Original Paper
Psychopathology 517 Received: January 15, 2004
DOI: 10.1159/0000XXXXX
PR
Course of Autism Signs in the First Year
of Life
S. Maestro F. Muratori A. Cesari M.C. Cavallaro A. Paziente C. Pecini
C. Grassi A. Manfredi C. Sommario
Division of Child Neuropsychiatry, Scientific Institute Stella Maris, Pisa University, Pisa, Italy
Key Words
Autism spectrum disorders ! Home movies ! Behavioral
summarized evaluation scale
OO
Abstract
Autism spectrum disorders (ASD) are thought to be pres-
ent right from birth, even if a minority of children dis-
plays a normal course during infancy followed by a re-
gression during the second year of life. However,
established criteria are not yet available to differentiate
these different courses of ASD, and data coming from
different sources have not yet been organized into a clear
definition. The aim of this study was to elucidate the time
of onset, as well as type, frequency and stability of symp-
toms during the first year of life in ASD. The behavioral
summarized evaluation scale, applied to 40 home mov-
ies of children later diagnosed as having ASD, showed
that most of the subjects (87.5%) display symptoms with-
in the first year of life, when only a small group (12.5%)
is completely symptom free. A group of more rated
symptoms was found, constituting a typical pattern char-
acterized by being withdrawn, and displaying poor social
initiative, hypoactivity, and lack of emotional modula-
tion. The importance of these findings is discussed in
F
relation to early diagnosis and treatment.
Copyright © 2004 S. Karger AG, Basel
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Fax +41 61 306 12 34
E-Mail karger@karger.ch Accessible online at:
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PSP517.indd 1
Accepted after revision: September 23, 2004
Introduction
Clinical descriptions of autism suggest different types
of presentations, including early-onset and regressive
cases. The majority of children with autism are usually
identified by 24 months of age [1, 2]. However, a rate
ranging from 12 to 76% of children is reported as symp-
tomatic within the first year or few months of life [3]: for
these cases, developmental abnormalities concern social
interaction, nonverbal communication, sensory and mo-
tor skills. Other children, ranging between 20 and 49%,
display a normal course during infancy followed by the
onset of symptoms during the second year of life [4–7].
Even if this second course is characterized by an insidious
or sudden loss of previously established developmental
milestones [8–10], these cases, however, do not meet ICD
or DSM criteria for disintegrative disorder. In fact, a few
parents of children with autism report some degree of re-
gression after the first birthday [11], but it appears differ-
ent from the regression in disintegrative disorder [4, 6];
i.e., it may exhibit a fluctuating pattern [8, 12], and its
importance in autism remains the topic of many debates.
Established criteria are not yet available to differentiate
these courses, and the data coming from different
sources (parents’ reports, structured retrospective inter-
views, early screening instruments, home movies) have
not been organized into a clear definition. Many studies
confirm that autism spectrum disorder (ASD)-specific
impairments change with age and development; for ex-
Filippo Muratori
c/o IRCCS Stella Maris
Via dei Giacinti, 2
IT–56018 Calambrone – Pisa (Italy)
Tel. +39 050 886292, Fax +39 050 886247, E-Mail f.muratori@inpe.unipi.it
16.11.2004 08:34:30
 Table 1. Clinical and demographic description of the sample
AD PDDNOS
(n = 21) (n = 19)
Male/female 16/5 16/3
PR Mean age at diagnosis, years 39.0 38.4
Cognitive level (normal/delay) 10/11 8/11
CARS (mean score) 38.7 35.5
CARS = Childhood autism rating scale.
ample, many young children may meet all criteria for
autism with the exception of stereotyped mannerisms
and repetitive behaviors which need a certain degree of
brain development to develop. Besides, difficulties arise
from the evidence that, during the first year of life, many
abnormalities are not easy to detect, because they can be
hidden by a certain degree of social and nonsocial devel-
opment. In a previous prospective study [Maestro et al.,
unpubl. data] on attentional skills in ASD during the first
OO
year of life, we pointed out an early deficit in social atten-
tion which could be less clear because of the good atten-
tion towards objects. For these many reasons, even if au-
tism begins before 3 years of age, exactly when it begins
is not known and the question regarding which signs we
could expect to observe at an early age is still open.
