J Autism Dev Disord

DOI 10.1007/s10803-016-2734-4

ORIGINAL PAPER

Autism Spectrum Disorder in the DSM-5: Diagnostic Sensitivity

and Specificity in Early Childhood
Jessica A. Christiansz1 Kylie M. Gray1,2 John Taffe1 Bruce J. Tonge1

Springer Science+Business Media New York 2016

Abstract Changes to the DSM-5 Autism Spectrum

Disorder (ASD) criteria raised concerns among parents and
practitioners that the criteria may exclude some children
with Pervasive Developmental Disorder (PDD). Few
studies have examined DSM-5 sensitivity and specificity in
children less than 5 years of age. This study evaluated 185
children aged 2055 months with DSM-IV PDD or
developmental delay. Autism Diagnostic InterviewRevised (ADI-R) and Autism Diagnostic Observation
Schedule (ADOS) data was assigned to DSM-5 subdomains. Children displaying the required symptomatology
were classified with DSM-5 ASD. DSM-IV clinical diagnoses were compared to DSM-5 classifications. Using
combined ADI-R/ADOS information, sensitivity was .84
and specificity was .54. Comorbid behaviour and emotional
problems were significantly lower in children with PDD
that did not meet DSM-5 criteria.
Keywords Autism Spectrum Disorder
ADI-R
ADOS

Diagnosis
DSM-5

Electronic supplementary material The online version of this

article (doi:10.1007/s10803-016-2734-4) contains supplementary
material, which is available to authorized users.
& Kylie M. Gray
kylie.gray@monash.edu
1

Centre for Developmental Psychiatry and Psychology,

Department of Psychiatry, School of Clinical Sciences,
Monash University, Notting Hill, VIC, Australia

Centre for Developmental Psychiatry and Psychology, Early

in Life Mental Health Services, Monash Medical Centre, 246
Clayton Rd, Clayton, VIC 31768, Australia

Introduction
The revisions to the American Psychiatric Associations
(APA) diagnostic criteria for Autism Spectrum Disorder in
the DSM-5 (APA 2013) raised concerns that some individuals, particularly those more cognitively able or those
with Pervasive Developmental Disorder Not Otherwise
Specified (PDD-NOS), may be less likely to receive a
DSM-5 (APA 2013) diagnosis of ASD (e.g. McPartland
et al. 2012; Tanguay 2011). A systematic review and metaanalysis of 14 studies reported that ASD diagnoses significantly decreased by 31 % (7.368.4 %) under the
DSM-5 criteria (Kulage et al. 2014). Sample characteristics
such as age and comorbid intellectual disability, varied
widely across studies. Individuals initially diagnosed with
PDD-NOS appeared to be the most affected, with a 70 %
decrease in diagnosis under the DSM-5 compared to 22 %
for Autistic Disorder.
A comprehensive study comparing DSM-IV and DSM-5
concluded that most children aged 217 years who received
a DSM-IV PDD diagnosis met the DSM-5 ASD criteria,
including more cognitively able individuals (Huerta et al.
2012). Three large archival data sets contained a total of
4453 children with DSM-IV PDD diagnoses (Autistic
Disorder, PDD-NOS or Aspergers Disorder) and 690 children with non-PDD DSM-IV diagnoses (e.g. language disorder, Attention Deficit Hyperactivity Disorder). Autism
Diagnostic Observation Schedule (ADOS; Lord et al. 2001)
and Autism Diagnostic InterviewRevised (ADI-R; Lord
et al. 1994) items were mapped onto both DSM-IV and
DSM-5 criteria. That is, individual ADI-R and ADOS
symptoms were assigned to the criterion that best matched
the symptoms described in the diagnostic criteria. Good
overall sensitivity (.91.99) was reported, however specificity was low (.33.53). Similarly, sensitivity was typically

