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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
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Article history: Received 23 December 2013 Received in revised form 22 February 2014 Accepted 23 February 2014 Keywords: Autism Diagnosis Young children
a b s t r a c t The starting point for any research on Autism Spectrum Disorder (ASD) involves the identification of people who evince the condition. From this point follows research on symptom presentation, genetics, epidemiology, animal models, treatment efficacy, and many other important topics. Major advances have 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 on this topic. © 2014 ISDN. Published by Elsevier Ltd. All rights reserved.
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 established (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 during 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 environments, 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 methods 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 condition 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 behaviors 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, anxiety 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 underscores 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 testing 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. E-mail address: [email protected] (R.L. Goldin).
The advent of Early Intensive Behavioral Intervention has put considerable pressure on clinicians to diagnose at younger and
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Please cite this article in press as: Matson, J.L., Goldin, R.L., Diagnosing young children with autism. Int. J. Dev. Neurosci. (2014), http://dx.doi.org/10.1016/j.ijdevneu.2014.02.003
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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 treatment. 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 concern” (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). Additionally, 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 something is wrong very early, prior to two year of age (Chakrabarti, 2009; De Giacomo and Fombonne, 1998). However, early on parents 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 communication 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, diagnosis 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 parents 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. Additionally, 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 detection, 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.
ASD symptoms are present by the time the child reaches one year of age in many cases (a subset of children develop fairly normally until about two years of age and then “regress” into full blown autism; Chakrabarti, 2009; Kishore and Basu, 2011). Similarly, 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 problems are also present but emerge later. Common difficulties the child may display include ADHD, anxiety disorder, obsessive compulsive 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, individuals 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 initial 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 important 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 inaccurate 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 professionals consulted, the more dissatisfaction the parents report with the process. What may be more surprising is that parents had the fortitude 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.
Please cite this article in press as: Matson, J.L., Goldin, R.L., Diagnosing young children with autism. Int. J. Dev. Neurosci. (2014), http://dx.doi.org/10.1016/j.ijdevneu.2014.02.003
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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 having 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 contact. 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 recommendations 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-bystep algorithm to follow depending on the answers provided by parents. The American Academy of Pediatrics stress that the pediatrician should ask parents about any developmental concerns at every well-child visit. If parental concerns are raised, it is recommended 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 pediatricians 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 distinctions (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 symptoms (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 psychopathology 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 treatment 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 procedures. 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 BISCUIT, 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 observation/interactive measure composed of 4 modules graded according to language and developmental level. This design allows the measure 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 predecessor 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 instruments have improved markedly in the last decade, both for early diagnosis and for life long assessment. Also, the general awareness 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 diagnosis internationally a great deal. DSM-5 was published in 2013 amid great controversy, no more so than for the ASD diagnosis. 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 committee 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 Syndrome (Mayes et al., 2014; McPartland et al., 2012). This issue is compounded by the fact that the European version of DSM-5, the
Please cite this article in press as: Matson, J.L., Goldin, R.L., Diagnosing young children with autism. Int. J. Dev. Neurosci. (2014), http://dx.doi.org/10.1016/j.ijdevneu.2014.02.003
