EDITORIAL
Sunsetting DSM-IV’s Pervasive Developmental Disorder Bryan H. King,
O
n one occasion early during my training, my colleagues and I were fortunate to be able to obtain consultation on a very challenging case—an inpatient who was presenting with a mixture of mood and psychotic symptoms and who was not responding to treatment. After a thorough evaluation, the senior faculty member, internationally known for his work in the field, declared: “I don’t know what disorder this patient has exactly, but whatever he has, I am certain that he has a very bad case of it.” In a similar vein, Dennis Cantwell,1 a pioneer in child psychiatry who was instrumental in the development of the DSM-III (even to the detail of ensuring that the color of the book honored his alma mater, Notre Dame), used to lament that although we were in an era of increasingly sophisticated molecular genetic capabilities, we were unfortunately stuck with “bow and arrow diagnoses.” He believed that the subjectivity in diagnosis was a significant contributor to the difficulty of identifying genes responsible for psychiatric disorders. Defining disorders in psychiatry and improving the diagnostic approach for autism in particular has long been recognized as an important task and should be informed by and contribute not only to our understanding of underlying disease processes but also to prognosis and effective treatment.1,2 Accurate diagnosis provides a common language by which we can communicate with each other and through which our patients can be directed to educational and other resources to better understand their condition and its consequences. It is not going to be helpful to share with a family that they have a very bad case of something that we do not recognize. It is just as unhelpful to spend hours fussing over distinctions that are not going to advance the care or understanding of the patient. The argument over whether an individual has
494
www.jaacap.org
MD
Asperger disorder or pervasive developmental disorder not otherwise specified (PDD-NOS) may be likened, for some individuals, to trying to classify a sunset as orange or red. At the end of the day, it is a sunset. Ironically, in recent years, the diagnosis of PDD-NOS became the dominant diagnosis in the autism spectrum. This residual diagnosis existed without formal criteria, which may have contributed to its appeal. For the most part, the field was going with “sunset” in lieu of specific colors available within DSM-IV PDD. In parallel, it also became clear that when it came to making those distinctions between shades of orange or red in the autism spectrum, that even our experts could not agree. Lord et al.,3 for example, showed that the diagnosis of Asperger disorder or PDD-NOS was more influenced by where one was evaluated than by the actual symptoms with which he presented. In addition, a meta-analysis by Rondeau et al.4 showed that the diagnosis of PDD-NOS changed over time for the same person. Specifically, only 35% of 122 individuals with an initial diagnosis of PDD-NOS actually kept that diagnosis when reassessed after 12 to 84 months. Most (61%) of those who “lost” their diagnosis of PDD-NOS migrated into the diagnosis of autistic disorder. The remainder received another, “non-PDD,” diagnosis. The same sunset could transition from orange to red, or another color altogether, if it was observed over time. With the advent of the DSM-5, however, there have been important and valid concerns raised about potential consequences for our ability to monitor and track prevalence, to understand longitudinal research, and to connect with the existing literature on treatment going forward.5 There is obviously considerable interest in the impact that the DSM-5 will have on autism prevalence, where the boundaries will be drawn around the newly defined autism spectrum, and
JOURNAL
OF THE
AMERICAN ACADEMY OF C HILD & ADOLESCENT PSYCHIATRY VOLUME 53 NUMBER 5 MAY 2014
EDITORIAL
