CME Article

Autism Spectrum Disorder: A

Concept in Evolution
Ahsan Nazeer, MD; Nehdia Hashemi, MD; Nazish Imran, FRCPsych; and
Muhammad Waqar Azeem, MD

F
ABSTRACT ew medical disorders in recent result of parental surveys in which they
Autism is a fascinating topic that years have caused so much con- were asked whether a child in the family
has attracted the interest of re- troversy and passion, and trig- has been diagnosed with autism. There
searchers and the lay public alike. gered such an intense debate among are obvious limitations in this method
The history of autism is filled with academicians, scientists, and the lay including not being able to correct for
accomplishments of people who public as autism. Autism has attracted errors in how and by whom the diagno-
were astute observers of childhood the attention of celebrities, journalists, sis is made.
psychopathology. Autism spectrum bloggers, and parents. Hundreds of fo- The reported increase in the preva-
disorder affects a diverse group of rums have been created about autism for lence leads to the debate about how much
children who share certain common- the hotly contested debate on the preva- of this increase is the result of broadened
alities. There are ongoing attempts lence, causation, and treatments. Most diagnostic criteria and increased aware-
to understand its etiology and to re- of this attention is because of the star- ness and how much of this can be attrib-
fine diagnostic criteria for improved tling rise in the number of children who uted to the environmental and genetic
and timely recognition. In recent were diagnosed with autism spectrum factors.3,4 Numerous studies have looked
years, rapidly evolving research has disorder (ASD) during the last decade. at the role of different etiological fac-
highlighted the limits of our under- Prevalence studies have shown that the tors and the changes in prevalence rates;
standing of a disorder that at one diagnosis of ASD has increased from 3 however, the results are constrained by
time was considered rare, but now to 4 children per 10,000 in the 1940s to methodological limitations.5,6 Never-
presents itself in 1 in every 59 chil- 1 in 59 in 2018.1 This estimate reflects a theless, popular parental views that vac-
dren in the United States. This article 15% increase in the prevalence in ASD cines and thimerosal are the cause of
particularly focuses on the history from 2016 when the reported rates were autism have been discredited.7,8
of autism as well as the changing 1 in 68.2 It is important to note, however, Throughout history, we have struggled
criteria in the Diagnostic and Sta- that these numbers from both 2016 and to understand the concepts of disease
tistical Manual of Mental Disorders. 2018 are not the result of direct observa- and disability along with the boundaries
[Psychiatr Ann. 2019;49(3):103-108.] tion of the children and instead are the between “normality” and “abnormality.”
Again and again humans have turned to
their internal prejudices to explain devi-
ant behaviors with mysticism and reli-
Ahsan Nazeer, MD, is the Division Chief, Child and Adolescent Psychiatry, Sidra gion. As late as the 19th century, people
Medicine. Nehdia Hashemi, MD, is a Lecturer in Clinical Medicine, Qatar Univer- were called “idiots,” not by prejudice or
sity School of Medicine. Nazish Imran, FRCPsych, is an Associate Professor, Child malice, but because this was a main-
& Family Psychiatry Department, King Edward Medical University. Muhammad stream concept, present in the medical
Waqar Azeem, MD, is the Chair, Department of Psychiatry, Sidra Medicine. literature, describing people that we used
Address correspondence to Ahsan Nazeer, MD, Sidra Medicine, PO Box 26999, to label as “mentally retarded.” Today by
Al Luqta Street, Education City North Campus, 2nd Mezzanine, OPC, Office C2M exercising much intellectual sensitivity
224, Qatar Foundation, Doha, Qatar; email: anazeer@sidra.org. we call them people who have “intellec-
Disclosures: The authors have no relevant financial relationships to disclose. tual disability.” Although autism was not
doi:10.3928/00485713-20190207-01 formally recognized until the mid-20th

