Autism and diagnostic

substitution: evidence
from a study of adults
with a history of
developmental
language disorder
Dorothy V M Bishop* DPhil;
Andrew J O Whitehouse PhD;
Helen J Watt BA;
Elizabeth A Line BSc, Department of Experimental
Psychology, University of Oxford, Oxford, UK.
*Correspondence to first author at Department of
Experimental Psychology, University of Oxford,
South Parks Road, Oxford OX1 3UD, UK.
E-mail: dorothy.bishop@psy.ox.ac.uk
DOI: 10.1111/j.1469-8749.2008.02057.x
Published online 31st March 2008
Rates of diagnosis of autism have risen since 1980, raising the
question of whether some children who previously had other
diagnoses are now being diagnosed with autism. We applied
contemporary diagnostic criteria for autism to adults with a
history of developmental language disorder, to discover
whether diagnostic substitution has taken place. A total of 38
adults (aged 1531y; 31 males, seven females) who had
participated in studies of developmental language disorder
during childhood were given the Autism Diagnostic
Observation Schedule Generic. Their parents completed the
Autism Diagnostic Interview Revised, which relies largely
on symptoms present at age 4 to 5 years to diagnose autism.
Eight individuals met criteria for autism on both instruments,
and a further four met criteria for milder forms of autistic
spectrum disorder. Most individuals with autism had been
identified with pragmatic impairments in childhood. Some
children who would nowadays be diagnosed unambiguously
with autistic disorder had been diagnosed with developmental
language disorder in the past. This finding has implications
for our understanding of the epidemiology of autism.

See end of paper for list of abbreviations.

Rates of diagnosis of autism have risen markedly over the

past three decades.1 According to the autism epidemic
hypothesis, the rise is genuine, whereas the diagnostic substitution hypothesis maintains that the true prevalence of
the syndrome is constant but the diagnostic boundaries have
broadened, so that more children who would previously
have had some other diagnosis are now identified with
autism. Specific developmental language disorder is a category where diagnostic substitution seems plausible, given
that: (1) communication problems are a core feature of
autism; (2) there has been debate over diagnostic boundaries between autism and language disorder; and (3) autism
is increasingly being recognized in children with normal IQ.2
We used follow-up data to test the hypothesis that some children diagnosed with developmental language disorder 5 to
25 years ago would currently be diagnosed with autism.
Method
PARTICIPANTS

Participants were drawn from a pool of children who had

taken part in a series of studies of developmental language
disorder conducted in the period 1986 to 2003 (see Table I).
All children had been in receipt of services for children
with language impairments, in most cases attending special
schools. School records had been checked at the time of the
original study for diagnostic information. No child had a previous diagnosis of autistic disorder; indeed, autism was an
exclusionary criterion for admission to the special schools
that were involved in the study. Also excluded from the present study were children who had a known cause for their
language impairment, such as brain injury, a known syndrome, or physical abnormality of the articulators. The quantity and quality of data available from childhood varied from
study to study, but in all cases there was at least one expressive and one receptive language measure, and all participants had a nonverbal IQ of at least 80.
We expected that the subtype of language disorder might
be important, given the long-standing debate about the relationship between autistic disorder and pragmatic language
impairment (PLI), formerly known as semanticpragmatic
disorder.37 Insofar as there is diagnostic substitution, one
would predict that this would be most marked for those with
the characteristics of PLI, because pragmatic oddities in communication are one of the diagnostic features of autism. The
studies shown in Table I took place at a time when the concept of semanticpragmatic disorder was evolving, and PLI
had been identified by a variety of methods. In the early studies, a simple teacher checklist had been used, listing the
symptoms identified by Bishop and Rosenbloom8 and Rapin
and Allen.9 This checklist went through various transformations and ultimately led to the development of the Childrens
Communication Checklist,10 on which a specific cut-off for
PLI was given. For some of the studies in Table I, recruitment
had specifically focused on individuals with PLI, so the proportions with this language profile are higher than would be
expected in this population in general; Conti-Ramdsen et
al.11 found that about 10% of children enrolled in special language classes in the UK had this profile.
For participants in studies performed before 1999, tracing
was conducted through the Office of National Statistics; for
the later studies, direct contact was made with the use of
addresses held on file, but only a subset of participants from

