Download Screening for autism in young children

MENTAL RETARDATION AND DEVELOPMENTAL DISABILITIES
RESEARCH REVIEWS 11: 253–262 (2005)
SCREENING FOR AUTISM IN YOUNG CHILDREN:
THE MODIFIED CHECKLIST FOR AUTISM IN
TODDLERS (M-CHAT) AND OTHER MEASURES
Thyde Dumont-Mathieu1,2* and Deborah Fein2
1
Department of Pediatrics, University of Connecticut School of Medicine, Farmington, Connecticut
2
Department of Psychology, University of Connecticut, Storrs, Connecticut
The literature on the importance of early identification and early
intervention for children with developmental disabilities such as autism
continues to grow. The increased prevalence of autistic spectrum disorders
has fostered research efforts on the development and validation of autismspecific screening instruments for use with young children. There are currently several such autism-specific screening tools meant to be used with
young children in various stages of development. Data from a few of these
screening instruments have been published, and they include the Checklist
for Autism in Toddlers (CHAT), Pervasive Developmental Disorders Screening Test (PDDST), Screening Tool for Autism in Two year olds (STAT), Checklist for Autism in Toddlers-23 (CHAT-23), and the Modified Checklist for
Autism in Toddlers (M-CHAT). In this review, these five tools designed for
use with children under three years old will be highlighted. In particular, the
Modified Checklist for Autism in Toddlers (M-CHAT) will be discussed.
©
2005 Wiley-Liss, Inc.
MRDD Research Reviews 2005;11:253–262.
Key Words: autism; pediatric screening; early identification; early intervention
BACKGROUND
utism is a neuro-developmental disorder first described
by Leo Kanner in 1943. It is one of a group of disorders
known as Pervasive Developmental Disorders (PDDs),
now more commonly referred to as Autistic Spectrum Disorders
(ASDs). This group of disorders includes Autistic Disorder,
Pervasive Developmental Disorder-Not Otherwise Specified
(PDD-NOS), Asperger’s syndrome, Rett syndrome, and Childhood Disintegrative Disorder (CDD) (American Psychiatric Association (APA), 1994). Autistic Spectrum Disorders are currently estimated to affect somewhere between 1 in 166 and 1 in
1000 children [Baird et al., 2000; Bertrand et al., 2001;
Chakrabarti and Fombonne, 2001; Yeargin-Alsopp et al., 2003
Volkmar et al., 2004; Barbaresi et al., 2005; Chakrabarti and
Fombonne, 2005].
The diagnostic criteria for autistic disorder require impairment in three areas: reciprocal social interaction, communication, and specific patterns of behavior, interests, and activities
[APA, 1994]. Research has documented areas of dysfunction
related to these core categories of symptoms in autism: (1) social
abilities (attachment, joint attention, social imitation, orienting
to social stimuli, face and affect processing, expression of emotion, and symbolic play) [McEvoy et al., 1993; Dawson et al.,
A
© 2005 Wiley-Liss, Inc.
1998; Klin et al., 2002; Klinger et al., 2003]; (2) communicative
abilities (use of language, both verbal and non-verbal, quality of
communication and play) [Travis et al., 2001; Klinger et al.,
2003; Dawson et al., 2004] and (3) restricted or stereotyped
behaviors; interests, and activities (non-functional routines or
ritualistic behaviors, resistance to changes in the environment,
repetitive motor mannerisms, unusual interests and preoccupations; and visual fascinations) [Volkmar et al., 1986; Szatmari et
al., 1989; Campbell et al., 1990; Turner, 1999; Charman and
Swettenham, 2001; Klinger et al., 2003]. There are additional
symptoms that are sometimes present with ASDs, these include
self injurious behaviors, functional disturbances such as difficulties with sleeping and eating, abnormal fears, and abnormal
responses to sensory stimuli [Klinger et al., 2003]. Cognitive
functioning can range from severe mental retardation to above
average intelligence quotient (IQ), with many children who
have an ASD showing some degree of cognitive impairment. A
recent study by Chakrabarti and Fombonne [2005] found that in
a sample of four to six year olds diagnosed with an ASD, nearly
a third had significant cognitive impairment.
Previous studies have found that regression in ASD occurs
most often between 18 and 24 months of age, with the frequency of the regressive type of autism being somewhere between 10 and 50% [Tuchman and Rapin, 1997; Goldberg et al.,
2003; Lord et al., 2004; Rogers, 2004]. Clinical experience of
the present authors suggests that regression often occurs sooner,
sometimes as early as 12–18 months. It is possible that parents
may recall 18 –24 months as the age of regression for children
who were diagnosed later, or that parents are experiencing recall
bias [Siperstein and Volkmar, 2004]. It is possible that as the age
at diagnosis drops with earlier identification, so will the reported
age at regression.
Contract grant sponsor: National Institute of Child Health and Development
(NICHD); Contract grant number: 5-R01 HD39961.
*Correspondence to: Thyde Dumont-Mathieu, M.D., M.P.H., Department of Psychology, University of Connecticut, 406 Babbidge Rd., Storrs, CT 06269-1020.
E-mail: [email protected]
Received 11 July 2005; Accepted 12 July 2005
Published online in Wiley InterScience (www.interscience.wiley.com).