PSYCHIATRIC ANNALS • Vol. 49, No. 3, 2019 103

CME Article
century when Donald Triplett became
the first person to receive this diagnosis,
descriptions of these people were found
in State surveys commissioned to inves-
tigate “idiocy.”9 One such survey, com-
missioned by the Boston State legisla-
ture in 1846, and conducted by a group
of three men, found “a great many cases”
of people who were intellectually inca-
pacitated but, in some cases, displayed
“superior cognition.” As the diagnosis of
autism did not exist at that time, those
people could well have been diagnosed
as having autism by using the criteria
that we use today.10 One of those men
who led the survey was Samuel Howe,
a distinguished graduate of Harvard
Medical School and the founding direc-
tor of the Perkins School for the Blind.
He opened the school in 1832 with the
resounding idea that blind people (“idi-
ots” by definition at that time) can and
should be educated. He promoted the
idea to the Massachusetts State legisla-
ture and led the survey with the sole aim
“to ascertain their number, and whether
anything can be done for their relief.” A
few years later, the Perkins School en-
rolled Helen Keller, who became one of
their most celebrated students.
PAUL EUGEN BLEULER AND LEO
KANNER
Autism is a word based on Greek “au-
tos” or “self ” to describe “self-absorption”
or “withdrawal from reality” and is used
by Eugen Bleuler as one of the pathog-
nomonic features of schizophrenia. He
introduced this term in 1911 to describe
the “most severe schizophrenics who
live in the world of their own.” The use
of the word “autism” in schizophrenia
continued to be prevalent throughout
the 1920s and 1930s to describe cer-
tain subcategories of schizophrenia to
discuss the “autistic thinking” of people
who did not display any positive symp-
toms, including delusions or hallucina-
tions. However, because of the lack of
an agreed upon definition, “autism” as
104 Copyright © SLACK Incorporated
a term has been deleted from the major
diagnostic systems as a component of
schizophrenia.11,12
In 1943, Leo Kanner, an Austrian-
American psychiatrist recounted 11 case
studies in his seminal paper, “Autistic
Disturbances of Affective Contact.”13
He described these children as being
born without the ability to make social
relationships and used the term “autism,”
which was previously used by Bleuler, to
describe this psychopathology. Some of
the phenotypic elements that he identi-
fied included profound inability to de-
velop relationships, obsessive desire for
sameness, fascination with inanimate
objects, aloofness, lack of imagination,
and language that did not serve the pur-
pose of adequate communication with
others.14 Since no one before Kanner
had published a series of such cases, no
information existed about the prevalence
of autism before his time. Kanner was
aware of the previous use of the word
“autism” and its association with schizo-
phrenia and noted that “this is not with-
drawal in the accepted sense of this word
and a specific kind of contact with the
external world is a cardinal feature of the
illness. Nevertheless, in full recognition
of all of this, I was unable to find a con-
cise expression that would be equally or
more suitably applicable.” In later years,
Kanner used the term “early infantile
autism” to describe the same set of char-
acteristics.15,16 However, the use of the
word “autism,” which was initially used
to describe adult schizophrenia, caused
significant confusion in the way autism
and psychosis were conceptualized over
the next 30 years.
HANS ASPERGER AND LORNA WING
At about the same time, Hans
Asperger, an Austrian pediatrician, de-
scribed a similar set of symptoms in the
children from his clinic that he called
“little professors.” Interestingly, he de-
scribed a form of autism that was dif-
ferent from what was noted by Kanner.
Although Asperger’s children shared
some of the similar symptoms, including
communication difficulties, repetitive
behaviors, inability to make friends, and
unusual sensory responses, their symp-
toms did not include cognitive disabili-
ties or symptoms of schizophrenia. He
also reported that the syndrome is not
particularly rare, as he had seen more
than 200 children with a similar set of
criteria in his clinic. He named this con-
dition “autistic psychopathy.”17
Although Kanner’s work was known
internationally, Asperger’s accounts of
“autistic psychopathy” did not get the
attention of scholars outside of German
literature, until Lorna Wing, an English
psychiatrist described her work in the
seminal article, “Asperger’s Syndrome:
A Clinical Account.”18 Because of the
concern that autistic psychopathy would
equate to sociopathic behavior, she ad-
vocated a “neutral” term “Asperger’s
syndrome” over “autistic psychopathy.”
Wing is also widely credited with con-
sidering autism as a spectrum disorder,
instead of a single entity.
Even though there were individual
differences in the initial accounts by
Kanner and Asperger, there were also
significant similarities, as noted in
Table 1.19
BRUNO BETTELHEIM AND
BERNARD RIMLAND
At the time of Sigmund Freud’s death
in 1939, psychoanalysis was the domi-
nant method of understanding and
treating people with psychological dis-
orders. Freud’s work was based on the
concept of unconscious mind and emo-
tional disturbances resulting from early
childhood experiences. He conceptual-
ized these disturbances/imbalances as
the root of the development of psycho-
pathology. During the mid-20th centu-
ry, psychoanalysis remained the predom-
inant model to understand autism as
well, and by doing so, the emphasis was
placed on the mother’s role in fostering
 CME Article