Developmental Medicine & Child Neurology 2008, 50: 341345

341

the final two studies were contacted to avoid over-testing

and to exclude those who had not yet reached adulthood.
Table I shows the number who agreed to receive information
about the study and the number who agreed to participate.
Those who agreed to take part did not differ from the
remainder of the sample (including those we could not contact) in terms of either nonverbal ability or receptive language level in childhood. They represented 26% of cases of
specific language impairment (SLI) and 24% of PLI among
the original study participants.

ization, and repetitive behaviour) as meeting criteria for

ASD. Informed consent was obtained from participants as
well as parents. This research was approved by the Central
University Research Ethics Committee of Oxford University.
One adult participant did not complete ADOS-G (as a
result of psychiatric illness) and three parents did not complete the ADI-R (one set of parents could not be contacted,
and two refused to participate). All of these participants were
male. For the remaining 38 participants, both sources of
information were available. The 31 males and seven females
were between 15 and 31 years of age at follow-up.

AUTISM DIAGNOSTIC ASSESSMENTS IN ADULTHOOD

As part of their diagnostic workup at follow-up in adulthood,

participants were given the Autism Diagnostic Observation
Schedule Generic (ADOS-G)12 by a trained examiner (AW
or EL) and their parents were given the Autism Diagnostic
Interview Revised (ADI-R)13 by a trained interviewer (AW,
HW, or DB). Together, these two instruments provide the criterion standard for autism diagnosis, with the ADOS-G providing contemporaneous information about diagnostic
symptomatology, and the ADI-R providing information about
early development, with a particular focus on the childs
behaviour at age 4 to 5 years. Both instruments provide cutoffs for autism diagnosis, and the ADOS-G also provides cutoffs for pervasive developmental disorder not otherwise
specified; that is, the milder variant of autism, more commonly referred to as autistic spectrum disorder (ASD). On
the ADI-R we coded participants who fell above threshold for
autism on two of the three domains (communication, social-

Table I: Studies from which participants were recruited

Study
reference

Date of data
collection

Bishop et al.25
Bishop et al.26
Bishop et al.27
McArthur et al.28
Bishop et al.4
Norbury et al.29

Nr of individuals Nr of individuals
who received
who agreed to
study information
participate

19861987
1991
1992
19992001
19992001
20022003

23 SLI, 8 PLI
5 PLI
8 SLI, 7 PLI
16 SLI
8 SLI, 7 PLI
4 SLI, 8 PLI

9 SLI, 2 PLI
2 PLI
1 SLI, 5 PLI
9 SLI
1 SLI, 9 PLI
1 SLI, 3 PLI

SLI, specific language impairment; PLI, pragmatic language

impairment.

Table II: ADI-R and ADOS-G diagnoses relative to language

impairment subtype
ADI-R

Unaffected
ASD
Autism

Unaffected

ADOS-G
ASD

Autism

12 SLI, 1 PLI
0 SLI, 5 PLI
1 SLI, 0 PLI

1 SLI, 1 PLI
1 SLI, 0 PLI
1 SLI, 2 PLI

2 SLI, 2 PLI
0 SLI, 1 PLI
0 SLI, 8 PLI

All three participants with no ADI-R data (2 SLI and 1 PLI) were
unaffected on ADOS-G. The one participant with SLI who refused
ADOS-G was unaffected according to ADI-R. ADI-R, Autism Diagnostic
Interview Revised; ADOS-G, Autism Diagnostic Observation
Schedule Generic; ASD, autistic spectrum disorder; SLI, specific
language impairment; PLI, pragmatic language impairment.

