MENTAL RETARDATION AND DEVELOPMENTAL DISABILITIES

RESEARCH REVIEWS 10: 139143 (2004)

DEVELOPMENTAL REGRESSION IN AUTISM

SPECTRUM DISORDERS
Sally J. Rogers*
University of California, Davis Medical Center, M.I.N.D. Institute, Davis, California

The occurrence of developmental regression in autism is one of the
more puzzling features of this disorder. Although several studies have doc-
umented the validity of parental reports of regression using home videos,
accumulating data suggest that most children who demonstrate regression
also demonstrated previous, subtle, developmental differences. Counter to
clinical intuition, the earlier development of social, language, and attach-
ment behaviors followed by regression does not seem to support later
recovery of skills or better developmental outcomes compared to children
who never had speech or typical social responsivity. In fact, this regressive
group may have somewhat greater developmental impairment than the
nonregressive group, though the two groups do not appear to present
different behavioral phenotypes. Although autism is not the only condition
in which regression occurs, it appears to be the most frequent condition.
Other disorders that demonstrate an early regression with no known etiol-
ogy include total blindness from birth and childhood disintegrative disorder,
both of which demonstrate behavioral relations to autism. In addition, two
biological conditions with known etiologies also involve regression with
some behaviors resembling autism behavioral phenotype: Rett syndrome (a
genetic disorder; see Glaze, this issue) and LandauKleffner syndrome (see
McVicar and Shinnar, this issue), which involves a seizure disorder.
2004 Wiley-Liss, Inc.
MRDD Research Reviews 2004;10:139 143.
Key Words: developmental regression; language; social/attachment be-
haviors
possible relation to a seizure disorder. Four main topics are
reviewed as follows:
regression as a phenomenon or epiphenomenon of
symptom development in autism
the nature of the regression
characteristics of children who have experienced such a
regression
regressive episodes in other pediatric disorders
REGRESSION: PHENOMENON OR
EPIPHENOMENON?
In clinical assessments of children with autism, the parental
history of the childs course of development frequently describes
a loss of skills that were previously well established in the childs
repertoire. Parents who report this regression mention loss of
language and loss of social interest, initiative, and involvement as
the outstanding features. The parents experience is of a child
who was developing normally across the 1st year or more of life
and whose skills and personality changed markedly over just a
few weeks or months, evolving from a typically developing
toddler to a child with the full syndrome of autism.
In the past, clinicians have wondered how much of this
report depends on the parents sophistication with markers of
typical early development. Parents are generally aware of norms
for the major milestones of early development: age of sitting,

O
ne of the more striking and unique aspects of parents
walking, and rst words (either through their previous parenting
reports of their childrens autism symptoms involves a
experiences or through comparisons with the children of friends
loss of already-acquired language and social relatedness
and family). These behaviors represent changes in childrens
skills, and the development of the autism behavioral patterns, in
behavior that are readily discernible. However, the characteris-
the 2nd or 3rd year of life. This experience leads parents to
tics of autism, especially early in life, tend to involve negative
question their childcare skills and search for explanations in the
symptoms (i.e., lower frequencies) of less dramatic behaviors
childs history. This kind of developmental regression is rare and
than the beginning of walking. Early symptoms appear to in-
most often related to the diagnosis of autism [Shinnar et al.,
volve social/communicative behaviors involving qualitative as-
2001]. The dramatic change in children for whom social relat-
pects of development: the type of play, the use of joint attention
edness was well established has made many observers question
whether regression is reective of a different condition or due behaviors, response to name, amount of time spent referencing
to a different etiologythan autism in those children where faces, and use of early communicative gestures, among others [as
symptoms appear continuous over the rst 2 years. Associations reviewed by Rogers, 2000]. Accuracy of parental assessment of
with possible onset of a seizure disorder have been frequently this early behavioral repertoire may vary with experience and
questioned. However, the fact that regression has always been
reported by parents, rather than diagnosed by physicians or other
*Correspondence to: Sally J. Rogers, PhD, M.I.N.D. Institute, UC Davis Medical
medical professionals caring for the children across the rst years Center, 2825 50th Street Sacramento, CA 95817. E-mail: Sally.rogers
of life, has occasionally raised questions about parental sensitivity @ucdmc.ucdavis.edu
to earlier, subtle symptoms. Received 23 June 2004; Accepted 25 June 2004
Published online in Wiley InterScience (www.interscience.wiley.com).