DOI: 10.1002/mrdd.20072
There are many important theoretical and clinical issues related to the subject of regression in autistic spectrum disorders. Do parents and providers mean
the same thing when they discuss regression? What constitutes regression as opposed to developmental stagnation? Is the
regression seen with autism similar
mechanistically to that seen in other regressive disorders such as Landau-Kleffner syndrome [Ballaban-Gil and Tuchman, 2000; Robinson et al., 2001;
Stefanatos et al., 2002 Trevathan, 2004],
or to disorders within the autistic spectrum, Childhood Disintegrative Disorder
[Volkmar and Rutter, 1995; Malhotra
and Gupta, 1999 Goldberg et al., 2003;
Manning-Courtney et al., 2003], and
Rett syndrome [Glaze, 2004]? Is the outcome different for those children who
have had a normal developmental trajectory prior to the onset of regression, as
compared with those whose regression is
limited only to language or those who
were developmentally delayed even before the regression? Does the timing of
the regression impact outcome? Does autism with regression differ in etiology,
impact, and prognosis than autism without regression?
Various mechanisms of regression
have been suggested, including illness,
sub-clinical seizures, and variations in
postnatal brain development due either
to the impact of genetic factors or postnatal events [Lainhart et al., 2002;
Hrdlicka et al., 2004]. A discussion of
these questions and issues is beyond the
scope of this article and the readers are
referred to a review of developmental
regression published in this journal
[Rogers, 2004]. However, there are two
issues pertinent to this discussion of
screening young children. Screening
tools need to ask about regression in a
way that is compatible with parent and
provider perspectives. It is also important
to not only ask about regression, but lack
of developmental progression. Secondly,
it is important to remember that autism
screening will not capture regression if
the screening precedes the regression.
Retrospective studies have shown
that children who are later diagnosed
with autism exhibit symptoms as early as
8 –12 months of age [Osterling and Dawson, 1994 Baranek, 1999; Werner et al.,
2000; Osterling et al., 2002]. In general
these studies reviewed videotapes of the
children prior to or at their first birthday
and analyzed their behaviors, as compared with typically developing children
or children with non-ASD diagnoses.
Some children with ASDs seem to exhibit symptoms as early as 8 months, but
254 MRDD RESEARCH REVIEWS
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more consistently around 12 months.
The identified symptoms are fairly consistent and include delay or absence in
pointing, showing objects, looking at
others, and orienting to their name [Osterling and Dawson, 1994]. In addition
to the difficulties with aspects of social
responsiveness (poor visual orientation/
attention, response to name) these children also seem to exhibit sensory-motor
difficulties (mouthing objects excessively,
aversions to social touch) [Baranek,
1999]. Other symptoms that seem to indicate possible ASD include stereotyped
play with objects, unusual posturing of
body parts, looking at a camera less frequently, staring/fixating on objects, and
having less animated affective expressions
[Baranek, 1999]. Lack of response to
name seems to be the most consistent
singular symptom at this young age [Osterling and Dawson, 1994; Baranek,
1999; Werner et al., 2000 Osterling et
al., 2002].
The findings from these studies, although retrospective, document some of
the behavioral signs of autism in very
young children, and suggest that early
screening might be feasible. Ongoing research is needed to uncover profiles of
children with ASDs at young ages, since
the signs may be different from those
seen in older children. Prospective studies are needed with infants and toddlers
to further investigate the best means of
differentiating between variants of typical
development and the earliest symptoms
of autism. In the meantime, it would
seem prudent to verify that children under 12 months old being seen for their
well child care visit are looking at others
and orienting to their name, since these
two skills may be two of the earliest red
flags for possible autism. Baranek [1999]
states that the early markers for autism
noted on videotape review preceded the
voicing of concerns by parents. She also
mentions that the parents in her study
compensated for these markers, suggesting that these compensatory behaviors on
the parents’ part may somehow be reflective of the child’s symptoms and a possible avenue for developing measures to
help with the early identification of these
children.
Despite this delay in parents’ concerns relative to the early markers identified retrospectively, studies suggest that
parental concerns regarding their child’s
development were typically expressed to
pediatricians by the age of 1.5 years, and
yet, a definitive diagnosis of autism is not
made until approximately 4 years old.
[De Giacomo and Fombonne, 1998; Siegel et al., 1988; Flannagan and Nuallain,
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2001]. Simultaneously, the evidence suggesting that young children as young as
24 months old can be diagnosed with
autism continues to grow [Dahlgren and
Gillberg, 1989; Lord, 1995; Stone et al.,
1999; Chakrabati and Fombonne, 2001;
Zwaigenbaum, 2001; Charman and
Baird, 2002; Dawson et al., 2002]. Furthermore; the neurobiological abnormalities noted in the child with ASD in the
first two years of life [Courchesne et al.,
2004] support the idea that as early as 1
year of age, children with autism may
show signs of developing quite differently from their typically developing
peers.
Although discussions continue as
to whether and why autism seems to be
on the upswing, awareness has certainly
increased [Fombonne, 2003]. Several
studies have demonstrated that early detection and early intervention do have a
positive impact on outcomes for children
with autistic spectrum disorders [Hoyson
et al., 1984; Lovaas, 1987; Rogers and
Lewis, 1989; Harris et al., 1991; Birnbrauer and Leach, 1993; McEachin et al.,
1993; Lord, 1995; Dawson and Osterling, 1997; Smith et al., 1997; Jocelyn et
al., 1998; Sheinkopf and Siegel, 1998;
Smith and Lovaas, 1998; Harris and
Handleman, 2000; Sonnander, 2000]. In
fact research suggests that intervention
before three or three and a half years of
age has the greatest impact. [Harris and
Handleman, 2000; Woods and Wetherby, 2003]. The findings that early identification and intervention lead to improved outcome suggest that autism is an
appropriate disorder for which screening
should be undertaken. This realization
has prompted a focus on the development of autism-specific screening tools
appropriate for use with young children.
Several issues regarding the screening for autism in young children need
further clarification. What type of
screening is best: should the screening be
broad-based developmental screening, or
autism-specific? What is the best age at
which to screen? What is the best
method for screening: should parent report be used, or is direct observation a
better approach?
WHAT TYPE OF SCREENING
IS BEST?