how that will affect diagnoses for individuals with a DSM-IV PDD. Problems that characterized preliminary studies were that the full DSM-5 criteria were not available and criteria were applied retrospectively to datasets that were not necessarily designed to capture all the relevant criteria. Application of other DSM-5 diagnoses of potential relevance, for example, social communication disorder (SCD), were not examined. The article by Kim and colleagues6 in this month’s Journal is the first study to provide the opportunity to assess some of these issues. The investigators leveraged their very well-designed epidemiologic study that recently reported the prevalence of DSM-IV PDDs in an entire community in South Korea.7 Within this cohort, a representative sample of children who were previously identified with DSM-IV PDD diagnoses (autistic disorder, Asperger disorder, and PDDNOS) were formally reassessed using DSM-5 criteria for autism spectrum disorder (ASD) and SCD. Given the timing, the DSM-5 criteria that were used were not the criteria that were ultimately published. Specifically, the “by history” allowance for social communication and restricted, repetitive behaviors was a late change, and the investigators could not have known this at the time of the DSM-5–based assessments. It also does not appear as if the individuals who were the subject of a DSM-5–based assessment were also formally reassessed with DSM-IV criteria. Just as it is a fact that a recount of the votes in a close election always results in a new tally (and sometimes even a new winner), it is highly likely that the boundaries around some of the original DSM-IV diagnoses would have changed slightly—merely by a second look blinded to the original diagnosis. That did not happen here. Nevertheless, one finding from this study is that individuals with DSM-IV autistic disorder and Asperger disorder nearly all mapped into DSM-5 ASD, and virtually all the modest movement out of DSM-IV PDD occurred in individuals found in the generally higher functioning, lower service utilization, general population sample. Importantly, none of the individuals who did not transition into DSM-5 ASD was left without a diagnosis. Thus, to the extent that the sum of the prevalence of DSM-5 ASD and SCD in this study is equivalent to that of DSM-IV PDD, we can say with confidence that the total number of ballots in the box is virtually unchanged—that although there are some differences in total votes per
candidate with this recount, the boundaries around the population are not affected. To quote the researchers, “the combined prevalence of DSM-5 ASD þ SCD is virtually identical to that of the DSM-IV PDD for every category. These data provide essentially no support for the concerns that individuals affected with DSM-IV PDD will ‘lose a diagnosis’ with the advent of DSM-5.”6 The description of the population with SCD in this article is very important. This study is the first to move into this new diagnostic space. Here in particular, it would be nice to understand how the “by history” criterion for ASD might have affected the numbers of individuals assigned to SCD. The reality is that DSM-5 SCD was not intended to be on a “new spectrum” with ASD, and although we have our first glimpse at a potential prevalence for SCD (of 0.49% in this sample originally ascertained for PDD), we probably do not have the prevalence of SCD in the broader population. Reiersen et al.,8 for example, evaluated social deficits in a large twin sample with attention-deficit/hyperactivity disorder and observed that social communication deficits were common. Moreover, they found that among children with attention-deficit/hyperactivity disorder, girls were at least as likely to exhibit clinically significant social impairment as boys. Does the fact that Kim et al.6 found that SCD occurs equally in boys and girls support its existence as distinct from ASD? Another diagnostic criterion that is seldom explicitly discussed is impairment. It may be fair to ask how and when the impairment criterion gets factored into overall prevalence estimates in the future. In this study, the general population sample by definition was in a mainstream educational environment and not accessing any services. It is this group in which the greatest impact of the change to the DSM-5 seems to register, and although the DSM-IV and DSM-5 require clinically significant impairment for a diagnosis, it is not clear how this criterion is operationalized in studies like this one and going forward. So, taken together, it is comforting that this study suggests that we may not be worse off with the DSM-5 than with the DSM-IV with respect to having a diagnostic nosology that captures our population of interest. But are we better off? After all, might there be some value in recognizing that a particularly red sunset may be the result of more particulate matter in the atmosphere, and that there may actually be a difference relative to
