Research in Autism Spectrum Disorders 6 (2012) 1924

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Research in Autism Spectrum Disorders

Journal homepage: http://ees.elsevier.com/RASD/default.asp

Autism diagnosis and screening: Factors to consider in differential

diagnosis
Johnny L. Matson *, Jennifer Beighley, Nicole Turygin
Louisiana State University, USA

A R T I C L E I N F O A B S T R A C T

Article history: There has been an exponential growth in assessment methods to diagnose disorders on the
Received 5 June 2011 autism spectrum. Many reasons for this trend exist and include advancing knowledge on
Accepted 9 August 2011 how to make a diagnosis, the heterogeneity of the spectrum, the realization that different
Available online 22 September 2011 methods may be needed based on age and intellectual disability. Other factors include the
recognition that some testing will be for diagnosis, while other diagnostic work will be for
Keywords: identifying targets for intervention and for monitoring symptoms over time. Measures of
Autism co-occurring conditions that interface with measures of core symptoms are also needed
Methodology
and should aid in multidisciplinary treatment. In addition to these factors we discuss
Diagnosis
factors associated with observational data collection methods, length, and scoring of
Symptom monitoring
evaluations and the fallacy that a gold standard for diagnosis of autism exists or in fact is
desirable. The implications of these data are discussed.
2011 Elsevier Ltd. All rights reserved.

The diagnosis of autism, pervasive developmental disorders-not otherwise specied, and Asperger syndrome (referred to
as autism for the remainder of this review and in anticipation of DSM-V) is growing rapidly (Leonard et al., 2010; Matson &
Kozlowski, 2010; Matson & LoVullo, 2009; Sun & Allison, 2010). They are a set of conditions believed to be
neurodevelopmental in nature (Briegel, Schimek, & Kamp-Becker, 2010; Gillberg, 2010; Lo-Castro, Benvenuto, Gallasso,
Porrio, & Curatolo, 2010; Matson, Hess, Mahan, & Fodstad, 2010; Matson & Neal, 2009a, 2009b; Nyden et al., 2010a, 2010b;
Prandota, 2010a, 2010b; Schroeder, Desrocher, Bebko, & Cappadocia, 2010; Smith & Matson, 2010a, 2010b, 2010c;
Weissman & Bates, 2010). Three major decit areas make up the diagnosis and include social, communication, and rituals
and stereotypies (Leaf, Dotson, Oppenheim, Sheldon, & Sherman, 2010; Matson & Dempsey, 2008; Matson, Gonzalez, &
Wilkins, 2009; Matson, Matson, & Rivet, 2007; Matson & Wilkins, 2008a, 2008b, 2009; Saint-Georges et al., 2010). Other,
common co-occurring problems are intellectual disabilities, epilepsy, sensory and gross motor decits (Bakken et al., 2010;
Chen, Planche, & Lemonnier, 2010; Kalyva, Pellizzoni, Tavano, Iannello, & Siegal, 2010; Lennen, Lamb, Dunagan, & Hall, 2010;
Lotan, Yalon-Chamovitz, & Weiss, 2010; Marcus, Sinnott, Bradley, & Grey, 2010; Matson, Dempsey, LoVullo, & Wilkins, 2008;
Matson, Dixon, Matson, & Logan, 2005; Matson, Hess, & Boisjoli, 2010; Matson, Hess, Sipes, & Horovitz, 2010; Matson,
Mahan, Fodstad, Hess, & Neal, 2010; Matson & Neal, 2009a, 2009b; Matson, Mahan, Hess, & Fodstad, 2010; Matson &
Shoemaker, 2009). Additionally, emotional problems and challenging behaviors are also known to occur at high rates (Davis
et al., 2010; LoVullo & Matson, 2009; Matson, Boisjoli, Rojahn, & Hess, 2009; Matson, Hess, & Boisjoli, 2010; Matson, Mahan,
Hess, Fodstad, & Neal, 2010a, 2010b; Matson & Minshawi, 2007; OReilly et al., 2010). On a positive note, intensive applied
behavior analysis programs, implemented early in life can result in relief for many of these symptoms and may result in long-
term positive social adjustment, health, and happiness (Giannoni & Kass, 2010; Makrygianni & Reed, 2010; Matson &
LoVullo, 2008; Matson & Smith, 2008; OConnor & Healy, 2010; Peters-Scheffer, Didden, Mulders, & Korzilius, 2010; Zachor &
Ben Itzchak, 2010).