342

Developmental Medicine & Child Neurology 2008, 50: 341345

Results
Table II shows the number of participants who fell above cutoffs for autistic disorder in relation to their original subtype
of language impairment. The association between language
subgroup and diagnosis from parental report on ADI-R
was statistically significant (2=16.09, degrees of freedom
[df]=2, p<0.001). The association between language subgroup and diagnosis was again statistically significant when
ADOS-G was the basis for diagnosis (2=9.21, df=2,
p=0.01).
If a strict definition of autism was used, requiring scores
above threshold for autism on both ADI-R and ADOS-G, then
eight of 20 cases of PLI and none of the 18 cases of SLI met the
criterion. In relation to criterion standard consensus
autism diagnosis, this criterion has been shown to give sensitivity and specificity of more than 80% in a US sample.14 A
broader definition, requiring a diagnosis of ASD or autism on
both measures, selected 11 of 20 cases of PLI and two cases of
SLI. For the broadest possible definition, where ASD is diagnosed if ASD criteria are reached on either instrument, then
19 of 20 PLI cases and 6 of 18 SLI cases met the criterion.
However, previous research has shown a significant loss of
specificity when this latter criterion is used, with many nonautistic false positives being included.14
Discussion
A high proportion of people who were regarded as languageimpaired rather than autistic when seen in childhood were
deemed to meet contemporary diagnostic criteria for ASD in
adulthood, on the basis of parental report of childhood
symptoms and/or on the basis of current behaviour. This was
particularly true for those who were judged to have pragmatic impairments in childhood. Most of these individuals were
first seen as children when the diagnostic criteria for autism
came from the Diagnostic and Statistical Manual of Mental
Disorders, 3rd edition (DSM-III) or the revised 3rd edition
(DSM-III-R).15 Both of these schemes, especially DSM-III,
adopted more stringent criteria than are currently used, and
milder forms of autism, currently referred to as ASDs, were
not well recognized. The broadening of diagnostic criteria
for autism is apparent in a recent epidemiological study of
9- to 10-year-old children which found a rate of 24.8 per 10
000 for cases where consensus diagnosis of autism was confirmed by both ADI-R and ADOS-G, rising to 38.9 for all cases
of consensus diagnosis of autism, and to 116.1 per 10 000 for
consensus diagnosis of ASD.16
Diagnostic substitution has previously been studied by
comparing long-term trends in prevalence of autism versus
developmental language disorders in epidemiological data,
but findings have been inconsistent. A UK study using the

General Practice Research Database found a decline in frequency of language disorder that mirrored the increase in
autism,17 but a US study of children enrolled in special education found no such pattern.18 However, it is likely that the
latter study included many children with relatively mild
speech or language difficulties, and this may have masked a
decline in diagnosis of rarer receptive language disorders.
The only other follow-up study of which we are aware that
used algorithms from autism diagnostic instruments with
children diagnosed with developmental language disorder
was performed by Conti-Ramsden et al.19 They studied a
group of children originally recruited from language units
(special classes) at 7 years of age. These children were given
the ADOS-G and their parents were given the ADI-R when the
children were 14 years old. The proportion of participants
who met diagnostic criteria for autism on both ADI-R and
ADOS-G was relatively low (3/76), but in total 11 children
met criteria for autism on ADI-R, and 19 met criteria for ASD
or autism on ADOS-G. These are lower rates than found in
our study, but this could be explained by the fact that most of
the sample were recruited in the early to mid 1990s, after the
publication of DSM-III-R, which used broader diagnostic criteria than DSM-III. In addition, our sample was selected to
include a high proportion of individuals with PLI. ContiRamsden et al. noted that there was no difference on language tests between children who did and did not meet
criteria for an ASD. However, they did not present any data
on childrens pragmatic abilities.
These authors argued against the idea of diagnostic substitution, instead proposing that some children had developed autistic symptoms as they grew older. They noted that
this sample were all definite cases of SLI as late as 7 years of
age, when the stereotypical behaviours and atypical social
skills characteristic of autism would have been visible if they
had been present (p 626). In a similar vein, another study
found autistic-like symptomatology in adulthood in a sample
of individuals originally recruited because of developmental
receptive language disorder in childhood, but the authors
argued that this had developed with age, rather than being
part of the original presentation.20,21 In our sample, this
explanation is most plausible for those participants who did
not show signs of autism according to parental report on the
ADI-R but did score in the ASD or autism range on the ADOSG (three SLI cases and three PLI cases in Table II).
However, for most individuals with autistic symptomatology in the current study, and for just over half of those in the
study by Conti-Ramsden et al., autistic symptoms were evident on parental report on the ADI-R, which uses an algorithm based on behaviour observed at 4 to 5 years of age.
Clearly, one must be cautious about interpreting retrospective reports of early childhood behaviours that are made
some 20 or so years after the event. Furthermore, reports
could be contaminated by parents having read about autism
and thereby developing biased memories of their childs
early development. Nevertheless, we found that parents
often gave vivid and highly specific examples of behaviours
that would lead to a clear coding of abnormality on ADI-R,
despite the fact that nobody had discussed a possible autism
diagnosis with them. Some illustrative vignettes are given in
Appendix I. This provides clear evidence of autistic symptomatology at the time when the children had been diagnosed
with language disorder.