JOURNAL OF THE AMERICAN ACADEMY OF C HILD & ADOLESCENT PSYCHIATRY VOLUME 53 NUMBER 5 MAY 2014
www.jaacap.org
495
KING
orange or violet? If we cleave off SCD from ASD, will that improve or further complicate our efforts to understand causation? The flipside, as suggested by this study, that some individuals with primarily attention-deficit/hyperactivity disorder or anxiety were finding themselves on the autism spectrum, may have similarly been an etiologic confound. If the treatment and prognosis for SCD are essentially no different than for the same symptoms in ASD, what is the value in cleaving off this group? One hopes that the answer is that SCD is more specific, with criteria, relative to PDD-NOS, and that this refinement will serve the field better going forward, but only time will tell. As a field it is clear that the dust is only beginning to settle out of the atmosphere and that the DSM-5 is just another round of successive approximations on our archery field. Genetic studies are challenging the boundaries not only within the autism spectrum but also between many of the major disorders that we identify and treat. It is a win for our patients if we can ensure their needs are met and more effectively move clinical care and research forward without being lost in how red the sunset is. Regardless of the color, when we see a sunset, we know that we need to prepare for the evening, have dinner, find
our pajamas, get a restful sleep, and get ready for another day. The authors of this study conclude with a statement that “in the final analysis, whether the label is PDD, ASD, or SCD, extant diagnostic criteria are helpful in identifying a relatively large, clinically meaningful group of individuals and families who deserve comprehensive evaluations and evidence-based treatments, as early as possible.” Amen. Sleep tight. Sunrise on DSM-5 is worth seeing. &
Accepted January 31, 2014. Dr. King is with Seattle Children’s Autism Center, the University of Washington, and Seattle Children’s Hospital. Disclosure: Dr. King has served as a consultant for Roche Pharmaceuticals and has received research funding from Roche Pharmaceuticals, Novartis, and the National Institutes of Health. He has served on the scientific advisory board of the Autism Science Foundation and on the professional advisory board of the Tuberous Sclerosis Alliance. Correspondence to Bryan H. King, MD, Professor and Vice Chair of Psychiatry and Behavioral Sciences, Director, Seattle Children’s Autism Center, Director of Child and Adolescent Psychiatry, University of Washington and Seattle Children’s Hospital, 4800 Sand Point Way NE, P.O. Box 5371/M1-1, Seattle, WA 98105; e-mail: bhking@u. washington.edu 0890-8567/$36.00/ª2014 American Academy of Child and Adolescent Psychiatry http://dx.doi.org/10.1016/j.jaac.2014.01.013
REFERENCES 1. Cantwell DP. Classification of child and adolescent psychopathology. J Child Psychol Psychiatry. 1996;37:3-12. 2. Buxbaum JD, Baron-Cohen S. DSM-5: the debate continues. Mol Autism. 2013;4:11. 3. Lord C, Petkova E, Hus V, et al. A multisite study of the clinical diagnosis of different autism spectrum disorders. Arch Gen Psychiatry. 2012;69:306-313. 4. Rondeau E, Klein LS, Masse A, Bodeau N, Cohen D, Guile JM. Is pervasive developmental disorder not otherwise specified less stable than autistic disorder? A meta-analysis. J Autism Dev Disord. 2011;41:1267-1276. 5. McPartland JC, Brian Reichow B, Volkmar FR. Sensitivity and specificity of proposed DSM-5 diagnostic criteria for autism
496
www.jaacap.org
spectrum disorder. J Am Acad Child Adolesc Psychiatry. 2012;51: 368-383. 6. Kim YS, Fombonne E, Koh Y-J, Kim S-J, Cheon K-A, Leventhal B. A comparison of DSM-IV PDD and DSM-5 ASD prevalence in an epidemiologic sample. J Am Acad Child Adolesc Psychiatry. 2014; 53:500-508. 7. Kim YS, Leventhal BL, Koh YJ, et al. Prevalence of autism spectrum disorders in a total population sample. Am J Psychiatry. 2011;168: 904-912. 8. Reiersen AM, Constantino JM, Volk HE, Todd RD. Autistic traits in a population-based ADHD twin sample. J Child Psychol Psychiatry. 2007;48:464-472.
