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Misdiagnosis of High Function Autism Spectrum Disorders in Adults: An Italian Case Series

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Open AccessResearch Article
Autism - Open Access Luciano et al., Autism 2014, 4:2
http://dx.doi.org/10.4172/2165-7890.1000131
Autism Autism Spectrum Disorders ISSN: 2165-7890 AUO, an open access journal
Keywords: Autism; Pervasive development disorder; High function;
Adulthood; Misdiagnosis
Introduction
Autism is a neurodevelopmental disorder characterized by
deciency in three areas: social interaction, social communication
and behavioral exibility. Using DSM-IV [1], patients could be
diagnosed under four separate disorders: autistic disorder, Asperger’s
disorder, childhood disintegrative disorder, or the catch-all diagnosis
of not otherwise specied pervasive developmental disorder, while the
DSM-V unied these disorders under a single umbrella, called Autism
Spectrum Disorders (ASD).
Epidemiological data demonstrate that the prevalence estimate
for ASD has increased over time from 4.4 per 10,000 [2-5] to 62 per
10,000 in global world [6] and can be as high as 100 per 10,000 in
England [7,8]. e main explanation for the increased prevalence of
this disorder is the notion of Autism as a spectrum rather than a core
category condition.
Symptoms and decit of ASD are dierently expressed along the
spectrum: peculiar manifestations of the disease can be seen in the
most severely disabled patients, whereas other manifestations are seen
in patients with a lower degree of disability [9]. e patients with the
lowest expression of the disease, ‘High Function’ ASD and Asperger’s
Syndrome [10], are the most frequently misdiagnosed for example as
schizophrenia [11] or personality disorders [12] because they are more
distant from nuclear cognitive and verbal decits.
Most of our knowledge on ASD derives from clinical and
epidemiological studies in children, only in recent years course of ASD
in adults has become focus of new research. A paper reporting on the
epidemiology of ASD in adults indicates 1% prevalence in the adult
English household population, of who most were, unrecognized [13].
One of the reasons accounting for missed diagnosis may be dierent
clinical features of this disorder in adulthood. Increased prevalence
of ASD and high number of unrecognized cases in adulthood cause
concern among health institutions. In most countries national
guidelines, recommendations and protocols on the correct diagnosis
of ASD have been issued. In Italy the National Institute of Health
has released a set of guidelines for the diagnosis of Autism and a
panel of experts on Autism has issued a set of recommendations
suggesting the autistic patient’s need for life-long care. Despite these
recommendations, in Italy there are only few dedicated centers for
diagnosis and treatment of ASD in adults and the problem seems
not to be adequately held in most AMHS. e aim of this study is to
*Corresponding author: Candida Claudia Luciano, Department of Medical and
Surgical Sciences, v.lePepoli 5, 40100 Bologna, Italy, Tel: +39 051-3143034;
E-mail: klaudialuciano@yahoo.it
Received April 24, 2014; Accepted June 03, 2014; Published June 09, 2014
Citation: Luciano CC, Keller R, Politi P, Aguglia E, Magnano F, et al. (2014)
Misdiagnosis of High Function Autism Spectrum Disorders in Adults: An Italian
Case Series. Autism 4: 131 doi:10.4172/2165-7890.1000131
Copyright: © 2014 Luciano CC, et al. This is an open-access article distributed
under the terms of the Creative Commons Attribution License, which permits
unrestricted use, distribution, and reproduction in any medium, provided the
original author and source are credited.
Misdiagnosis of High Function Autism Spectrum Disorders in Adults: An
Italian Case Series
Candida Claudia Luciano1*, Roberto Keller2, Pierluigi Politi3, Eugenio Aguglia4, Francesca Magnano4, Lorenzo Burti5, Francesca Muraro5,
Angela Aresi2, Stefano Damiani3 and Domenico Berardi1
1Department of Medical and Surgical Sciences (DIMEC), University of Bologna, Bologna, Italy
2Clinic of Pervasive Developmental Disorders in Adulthood ASL To 2, Turin, Italy
3Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy
4Department of Clinical and Molecular Biomedicine “Policlinico-Vittorio Emanuele” U.O.P.I. Psychiatry, University of Catania, Catania, Italy
5Department of Psychiatry, University of Verona, Verona, Italy
Abstract
High Function (HF) Autism Spectrum Disorders (ASD) in adulthood is highly prevalent but insufciently
recognized. In Italy, in particular, awareness of this condition is still insufcient and many psychiatrists have no cases
of HF ASD to mention. Adult patients with HF ASD come to the attention of Mental Health Services complaining of
difculties within their social context and interpersonal relationships.
Objectives: Describe emblematic clinical examples of misdiagnosed HF ASD to understand reasons that
conducted to misdiagnosis.
Procedure: We contact ve specialized Italian Center in diagnosis of ASD. Each center have to describe two
or three emblematic cases of adult patient with diagnosis of ASD validated by ADOS-4 but referred to clinicians with
another diagnosis, discussing about possible reasons of misdiagnosis.
Sample and Results: We have collected 12 case reports (2 from Bologna center, 3 from Torino center, 3
from Pavia center, 2 from Verona center and 2 from Catania center) of adult HF ASD previously misdiagnosed.
These cases shows important similarity across centers and highlight that if are taken into account only problems
or symptoms that conduct patients to ask help, cases can easily suggest other psychiatric or personality disorders.
Diagnosis becomes clear only after considering all the clinical features and a detailed developmental history.
Conclusion: Psychiatrists who have insufcient experience of ASD may overlook some symptoms of the overall
clinical picture and misdiagnose ASD as personality disorders, schizophrenia, phobia or even as a non-psychiatric
condition, so is hopeful for future increased knowledge about HF ASD in adulthood.
Citation: Luciano CC, Keller R, Politi P, Aguglia E, Magnano F, et al. (2014) Misdiagnosis of High Function Autism Spectrum Disorders in Adults: An
Italian Case Series. Autism 4: 131 doi:10.4172/2165-7890.1000131
Page 2 of 8
Autism Autism Spectrum Disorders ISSN: 2165-7890 AUO, an open access journal
describe some examples of misdiagnosed HF ASD and discuss reasons
for delayed recognition.
