The Autisms (4 edn)

Mary Coleman and Christopher Gillberg

https://doi.org/10.1093/med/9780199732128.001.0001
Published: 2011 Online ISBN: 9780199323036 Print ISBN: 9780199732128

CHAPTER

1 Diagnosis of the Autisms in Infancy 

Mary Coleman, Christopher Gillberg

https://doi.org/10.1093/med/9780199732128.003.0001 Pages 5–16

Published: November 2011

Abstract
Chapter 1 discusses the diagnosis of the autisms in infancy, including screening, clinical presentation,
diagnosis, and disorders of the ESSENCE (early symptomatic syndromes eliciting neurodevelopmental
clinical examinations) group.

Subject: Neurology

The autisms are usually diagnosed after the child’s second birthday, and sometimes much later, including in
adult age. Subtle, moderate, or major symptoms of core impairments and unspeci c behavior changes occur
before 18 months of age in a majority of all cases of autistic disorder. In so-called Asperger syndrome and
other nonclassic cases, symptoms warranting work up and diagnosis may not appear until after the child’s
third birthday, and it is common for a more de nitive diagnosis to be made only when the child is well into
the school years. However, recent epidemiological studies suggest that it should be possible to identify and
diagnose autism in about 60% of all cases before age four years (Fernell and Gillberg 2010, Nygren et al.
2011).

There are a number of other conditions and disorders that present with developmental, communication,
and/or behavioral symptoms before the child’s third to fth birthday. These include attention-
de cit/hyperactivity disorder (ADHD), developmental coordination disorder (DCD), speci c language
impairment (SLI), mental retardation (MR), and a whole host of so-called behavioral phenotype syndromes
(BPS). One of us recently launched the concept of ESSENCE (early symptomatic syndromes eliciting
neurodevelopmental clinical examinations) to draw attention to the fact that all of these syndromes overlap
both at the genetic, environmental, and symptomatic levels to an extent that it is often di cult to separate
them from each other at the earliest age of presentation. However, there is now good evidence that whatever
the nal speci c diagnosis within this group of ESSENCE, intervention is usually called for as soon as a
p. 6 problem is recognized (Gillberg 2010). Therefore, when screening for the autisms in the rst few years of
life, one should expect to come across complex cases of comorbidity (here meaning several symptom
constellations/disorders/syndromes occurring together in one and the same child), as well as overdiagnosis
and underdiagnosis with respect to the speci c problem of autism. Nevertheless, most babies presenting in
clinics with concerning symptoms of developmental deviance or delay, communication deviance or delay, or
behavioral deviance or delay, have severe problems that will sooner or later be diagnosable as one (or more)
of the disorders in the ESSENCE group. Therefore, the risk of overstating the case for an early diagnosis of
ESSENCE is slim.

The age of obvious clinical onset in autism can, in rare instances, be as early as the rst hour of life
(nevertheless, it is not recommended that an autism diagnosis be made at that time). An infant with autism
may be born with such severe haptic defensiveness (sensitivity of the tactile system) that the child screams
when held, and the mother ends up feeding the infant by holding the bottle over the crib (or even tying it
with ribbons to the walls of the crib) without actually touching the infant (Coleman 1989). Such infants have
 great di culty tolerating breast-feeding because of the tactile interaction involved. Instead of being
soothed by the mother’s touch, it appears to cause the child discomfort or even pain. However, such failure
to settle in the mother’s arms, or lack of cuddliness, if not in such an extreme degree, can sometimes be
seen in perfectly normal children (Scha er and Emerson 1964), so this symptom, by itself, cannot be used
for screening purposes in detecting infants with autism. In other instances, the baby’s facial movements are
so minimal that there is a Moebius-like appearance, the child looks like “a little professor” with serious
unblinking eyes and an overall hypoactivity that should be alarming, but which is currently often attributed
to “personality.” There is growing evidence that facial muscle innervation is very unusual in autism (Rodier
2002), and these early signs reminiscent of Moebius syndrome should probably be taken more seriously in
the future.

