Int. J.

Devl Neuroscience 39 (2014) 44–48

Contents lists available at ScienceDirect

International Journal of Developmental Neuroscience

journal homepage: www.elsevier.com/locate/ijdevneu

Diagnosing young children with autism

Johnny L. Matson, Rachel L. Goldin ∗
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: The starting point for any research on Autism Spectrum Disorder (ASD) involves the identification of
Received 23 December 2013 people who evince the condition. From this point follows research on symptom presentation, genetics,
Received in revised form 22 February 2014 epidemiology, animal models, treatment efficacy, and many other important topics. Major advances have
Accepted 23 February 2014
been made in differential diagnosis, particularly with young children. This fact is particularly important
since ASD is a life long condition. This review documents recent advances and the current state of research
Keywords:
on this topic.
Autism
© 2014 ISDN. Published by Elsevier Ltd. All rights reserved.
Diagnosis
Young children

The field of Autism Spectrum Disorders (ASD) has expanded
rapidly in the last three decades (Lai et al., 2013; Matson and
LoVullo, 2009). Once believed to be rare, and to be due to poor
parenting, researchers have now established that the disorder is
common and a biobehavioral model of etiology has been estab-
lished (Matson and Kozlowski, 2011). While the exact cause of
ASD has yet to be determined, genetics are definitely implicated
(Poultney et al., 2013). In utero insult, the presents of toxins dur-
ing and after gestation, have also been suggested as a possible cause
(Chauhan and Chauhan, 2006; Garrecht and Austin, 2011; Kim et al.,
2010).
Long term prognosis of ASD is poor without early and prolonged
treatment. At present, operant conditioning (e.g., applied behavior
analysis) is the core intervention, structured educational environ-
ments, speech/communication therapy, occupational and physical
therapy also have strong empirical support as important add on
therapies (Causin et al., 2013). There are no pharmacological meth-
ods which have proven to be effective for the treatment of the core
symptoms of ASD at this time. However, medications are often used
to treat comorbid conditions such as seizures, anxiety disorders,
depression, and ADHD (Horovitz et al., 2012a; Lake et al., 2012;
Mannion et al., 2013).
Core symptoms of ASD consist of deficits in communication,
social skills, and stereotypic and ritualistic behaviors (Matson and
Wilkins, 2009). These deficits are consistent across individuals
diagnosed with ASD, but the severity of individual symptoms may
vary considerably from case to case (Gürkan and Hagerman, 2012;
Lewis et al., 2007). Adding further to the heterogeneity of the con-
dition is the co-occurrence of a host of problematic behaviors and
disorders. Intellectual disability is the most common disorder noted
in conjunction with ASD. The overlap with ASD may be as high
as 70% (Lai et al., 2013; Matson et al., 2009). Challenging behav-
iors such as aggression, tantrums, eating disorders, stereotypic and
self-injurious behavior are also common (Matson and Rivet, 2008;
Moore, 2009). Other frequent comorbidities include ADHD, anxi-
ety disorders, depression, and obsessive compulsive behavior, as
well as deficits in a host of adaptive skills (LoVullo and Matson,
2009; Smith and Matson, 2010a,b,c). If that is not enough, seizures,
developmental coordination disorder, gastrointestinal problems,
and cerebral palsy are also common co-occurring disorders (Matson
and Goldin, 2013; Surén et al., 2012).
These issues have led researchers to begin to question the
possibility of a common genetic profile and neurodevelopmental
pathways that may exist between ASD and a host of other disorders.
This evolution in diagnostic thinking also points out and under-
scores the link between basic research and applied methods and
procedures. The study of genetics and physiological structures and
mechanisms relies in large part on the link to behavioral expression
of symptoms. These symptoms are currently captured largely via
observation and the use of paper and pencil tests given by trained
clinicians. Thus, systematic, comprehensive, reliable, and valid test-
ing methods are a starting point for human research on ASD. The
researcher must have an accurate appraisal as to who has ASD and
who does not.