Methods
Illustrative cases of HF ASD in adults with a history of misdiagnosis
were collected by ve Italian outpatient AMHS. e centers of Turin,
Pavia, Verona and Catania have dedicated services for adult autism,
while in Bologna there is an ongoing project in collaboration with
Children and Adolescent Mental Health Services (CAMHS).
Evaluation test for ASD
Cases previously misdiagnosed were nally labeled as ASD by a
battery of tests:
-Clinical diagnosis: DSM-V criteria for ASD.
-Wechsler Adult Intelligence Scale-Revised (WAIS-R): for
evaluation of patients’ cognitive level [14].
-Autism Spectrum Quotient (AQ): a questionnaire consisting
of y questions, it aims to investigate whether adults of average
intelligence have symptoms of autism or one of the other autism
spectrum conditions [15].
-Empathy Quotient (EQ): a self-report questionnaire for use with
adults of normal intelligence that contains 40 empathy items and 20
ller/control items. On each empathy item a person can score 2, 1, or
0, so the EQ has a maximum score of 80 and a minimum of zero. Most
people with Asperger’s Syndrome or high–functioning Autism score
less than 30 [16].
-Autism Diagnostic Observed Schedule, Module-4 (ADOS-4):
a semi-structured assessment can be used to evaluate almost anyone
suspected of autism and consists of various activities that allow
one to observe social and communication behaviors related to the
developmental disorders. ese activities provide interesting standard
contexts in which interaction can occur. e ADOS includes four
modules. e individual being evaluated is given just one module,
depending on his or her expressive language level and chronological
age. Module 4 is used with uent adolescents and adults [17].
For dierential diagnosis with other axis I or of axis II psychiatric
disorders we used SCID I [18] and SCID II [19].
Results
We described twelve illustrative cases of patients, with normal
intelligence (IQ>70), only recognized as ASD aer correct clinical
evaluation in dedicate centers, as summarized in Table 2. is diagnosis
was conrmed by the assessment instruments described above. Results
of these evaluations are reported in Table 1. As you can observe, all
patients stand the cut-o of ADOS-4, gold standard test for diagnosis
of autism (10 patients) or for autism spectrum conditions (2 patients).
You can also notice that AQ and EQ are negative only in one and three
cases respectively. So, as yet know in other research [15,16,20,21]are
easy and fast tests, not enough for diagnosis, but useful for screening
ASD.
Case report 1 (Bologna)
D. is an 18 year-old boy attending the last year of Technical Institute
secondary school, where he has great diculty both in learning (he’s
failed one year) and in relating to classmates and teachers.
He has been in care at Bologna CAMHS since he was 5 years old
and now, at 18 years old, the Italian health service regulation demands
young patients be referred to the AMHS. e CAMHS diagnosis of
Behavioral Disorder (F 91) in childhood evolved to one of Avoidant
Personality Disorder (F 60.6) in adolescence.
D. appears younger than his age. He looks like a frail child and
his body language communicates vulnerability. e WAIS test showed
a mild global cognitive decit but signicant diculties in logic and
abstract thought are observed upon clinical examination. D. has
great diculty in dialogue and in expressing his wishes, thoughts and
experiences. e tone of voice is low, he has a stereotyped smile, his
spontaneous language is poor, he only answers specic questions and
with an eort, oen aer looking at his mother. D. shows a great lack
of common sense, oen he doesn’t get the message because he only
focuses on the literal meaning of the words.
e problem most perceived by family members and teachers since
childhood has always been diculty in social interaction. Right from
the rst year of schooling he showed serious problems of integration
in group-class: D. avoided school-friends and had panic symptoms
and psychosomatic manifestations when he was due to leave home for
school. He was particularly worried about the child throng at school
entrance time. Even today, D. becomes extremely anxious when
faced with individuals not belonging to the family entourage and has
a tendency to isolation. He manages to attend a few group activities
(playing guitar and playing judo) decided by his parents in order
not let the family down. However, D. perceives these activities as a
duty and has never integrated in the group or formed any signicant
relationships with peers.
D. has a restricted range of interests. His greatest passion is for
railways and he spends most of his free time improving a huge plastic
railway with meticulously manufactured accessories, a task requiring
an inordinate amount of time. His mother reports that D. is extremely
rigorous and meticulous and is very good in separating the rubbish
collection. D. has diculty dealing with any change of environment
or habits, e.g. a family picnic or a new pet coming, both of which he
felt as an undue strain on his mental balance. D. is not conscious of his
problems and he is not aware of his future.
D’s social interaction diculties were appraised as the most
alarming problem by the family and the school and were the reason
why D. was referred to three CAMHS. D.’s good command of grammar
and acceptable cognitive level may have contributed to the initial
misdiagnosis. But, when we conducted a more in-depth examination
of this patient, we noticed some other clinical features like decits in
Case # Intelligence
Quotient
Autism
Quotient
(cut-off >32)
Empathy
Quotient
(cut-off<30)
Autism Diagnostic
Observation Schedule Mod.4
(cut-off autism: 10, cut-off
spectrum: 7)
173 37 25 12
285 35 30 10
3114 39 23 15
4126 24 23 13
597 38 18 11
6138 35 19 11
7137 43 19 10
8117 37 27 17
990 38 32 11
10 107 36 33 10
11 75 35 28 9
12 90 39 29 9
Table 1: Results to tests.
Citation: Luciano CC, Keller R, Politi P, Aguglia E, Magnano F, et al. (2014) Misdiagnosis of High Function Autism Spectrum Disorders in Adults: An
Italian Case Series. Autism 4: 131 doi:10.4172/2165-7890.1000131
Page 3 of 8
Autism Autism Spectrum Disorders ISSN: 2165-7890 AUO, an open access journal
Case # Misdiagnosis Age at diagnosis of
ASD
Symptoms at onset Possible reasons of misdiagnosis
11.Behavioral Disorder
2. Avoidant Personality Disorder
19 years Difculties in social interaction,
especially in group
Focus only on difculty in social interaction without integrate
this symptom with patient impaired communication and narrow
interest, presents since childhood
21.Language Disorder
2. Behavioral and Emotional
Disorder
20 years Difculties in verbal
communication and then in
social interaction (loneliness)
Focus only on a part of clinical picture (decit in social
interaction) without integrate this symptoms with patient
impaired communication and narrow interest
3Social Phobia 19 years Difculties in relating with
others, especially at school
No psychiatric history as to the quality of patient relationship with
other children had been collected in detail. Nobody observed an
unusual way of speaking (logorrhea not related to mood disorder)
and difculty in understanding communication from others,
especially in the non-verbal channel.