* Corresponding author at: Department of Psychology, LSU, Baton Rouge, LA 70803 USA.

1750-9467/$ see front matter 2011 Elsevier Ltd. All rights reserved.
doi:10.1016/j.rasd.2011.08.003
20 J.L. Matson et al. / Research in Autism Spectrum Disorders 6 (2012) 1924

Because of the issues just noted, there have been and continue to be major developments in screening and diagnosis of
core symptoms of autism and the conditions which often accompany them. Common co-occurring problems that are
frequently observed when autism is present also require assessment. Given these developments in diagnosis, which are at a
historic level of activity, some perspectives on where we are on some issues that need to be addressed are discussed.

1. What is a gold standard?

A commonly used term in the eld of mental health is the notion of a gold standard, whether referring to a particular
intervention or diagnostic method. The implication of this term is that the method is the best available, and the procedure by
which all similar procedures should be judged. We argue that with respect to the assessment and diagnosis of autism, no
such gold standard exists, nor is one particular measure likely to emerge in the foreseeable future. Also, despite the notion
that autism has a neurodevelopmental cause, diagnosis is at this point based solely on observable behaviors (Brown,
Ouellette-Kuntz, Hunter, & Kelley, 2010; Clifford, Hudry, Brown, Pasco, & Charman, 2010; Nyden et al., 2010a, 2010b;
Schroeder et al., 2010). As a result, diagnosis is typically accomplished through observation of the child, interview of one or
more caregivers, typically involving one or more tests of core symptoms of autism with established reliability and validity,
and review of client history.
The most dynamic and rapidly evolving and some would say, the centerpiece of diagnosis is the test of core symptoms. A
few points are becoming clear for most developed countries. First, because of the success of early intervention and the
development of region and countrywide methods of identifying autism, diagnosis between 1 and 3 years of age is becoming
the standard. The implication of this trend is that tests for diagnosing children for autism after this dened period are rapidly
becoming obsolete. The primary purpose for assessment after 3 years of age will in the future largely be for monitoring
severity of known symptoms. This latter goal is an important one, nonetheless (Keen, Couzens, Muspratt, & Rodgers, 2010;
Kelley, Naigles, & Fein, 2010; Rosales, Worsdell, & Trahan, 2010). Additionally, given the lifelong nature of the condition,
these assessments of symptom progress/severity need to extend throughout childhood, adolescence, and adulthood.
Second, the norms for these diagnostic tests need to be primarily for 13 years of age. It is also our view that total
population screens are unnecessary, very costly, and frankly almost impossible to implement. Rather, at risk children
dened as small children with delayed developmental milestones, challenging behaviors, birth defects, epilepsy, and other
events that are red ags for autism should be the target group for evaluation versus all children.
Third, multiple tests across the lifespan will be needed. The autism test methods are advancing so rapidly that a one test
ts all gold standard is not possible. Symptoms and interventions differ based on age and intellectual functioning level
(Palmen, Didden, & Kozilius, 2010). Thus, a matrix of scales with specic norms for children, adolescents, young adults, and
older adults, parsed into high intellectual functioning, mild/moderate intellectual disability, and severe/profound
intellectual disabilities are needed. A look at available scales will allow the reader to note this trend is already occurring
(Eagle, Romanczyk, & Lenzenweger, 2010; Leaf et al., 2010; Matson, Mahan, Hess, Fodstad, & Neal, 2010b; Zachor, Ilanit, &
Ben Itzchak, 2010).
Given the fact that tests which measure core symptoms of autism and related problems have proliferated, the clinicians
and researchers should be selective in choosing a measure or measures that are a best t for a given clinical/research
question. By denition then, various methods and procedures will vary by age group, or whether the assessment is for
diagnosis, selecting targets for intervention, or for monitoring progress. This development is healthy for the eld and should
result in better service provision and superior outcomes.