1. First concern
∗ Corresponding author at: Department of Psychology, LSU, Baton Rouge, LA
70803, USA. Tel.: +1 225 578 1494. The advent of Early Intensive Behavioral Intervention has put
E-mail address: rgoldi3@lsu.edu (R.L. Goldin). considerable pressure on clinicians to diagnose at younger and

http://dx.doi.org/10.1016/j.ijdevneu.2014.02.003
0736-5748/© 2014 ISDN. Published by Elsevier Ltd. All rights reserved.

J.L. Matson, R.L. Goldin / Int. J. Devl Neuroscience 39 (2014) 44–48
younger ages. Until recently, diagnosis most frequently occurred
when the child reached school age (5–7 years of age; Howlin, 1997;
Mandell et al., 2002, 2005; Yeargin-Allsopp et al., 2003). However,
efforts are being made to push the age down to younger children.
There is no consensus on when the best time would be to start treat-
ment. Most researchers simply say the earlier the better (Ortega
et al., 2013; Zwaigenbaum et al., 2013). One line of assessment
research aimed at early diagnosis is referred to as “age of first con-
cern” (Twyman et al., 2009). Among the problems first reported
by parents are language delays, poor social skills, and unusual,
unwanted behaviors (Gaspar de Alba and Bodfish, 2011). Addition-
ally, first concerns are evident in ASD before they are evident in
many other developmental disabilities. While results have been
mixed, researchers have also reported that parents concern for ASD
may occur earlier in females than males (Horovitz et al., 2012b;
Volkmar et al., 1993).
Parents, particularly mothers, report that they believe some-
thing is wrong very early, prior to two year of age (Chakrabarti,
2009; De Giacomo and Fombonne, 1998). However, early on par-
ents often have difficulty pinpointing exactly what is wrong. One
method researcher have used to help pinpoint specific symptoms
are home movies (Saint-Georges et al., 2010). Researchers viewed
movies of children 24 months of age or younger who were later
diagnosed with ASD. Most of these studies looked at older infants
and toddlers. A number of researchers have reported deficits in all
core symptoms of ASD. Among these problems were flat affect, lack
of interest in others, abnormal gaze, deficits in a host of communica-
tion skills and motor delays. The autistic children also evinced more
stereotyped vocalizations, poor attention, inappropriate object use,
and odd play habits (Baranek et al., 2005; Colgan et al., 2006;
Eriksson and DeChãteau, 1992; Maestro et al., 1999). Thus, diag-
nosis at an early age is possible, since a range of symptoms can be
identified early on in the child’s life.
2. Heterogeneity
The range of core symptom severity varies considerably from
one individual to another diagnosed with ASD. The more severe the
core symptoms, the earlier parents are likely to detect and report
concerns (Howlin and Asgharian, 1999; Sivberg, 2003). Often par-
ents do not realize that these symptoms characterize ASD. Rather,
they are simply aware that something is amiss. Nonetheless, early
detection of possible problems and referral to professionals, can
increase the chance of early assessment and diagnosis. A paradox
however, is that while the most severely afflicted children are most
readily identified, they also require the most intervention. Addi-
tionally, these more severely impaired children have the worst
prognosis (Baird et al., 2006; Klin et al., 2007; Rojahn et al., 2009).
The factor most closely associated with poor prognosis is not
symptoms of ASD. Rather, intellectual disability, and in turn the
severity of the cognitive deficits, is the most critical factor. Upwards
of 70% of persons with ASD also have intellectual disability. Short
and Schopler (1988) noted that parents were more likely to report
concerns at an early age when low IQ was present. Others have
found the opposite; IQ was not a factor in early detection (Rogers
and DiLalla, 1990; Volkmar et al., 1985). These authors are all likely
to be right. Mild deficits in IQ may have little effect on early detec-
tion, while moderate deficits in IQ are likely to result in earlier
concerns due to delays in developmental milestones at the same
time detectable core deficits in ASD are present (Kozlowski et al.,
2011; Lord, 1995). Conversely, where severe IQ deficits are present,