4Depression 23 years Life in loneliness Focus only on a part of clinical picture (decit in social
interaction) without evaluates restrictive interest and decit in
non-verbal communication.
5Anxious-depressive symptoms 47 years Anxious symptoms related to
social context
No collect a detail developmental history: difculties of patient
began in childhood relate to a decit in social cognition.
Secondary mental disorder was considered principale
symptoms.
6Anxious Disorder 17 years Vulnerability to stressful life
events and social distress
Secondary mental disorders, as marked traits of apprehension,
occasionally manifesting in free-oating-anxiety or anguish
with persecutory ideation, were misdiagnosed as the primary
disorder but it might be result of decit in social communication
or of her propensity to ritualize and repeat that cause social
conict
7Personality disorder 50 years Difculties in relating with
others, especially at work
No in-depth examination of patient psychosocial history
from childhood until adulthood. Frequent personal
misunderstandings, were interpreted as traits of her
personality or as symptoms of different psychological domains.
Working independence and certain patterns of exclusion were
considered a way to reject relationships whereas represent a
way to unload frustration that derives from difculty in social
interaction and social communication
81.Borderline Personality Disorder
2.Obsessive-
Compulsive Disorder
3.Social Phobia
4.Eating Disorder NOS
23 years Eating disorder Many features of clinical picture were in common with other
mental disorders, better known by staff and more acceptable
to patient’s relatives. It seems that a proper differential
diagnosis was not possible for two main reasons. First, the
hyper-specialization in clinics usually implies poor knowledge
of Asperger’s Disorder and does not permit a balanced
consideration of all the possibilities. Second, ASD high-
functioning are probably more clinically confusing.
9Obsessive-Compulsive Disorder 20 years Repetitive behaviors Focus only on one symptoms (repetitive behavior), without
check neurodevelopment and without consider lack of social
interaction, the delay in speaking and the generally restricted
interest like other features of clinical picture
10 1.Language Disorder
2.Behavioural and Emotional
Disorder
20 years Delay in speeking No integration of symptoms into a single syndrom (social
interaction, separation anxiety, delay in speaking and restricted
interests)
11 1.Language disorder 2.Behavioral
and Emotional Disorder
20 years Incomprehensible speech and
difcults in social interaction
No investigation of the developmental history which shows all
three typical features of ASD: decit in social communication,
decit in social cognition and repetitive and restrictive interests.
12 1.Psychosis NOS 19 years Difculties in emotional and
relational areas
No investigation of whole developmental history and no
integretion of symptoms into a single syndrome, so difculty
in emotional and relational areas and some behavior like
watching the washing machine were interpreted as bizarre and
collocated under psychotic areas.
Table 2: Features of patients related to misdiagnosis and its possible reasons.
social communication and the presence of restricted, repetitive patterns
of behavior, interests and activities. ese features, together with the
decit in social interaction, appointed to the more comprehensive and
correct diagnosis of ASD.
Case report 2 (Bologna)
V. is a 20 year-old young man. He got his school-leaver’s diploma
from Technical Institute (secondary school) and has been looking for
a job.
He has been in care with our AMHS since he was 18. He had
previously been treated at the CAMHS since the age of 4 for Language
Disorder (F 80). Speech therapy led to an improvement in verbal
communication but during adolescence avoidance of social interaction
set in, leading to the diagnosis of Behavioral and Emotional Disorder
(F 92) with which he was referred to adult services.
V. has a WAIS-R [14]-tested mild cognitive defect, he looks
somewhat ‘goofy’ and oen confused or vacuous. Sometime he
Citation: Luciano CC, Keller R, Politi P, Aguglia E, Magnano F, et al. (2014) Misdiagnosis of High Function Autism Spectrum Disorders in Adults: An
Italian Case Series. Autism 4: 131 doi:10.4172/2165-7890.1000131
Page 4 of 8
Autism Autism Spectrum Disorders ISSN: 2165-7890 AUO, an open access journal
appears rapt in his inner world and not in touch, at other times he
keeps murmuring questions before answering them. In the psychiatric
interview he displayed unsuitable closeness and was unable to behave
as a patient. His utterances were also inappropriate to the subject,
talking of his mother’s illness in facetious tones, for instance.
ere is a lack of social interaction. Since childhood, V. has never
had any personal friend or a group to belong to. When younger, he
sometimes used to join his brother’s group but now avoids going
out with them too. V. explicitly says: “I’m not interested in social
relationships, because they are not worthwhile and I feel ne by myself”.
He has never been involved in love aairs. He will say that in childhood
he wished to have a girlfriend, but not today. However, in contrast with
this emotional gap, V. was very moving when he described his rst and
only infatuation with a girl: in a matter of seconds, aer looking at a
girl on the beach for the rst time, he fell in love with her and from
that moment on him felt ‘changed’. His mother reports that V. spends
his days at home walking to and fro talking to himself in a low tone of
voice. e most frequent expressions that he repeats in an obsessive
disturbing manner are: “I’m blessed”, “I’m crazy”, “I’m a loser”. In the
same way he will mutter insults addressed to individuals who have hurt
his sensibility in the past.
V. has no regrets and rationalizes his lack of friendship and
incongruous behavior as inevitable, given his orientation toward rules,
whereas feelings and emotions are vain, damaging and to be avoided.
His future projects are to the result of rationalizations and focus on
buying a car without rear seats, a house in which to live alone, and
nding an easy job such as a dustman, without much responsibility and
with limited social interaction.