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J Autism Dev Disord

high in females (.88.93) and children under age 4 (.9098),

although specificity in both groups remained low (.51.76
and .40.53). Most children did not meet the DSM-5 criteria
based on insufficient Social communication and social
interaction (Social-Communication) symptoms. As such, the
authors argued that their findings support the DSM-5
Restricted, repetitive patterns of behaviour, interests, or
activities (RRB) domain requirements.
Although the findings mitigated concerns regarding
DSM-5 sensitivity, the results may partially reflect the
subdomain cut-offs selected. An ADI-R/ADOS coding of 1
may not always indicate a clinically significant impairment. When only a code of 1 on any ADOS or ADI-R item
is required as evidence for a DSM-5 subdomain, more
children without ASD may be incorrectly classified,
resulting in reduced specificity. As such, more stringent
subdomain cut-offs may need to be considered to capture
clinically significant impairments best differentiating those
with and without ASD.
Using a similar methodology, Kent et al. (2013) explored
the impact of various subdomain cut-offs to develop a DSM5 ASD algorithm for the Diagnostic Interview for Social and
Communication Disorders (DISCO; Leekam et al. 2002).
An 85-item algorithm that mapped onto DSM-5 criteria was
developed and tested on two separate samples of children
aged 212 years with or without PDD. Optimal sensitivity
(.851.0) and specificity (.74.89) was obtained using a
Social-Communication subdomain cut-off of 3 for subdomain A1 (deficits in social-emotional reciprocity), 1 for
subdomain A2 (deficits in nonverbal communicative behaviours used for social interaction) and 3 for subdomain A3
(deficits in developing, maintaining and understanding
relationships), together with RRB subdomain cut-offs of 1
for two of the four RRB subdomains. Good sensitivity and
specificity was reported across ability levels.
More recent work identified DISCO items that best differentiated children (aged 2.811.7) with and without ASD
(e.g. intellectual disability, language impairment) according
to the DSM-5 (Carrington et al. 2014). The most discriminating items were largely within the Social-Communication
domain, particularly socio-emotional reciprocity items.
Within the RRB domain, sensory behaviour items best discriminated between groups. The 54-item algorithm produced
sensitivity and specificity comparable to the 85-item algorithm. The larger number of DISCO items available may
have enabled better discrimination between those with and
without ASD when compared previous studies (Huerta et al.
2012), however replication is necessary.
DSM-5 Diagnoses in Early Childhood
The majority of studies include broad age ranges, which
may miss important differences in symptom presentation

123

between age groups. The importance of early identification

and intervention highlights the need for research specifically applying the DSM-5 criteria to young children.
A study of 180 children under age 5 reported that most
children with a DSM-IV PDD diagnosis (96.88 %) would
meet criteria for ASD according to the published DSM-5
diagnostic criteria (Sumi et al. 2014). Diagnoses were
based on reviewing assessment records of intellectual
functioning, child observations, an initial parent interview
and semi-structured parent interview (Pervasive Developmental Disorders Autism Society Japan Rating Scale).
However, the Social-Communication domain was considered as a whole, rather than symptoms in all three subdomains, as specified in the DSM-5.
In contrast, a larger study reviewing the case files of
2721 children aged 13 years suggested that diagnostic
changes may significantly impact toddlers (Matson et al.
2012). DSM-IV and DSM-5 diagnoses were based on
judgement by an experienced psychologist reviewing
M-CHAT scores (Robins 2001) and the Battelle Developmental Inventory developmental profiles (BDI-2; Newborg
2005). Of the 795 toddlers diagnosed with DSM-IV
Autistic Disorder or PDD-NOS, 52.20 % (n = 415) also
met DSM-5 criteria for ASD. Symptom severity was then
assessed based on a parent-completed measure of ASD
symptoms (BISCUIT-Part 1; Matson et al. 2009). Based on
the BISCUIT-Part 1 scores, parent-reported ASD symptom
severity was significantly higher in children who met the
DSM-5 ASD diagnostic criteria compared to children who
met DSM-IV but not DSM-5 diagnostic criteria. However,
both groups displayed significant impairments when compared to those with no PDD/ASD diagnosis. As such, the
authors argued that children with PDD may still require
intervention even though they may not meet DSM-5 ASD
criteria. However, as diagnoses were only based on information obtained from a brief screening tool and developmental profiles, it is unlikely there was sufficient
information to reliably diagnose children according to
either DSM-IV or DSM-5.
Another study evaluated the sensitivity and specificity of
DSM-5 ASD classifications in 422 children under age
4 years (Barton et al. 2013). Using a similar methodology
to Huerta et al. (2012), ADI-R and ADOS items were
mapped onto the proposed DSM-5 criteria. As item mappings differed between the two research groups, analyses
were also completed using mapping by Huerta et al.
(2012). Sensitivity and specificity differed based on the
mappings used, the subdomain cut-offs summing ADI-R/
ADOS codes and the domain requirements that either
matched or modified the proposed DSM-5 criteria. Using
the proposed DSM-5 criteria and the subdomain cut-off of
1 on any ADI-R/ADOS item as defined by Huerta et al.
(2012), sensitivity ranged from .84 to .86 while specificity