Since research suggests that the first
indication of a problem in children who
are subsequently diagnosed with an ASD
may occur as early as the first year of life
[Osterling and Dawson, 1994; Baranek,
1999; Werner et al., 2000; Osterling et
al., 2002] and that in the U.S., early
intervention is not only an accepted but
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DUMONT-MATHIEU & FEIN
mandated means of addressing the needs
identified for children from birth to the
age of three, screening all children once
or twice during that timeframe would
facilitate the timely identification of children who need early intervention and/or
monitoring.
There are generally two models
used to screen for autism. The first model
is consistent with practice parameters endorsed by the American Academy of Pediatrics (AAP), as well as the American
Academy of Neurology (AAN) [Filipek
et al., 1999; Filipek et al., 2000AAP,
2001a, 2001b, 2001c]. It consists of ongoing developmental surveillance of children within the primary care setting. In
Dworkin [1993], developmental surveillance is defined as:
“a flexible, continuous process whereby knowledgeable professionals perform skilled observations
of children during the provision of health care. The
components of developmental surveillance include
eliciting and attending to parental concerns, obtaining a relevant developmental history, making accurate and informative observations of children, and
sharing opinions and concerns with other relevant
professionals (p. 533).”
It is suggested that standardized
general developmental screening tools be
used as part of the developmental surveillance process. These tools can either be a
parent-completed questionnaire or clinician-completed measure. If general
screening raises concerns suggestive of
possible autistic spectrum disorders, autism-specific screening could then be administered. The challenge of providerimplemented screening was highlighted
by a recent study, which found that half
of the surveyed physicians used a formal
screening tool (Sices et al., 2003). However, a primary benefit of using this
model to screen for autism is that it incorporates autism screening into an already accepted practice within the field
of pediatrics. As such, autism-specific
screening is less likely to represent an
additional item to be included in the
already overburdened well child care
(WCC) visit. Another benefit is that it
allows the screening to be undertaken
within the context of the child’s “medical home.”
The term “medical home” was first
used in 1967 [Sia et al., 2004]. The
American Academy of Pediatrics (AAP)
in a policy statement provided 7 dimensions (accessible, continuous, comprehensive, family-centered, compassionate,
culturally effective, and coordinated with
specialized services provided outside of
the primary care setting) that should be
found within a medical home [AAP,
2002; Bethell et al., 2004]. As a result of
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SCREENING
this type of care, the child is viewed as
the multi-faceted being that he or she is.
The fact that any identified concerns will
be raised by a provider with whom the
family and child already have a relationship may lend additional credibility to the
screening process and findings. There
are, however, potential limitations with
this model. It depends on the primary
care provider performing developmental
surveillance/screening, recognizing the
red flags for autism, and pursuing the
appropriate next steps in a timely manner. This possibility is especially problematic as the frequency of well-child
care visits begins to decrease in the toddler years. Also, a potential challenge
with this approach is the limited amount
of time available to most providers for
accomplishing a growing number of tasks
during the WCC visit. Perhaps due in
part to this, in some instances, the dimensions of the medical home are not
fully implemented [Strickland et al.,
2004].
Although there are currently no
validated autism-specific screening instruments designed for children less than
18 months old, several groups are working to better understand how autism presents in that age group in a prospective
manner. Zwaigenbaum et al. [2005] recently published data from their ongoing
prospective study with siblings of children diagnosed with an ASD. They have
designed an observational scale for assessing autism-specific behavior in children.
This is a promising line of research whose
findings may lead to validated measures
for screening and diagnosing children less
than 18 months of age, or even less than
12 months of age. At the present time,
providers should use validated general
developmental
surveillance/screening
with their patients under 18 months old.
The second model consists of the
routine administration of autism-specific
screens at multiple high-risk ages (e.g., 18
and 24 months of age) by primary care
providers, regardless of the presence of
symptoms or concerns suggestive of an
ASD. This would be done in addition to
developmental surveillance, including
the use of general developmental screening. The primary benefit of screening at
several ages is that the likelihood of not
recognizing a child with possible ASD is
diminished. There are three main limitations to this approach. First, it would
require already busy primary care providers to remember to administer an autismspecific screening instrument to all children, even those who they feel are
developing appropriately. Providers may
hesitate to raise the possibility of a disorFOR
AUTISM: THE M-CHAT
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der such as autism with every parent they
encounter at a preset interval due to concerns that the mere administration of
these screens will be anxiety provoking
for some parents. Secondly, the question
arises as to which instrument primary
care providers should use. Screening instruments for children younger than
16 –18 months have not yet been validated, although multiple research groups
are working to identify reliable signs in
infancy. Multiple versions of a screener
would be needed for children of different
ages. Lastly, as the number of screening
instruments for different conditions increase, primary care providers may be
unable to fit them all into the limited
time available for the well-child care
visit.
Research suggests that the age at
diagnosis seems to be influenced by socioeconomic status and/or race/ethnicity
[Mandell et al., 2002]. Furthermore,
missed and misdiagnosed ASDs seem to
be more prevalent in certain populations
[Mandell et al., 2002; Dyches et al.,
2004; Pinto-Martin and Levy, 2004].
The cause for this is not yet known, but
may be linked to several factors related to
racial and ethnic disparities in the quality
of health care [Smedley et al., 2003],
including screening and referral practices.
There is also the possibility that the
symptoms of autism may differ across
populations, not only in terms of which
symptoms are present and the timing of
presentation, but also which symptoms
concern parents, and whether they share
these concerns with pediatric providers.
Providers need to ensure that all children
in their care are being screened. Towards
that end, whichever model is used to
screen for autism should include predetermined steps. Empirical data is needed
to determine which model is most effective. It is possible that different models
will work best in different patient and
provider populations, and at different
points in development.