Different studies, which focused on the appearance of
the first symptoms in autism, have applied retrospective
video analysis referring more correctly to age of onset
rather than age of symptom recognition by parents. These
studies pointed out that young children, later diagnosed
as having ASD, can be distinguished from typical chil-
dren with respect to interaction and attachment [13], so-
cial attention [14], communication, motility and atten-
tion [15], intentional communication and imitative abil-
ity [16]. In some of these studies [14, 15], the behavioral
summarized evaluation (BSE) scale was used to quantify
symptom severity. In a previous research [9], we, too,
have used the BSE and we have indicated three different
courses of ASD: the progressive type with an onset with-
in the first year of life; the regressive type with an onset
during the second year of life, and the fluctuating type
F
displaying an ambiguous course with alternative symp-
tomatic periods. In the present study, we review these
findings by means of applying the BSE to a larger sample
of home movies of ASD children, and by a more stringent
2 Psychopathology 517
PSP517.indd 2
analysis of the data. The main aim consists in providing
new criteria to describe the early course of ASD; in par-
p ticular, we chose to focus on the time of onset, and the
major frequency, stability and severity of some symp-
0.81 toms during the first year of life.
(n.s.)
0.80
(n.s.) Materials and Methods
0.97
(n.s.) Sample
0.04 We studied home movies from the first year of life of a group of
40 ASD children (table 1) recruited from a cohort of patients who
had come to the Division of Child Neurology and Psychiatry of the
Scientific Institute Stella Maris for diagnosis. The group was com-
posed of 32 males and 8 females with autistic disorder (AD; 21
cases) or pervasive developmental disorder not otherwise specified
(PDDNOS; 19 cases). Participants were excluded if they had frag-
ile X syndrome, Rett syndrome, Down syndrome, sensory deficits,
cerebral palsy or any other CNS disease. We have also excluded all
cases described by their parents as appearing to have a prolonged
period (at least 2 years) of normal development before the onset of
developmental regression, or cases with no symptoms at BSE in the
second year of life. All the children were between 3.0 and 4.8 years
of age when the diagnosis was posed through a multidimensional
5-day inpatient assessment encompassing clinical observation, psy-
chological testing and biological examinations, as well as an exten-
sive interview with the parents regarding history, symptoms and
adaptive functioning. The clinical diagnosis of ASD was carried out
by consensus by two senior child psychiatrists (S.M. and F.M.) us-
ing a checklist of symptoms composed of the 12 criteria for autism
derived from the three impaired developmental areas according to
DSM-IV [17]. Interrater reliability for each item of the checklist
was calculated by the Cohen K (K value fell between 0.8 and 1). All
the children satisfied the criteria for ASD diagnosis in accordance
with the DSM-IV criteria and the consensus by the two child psy-
chiatrists. In addition to the diagnosis of AD or PDDNOS, a score
of 30 or above on the childhood autism rating scale [18] was re-
quired (mean: 37.1; range: 30–50.5). IQ was evaluated by means of
the Griffith, Leiter or Wechsler scale: 18 children had an IQ 170,
and 22 were cognitively delayed (IQ between 50 and 70). No dif-
ferences were found between AD and PDDNOS for sex, cognitive
level and age at diagnosis; the intragroup analysis (AD vs.
PDDNOS) showed the absence of significant differences in the to-
tal score obtained at BSE [t(38) = –0.96, p = 0.34], while on the
childhood autism rating scale, a significant difference was found
for higher score in AD (table 1).
Description of the BSE Scale
The BSE was developed by Barthelemy et al. [19] to evaluate
the severity of behavioral problems in children with autism. The
scale consists of 20 items on a single sheet, easy to handle, and ac-
cessible to professionals involved in the assessment of ASD. A total
score is obtained to have information on the clinical state of the
child at the time of the observation. The glossary of the scale has
been integrated with examples and descriptions from the infant
form of the BSE [20] because of the very young age of infants ob-
served in the home movies. Each infant’s behavior is rated on a
5-point scale where 0 corresponds to never observed; 1 corresponds
to sometimes; 2 corresponds to often; 3 corresponds to very often,
Maestro et al.
