User:SJK/ASD bibliography

Bibliography of interesting sources on the topic of autism spectrum disorder. I hope that I might be able to insert some of these references into one or more articles (although that depends on whether other editors let me do it).

Validity of DSM/ICD diagnoses in general

 * "That DSM-5 is a less than ideal approach to clinical diagnosis is evident. It is purely phenomenological and largely arbitrary, and not based on valid etiological concepts or mechanisms of illness or genetic predispositions"
 * "Psychiatric diagnostic manuals such as the DSM and ICD (chapter 5) are not works of objective science, but rather works of culture since they have largely been developed through clinical consensus and voting. Their validity and clinical utility is therefore highly questionable..."
 * ""An effective clinician... must not worship at the altar of diagnosis, because in real life patients do not fit neatly into diagnostic categories"
 * "The revision effort leading to the publication of the fifth edition of the American Psychiatric Association's Diagnostic and Statistical Manual of Mental Disorders (DSM-5) was flawed in process, goals and outcome. The revision process suffered from lack of an adequate public record of the rationale for changes, thus shortchanging future scholarship. The goals, such as dimensionalising diagnosis, incorporating biomarkers and separating impairment from diagnosis, were ill-considered and mostly abandoned. However, DSM-5's greatest problem, and the target of the most vigorous and sustained criticism, was its failure to take seriously the false positives problem. By expanding diagnosis beyond plausible boundaries in ways inconsistent with DSM-5's own definition of disorder, DSM-5 threatened the validity of psychiatric research, including especially psychiatric epidemiology..."
 * ""An effective clinician... must not worship at the altar of diagnosis, because in real life patients do not fit neatly into diagnostic categories"
 * "The revision effort leading to the publication of the fifth edition of the American Psychiatric Association's Diagnostic and Statistical Manual of Mental Disorders (DSM-5) was flawed in process, goals and outcome. The revision process suffered from lack of an adequate public record of the rationale for changes, thus shortchanging future scholarship. The goals, such as dimensionalising diagnosis, incorporating biomarkers and separating impairment from diagnosis, were ill-considered and mostly abandoned. However, DSM-5's greatest problem, and the target of the most vigorous and sustained criticism, was its failure to take seriously the false positives problem. By expanding diagnosis beyond plausible boundaries in ways inconsistent with DSM-5's own definition of disorder, DSM-5 threatened the validity of psychiatric research, including especially psychiatric epidemiology..."
 * "The revision effort leading to the publication of the fifth edition of the American Psychiatric Association's Diagnostic and Statistical Manual of Mental Disorders (DSM-5) was flawed in process, goals and outcome. The revision process suffered from lack of an adequate public record of the rationale for changes, thus shortchanging future scholarship. The goals, such as dimensionalising diagnosis, incorporating biomarkers and separating impairment from diagnosis, were ill-considered and mostly abandoned. However, DSM-5's greatest problem, and the target of the most vigorous and sustained criticism, was its failure to take seriously the false positives problem. By expanding diagnosis beyond plausible boundaries in ways inconsistent with DSM-5's own definition of disorder, DSM-5 threatened the validity of psychiatric research, including especially psychiatric epidemiology..."
 * "The revision effort leading to the publication of the fifth edition of the American Psychiatric Association's Diagnostic and Statistical Manual of Mental Disorders (DSM-5) was flawed in process, goals and outcome. The revision process suffered from lack of an adequate public record of the rationale for changes, thus shortchanging future scholarship. The goals, such as dimensionalising diagnosis, incorporating biomarkers and separating impairment from diagnosis, were ill-considered and mostly abandoned. However, DSM-5's greatest problem, and the target of the most vigorous and sustained criticism, was its failure to take seriously the false positives problem. By expanding diagnosis beyond plausible boundaries in ways inconsistent with DSM-5's own definition of disorder, DSM-5 threatened the validity of psychiatric research, including especially psychiatric epidemiology..."
 * "The revision effort leading to the publication of the fifth edition of the American Psychiatric Association's Diagnostic and Statistical Manual of Mental Disorders (DSM-5) was flawed in process, goals and outcome. The revision process suffered from lack of an adequate public record of the rationale for changes, thus shortchanging future scholarship. The goals, such as dimensionalising diagnosis, incorporating biomarkers and separating impairment from diagnosis, were ill-considered and mostly abandoned. However, DSM-5's greatest problem, and the target of the most vigorous and sustained criticism, was its failure to take seriously the false positives problem. By expanding diagnosis beyond plausible boundaries in ways inconsistent with DSM-5's own definition of disorder, DSM-5 threatened the validity of psychiatric research, including especially psychiatric epidemiology..."