J Autism Dev Disord

ranged from .41 to .55. Altering subdomain-level cut-offs

based on Receiver Operating Characteristic (ROC) curves
increased specificity (.94), but reduced sensitivity (.72
.77). Optimal sensitivity (.93) and specificity (.74) was
obtained by reducing the DSM-5 Social-Communication
requirements to two subdomains and the RRB requirements
to one subdomain. The study did not examine variables that
differentiated children who did and did not meet the DSM5 diagnostic criteria for ASD. As such, it is not known
whether they differed according to features such as
chronological age, gender, adaptive functioning or developmental level.
The Role of Chronological Age, Gender, Cognitive
Ability and Adaptive Behaviour Skills
A variety of studies examining the role of chronological
age and gender have typically found that children with
PDD, who did not meet DSM-5 criteria, did not significantly differ from those who did meet DSM-5 criteria on
chronological age or gender (Gibbs et al. 2012; Matson
et al. 2012; McPartland et al. 2012; Taheri and Perry 2012;
Turygin et al. 2013; Mayes et al. 2014).
However, cognitive ability may impact whether children
with DSM-IV PDD meet the DSM-5 diagnostic criteria for
ASD. In samples with broad age ranges, children with PDD
who did not meet DSM-5 criteria had, on average, higher
cognitive abilities compared to those who met the DSM-5
criteria (Mayes et al. 2014; Taheri and Perry 2012; Taheri
et al. 2014). Similarly, both Mattila et al. (2011) and
McPartland et al. (2012) reported that fewer children with
an IQ above 70 received a DSM-5 diagnosis of ASD
compared to children with lower cognitive abilities
(IQ \ 70).
Adaptive behaviour skills may also differ between
children with and without DSM-5 ASD. Taheri et al.
(2014) reported that 45 % of children did not meet DSM5 ASD criteria, displaying significantly higher adaptive
and cognitive abilities compared to children who did
meet DSM-5 criteria. However, the small sample
(n = 22), broad age range (519 years) and diagnostic
process based file reviews of clinical notes and ratings
from the Childhood Autism Rating Scale (CARS;
Schopler et al. 1988) limit the applicability of the findings. Nevertheless, this pattern of results has also been
reported in toddlers (Turygin et al. 2013). Toddlers aged
1736 months (n = 2054) with DSM-IV PDD who did
not meet DSM-5 diagnostic criteria displayed greater
adaptive, personal-social, motor abilities than those who
met DSM-5 criteria. This sample was a subset of toddlers
from an earlier study (Matson et al. 2012), and as previously noted, the measures used to inform diagnosis
were limited.

Although young children with a DSM-5 diagnosis may

represent a more functionally impaired group (Turygin
et al. 2013), limitations of current research indicate the
need for further research to examine the role of age, gender, cognitive ability, and adaptive behaviour skills in
diagnosing young children with ASD according to DSM-5
criteria.
Summary and Current Study
Overall, studies to date provide some evidence supporting
concerns that some young children may be vulnerable to no
longer meeting the ASD diagnostic criteria, with some
suggesting modification of the DSM-5 criteria to improve
sensitivity. However, results across studies are mixed and
should be interpreted with caution. Subtle differences
between the draft and final DSM-5 criteria for ASD
regarding the phrasing of symptoms may have impacted
findings. Differences across studies may also reflect the
varying sample characteristics and range of methodologies
used, along with processes and methods for making diagnoses, particularly in the application of the DSM-5 criteria
and diagnostic classification. Furthermore, studies have
typically included broad age ranges; however, particular
attention needs to be given to the application of the DSM-5
to young children. Studies specifically assessing young
children have been limited and further investigation of the
characteristics of children who do not meet DSM-5 criteria
is required.
This study therefore aimed to investigate the impact of
the published DSM-5 criteria on diagnostic classifications
of ASD in young children. The role of gender, chronological age, developmental level, language delay, adaptive
behaviour skills and co-morbid behaviour and emotional
problems were also examined in relation to agreement
across the two sets of DSM criteria.

Methods
Participants
This study was granted approval from the Monash
University Human Research Ethics Committee. Participants were recruited between 20032005 through regions
of Melbourne, Australia which consisted of a variety of
social classes and ethnic groups (Gray et al. 2008b). Participants were referred through governmental/non-governmental early childhood services and paediatricians in the
southern, western and northern regions of Melbourne, and a
public regional autism assessment programme in the
southern region of Melbourne. Families were invited to
participate if their child was 1848 months of age and had,