WHAT IS THE BEST AGE TO
SCREEN?
There are both advantages and disadvantages to early screening. On one
hand, earlier screening may yield a diagnosis and subsequent intervention at an
earlier age, allowing the maximum time
for intervention. On the other hand, autism-specific screening at less than 16 –18
months old has not yet been validated.
Additionally, children who regress or
those with Asperger’s syndrome and high
functioning autism may be missed by
early screening, as they often present
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DUMONT-MATHIEU & FEIN 255
later. Furthermore, health care providers
may be reluctant to screen for autism at
younger ages because of concerns that
such screening will lead to parental anxiety. Perhaps contrary to this idea is the
finding that significant numbers of parents have concerns about how their
young child is developing, but if they are
not asked, they may not share these concerns with their child’s primary care provider [Young et al., 1998; King and Glascoe, 2003; Bethell et al., 2004]. A core
principle embedded in the concepts of
developmental surveillance, the medical
home, and early identification is eliciting
and responding to parental concerns.
Studies have demonstrated the importance of parental report in the early detection of developmental problems
[Stone and Lemanek, 1990; Stone et al.,
1994; Glascoe and Dworkin, 1995;
Young et al., 2003]. It is important that
providers respond to parental concerns
and yet, a recent study found that expression of parental concerns did not lead to
increased likelihood of the child being
referred for the purpose of diagnosis or
service provision [Sices et al., 2004].
Screening at later ages, such as
screening after 18 –24 months, may lead
to missed opportunities for early intervention. However, this later screening
will likely have better specificity and sensitivity. In addition, it may capture the
children who develop autistic features at
later ages, those who regress, or are
higher functioning. Also, health care
providers may feel more comfortable
with the idea of screening older children.
Another challenge to early diagnosis is
the possibility that the provider may be
concerned when the parents are not.
Since participation in early intervention
is voluntary, unless the parents agree to
receive the services, the child will not
have the opportunity to receive them.
Some parents may even refuse to allow
their child to undergo the evaluative process. In such instances, repeated screenings may increase the likelihood that the
parents will be convinced that the concerns being identified are worth further
investigation, and screening at an older
age may be less likely to encounter parental denial of concern.
In deciding on what age is most
appropriate for autism-specific screening,
it is important to remember that different
items may be needed for screening at
different ages. For example, some studies
suggest that toddlers diagnosed with autism and those with developmental delays
both have impaired pretend play [BaronCohen et al., 1996; Charman et al., 1998;
Cox et al., 1999]. Yet, when preschool
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aged children with autism are compared
with those with developmental delays,
children diagnosed with autism are found
to exhibit less pretend play skills than
those with developmental disabilities
[Lord et al., 1994; Cox et al., 1999; Noterdaeme et al., 2000].
To further complicate the issue,
many typically developing young toddlers may show behaviors consistent with
those seen in ASD, such as repetitive
behaviors (e.g., opening and closing
drawers and doors, turning lights on and
off), repetitive motor behaviors such as
hand flapping when excited, and insistence on routines (and indeed a certain
sense of consistency and routine is crucial
to minimizing frustration in that age
group).
WHAT IS THE BEST METHOD
FOR SCREENING?
Several factors must be considered
in contemplating the best approach to
autism screening. These include the
availability, cost, ease of administration of
instruments with acceptable sensitivity/
specificity, timing of well-child care visits
for children, the amount of time available
for these visits, the general approach to
developmental screening and use of nonphysician personnel (e.g., nurse practitioners, physical assistants, home visitors),
cost-effectiveness, reimbursement, and
the cultural expectations of the population served regarding screening and diagnosis both in terms of the process and the
content.
Two methods often used in developmental screening are parent reports
and observations by trained clinicians;
each has advantages and drawbacks. Parental report is encouraged by many primarily because parents know their children best. They spend the most time
with them in a variety of settings. This,
therefore, provides them with many opportunities to observe the child across
multiple settings, interacting with various
individuals while they are in a variety of
moods. This method, then, does not rely
on a brief and what may be atypical sample of behaviors, and allows for observation of behaviors that may not be observable in most primary care offices, such as
interest in peers.
Well-developed parent checklists
are easy to administer, and in the short
term may be the most cost effective option available to primary pediatric providers. Developmental surveillance,
which includes clinical judgment, is
aided by the systematic elicitation of parental concerns across developmental domains, using validated parent question-
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naires.[Glascoe et al., 1989; Glascoe,
1994; Glascoe and Dworkin, 1995; Glascoe and Sandler, 1995; Glascoe, 1997].
Finally, parental concerns regarding the
emotional, behavioral, cognitive, fine
motor, and language development of
their children are predictive of the existence of a true problem [Glascoe and
Dworkin, 1995].
Efforts to increase public awareness
of developmental disorders such as autism
include the Centers for Disease Control
and Prevention (CDC)’s Learn the Signs
campaign (www.cdc.gov/actearly; 1– 800CDC-INFO), as well as a comprehensive
parent-developed site (www.firstsigns.org).
These campaigns are aimed at educating
parents about child development and the
warning signs of developmental disorders
such as autism. As part of the campaign,
both the CDC and First Signs have developed kits with information about screening
and early development for pediatric providers. It is always possible that parents of
typically developing children may unnecessarily become concerned as a result of
public awareness campaigns such as Learn
the Signs. In such instances, reassurance and
parent education may be all that is required.
More research is needed to ascertain
whether the nature of the concerns raised
by parents of children found to have developmental disorders differ from those
raised by the parents of typically developing
children.
The advantages of professional observation include knowledge of the full
range of what constitutes typical development. Clinicians are more objective
than parents and may be less likely to
over- or under-estimate a given child’s
skills or problem behaviors. The significance of a given behavior may not be as
clear to a parent as it might be to a trained
observer. Finally, in many instances, the
setting used for undertaking the observations can be standardized.