This article provides a brief review of the literature con- DOI: 10.1002/mrdd.20027
cerning the phenomenon of regression in autism, including its
2004 Wiley-Liss, Inc.
sophistication of the parents. Thus, it is
important to ask whether regression
reported by parents may be epiphenom-
enal [Volkmar et al., 1985].
Two arguments can be raised con-
cerning the validity of parental reports of
regression. The rst involves the consis-
tency with which the phenomenon is
reported across studies. Every study that
has examined the onset of symptoms of
autism reports the pattern of develop-
mental regression in at least a signicant
minority of children in the study. As
discussed below, there is considerable
consistency across studies about the pro-
portion of children involved, the types of
patterns that are described, and the age
period within which the regression oc-
curs. This consistency of report provides
an indication of the validity of the phe-
nomenon.
Second, several researchers have
recently used behavioral data derived
from improved interview methods to
validate their reports of the childrens
early behavioral development. Improved
interview methods have involved help-
ing parents establish timelines or key his-
torical events as points of recall, as well as
the development of much more detailed
behavioral questionnaires concerning
early symptoms [Goldberg and Osann,
2003; Werner et al., in press; Ozonoff et
al., in review].
Finally, several recent studies have
used parental home videos of their in-
fants early development to validate the
parental reports gained through the elab-
orated interview process. These studies,
focusing on home videos collected over
the childs infancy periods, have generally
corroborated the parental report of be-
haviors occurring both before and after
the regression [Goldberg and Osann,
2003; Werner and Munson, 2001; Mae-
stro et al., 1999]. Thus, the evidence
supports the validity of parental reports of
developmental regression as an onset pat-
tern seen in some children with autism.
NATURE OF REGRESSION IN
AUTISM
Although some characterizations of
autism in the lay literature lead to the
conclusion that loss of skills is the typical
onset pattern in autism, the research data
demonstrate that regression is character-
istic of a minority of children. Further-
more, the percentage of children for
whom regression occurs varies with the
nature of the study group. Higher per-
centage estimates come from smaller
samples, and samples drawn from clinical
referrals. In such samples, the percentage
of children demonstrating regression
140
ranges from a third [Goldberg and Os-
ann, 2003] to almost a half [Davidovitch
et al., 2000]. In samples drawn from large
population studies, however, the per-
centage is lower (e.g., 25% in a popula-
tion sample of 473 British children with
both typical and atypical autism) [Taylor
et al., 2002].
Patterns of Autism Onset
As Werner et al. [in press] have
recently pointed out, the onset of symp-
toms is a different phenomenon than de-
velopmental regression or loss of skills.
Loss of skills is just one of several types of
onset patterns. Three different onset pat-
terns have been reported in autism [Rog-
ers and DiLalla, 1990].
In the rst pattern, symptoms ap-
pear to be present from birth. Parents
report behaviors that they considered
atypical across the 1st year of life, and this
group is generally considered to be the
congenital group. A note of caution is
important in considering this group,
however. Many of the symptoms parents
report in the rst year of life are not
pathognomic for autism per se but rather
reect differences in temperament (dif-
cult or easy babies), regulatory patterns of
sleeping or eating, or motor abnormali-
ties. In fact, a recent study by Werner and
colleagues (in press) documented that
these early symptoms did not differenti-
ate children who would later be diag-
nosed with autism from those who
would later be diagnosed with other de-
velopmental problems. Thus, the mean-
ing of these early symptoms in autism
may have more to do with associated
developmental and neurological abnor-
malities than with the specic decits
associated with autism. Between 33 and
65% of children are reported to show this
pattern [Short and Schopler, 1988; Volk-
mar et al., 1985; Hoshino et al., 1987].