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J Autism Dev Disord

or was suspected to have developmental delay (suspected

autism was not a requirement).
Participants were aged 1848 months when recruited
and aged 2055 months of age at the time of assessment.
Informed consent was obtained from the participants
parent/caregiver prior to the assessment. The sample consisted of 185 young children. The DSM-IV PDD (APA
2000) group (n = 126) included those with either Autistic
Disorder (n = 103) or PDD-NOS (n = 23). Developmental delay was present in 91.74 % (n = 111) of children in
the PDD group. Comorbid diagnoses were given for four
children in the PDD group (Mixed Receptive-Expressive
Language Disorder, n = 1; Expressive Language Disorder,
n = 1; Attention Deficit Hyperactivity Disorder, n = 2.).
The non-PDD group (n = 59) was a heterogeneous group
that consisted of children with Mixed Receptive-Expressive Language Disorder (n = 17), Expressive Language
Disorder (n = 4) or no DSM-IV clinical diagnosis
(n = 38; Axis 1 or 2). Developmental delay was present in
66.10 % (n = 39) of the non-PDD group. Sample characteristics are described in Table 1. The PDD and non-PDD
groups significantly differed in terms of gender, v2(1,
N = 185) = 7.8, p \ .01, adaptive behaviour skills,
t(182) = 5.30, p \ .001 and developmental level,
t(183) = 6.49, p \ .001.
Measures
Autism symptoms were assessed using the ADI-R (Rutter
et al. 2003) and ADOS (Lord et al. 2000, 2001). ADOS
modules were administered according to expressive language ability (Module 1 n = 171; Module 2 n = 14).
Developmental level was assessed using either the Wechsler Preschool or Primary Scale of Intelligence (WPPSI-III;
Wechsler 2002) or the Psychoeducational Profile-Revised
(PEP-R; Schopler et al. 1990). The PEP-R has good
internal consistency (a = .85.98) and is correlated with
another measure of nonverbal intelligence (Steerneman
Table 1 Sample characteristics
according to DSM-IV
classification

Procedure
Consensus DSM-IV diagnoses (APA 2000) were given by
psychologists experienced in the assessment and diagnosis
of autism and developmental disorders (Gray et al. 2008a,
b). DSM-5 classifications were based on item assignments
from the ADOS and ADI-R, a method utilised in other
PDD
Mean (SD) (n = 126)

Non-PDD
Mean (SD) (n = 59)

Total
Mean (SD) (N = 185)

Males [n (%)]

112 (88.89 %)*

42 (71.19 %)

154 (83.24 %)

Age in months

37.90 (6.96)

39.33 (7.77)

38.36 (7.24)

Age range in months

22.2455.36

20.5355.82

20.5355.82

Developmental level

56.81 (20.20)

76.09 (15.45)^

62.96 (20.82)

Developmental level range

14.49139.45

45.77106.29

14.49139.45

Language delay [n (%)]

121 (96.03 %)

56 (94.92 %)

177 (95.68 %)

Vineland ABC

62.00 (12.05)

71.88 (11.27)^

65.12 (12.65)

DBC-P total problem behaviour

0.47 (0.26)

0.42 (0.27)

0.45 (0.26)

* p \ .01
^ p \ .001

123

et al. 1997). Interrater reliability of the PEP-R has been

established (Schopler et al. 1990). Developmental level
was calculated using the WPPSI-III Full Scale IQ (n = 6)
or PEP-R developmental quotient (n = 179), a ratio of
developmental age to chronological age. Children were
identified as having a developmental delay if their developmental age was 6 months or more below their chronological age. Adaptive behaviour skills were assessed using
the Vineland Adaptive Behavior Scales (VABS) survey
form (Sparrow et al. 1984). The Adaptive Behavior Composite (ABC) provides a standardised score of overall
adaptive skills. The Reynell Developmental Language
Scales (RDLS-III) were used to assess expressive and
receptive language abilities (Edwards et al. 1997). Children
were identified as having a language delay if their
expressive or receptive abilities were 6 months or more
below their chronological age.
The Developmental Behaviour Checklist Primary Carer
version (DBC-P) was used to assess child behavioural and
emotional problems (Einfeld and Tonge 2002). Parents/caregivers rate items on a scale of 02, with higher
scores indicating greater behaviour and emotional problems. Items are summed, providing a Total Behaviour
Problems Score (TPBS). For the purposes of this study,
items from the DBC-Early Screen (DBC-ES), an autism
screening tool (Gray and Tonge 2005), were removed from
the TPBS prior to analyses to assess behaviour problems
independent of autism symptomatology. Scores were then
divided by the number of contributing items to calculate
Mean Item Scores (MIS; Taffe et al. 2008).