In this patient, loneliness has always been the most worrisome
behavioral problem for the family and for the school and this may
have caused child psychiatrists to focus only on a part of the clinical
picture, thus missing the ASD diagnosis. Only recently have V.’s family
understood the importance of impaired communication and narrow
interests.
Case report 3 (Turin)
F. is a 19 year-old lad attending the last year of Technical Institute
(secondary level).
He did not come to the psychiatrist’s notice until last year and
had been treated by the AMHS with psychotherapy for social phobia,
without improving his behavior. Social phobia was diagnosed because
of diculties in relating with others, especially at school, which
started in childhood. Mood disorder and psychotic disorder had been
excluded. F. is not conscious of his diculties and is ego-syntonic in his
thoughts and behavior.
At school he shows diculty in relationship bound up with his
decit in understanding other people’s emotions. At the psychiatric
examination, F. appeared very rigid in verbal expression, using
formal and unusual words. He spoke in a verbose way about the topic
introduced. He clearly stated that he didn’t understand why people go
out at the week-end and why other people feel the need for a partner
in life.
He stays alone during the break at school. He has no friends even
outside school. e only hobby, as he says, and the only reason to leave
his house is going to school.
He needs a rigid organization of space on the table during meals.
When he doesn’t attend school, he stays alone in his room at his
notebook browsing a ction website all the time. He has a very sensitive
sense of smell and can’t stand some foods.
Since his IQ is normal, he was diagnosed as having social phobia,
partly because no psychiatric history as to the quality of his relationship
with other children had been collected in detail before our evaluation.
As distinct from social phobia, we observe an unusual way of speaking
(logorrhea not related to mood disorder) and diculty in understanding
communication from others, especially in the non-verbal channel.
Case report 4 (Turin)
B. is a 23 year-old man. Since completing scientic school at the age
of 19, he has never worked. He plays piano and paints.
Over the last year he was diagnosed by the AMHS as depressed. No
psychotic symptoms have been detected.
He speaks very slowly in a peculiar, stereotyped manner, without
mimicry and without modulating his voice. He looks like an old-style
English lord, very formal. No eye contact is made.
He stays all day at home with his mother. He spends all his time
painting and playing piano alone. He has no girlfriend and no friends,
either. Even though his early neurodevelopment proved normal in his
medical-psychiatric history, he preferred to stay on his own and has
rarely played with other children since childhood.
He likes taking photos but concentrates on a single topic for a
prolonged time. Before taking a photo of a little ship made of paper,
he rst made 15,000 little paper ships, spending several months
concentrating on that topic alone. is is his usual manner of
organizing his life.
As distinct from depressive disorder, one notes that normal
interests are present and he feels pleasure in playing and painting. On
the other hand, he concentrates on a single topic to an unusual degree.
His way of living alone is not related to negative or positive psychotic
symptoms and started in childhood.
Case report 5 (Turin)
M. is a 47 year-old woman. She works as a clerk and has a degree.
She arrived at the AMHS with anxious-depressive symptoms to do
with diculties in her job. Since adolescence she has been diagnosed as
suering from anxiety disorder and been treated with antidepressants
and psychotherapy. She is clearly ego-syntonic in her behavior and
seems to be living in a novel, exhibiting childish behavior.
She says that she has diculty in social communication. She doesn’t
understand why recently her boss punished her for a serious mistake but
she thinks it is not as important as the director claimed. She explained
that she failed to tell her boss about a project and referred directly to the
general manager because she didn’t understand the implicit instruction
behind her boss’s remarks. Another time, she lost an important oce
document on the train and a member of the public found it and
brought the document to her boss; she couldn’t understand why he
was so angry “because in the end the document was found”. She had
the same problem communicating with colleagues in other jobs and
has had to change placements several times on account of her behavior,
but she has no diculty in winning competitive selections, especially
when written, and always nds another job. She doesn’t understand
when it is her turn in a phone call and since childhood she has tended
to be long-winded.
She is not able to work with others. Since adolescence she has
Citation: Luciano CC, Keller R, Politi P, Aguglia E, Magnano F, et al. (2014) Misdiagnosis of High Function Autism Spectrum Disorders in Adults: An
Italian Case Series. Autism 4: 131 doi:10.4172/2165-7890.1000131
Page 5 of 8
Autism Autism Spectrum Disorders ISSN: 2165-7890 AUO, an open access journal
shown serious diculty in making friends at school and outside school.
Since childhood she has been “shy” and unable to understand emotions
expressed by others.
She needs an orderly plan for her life and prefers to wear clothes of
the same color and tactile feel.
e clinical picture can hardly be anxiety disorder alone. e
diculties that began in childhood relate to a decit in social cognition.
In contrast to her IQ, she exhibits some very childish behavior that is
not related to a personality disorder.
Case report 6 (Pavia)
E. was full-term born in normal circumstances, and was bottle-fed.
He is at present an undergraduate of Psychology at a French university,
providing special support for people with autism spectrum disorders.
He is in care with a psychotherapist and has periodic checks at our
clinic in Pavia.
E. was rst diagnosed as suering from Asperger’s syndrome when
he was 17, and was 18 when he rst contacted the Autism Lab four
years ago.
At kindergarten E. was described as an isolated child, with a lack of
interest in play activities.
Of note, E’s speech and thought seem to be unaected by autistic
spectrum disorder, but – upon in-depth examination– one observes
an unusual attention to detail and some other minor oddities. Again,
mild ‘dysprosody’ is sometimes detectable, with a tendency to poorly
modulate the voice tone.
He has presented strange and bizarre behavior at times during his
life. For instance, he might get up in the middle of a meal to remove
cheese crusts or other unpleasant food from other’s dishes. In spite of
the undoubted improvements achieved, even today E. nds it dicult
to understand the motivations underlying others’ emotions, and in
the same way he feels a certain embarrassment in facing up to his own
feelings. Loud noises, especially if sudden, have been an important
issue, as they have triggered panic attacks on many occasions.