Though it may seem counterintuitive,
children in this group have not been
found to be more severely impaired than
children whose symptoms become rec-
ognizable somewhat later in infancy
[Tolbert et al., 2001; Werner et al., in
press].
The second pattern involves early
milestone achievement followed by a de-
velopmental plateau. Parents have re-
ported that their childrens social and
communicative development slowly
came to a halt. Thus, babbling was
present, but did not continue to develop
into speech. Similarly, social interests did
not develop into social initiations, shared
attention, and social games or imitation.
These children are not reported to have
lost any skills but rather have failed to
MRDD RESEARCH REVIEWS
develop the set of social/communicative
skills that differentiate autism from other
developmental problems in the 1st and
2nd years of life.
The third pattern is the focus of
this article: a clear developmental loss of
previously acquired skills. As indicated
above, this pattern is a well-documented
phenomenon. Parents generally report
that this regression occurs after a period
of typical development. The normalcy of
the childs preregression development,
however, has recently been the subject of
considerable research. Several authors
have developed detailed interview and
questionnaire techniques for eliciting de-
tailed information about childrens
preregression developmental repertoires.
Somewhat surprisingly, the convergence
of evidence across these studies indicates
that a very small proportion of children
with autism exhibit a period of truly typ-
ical (normal) development; only ap-
proximately 15% of children who later
lose skills appear to have had a full rep-
ertoire of expected skills in their infancy
[Kurita, 1985; Werner et al., in press],
although as many as a one-third to one-
half of children with autism show some
regression and loss of skills [Rogers and
DiLalla, 1990].
In the majority of the regressive
population, earlier delays involve subtle
social and communication symptoms.
Perhaps surprisingly, specic behaviors do
not differentiate regressive from nonr-
egressive groups, as reported by both be-
havioral studies [Rogers and DiLalla,
1990] and parent report studies [Ozonoff
et al., in review]. Ozonoff and colleagues
reported that both regressive and non-
regressive groups had high rates of social
smiles, cuddling, molding to mothers
body, and preferences for mother early
signs of social preference and attachment,
according to detailed parent question-
naires. These same authors documented
that early social symptoms in children
who later showed regression involved
not general sociability but rather the au-
tism-specic social/communicative be-
haviors that diagnose early autism: joint
attention, imitation, social games, and
pretend play.
Thus, in most cases, the regressive
pattern is best characterized as a loss of
previously acquired skills in an infant
who was already demonstrating more
subtle developmental delays of social/
communicative behaviors.
Age at Time of Regression
The timing of the regression is
somewhat difcult to characterize from
the available literature. Although some
REGRESSION IN AUTISM ROGERS
families report the regression as a sudden
and rapid event, 65% of families in one
large study reported the regression as
gradual, thus making the identication of
the age more difcult [Ozonoff et al., in
review]. For studies that examined the
timing of regression in a sample of chil-
dren with autism, the mean age of regres-
sion was between 19 and 21 months
[Goldberg and Osann, 2003; David-
ovitch et al., 2000; Tuchman and Rapin,
1997]. However, there was a consider-
able range. Within a group of 55 children
with regression, drawn from a sample of
179 children with autism [Kobayashi and
Murata, 1998], 5% had a regression that
occurred before 1 year of age; interest-
ingly, these early regressers were all
girls and may have had Rett syndrome.
Almost 50% had the regression in the
typical time period (between the rst and
second birthdays) and another one-third
showed regression starting between the
second and third birthdays. Fifteen per-
cent, all boys, had their regression after
their third birthday.