16.11.2004 08:34:58
 Table 2. Total scores during the first year of life and number of positive subjects on BSE items at T1 and T2

Item Total score Number of positive subjects p value

T1 T2

1 Is eager for aloneness 3 0 2 (5) 0.18

2 Ignores people 42 11 (27.5) 19 (47.5) 0.044
PR
3 Poor social interaction 51 13 (32.5) 24 (60) 0.003
4 Abnormal eye contact 39 11 (27.5) 19 (47) 0.327
5 Does not make an effort to communicate using voice and/or words 28 3 (7.5) 16 (40) 0.003
6 Lack of appropriate facial expressions and gestures 26 5 (12.5) 14 (35) 0.002
7 Stereotyped vocal and voice utterances, echolalia 5 1 (2.5) 3 (7.5) 0.276
8 Lack of initiative, hypoactivity 60 17 (42.5) 29 (72) 0.003
9 Inappropriate relating to inanimate objects or to doll 12 2 (5) 7 (17) 0.279
10 Resistance to change and to frustration 2 1 (2.5) 1 (2.5) 1
11 Stereotyped sensorimotor activity 6 1 (2.5) 4 (10) 0.102
12 Agitation, restlessness 7 1 (2.5) 3 (7.5) 0.564
13 Bizarre posture and gait 4 1 (2.5) 2 (5) 0.414
14 Autoaggressiveness 0 0 0 1
15 Heteroaggressiveness 2 0 1 (2.5) 0.317
16 Soft anxiety signs 14 3 (7.5) 7 (17.5) 0.066
17 Mood difficulties 64 16 (40) 27 (67.5) 0.011
18 Disturbance of feeding behavior 6 1 (2.5) 4 (10) 0.317
19 Unstable attention, easily distracted 4 1 (2.5) 3 (7.5) 0.157
20 Bizarre responses to auditory stimuli 0 0 0
Sum of total scores 377
Mean of total scores 8 SD 9.4787.58
OO
Figures in parentheses indicate percentages. Figures in italics are significant.

and 4 represents a behavior that is always observed. Its retrospec-
tive use on the home movies has already been described by Adrien
et al. [15].
Procedures and Statistical Analysis
At the time of assessment, families were asked to bring their
child’s videotapes and after a complete description of the study,
written informed consent was obtained. The tapes were reviewed
in detail and logged according to the child’s chronological age dur-
ing each scenario and to specific content. Chronological ages were
calculated by full months, based on the child’s birth date and the
corresponding dates appearing on the tapes. For the aim of this
study, we selected videotapes where the infant’s longitudinal devel-
opment could be clearly observable during all the first year of life.
Videotape footage varied in length from 10 to 65 min (mean: 37
min and 5 s).
The home movies were rated by four raters, psychologists and
child psychiatrists experienced with ASD children and trained by
an experienced clinician (S.M.) using video samples of children not
being part of the study. The training sessions aimed at familiarizing
F
with the BSE glossary and learning to detect early symptoms in
home movies. The training period lasted 2 months, until interrater
agreement on the score of each item reached 100%.
For the videotape scoring, we have divided recordings into two
periods: 0–6 months (T1) and 6–12 months (T2). On the basis of
the sum of total scores obtained by summing the total scores of the
20 items of all the sample at T1 and T2, we have calculated a cutoff
value, corresponding to the mean of the total scores in the sample,
minus one standard deviation. We used the cutoff value to differ-
entiate different forms of onset in ASD. First, we indicated the 12th
month as the age limit to differentiate early from late onset; sec-
ondly, we have identified subjects totally free of symptoms in the
two first semesters of life; thirdly, to find the more representative
symptoms of ASD, we have considered the frequency distribution
of the total scores for each item in the two semesters, calculated by
summing the scores of all the subjects; fourthly, a nonparametric
analysis (Wilcoxon test) was performed to find which item signifi-
cantly increased from T1 to T2. Finally, to explore differences on
the total score of BSE between AD and PDDNOS, a t test between
groups was applied.