His mother reports normal psychic, psychomotor and speech
development. On the other hand, E. has presented some peculiarities
since he was young, such as a vivid interest in the ‘evil’ characters of
lms, and a strong, ambivalent passion for high voltage cables: he has
repeatedly tried to get close to them, despite the intense fear they cause
him.
ese peculiar features were never taken into account by the patient
or his family as a symptom of ASD and had never been evaluated
by psychiatry. Inverse vulnerability to stressful life events and social
distress were perceived as a huge problem without any understanding
of how it might be a result of decit in social communication. Hence,
secondary mental disorders, which in E.’s clinical picture include
some marked traits of apprehension, occasionally manifesting in free-
oating-anxiety but also as anguish with persecutory ideation, were
misdiagnosed as the primary disorder.
In particular, it is not always possible to separate certain “neurotic”
features of E. from family and social conict deriving from his
propensity to ritualize and repeat, which is typical of ASD.
Case report 7 (Pavia)
F. is a woman of y and was the editor of two magazines when she
arrived at the Pavia Autism Lab for consultation.
In childhood she was quiet and shy; she remembers having been
a remarkable student during elementary school, when her teacher
protected her. By contrast, over the following years she experienced
exclusion and bullying by her classmates. She had a single, partly
sentimental/friendly relationship at the age of 19 with a neighbor of hers
of the same age. is story had a tragic ending, because the young man
disappeared while hiking in the mountains. His remains were retrieved
only 9 years later. Aer his disappearance, F. took a trip to India –
the center of interests she shared with the boy – hoping to nd him
there. Back home, F. got various jobs, and meanwhile had a complex
academic career, beginning her studies in Law and then moving rst
to Philosophy and then to a Naturopathy school. She has unusual
interests in nutrition, Hinduism and theosophy. Her rst employments
were complicated by tensions in her working relationships (mobbing
colleagues, incomprehension with sta/superiors). Nowadays she is
editor in chief – and the only author – of two magazines dealing with
nutrition.
During our rst interview, F. acknowledged her diculty in
“reading others’ minds”: she reports constant diculty in relationships
and exchanges with other people. Nevertheless, her speech is rich and
uent.
F. claims that she didn’t suer much from social exclusion during
her youth, because she longed for solitude and had no great interest in
making friends or taking part in recreational group activities. Despite
the experience she has acquired and a remarkable degree of social
success, the patient shows an inability to tune herself with others (both
in expressing her own feelings and in perceiving others’ emotions).
However, this problem didn’t prevent her from meeting a man who
shares some of her characteristics. ey married in secret and live in
two dierent towns, but they meet frequently and enjoy mutual trust.
F. asked for a consultation in her ies and appeared relieved to learn
she has Autism Spectrum Disorder. Correct diagnosis was only possible
aer in-depth examination of her psychosocial history from childhood
until adulthood. Her previous life had been marked by frequent
personal misunderstandings, which were interpreted by psychiatrists
as traits of her personality or as symptoms of dierent psychological
domains. In the past, her working independence and certain patterns
of exclusion were considered a way to reject relationships whereas they
represent a way to unload frustration that derives from her diculty in
social interaction and social communication.
Case report 8 (Pavia)
F. is a 23 year-old young woman. She was born at full term, aer a
normal pregnancy, and breast-fed until the age of 2.
F. was a clever pupil, with an excellent academic record, though
she learned “much more from books than from teachers”. She took
her nal high school examination at the same period as her parents’
separation.
Aer spending her rst university year without taking exams, her
situation was outlined to a distant relative (a psychiatrist), with whom
she had some interviews. Undiagnosed by him, aer some episodes
of binge eating followed by vomiting and self-injurious acts (forearm
lesions), F. was redirected to a Bulimia/Anorexia clinic, with little result:
she performed serious self-harming acts by taking drugs (Emergency
Department access for attempted suicide in 2009). On being referred
to a CAMHS, F. was discharged to an AMHS for further investigation.
Finding hospitalization unbearable, F. self-inicted a deep cut on her
arm, involving the tendon. She was then diagnosed with Borderline
Citation: Luciano CC, Keller R, Politi P, Aguglia E, Magnano F, et al. (2014) Misdiagnosis of High Function Autism Spectrum Disorders in Adults: An
Italian Case Series. Autism 4: 131 doi:10.4172/2165-7890.1000131
Page 6 of 8
Autism Autism Spectrum Disorders ISSN: 2165-7890 AUO, an open access journal
Personality Disorder, Obsessive-Compulsive Disorder, Social Phobia
and Eating Disorder NOS. F. was prescribed antipsychotic and
antidepressant drugs and began psychotherapy. She had no benet
from these prescriptions and she attempted suicide one more time.
When we analyzed F.’s history since childhood, many diculties
in social interaction and social communication became visible: she
started preschool at 3, with problems arising from the rst day, as F.
did not look for company and did not play with schoolmates. From
childhood on, she has been in contact with only one friend. She had
never tolerated physical contact, oen appearing impolite, cold and
detached to other people. Beside this, F. has never understood implied
gestures and innuendos such as winking, and started to decode facial
expressions thanks to her mother’s help and watching cartoons.
Admitted to University classes, her eorts to attend lessons were
undermined because of her preference for avoiding physical contact
(she needed an empty space around her, to be close to the exit, etc...).
F. got in touch with an Asperger’s Association thanks to her
personal research on the Internet; from there she was redirected to the
Autism Lab. She was always marked down as a shy, odd person, but
none of the professionals whom she contacted diagnosed her condition
properly. Many features of her clinical picture were in common with
other mental disorders, better known by sta and more acceptable
to her relatives. It seems that a proper dierential diagnosis was not
possible for two main reasons. First, the hyper-specialization in clinics
usually implies poor knowledge of Asperger’s Disorder and does not
permit a balanced consideration of all the possibilities. Second, high-
functioning people like F. are probably more clinically confusing.
Case report 9 (Catania)
G. is a 22 year-old man. He completed his schooling at a
Professional Institute. He lives at home with his family (mother, father
and a brother) and is not looking for a job. He has been in care at the
AMHS since 2012, and was never assessed for developmental disorder
during childhood and adolescence even though he only started to talk
at the age of 4.