Part of the difculty in assessing
these data is that most of the articles have
begun with a sample of children who
were already diagnosed with autism. Be-
cause such a diagnosis requires that the
symptoms are present by the age of 30 or
36 months, denition of the sample re-
stricts the upper age limit of regression
onset to some point before 36 months.
With the current diagnostic conventions
surrounding autism, a regression occur-
ring at a later age is classied as childhood
disintegrative disorder (CDD) rather than
autism. However, in a very informative
study that examined the age of speech
loss in a large sample of children drawn
from neurological records [Shinnar et al.,
2001], data revealed a continuous pattern
of loss that extended to 5 years of age.
Furthermore, the data revealed that the
diagnosis of autism was involved in the
vast majority of these cases. These nd-
ings raise the question of whether the
boundary between autism and CDD is
justied, a point that is considered below.
Precipitating Events
Given the dramatic nature of the
regression, parents naturally search for a
cause for the change in their children.
Several groups have gathered parental re-
ports about events that seem to precede
the childs regression. Kurita and col-
leagues [1992] reported that 25% of par-
ents of children with autism reported
some type of precipitating event, includ-
ing physical illnesses (7%) and various
psychosocial events (e.g., birth of a sib-
ling, a parental absence, and or a trip)
MRDD RESEARCH REVIEWS REGRESSION
(18%). Recent studies report a higher
percentage of parents reporting precipi-
tating events. In the Goldberg et al.
[2003] study, approximately one-half of
44 families reported a specic precipitat-
ing event, and immunizations led the list
(52% of families). Other medical events
were reported by 33%, and a psychoso-
cial event (e.g., moving) was reported by
16%. Similar rates were reported by
Shinnar et al., [ 2001], with 44% of par-
ents reporting a psychosocial event and
over 50% reporting a biological event.
CHARACTERISTICS OF
CHILDREN WHO HAVE
EXPERIENCED REGRESSION
No relationships have thus far been
identied between autistic regression and
any characteristic family feature. Differ-
ences in socioeconomic status, ethnicity,
birth order, high-risk birth events, and
gender are not associated with regression.
There is no difference in age at diagnosis,
or in the male:female sex ratios, among
regressive and nonregressive groups.
There is also no evidence that the regres-
sive cases are less familial or more bi-
ological than the nonregressive cases.
Lainhart et al. [2002] examined the oc-
currence of the broader autism pheno-
type in families of 47 children with au-
tism to test the hypothesis that regressive
cases have a different biological basis.
The overall rate of regression was 21%,
with no association of regression with
incidence of the broader autism pheno-
type among family members (in multi-
plex families), suggesting that the genetic
loading for autism is similar in regres-
sive and nonregressive children.
In terms of relationships to other
illnesses, several very interesting case re-
ports have documented an association
between a severe central nervous system
(CNS) related illness and the develop-
ment of autism. DeLong et al. [1981]
reported a transient condition that met all
criteria for autism in three cases following
encephalitis, which resolved over time.
Gillberg [1991] reported the onset of ep-
ilepsy, dementia, and autistic syndrome
in a 31-year-old man related to severe
CNS illness involving herpes enceph-
alitis.
Behaviors Most Affected by the
Regression
Perhaps surprisingly, it is loss of
language, rather than loss of social reci-
procity, that is the most frequently re-
ported aspect of the regression by par-
ents. Importantly, this speech loss
generally occurs in children who have a
very limited verbal repertoire. Kurita
IN AUTISM ROGERS
[1985] reported that 94% of children
with autism and speech loss had only
single-word speech (and an extremely
limited vocabulary) at the time of regres-
sion. In this study, only 7% of the families
reported that the child used many sin-
gle words before the regression and only
3% of cases involved children who had
developed phrase speech. Understanding
of language was also lost in 50% of the
cases. Social symptom loss was also ex-
tensive, involving loss of eye contact in
90% of cases, as well as loss of social
interests and social and imitative games.