Thus the question arises: are there speci c or very high-risk symptoms that can alert the clinical observer
to the possibility of an autistic syndrome in a very young infant? In view of the developing understanding of
medical etiologies, and the speci c therapies that are sometimes available, this question is no longer
limited to an academic exercise. It may be quite helpful to the child if educational and behavioral
interventions, now possibly sometimes combined with medical treatment in some cases, can be started very
early.

Since the autisms represent a group of conditions with multiple etiologies, it is not anticipated that
particular, speci c signs and symptoms will be present in a high percentage of cases. However, when a
combination of signs and symptoms is present in a neonate or a very young child, it may alert the physician
and the family. In our experience, and that of other observers in the eld of autism, many parents realize
that something is very di erent about their child from the start, or almost from the start (Gillberg 1984).
Although it is quite a di cult task in many cases, it is important for physicians to use what medical
knowledge exists to decide whether a child is at risk for autism, while avoiding undue worry in parents of
unusual but “normal” babies. We believe that now is also the time to put a stop to the notion that the
primary goal of doctors is to put parents´ mind and worries at rest. As already pointed out, most babies
whose parents worry about their child’s development or behavior su ciently to apply for help, actually do
have diagnosable and treatable conditions. It is usually inappropriate to sit back and relax, and wait and see
what nature will do without any support. Of course, this is not to say that parents presenting with concerns
about their baby’s development are always right to worry. However, the widespread belief–even among
p. 7 health professionals–that parents usually worry for no good reason is not supported by the evidence.

Early Signs That May Signal the Risk of Developing Autism

Most children with autism have no obvious physical stigmata. However, a sophisticated examination of an
infant could reveal signs that should alert the clinician to the possibility of the presence of a
neurodevelopmental disorder, including autism. Several studies, have di erentiated children with and
without autism (Walker 1976, Campbell et al. 1978, Links et al. 1980) on the basis of minor physical
anomalies. Ear anomalies were a common nding in these studies, including malformations, asymmetrical,
soft, or pliable ears, adherent lobes, and, especially, low-set ears. (Incidentally, these ear anomalies might
well account for some of the association of autism with conductive hearing loss (Smith et al. 1988).)

Macrocephaly is often present in autism (about 20% of all individuals with an autism spectrum diagnosis
have head sizes encountered in only 2% of the general population (Gillberg and de Souza 2002)). When
diagnosing macrocephaly it is important to relate the child’s head size to other growth parameters such as
length and weight. However, it also appears that autism may be overrepresented in generally large children.
Even though it is important to recognize that the vast majority of children with autism do not have large
heads (and indeed, a minority is microcephalic) it is clear that any child with macrocephaly presenting with
a developmental concern of any kind should be looked at with a view to diagnosing or excluding autism.
Occasionally, the macrocephaly signals a speci c syndrome–such as Sotos syndrome or PTEN hamartoma-
tumor syndrome–that are themselves associated with a high risk of autism.

Other signs that have been shown to be statistically associated with autism, and that might alert the
examiner of the infant, include hypertelorism, partial syndactyly of the second and third toes, and mouth
anomalies (high palate, tongue furrows, and smooth/rough spots). Although none of these signs are speci c
to autism and they can all be seen in other syndromes, they can be helpful when combined with the clinical
symptoms in the very young patient.
 Muscular hypotonia in the newborn period may signal a variety of developmental disorders, including
autism. For instance, in the fragile X syndrome, hypotonia is a fairly common feature, and in 20% of
newborns with this syndrome attention was alerted by clinically manifest hypotonia. Prader-Willi
syndrome, occasionally associated with autism, also often presents with extremes of hypotonia in the
newborn period.

A systematic study of home videos of 17 infants who later developed the full syndrome of autism revealed
that, without exception, there were marked abnormalities of motor performance/motor style and/or an
abnormal facial expression, including a Moebius-like mouth (Teitelbaum et al. 1998). This nding has since
been con rmed to apply also to individuals later diagnosed with Asperger syndrome (or given the diagnostic
misnomer label of “high-functioning autism”).