He has diculty in following a conversation, in particular when
abstract thinking is the subject, and sometimes appears to follow his
own thoughts instead of answering the questions of the physician,
preferring to talk about the weather, a topic on which he is really
competent. He manifests a lot of anxiety and tends not to keep eye
contact with the investigator.
Motor behavior observation shows movements to be slow and
clumsy.
From the collection of his psychosocial history, it emerged that he
had diculty in social relationship at school and at home, where he
always seemed really shy and never made good friends. In adolescence,
he had no group of friends and no sentimental relationships.
His parents say that he spends most of the time at home, studying
satellite maps, talking to himself, discussing meteorological problems.
Oen he has to count down from 100 to 0 to calm anxiety and if he
is interrupted he has to start again and manifests anger. He doesn’t
want to eat “red food” and won’t explain why. Mother also says that
sometimes “he talks without thinking about other’s feelings”.
He has a plan for the future “to become a meteorologist, possibly
living in an orbiting station”, but he is unable to outline any strategies
to achieve this goal. G. was evaluated for the rst time when he was
an adult and he was classied as suering from Obsessive Compulsive
Disorder. is diagnosis seems to be a consequence of narrow focusing
on repetitive behavior, but when we checked the neurodevelopment
and considered the lack of social interaction, the delay in speaking and
the generally restricted interest, a clear diagnosis of ASD arose.
Case report 10 (Catania)
D. is a young man of 20, being treated at the CAMHS unit for
Language Disorder and referred at 18 to an AMHS with a diagnosis
of Behavioral and Emotional Disorder. He started to talk at the age
of 5 and went to school for the rst time at the age of 6 because he
didn’t want to leave his parents. He attended school until the age of 18,
completing higher studies. At the moment he has no job and is looking
for one but is not able to sustain a job interview.
During the collection of his medical history he started describing
his life from the rst day he remembers and then day by day with a lot
of particulars and descriptions and it was really dicult to make him
desist. e investigator could only question him when he allowed him
to do so; otherwise he would stall with “the subject is exhausted”. Speech
is not uent and prosody is more or less absent. Mimic movements are
not congruous with the topic or aective status.
He explains that at the moment he is very sad because he feels
dierent from others and is pained at the lack of social relationships;
in particular, he would like to have sexual relationships with girls but
doesn’t understand why they don’t want to have sex with him when he
asks to as plainly as he knows how.
He has a particular interest in watching cartoons and reading
comics, which he relates in a lot of detail.
He doesn’t want to leave home, which would mean changing his
room and habits.
At the end of the interview he le the room ignoring the physician’s
outstretched hand. At the time of diagnosis, attention focused on
social interaction, separation anxiety, delay in speaking and restricted
interests, but there was no integration of symptoms into a single
syndrome. is led to misdiagnosis.
Case report 11 (Verona)
B.A. is now twenty. He has got a professional degree in agriculture,
thus completing his educational curriculum with the help of a support
teacher all the way through. He works as a warehouseman in a local
general hospital. He had his rst contact with a child psychiatrist at the
age of two and received a diagnosis of Language Disorder (ICD10 F80).
When referred to the adult psychiatric service he was given a diagnosis
of Behavioral and Emotional Disorder (F 92).
As a child, B.A. had severely disturbed, practically incomprehensible
speech; he was then treated by a speech therapist between the ages of
four and a half to six, with satisfactory results. However, for years
to come he would maintain peculiar stereotyped, repetitive verbal
sequences as found in animated cartoons, and disturbances in the
domain of semantics and pragmatics. ese last are still present,
together with awkward, emphatic prosody, an evasive attitude when
faced with challenging demands, and verbose speech on a limited set
of topics.
B.A. is visibly uneasy in social situations and extremely slow in
becoming acquainted with anybody. Even today he reports that he feels
dierent from other people in general and that he is content with his
“six-friend group”.
Citation: Luciano CC, Keller R, Politi P, Aguglia E, Magnano F, et al. (2014) Misdiagnosis of High Function Autism Spectrum Disorders in Adults: An
Italian Case Series. Autism 4: 131 doi:10.4172/2165-7890.1000131
Page 7 of 8
Autism Autism Spectrum Disorders ISSN: 2165-7890 AUO, an open access journal
B.A. is fairly independent in moving around, but he has a limited
range of interests and prefers few, repetitive activities. He has cognitive
skills at the bottom of the normal range, with restricted logical-
mathematical intelligence, and a rigid supercial way of thinking that
tends to dri under environmental pressure. He writes in lower-case
block letters, with repetitive dashes. When outside, he sometimes feels
grabbed by women and by people attending work activities. He shows
only partial awareness of his condition and does not seem to have any
plans for the future.
B.A. was initially assessed by a child psychiatrist at an early age
when his speech disturbance was the foremost symptom; later on,
he was not seen by a child psychiatrist on a regular basis and the
diagnosis stuck. e diagnosis he received in adulthood is emblematic,
because diculties in social situations, which appear in adolescence,
oen look like disturbed emotions and behavior. ese symptoms are
more easily reported to psychiatrists and diagnosed as such without a
thorough investigation of the developmental history which shows all
three typical features of ASD: decit in social communication, decit in
social cognition and repetitive and restrictive interests.
Case report 12 (Verona)
M.G. is 19 years old attending the nal year of secondary school
with a focus on modern languages, in which he has good results. He
has been examined by child psychiatrists since he was three with an
initial diagnosis of Psychosis NOS. At the time of his referral to the
adult psychiatric service he received a diagnosis of PDD NOS with
Psychotic Traits.
M.G. is well built, a little clumsy, with relatively poor facial mimicry
and a tendency to avoid visual, let alone physical, contact.
He shows good cognitive performance and meets environmental
demands fairly well, especially when prompted, but at the cost of some
emotional arousal betrayed by either signs of free anxiety or obsessive
rituals. He tries hard to keep events under control because he nds it
hard to tolerate unexpected changes.
M.G.s verbal communication is good, but sparingly used, unless
prompted. His vocabulary is adequate, but lled with clichés. Social
interaction has been poor since childhood: parents recall he was a very
quiet child, lacking initiative, with a tendency to isolate himself. ey
started to worry when they found him standing still in front of the
washing machine, staring at, and fascinated by, the revolving drum.