J Autism Dev Disord

studies (Barton et al. 2013; Huerta et al. 2012; Mazefsky

et al. 2013). Individual ADOS and ADI-R items were
assigned to each of the DSM-5 ASD subdomains, guided
by the procedures of two other studies (Barton et al. 2013;
Huerta et al. 2012), in conjunction with the published
DSM-5 diagnostic criteria (APA 2013). The ADOS and
ADI-R item assignments were completed independently
and then compared to the item assignments completed by
Barton et al. and Huerta et al. With the exception of one
ADI-R item (item 51 relating to social smiling); all item
assignments used in the present study were consistent with
those used by Huerta et al.
Where the rationale for assignments was unclear, further
information was sought from the study authors. Item
assignments for the present study are available in the
Appendices of ESM. Each item only contributed to one
DSM-5 subdomain and not all items were assigned. ADI-R
and ADOS item codes ranged from 0 to 2, following
standard conversions of 3s to 2s and 8s to 0s (Lord et al.
2001; Rutter et al. 2003). Codes of 0 indicated the absence
of a subdomain symptom while codes of 1 or 2 indicated
the presence of a subdomain symptom. Codes contributing
to each DSM-5 subdomain were summed based on information from the ADI-R alone, followed by combining the
ADI-R and ADOS. Classifications based on the ADOS
alone were not possible due to the lack of items relevant to
three subdomains.
The total points required as evidence for each DSM-5
subdomain impact sensitivity and specificity. As such, cutoffs of 1 and 2 for each subdomain were evaluated, with a
cut-off of 2 consisting of at least two scores of 1 or one
score of 2. Consistent with final DSM-5 criteria, an ASD
diagnosis required all three Social-Communication subdomains and two of the four RRB subdomains. The present
study did not have sufficient information to classify children with DSM-5 Social Communication Disorder.
Statistical Analyses
Sensitivity and specificity calculations were completed
using DAG-Stat (Mackinnon 2000). Further analyses were
completed using Stata Version 13. Regression analyses
assessed whether children with PDD who did not meet
DSM-5 criteria (false negatives) differed from those with
PDD who met DSM-5 criteria (true positives) according to
chronological age, developmental level, adaptive behaviour skills, and behaviour and emotional problems. For
categorical variables (gender, language delay), Fishers
exact tests were used due to the small sample sizes in each
group. Comparisons were made based on DSM-5 classifications using a cut-off of 2 points from the ADI-R or the
ADOS as evidence for each subdomain. This cut-off was
selected as a code of 2 may indicate a clinically significant

impairment and ASD assessments ideally utilise information from both parent report and child observations.

Results
DSM-5 classifications were based on ADI-R information
alone followed by combining the ADI-R and ADOS. As
shown in Table 2, sensitivity ranged from .95 to .96 and
specificity ranged from .31 to .36 when a code of 1 on any
assigned item was required to meet each subdomain.
Increasing the cut-off to 2 points to meet each subdomain
decreased sensitivity (.76.84) and improved specificity
(.54.61). Modifying the DSM-5 criteria produced particularly high sensitivity (.97) when the required RRB domain
criteria were reduced from two to one, but specificity was
still problematic (.41).
When using information from both the ADI-R and
ADOS and a cut-off of 2 for each subdomain, 20 children
(15.87 %) with PDD did not meet the DSM-5 criteria.
Seven of the 23 children (30.43 %) with PDD-NOS did not
meet DSM-5 criteria compared to 13 of the 103 children
(12.62 %) with Autistic Disorder. One child did not meet
either domain criteria while 16 (80 %) did not meet the
RRB domain criteria. Fifteen of the 16 who had insufficient
RRB symptoms only had RRB symptoms on subdomain
B1 (stereotyped or repetitive motor movements, use of
objects, or speech).
Table 3 shows the true positive, false positive, true
negative, and false negative rates. Children with PDD who
did not meet the DSM-5 diagnostic criteria for ASD (false
negatives) had significantly lower DBC-P scores than
children correctly classified with ASD under the DSM-5
(true positives). However, false negatives and true positives
did not significantly differ in chronological age, developmental level, adaptive behaviour skills (see Table 4) or
according to gender (p = .24, Fishers exact test) or language delay (p = 1.00, Fishers exact test).

