DSM-5 and Proposed Changes to the Diagnosis of Autism
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FEATURE
DSM-5 and Proposed Changes
to the Diagnosis of Autism
W. David Lohr, MD; and Peter Tanguay, MD
W
hen the American Psychiat- that, for the clinician, it should be easier to meet criteria for SCD will meet eligibility
ric Association releases the diagnose ASD than trying to distinguish for medical and educational services.6
Diagnostic and Statistical between high-functioning autism (HFA) Overall, the changes should result in
Manual of Mental Disorders, fifth edition and Asperger’s disorder. In addition, the more reliable and valid diagnoses, with
(DSM-5) next month, children currently vague diagnosis of pervasive develop- estimates of individual severity and as-
diagnosed with autism may lose access mental disorder not otherwise specified sociated conditions. It will remain impor-
to services. Modifications to the proposed (PDD-NOS) has been replaced, in part, by tant for clinicians to take a thoughtful and
criteria have been suggested to address social communication disorder (SCD) (see complete history and combine information
concerns of sensitivity. Table 1, page 162). from multiple sources with clinical obser-
Questions have already been raised vation to diagnose children with ASD with
IMPLICATIONS OF DSM-5 about the appearance of a new diagnosis, improved specificity.
The American Psychiatric Associa- SCD, that describes children with difficul- For clinicians and families, the singular
tion’s stated goals for the changes to its di- ties in the pragmatics of verbal and nonver- question is whether the new criteria will
agnostic criteria for autism spectrum disor- bal communication, leading to impaired change access to treatment and/or educa-
der (ASD) in DSM-5 are to “accurately and social function. This disorder excludes an tional services. Studies have noted that indi-
completely identify” individuals with au- autism diagnosis, and thus rules out the viduals with a diagnosis of Asperger’s dis-
tism by production of reliable and valid di- presence of restrictive, repetitive behaviors order or PDD-NOS, those with higher IQ,
agnostic criteria1 in order to offer a clearer, (RRBs);3 however, SCD seems to resem- and female patients may be at most risk.4
simpler, more reliable diagnostic scheme ble mild autism or PDD-NOS.4,5 Questions This could impact whether children with
and recognize the “essential shared fea- remain about how the criteria for SCD will an established DSM-IV diagnosis of As-
tures of the autism spectrum.”2 This means be implemented, and whether children who perger’s disorder or PDD-NOS would need
W. David Lohr, MD, is Assistant Professor of
Pediatrics, Division of Child & Adolescent Psy-
chiatry and Psychology; Associate in the De-
partment of Psychiatry and Behavioral Sciences;
and Co-Clinical Director, University of Louisville
Autism Center, University of Louisville School
of Medicine. Peter Tanguay, MD, is the Spafford
Ackerly Endowed Professor of Child and Adoles-
cent Psychiatry (Emeritus) in the Department of
Psychiatry and Behavioral Sciences, University of
Louisville School of Medicine.
Address correspondence to: W. David Lohr,
MD, University of Louisville Autism Center, 200
E. Chestnut Street, Louisville, KY 40202; fax: 502-
852-1055; email: wdlohr01@louisville.edu.
Disclosure: The authors have no relevant fi-
© Shutterstock
nancial relationships to disclose.
doi: 10.3928/00904481-20130326-12
PEDIATRIC ANNALS 42:4 | APRIL 2013 Healio.com/Pediatrics | 161FEATURE
TABLE 1.