Results
The cutoff value, derived from the mean of the total
scores (9.47) minus one standard deviation (7.58), was
1.89 (table 2). On this basis, we have identified two groups
of subjects: those with a total score 11.89 (35 subjects),

Early Signs of Autism Psychopathology 517 3

PSP517.indd 3 16.11.2004 08:34:58

 and those with a total score !1.89 (late-onset group, 5
subjects). Among the first group, 24 subjects had shown
symptoms since the first semester of life (very-early-onset
group), and 11 subjects started to display symptoms only
in the second semester of life (early-onset group).
The analysis of the distribution of each item in T1 and
PR
T2 (table 2) showed that in both periods, the items 2, 3,
4, 8 and 17 were most frequently represented and had a
score above the 80 percentile. Conversely, the items 1, 7,
10, 13, 14, 15, 19 and 20 had a score below the 25 per-
centile. All the items above the 80 percentile, except item
4, and the items 5 and 6, both regarding communication,
had a significant increase from T1 to T2.
Discussion
On the basis of the time and course of symptoms, we
could hypothesize three different types of onset in ASD:
very early onset (children start to display atypical behav-
iors within the first semester of life); early onset (children
show developmental abnormalities only within the sec-
ond semester of life after an apparently typical develop-
ment), and late onset (children appear completely non-
OO
symptomatic during the first year of life). In our sample,
87.5% of the subjects had symptoms within the first year
of life and only 12.5% became symptomatic in the second
year of life. Comparing this finding with other percent-
ages in the literature, our late-onset group results smaller
than the percentage of regressive cases reported in the
literature [4, 5]. One explanation could be related to the
particularity of the video material analyzed, which pro-
vides direct observations of the earliest stages of develop-
ment, allowing a more accurate recognition of symptoms
compared to retrospective interviews. In fact, differen-
tiation between courses in autism may be confounded by
delayed parental recognition of developmental problems,
and it is possible that regression does not represent ac-
tual regression of development but rather a failure to
progress. This is the first study to our knowledge to deep-
en early courses in ASD through direct observation of
infants in the home movies recorded by parents before
diagnosis. Up to now, developmental regression has been
explored only through maternal perception [11]. The im-
portance of regression in autism remains the topic of
some debate [21]. Several accurate studies on the devel-
F
opment of typical behaviors in autism [22–25] show sub-
tle and qualitative abnormalities of normal behaviors
which lead us to believe that developmental regression,
based on the assumption of a previous normal develop-
4 Psychopathology 517
PSP517.indd 4
ment, is only apparent. Many of the infants in the present
study display sequences of protoconversations with
adults, but these skills do not seem to anticipate other
forms of social contact. For these reasons, we now prefer
to use a definition based on the timing of symptoms (ear-
ly and late onset), and keep regression aside for cases who
regress after the second year of life. Besides, knowledge
of the longitudinal course of symptoms is important in
order to analyze how the emergence of some symptoms
may interfere with the course of developmental abilities
in the child; we propose that a better understanding of the
reciprocal interference between development of compe-
tencies and onset of symptoms can lead to the under-
standing of the core clinical problem in autism. The three
types of onset could also support the idea that the poten-
tial operation of genetic or other factors might be ex-
pressed during different critical periods [26, 27] and with
different effects on the infant as far as behavioral shifts
are concerned. The 9- to 12-month period appears to be
particularly critical for ASD processes, as pointed out by
Baranek [28] who reported the presence of subtle symp-
toms of autism at 9–12 months and suggested this period
as a window for early diagnosis and treatment.
The other area of interest of our research regards the
group of more rated items that constitutes a typical symp-
tom constellation characterized by being withdrawn (ex-
pressed by item 2: ‘ignores people’), and displaying poor
social interaction with difficulties in eye contact, hypoac-
tivity, and lack of emotional modulation (which suggests
a mood disorder). Such a clinical pattern confirms our
previous data about an early social deficit in ASD [29].
Moreover, it seems very close to prominent depressive
symptoms, supporting De Long’s [30] idea that the idio-
pathic form of autism, not associated with clear brain
damage, as our cases, might be related to familial affec-
tive psychopathology. Nevertheless, the idea that ASD
could be the expression of a severe early-life phenotype
of familial major affective disorder has to be confirmed
by an empirical study of the occurrence of affective dis-
orders in the families of our children.