speech and other developmental milestones may be so great that
many core ASD symptoms may not be detected. These factors all
lead to the conclusion that an experienced diagnostician is needed
as are standardized test to help detect specific symptoms and their
severity in a systematic way.
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45
ASD symptoms are present by the time the child reaches one
year of age in many cases (a subset of children develop fairly nor-
mally until about two years of age and then “regress” into full
blown autism; Chakrabarti, 2009; Kishore and Basu, 2011). Sim-
ilarly, intellectual disabilities and some commonly co-occurring
medical problems such as seizures and cerebral palsy are evident
very early on in the child’s life. A number of mental health prob-
lems are also present but emerge later. Common difficulties the
child may display include ADHD, anxiety disorder, obsessive com-
pulsive disorder, depression, and challenging behaviors. Some of
these problems occur very frequently in conjunction with ASD.
ADHD, for example, has been reported in half the ASD cases (Leyfer
et al., 2006). Some symptoms of ADHD can be detected as early as
two to three years of age, but ADHD diagnosis tends to be given
once the child reaches school age. Demand to sit quietly and attend
to designated tasks increases dramatically, and as a result, makes
symptoms of ADHD much easier to detect.
Anxiety among persons with ASD is also most frequently seen
at school age and in adolescents (Vasa et al., 2013). Up to 40% of the
1316 people they assessed, evinced anxiety at a clinically significant
level, while 26% evinced subclinical levels of anxiety. Also, individ-
uals with ASD and an anxiety disorder were more likely to have
other comorbid conditions including ADHD, oppositional defiant
disorder, and somantic symptoms.
For the clinician this means initial diagnosis of core symptoms at
an early age; two to three years old. Stability of clinical diagnoses
made at age two or three has been found to be high (Chawarska
et al., 2007; Eaves and Ho, 2004; Gillberg et al., 1990). Eaves and
Ho (2004) reexamined four and a half year old children who had
been diagnosed with ASD at two years of age. They found that 79%
of the children retained their diagnosis of ASD. At the time of ini-
tial diagnosis, the assessment of several comorbid disorders (see
above) would also begin. Staged assessments at various periods of
the child’s development would then be needed as other problems
emerge over time.
What do these data mean for basic research? First, it is impor-
tant to be familiar with protocols that result in reliable diagnoses
and comorbid disorders. Being licensed or certified as a clinical
psychologist, psychiatrist, pediatrician, or child neurologist does
not guarantee an accurate diagnosis. Second, these data point out
many possible interlocking disorders that may be explained with
advances in genomic science. Third, more needs to be done to link
basic and applied research on ASD, but that likely will be part of the
natural evolution of the field. Finally, basic and applied researchers
should become more familiar with the work of researchers across
the breath of disciplines working in the ASD area. This approach will
strengthen cross disciplinary research and decrease the likelihood
of unnecessary replication of findings.
3. Diagnostic problems in clinical practice
As noted, many professionals who are licensed and/or certified
in their discipline and who conducted a diagnostic workup of ASD
may not perform the task correctly and may produce an inaccu-
rate result. This fact may explain why waits of up to two to three
years while seeing an average of four and a half professionals has
been reported before an ASD diagnosis is made (Chakrabarti, 2009;
Goin-Kochel et al., 2006). Not surprisingly, the more profession-
als consulted, the more dissatisfaction the parents report with the
process. What may be more surprising is that parents had the for-
titude to continue to seek out professionals until the ASD diagnosis
was made. Also, given this high number of consults, many parents
may have given up before obtaining a diagnosis. Another issue is
that parents who truly wanted an ASD diagnosis, may have “doctor
shopped” until they received the desired outcome.