Comparison of Autism Criteria in DSM-IV and DSM-5
DSM-IV DSM-5
A. (1) a. marked impairment in the use of multiple nonverbal aspects of social interaction A2
A. (1) b. failure to develop appropriate peer relationships A3
A. (1) c. lack of spontaneous sharing with other people A1
A. (1) d. lack of social or emotional reciprocity A1
A. (2) a. delay or lack of spoken language ?
A. (2) b. impaired ability to initiate or sustain a conversation A1
A. (2) c. stereotypical and repetitive language B1
A. (2) d. lack of make-believe or imitative play A3
A. (3) a. stereotypical and restricted patterns of interest B3
A. (3) b. inflexible adherence to rituals or routines B2
A. (3) c. stereotypical and repetitive motor movements B1
A. (3) d. persistent preoccupations with parts of objects B3
None B4
B. delays in at least one of three areas with onset prior to age 3 years of social interaction, language used as A1 and A3 with onset in early childhood
(1) social communication, (2) symbolic or (3) imaginative play, or (4) hyper-or hypo-reactivity to sensory input
re-evaluation per the DSM-5 criteria. The with a range of criteria (polythetic) could Concerns about the DSM-IV and ASD
question then becomes whether insurance be applied during diagnosis, leading to a Questions about how the DSM-IV ad-
companies and educational systems contin- more heterogeneous diagnostic group10 dresses ASD led to revisions in the DSM-
ue to accept these diagnoses for coverage. DSM-IV, published in 1994 (see Table 2, 5. First, the number of possible symptom
Improved ability to identify a more ho- page 163), has continued the polythetic combinations in the DSM-IV has been es-
mogenous group of ASD should help those approach.11 To meet the diagnostic crite- timated to be 2,027, with inherent hetero-
researching the condition by improving ria, patients must meet a minimum of six geneity of the diagnostic group.4 Concerns
the ability to detect etiologies, endophe- behavioral criteria subsets: two from social exist also with its reliability and validity. In
notypes, genetic markers, and by strength- impairment; one from communication; and a recent multisite study of 2,102 probands,
ening treatment and outcome data. Yet, one from RRBs. Also, the onset of the con- the best-estimate clinical diagnoses were
questions remain about how the proposed dition must be prior to age 3 years. compared with those from standardized
changes will affect the compatibility of fu- diagnostic instruments.12
ture research with prior research and how Introduction of Asperger’s Disorder Experts differed on how they inter-
the criteria will mesh with International The DSM-IV requires that for an As- preted DSM-IV criteria, even though the
Classification of Diseases, eleventh revi- perger’s disorder diagnosis, the patient reliability of the data from the standard-
sion (ICD-11) standards.7 meet a minimum of three criteria: two from ized interviews was good. Patterns of
social impairment and one from RRB. As- diagnosis were identifiable according to
HISTORY OF AUTISM IN THE DSM perger’s disorder differs from autism in that regional sites, with factors such as ver-
Although autism was first described by there can be no communication impairment bal IQ and language level influencing the
Kanner in 1935,8 it was not considered a or delay in language, and no age of onset process.
formal psychiatric diagnosis until the re- by 3 years. Also, there can be no delay in Also, research has not identified mean-
lease of DSM-III in 1980.9 In this system, cognitive development or nonsocial adap- ingful differences between DSM-IV-text
to be diagnosed with autism, individuals tive behavior. DSM-IV criteria for PDD- revision (published in 2000) subtypes of
had to meet all diagnostic criteria (mono- NOS are for subthreshold presentations of ASD controlled for IQ and language.13
thetic) and the categories described a con- autistic symptoms featuring impairment In particular, Asperger’s disorder is not
dition similar to classical autism.4,9 in social or communicative functioning or thought to be distinct from HFA with little
In the 1987 DSM-III-R version, a subset RRB (see Table 2, page 163). support of DSM-IV distinction.2,14,15
162 | Healio.com/Pediatrics PEDIATRIC ANNALS 42:4 | APRIL 2013FEATURE
Diagnostic Challenges of Asperger’s TABLE 2.
Disorder
Asperger’s disorder is difficult to di- Diagnostic Criteria for
agnose using DSM-IV criteria because Autistic Disorder from DSM-IV
accurately measuring language delays A. A total of six (or more) items from (1), (2), and (3), with at least two from (1), and one each from
(2) and (3):
retrospectively is a challenge, as is clini-
(1) Qualitative impairment in social interaction, as manifested by at least two of the following:
cally distinguishing these patients from
(a) marked impairments in the use of multiple nonverbal behaviors such as eye-to-eye gaze,
those with autism.2 In addition, As-
facial expression, body posture, and gestures to regulate social interaction;
perger’s disorder diagnoses have been
(b) failure to develop peer relationships appropriate to developmental level;
shown to be unreliable between expert
(c) a lack of spontaneous seeking to share enjoyment, interests, or achievements with other
clinicians.12 It is also important to note people, (eg, by a lack of showing, bringing, or pointing out objects of interest to other people); and
children with autism who met language (d) lack of social or emotional reciprocity (note: in the description, it gives the following as
milestones before the age of 3 years may examples: not actively participating in simple social play or games, preferring solitary activities,
have the same adult outcome as those or involving others in activities only as tools or “mechanical” aids).