GENERAL DEVELOPMENTAL
SCREENING TOOLS
There are many broad developmental screening tools that may have a
role in the early identification process.
Discussion of these many tools is beyond
the scope of this article, and the reader is
referred to a recent review article on the
subject [Glascoe, 2000]. This review focuses briefly on two of the tools widely
used by pediatric providers and one that
focuses on communication and symbolic
behavior. The three measures are the
Parents’ Evaluation of Developmental
Status (PEDS), the Ages and Stages
Questionnaire (ASQ), and the Communication and Symbolic Behavior Scales
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DUMONT-MATHIEU & FEIN
Developmental Profile (CSBS DP). As
screens of general development some of
these tools may not target the core signs
and symptoms of autism, for example,
the PEDS does not include questions
about play and imitation.
The PEDS is a ten item instrument
designed to be self-administered by parents of children from birth to 8 years of
age, and elicits parent concern in developmental domains such as fine and gross
motor skills, receptive and expressive language, and self-help skills. The type of
parental concerns leads to categorization
of risk for developmental difficulties:
high, moderate, and low with corresponding responses such as refer, reassure,
and offer developmental promotion and
parent education. The PEDS has been
standardized and validated and meets the
recommended psychometric properties
for a screening instrument (sensitivity and
specificity greater than 0.70) [Glascoe,
2001; Glascoe, 2003; www.pedstest.
com].
The Ages and Stages Questionnaire (ASQ) is developed for use with
children 4 – 60 months old, parents are
asked to respond to descriptions of a list
of skills with the response options: not
yet, sometimes, or yes [Bricker and
Squires, 1999]. Each form is intended for
use with a certain age group (e.g., 4 years
old) and consists of thirty developmental
items divided into five areas: communication, gross motor, fine motor, problem
solving, and personal-social. There is also
a section for general parental concerns.
Many of the items are accompanied by
illustrations, and the reading level is sixth
grade or below. The items were selected
based on the likelihood of being observed or elicited by parents in the home
setting. The ASQ reportedly has a range
of classification agreement from 76 to
91% [Bricker and Squires, 1999], with
developmental assessment tools such as
the Bayley Scales of Infant Development
[Bayley, 1993].
The Communication and Symbolic Behavior Scales Developmental
Profile (CSBS DP, Wetherby and Prizant, 2002] includes three measures: the
Infant-Toddler checklist, an expanded
Caregiver Questionnaire, and a Behavior
Sample. The CSBS DP is based on a tool
previously designed by the same authors
the CSBS [Wetherby and Prizant, 1993].
The CSBS DP is a screening and evaluation instrument designed to measure the
communicative and symbolic abilities of
children aged 12–24 months. The measured skills form three composites: social
(emotion, eye gaze, and communication), speech (sounds and words), and
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SCREENING
symbolic (understanding and object use)
[Wetherby et al., 2004]. The 24 item
Infant-Toddler checklist asks about developmental milestones (e.g., when you
look at and point to a toy across the
room; does your child look at it?; does
your child point to objects?). Nineteen of
the twenty four items have the answer
choices: not yet, sometimes, and often,
the remaining five are ‘how many’ questions. At the bottom of the form parents
are also asked a yes/no question: do you
have any concerns about your child’s development? They are asked to describe
any existing concerns they may have. It is
designed to be completed by the parent
or caregiver. The Behavior Sample is a
videotaped evaluation of the child during
an interaction with his/her parent and
the clinician. Wetherby et al., [2004]
propose the use of the Infant-Toddler
Checklist as a first level screen, with the
Behavior Sample serving as a second level
evaluation tool. The tool was not designed to be an autism-specific screening
tool, but rather a tool to screen for delays
in communication, including prelinguistic skills; as such, it may be sensitive to a
range of social communicative delays, including autistic spectrum disorder.
The PEDS, ASQ, and CSBS DP
are not designed to selectively screen for
autism, but they may be effective in detecting children whose developmental
problems are consistent with autism.
Screening a large sample of children from
an unselected population will be needed
to demonstrate their usefulness as primary screens for children with autism.
SCREENING TOOLS FOR
AUTISTIC SPECTRUM
DISORDERS (ASD)
There are several autism-specific
tools currently under development, or
revision, and as such it would be premature to recommend one. Many of these
promising tools still need to undertake
continued follow up of the original samples used in their development, as well as
cross-validation with new samples.
In addition to the Modified
Checklist for Autism in Toddlers (MCHAT), which will be discussed in more
detail later, four other autism-specific
screening tools are the Checklist for Autism in Toddlers (CHAT), Pervasive Developmental Disorders Screening Test-II
(PDDST-II), Screening Tool for Autism
in Two year olds (STAT), and Checklist
for Autism in Toddlers-23 (CHAT-23).
CHAT
The CHAT is a screening tool intended for use in the general population
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AUTISM: THE M-CHAT
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at 18 months of age. It consists of nine
parent report items (A1–9) and five observation items (Bi-v) [Baron-Cohen et
al., 2000; 1996; 1992]. When looked at
together five of the fourteen items have
been found to be key indicators of possible autism based on the Diagnostic and
Statistical Manual (DSM) criteria for autistic disorder: gaze monitoring (Bii);
proto-declarative pointing (pointing to
indicate interest rather than to request)
(A7 ⫹ Biv), and pretend play (A5 ⫹
Biii). Baron-Cohen et al., [1996] found
that if at 18 months the items gaze monitoring, proto-declarative pointing, and
pretend play were failed, there was an
83.3% risk of being subsequently diagnosed with autism via a diagnostic evaluation. A follow up study [Baird et al.,
2000] with 16,235 eighteen month old
children using the CHAT found, however, that although the specificity of the
CHAT was excellent, the sensitivity
(20 –38% depending on criteria used) was
unacceptably low. This suggests that the
CHAT may not be an appropriate tool to
use as an exclusive screening tool for
identifying children who may have an
ASD, and is currently under revision by
the authors.