ego development. These theories cre-

Table 1.
ated a sense that the mother’s continued
guidance is important for the normal Comparison of Leo Kanner’s and Hans Asperger’s Accounts
development of a healthy child. Devel- on Autism
opmental disorder like autism were thus
attributed, directly or indirectly, to ma- Characteristic Leo Kanner Hans Asperger
ternal negligence or transgression during
the early childhood period. In the post- Sex Males > females Symptoms do not occur in prepu-
bertal girls
World War (WW)-II period, psycho-
analytic accounts gradually gave way to
Social impairment Egocentricity and lack of interest Similar to Kanner
object-relations accounts; however, until
in the feelings of others
the late 1970s, mother-blaming contin-
ued to be the main descriptor of many
Speech and language Pronoun reversal, repetitive ques- Long-winded pedantic speech;
forms of child psychopathology.20,21 tioning, tendency to invent words developed speech before school;
Although, Bruno Bettelheim is usu- large vocabularies and some "talk-
ally considered responsible for the intro- ing like grown-ups"; unusual grasp
of highly technical language
duction of the “refrigerator mother” the-
ory, this idea that the mother’s behavior
Nonverbal Impaired, poor eye contact, and Similar to Kanner; poverty of
leads to childhood psychopathology pre- communication other aspects of nonverbal expressive gestures; lack of
dates his work. The concept of “schizo- communication flexibility in imaginative play
phrenogenic mother” by Fromm-Reich-
mann and D.W. Winnicott’s theories Repetitive behaviors Difficulty in transitions, stereotypic Similar to Kanner
of object relation that emphasized the play, and stereotypic body
movements
mother’s role in the success and failure of
achieving stable egos may have given an
initial impute to mother blaming. Bet- Sensory sensitivities Odd responses to sensory stimuli Similar to Kanner

telheim was a professor of psychology

and child-development specialist at the Adapted from Wing.19

University of Chicago. From the 1940s

to 1970s, he also served as director of the
Sonia Shankman Orthogenic School at
the University, which was a residential
treatment facility for children with be-
havioral disorders. Through his work at
the Orthogenic School and publication
of the book The Empty Fortress,22 Bet-
telheim became an influential figure
in promoting the “refrigerator mother”
theory. Building upon that work, he
expanded on the idea that autism is an
emotional disorder that is caused by the
psychological harm brought upon some
children by their own mothers.22,23 Sub-
stantiated by his own 10-month experi-
ence at Dachau concentration camp in
WWII, his theories compared the lives
of autistic children to the experience of
prisoners in Nazi concentration camps.
Mainly due to his charisma, and a plain-
spoken approach, his theories were
widely accepted by the general public
during the 1950s and 1960s.24
Bernard Rimland, a psychologist,
founded the Autism Society of Amer-
ica in 1965 and the Autism Research
Institute in 1967. He was critical of
Bettelheim’s theories and stressed that
autism had a neurologic basis, thus em-
phasizing an organic basis of the disor-
der. He published a book, Infantile Au-
tism: The Syndrome and Its Implications
for a Neural Theory of Behavior, in 1964
with a foreword by Kanner who by that
time had changed his views toward a
neurologic basis of autism.25 Rimland
was also concerned about the increase
in the prevalence of autism and hy-
pothesized that vaccinations, especially
thimerosal, might be the cause of this
increase. His status in the public’s per-
ception has lent credibility in the eyes
of many that vaccines indeed might be
the cause of this condition, an assertion
that is still being hotly debated by the
public and scientists alike.26
AUTISM ACROSS DIAGNOSTIC AND
STATISTICAL MANUALS
In the Diagnostic and Statistical
Manual of Mental Disorders (DSM)-I
(1952) and DSM-II (1968), autistic-
like symptoms were labeled under
“childhood schizophrenia.”27,28 Rutter’s
studies played an important role in the
validation of the syndrome and iden-
tifying the prognostic significance of
early speech and language development
and intelligence.29 Kolvin contributed
much by his comparative studies distin-
guishing early childhood schizophre-