children with autism who did not.16 (2) Qualitative impairments in communication as manifested by at least one of the following:
The DSM-IV criteria also have been (a) delay in, or total lack of, the development of spoken language (not accompanied by an
faulted with how well they diagnose au- attempt to compensate through alternative modes of communication such as gesture or mime);
tism in children younger than 5 years, (b) in individuals with adequate speech, marked impairment in the ability to initiate or
adolescents, females, and ethnic minority sustain a conversation with others;
groups.1 These concerns with the limita- (c) stereotyped and repetitive use of language or idiosyncratic language;
tions of DSM-IV have been raised over the (d) lack of varied, spontaneous make-believe play or social imitative play appropriate to
developmental level.
last 20 years by researchers in the area of
(3) Restricted repetitive and stereotyped patterns of behavior, interests and activities, as mani-
diagnosis and classification of autism spec-
fested by at least two of the following:
trum disorders and have prompted the de-
(a) encompassing preoccupation with one or more stereotyped and restricted patterns of
velopment of the criteria found in DSM-5. interest that is abnormal either in intensity or focus;
(b) apparently inflexible adherence to specific, nonfunctional routines or rituals;
CHANGES IN THE DSM-5 (c) stereotyped and repetitive motor mannerisms (eg, hand or finger flapping or twisting, or
In the DSM-5, autism, Asperger’s disor- complex whole-body movements);
der, and PDD-NOS will be combined into (d) persistent preoccupation with parts of objects.
a single category of ASD6 and supplement- B. Delays or abnormal functioning in at least one of the following areas, with onset prior to age
ed with a dimensional aspect for assessing 3 years: (1) social interaction, (2) language as used in social communication, or (3) symbolic or
the level of dysfunction. This is important imaginative play.
because social communication function C. The disturbance is not better accounted for by Rett’s disorder or childhood disintegrative
disorder.
appears to be distributed in a continuous
fashion across the general population.17,18 Source: American Psychiatric Association11
In particular, the domains for social and
communication problems have been com-
bined into one set of deficits, labeled,“social ent in the DSM-5, compared with six of 12 terests by history or direct observation is
communication and interactive problems.” symptoms required by the DSM-IV (see thought to increase the stability of the diag-
The set of symptoms for restricted, repeti- Table 3, page 164). nosis of ASD over time. The criteria now
tive interests remains, but unusual sensory The deficits in communication and include symptoms for abnormal sensory
behaviors have been added to their diag- social behaviors were combined into one behaviors. This improves the relevance of
nostic set. domain because the Autism Work Group the criteria to younger children with ASD,
The DSM-5’s approach to social com- of the DSM-5 Committee believed the two because sensory issues are common con-
munication symptoms is monothetic, re- represent a similar impairment.5 Because cerns in this population.
quiring that individuals meet all criteria a delay in language is not believed to be The development of the DSM-5 has
from the social-communicative set; for unique or universal in ASD, this criterion been based on literature review, expert
RRB, the DSM-5 is polythetic, requiring is eliminated altogether. consultations, work group discussions,
that two of four symptoms be present. In The requirement for two symptom sets and secondary analysis of data sets. As
all, five of seven symptoms must be pres- for repetitive behaviors and fixated in- noted, making the diagnosis should be
PEDIATRIC ANNALS 42:4 | APRIL 2013 Healio.com/Pediatrics | 163FEATURE
easier for the pediatrician since the crite- TABLE 3.
ria are designed to promote more agree-
ment between clinicians. DSM-5 Proposed Criteria for Autism Spectrum Disorders
A. Persistent deficits in social communication and social interaction across contexts, not ac-
counted for by general developmental delays, and manifest by all three of the following:
EVIDENCE FOR AND AGAINST
1. Deficits in social-emotional reciprocity; ranging from abnormal social approach and failure of
DSM-5 CHANGES
normal back and forth conversation through reduced sharing of interests, emotions, and affect
Several studies have been conducted and response to total lack of initiation of social interaction.
to determine how DSM-5 changes will 2. Deficits in nonverbal communicative behaviors used for social interaction; ranging from
affect the ASD population. Mattila et al19 poorly integrated verbal and nonverbal communication, through abnormalities in eye contact
compared DSM-IV criteria with early draft and body language, or deficits in understanding and use of nonverbal communication, to total
criteria for the DSM-5 in 82 individuals lack of facial expression or gestures.
derived from an epidemiological sample 3. Deficits in developing and maintaining relationships, appropriate to developmental level (be-
of 5,484 8-year-olds. The DSM-5 group yond those with caregivers); ranging from difficulties adjusting behavior to suit different social
contexts through difficulties in sharing imaginative play and in making friends to an apparent
was less sensitive for HFA (IQ > 70) and
absence of interest in people.