Early Symptoms That May Alert the Clinician to the Possibility of

Autism

There are very few studies of early symptoms (Gillberg et al. 1990, Arrieta et al. 1990, Wolman et al. 1990,
Gillberg et al. 1990, Fernell et al. 2010) and even fewer observational records available on people with autism
during the rst years of life. Such evidence as there is suggests that nonspeci c symptoms, such as facial
motor movement problems, lack of initiative, hyperactivity, sleep problems, auditory perceptual
abnormalities, and feeding di culties, are often the rst to be recognized.

p. 8 A series of studies is available from Sweden, in which early symptoms have been delineated by both
retrospective and current and prospective study (Dahlgren and Gillberg 1989, Gillberg et al. 1990, Fernell et
al. 2010). In the Dahlgren and Gillberg study, a 130-item questionnaire was lled out by mothers of sex-,
age-, and IQ-matched mentally retarded and population-representative normal children, as well as by the
parents of children with autism. The study was retrospective, and the subjects were 7 to 22 years old at the
time the parents completed the questionnaire. In the Gillberg et al. 1990 study, the same questionnaire was
used in a study of children with autism who were seen before age three years, whose mothers completed the
questionnaire before the child’s third birthday. The children were followed up prospectively, and a diagnosis
of autism established after three years of age. The results were contrasted with ndings obtained in an age-,
sex-, and IQ-matched comparison group without autistic symptoms. Table 1.1 lists the 28 items that
characterized the autism group in either the prospective study only (ten items) or the retrospective study
only (eight items) or in both studies (ten items). Two further items pertaining to overall developmental
backwardness (late development and late speech development) also distinguished the autism from the non-
autism retarded group in the prospective study. It is of some interest that a number of items thought to be
typical of autism (“loves to spin objects,” “walks on tiptoe,” “turns light on and o ,” “does not like to sit
on somebody else’s knee,” “dislikes change of routine,” “fascinated by sight of running water”) did not
discriminate between groups either in the prospective or retrospective study.
Table 1.1 Items Discriminating Autism from Learning Disability and Normality under Age Three Years

AREA/ITEM

Prospective study (Gillberg et al. 1990)

Retrospective study (Dahlgren and Gillberg 1989)

Social

Appears to be isolated from surroundings/

Doesnʼt smile when expected to

Di iculties getting eye contact

Doesnʼt matter much whether mum or dad is close by or not

Doesnʼt like to be disturbed in own world

Contented if le alone

Communication

Doesnʼt try to attract adultʼs attention to own activity

Di iculties imitating movements

Late speech development

Doesnʼt point to objects

Doesnʼt understand what people say

Canʼt indicate own wishes

Play behavior

Doesnʼt play like other children

Occupies self only when alone

Plays only with hard objects

Odd attachments to odd objects

Perception

There is (or has been) a suspicion of deafness

Empty gaze

Overexcited when tickled

There is something strange about her/his gaze

Interested only in certain parts of objects

Exceptionally interested in things that move

Doesnʼt listen when spoken to

Strange reactions to sound

Doesnʼt seem to react to cold

Engages in bizarre looking at objects, pattern and movements

Rhythmicity

There are days/periods when she/he seems much worse than usual

Severe sleep problems

 The latter study demonstrated that in quite a number of cases of children referred in infancy with a
suspicion of autism, it is possible to arrive at a correct diagnosis very early, particularly if the child is also
mentally retarded. Also, at least a quarter of children believed to su er from autism during the rst few
years of life will later be shown to have other developmental problems, or, in rare instances, to be perfectly
normal at follow-up.

Nonspecific Early Problems

Even though overall late development is typical both of children with autism and of children with mental
retardation, there were clear trends in the Swedish studies for “abnormalities of any kind” to have been
observed earlier in autism than in mental retardation. This held even if autism cases were compared with
non-autism cases with severe mental retardation, provided that comparison across cases was performed at
corresponding IQ levels. These ndings corroborated those of Short and Schopler (1988).