Among the BSE items, hypoactivity is one of the most
frequently rated. Until recently, little emphasis had been
placed on the development of motor function, which had
often been thought to be intact. More recently, different
studies have shown that older children with autism have
some parkinsonian characteristics [31–33], but there is
still controversy over whether movement disorders play
a central role in ASD. Teitelbaum et al. [34] have sup-
ported the view that movement disturbances play an in-
trinsic part in autism from birth. Through a home movie
Maestro et al.
16.11.2004 08:34:58
PR
Fig. 1. Distribution of the frequency of total
scores for each item in the first year of life.
study, they found impairments in righting from supine to
prone, in crawling, and later on in standing and walking:
we might suggest that these impairments are responsible
for the high hypoactivity in our infants.
Moreover, the frequency of such symptoms shows a
remarkable growth from the first semester of life up to the
second one. Symptoms increasing in the second semester
of life have at least three implications: first, the identified
pattern seems specific and continuous enough; secondly,
OO
it makes these symptoms easier to detect, and confirms
the existence of a special window for early diagnosis be-
tween 6 and 12 months as suggested by Baranek [28];
thirdly, the worsening of most ASD in the second semes-
ter of life can shed light on the pathophysiology of autism
and brings our clinical observational data closer to the
finding of Courchesne et al. [35] of two phases of brain
growth abnormality: a reduced size at birth and a sudden
and excessive increase in head size in the second semester
of life. These neurobiological data are possibly an expres-
sion of a complex disorder involving brain maturation,
and it could have a clinical correlate in our increasing
symptomology in the second semester of life.
Finally, our study identifies a large group of less rated
symptoms (fig. 1) which appear to be of limited use for
very young children with autism. This negative finding
seems of great importance to prepare new tools for early
detection of autism which are able to avoid the main
problem of false-negative cases. Moreover, if only a sub-
set of criteria are applicable to very young children, it
seems possible that different diagnostic criteria might be
warranted for this age group.
F
This study might represent a contribution toward
identification of infants at risk of autism. The increased
surveillance of such infants during developmentally sen-
sitive periods could implement early intervention pro-
Early Signs of Autism
PSP517.indd 5
grams and modify the natural course of the disorder; in
fact, the particular symptom constellation, characterized
by being withdrawn, and displaying hypoactivity and de-
pression, could be exacerbated by secondary limited ex-
posure to environmental stimuli. Nevertheless, our study
has some limitations. The findings about the age of onset
should be completed by some information about clinical
outcome of the patients. In fact, there might be a correla-
tion between the age of onset and specific clinical out-
comes. The majority of studies report that children with
late-onset autism are likely to have a better prognosis,
such as the development of communicative speech [36,
37], or a higher IQ and fewer autistic symptoms [6]. In
contrast, Rogers and DiLalla [3] found that children with
early-onset autism did not display severer impairments
in cognition, social abilities, and communication. Differ-
ences in outcome could also characterize our three groups
(very early, early, late): as this was not the aim of the pres-
ent study, we mean to investigate this issue with a further
research on a larger sample.
Another limit is not to provide a control group of chil-
dren affected by mental retardation (MR). Studies of
young infants with autism that include a matched control
group of cognitively delayed children without autism are
needed to determine the specificity of our findings for
ASD. Nevertheless, we bring to attention that in a recent
study [38], the presence of a matched control group of
children with MR revealed both differences in behavior
of ASD vs. MR, and a discriminant analysis related to
prediction of ASD vs. nonautism spectrum disorders.
The specificity of the autistic process before 1 year of age
which emerges from this study [38] seems to reduce the
main limitation of our study which is the lack of a control
group.
Psychopathology 517 5
16.11.2004 08:34:58
 In summary, we could hypothesize a different timing
for the expression of the initial pathological processes
proposed by Mundy and Crowson [39] as a cybernetic
model of ASD; our findings suggest that the initial func-
tional developmental disorder, which feeds back upon
itself to give rise to additional and pernicious neurobio-
PR
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