It may seem remarkable that a diagnosis of autism was not

made during childhood for the individuals featured in
Appendix I, especially bearing in mind that these were children who had typically undergone thorough assessments to
access special educational services. There are several reasons
why this might have occurred. One point to note is that these
children were not, in general, particularly problematic for
their parents. Their behaviour, although often odd, was not
usually disruptive to family life. This could have led to a
reluctance of professionals to diagnose autism even when
the signs were marked, because most provision for children
with autism would have catered for children with much
more severe difficulties see, for example, participant PLI07
(Appendix I), who was seen by an expert paediatric neurologist but not given a diagnosis. However, our impression was
that, in most cases, autism was considered an inappropriate
diagnosis because these children were communicative; as
noted by Gernsbacher et al.,22 to qualify for a DSM-III diagnosis of autism, a child had to exhibit a pervasive lack of
responsiveness to other people. In its account of differential
diagnosis from receptive language disorder, DSM-III stated
In Infantile Autism no efforts are made to communicate
or watch faces, whereas in Developmental Language
Disorder, Receptive Type, the children will make eye contact
and will often try to communicate through gestures (p 97).
Such guidelines led clinicians to operate with a view of the
autistic child as locked away in their own world, showing little interest in people, and doing little other than engaging in
stereotyped activities.
Despite their social and communicative oddities, the participants with PLI and autistic features in our current study
did not usually resemble this picture in childhood; they
tended instead to show profiles described by Wing23 as either
passive (see participant PLI10) or active but odd (see participant PLI06). Wing regarded such children as falling on the
autistic spectrum, but they did not show the aloof profile
typical of classic Kanner autism. Children who are active but
odd, for instance, make active social approaches that are
nave, odd, inappropriate and one-sided These children
might show quite complicated play, but observation shows
that it is only concerned with one or a few themes and usually not shared with other children (p 1762). Those following
DSM-III or DSM-III-R guidelines would not regard such children as meeting criteria for autism. However, by DSM-IV-TR24
the differential diagnosis is based on the characteristics of
the communication impairment (e.g. stereotyped use of language) and by the presence of a qualitative impairment in
social interaction and restricted, repetitive, and stereotyped
patterns of behavior (pp 6061). A further point to note is
that it is only with the development of objective diagnostic
assessment in the form of ADI-R that the importance of basing diagnosis on behaviour at a given age (45y) has been
emphasized. This is the age at which symptoms of autism are
typically most pronounced. In some of our participants who
met ADI-R criteria for autism, florid autistic symptomatology
at 4 to 5 years of age had become much less apparent by middle childhood.
A limitation of our study is the small sample size. Although
we succeeded in tracing a relatively high proportion of individuals who had participated in early studies, only 41% of
those contacted volunteered to take part in our follow-up.
This is perhaps not surprising when one considers that we

Autism and Diagnostic Substitution Dorothy V M Bishop et al.

343

were focusing on individuals who had serious communication problems, often associated with poor literacy skills.
Nevertheless, we were able to show that the responders were
representative of the larger pool of potential participants in
terms of language subtype, nonverbal ability, and receptive
language level. The value of this sample is that, although
small in size, it is unique in being well documented in terms
of language characteristics in early childhood, and including
many individuals first seen before the advent of DSM-IV. At
follow-up, we were able to assess ASD symptoms in the
young people themselves and to obtain a retrospective
report of symptoms in childhood from their parents, and
thus demonstrate in individual participants how a given
symptom profile related to changes in diagnostic practices
over time.
Even though rates of autistic behaviours were high in our
sample, especially in those with PLI, our study agrees with
others4,19 in emphasizing the lack of a clear dividing line
between language disorder and autism.
Conclusion
This study provides direct evidence of diagnostic substitution, indicating that many children who were diagnosed with
severe language disorders in the 1980s and 1990s displayed
behaviours that would be regarded as meriting a diagnosis of
ASD according to contemporary criteria. This appears to be a
direct result of changing diagnostic criteria from DSM-III
through to DSM-IIIR and DSM-IV. As noted by Rutter,2 it
would be rash to conclude that an increasing prevalence of
autism is entirely explicable in terms of broadening diagnostic criteria, but the data reported here illustrate how secular
changes in diagnostic concepts and clinical awareness have
led to diagnostic reassignment from language disorder to
autistic disorder. It is likely that similar factors have operated
to lead to a diagnosis of autism in other children who would
hitherto have been regarded as cases of learning disability*
or attention-deficithyperactivity disorder. Our study also
has implications for our evaluation of the research literature
on developmental language disorders. Many studies of children with receptive language disorder that were published
in the last century need to be re-evaluated on the grounds
that they will have included children who would nowadays
be regarded as having ASD.
Accepted for publication 19th December 2007.
Acknowledgements
The authors would like to thank all of the participants who
generously gave up their time to take part in this study. Additional
thanks are due to Courtenay Frazier Norbury for help in tracing
participants. This research was supported by a Programme Grant
from the Wellcome Trust.
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List of abbreviations
ADI-R
ADOS-G
ASD
PLI
SLI