Sleep problems and a strong tendency for periodicity were noted in the retrospective but not in the
prospective study, thus implying that caution may be warranted as regards generalizing about them. There
is, quite naturally, considerable overlap in respect to early symptoms in autism and mental retardation.
According to a study of schizophrenia with childhood onset (Watkins et al. 1988), there may also, in certain
cases, be considerable similarity between the early histories of children with school-age onset
schizophrenia and infancy-onset autism.

In the Gillberg et al. (1990) study, mothers were asked to describe in their own words what they had rst
noted as possibly abnormal in the child. “Abnormalities of eye contact” was the single most common type
of abnormality reported and had been noted around age one to eight months. A few had worried about
“strange reactions to sound” around age one year. Otherwise, no speci c symptoms emerged as
characteristic of autism. Rather, di use concern about something “not touchable,” or “not graspable,”
tended to prevail. However, it is again necessary to point out that in high-functioning children with autism
there may be no characteristic (speci c or nonspeci c) signs in infancy.

p. 9
Early Symptoms That May Be Specific to Autism in Infancy

Abnormal responses to sensory stimuli tend to represent the most characteristic group of symptoms in
autism cases referred in infancy (Ornitz et al. 1978, Ornitz 1988, Gillberg 1989). In the study by Gillberg et al.
(1990), 10 out of 28 possibly speci c symptoms of autism belonged in this group (see Table 1.1); this was not
an e ect of there being more questionnaire items in this category than in the four others (social,
communication, play behavior, and rhythmicity). Except for abnormal perceptual responses, symptoms
associated with autistic aloneness, motor performance dysfunction, and abnormalities of play tend to be
those most clearly evident in infants with autistic symptoms.

In a study by Sauvage et al. (1987), a relative lack of mimicry and an expressionless face were found to be the
most common rst signs of autism, at least as judged from home movies. The studies by the Teitelbaums
(Teitelbaum et al. 1998) are important in suggesting that early abnormalities of motor functioning
(Moebius-like face, strange patterns of moving from back to front, compartmentalized motor development)
could be the rst easily observable signs of autism. It is interesting that abnormal babble, widely believed to
be an early symptom of autism, has not shown up in recent studies.

In a collaborative study between the Department of Psychology at the University of London and the Child
Neuropsychiatry Clinic in Goteborg, siblings of children with autism were examined at age 18 months with a
view to nding symptoms of autism (and, in particular, symptoms of empathy/theory of mind de cits). A
Checklist for Autism in Toddlers (CHAT) was used. Four out of 41 examined siblings were diagnosed as
su ering from autism; all four could be predicted on the basis of reported de cits in two or more of
imaginative play behaviors, shared attention, protodeclarative pointing, social interest, and social play, at
age 18 months (Baron-Cohen et al. 1992). In a later study, three items—protodeclarative pointing, gaze-
monitoring, and pretend play—on the CHAT were found to have relatively good screening ability, at least
for classic autism cases (Baron-Cohen et al. 1996). In a more recent study, using a modi ed version of the
CHAT (Robins et al. 2001), the following symptoms were listed as particularly salient for the identi cation
of autism before age three years: no interest in other children; no use of index nger to point to indicate
 interest; does not bring objects to show; no imitation; no response to own name and no looking at toy
indicated across the room.

In an ongoing study in our center (Höglund-Carlsson 2010 in progress), children with autism with later
documented normal levels of intellectual functioning showed very few recorded (child health records from
well-baby clinics) abnormalities in the rst year of life, a nding that indicates that it might not be possible
to identify any clear “signal” symptoms suggesting a high risk for autism in “high-functioning”
individuals who will later receive a clinical diagnosis in the autism spectrum.