PSYCHIATRIC ANNALS • Vol. 49, No. 3, 2019 105

CME Article
nia and autism by considering family
history, the trajectory of the diseases,
phenomenology, and associated symp-
toms.30 By 1979, the idea that autism
is an early form of “childhood schizo-
phrenia” was abandoned.31
Kanner had described social difficul-
ties and “insistence on sameness” as the
central features of autism.32 However,
with rapidly evolving research during
the 1970s, it became clear that speech
and language problems are also a ma-
jor source of disability in children with
autism.
By the time autism was included in
DSM-III in 1980,33 there was a con-
sensus that social deficits, resistance to
change, speech and language problems,
and onset during early years charac-
terized autism. Autism was included
under the broader category of Perva-
sive Developmental Disorder (PDD).
DSM-III saw most of the specific symp-
toms of autism being captured with the
introduction of “infantile autism.” Both
infantile autism and childhood-onset
PDD could also be diagnosed as “fully
present,” or in a “residual state” where
signs of odd communication and social
awkwardness persist but current clini-
cal presentation no longer meets full
criteria. DSM-III also allowed for the
diagnosis of atypical PDD for the cases
in which distortions of social and lan-
guage development cannot be classified
as either infantile autism or childhood-
onset PDD.33
The separation of core symptoms of
autism into three domains of impair-
ment—reciprocal social interaction,
communication, and restricted or re-
petitive behaviors—were formalized
in DSM-III-R34 and a more polythet-
ic definition of autism started to take
shape. The diagnostic subgroups were
reduced to autistic disorder and PDD
NOS (not otherwise specified).
Around the same time DSM-III-R
was introduced, significant changes oc-
curred in the educational landscape in
106 Copyright © SLACK Incorporated
the US. Before the 1960s children with
disabilities either were excluded from
the public education system or catego-
rized under “mental retardation” and
“learning disabled.” During the first
half of the 1960s, a presidential panel
was convened, calling for the education
of all disabled children. The Elemen-
tary and Secondary Education Act
was created in 196535 that allowed for
the accessibility of free education for
children with disabilities. In 1975, the
US Congress approved the Public Law
94-142 Education of All Handicapped
Children Act,36 mandating financial
support for all children with develop-
mental disabilities to receive education.
This law was reauthorized in the 1990s
as the Individuals with Disabilities
Education Act;37 these laws guaranteed
people with disabilities free and ap-
propriate public education in the least
restrictive environment. Autism was
added as an eligibility category in 1997,
ensuring adequate and directed services
for children in need.
The next significant change occurred
in 1994, when three disorders—Rett’s
disorder, childhood disintegrative dis-
order, and Asperger’s disorder—were
included in DSM-IV.38 Pervasive de-
velopmental disorders in this edition of
DSM-IV were the results of extensive
literature review and large multisite
field trials to improve the sensitivity
and specificity of diagnosis across dif-
ferent IQ.39 Another major achieve-
ment was the alignment of diagnosis
among DSM-IV and the International
Classification of Mental and Behavioral
Disorders (ICD-10).40 This led to the
development of internationally recog-
nized research and diagnostic instru-
ments including the Autism Diagnostic
Observation Scale, the Autism Diag-
nostic Interview, and the Childhood
Autism Rating Scale.
DSM-5,41 which published in 2013,
took a more restrictive approach, and
numerous changes in the criteria were
made. First, a dimensional approach to
the diagnosis was chosen over the cat-
egorical approach. Second, the name of
the class of disorders was changed from
PDD to ASD. Third, multiple disor-
ders in DSM-IV under PDD were re-
moved in favor of a single term “autism
spectrum.” A controversial move was
to remove the diagnosis of Asperger’s
disorder. Fourth, a new disorder, social
communication disorder, was added, al-
though its clinical significance and util-
ity in education service eligibility re-
mains unclear. Fifth, after reviewing the
research data, a decision was made to
collapse the social and communication
symptom clusters into one category and
add symptoms of sensory sensitives. In
addition, diagnosis of attention-deficit/
hyperactivity disorder can be made with
ASD in DSM-5, which was not allowed
in DSM-IV. Although ASD is now a
single spectrum, DSM allows for diag-
nostic specifiers that include the sever-
ity of symptoms, clinical course, pattern
of onset, etiological factors, cognitive
abilities, and comorbid conditions.42
CONCLUSION
DSM-5 presents a narrower con-
struct of autism than its predecessor;
hence, raising the possibility that some
people with higher IQ as well as those
with a previous diagnosis of PDD NOS
will be excluded from ASD under the
new criteria. Researchers have also as-
sessed the agreement between autism
criteria in DSM-IV with DSM-5 and
have noted that ASD criteria in DSM-5
are more specific but less sensitive than
those in DSM-IV. Removal of subcat-
egories including Asperger’s disorder
in DSM-5 has also remained contro-
versial. DSM-5 is also not aligned with
ICD-11,43 which potentially can affect
research and international collabora-
tions. Additionally, there are limitations
in its clinical utility because of its fo-
cus on standardized instruments, which
will improve the reliability of DSM di-

agnostic assignment when used by re-
searchers or those with specific training,
but most community clinicians will not
have the opportunity to undergo exten-
sive training.44 With prospective stud-
ies, some of these issues will be clarified,
and we will see more revisions in future
editions.
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