1.1. Length of evaluation

More is not necessarily better. More can mean a longer period of assessment, more questions, more types of assessment
(caregiver report, structured interview, direct observation) or multiple informants (a caregiver, two caregivers, other
professionals). The primary variable to consider is the purpose of the evaluation. The law of parsimony should apply. The
simplest, shortest assessment which produces the desired outcome should be used. A screening instrument for example, can
typically be brief and lled out by one caregiver. However, an initial diagnosis with physical and behavioral complications
may take multiple sessions and a variety of assessment instruments. Again, the eld is at a point where assessment should be
tailored to these circumstances, goals, and needs of the family. These evaluations will be focused on the high incidence
spectrum disorders, autism, Asperger syndrome, and pervasive developmental disorder-not otherwise specied (Matson &
Neal, 2009a). And, as the reader is aware, all three of these will be designated as autism in DSM-V.

1.2. The DSM-V debate

Wing, Gould, and Gillberg (2011), who are all very eminent researchers in the eld, have recently presented a major
criticism of these proposed new criteria for autism in the DSM-V. The new criteria collapse autism, Asperger syndrome, and
PDD-NOS under the heading of autism, while excluding two current conditions on the spectrum; Rett syndrome and Child
Disintegrative Disorder. This change obviously affects assessment and diagnosis. However, they also point out one other
potential major problem. They note that criteria are grouped under two criteria; social and communication decits, and
 J.L. Matson et al. / Research in Autism Spectrum Disorders 6 (2012) 1924 21

repetitive behaviors. Wing et al. (2011) argue that these criteria are not dened in objective, observable behaviors and that as
a result only professionals with considerable experience and expertise will be able to effectively use these criteria.
Wing et al. (2011) stress the need for diagnosis prior to age 3; we concur. In the future this approach will prove to be
almost universal, and will require a somewhat different methods. Social factors, mostly nonverbal behaviors, will be the
primary factors. Children with higher functioning autism and the current Asperger syndrome may need rule-out diagnoses,
with tracking and later diagnosis at perhaps 510 years of age being the norm for this group. Wing et al. (2011) point out that
oddities in behavior emerge later for some when social demands exceed limited capacities. This issue is particularly salient
for this higher functioning group.
DSM-V will place additional burdens on diagnosticians and test developers. Our biggest concern is that these changes are
radical versus incremental, and do not necessarily have a research base to support these modications. Having said that, no
matter the nal outcome, we would stress that the importance of the DSM criteria should not be confused with or supersede
the empirical literature, or empirically derived assessment instruments.

1.3. Symptom severity and change over time

The DSM-V proposes a collapse of the three high incidence ASD (autism, PDD-NOS, and Asperger syndrome) into one
category, autism. As a result of this change, severity scores and cutoffs will become even more important for service and
treatment planning. As a result, issues arise as to how best to measure this construct. Cutoff scores can be based on standard
deviations, which has the value of dening behavior problems based on a normal probability distribution. By denition,
unusual, atypical behavior should be infrequent. Thus, one standard deviation indicates mild symptoms, and two or more
standard deviations on autistic symptoms are an accepted convention for severe symptoms. The biggest problem with this
approach is the assumption that all symptoms are equal. Of course, this is not the case in real world settings.
Two methods are used in the eld of autism to deal with this problem of all symptoms being weighted as equal. One
approach is to identify key items which are must score items, and thus are weighted outside the overall symptoms matrix.
The CHecklist for Autism in Toddlers (CHAT) (Baron-Cohen, Allen & Gillberg, 1992) is an example of this approach. A second
approach is to conduct a factor analysis, or other statistical approach to group items, where some items from the scale
constitute a subset which measures a construct within the larger construct of autism. A percent of items in each construct
would then have to be scored positive. The scoring system for autism in the DSM-IV is an example of this scoring model. A
third approach is to use multiple measures of the same construct, and then compare tests to determine if cutoffs are similar
across scales, since each of these tests score and weight items a bit differently.
Even when the clinician is attempting to establish the presence or absence of a disorder, severity of total scores, factors,
and individual items should be addressed. This issue is important for the autism spectrum disorders, given the heterogeneity
of the overall construct and for the autism spectrum (e.g. PDD-NOS, Asperger Syndrome). With the collapse of the three high
prevalence conditions into autism with DSM-V, this issue will take on even greater importance.
These issues have very important implications for how intensive interventions should be priorities for treatment. Other
factors that by diagnosis will be affected include assigning resources, the potential for long-term positive outcomes, and
other pragmatic concerns (Benson, 2010; Chowdhury, Benson, & Hillier, 2010; Cuvo, Reagan, Ackerlund, Huckfeldt, & Kelly,
2010; Dotson, Leaf, Sheldon, & Sherman, 2010; Marcus et al., 2010; Wichnick, Vener, Pyrtek, & Poulson, 2010).