The Clinical Picture of Autism Developing in Infancy

It appears that about three-quarters of children with autism show symptoms and signs of the disorder
already in the rst 18 to 30 months of life (Gillberg 1989). However, when discussing infancy in autism, it is
important to keep in mind the multiple etiologies and di erent ages of onset. There are patients in whom
one can look in vain for symptoms during early infancy (Figure 1.1). In such cases, often a clear month of
onset can be gleaned from parent report in the second or third year of the child’s life (Wing 1980). Although
not disputing the existence of such forms of autism, it is clear that even in the group with an apparent
p. 10 setback, careful, detailed, retrospective history-taking with the parents will often reveal that there have
been early developmental delays and abnormalities (Wing 1971, Fernell et al. 2010). Also, there are the high-
functioning cases in which it may only become gradually obvious that the child’s development is deviant
(Gillberg 2002). The abnormality in the brain that causes autism may well have been there from before
birth, in certain cases, but before a certain age the nervous system is able to deal with the demands posed by
p. 11 development. Gradually, the brain can no longer fully cope with these demands and the autistic
symptoms appear clearly for the rst time. In such cases, autism, even if congenital, will appear to have its
onset after infancy.

Figure 1.1

Six-month-old boy later diagnosed with idiopathic autism.

Many infants with autism show little facial motor activity, no response or no smile. They may lack the
normal anticipatory reactions typical of healthy children about to be picked up by their parents. The
abnormal response to sound is often obvious in the second half of the rst year, and many children with
autism have been thought to be deaf by persons outside the immediate family (who know they cannot be).
There may be major sleep problems or the child may be perceived as “too good to be true,” never
demanding attention. Feeding problems, in both breast-fed and bottle-fed babies, are very common, the
child either displaying sucking di culties, holding the head in sti and strange postures, or, more rarely,
actively turning away.

Many children with autism are mildly motor impaired, moderately sensorically deviant, or are extremely
behaviorally deviant even during the rst year of life. They may engage in stereotyped hand movements and
be completely passive, not interested in exploring their environment—indeed, showing no initiative
whatsoever, and perhaps already ercely protesting when demands are made or routines changed. A few
reject body contact. Many prefer to be left alone.

Toward the end of the rst year, the child’s lack of initiative, failure to initiate joint attention, and reduced
interest in exploring the environment come into focus. The child will not look for things that disappear out
of vision as normal children of the same age will do. They do not show shared attention behaviors in relation
to other individuals as early as other children do, and one- nger pointing is rarely achieved until several
years later. They also fail to develop signs of the emergence of a theory of mind (Frith 1989). In other words,
they seem to be unable to understand that other people may have minds of their own (see also Chapters 2
and 9).

Instruments Developed with a View to Diagnosing Autism at or Under

Three Years of Age

The SAB (Symptoms of Autism in Babies) is a questionnaire which was developed by Dahlgren and Gillberg
(1989). It has been used in prospective and retrospective studies (see above). On the basis of the limited
empirical study and clinical experience with this instrument, a screening model for autism in infancy has
been suggested (Gillberg 1989). This model (Table 1.2) should not be regarded as an exact device, but rather
as a checklist to be used if the child has anything to suggest autism or an autistic-like condition, or if the
parent is concerned about the child’s behavior or development.
 Table 1.2 Screening for Autism at Ages 10 and 18 Months

1. The following questions to the mother provide a tentative framework for a checklist to be used whenever there is
(even mild) suspicion of autistic-like behavior or autism:

Do you consider your childʼs eye-to-eye contact to be normal?

Do you think that she or he listens to you or has normal hearing, or does she or he react only to particular sounds?

If there are, or have been, any feeding problems or abnormal behaviors in connection with feeding, what were they?

Is she or he comforted by proximity or body contact?

Does she or he show any interest in her/his surroundings?

Does she or he o en smile or laugh quite unexpectedly?

Does she or he prefer to be le alone?

Is your child, on the whole, like other children?

2. Examine the following features systematically:

Hand stereotypies (including strange looking at or posturing of hands)

Avoidance of gaze contact

Sti , staring gaze

Rejection of body contact

No, or very variable, reaction to strong, unexpected noise

Obvious lack of interest (e.g., does not show interest in peek-a-boo games)

Another early autism screening checklist was developed by Uta Frith and collaborators (Johnson et al. 1992).
These authors examined infant hearing and vision screening tests for a group of children subsequently
diagnosed as autistic, and compared them with a group of children su ering from nonspeci c
p. 12 developmental delay, as well as with a random sample of records. Four categories (motor, vision,
hearing and language, social) were investigated at three ages: 6, 12 and 18 months. The random sample
group had a low incidence of reported problems at all ages. The learning-disabled group had a sharp
increase in reported abnormalities in all categories at 12 months. The autistic group had a selective increase
in the social category alone at 18 months.

