Intended for healthcare professionals

Clinical Review

Diagnosis of autism

BMJ 2003; 327 doi: https://doi.org/10.1136/bmj.327.7413.488 (Published 28 August 2003) Cite this as: BMJ 2003;327:488

Handwritten introspections by a non verbal adolescent with autism

Introduction

The diagnosis of autism may be relatively straightforward as far
autistic symptoms are concerned, while the clinician may be in difficulty
when trying to ascertain the cognitive level of the affected individual.
This is particularly true when assessing non-verbal individuals. As
reviewed by Rapin and Dunn [1], language deficits in autism span from mild
difficulties in lexicon and prosody to verbal agnosia and a complete
absence of verbal productions. In this article we describe the atypical
case of an adolescent with autism who shows a complete absence of spoken
language and a rich and articulate inner language.

Case report.

D. V. was born in 1989, by caesarian section delivery for failure to
progress, which followed a physiological full-term pregnancy. He was in
good health after birth and looked very much like an average baby during
the first twelve months of life. His mother started noticing something
wrong in his behaviour when he was 24 months old: he would not gaze at her
eyes as before, he appeared detached from his environment, and showed a
sad expression. His language then regressed, from an ability to produce a
few contextually meaningful words to a total absence of spoken language.
At the age of 3, he was clearly disabled in his interactions with peers,
although he seemed to long for their proximity. He very frequently
indulged in stereotyped behaviours, like rocking, spinning himself and
various objects, swallowing in a repeated and purposeless way and laughing
or crying without an apparent reason. D. V.’s behavioural picture
satisfied DSM III-R’s [2] criteria for autism.

As prescribed by the italian law, D. V. was mainstreamed throughout
his school years, and since the age of 4 he had been assigned a special
teacher (F. S.) for most of his school hours. During the years of primary
school he was assigned another special teacher for the school hours, while
he was assisted at home by his own relatives and by F. S. for 18 hours a
week. F. S. very soon started a program of parent-training, and she also
engaged D. V. in outdoor activities aimed at improving his ability to
relate to other persons.
D. V. was clumsy and very delayed in his ability to draw, but he promptly
directed his gaze toward a detail in the environment under a verbal
request by his home teacher. During the school years he frequently
approached his peers, but he could not play interactively with them.
We felt unable to formally assess his cognitive level, but we were almost
convinced that he had mental retardation.

D. V. needed strong prompts by his home teacher when he started to
write isolated words at the age of 8, and he refused to transfer those
achievements to the classroom. Apart from verbal reassurances, prompting
consisted in his home teacher pointing with her index finger to the left
of the paper where D. V. was requested to write, without any direct
contact with him, and without any verbal or physical suggestion. If that
prompt was interrupted, then he would stop writing and close his exercise
book.
Under the constant tutoring of his caregivers, D. V.’s writing abilities
showed gradual improvements until the age of 14, when he unexpectedly
became able to autonomously write not only words and simple phrases but
also his own ideas, introspections and remembrances, still under the same
kind of prompting.
We present here a few excerpts, literally translated from D. V.’s
manuscripts in Italian, his only language. In the first manuscript he
gives an account of his relationship with his brother: “Dear C., … even if
we live under the same roof we do not know each other you are young so I
introduce myself I am D. your big brother who looked constantly absent but
on the contrary was watching you as you were growing up … I was born
normal as every other child but it is not clear to me what happened only
that I could not speak with anybody I always envied you because everybody
took care of the small newborn. Nobody ever thought that D. could have
desires and dreams as you do, the problem is that I did not know how to
say it … I know that I will be never considered as a normal person but
Alessandra has made me feel special and she has made me feel like to be as
you are. I love you do not give up your attempts to know me”. In another
manuscript, D. V. addressed his father: “Dear dad, I have realized that I
never dedicated a letter to you … I miss you when you are at work, and you
stay out all day. I do not know how much you have accepted me I do not
know how often you have felt ashamed to keep me near you… I wish I had
what other children have got go out with the family for a walk go to a
party play with you and have a bike to go out with you and you can teach
me how to use it”.