1.4. Observational data

The old operant denition for superstitious behavior is replete in clinical practice. Many practices are data based, but
others are based on long-term use of a given procedure. Also, as part of a diagnostic battery, some elements may produce the
desired diagnostic outcome, while other elements may be viewed as critical with little or no data to prove the point. The rst
author is reminded of consulting trips to developmental disability services to work with highly aggressive adults with
intellectual disabilities. Staff would routinely insist that the client be observed, although the clients were never engaged in
the problem behavior when observed and the client frequently would be asleep or was severely sedated or both. Thus, for the
purpose of developing an intervention, these observations were of no value.
The question then becomes, should a lengthy or even brief observational period be part of a diagnostic evaluation for
autism. Our response is probably, but it depends. A variety of factors are involved. First, and most important, is the clinician
likely to see the behaviors/symptoms in question. The comfort level of the child and the parent(s) in a non-natural
environment such as a clinic therapy room may be less preferable than a home visit by the clinician. Second, due to the rural
nature and lack of expertise in many parts of most countries, it may be difcult to conduct a direct observation. Thus, a phone
interview and/or emailed test form(s) may be the best option. It may also be possible to train pediatricians, nurses, etc. in
isolated areas to collect observational data. However, that may require specialized funding and a sufcient number of
professionals may not be available.
Third, physical disabilities such as cerebral palsy, seizures, major motor delays, challenging behaviors, and intellectual
disabilities can also make diagnosis more difcult. For example, the child may tantrum for the entire observation period.
Unless a more lengthy, demand/structure related observation is possible, the observation may yield little data on autism.
Fourth, parents may be unwilling to participate in observational components of an evaluation. Parents may also
inadvertently interrupt, or provide visual, verbal cues that are observational confounds.
22 J.L. Matson et al. / Research in Autism Spectrum Disorders 6 (2012) 1924

There are other issues that can complicate, spoil, and make observational data problematic. The point is that observations
are optimal, but they may not always be possible. What this also points out is that multiple dimensions of data collection
should be in place, since accurate observational data may not always be an option. Thus, multiple informants, multiple
measures, and past history should be a part of this equation. Optimal assessment conditions are not always possible, but
should not be viewed as a rationale for not conducting an assessment/diagnosis.

1.5. Cultural differences

At this point, autism has been established as in international condition with relatively consistent symptoms globally.
Many nations are in the process of developing scaling methods to evaluate core symptoms of the disorder. Autism presents
with a consistent set of core symptoms. Having said that, subtle differences across ethnic groups and cultures also exist and
should be factored in with respect to scale development. What this points to is the need for measures to be normed for
specic cultures. Also language is an issue that will need to be addressed. Words and phrases may be similar, but not
identical based on language and culture. Thus, data by country may be comparable, but not identical. Future developments
on this topic that are extensive in nature are needed.

2. Conclusions

A variety of factors that inuence and dictate differential diagnosis of ASD have emerged in recent years. As the subeld of
assessment in this topic area continues to be developed and rened, researchers and clinicians will need to adjust how they
address the topic. As a rule of thumb, more specialized measures will be available and the methods of assessment will
become more uniform across cultures and countries. Of course, attention to specic cultural values will need to be prime
factors in these developments.
Screening and diagnosis for children 13 years of age will become a standard practice. Persons will also be tracked across
the lifespan. Measures at early ages will focus on diagnosis and identifying targets for intervention. While efforts to
determine if individuals are still on the spectrum in later childhood, adolescence and adulthood, the focus should shift
primarily to monitoring treatment effects and general symptom presentation. Additionally, as seen with the emergence of
the DSM-V, how the disorder is reviewed and diagnosed will continue to evolve, but not without controversy. The
assessment of autism should continue to develop rapidly.

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