Asperger’s disorder, but the group was an
B. Restricted, repetitive patterns of behavior, interests, or activities as manifested by at least two
earlier version later updated by the Neuro- of the following:
developmental Disorders Workgroup. For 1. Stereotyped or repetitive speech, motor movements, or use of objects; (such as simple motor
patients with HFA, 73% were identified stereotypies, echolalia, repetitive use of objects, or idiosyncratic phrases).
by the DSM-5 but none of 11 subjects with 2. Excessive adherence to routines, ritualized patterns of verbal or nonverbal behavior, or exces-
Asperger’s disorder were identified using sive resistance to change; (such as motoric rituals, insistence on same route or food, repetitive
the DSM-5 criteria. questioning or extreme distress at small changes).
The study’s authors suggested five 3. Highly restricted, fixated interests that are abnormal in intensity or focus; (such as strong at-
tachment to or preoccupation with unusual objects, excessively circumscribed or perseverative
modifications to relax the DSM-5 criteria
interests).
and create a “mild” version of autism com-
4. Hyper-or hypo-reactivity to sensory input or unusual interest in sensory aspects of environ-
pared with the “strict version” identified ment; (such as apparent indifference to pain/heat/cold, adverse response to specific sounds or
by the DSM-5. After the authors modified textures, excessive smelling or touching of objects, fascination with lights or spinning objects).
the DSM-5 criteria, 96% of overall subjects C. Symptoms must be present in early childhood (but may not become fully manifest until social
were identified. No information is offered demands exceed limited capacities)
on effects of specificity.19 D. Symptoms together limit and impair everyday functioning.
Supporting evidence was provided by
Source: American Psychiatric Association5
Mandy et al20 who reported that the DSM-
5 offered improved construct validity over
DSM-IV-TR by improving the criteria lan- er’s disorder or those youth whose early life disorder was only 25%. They concluded
guage and by the inclusion of hyper- and symptoms are not easily obtained. Overall, the new criteria could have detrimental
hyposensory abnormalities as part of the the study’s superior specificity validated clinical and research effect. Others have
symptoms cluster. the DSM-5.21 questioned the validity of their findings
In a large analysis of siblings by Frazier However, different conclusions were given the historical data and methods.1
et al21 from the Interactive Autism Net- found by McPartland et al4 in a sample of Matson and colleagues22,23 have pub-
work, 8,911 siblings were found to have 933 subjects from a previous DSM-IV field lished several studies comparing the DSM-
ASD; 5,863 did not. Compared with the trial of which 657 were diagnosed with IV with the DSM-5 and conclude the pro-
DSM-IV TR, the proposed criteria show ASD. This group was evaluated with pro- posed changes will lead to 30% to 45% of
greater specificity to reduce false-positive posed DSM-5 criteria and sensitivity and children, adolescents, and adults classified
diagnoses but slightly lower sensitivity so specificity were measured. In this group, with ASD per DSM-IV-TR to not meet cri-
more false-negative diagnoses may result, 60.6% of ASD cases meet revised DSM- teria for ASD with DSM-5.
especially with females. 5 criteria for ASD with a specificity of The most recent study to date estimated
Frazier et al21 proposed relaxing the 94.9%. Those with IQ > 70 and Asperger’s how many children diagnosed with PDD
DSM-5 criteria by requiring one less symp- disorder were less likely to be diagnosed or non-PDD using the DSM-IV-TR will
tom criteria of SCI or RRB to increase sen- according to the DSM-5. For example, the no longer meet the necessary criteria for
sitivity by 11% to 12%. This may be very sensitivity of the DSM-5 criteria to diag- ASD under DSM-5. Using data from 4,453
pertinent for those diagnosed with Asperg- nose ASD in DSM-IV cases of Asperger’s children with a clinical PDD diagnosis,
164 | Healio.com/Pediatrics PEDIATRIC ANNALS 42:4 | APRIL 2013FEATURE
TABLE 4.
