 unless otherwise noted; Sp: n 276 unless otherwise noted.
a
n 655; bn 656; cn 274; dn 275; en 651; fn 652; gn 608; hn 264; in 650; jn 259.
DSM-5 Criteria
TABLE 2
Item(s)
Se/Sp
Criterion
Diagnosis
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or
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or
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TABLE 3 Sensitivity (Se) and Specificity (Sp) of Proposed DSM-5 Diagnostic Criteria of Autism Spectrum Disorder for Individuals With and Without a Clinical
Diagnosis of an Autism Spectrum Disorder with IQ 70
TABLE 3
Continued
Se/Sp
DSM-5 Criteria
Item(s)
Criterion
Diagnosis
or
or
Note: Se: n 237 unless otherwise noted; Sp: n 129 unless otherwise noted.
a
n 236; bn 128; cn 127; dn 211; en 234; fn 125.
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RESULTS
Sensitivity and specificity for the DSM-5 algorithm are displayed in Table 2, with 95% confidence intervals (CI) displayed in Table 4. Based
on DSM-5 diagnostic criteria for ASD, 398 of 657
clinically diagnosed cases (60.6%; 95% CI 57%
64%) met the proposed criteria for ASD, with 259
cases (39.4%) failing to meet diagnostic threshold. In terms of specificity, the proposed DSM-5
criteria accurately excluded 262 of 276 individuals (94.9%; 95% CI 92%97%). Exploratory
analyses were conducted to examine potential
discrepancies between individuals carrying a
clinical diagnosis of ASD who met or failed to
meet DSM-5 criteria. The proportion of individuals (274 of 393 cases, or 69.7%) with lower
cognitive ability (i.e., IQ 70) meeting DSM-5
criteria was significantly higher than the proportion of individuals (109 of 237 cases, or 46.0%)
with higher cognitive ability (i.e., IQ 70) meeting DSM-5 criteria (2(1) 34.9, p .001; 27
individuals with missing IQ data were excluded
from this analysis). There were also significant
discrepancies in cases meeting DSM-5 diagnostic
criteria across clinical diagnoses (2(2) 138.3,
p .001); 341 of 450 (75.8%) of cases with a
clinical diagnosis of autistic disorder, 12 of 48
(25%) of cases with Aspergers disorder, and 45
of 159 (28.3%) of cases with PDD-NOS or atypical
autism met proposed DSM-5 diagnostic criteria
for ASD. Those meeting and failing to meet
proposed DSM-5 ASD diagnostic criteria were
comparable with respect to chronological age
(mean 9.15, SD 6.92; mean 9.14, SD 6.85,
respectively; t(654) 0.02, p .98) and sex ratio
(60.4% of males and 63.2% of females met diagnostic criteria; 2(1) 0.30, p .59).
Most individuals failing to meet the DSM-5
diagnostic criteria did so because of a failure to
meet the social communication criterion (27%)
and/or the RRB criterion domain (22%); all but
3% met the onset criterion. To examine the
effect of the monothetic versus polythetic approach used for this criterion, we calculated the
proportion of individuals who would meet a
polythetic threshold for the social-communication domain. If two of three social communication symptoms (instead of all three) were required, overall sensitivity would increase from
0.61 to 0.75 (specific sensitivity for Autistic
Disorder, Aspergers Disorder, and PDD-NOS
would be 0.84, 0.52, and 0.55, respectively),
with a corresponding decrease in specificity
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TABLE 4
95% Confidence Intervals (CI) for Sensitivity (Se) and Specificity (Sp) Values for All Case Patients and Those With IQ 70
All Cases (Table 2)
DSM-5 Criteria
Se (95% CI)
Sp (95% CI)
Se (95% CI)
Sp (95% CI)
0.73 (0.700.77)
0.88 (0.830.91)
0.58 (0.510.64)
0.93 (0.870.97)
0.96 (0.940.97)
0.60 (0.540.66)
0.92 (0.880.95)
0.67 (0.580.75)
0.77 (0.740.80)
0.73 (0.680.78)
0.74 (0.680.80)
0.77 (0.680.84)
0.76 (0.730.79)
0.82 (0.770.87)
0.70 (0.640.76)
0.90 (0.830.94)
0.63 (0.590.66)
0.86 (0.830.89)
0.76 (0.720.79)
0.89 (0.850.93)
0.79 (0.740.84)
0.82 (0.770.86)
0.46 (0.390.52)
0.80 (0.750.85)
0.62 (0.550.68)
0.98 (0.901.00)
0.84 (0.760.90)
0.87 (0.800.92)