Validity of ASD in particular

 * "Waterhouse et al. [2016] do not claim to present a meta‐analysis, and indeed the empirical evidence reviewed is highly selective and in many respects overly simplified. However, these shortcomings are not crucial, as the cited evidence sufficiently demonstrates inconsistencies in empirical findings that the authors suggest indicate a lack of neurobiological validity of the construct of ‘autism spectrum disorder’. The attempt to raise awareness is laudable, but while the conclusions are radical, the underlying insight is not particularly novel..."
 * Reviews:
 * "The DSM-3 provided reliability of diagnosis, but without attention to etiology or pathophysiology. The DSM-3 was created by utilizing the ‘wise professor model’, with one influential physician describing and classifying his patients and, from that, creating categorical diagnoses. Efforts to validate these diagnoses have been disappointing."
 * "Nosological constructs such as phenotype, diagnosis, and syndromes are manmade tools that can be useful for various tasks but should not be thought of as absolute truth... DSM diagnoses frequently tell us little about etiology, lack biological markers, have widely varying and poorly predictable prognoses, have multiple comorbidities (often outweighing the clinical significance of the original diagnosis), merge into other disorders or into neurotypicality and therefore lack clear boundaries between disease and health or between disorders, lack rigor in their description of symptoms, and are not predictably responsive to treatments."
 * "Perhaps more pernicious is the widespread reification (making something real, absent of evidence) of these diagnoses, creating premature closure of debate on the quality of the diagnosis and facilitating false premises on which research is conducted..."
 * Reviews:
 * "The DSM-3 provided reliability of diagnosis, but without attention to etiology or pathophysiology. The DSM-3 was created by utilizing the ‘wise professor model’, with one influential physician describing and classifying his patients and, from that, creating categorical diagnoses. Efforts to validate these diagnoses have been disappointing."
 * "Nosological constructs such as phenotype, diagnosis, and syndromes are manmade tools that can be useful for various tasks but should not be thought of as absolute truth... DSM diagnoses frequently tell us little about etiology, lack biological markers, have widely varying and poorly predictable prognoses, have multiple comorbidities (often outweighing the clinical significance of the original diagnosis), merge into other disorders or into neurotypicality and therefore lack clear boundaries between disease and health or between disorders, lack rigor in their description of symptoms, and are not predictably responsive to treatments."
 * "Perhaps more pernicious is the widespread reification (making something real, absent of evidence) of these diagnoses, creating premature closure of debate on the quality of the diagnosis and facilitating false premises on which research is conducted..."
 * "The DSM-3 provided reliability of diagnosis, but without attention to etiology or pathophysiology. The DSM-3 was created by utilizing the ‘wise professor model’, with one influential physician describing and classifying his patients and, from that, creating categorical diagnoses. Efforts to validate these diagnoses have been disappointing."
 * "Nosological constructs such as phenotype, diagnosis, and syndromes are manmade tools that can be useful for various tasks but should not be thought of as absolute truth... DSM diagnoses frequently tell us little about etiology, lack biological markers, have widely varying and poorly predictable prognoses, have multiple comorbidities (often outweighing the clinical significance of the original diagnosis), merge into other disorders or into neurotypicality and therefore lack clear boundaries between disease and health or between disorders, lack rigor in their description of symptoms, and are not predictably responsive to treatments."
 * "Perhaps more pernicious is the widespread reification (making something real, absent of evidence) of these diagnoses, creating premature closure of debate on the quality of the diagnosis and facilitating false premises on which research is conducted..."
 * "The DSM-3 provided reliability of diagnosis, but without attention to etiology or pathophysiology. The DSM-3 was created by utilizing the ‘wise professor model’, with one influential physician describing and classifying his patients and, from that, creating categorical diagnoses. Efforts to validate these diagnoses have been disappointing."
 * "Nosological constructs such as phenotype, diagnosis, and syndromes are manmade tools that can be useful for various tasks but should not be thought of as absolute truth... DSM diagnoses frequently tell us little about etiology, lack biological markers, have widely varying and poorly predictable prognoses, have multiple comorbidities (often outweighing the clinical significance of the original diagnosis), merge into other disorders or into neurotypicality and therefore lack clear boundaries between disease and health or between disorders, lack rigor in their description of symptoms, and are not predictably responsive to treatments."
 * "Perhaps more pernicious is the widespread reification (making something real, absent of evidence) of these diagnoses, creating premature closure of debate on the quality of the diagnosis and facilitating false premises on which research is conducted..."