Studies Comparing Diagnosis of ASD in DSM-IV and DSM-5
Study / year Number of Subjects Type of Sample Instruments Used Results Limitations
Mattila et al19 / 2011 82 Screened epide- ADI-R, ADOS, early DSM- DSM-5 was less sensitive Early DSM-5 criteria,
miological sample 5 criteria than DSM-IV for ASD, prevalence for
diagnosed with DSM- (0.46) PDD-NOS was not
IV criteria examined
Mandy et al20 / 2012 708 Consecutive referrals 3Di DSM-5 model was supe- Higher functioning
to an autism spe- rior to DSM-IV sample, 3Di is a DSM-
cialty clinic IV derived tool
Frazier et al21 / 2012 14,744 siblings Family-selected Mapped caregiver rated DSM-5 had lower sensi- Early DSM-5 criteria,
(8,911 with autism) internet registry SRS and SCQ to DSM-5 tivity, (0.81 vs. 0.95) but self-selected sample,
criteria greater specificity, (0.97 reliance on caregiver
vs. 0.86) than DSM-IV reports only
McPartland et al4 / 933 (657 diagnosed Multicenter DSM-IV Algorithm of items 60.6% of cases with ASD Included only 48
2012 with ASD) field trial database, from DSM-IV mapped to met DSM-5 criteria with DSM-IV subjects with
with clear reliability match DSM-5 criteria a specificity of 94.9% Asperger’s disorder,
data modified a historical
data set to new criteria
Matson et al22,23 / 2,721 toddlers aged EarlySteps partici- Clinical judgment using 52.2% of toddlers were Single author review
2012 17-36 months pants diagnostic algorithms diagnosed with ASD by of evaluations based
DSM-5 on DSM-IV
Gibbs et al13 / 2012 132 youth Referred to tertiary ADOS, ADI-R 76.5% of participants ADOS and ADI-R are
autism clinic for ini- were diagnosed with DSM-IV based tools
tial evaluation ASD by DSM-5
Taheri and Perry33 131 children aged Retrospective file CARS, DSM-IV checklist 62.6% of total sample No Asperger’s disor-
/ 2012 2-12 years review met diagnosis of ASD by der patients, DSM-5
DSM-5 criteria were evalu-
ated by checklist
Huerta et al24 / 2012 5,143 subjects, Data sets from fam- ADI-R and ADOS DSM-5 identified 91% More severe clinical
4453 had PDD ily genetics study, matched to DSM-IV and of children with PDD sample, retrospective
university and autism DSM-5 criteria. Included diagnoses. Overall speci- data analysis
center databases parent report and/or ficity was low, (0.53) but
direct observation improved over DSM-IV
3Di = Developmental, Dimensional, and Diagnostic Interview; ADI-R = Autism Diagnostic Interview, ADOS = Autism Diagnostic Observation Schedule; ASD = autism spectrum disorder; CARS = Child-
hood Autism Rating Scale; NOS = not otherwise specified; PDD = pervasive developmental disorder; Revised; SCQ = Social Communication Questionnaire; SRS = Social Responsiveness Scale.
and from 690 children with a non-PDD di- not meet the DSM-5 criteria did not dem- three to two,4,19,21,23,24 there have also been
agnosis, data from the Autism Diagnostic onstrate required impairments in social and proposals to change the number of RRB
Interview, Revised (ADI-R) and Autism communication functioning.24 To date, data criteria from two to one.13,23 Another the-
Diagnostic Observation Schedule (ADOS) from studies on the effectiveness of ASD ory is that relaxing the onset criteria may
was matched to the DSM-5 criteria. In this diagnostic criteria have been retrospective. improve the ability to detect early social
study, it was found that most children who The most stringent have used diagnostic in- interaction problems, thus improving sen-
received a diagnosis of one of the PDDs struments based on the DSM-IV; however, sitivity.19,25 These changes would likely
under the DSM-IV would receive the diag- the two studies with the largest sample size increase sensitivity while maintaining ac-
nosis of ASD under the DSM-5.23 show the highest levels of sensitivity for ceptable specificity.4,21
The overall sensitivity of the two were DSM-5 (see Table 4). Work on the DSM-5 continues, and as
similar: the DSM-5 criteria identified 91% it nears publication more accurate esti-
of children with a clinical DSM-IV diagno- CALLS FOR MODIFICATION mates of sensitivity and specificity will be
sis of PDD, with no change based on gen- OF DSM-5 measured as criteria will be compared in
der or IQ. The specificity was improved in Modifications to the DSM-5 criteria vivo against DSM-IV criteria and the “gold
the DSM-5, especially when impairment in already have been suggested to address standard” of expert diagnosis. Community
social reciprocity and nonverbal behavior these concerns of sensitivity. In addition and clinical populations will be assayed
was required in both the parent report and to the proposals to reduce the criteria for to provide current measures of sensitivity
the clinical observation. Children who did social communication and interaction from and specificity.1
PEDIATRIC ANNALS 42:4 | APRIL 2013 Healio.com/Pediatrics | 165FEATURE
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