The DSM-IV autistic disorder checklist has been tested for reliability, validity, and stability over time in
children with autism spectrum disorders under three years of age (Stone et al. 1999a). Certain items,
referring speci cally to peers and to language and conversational skills, are not useful in identifying these
very young children with autism. This should come as no surprise, given that such skills are not well
developed at a very young age in normal children either.

The Checklist for Autism in Toddlers (CHAT) was developed by a British group in collaboration with one of
the authors of this book (Baron-Cohen et al. 1992). It aims to identify children suspected of su ering from
autism at around age 18 months. The checklist has now been used in several studies of very young children
with autism and in general population samples, and has been shown to have relatively good validity even
though it tends to underidentify a group with relatively later onset of severe/clinically important symptoms.
Also, in a setting where sta have been trained to look for autism in infants, the addition of the CHAT does
not appear to increase the number of cases identi ed (Höglund-Carlsson et al. 2010). The CHAT is outlined
in Table 1.3.
 Table 1.3 Checklist for Autism in Toddlers (the CHAT)

Section A

Ask parent:

1. Does your child enjoy being swung, bounced on your knee, etc.?

2. Does your child take an interest in other children?

3. Does your child like climbing on things, such as up stairs?

4. Does your child enjoy playing peek-a-boo/hide-and-seek?

5. Does your child ever pretend, for example, to make a cup of tea using a toy cup and teapot, or pretend other things?

6. Does your child ever use his or her index finger to point, to ask for something?

7. Does your child ever use his or her index finger to point, to indicate interest in something?

8. Can your child play properly with small toys (e.g., cars or bricks) without just mouthing, fiddling, or dropping them?

9. Does your child ever bring objects over to you (parent), to show you something?

Section B

GPʼs or health visitorʼs observation:

i. During the appointment, has the child made eye contact with you?

ii. Get childʼs attention, then point across the room at an interesting object and say “Oh look! Thereʼs a (name a toy)!” Watch
childʼs face.

iii. Get the childʼs attention, then give child a miniature toy cup and teapot, and say “Can you make a cup of tea?” Does the
child pretend to pour tea, drink it, etc.?

iv. Say to the child “Whereʼs the light?” or “Show me the light.” Does the child point his or her index finger at the light?

v. Can the child build a tower of bricks? (If so, how many?)

A modi ed version of the CHAT (the M-CHAT) has now been tried in many studies across the globe. It has
been shown to discriminate fairly well between autism and other developmental disorders (and
“normality”) in children aged 18 and 24 months (Robins et al. 2001, Canal-Bedia et al. 2010). It is currently
probably the most used instrument for autism screening that is available. However, as with the CHAT, many
of the highest-functioning individuals, including those with a clinical diagnosis of Asperger syndrome, will
p. 13 not screen positive at such a young age. Cases identi ed by the M-CHAT are often severe and typical, and
it is doubtful as to whether its use increases the number of cases discovered in a well-baby-setting,
providing that health sta has been well educated in the eld of autism. Even though it has relatively good
psychometric properties, it is not perfect and should not be used as a screening device that excludes the
need for individual assessment by trained clinicians. All the various screening instruments for infant
detection of autisms are probably of little avail unless they are combined with programs aimed at increasing
the personal sensitivity for autism in each individual screener. The M-CHAT is outlined in Table 1.4.
 Table 1.4 The M-CHAT (Six Most Salient Items Indicated by *)

PLEASE FILL OUT THE FOLLOWING ABOUT HOW YOUR CHILD USUALLY IS. PLEASE TRY TO ANSWER EVERY QUESTION. IF
THE BEHAVIOR IS RARE (E.G., YOUʼVE SEEN IT ONCE OR TWICE), PLEASE ANSWER AS IF THE CHILD DOES NOT DO IT.