D. V. wrote about his disability, affirming that he was very ill, but
not stupid. He explained that he could accept to write down his ideas only
when “sincerely friendly people” paid full attention to him; “other people
must deserve me”, he stated.

Assessment after 14 years of age.

The diagnosis of autism was confirmed by two different child
psychiatrists (S. L. and C. D.), according to DSM IV criteria, and we also
tested D. V. with the WISC-R [3], italian version, to verify his I. Q. He
correctly gave written answers to questions such as: “what do rage and joy
have in common?” (a: “they are feelings”), “what is the importance of
having senators and deputies” (a: “to steer Italy and to govern it
democratically”). His verbal IQ was 112, performance 55, full scale 83.
The only performance sub-test he coped with efficiently was picture
completion. When D.V. was 15, his score at the CARS [4] was in the range
of severe autism (40.5), and his mean developmental age at the Vineland
Adaptive Behavior Scales [5], Italian version was 3 years, 6 months. So,
considering his performances under neither help nor prompt, he was very
disabled.
D.V. now shows average levels of learning through written assessments,
after concluding the third year of a professional school and he has been
well accepted and helped by his schoolmates.
His writing style is peculiar: D.V. moves almost mechanically from the
left to the right side of the paper, producing a simplified and
stereotyped kind of block letters.

Discussion

The case of D. V. has added to our understanding of autism. The full-
blown autistic picture that D. V. presented, together with a complete
absence of language and low performance abilities were all misleading
signs for us. Although we underestimated D. V.’s real potential, years of
mainstreaming and home teaching seem to have been helpful in his case. We
doubt that this boy would have been able to assimilate the same elements
of knowledge and concepts had he been involved in an individualized
teaching in a class for children with mental retardation. To our
knowledge, there have not been reports of similar cases in the literature,
although some high - functioning persons with autism have referred of
being more able to express themselves through their writings than during
direct verbal interaction [6]. This case indicates that in severe cases of
autism, complex reasoning is possible, and that the deficit of
coordination between brain organizations may be limited to systems which
mediate the translation of thoughts to spoken words and phrases and to
sectors controlling non-verbal aspects of cognitive functioning. Although
speculative, our inference is that if autism is a dysfunction of
interneurons [7, 8], then the brain (cortical and possibly subcortical)
distribution of that dysfunction may produce different clinical profiles
in different individuals, unexpectedly sparing networks of complex
processing in sporadic cases.

Acknowledgements
We are grateful to D. V.’s parents and to him, for giving his written
assent to the publication of this manuscript.

REFERENCES

1. Rapin I, Dunn M. Update on the language disorders of individuals
on the autistic spectrum. Brain Development, 2003, 25:166-72.

2. American Psychiatric Association. Diagnostic and statistical
manual of mental disorders (3rd ed. revised). 1987, Washington, DC:
Author.

3. Wechsler D. Manual for the Weschsler Intellingence Scale for
Children, New York: Psychological Corporation, 1949 (Italian edition, O.
S., Florence).

4. Schopler EC, Reichler RJ, & Renner B. The Childhood Autism
Rating Scale (CARS), Los Angeles, CA: Western Psychological Services,
1988.

5. Sparrow S, Balla D & Cicchetti D. Vineland Adaptive Behavior
Scales. American Guidance Service, Circle Pines, MN, 1984. (Italian
edition, O. S., Florence).

6. Williams D. Autism, an inside-out approach, Jessica Kingsley
Publishers, London, 1996.

7. Petropoulos H, Friedman SD, Shaw DWW, Artru AA, Dawson G, Dager
SR. Gray matter abnormalities in autism spectrum disorder revealed by T2
relaxation. Neurology 2006;67:632–636.

8. Loddo S. Gray matter abnormalities in autism spectrum disorder
revealed by T2 relaxation. (letter) Neurology. 2007;68(15):1237; authors
reply 1237-8

Competing interests:
None declared

Competing interests: No competing interests

21 June 2007
Silvio Loddo
Child and Adolescent Psychiatrist
Alessandra Corrias, Caterina Dessì, Francesca Scintu
Neuropsichiatria dell'Età Evolutiva, AUSL n. 5 Oristano, Piazza S. Martino, 09170 Oristano