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World Health Organization - ICD-10 plans to stick with the criteria established in DSM-IV. Thus, international studies will be more difficult since the definition of ASD will be so different. Further compounding 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 neuroimaging 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. References Baghdadli, A., Picot, M.C., Pascal, C., Pry, R., Aussilloux, C., 2003. Relationship between age of recognition of first disturbances and severity in young children with autism. European Child & Adolescent Psychiatry 12 (3), 122–127. Baird, G., Slonims, V., Cass, H., 2003. Diagnosis of autism. British Medical Journal (International Edition) 327 (7413), 488–493. Baird, G., Simonoff, E., Pickles, A., Chandler, S., Loucas, T., Meldrum, D., Charman, T., 2006. Prevalence of disorders of the autism spectrum in a population cohort of children in South Thames: the Special Needs and Autism Project (SNAP). Lancet 368, 210–215. Baranek, G.T., Barnett, C., Adams, E., Wolcott, N., Watson, L., Crais, E., 2005. Object play in infants with autism: methodological issues in retrospective video analysis. The American Journal of Occupational Therapy 59, 20–30. Bodfish, J.W., Symons, F.J., Parker, D.E., Lewis, M.H., 2000. Varieties of repetitive behavior in autism: comparisons to mental retardation. Journal of Autism and Developmental Disorders 30, 237–243. Boyd, B., 2002. Examining the relationship between stress and lack of social support in mothers of children with autism. Focus on Autism and Other Developmental Disabilities 17, 208–215. Carcani-Rathwell, I., Rabe-Hasketh, S., Santosh, P.J., 2006. Repetitive and stereotyped behaviours in pervasive developmental disorders. Journal of Child Psychology and Psychiatry 47, 573–581. Causin, K.G., Albert, K.M., Carbone, V.J., Sweeney-Kerwin, E.J., 2013. The role of joint control in teaching listener responding to children with autism and other developmental disabilities. Research in Autism Spectrum Disorders 7, 997–1011. Chakrabarti, S., 2009. Early identification of autism. Indian Pediatrics 46, 412–414. Charman, T., Baird, G., 2002. Practitioner review: diagnosis of autism spectrum disorder in 2- and 3-year-old children. Journal of Child Psychology and Psychiatry 43 (3), 289–305. Chawarska, K., 2007. Parental recognition of developmental problems in toddlers with autism spectrum disorders. Journal of Autism & Developmental Disorders 37 (1), 62–72. Chawarska, K., Klin, A., Paul, R., Volkmar, F., 2007. Autism spectrum disorder in the second year: stability and change in syndrome expression. Journal of Child Psychology and Psychiatry 48, 128–138. Chauhan, A., Chauhan, V., 2006. Oxidative stress in autism. Pathophysiology 13, 171–181. Colgan, S.E., Lanter, E., McComish, C., Watson, L.R., Crais, E.R., 2006. Analysis of social interaction gestures in infants with autism. Child Neuropsychology 12, 307–319. De Giacomo, A., Fombonne, E., 1998. Parental recognition of developmental abnormalities in autism. European Child & Adolescent Psychiatry 7 (3), 131–136. Dunn, M., Burbine, T., Bowers, C., Tantleff-Dunn, S., 2001. Moderators of stress in parents of children with autism. Community Mental Health Journal 37, 39–52. Eaves, L.C., Ho, H.H., 2004. The very early identification of autism: outcome to age 41/2–5. Journal of Autism and Developmental Disorders 34, 367–378. Eriksson, A.S., DeChãteau, P., 1992. A girl two years and seven months with autistic disorder videotaped from birth. Journal of Autism and Developmental Disorders 22, 127–129. Frazier, T.W., Youngstrom, E.A., Speer, L., Embacher, R., Law, P., Constantino, J., Findling, R.L., Hardan, A.Y., Eng, C., 2012. Validation of proposed DSM-5 criteria for autism spectrum disorder. Journal of the American Academy of Child & Adolescent Psychiatry 51, 28–40. Garrecht, M., Austin, D.W., 2011. The plausibility of a role of mercury in the etiology of autism: a cellular prospective. Toxicological and Environmental Chemistry 93, 621–634.
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Please cite this article in press as: Matson, J.L., Goldin, R.L., Diagnosing young children with autism. Int. J. Dev. Neurosci. (2014), http://dx.doi.org/10.1016/j.ijdevneu.2014.02.003
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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
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Article history: Received 23 December 2013 Received in revised form 22 February 2014 Accepted 23 February 2014 Keywords: Autism Diagnosis Young children
a b s t r a c t The starting point for any research on Autism Spectrum Disorder (ASD) involves the identification of people who evince the condition. From this point follows research on symptom presentation, genetics, epidemiology, animal models, treatment efficacy, and many other important topics. Major advances have 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 on this topic. © 2014 ISDN. Published by Elsevier Ltd. All rights reserved.
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 established (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 during 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 environments, 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 methods 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 condition 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 behaviors 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, anxiety 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 underscores 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 testing 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. E-mail address: [email protected] (R.L. Goldin).
The advent of Early Intensive Behavioral Intervention has put considerable pressure on clinicians to diagnose at younger and
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Please cite this article in press as: Matson, J.L., Goldin, R.L., Diagnosing young children with autism. Int. J. Dev. Neurosci. (2014), http://dx.doi.org/10.1016/j.ijdevneu.2014.02.003
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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 treatment. 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 concern” (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). Additionally, 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 something is wrong very early, prior to two year of age (Chakrabarti, 2009; De Giacomo and Fombonne, 1998). However, early on parents 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 communication 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, diagnosis 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 parents 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. Additionally, 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 detection, 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.
ASD symptoms are present by the time the child reaches one year of age in many cases (a subset of children develop fairly normally until about two years of age and then “regress” into full blown autism; Chakrabarti, 2009; Kishore and Basu, 2011). Similarly, 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 problems are also present but emerge later. Common difficulties the child may display include ADHD, anxiety disorder, obsessive compulsive 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, individuals 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 initial 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 important 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 inaccurate 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 professionals consulted, the more dissatisfaction the parents report with the process. What may be more surprising is that parents had the fortitude 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.