JOURNAL
OF THE
AMERICAN ACADEMY OF C HILD & ADOLESCENT PSYCHIATRY VOLUME 53 NUMBER 5 MAY 2014
Sunsetting DSM-IV’s Pervasive Developmental Disorder Bryan H. King,
O
n one occasion early during my training, my colleagues and I were fortunate to be able to obtain consultation on a very challenging case—an inpatient who was presenting with a mixture of mood and psychotic symptoms and who was not responding to treatment. After a thorough evaluation, the senior faculty member, internationally known for his work in the field, declared: “I don’t know what disorder this patient has exactly, but whatever he has, I am certain that he has a very bad case of it.” In a similar vein, Dennis Cantwell,1 a pioneer in child psychiatry who was instrumental in the development of the DSM-III (even to the detail of ensuring that the color of the book honored his alma mater, Notre Dame), used to lament that although we were in an era of increasingly sophisticated molecular genetic capabilities, we were unfortunately stuck with “bow and arrow diagnoses.” He believed that the subjectivity in diagnosis was a significant contributor to the difficulty of identifying genes responsible for psychiatric disorders. Defining disorders in psychiatry and improving the diagnostic approach for autism in particular has long been recognized as an important task and should be informed by and contribute not only to our understanding of underlying disease processes but also to prognosis and effective treatment.1,2 Accurate diagnosis provides a common language by which we can communicate with each other and through which our patients can be directed to educational and other resources to better understand their condition and its consequences. It is not going to be helpful to share with a family that they have a very bad case of something that we do not recognize. It is just as unhelpful to spend hours fussing over distinctions that are not going to advance the care or understanding of the patient. The argument over whether an individual has
494
www.jaacap.org
MD
Asperger disorder or pervasive developmental disorder not otherwise specified (PDD-NOS) may be likened, for some individuals, to trying to classify a sunset as orange or red. At the end of the day, it is a sunset. Ironically, in recent years, the diagnosis of PDD-NOS became the dominant diagnosis in the autism spectrum. This residual diagnosis existed without formal criteria, which may have contributed to its appeal. For the most part, the field was going with “sunset” in lieu of specific colors available within DSM-IV PDD. In parallel, it also became clear that when it came to making those distinctions between shades of orange or red in the autism spectrum, that even our experts could not agree. Lord et al.,3 for example, showed that the diagnosis of Asperger disorder or PDD-NOS was more influenced by where one was evaluated than by the actual symptoms with which he presented. In addition, a meta-analysis by Rondeau et al.4 showed that the diagnosis of PDD-NOS changed over time for the same person. Specifically, only 35% of 122 individuals with an initial diagnosis of PDD-NOS actually kept that diagnosis when reassessed after 12 to 84 months. Most (61%) of those who “lost” their diagnosis of PDD-NOS migrated into the diagnosis of autistic disorder. The remainder received another, “non-PDD,” diagnosis. The same sunset could transition from orange to red, or another color altogether, if it was observed over time. With the advent of the DSM-5, however, there have been important and valid concerns raised about potential consequences for our ability to monitor and track prevalence, to understand longitudinal research, and to connect with the existing literature on treatment going forward.5 There is obviously considerable interest in the impact that the DSM-5 will have on autism prevalence, where the boundaries will be drawn around the newly defined autism spectrum, and
JOURNAL
OF THE
AMERICAN ACADEMY OF C HILD & ADOLESCENT PSYCHIATRY VOLUME 53 NUMBER 5 MAY 2014
EDITORIAL