Autism Diagnostic Interview Revised

Autism Diagnostic Observation Schedule Generic
Autistic spectrum disorder
Pragmatic language impairment
Specific language impairment

Appendix I: Vignettes of participants meeting Autism

Diagnostic Interview Revised and Autism Diagnostic
Observation Schedule Generic criteria for autism
PARTICIPANT PLI06

He was late in talking, with little speech before 3 years of age.

Before speech developed, he would point and grunt to get his
meaning across. He would play with a toy dog and toy car, but in
a repetitive fashion. His health visitor noticed he was not talking
much and he was referred to a special preschool group for
children with speech and language problems. His parents
commented that in early school years they thought he would be
able to cope in mainstream education, but his problems became
more apparent as he grew older. Language developed but tended
to be over-formalized, and he would tell people things they
already knew, as well as making socially inappropriate comments
(for example youve got a brown face). He was often
unresponsive to social approaches by unfamiliar people but could
also be inappropriately friendly to strangers. At times he would
not stop talking, but at other times he would be withdrawn. He
would play more readily with younger children and older people
than with his own age group. He had specific interests in TV news
and transport and would talk about them a great deal. He would
get upset if a routine was altered, such as someone arriving late.
Apart from being rather ungainly when walking, he did not have
any motor oddities. His parents were told he did not have

Aspergers syndrome. His ADI-R scores were 14, 14, and 4 for the
domains of social interaction (autism cut-off 10 or more)
communication (autism cutoff 9 or more) and repetitive behaviour
(autism cutoff 3 or more), respectively. In adulthood, his ADOS-G
total score was 12 for communication and social interaction, above
the autism cutoff of 10.
PARTICIPANT PLI07

Parents reported that it was extremely hard to get his attention

when he was a child, describing him as in his own little bubble and
oblivious to his surroundings. In the preschool years he had no
imaginary play, instead preferring to spin the wheels of toy cars and
configure his toys in a line. This individual had a fixation with
electricity pylons and would often ask strangers how much
electricity they had in their house. He tended to get upset at change
in his routine (for example changing bath time) and was very
sensitive to environmental noises (for example he would put his
hands over his ears and scream in a busy restaurant). He saw a
paediatric neurologist at 4 years of age but did not receive any
diagnosis. At 5 years of age he was referred to a speech therapist,
who asked the mother to keep a diary of what he said; she noted that
he did speak in sentences, but only very rarely. His articulation was
clear but he tended to use stereotyped phrases. His mother
described him as a little lost soul in mainstream school, but
language did improve when he attended a special language school
at 6 years of age. His adult total score on the ADOS-G was 12 for
communication and reciprocal social interaction, above the cutoff
for autism.
PARTICIPANT PLI10

This individual was reported by his parents to have had no interest

in what others were doing when he was a child. He would rarely
smile, and when he did it was in an inappropriate context. He had
numerous preoccupations (for example tape recorders, clocks),
would line up his toys and would get very irritated if specific
routines were disrupted (for example preparing for bedtime). He
would play with toys, but in an odd way, re-enacting the days events
with his teddy bears. He would pretend to do activities such as
vacuum-cleaning with his teddy. In middle childhood he would talk
a great deal about a fantasy world. He had an unusual hand
mannerism, where he flicked his fingers in front of his eyes. His ADIR scores were 21, 17, and 7 for social interaction, communication,
and repetitive behaviours, respectively. In adulthood he was not
conversational, though would make comments about his favourite
game, cricket (I think Australias doing well) when with familiar
people. His total ADOS-G score in adulthood was 11 for
communication and social interaction.

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