Philosophy of psychiatry

 * Berend Verhoeff is a Psychiatrist and Philosopher of Science from the Netherlands
 * See also his 2015 PhD dissertation "Autism's anatomy: A dissection of the structure and development of a psychiatric concept":
 * See also his 2015 PhD dissertation "Autism's anatomy: A dissection of the structure and development of a psychiatric concept":

Fractionablity of the autism triad/dyad

 * "The suggestion that the different aspects of the ASD triad have fractionable causes, at the genetic, neurological, and cognitive levels, is sometimes taken as an attack on the validity of the diagnosis of autism (see Mandy and Skuse 2008 for discussion). However, it is quite compatible to assert that ASD results when a number of independent impairments co-occur, and to assert that the resulting mix has a special quality, distinct prognosis and response to intervention, and is therefore worthy of a distinct diagnostic label."
 * "Secondly, although the current literature suggests only a moderate correlation between social-commun- ication and nonsocial behaviours, this is not the same as there being no association at all, and we should not throw the baby out with the bath water. Ronald and colleagues suggest that this correlation (r) lies somewhere in the region of .3. Leaving aside methodological concerns, it is the case that a correlation in psychology of this magnitude is often taken to be meaningful. For example, correlations between goal conflicts and ill health (Emmons & King, 1988), trait positive affectivity and job satisfaction (Agho, Mueller, & Price, cited in Warr, 1996) and use of primitive defence mechanisms and anti-social per- sonality traits (Chabrol & Leichsenring, 2006) have all been reported to be in this range. That RIBAs are not universal in people with social communication disorders should not obscure the fact that these two sets of behaviours are moderately, and perhaps meaningfully, related."
 * (Question: how does the correlation between autism domains compare to the correlation between autism and frequently co-occurring non-autism symptoms, e.g. ADHD symptoms?)
 * "Existing models of autism spectrum disorder (ASD) disagree as to whether the core features should be conceptualized as convergent (related) or divergent (unrelated), and the few previous studies addressing this question have found conflicting results. We examined standardized parent ratings of symptoms from three domains (social, communication, repetitive behaviors) in large samples of typically developing children, children with ASD, and ASD subgroups. Our results suggest that the most evidence for divergence lies in typically developing children and lower severity ASD cases, while more evidence for convergence is found in a subset of cases with more severe impairment on any core feature. These results highlight the importance of subgrouping ASD given the degree of phenotypic heterogeneity present across the autism spectrum."
 * (Question: how does the correlation between autism domains compare to the correlation between autism and frequently co-occurring non-autism symptoms, e.g. ADHD symptoms?)
 * "Existing models of autism spectrum disorder (ASD) disagree as to whether the core features should be conceptualized as convergent (related) or divergent (unrelated), and the few previous studies addressing this question have found conflicting results. We examined standardized parent ratings of symptoms from three domains (social, communication, repetitive behaviors) in large samples of typically developing children, children with ASD, and ASD subgroups. Our results suggest that the most evidence for divergence lies in typically developing children and lower severity ASD cases, while more evidence for convergence is found in a subset of cases with more severe impairment on any core feature. These results highlight the importance of subgrouping ASD given the degree of phenotypic heterogeneity present across the autism spectrum."
 * "Existing models of autism spectrum disorder (ASD) disagree as to whether the core features should be conceptualized as convergent (related) or divergent (unrelated), and the few previous studies addressing this question have found conflicting results. We examined standardized parent ratings of symptoms from three domains (social, communication, repetitive behaviors) in large samples of typically developing children, children with ASD, and ASD subgroups. Our results suggest that the most evidence for divergence lies in typically developing children and lower severity ASD cases, while more evidence for convergence is found in a subset of cases with more severe impairment on any core feature. These results highlight the importance of subgrouping ASD given the degree of phenotypic heterogeneity present across the autism spectrum."