To this day, he continues to experience major diculties in
his emotional and relational areas: he is unable to express his needs
successfully so that he is exposed to frustration and tends to blame
others for his disappointment. He emotionally distances himself from
others so that he has a very limited number of strictly selected contacts.
At times he experiences aggressive urges.
He has attended school regularly and also obtained good grades.
He is especially fond of reading English newspapers, favoring classied
ads and commercials, rather than articles.
He was for years a boy scout; now he attends gym under the
supervision of a personal trainer, with good results. In spite of the fact
he is nishing secondary school, he does not express any plans for the
future; yet, if questioned, he becomes vague and looks distressed. He
seems unaware of his condition.
e reason for the original misdiagnosis may be attributed to
persistent misinformation about ASD in the medical profession
until recent times. Good cognitive performance and good verbal
communication tend to put psychiatry o a correct diagnosis. Diculty
in emotional and relational areas and some behavior like watching
the washing machine were interpreted as bizarre and collocated
under psychotic areas. However, when we considered the whole
developmental history of patient, we came to see all the problematic
areas as a single syndrome. A proper understanding of ASD led us to
a new reading of the patient’s problems and formulation of a correct
diagnosis.
Discussion
e aim of this paper is educational. Some misdiagnosed cases of
ASD have been described in order to highlight the possible reasons
causing child and adult psychiatrists not to recognize cases of HF ASD
and to classify them under other psychiatric diagnoses. Patients were
nally correctly recognized in dedicated centers and the diagnosis was
conrmed using psychometric instruments catering for ASD.
In the Italian Mental Health Service knowledge about HF ASD
in adulthood is still far from widespread and the standard of care for
this disorder seems to be poorer than for schizophrenia or other major
mental disorders. Most Italian mental health service professionals have
no cases of HF ASD in adulthood to mention.
e dearth of cases in Adult Mental Health Services is possibly due
to the negative illness behavior that characterizes ASD: generally these
patients do not seek help, have no awareness of illness, tend to isolation
and consider treatment as intolerable intrusion. Another possible
explanation is misdiagnosis of HF ASD in adults. ese patients
are oen considered as subjects with social problems or are given a
psychiatric diagnosis of the kind more routinely used by psychiatrists.
Again, the literature conrms that HF ASD may not be recognized
or may be misdiagnosed as depression, personality disorder, or
psychotic illness [11,22,23]. Correct identication of patients with
classic nuclear autism is fairly easy because the features of the disorder
are well-dened, severe and self-evident. e clinical picture of HF ASD
is quite dierent in patients with indenite/ambiguous features of the
disorder which can only be recognized as Autism if one assumes such
a disease to be placed within a spectrum. Recent studies demonstrate
that HF ASD represent the extreme end of a normal distribution of
autistic-like traits [24], in a continuum from normal to pathological,
with dierent levels of gravity.
e cases described share important common clinical features:
all are characterized by normal verbal communication and uent
grammar and all were brought to the attention of a physician because of
relational problems, perceived not by the patient but by his/her family
members or school teachers. Behaviors concerning interpersonal
communication diculties and patterns of repetitive behavior are less
commonly perceived by the patient and his environment as a good
reason to visit a doctor.
e specialist evaluating the patients, in turn, may underestimate
the problem due to limited knowledge of HF ASD and reluctance to
formulate a diagnosis of ASD, for fear of the ‘stigma’ this diagnosis
may involve.
In these subjects, the diagnosis becomes clear only aer considering
all the clinical features and a detailed developmental history. If only
single clusters of symptoms are taken into account, cases can easily
suggest other psychiatric or personality disorders which are more
familiar to the psychiatrist. us, aberration in language and apparently
Citation: Luciano CC, Keller R, Politi P, Aguglia E, Magnano F, et al. (2014) Misdiagnosis of High Function Autism Spectrum Disorders in Adults: An
Italian Case Series. Autism 4: 131 doi:10.4172/2165-7890.1000131
Page 8 of 8
Autism Autism Spectrum Disorders ISSN: 2165-7890 AUO, an open access journal
‘bizarre’ behavior can induce a misdiagnosis of schizophrenia [11,25-
27]; a pattern of repetitive thoughts and behavior can lead to a
misdiagnosis of obsessive disorder [28-30]; social withdrawal and
diculty in relationship with others can induce a misdiagnosis of social
phobia [31] or schizoid/schizotypal personality disorder [32,33]; poor
emotional control can cause a misdiagnosis of borderline personality
disorder [34], and so on.
Conclusion
e history of patients described above, shows how dicult may
be to correctly identify HF ASD in adolescents and adults and evidence
that individuals of normal intelligence with ASD tend to be diagnosed
with ASD late in childhood or sometimes in adulthood, despite a
persistent symptomatology [35].
In our case series patients received a misdiagnosis both by CAMHS
and by AMHS until they came to the attention of dedicated centers
for ASD. But only a correct and prompt recognition of these disorders
will allow appropriate support for these patients and their families [17].
e eect of inadequate identication and assessment of patients with
ASD leads to inadequate or even damaging care [22]. For these reasons,
family associations and health service authorities are greatly concerned
about this issue, as demonstrated by recent recommendations for
recognition, diagnosis and management of adults with autism
published by the National Institute for Health and Clinical Excellence
(http://guidance.nice.org.uk/CG142).
e hope for the future is that proper training in the identication
and assessment of autism should gure more prominently in the
undergraduate and postgraduate education of health and social care
professionals [22].