PDDST-II
PDD ST-II [Siegel, 2004] consists
of 3 stages designed to be used in three
different clinical settings. The PDDST
Stage 1 consists of 22 items with the
response choices ‘yes, usually true’ or
‘no, usually not true.’ Its intended use is
in the primary care setting with 12– 48
month olds. A positive screen signals the
need for further evaluation and is defined
as 5 or more items being answered ‘yes,
usually true.’ The author reports a sensitivity of 0.92 and 0.91 based on a sample
of 681 children ‘at risk for ASD’ and 256
children with ‘mild-to-moderate other
developmental disorders’.
The other two stages of the
PDDST are intended to be used in settings other than the primary care provider’s office. Stage 2 is a 14-item screening
tool for use in developmental clinics. The
cut-off is still 5 items with a reported
sensitivity and specificity of 0.73 and 0.49
based on 490 children with confirmed
ASD (Autism, PDD-NOS, or Asperger’s
syndrome) and 194 children who were
evaluated for an ASD, but who did not
receive a diagnosis on the autistic spectrum [Siegel, 2004]. Stage 3 is a 12 item
screening tool designed to be administered in autism clinics with a cut-off
score of 8. The reported sensitivity and
specificity is 0.58 and 0.60, respectively
[Siegel, 2004]. The sensitivity and spec-
OTHER MEASURES
●
DUMONT-MATHIEU & FEIN 257
ificity reported for stage 1 are good.
Those for stage 2 and 3 are not as good,
particularly, the specificity for stage 2.
The major statistical shortcoming of this
instrument is that no sensitivity/specificity data are reported for large-scale
screening of an unselected sample.
with autism and those without for mental
ages and assess the sensitivity and specificity of the STAT in that instance. Nevertheless, the STAT is a promising Level
2 screening tool for autism in children
between two and three years old.
STAT
The STAT [Stone et al., 2000;
Stone et al., 2004] is designed as a second
level screening tool for autism. It is intended to be used by professionals in
communities to identify children with
possible autism, as opposed to other developmental disabilities. The items are
administered within a twenty-minute
long play-based interactive session. The
ten scored items include play (2), imitation (4), directing attention (4), and do
not require language comprehension.
Two additional requesting items are included as a means of promoting interaction between the evaluator and child.
Two samples were used to assess the validity of the STAT as a second level
screening instrument. The sample used in
the development phase consisted of 40
children (3 with autism, 33 without), the
sample used for validation had 33 children (12 with autism, 21 without autism). The children in the two samples
ranged in age from 24 to 35 months old.
The children with autism had lower developmental ages than the children without autism. Data from a subsample of
children with (12) and without (12) autism matched for developmental age was
also analyzed. The two examiners administering the STAT were blind to the referral questions and the results of the diagnostic assessments. The parents of the
participating children were blind to the
results of the diagnostic evaluation until
after the STAT screening was completed.
The diagnoses were made based on
DSM-IV criteria (APA, 1994) and the
Childhood Autism Rating Scale (CARS;
Schopler et al., 1988]. The sensitivity and
specificity of the subsample matched for
DA were each 0.83. The sensitivity and
specificity for the validation sample were
0.83 and 0.86, respectively.
The authors of the STAT highlight
three areas needing additional research.
Firstly, replication studies with larger
samples from many different settings are
needed before the findings can be generalized. Secondly, future studies need to
use standardized measures such as the
Autism Diagnostic Observation Schedule
–Generic (ADOS-G) [Lord et al., 1999],
in addition to clinical judgment. Finally,
follow up studies with larger sample sizes
need to match those children diagnosed
The M-CHAT
The M-CHAT [Robins et al.,
2001] is a 23-item (yes/no) parent report
checklist developed to screen children
aged 16 –30 months. As suggested by the
name; the M-CHAT is a modification of
CHAT [Baron-Cohen et al., 1992], described above. The M-CHAT expands
upon the parent report portion of the
CHAT, and seeks to identify children
with a possible autistic spectrum disorder,
including PDD-NOS, and not just
strictly defined Autistic Disorder.
The initial population screened by
the M-CHAT consisted of 1,293 children aged 16 –30 months [Robins et al.,
2001]. Of the 1293 children screened 58
were evaluated and 39 were diagnosed
with an autistic spectrum disorder. None
of the children evaluated at that time
were found to be typically developing.
Although absolute sensitivity and specificity are pending completion of follow
up of the initial sample, based on the
discriminant function analysis (DFA)
classification at the time of first screening
and evaluation, the M-CHAT has a sensitivity of 0.87, specificity of 0.99, positive predictive power of 0.80, and negative predictive power of 0.99 [Robins et
al., 2001].
Excluded from the ongoing validation study are children who already have
an ASD diagnosis prior to completion of
the M-CHAT, and children younger
than 16 months or older than 30 months
at the time of M-CHAT completion.
The sample is drawn from primary care
practices, as well as early intervention
sites. Children who fail the M-CHAT
receive a confirmatory follow up telephone call at which time the completed
M-CHAT is reviewed to clarify the selected answers and ascertain whether the
child has in fact screened positive on the
checklist. The completed forms are
scored and the child is considered to have
failed the initial screening if he/she fails
any three of the twenty three items or
two of the six critical items. The critical
items on the M-CHAT are as follows:
item 2 (interest in other children), item 7
(proto-declarative pointing), item 9
(bringing objects to show the parent),
item 13 (imitating), item 14 (responding
to name), and item 15 (following a
point).