how that will affect diagnoses for individuals with a DSM-IV PDD. Problems that characterized preliminary studies were that the full DSM-5 criteria were not available and criteria were applied retrospectively to datasets that were not necessarily designed to capture all the relevant criteria. Application of other DSM-5 diagnoses of potential relevance, for example, social communication disorder (SCD), were not examined. The article by Kim and colleagues6 in this month’s Journal is the first study to provide the opportunity to assess some of these issues. The investigators leveraged their very well-designed epidemiologic study that recently reported the prevalence of DSM-IV PDDs in an entire community in South Korea.7 Within this cohort, a representative sample of children who were previously identified with DSM-IV PDD diagnoses (autistic disorder, Asperger disorder, and PDDNOS) were formally reassessed using DSM-5 criteria for autism spectrum disorder (ASD) and SCD. Given the timing, the DSM-5 criteria that were used were not the criteria that were ultimately published. Specifically, the “by history” allowance for social communication and restricted, repetitive behaviors was a late change, and the investigators could not have known this at the time of the DSM-5–based assessments. It also does not appear as if the individuals who were the subject of a DSM-5–based assessment were also formally reassessed with DSM-IV criteria. Just as it is a fact that a recount of the votes in a close election always results in a new tally (and sometimes even a new winner), it is highly likely that the boundaries around some of the original DSM-IV diagnoses would have changed slightly—merely by a second look blinded to the original diagnosis. That did not happen here. Nevertheless, one finding from this study is that individuals with DSM-IV autistic disorder and Asperger disorder nearly all mapped into DSM-5 ASD, and virtually all the modest movement out of DSM-IV PDD occurred in individuals found in the generally higher functioning, lower service utilization, general population sample. Importantly, none of the individuals who did not transition into DSM-5 ASD was left without a diagnosis. Thus, to the extent that the sum of the prevalence of DSM-5 ASD and SCD in this study is equivalent to that of DSM-IV PDD, we can say with confidence that the total number of ballots in the box is virtually unchanged—that although there are some differences in total votes per
candidate with this recount, the boundaries around the population are not affected. To quote the researchers, “the combined prevalence of DSM-5 ASD þ SCD is virtually identical to that of the DSM-IV PDD for every category. These data provide essentially no support for the concerns that individuals affected with DSM-IV PDD will ‘lose a diagnosis’ with the advent of DSM-5.”6 The description of the population with SCD in this article is very important. This study is the first to move into this new diagnostic space. Here in particular, it would be nice to understand how the “by history” criterion for ASD might have affected the numbers of individuals assigned to SCD. The reality is that DSM-5 SCD was not intended to be on a “new spectrum” with ASD, and although we have our first glimpse at a potential prevalence for SCD (of 0.49% in this sample originally ascertained for PDD), we probably do not have the prevalence of SCD in the broader population. Reiersen et al.,8 for example, evaluated social deficits in a large twin sample with attention-deficit/hyperactivity disorder and observed that social communication deficits were common. Moreover, they found that among children with attention-deficit/hyperactivity disorder, girls were at least as likely to exhibit clinically significant social impairment as boys. Does the fact that Kim et al.6 found that SCD occurs equally in boys and girls support its existence as distinct from ASD? Another diagnostic criterion that is seldom explicitly discussed is impairment. It may be fair to ask how and when the impairment criterion gets factored into overall prevalence estimates in the future. In this study, the general population sample by definition was in a mainstream educational environment and not accessing any services. It is this group in which the greatest impact of the change to the DSM-5 seems to register, and although the DSM-IV and DSM-5 require clinically significant impairment for a diagnosis, it is not clear how this criterion is operationalized in studies like this one and going forward. So, taken together, it is comforting that this study suggests that we may not be worse off with the DSM-5 than with the DSM-IV with respect to having a diagnostic nosology that captures our population of interest. But are we better off? After all, might there be some value in recognizing that a particularly red sunset may be the result of more particulate matter in the atmosphere, and that there may actually be a difference relative to