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Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by deficits in communication and relational skills, associated with repetitive verbal and motor behaviors, restricted patterns of interest, need for a predictable and stable environment, and hypo- or hypersensitivity to sensory inputs. Due to the challenging diagnosis and the paucity of specific interventions, persons with autism (PWA) reaching the adult age often display a severe functional regression. In this scenario, the Regional Center for Autism in Adulthood in Turin seeks to develop a personalized rehabilitation and enablement program for PWA who received a diagnosis of autism in childhood/adolescence or for individuals with suspected adulthood ASD. This program is based on a Multistep Network Model involving PWA, family members, social workers, teachers, and clinicians. Our initial analysis of 500 PWA shows that delayed autism diagnosis and a lack of specific interventions at a young age are largely responsible for the creation of a “lost generation” of adults with ASD, now in dire need of effective psychosocial interventions. As PWA often present with psychopathological co-occurrences or challenging behaviors associated with lack of adequate communication and relational skills, interventions for such individuals should be mainly aimed to improve their self-reliance and social attitude. In particular, preparing PWA for employment, whenever possible, should be regarded as an essential part of the intervention program given the social value of work. Overall, our findings indicate that the development of public centers specialized in assisting and treating PWA can improve the accuracy of ASD diagnosis in adulthood and foster specific habilitative interventions aimed to improve the quality of life of both PWA and their families.
... 891). Some autistic persons may be misdiagnosed and given a psychiatric diagnosis (Luciano et al. 2014). Volkmar and Pauls (2003) have estimated that approximately 15% of individuals on the spectrum may obtain self-sufficiency in adulthood, with an additional 15-20% able to accomplish some level of self-sufficiency with some support. ...
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Over the past decade, there has been a growing interest in adults on the autistic spectrum, and more recently, the challenges related to aging in this population. A two-day Think Tank meeting, focused on aging in autism, was convened amongst international leaders in the field of autism research and practice. This meeting included a series of presentations addressing the current status of aging research, followed by discussions regarding priorities going forward. Attendees shared their thoughts and concerns regarding community services, government policies, societal perspectives and physical and mental health. The goal of these discussions was to consider systematic approaches aimed at providing meaningful supports that can ensure a quality of life for seniors on the autism spectrum.
... Consistently, ASD diagnoses were confirmed in all PWA if made previously. Co-occurring mental health conditions are more prevalent in ASD than in the general population and a careful assessment of mental health is an essential component of care for all PWA and should be integrated into clinical practice with specific assessment [34][35][36][37][38]. Given that the co-occurrence of personality disorders is typically related to young adulthood but not childhood, the assessment should also explore personality in ASD. ...
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This book provides a comprehensive overview of the diagnosis, management and treatment of the psychiatric comorbidities encountered in adolescents and adults with Autism Spectrum Disorder (ASD). After discussing key issues in diagnosing ASD in adolescents and adults, the opening part of the book examines the genetics, neuroimaging and neuropsychology of ASD. Several chapters are then devoted to all of the psychiatric comorbidities such as psychosis, obsessive-compulsive disorder, depression, bipolar disorder, anxiety disorders, eating disorders etc. For each disorder, the clinical symptoms, biological basis, diagnostic criteria and treatment options are described in detail. In addition, a special chapter is devoted to people with intellectual disabilities. Thanks to its clear approach,Psychopathology in Adolescents and Adults with Autism Spectrum Disorders will be an invaluable resource for psychiatrists, psychologists and neuropsychiatrists, as well as allied mental health professionals, caring for these patients.
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Girls and women may have been underdiagnosed now and in the past, skewing the ratio of boys to girls considerably. This chapter discusses what we know about females with ASD.
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Individuals of normal intelligence with autism spectrum disorders (ASD) tend to be diagnosed with ASD late in childhood or sometimes in adulthood, despite a persistent symptomatology. When such patients visit psychiatric clinics for co-occurring psychiatric symptoms, the diagnostic procedure can be challenging due to a lack of accurate developmental information and a mixed clinical presentation. The same is true for those with subthreshold autistic symptoms. Although individuals with subthreshold ASD also have social adjustment difficulties of a similar degree to those with ASD, the relative clinical significance of this population is unclear. Here, data from a large national population sample of schoolchildren were examined to determine the psychiatric needs of children with threshold and subthreshold autistic symptoms. First, autistic symptoms or traits assessed by the Social Responsiveness Scale (SRS), a quantitative behavioral measure, showed a continuous distribution in the general child population (n = 22,529), indicating no evidence of a natural gap that could differentiate children diagnosed with ASD from subthreshold or unaffected children. Second, data from 25,075 children demonstrated that having threshold autistic symptoms predicted a high psychiatric risk, as indicated by higher scores on the Strengths and Difficulties Questionnaire (SDQ; odds ratio [OR] 200.52, 95% confidence interval [CI]: 152.12-264.33), and that having subthreshold autistic symptoms indicated the same (OR 12.78, 95% CI: 11.52-14.18). Having threshold autistic symptoms predicted emotional problems (OR 20.19, 95% CI: 17.00-24.00), as did having subthreshold autistic symptoms (OR 5.90, 95% CI: 5.29-6.58). Third, among 2,250 children at a high psychiatric risk, most had threshold or subthreshold autistic symptoms (21 and 44%, respectively). These findings have important implications for the comprehensive psychiatric and developmental evaluation and treatment of this patient population, whose diagnosis and treatment are often delayed, and a further in-depth study is warranted.
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The Structured Clinical Interview for DSM-III-R [Diagnostic and Statistical Manual, Revised] (SCID) is a semistructured interview for making the major Axis I and Axis II diagnoses. It is administered by a clinician or trained mental health professional who is familiar with the DSM-III-R classification and diagnostic criteria (1). The subjects may be either psychiatric or general medical patients or individuals who do not identify themselves as patients, such as subjects in a community survey of mental illness or family members of psychiatric patients. The language and diagnostic coverage make the SCID most appropriate for use with adults (age 18 or over), but with slight modification, it may be used with adolescents. (PsycINFO Database Record (c) 2012 APA, all rights reserved)
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The clinical distinction between autism spectrum disorders (ASD), also called pervasive developmental disorders (PDD), and schizophrenia is often difficult to make. Here we describe a case of an adult patient presenting with a diagnosis of schizophrenia based on a history of functional deterioration and presumed persecutory delusions. A psychiatric and psychological assessment conducted from a developmental perspective, in association with direct observation and neuropsychological evaluation for intellectual disabilities and autism, led to a diagnosis of PDD not otherwise specified, with revision of the initial diagnosis of schizophrenia.