258 MRDD RESEARCH REVIEWS
●
SCREENING
FOR
AUTISM: THE M-CHAT
AND
Those who fail in both the initial
screening and the telephone follow up
are evaluated by a team of evaluators,
using the Autism Diagnostic InterviewRevised (ADI-R) [Lord et al., 1994];
ADOS-G [Lord et al., 2000; 1999];
CARS [Schopler et al., 1988]; Mullen
Scales of Early Learning [Mullen, 1995];
Vineland Adaptive Behavior Scales
[Sparrow et al., 1984], and the DSM-IV
criteria [APA, 1994]. The ADOS is a
semistructured instrument, which allows
assessment of a child’s communication
and social interactions. The ADI is a parent report measure with questions on the
child’s communication, social relatedness, including play and interests and behaviors. The ADI and ADOS are currently considered the gold standard for
diagnosing autism.
The number screened at Time 1
(completed form between 16 and 30
months old) has been increased to 4,200
children. 236 children who failed the initial screening have been evaluated at a
mean age of 27.63 months: 165 were
found to have an ASD, 67 have been
diagnosed with a non-ASD developmental disorder, and 4 have been assessed as
typically developing. To date 1,937 children evaluated at Time 1 have reached
eligibility for rescreening at age 4. Data
has been collected from 940 (mean age ⫽
55.35 months). At rescreening, parents
are asked to complete the M-CHAT, and
are also asked whether in the interim the
child has been referred for or diagnosed
with an ASD. Six children have been
identified as possible misses (failed the
rescreening or referred for possible ASD):
2 of the 6 have been confirmed as misses,
two are not misses, and two are classified
as possible misses because they have not
been able to be evaluated. Sixty three
children evaluated at Time 1 have been
reevaluated at Time 2. At Time 2, 38 of
the 63 children have been diagnosed
with an ASD, 17 have been diagnosed
with a non-ASD developmental disorder, and 8 have been assessed as typically
developing. Based on the M-CHAT
score at Time 1 and the evaluation outcome at Time 2, the sensitivity and specificity are 0.85 and 0.93, respectively.
(The sensitivity is as high as 0.95 if the
possible misses are not included as
misses). It is possible that the psychometric properties of the M-CHAT will be
different when larger numbers from an
unselected population are obtained.
Although this is still a work in
progress, based on the data collected to
date, certain items appear to be helpful in
distinguishing between children with
ASD as compared to those with a non-
OTHER MEASURES
●
DUMONT-MATHIEU & FEIN
ASD developmental disorder [Dixon et
al., in press]. In particular, item 7 ‘point
for interest’ seem to be the most potent
discriminator between the two groups of
children.
The diagnoses made at 2 years old
also appear to be relatively stable based
on the available follow up data. Although
in a few cases, children moved from a
non-ASD diagnosis to the typical development category, most of the changes in
diagnosis were from an ASD to a nonASD developmental disorder. Whether
this change in diagnosis is due to misdiagnosis at Time 1 or is the result of
early intervention and/or increasing maturity remains unclear at this time.
Part of the Early Detection study is
the screening of the siblings of children
with ASDs. Recent analyses of data collected from younger siblings of children
diagnosed with an ASD found an initial
screen positive rate (before phone interview) of 43%. As the M-CHAT is a
parent-report measure, it is possible that
these figures are partially inflated because
of increased parental concern as a result
of the previous ASD diagnosis of the
older sibling. After the phone interview,
30% remained a positive screen. Twenty
three percent of the younger siblings
were evaluated and diagnosed with an
ASD. This is a higher rate than what has
been reported in the literature for siblings, which may be due to an ascertainment bias, the parents of the siblings in
this study may have sought participation
in the study as a result of concerning signs
that they observed.
The study also involves screening
of children within low risk settings (primary care provider sites, Peds) and high
risk settings (early intervention sites, EI).
Based on 20 children screened through
pediatric offices, the items that discriminate the children with Peds-referred
ASD from the EI-referred ASD appear to
be highly similar.
CHAT-23
Wong et al. [2004] used the MCHAT and CHAT to develop a screening tool for use with a sample of Chinese
children, the CHAT-23. The changes
made to the original M-CHAT were the
translation of the questions into “traditional chinese” and the addition of a
graded scoring system [never (0%), seldom (⬍25%), usually (25–50%), or often
(⬎50%)] for 22 of the 23 M-CHAT
questions instead of the yes/no responses
of the original M-CHAT. The graded
system was subsequently collapsed into
yes (usually/often) and no (never/seldom) grouped to define fail/pass. In adMRDD RESEARCH REVIEWS
●
SCREENING
dition to the 23 item-questionnaire, the
CHAT-23 has an observational section
consisting of 5 direct observational items
from the CHAT. When used with 212
children (87 with ASD and 125 nonASD) with the mental age range of
18 –24 months, Wong et al. found that
failing any 2 of 7 key questions (imitate,
pretend, point for interest, check reaction of parent, bring objects to show,
follow a point, and take interest in other
children) or any 6 of the overall 23 questions in the parent administered questionnaire yielded a sensitivity of 0.931
and 0.839, respectively. The specificity
was of 0.768 or 0.848, respectively. The
authors suggest a two-level screening system beginning with the M-CHAT and
proceeding to the use of the observational portion of the CHAT for those
who failed the M-CHAT. If the observation is failed, the child would then be
referred for an autism evaluation. The
fact that the psychometric properties being found when the CHAT-23 is used
with a sample of Chinese children so
closely resemble what is being found
with the M-CHAT supports the validity
of these instruments. In Wong et al.’s
study, the chronologic ages of the enrolled children whose mental ages were
18 –24 months old were 16 – 86 months
old. It is important to note that when
used with children whose mental ages are
not known to be 18 –24 months, the
efficacy of the tool may be different. In
addition, this range of chronologic ages is
quite wide, future research should examine whether the screener is equally valid
across this age range.