Finally, 10% lost motor skills and basic
adaptive skills, such as self-feeding and
toileting.
Development after the Loss
Although one might assume that
children who have had some early lan-
guage and social development will make
better developmental progress after a re-
gression than those who have never spo-
ken or had typical social relatedness, the
evidence refutes this assumption. Good
recovery after regression is apparently
rare. Children who exhibit regression de-
velop similarly to children with autism
without regression. For example, those
who lose speech remain mute [28 68%;
Kurita, 1985, 1992] or only slowly re-
gained some speech (32%).
Studies of behavioral and develop-
mental differences between regressive
and nonregressive groups are contradic-
tory. Some authors have reported that
children with regression have poorer de-
velopmental performance across time in a
variety of areas, including verbal and
nonverbal intelligence quotient (IQ),
language development, social skills, and
frequency and severity of maladaptive
behavior [Rogers and DiLalla, 1990;
Hoshino et al., 1987; Kobayashi and Mu-
rata, 1998; Short and Schopler, 1988].
Others have reported nding no differ-
ences between groups [Werner et al., in
press]. A recent study involving several
hundred cases reported somewhat better
functioning in the regressive group as
compared to the nonregressive group be-
fore the regression (as would be ex-
pected) and poorer functioning after the
regression [Luster et al., in press]; how-
ever, such differences have little effect on
long-term outcomes in adulthood,
which is often poor in both subgroups
[Kobayashi and Murata, 1998].
A similar issue has also been ad-
dressed with respect to the biological as-
sociations with regression. Several groups
have reported an association among re-
gression, EEG abnormalities, and seizures
(e.g., Tuchman and Rapin, 1997], al-
141
though there are contradictory reports as
well [Kobayashi and Murata, 1998; Nass
et al., 1998; Hoshino et al., 1987; Tuch-
man and Rapin, 1997]. There is no dif-
ference between regressive and non-
regressive autistic children in age of
mastery of motor milestones (a very gross
measure of CNS integrity). The evidence
concerning high-risk incidents in perina-
tal period is quite mixed; Lainhart and
colleagues [2002] reported more physical
anomalies and bigger head circumfer-
ences in children (as well as mothers) in
the nonregressive compared to the re-
gressive group.
The possible association between
regression and immunization has been
the subject of a variety of published stud-
ies over the past ve years. A recent study
by Taylor et al. [2002] was conducted on
over 450 children with autism and autism
spectrum disorders; these children were
diagnosed between 1979 to 1999, a 20-
year period surrounding the introduction
of the MMR vaccine in England. They
found no relationship between the pres-
ence of regression and the receipt or the
timing of the immunization nor did the
rate of regression change over this period.
This nding was also reported in two
other large studies involving both Amer-
ican and European children [Richler et
al., in press; Fombonne and Chakrabarti,
2001]. No study has yet found an empir-
ical association between the occurrence
and/or timing of a regression and the
onset of symptoms of autism (see Luster
et al., in press].
RELATIONSHIP TO OTHER
REGRESSIVE CONDITIONS IN
EARLY CHILDHOOD
There are three other conditions
that are associated with developmental
regression; in two, the pattern is very
similar to that seen in autism. The rst
condition is LandauKleffner syndrome,
which is described elsewhere in this issue
(see McVicar and Shinnar) and is dis-
cussed no further here.
The second condition is childhood
disintegrative disorder (CDD). As de-
ned in the DSM IV, CDD is differen-
tiated from autism in the late timing of
the regression and the documentation of
normal development previous to the re-
gression. The case descriptions of this
disorder report additional behavioral fea-
tures not reported in autistic regression,
specically, a phase of markedly fearful,
anxious behavior that accompanies the
regressive period and evidence of motor
involvement, including loss of motor co-
ordination, loss of physical skills like
dressing, toileting, and self-feeding, and
142
development of ataxia, drooling, and
other neurological symptoms.