JOURNAL OF THE AMERICAN ACADEMY OF C HILD & ADOLESCENT PSYCHIATRY VOLUME 53 NUMBER 5 MAY 2014
www.jaacap.org
495
KING
orange or violet? If we cleave off SCD from ASD, will that improve or further complicate our efforts to understand causation? The flipside, as suggested by this study, that some individuals with primarily attention-deficit/hyperactivity disorder or anxiety were finding themselves on the autism spectrum, may have similarly been an etiologic confound. If the treatment and prognosis for SCD are essentially no different than for the same symptoms in ASD, what is the value in cleaving off this group? One hopes that the answer is that SCD is more specific, with criteria, relative to PDD-NOS, and that this refinement will serve the field better going forward, but only time will tell. As a field it is clear that the dust is only beginning to settle out of the atmosphere and that the DSM-5 is just another round of successive approximations on our archery field. Genetic studies are challenging the boundaries not only within the autism spectrum but also between many of the major disorders that we identify and treat. It is a win for our patients if we can ensure their needs are met and more effectively move clinical care and research forward without being lost in how red the sunset is. Regardless of the color, when we see a sunset, we know that we need to prepare for the evening, have dinner, find
our pajamas, get a restful sleep, and get ready for another day. The authors of this study conclude with a statement that “in the final analysis, whether the label is PDD, ASD, or SCD, extant diagnostic criteria are helpful in identifying a relatively large, clinically meaningful group of individuals and families who deserve comprehensive evaluations and evidence-based treatments, as early as possible.” Amen. Sleep tight. Sunrise on DSM-5 is worth seeing. &
Accepted January 31, 2014. Dr. King is with Seattle Children’s Autism Center, the University of Washington, and Seattle Children’s Hospital. Disclosure: Dr. King has served as a consultant for Roche Pharmaceuticals and has received research funding from Roche Pharmaceuticals, Novartis, and the National Institutes of Health. He has served on the scientific advisory board of the Autism Science Foundation and on the professional advisory board of the Tuberous Sclerosis Alliance. Correspondence to Bryan H. King, MD, Professor and Vice Chair of Psychiatry and Behavioral Sciences, Director, Seattle Children’s Autism Center, Director of Child and Adolescent Psychiatry, University of Washington and Seattle Children’s Hospital, 4800 Sand Point Way NE, P.O. Box 5371/M1-1, Seattle, WA 98105; e-mail: bhking@u. washington.edu 0890-8567/$36.00/ª2014 American Academy of Child and Adolescent Psychiatry http://dx.doi.org/10.1016/j.jaac.2014.01.013
REFERENCES 1. Cantwell DP. Classification of child and adolescent psychopathology. J Child Psychol Psychiatry. 1996;37:3-12. 2. Buxbaum JD, Baron-Cohen S. DSM-5: the debate continues. Mol Autism. 2013;4:11. 3. Lord C, Petkova E, Hus V, et al. A multisite study of the clinical diagnosis of different autism spectrum disorders. Arch Gen Psychiatry. 2012;69:306-313. 4. Rondeau E, Klein LS, Masse A, Bodeau N, Cohen D, Guile JM. Is pervasive developmental disorder not otherwise specified less stable than autistic disorder? A meta-analysis. J Autism Dev Disord. 2011;41:1267-1276. 5. McPartland JC, Brian Reichow B, Volkmar FR. Sensitivity and specificity of proposed DSM-5 diagnostic criteria for autism
496
www.jaacap.org
spectrum disorder. J Am Acad Child Adolesc Psychiatry. 2012;51: 368-383. 6. Kim YS, Fombonne E, Koh Y-J, Kim S-J, Cheon K-A, Leventhal B. A comparison of DSM-IV PDD and DSM-5 ASD prevalence in an epidemiologic sample. J Am Acad Child Adolesc Psychiatry. 2014; 53:500-508. 7. Kim YS, Leventhal BL, Koh YJ, et al. Prevalence of autism spectrum disorders in a total population sample. Am J Psychiatry. 2011;168: 904-912. 8. Reiersen AM, Constantino JM, Volk HE, Todd RD. Autistic traits in a population-based ADHD twin sample. J Child Psychol Psychiatry. 2007;48:464-472.
JOURNAL
OF THE
AMERICAN ACADEMY OF C HILD & ADOLESCENT PSYCHIATRY VOLUME 53 NUMBER 5 MAY 2014