46 J.L. Matson, R.L. Goldin / Int. J. Devl Neuroscience 39 (2014) 44–48
Delays in diagnosis have also reportedly caused parental stress
in many instances. Typical concerns parents report include anxiety,
helplessness and uncertainty (Midence and O’Neill, 1999; Schall,
2000). Lack of professional collaboration with parents and failure
to build adequate rapport has also been associated with parental
dissatisfaction (Moh and Magiati, 2012). Furthermore, simply hav-
ing a small child with ASD can bring on considerably more anxiety
and stress than raising a typically developing child (Boyd, 2002;
Dunn et al., 2001; Ornstein Davis and Carter, 2008). And, the time
and financial costs are also issues that often surface during the
diagnostic process.
To enhance diagnosis, and make it more systematic, various
strategies may be useful. First, the entry point for most children who
eventually are diagnosed with ASD will be parent–pediatrician con-
tact. Various media and information campaigns have been launched
to aid parents in early signs and symptoms they should look for
with respect to possible ASD. This factor, combined with recom-
mendations such as those proposed by the American Academy of
Pediatrics, should prove to be of considerable value. The American
Academy of Pediatrics provides pediatricians with a clear step-by-
step algorithm to follow depending on the answers provided by
parents. The American Academy of Pediatrics stress that the pedi-
atrician should ask parents about any developmental concerns at
every well-child visit. If parental concerns are raised, it is recom-
mended that a standardized screening for ASD be administered.
Further, if concerns are raised at 18 month of age, even if nothing
comes of the screening at that point, it is recommended that pedia-
tricians repeat the screening at 24 months to identify any child that
may have regressed after 18 months of age. Results of that screening
then determine whether a comprehensive evaluation is needed or
not (Johnson et al., 2007).
A diagnostic measure does not need to differentiate normal
development from atypical development. There is ample research
that parents are very capable of accurately making such distinc-
tions (Baghdadli et al., 2003; Chawarska, 2007; De Giacomo and
Fombonne, 1998). Thus, the purpose of an early ASD diagnosis scale
should be to first differentiate children with ASD from children at
risk for other developmental disabilities. Distinguishing ASD from
disorders such as language disorder, ID, and general developmental
delays can be difficult in young children due to overlapping symp-
toms (Baird et al., 2003; Charman and Baird, 2002; Lord, 1995;
Van Daalen et al., 2009). For example, certain features of ASD,
such as stereotypical behaviors, are also common in those with
those with ID. Researchers have shown however that the quality
of the stereotyped behaviors can be differentiated (Bodfish et al.,
2000; Carcani-Rathwell et al., 2006; Matson and Dempsey, 2008;
McClintock et al., 2003). Children with ASD have been identified as
exhibiting more motor stereotypies, and engaging in more complex
hand/finger (e.g., clapping, tapping) stereotypies and stereotypical
gait movements (e.g., spinning, skipping; Goldman et al., 2009),
than children with ID. Knowledge of distinguishing features such
as these, must be noted for accurate diagnosis to occur. Further,
clinicians must consult diagnostic criteria and determine that the
symptoms they observe cannot be better accounted for by another
disorder. For instance, a child presenting with deficits in language
acquisition and production, but exhibits no repetitive or restricted
behaviors, or deficits in socialization that cannot be explained by
the language impairments, receive a diagnosis of language disorder
rather than ASD.
Second, the scale should measure other common comorbid
disorder among young children, such as some types of psy-
chopathology including ADHD and anxiety disorders. Challenging
behaviors such as aggression and tantrums are also important to
assess. This latter approach of evaluating symptoms that commonly
occur with ASD symptoms is important for identifying future treat-
ment goals for Early Intensive Behavioral Interventions.
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Taking these issues into account, the state of Louisiana initiated
a state wide program to identify every “at risk” child from 16 to 37
months of age. Children are then assessed by one of approximately
200 professionals trained to assess for developmental milestones
and ASD. The senior author of this paper developed a measure
specifically to diagnoses ASD and the comorbid problems noted
above. This scale is called the Baby and Infant Screen for Children
with aUtIsm Traits (BISCUIT; Matson and Tureck, 2012). The term