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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 having 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 contact. 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 recommendations 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-bystep algorithm to follow depending on the answers provided by parents. The American Academy of Pediatrics stress that the pediatrician should ask parents about any developmental concerns at every well-child visit. If parental concerns are raised, it is recommended 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 pediatricians 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 distinctions (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 symptoms (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 psychopathology 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 treatment 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 procedures. 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 BISCUIT, 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 observation/interactive measure composed of 4 modules graded according to language and developmental level. This design allows the measure 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 predecessor 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 instruments have improved markedly in the last decade, both for early diagnosis and for life long assessment. Also, the general awareness 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 diagnosis internationally a great deal. DSM-5 was published in 2013 amid great controversy, no more so than for the ASD diagnosis. 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 committee 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 Syndrome (Mayes et al., 2014; McPartland et al., 2012). This issue is compounded by the fact that the European version of DSM-5, the
Please cite this article in press as: Matson, J.L., Goldin, R.L., Diagnosing young children with autism. Int. J. Dev. Neurosci. (2014), http://dx.doi.org/10.1016/j.ijdevneu.2014.02.003
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World Health Organization - ICD-10 plans to stick with the criteria established in DSM-IV. Thus, international studies will be more difficult since the definition of ASD will be so different. Further compounding 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 neuroimaging 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. References Baghdadli, A., Picot, M.C., Pascal, C., Pry, R., Aussilloux, C., 2003. Relationship between age of recognition of first disturbances and severity in young children with autism. European Child & Adolescent Psychiatry 12 (3), 122–127. Baird, G., Slonims, V., Cass, H., 2003. Diagnosis of autism. British Medical Journal (International Edition) 327 (7413), 488–493. Baird, G., Simonoff, E., Pickles, A., Chandler, S., Loucas, T., Meldrum, D., Charman, T., 2006. Prevalence of disorders of the autism spectrum in a population cohort of children in South Thames: the Special Needs and Autism Project (SNAP). Lancet 368, 210–215. Baranek, G.T., Barnett, C., Adams, E., Wolcott, N., Watson, L., Crais, E., 2005. Object play in infants with autism: methodological issues in retrospective video analysis. The American Journal of Occupational Therapy 59, 20–30. Bodfish, J.W., Symons, F.J., Parker, D.E., Lewis, M.H., 2000. Varieties of repetitive behavior in autism: comparisons to mental retardation. Journal of Autism and Developmental Disorders 30, 237–243. Boyd, B., 2002. Examining the relationship between stress and lack of social support in mothers of children with autism. Focus on Autism and Other Developmental Disabilities 17, 208–215. Carcani-Rathwell, I., Rabe-Hasketh, S., Santosh, P.J., 2006. Repetitive and stereotyped behaviours in pervasive developmental disorders. Journal of Child Psychology and Psychiatry 47, 573–581. Causin, K.G., Albert, K.M., Carbone, V.J., Sweeney-Kerwin, E.J., 2013. The role of joint control in teaching listener responding to children with autism and other developmental disabilities. Research in Autism Spectrum Disorders 7, 997–1011. Chakrabarti, S., 2009. Early identification of autism. Indian Pediatrics 46, 412–414. Charman, T., Baird, G., 2002. Practitioner review: diagnosis of autism spectrum disorder in 2- and 3-year-old children. Journal of Child Psychology and Psychiatry 43 (3), 289–305. Chawarska, K., 2007. Parental recognition of developmental problems in toddlers with autism spectrum disorders. Journal of Autism & Developmental Disorders 37 (1), 62–72. Chawarska, K., Klin, A., Paul, R., Volkmar, F., 2007. Autism spectrum disorder in the second year: stability and change in syndrome expression. Journal of Child Psychology and Psychiatry 48, 128–138. Chauhan, A., Chauhan, V., 2006. Oxidative stress in autism. Pathophysiology 13, 171–181. Colgan, S.E., Lanter, E., McComish, C., Watson, L.R., Crais, E.R., 2006. Analysis of social interaction gestures in infants with autism. Child Neuropsychology 12, 307–319. De Giacomo, A., Fombonne, E., 1998. Parental recognition of developmental abnormalities in autism. European Child & Adolescent Psychiatry 7 (3), 131–136. Dunn, M., Burbine, T., Bowers, C., Tantleff-Dunn, S., 2001. Moderators of stress in parents of children with autism. Community Mental Health Journal 37, 39–52. Eaves, L.C., Ho, H.H., 2004. The very early identification of autism: outcome to age 41/2–5. Journal of Autism and Developmental Disorders 34, 367–378. Eriksson, A.S., DeChãteau, P., 1992. A girl two years and seven months with autistic disorder videotaped from birth. Journal of Autism and Developmental Disorders 22, 127–129. Frazier, T.W., Youngstrom, E.A., Speer, L., Embacher, R., Law, P., Constantino, J., Findling, R.L., Hardan, A.Y., Eng, C., 2012. Validation of proposed DSM-5 criteria for autism spectrum disorder. Journal of the American Academy of Child & Adolescent Psychiatry 51, 28–40. Garrecht, M., Austin, D.W., 2011. The plausibility of a role of mercury in the etiology of autism: a cellular prospective. Toxicological and Environmental Chemistry 93, 621–634.
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