CONCLUSION
At this time, early intervention is
the best response to Autistic Spectrum
Disorders. Given this fact, the development of reliable tools for screening children under three years old is imperative.
Early screening will lead to early diagnosis, early intervention, and the ultimate
goal–improved outcomes. There remains
the need for further research to elucidate
many issues. When is the best age to
screen? Are the diagnoses made in the
toddler years stable? If the children subsequently improve, is it due to the effects
of early intervention or was the early
diagnosis incorrect? What is the best way
to screen for autism? Is preliminary general developmental surveillance/screening best or is autism-specific screening
needed for all children? Are there populations, such as the siblings of children
with ASDs, for whom autism-specific
tools are best?
FOR
AUTISM: THE M-CHAT
AND
Since many of the autism-specific
tools for screening in young children are
still under development, close attention
needs to be paid to their psychometric
properties in different SES and ethnocultural groups. The M-CHAT is one of
a few tools, which show promise as a
screening tool in different populations of
unselected children. It has been translated
into Turkish, Chinese, Japanese, and
Spanish. It will be important to evaluate
the findings of studies using the
M-CHAT in these different languages
and cultures for similarities and differences in their findings. Beyond the languages being used, different cultural and
socio-economic groups may interpret the
questions differently, yielding different
results. Not only may the specific signs/
symptoms of autism vary across cultural
groups, the meaning attributed to them
by parents may as well. For example, the
fact that a child does not point or make
eye contact may be considered appropriate and acceptable if to point and make
eye contact with adults is considered a
sign of disrespect. Therefore, more work
focused on understanding what concerns
compatible with ASDs may be more universal than others is needed.
Despite these unresolved issues, a
few facts remain clear. First, primary care
providers are the appropriate people to
screen children between birth and the
age of 5 years old, since they are the
qualified professionals with whom parents have ongoing contact. Second, the
well-child care visit provides only a limited amount of time for the screening of
children, with each of the many disorders
potentially requiring that their own
screening tool and process be used. The
tools that will be used by providers are
likely to be those that accurately flag children for many developmental disorders.
Third, in light of the data supporting the
usefulness of eliciting parental concerns,
any tool used will probably need to incorporate the parent’s perspectives.
Fourth, data suggests that children of parents from minority racial/ethnic backgrounds regardless of SES and those with
lower socio-economic status may not be
receiving quality health care. This disparate care includes a lack of screening, evaluation/diagnosis, and service provision.
This must be addressed promptly, since
the literature supports the notion that the
earlier the identification of and intervention for developmental disorders, the
better the outcomes.
ACKNOWLEDGMENTS
We thank the Early Detection Team
at the University of Connecticut (Mari-
OTHER MEASURES
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DUMONT-MATHIEU & FEIN 259
anne Barton, Sarah Hodgson, James Green,
Gail Marshia, Pam Dixon, Jamie Kleinman, Juhi Pandey, Hilary Boorstein,
Emma Esser, Leandra Wilson, Michael
Rosenthal, Saasha Sutera, and Alyssa Verbalis); our collaborators at the Yale University Child Study Center (Fred Volkmar,
Ami Klin, Katarzyna Chawarska, Tammy
Babbitz), the University of Washington
(Geraldine Dawson, Karen Toth), and Diana Robins at Georgia State University.
Most importantly, we thank the families
and children who are participating in the
ongoing Early Detection Study. Special
thanks to the library staff at St. Francis
Hospital in Hartford, CT for their ongoing
assistance.
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APPENDIX: M-CHAT*
Please fill out the following about how your child usually is. Please try to answer every question. If the behavior is rare (e.g., you
have seen it once or twice), please answer as if the child does not do it.
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Does your child enjoy being swung, bounced on your knee, etc.?
Does your child take an interest in other children?
Does your child like climbing on things, such as up stairs?
Does your child enjoy playing peek-a-boo/hide-and-seek?
Does your child ever pretend, for example, to talk on the phone or take care of dolls, or pretend other things?
Does your child ever use his/her index finger to point, to ask for something?
Does your child ever use his/her index finger to point, to indicate interest in something?
Can your child play properly with small toys (e.g., cars or bricks) without just mouthing, fiddling, or dropping them?
Does your child ever bring objects over to you (parent) to show you something?
Does your child look you in the eye for more than a second or two?
Does your child ever seem oversensitive to noise? (e.g., plugging ears)
Does your child smile in response to your face or your smile?
Does your child imitate you? (e.g., you make a face—will your child imitate it?)
Does your child respond to his/her name when you call?
If you point at a toy across the room, does your child look at it?
Does your child walk?
Does your child look at things you are looking at?
Does your child make unusual finger movements near his/her face?
Does your child try to attract your attention to his/her own activity?
Have you ever wondered if your child is deaf?
Does your child understand what people say?
Does your child sometimes stare at nothing or wander with no purpose?
Does your child look at your face to check your reaction when faced with something unfamiliar?
Yes
Yes
Yes
Yes
Yes
Yes
Yes
Yes
Yes
Yes
Yes
Yes
Yes
Yes
Yes
Yes
Yes
Yes
Yes
Yes
Yes
Yes
Yes
No
No
No
No
No
No
No
No
No
No
No
No
No
No
No
No
No
No
No
No
No
No
No
*©1999 Diana Robins, Deborah Fein, and Marianne Barton
262 MRDD RESEARCH REVIEWS
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SCREENING
FOR
AUTISM: THE M-CHAT
AND
OTHER MEASURES
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DUMONT-MATHIEU & FEIN