Overdiagnosis

 * "...despite our best efforts to tame excessive diagnostic exuberance, DSM-IV had since been misused to blow up the diagnostic bublle. Even though we had been boringly modest in our goals, obsessively meticulous in our methods, and rigidly conservative in our product, we failed to predict or prevent three new false epidemics of mental disorder in children–autism, attention deficit, and childhood bipolar disorder."
 * Allen Frances quotes: "Probably the biggest mistake we made in DSM-IV was including Asperger’s, a much milder form of autistic disorder with unclear boundaries to normal diversity, eccentricity and giftedness... Careless diagnosis, often related to requirements for extra school services, resulted in a fake epidemic — a 50-fold increase in the past 25 years... "
 * About this journal article:
 * Same journal article also discussed by
 * Overdiagnosis and diagnosis of increasingly mild cases may result in a reduction of focus on those with the most severe symptoms, to the later's detriment –
 * "In my experience as a child and adolescent psychiatrist, it is apparent there is an over-diagnosis problem. In addition, there are still children, particularly girls, whose ASD diagnosis is tragically missed until late in their development and schooling. Many child psychiatrist and paediatrician colleagues offer similar observations."
 * Overdiagnosis and diagnosis of increasingly mild cases may result in a reduction of focus on those with the most severe symptoms, to the later's detriment –
 * "In my experience as a child and adolescent psychiatrist, it is apparent there is an over-diagnosis problem. In addition, there are still children, particularly girls, whose ASD diagnosis is tragically missed until late in their development and schooling. Many child psychiatrist and paediatrician colleagues offer similar observations."
 * "In my experience as a child and adolescent psychiatrist, it is apparent there is an over-diagnosis problem. In addition, there are still children, particularly girls, whose ASD diagnosis is tragically missed until late in their development and schooling. Many child psychiatrist and paediatrician colleagues offer similar observations."

Boundary with other conditions
Some argue that ASD as a diagnosis has unclear and variable boundaries with other conditions which have overlapping symptoms – ADHD, OCD, Tourette's, schizophrenia, IDD

with ADHD

 * Table 1 is particularly interesting – "hyperfocus" is recognised as a symptom of ADHD, ASD, and schizophrenia, and yet (contradicting that) some authors present it as a differential symptom which is present in ASD but not in ADHD
 * "Of the ADHD sample, 21 % met ASD cut-offs on the ADOS and 30 % met ASD cut-offs on all domains of the ADI-R". (Note the ADHD sample is children diagnosed with ADHD but for whom ASD has been clinically excluded.)
 * "The validity of diagnostic labels of autism spectrum disorder (ASD), attention-deficit/hyperactivity disorder (ADHD), and obsessive compulsive disorder (OCD) is an open question given the mounting evidence that these categories may not correspond to conditions with distinct etiologies, biologies, or phenotypes"
 * "Our results did not support the validity of existing diagnostic labels of ASD, ADHD, and OCD as distinct entities with respect to phenotype and cortical morphology"
 * "The validity of diagnostic labels of autism spectrum disorder (ASD), attention-deficit/hyperactivity disorder (ADHD), and obsessive compulsive disorder (OCD) is an open question given the mounting evidence that these categories may not correspond to conditions with distinct etiologies, biologies, or phenotypes"
 * "Our results did not support the validity of existing diagnostic labels of ASD, ADHD, and OCD as distinct entities with respect to phenotype and cortical morphology"
 * "Our results did not support the validity of existing diagnostic labels of ASD, ADHD, and OCD as distinct entities with respect to phenotype and cortical morphology"

Accuracy of diagnostic instruments

 * Examines how well diagnostic instruments (ADOS-2, DISCO-11, 3di) align with DSM-5 criteria
 * "Our analyses showed that the three instruments do not cover all ASD symptoms to the same extent and that their diagnostic classification procedures are not always in line with the DSM-5 ASD criteria. Furthermore, the interpretation of the DSM-5 behavioral A (‘Deficits in social communication and interac- tions’) and B (‘Restricted and repetitive behavior, interests, and activities’) criteria is sometimes ambiguous and the other criteria (C—‘Early onset’, D—‘Significant impact on daily life functioning’, and E—‘Not better explained by other developmental diagnosis’) are not clearly defined."
 * "Our analyses showed that the three instruments do not cover all ASD symptoms to the same extent and that their diagnostic classification procedures are not always in line with the DSM-5 ASD criteria. Furthermore, the interpretation of the DSM-5 behavioral A (‘Deficits in social communication and interac- tions’) and B (‘Restricted and repetitive behavior, interests, and activities’) criteria is sometimes ambiguous and the other criteria (C—‘Early onset’, D—‘Significant impact on daily life functioning’, and E—‘Not better explained by other developmental diagnosis’) are not clearly defined."