Although the diagnostic systems
clearly differentiate autism from CDD,
several authors have raised questions
about this distinction [Hendry, 2000;
Malhotra and Gupta, 2002]. Kurita and
colleagues [1992] compared 196 cases of
autistic regression to 18 cases of CDD.
The only clear behavioral differences be-
tween the two groups involved increased
fearfulness and more severe intellectual
impairment in the CDD cases. There
were no group differences in IQ, severity
of autism symptoms, or the amount of
speech recovery. Sixty-six percent of the
CDD group showed evidence of earlier
developmental delays upon detailed in-
terviewing with the parents. Abnormal
EEG was reported in 61% of CDD and
28% in autism. The authors concluded
that . . . infantile autism with speech loss
is intermediary between the rest of au-
tism and disintegrative psychosis (p.
186; [Kurita et al., 1992].
Developmental regression also oc-
curs in children with visual impairment.
[Fraiberg, 1977; Cass et al., 1994; Ek et
al., 1998]. Autism occurs in total blind-
ness much more than would be expected
by chance, though it is rare in children
with visual impairment who are partially
sighted. These studies report that be-
tween 11 and 25% of totally blind chil-
dren have autism, and the association oc-
curs especially in those whose blindness is
related to CNS rather than peripheral
causes. Autism appears to be especially
prevalent in retinopathy of prematurity
and Lebers syndrome [Ek et al., 1998;
Rogers and Newhart-Larsen, 1989].
The phenomenology of the regres-
sion in blind children is quite similar to
that seen in autism. Loss of language and
previous sociability are the most striking
features. The age of regression is typically
between 16 and 27 months. Similar to
autism, 60% of parents report some asso-
ciation with adverse factors, mostly psy-
chosocial but also physical illnesses.
Long-term development is affected, es-
pecially language and symptoms of au-
tism. These studies suggest that the
mechanism responsible for the regression
most likely involves the interaction of
CNS abnormalities with a precipitating
stressor. The regressive course, therefore,
is remarkably similar across autism,
CDD, and blindness, and results in a
long-term picture that is remarkably
similar.
Summary
The occurrence of developmental
regression in autism is one of the more
MRDD RESEARCH REVIEWS
puzzling features of this disorder. Al-
though several studies have documented
the validity of parental reports of regres-
sion using home videos, recent data sug-
gest that most children who demonstrate
regression also demonstrated previous, sub-
tle, developmental differences. Counter to
clinical intuition, the earlier development
of social, language, and attachment behav-
iors does not provide a protective factor in
children with regression, nor does it seem
to support their recovery. In fact, this
group may have somewhat greater devel-
opmental impairment than the nonregres-
sive group, though they do not appear to
present an altered behavioral phenotype.
Although autism is not the only condition
in which regression occurs, it appears to be
the most frequent condition. Other disor-
ders that demonstrate an early regression
with no known etiology include total
blindness from birth and childhood disin-
tegrative disorder, both of which demon-
strate behavioral relations to autism.
Although we do not yet under-
stand the biology of regression in autism,
we have much information about the
phenomenology. This experience is ter-
ribly painful for parents, who search for
explanations and experience considerable
self-blame. These parents need great sup-
port, reassurance, and information from
professionals to assist them in nding ser-
vices for their children as well as assis-
tance in understanding the available asso-
ciations or lack of associations
between autistic regression and known
etiological factors associated with this
phenomenon. f
ACKNOWLEDGMENT
Dr. Rogers is partially supported
by the following grants: U19 HD35468
07, the Collaborative Programs of Excel-
lence in Autism (CPEA) from the Na-
tional Institute of Child Health and
Human Development, R21 DC0557403
from the National Institute of Deafness and
Communication Disorders, and R13
MH7077201, R21 MH0673631, R01
MH0683981, and RO1 MH06823201
from the National Institute of Mental Health.
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