was selected since a BISCUIT is defined as a “small, sweet” cake,
an appropriate description of little children. The test has excellent
reliability and validity, it has a parent report and observational pro-
cedures. The test has been factor analyzed and has age based norms
broken down in small increments in the 16–37 month cohort. At
this point over 10,000 children have been evaluated with the BIS-
CUIT, and over 70 papers have been published on the scale.
Other measures commonly used to screen for ASD include
the Autism Diagnostic Observation Schedule-Generic (ADOS-G; Lord
et al., 2000), Childhood Autism Rating Scale (CARS; Schopler et al.,
1988), and the Modified Checklist for Autism in Toddlers (M-CHAT;
Robins et al., 2001). The ADOS-G is a semi-structured observa-
tion/interactive measure composed of 4 modules graded according
to language and developmental level. This design allows the mea-
sure to be administered to a wide range of ages and abilities. The
ADOS-G is one of the most widely used measures and has good
inter-rater reliability, ranging from .65 to .78 (Lord et al., 2000). The
measure however takes about two hours to complete and requires
the examiner to complete extensive training. The CARS, unlike the
ADOS-G, is designed as a rating scale which includes items that
require observation information. The CARS consists of 15 scales and
can be used on children 2 years or older and adults. The scale has
been shown to have high reliability with an inter-rater reliability of
.71, an internal consistency of .94, and a test-retest reliability of .88
(Schopler et al., 1980). Additionally, the scale takes about 30 min to
administer and has been translated into several languages. Briefer
than the CARS, the M-CHAT is designed to screen for ASD using 23
items taking about 5–10 min to complete. Internal consistency was
found to be adequate at ˛ = 0.85, and it was reported the M-CHAT
to have slightly higher predictive validity compared its predeces-
sor the CHAT (Robins et al., 2001). These measures along with the
BISCUIT and many other not mentioned are a crucial component of
the ASD diagnostic process.
4. Categorizing ASD
Accurate diagnosis is a linchpin for basic and applied research.
Obviously, accurate classification is essential. Assessment instru-
ments have improved markedly in the last decade, both for early
diagnosis and for life long assessment. Also, the general aware-
ness for ASD and the symptoms that characterize it are much
better known by the general public than only a few years ago.
However, recent developments may hamper consistent diagno-
sis internationally a great deal. DSM-5 was published in 2013
amid great controversy, no more so than for the ASD diagno-
sis. Asperger’s Syndrome, Pervasive Developmental Disorder-Not
Otherwise Specified, Rett Syndrome, and Childhood Disintegrative
Disorder were all dropped. Some researchers have found that the
new diagnostic criteria have increased specificity (.95 versus .97)
which may reduce false positive diagnoses (Frazier et al., 2012;
McPartland et al., 2012). However, despite claims by the commit-
tee that these changes would not affect who is diagnosed, other
researchers worldwide have now demonstrated that as many as
40% of people previously diagnosed with ASD will no longer meet
criteria, mostly affecting those with PDD-NOS and Asperger’s Syn-
drome (Mayes et al., 2014; McPartland et al., 2012). This issue is
compounded by the fact that the European version of DSM-5, the

J.L. Matson, R.L. Goldin / Int. J. Devl Neuroscience 39 (2014) 44–48
World Health Organization - ICD-10 plans to stick with the crite-
ria established in DSM-IV. Thus, international studies will be more
difficult since the definition of ASD will be so different. Further com-
pounding this problem is the fact that insurance companies in the
US use the ICD criteria. Thus, many clinicians and researchers are
likely to bypass the DSM-5 criteria altogether. It will be interesting
to see how this problem is resolved.
5. Final points
The issues involved in the diagnosis of ASD are evolving rapidly.
Only recently have very young children been reliably diagnosed.
Various tests and screening methods are being developed. This area
of research will be very active for the near future. Other major issues
such as diagnostic criteria are in flux and could have a domino effect
on many aspects of basic and applied research. Other issues likely to
add to better diagnosis in the future are likely to involve neuroimag-
ing methods. They are currently receiving a great deal of research
attention in the ASD area. Similarly, genomic research holds great
potential for diagnosis. Given, the amount of interest in the topic,
developments are likely to increase exponentially.
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