1. Does your child enjoy being swung, bounced on your knee, etc.?

2. Does your child take an interest in other children?*

3. Does your child like climbing on things, such as up stairs?

4. Does your child enjoy playing peek-a-boo/hide-and-seek?

5. Does your child ever pretend, for example, to talk on the phone or take care of a doll or pretend other things?

6. Does your child ever use his or her index finger to point, to ask

7. Does your child ever use his/her index finger to point, to indicate interest in something?*

8. Can your child play properly with toys (e.g., cars or bricks) without just mouthing, fiddling or dropping them?

9. Does your child ever bring objects over to you (parent) to show you something?*

10. Does your child look you in the eye for more than a second or two?

11. Does your child ever seem oversensitive to noise (e.g., plugging ears)?

12. Does your child smile in response to your face or your smile?

13. Does your child imitate you (e.g., you make a face–will your child imitate it)?*

14. Does your child respond to his/her name when you call?*

15. If you point at a toy across the room, does your child look at it?*

16. Does your child walk?

17. Does your child look at things you are looking at?

18. Does your child make unusual finger movements near his/her face?

19. Does your child try to attract your attention to his/her own activity?

20. Have you ever wondered if your child is deaf?

21. Does your child understand what people say?

22. Does your child sometimes stare at nothing or wander with no purpose?

23. Does your child look at your face to check your reaction when faced with something unfamiliar?

The Infant Behavior Summarized Evaluation (ISBE) scale was developed by a French group (Barthélémy et
al. 1990) on the basis of their Behavior Summarized Evaluation (BSE) scale, which had previously been
tested for reliability and validity in several studies.

Very young children with autism show clearly di erent patterns of correspondence between mental age and
adaptive behavior levels, as re ected in results on the Vineland scale, than do children with non-autistic
developmental delay (Stone et al. 1999b). It appears that the Vineland scale may be one of the best tools for
identifying the broader autism spectrum group in children around three years of age or younger.

The Autism Diagnostic Observation Schedule (ADOS) (Lord et al. 1989) was originally developed as a
research instrument to be used in conjunction with the Autism Diagnostic Interview (ADI) (Le Couteur et al.
1989) for the establishment of a rm diagnosis of autism in slightly older children. There is now a
p. 14 prelinguistic version (PL-ADOS) containing systematic structured observation measures that can be
used in the work up of very young children. However, it is not a screening device and should only be used by
sta having received special instruction in its use.

The Diagnosis Interview for Social and Communication Disorders (DISCO) is an in-depth collateral
interview (usually performed with one of the parents) that provides detail about the rst few years of the
 child’s life and symptom development over time during that period. It can be helpful in picking up the very
early symptoms of autism, but, as with the ADI, the problem is that it is usually administered “after the
fact,” for diagnosis several years after these rst signs and symptoms may have abated or been obscured by
emerging new problems.

Summary

On the basis of the empirical study and clinical experience with the SAB, CHAT, or M-CHAT, a screening
model for autism in infancy has been suggested. This model should not be regarded as an exact device, but
rather as a checklist to be used if the child has anything to suggest autism or an autistic-like condition, or if
p. 15 the parent is concerned about the child’s behavior or development. It should only be used by sta with
su cient in-depth training pertaining to core autism features and education about typical and atypical
infant behavior. It is likely that the best route to early identi cation of autism or children at risk for later
autism is the in-depth training of medical sta (including health visitors) about typical and atypical infant
development (Nygren et al. 2010, Oosterling et al. 2010). In the future, it will be essential to try to
distinguish early symptoms in autism according to the diagnosed, underlying medical condition. Finding
unifying features in autism will remain important for screening purposes, but di erentiation of early
symptoms in accordance with underlying etiology will become crucial if we are to better understand the
developmental relationships of brain behavior.
References

Arrieta, M.I., Martinez, B., Criado, B., Simón, A., Salazar, I., Lostao, C.M. (1990) Dermatoglyphic analysis of autistic Basque
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