Discussion
This study assessed the sensitivity and specificity of the
DSM-5 in young children with PDD or developmental
delay. Overall, the number of children with PDD who did
not meet DSM-5 (APA 2013) ASD criteria ranged from
4.76 to 23.81 %. The results generally indicated good
sensitivity (.76.96); however, this was at the expense of
specificity. As expected, sensitivity was high (.95.96) and
specificity poor (.31.36) when using a liberal cut-off for
subdomains. Barton et al. (2013) reported slightly lower
sensitivity and improved specificity, which may be a result
of differing item assignments and significantly younger

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J Autism Dev Disord

Table 2 Sensitivity and Specificity of the published and modified DSM-5 Autism Spectrum Disorder criteria
Measure

Domain
criteria

Symptom
cut-off

Sensitivity
(95 % CI)

Specificity
(95 % CI)

Efficiency
(95 % CI)

Positive predictive
value

Negative predictive
value

ADI-R

3 SC, 2 RRB

.95 (.90.98)

.36 (.24.49)

.76 (.69.82)

.76 (.69.82)

.78 (.58.91)

ADI-R

3 SC, 2 RRB

.76 (.68.83)

.61 (.47.73)

.71 (.64.78)

.81 (.72.87)

.55 (.42.67)

ADI-R/ADOS

3 SC, 2 RRB

.96 (.91.99)

.31 (.19.44)

.75 (.68.81)

.75 (.67.81)

.78 (.56.93)

ADI-R/ADOS

3 SC, 2 RRB

.84 (.77.90)

.54 (.41.67)

.75 (.68.81)

.80 (.72.86)

.62 (.47.75)

3 SC, 1RRB

.97 (.92 .99)

.41 (.28.54)

.79 (.72.85)

.78 (.70.84)

.86 (.67.96)

2 SC, 2 RRB

.87 (.79.92)

.41 (.28.54)

.72 (.65.78)

.76 (.68.82)

.59 (.42.74)

2 SC, 1 RRB

1.00

.15 (.07.27)

.73 (.66.79)

.72 (.64.78)

1.00

DSM-5

Modified RRB
ADI-R/ADOS
Modified SC
ADI-R/ADOS
Modified both
ADI-R/ADOS

RRB = restricted, repetitive patterns of behaviour, interests, or activities domain; SC = social communication and social interaction domain

Table 3 DSM-5 Autism Spectrum Disorder classifications: False positive, false negative, and true positive rates
Measure

Domain criteria

Symptom cut-off

PDD [n (%)]
True positives

Non-PDD [n (%)]
False negatives

True negatives

False positives

DSM-5
ADI-R

3 SC, 2 RRB

120 (95.24 %)

6 (4.76 %)

21 (35.59 %)

38 (64.41 %)

ADI-R

3 SC, 2 RRB

96 (76.19 %)

30 (23.81 %)

36 (61.02 %)

23 (38.98 %)

ADI-R/ADOS

3 SC, 2 RRB

121 (96.03 %)

5 (3.97 %)

18 (30.51 %)

41 (69.49)

ADI-R/ADOS

3 SC, 2 RRB

106 (84.12 %)

20 (15.87 %)

32 (54.24 %)

27 (45.76 %)

3 SC, 1RRB

122 (96.83)

24 (40.68 %)

35 (59.32 %)

2 SC, 2 RRB

109 (86.51 %)

24 (40.68 %)

35 (59.32)

2 SC, 1 RRB

126 (100 %)

Modified RRB
ADI-R/ADOS
Modified SC
ADI-R/ADOS

4 (3.17)
17 (13.50 %)

Modified Both
ADI-R/ADOS

0 (0 %)

9 (15.25 %)

50 (84.75 %)

RRB = restricted, repetitive patterns of behaviour, interests, or activities domain; SC = social communication and social interaction domain

participants than in the current study (t = 26.24, df = 605,

p \ .0001). Nevertheless, the lower specificity was broadly
consistent with other studies using this method (Huerta
et al. 2012; Barton et al. 2013). As Barton et al. (2013)
observed, an ADOS/ADI-R code of 1 does not necessarily
indicate a clinically significant impairment. Children
without ASD may display symptomology and receive
codes of 1 on some items. As such, a more stringent cut-off
of 2 was also evaluated, improving specificity (.54.61).
The inevitable trade-off between sensitivity and specificity presents an ongoing challenge in the ASD diagnostic
process. Some researchers have argued for the DSM-5
criteria to be modified due to sensitivity concerns (e.g.
Barton et al. 2013; Gibbs et al. 2012; Mayes et al. 2013)
whilst others have indicated support for the more stringent

123

criteria (Kent et al. 2013; Huerta et al. 2012). In the present

study, optimal sensitivity (.97) was obtained by modifying
the RRB domain criteria, reducing the required subdomains
from two to one. This result is unsurprising given that the
majority with PDD who did not meet DSM-5 criteria
(66.780.0 %) had insufficient symptoms on the RRB
domain, typically displaying only subdomain B1 symptomatology (stereotyped or repetitive motor movements,
use of objects or speech).
These findings may reflect the presentation of RRBs in
young children with autism. Repetitive use of objects,
hand/finger mannerisms and unusual sensory interests are
common in younger children with autism or developmental
delay (Richler et al. 2007; Mooney et al. 2006). RRBs such
as compulsions and rituals, difficulties with changes in