0.76 (0.720.79)
0.82 (0.770.86)
0.62 (0.550.68)
0.87 (0.800.92)
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IQ > 70 (Table 3)
Continued
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Se (95% CI)
Sp (95% CI)
Se (95% CI)
Sp (95% CI)
0.96 (0.950.98)
0.50 (0.440.56)
0.95 (0.920.98)
0.51 (0.420.60)
0.90 (0.880.93)
0.60 (0.540.66)
0.90 (0.860.94)
0.58 (0.490.67)
0.84 (0.810.87)
0.71 (0.650.76)
0.76 (0.700.81)
0.73 (0.640.80)
0.78 (0.750.81)
0.67 (610.73)
0.71 (0.650.77)
0.74 (0.660.82)
0.80 (0.770.83)
0.63 (0.570.69)
0.72 (0.660.78)
0.76 (0.680.83)
0.52 (0.480.56)
0.87 (0.820.91)
0.57 (0.500.63)
0.88 (0.810.93)
0.64 (0.600.67)
0.56 (0.520.60)
0.73 (0.670.78)
0.85 (0.800.89)
0.46 (0.390.52)
0.54 (0.470.60)
0.85 (0.780.91)
0.83 (0.750.89)
0.45 (0.410.49)
0.90 (0.860.93)
0.44 (0.370.50)
0.88 (0.810.93)
0.41 (0.370.45)
0.91 (0.860.94)
0.38 (0.310.44)
0.90 (0.830.94)
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TABLE 4
TABLE 4
Continued
All Cases (Table 2)
DSM-5 Criteria
Se (95% CI)
Sp (95% CI)
Se (95% CI)
Sp (95% CI)
0.48 (0.440.52)
0.42 (0.360.48)
0.46 (0.400.53)
0.44 (0.350.53)
0.48 (0.440.52)
0.42 (0.360.48)
0.46 (0.400.53)
0.44 (0.350.53)
0.44 (0.400.48)
0.86 (0.820.90)
0.38 (0.310.44)
0.92 (0.860.96)
0.44 (0.400.48)
0.86 (0.820.90)
0.38 (0.310.44)
0.92 (0.860.96)
0.97 (0.950.98)
0.16 (0.120.20)
0.95 (0.910.97)
0.22 (0.160.31)
0.96 (0.940.98)
0.30 (0.240.35)
0.94 (0.900.97)
0.43 (0.350.52)
0.96 (0.950.98)
0.61 (0.570.64)
0.17 (0.130.22)
0.95 (0.920.97)
0.94 (0.900.96)
0.46 (0.400.53)
0.24 (0.170.32)
0.98 (0.931.0)
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McPARTLAND et al.
DISCUSSION
The current study examined the impact of the
proposed changes to the diagnostic criteria for
ASD in DSM-5. We focused on 933 cases referred
for evaluation for the presence of a PDD in the
DSM-IV field trial. From this sample, we contrasted 657 who had been clinically diagnosed
with an ASD and a comparison sample of 276
individuals who received a clinical diagnosis not
on the autism spectrum. From 61 individual
checklist items rated by these field trial evaluators, we created an algorithm analogous to proposed DSM-5 criteria, and we determined the
proportion of individuals likely to meet criteria
for individual DSM-5 symptom items, domain
criteria, and overall diagnosis. This re-analysis
indicated that, based on proposed DSM-5 criteria, 60.6% of individuals clinically diagnosed
with an ASD in the field trial would continue to
meet DSM-5 criteria but that 39.4% would no
longer meet diagnostic criteria. DSM-5 criteria,
however, showed excellent specificity, accurately
excluding 94.9% who did not receive a clinical
diagnosis of ASD. Cases meeting or failing to
meet DSM-5 criteria were comparable in terms of
chronological age and sex but discrepant with
respect to cognitive ability and ASD diagnostic
subgroup. Individuals with intellectual disability
were more likely than cognitively able individuals to meet DSM-5 criteria (69.7% and 46.0%,
respectively). Individuals clinically diagnosed
with autistic disorder were more likely to pass
the DSM-5 diagnostic threshold than those with
Aspergers disorder or PDD-NOS (75.8%, 25.0%,
and 28.3%, respectively).
The modifications proposed to diagnostic criteria for ASD appear to result in a more stringent
diagnostic threshold. According to the proposed
criteria, cognitively able individuals and those
with ASDs other than autistic disorder would be
less likely to receive a diagnosis on the autism
spectrum. The proposed change to a spectrum
approximates a diagnostic construct closer to
classic autism. There also exist fewer ways to
arrive at diagnostic threshold, with DSM-5 ASD
offering 11 combinations of criteria and DSM-IV
Autistic Disorder offering 2,027 combinations.
From the group of individuals clinically diagnosed with ASD in the field trial, less than
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