J Autism Dev Disord

Table 4 Means and regression coefficients for false negatives and true positives
False negatives (SD) (n = 20)

True positives (SD) (n = 106)

Age in months

36.33 (7.24)

38.20 (6.90)

Developmental level

53.68 (16.63)

57.40 (20.83)

3.72

Vineland ABC

64.58 (11.29)

61.54 (12.18)

-3.04

0.36 (0.19)

0.49 (0.27)

DBC-P total problem behaviour

Regression coefficients (unstandardized)

1.87

0.14*

* p \ .05

routine, and resistance to trivial changes in the environment are less commonly endorsed in young children
whether they have autism or not (Richler et al. 2007),
however, they increase with age (Richler et al. 2010). As
such, young children with autism may not yet display
significant symptomatology across more than one RRB
subdomain.
The current study also examined the characteristics of
children with PDD who did not meet the DSM-5 diagnostic
criteria for ASD. Children without DSM-5 ASD had significantly lower rates of parent reported behavioural and
emotional problems than children correctly classified with
DSM-5 ASD. Consistent with previous studies, the current
findings suggest that gender and chronological age do not
appear to differentiate children with PDD who did not meet
the DSM-5 ASD criteria (Gibbs et al. 2012; McPartland
et al. 2012; Matson et al. 2012; Taheri and Perry 2012;
Mayes et al. 2014; Turygin et al. 2013). However, given
the smaller number of females in these studies, gender
differences may be more difficult to detect. Contrary to
research in older samples (Mattila et al. 2011; Mayes et al.
2014; McPartland et al. 2012; Taheri and Perry 2012;
Taheri et al. 2014), the developmental level of children
with PDD who did not meet the DSM-5 criteria was not
significantly different from that of children who met the
criteria. In addition, children were not differentiated by
language delay or adaptive behaviour skills.
Overall, it is concerning that a proportion of children
with PDD less than 5 years of age may not meet the DSM5 diagnostic criteria for ASD. Without a DSM-5 ASD
diagnosis, children may not have access to early intervention services. Although they may have lower rates of
comorbid behavioural and emotional problems and have
fewer core symptoms according to the DSM-5 configuration of ASD, the clinically significant autism symptoms
warranted a PDD diagnosis according to the DSM-IV, thus
indicating the need for intervention services. Furthermore,
the majority of children with PDD that did not meet DSM5 ASD criteria had symptoms on all but one of the required
ASD subdomains, indicating deficits across a number of
areas that would warrant intervention.
The low specificity identified in the current study is of
concern as the use of diagnostic criteria with adequate

sensitivity at the expense of specificity may result in a high

number of false positives. However, the low specificity may
reflect the methodology used to classify children with ASD.
Prospective research using best-estimate clinical diagnoses
across the two sets of diagnostic criteria may result in higher
specificity compared to the current study. Furthermore, the
study is limited by the psychometric properties of the
measures used to inform DSM-IV best estimate diagnoses
and classify children according to the DSM-5 ASD criteria
(the ADI-R and ADOS). For example, less than optimal
rates of ADI-R sensitivity (.53.83) and specificity (.67.72)
in children aged 55 months and under may have contributed
to some loss of sensitivity and specificity in the current study
(e.g. Ventola et al. 2006; Risi et al. 2006; Gray et al. 2008a).
As such, the content of ADI-R may need to be revised to
improve diagnostic sensitivity and specificity in young
children with autism. Overall, the DSM-5 ASD criteria
require further prospective evaluation using best-estimate
diagnoses before the criteria may be endorsed for young
children less than 5 years of age.
The findings nevertheless raise the question of whether the
DSM-IV diagnostic criteria were over-inclusive and whether
the DSM-5 diagnostic criteria may more accurately diagnose
children with autism. Given that diagnoses are currently
based on behaviour, it is difficult to obtain a consensus among
clinicians regarding the number and severity of symptoms
that should be required to warrant a diagnosis of ASD.
Prospective research is necessary to explore the whether the
DSM-5 ASD criteria best distinguishes between those with
and without ASD in early childhood or whether further
revisions to the criteria are required.
It is important to note that the majority of the current
sample consisted of young children with Autistic Disorder
and other PDD subtypes (e.g. PDD-NOS). As the focus of
the study was on young children, the findings cannot be
generalised to older children and adolescents. A further
limitation was that child developmental delay was defined
as a delay in ability (general development and language
abilities) that was 6 months or more below their chronological age. As such, percentage delay will differ based on
chronological age.
The authors recognise that the psychometric evaluation
of the DSM-5 using the DSM-IV criteria as the baseline is

123

J Autism Dev Disord

inherently problematic. Although the DSM-IV diagnostic

criteria are imperfect, the absence of an alternative gold
standard baseline diagnosis necessitated the use of the
DSM-IV criteria in the current study. The study did not
classify children according to the DSM-IV and DSM-5 in
an equivalent manner. The aim of this study was to
examine retrospective DSM-5 classifications against best
estimate DSM-IV diagnosis and the methodology was
equivalent to that of Barton et al. (2013) and Huerta et al.
(2012), enabling results to be compared across studies.
Participants were retrospectively classified based on ADOS
and ADI-R scores given prior to the development of the
DSM-5. These classifications may not necessarily reflect
DSM-5 diagnoses given by an experienced clinician at the
time of assessment. For example, the ADI-R does assess a
childs apparent indifference to pain or temperature, listed
as an example symptom under subdomain B4 in the DSM5 (American Psychiatric Association 2013). Taken together, replication of the findings is required using best-estimate diagnoses across the two sets of diagnostic criteria.
Assigning items to DSM-5 diagnostic criteria is a difficult process and assignments may differ between studies
(Huerta et al. 2012; Barton et al. 2013). Furthermore, the
number of ADI-R and ADOS items suitable for each DSM5 subdomain was highly variable and fewer items applied
to nonverbal children and children of particular ages. The
greater number of items mapped to the Social-Communication compared to the RRB domain may have also
impacted the results. Although the study would have ideally had a comparable number of items per subdomain; this
was not possible given the items currently contained in the
ADOS and ADI-R. Although not unique to the DSM-5, the
current method highlights the complexities of operationalising diagnostic criteria in standardised measures of
symptoms. Given that ASD diagnoses are currently based
on behaviour, improving assessment tools and diagnostic
processes is critical in future research.

Conclusion
The present study is one of the very few DSM-5 studies
focusing specifically on young children less than 5 years of
age. The research addresses a significant gap in the DSM-5
ASD literature and provides new insights into the characteristics of young children with PDD who may not meet the
DSM-5 diagnostic criteria for ASD. The results indicated
good sensitivity and problematic specificity for the DSM-5
ASD criteria in a sample of 185 young children. Children
with PDD who did not meet DSM-5 criteria, on average
had lower comorbid behaviour and emotional problems
and the majority had insufficient symptoms on the RRB
domain. Gender, developmental level, language delay and

123

adaptive behaviour skills did not significantly impact

DSM-5 classification.
Future studies could examine the impact of comorbid
behaviour and emotional problems on DSM-5 sensitivity
and specificity in older children and adolescents with autism. The impact of modifying the DSM-5 criteria on sensitivity and specificity also needs to be investigated in
children across a range of developmental levels. Overall,
prospective field trials comparing best-estimate DSM-IV
and DSM-5 diagnoses following diagnostic evaluations for
autism are necessary to advance research in this area.
Examining the possible reasons for any discrepancies may
guide future revisions to the DSM and revisions to diagnostic instruments such as the ADOS and ADI-R to enable
better differentiation between those with and without ASD.
Acknowledgments This study utilised data collected as part of a
project funded by the National Health and Medical Research Council
of Australia, awarded to A/Prof Kylie Gray and Prof Bruce Tonge.
The authors thank the families who participated in the project and the
research team who assisted with data collectionDeborah Sweeney,
Dr Helen Jeges, Caroline Keating, Dr Erin Mooney, and Dr Sally
Herring. A preliminary version of the paper was orally presented at
the Australasian Society for Autism Research (ASfAR) Conference,
Bundoora, Australia in December 2014.
Author Contributions JAC contributed to the coordination of the
study, completed statistical analyses with JT and drafted the manuscript; KMG designed and coordinated the study, acquired the original data, and participated in the writing of the manuscript; JT
performed the statistical analyses; BJT participated in the data collection and design of the study, and reviewed the manuscript. All
authors read and approved the final manuscript.
Funding The collection of the data used in this study was funded by
the National Health and Medical Research Council of Australia
(Project Number 236834), awarded to Kylie M. Gray and Bruce J.
Tonge.
Compliance with Ethical Standards
Conflict of interest
of interest.

The authors declare that they have no conflict

Ethical Approval This study was granted approval from the

Monash University Human Research Ethics Committee. 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. This article
does not contain any studies with animals performed by any of the
authors.
Informed Consent Informed consent was obtained at the time of
assessment from all parents of participants included in the study.

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