ADOS/-2

 * "High variance was found in the codings. The accuracy of the coding depends on the experience of the coder with the ADOS as well as on characteristics of the cases and the quality of the administration of the ADOS"
 * "There is an obvious symptom overlap between ASD and emotional and anxiety disorders documented by several studies [24, 52–56]. Both disorders involve profound social interaction and communication deficits, problems in emotion recognition, insistence on sameness, inflexible adherence to routines, or ritualized patterns or verbal/non-verbal behaviour. 30% of children with an anxiety disorder (but no known diagnosis of ASD) were above the cutoff of the ADI-R in at least one domain [57]. Other disorders are likewise associated with “autistic traits” of profound amount, such as ADHD, conduct disorders, intellectual impairment, and language disorders (see above). The degree of overlap between the above-mentioned disorders and ASD may result in misinterpretation of symptoms and in high scores in the ADOS/-2, respectively. In clinical samples, the specificity of the ADOS/-2 is lower than in research settings [32, 46, 58, 59], with high levels of false-positive diagnoses. In our study, the clinicians made many more false-positive than false-negative ADOS diagnoses."
 * "...examiners and entire clinical teams tend to ‘drift’ with their ADOS codings. Thus, it is important to be involved in calibration with different teams and organisations"
 * A 2018 Cochrane systematic review included 12 studies of ADOS diagnostic accuracy in pre-school children (Modules 1 and 2). The summary sensitivity was 0.94 (95% CI 0.89 to 0.97), with sensitivity in individual studies ranging from 0.76 to 0.98. The summary specificity was 0.80 (95% CI 0.68 to 0.88), with specificity in individual studies ranging from 0.20 to 1.00. The studies were evaluated for bias using the QUADAS-2 framework; of the 12 included studies, 8 were evaluated as having a high risk of bias, while for the remaining four there was insufficient information available for the risk of bias to be properly evaluated. The authors could not identify any studies for the ADOS-2; the scope of the review was limited to preschool age children (mean age under 6 years), which excluded studies of Modules 3 and 4 from the meta-analysis. One included study examined the additive sensitivity and specificity of the ADOS used in combination with the ADI-R; that study found an 11% improvement in specificity (compared to ADOS alone) at the cost of a 14% reduction in sensitivity; however, due to overlapping confidence intervals, that result could not be considered statistically significant.
 * A 2018 Cochrane systematic review included 12 studies of ADOS diagnostic accuracy in pre-school children (Modules 1 and 2). The summary sensitivity was 0.94 (95% CI 0.89 to 0.97), with sensitivity in individual studies ranging from 0.76 to 0.98. The summary specificity was 0.80 (95% CI 0.68 to 0.88), with specificity in individual studies ranging from 0.20 to 1.00. The studies were evaluated for bias using the QUADAS-2 framework; of the 12 included studies, 8 were evaluated as having a high risk of bias, while for the remaining four there was insufficient information available for the risk of bias to be properly evaluated. The authors could not identify any studies for the ADOS-2; the scope of the review was limited to preschool age children (mean age under 6 years), which excluded studies of Modules 3 and 4 from the meta-analysis. One included study examined the additive sensitivity and specificity of the ADOS used in combination with the ADI-R; that study found an 11% improvement in specificity (compared to ADOS alone) at the cost of a 14% reduction in sensitivity; however, due to overlapping confidence intervals, that result could not be considered statistically significant.
 * A 2018 Cochrane systematic review included 12 studies of ADOS diagnostic accuracy in pre-school children (Modules 1 and 2). The summary sensitivity was 0.94 (95% CI 0.89 to 0.97), with sensitivity in individual studies ranging from 0.76 to 0.98. The summary specificity was 0.80 (95% CI 0.68 to 0.88), with specificity in individual studies ranging from 0.20 to 1.00. The studies were evaluated for bias using the QUADAS-2 framework; of the 12 included studies, 8 were evaluated as having a high risk of bias, while for the remaining four there was insufficient information available for the risk of bias to be properly evaluated. The authors could not identify any studies for the ADOS-2; the scope of the review was limited to preschool age children (mean age under 6 years), which excluded studies of Modules 3 and 4 from the meta-analysis. One included study examined the additive sensitivity and specificity of the ADOS used in combination with the ADI-R; that study found an 11% improvement in specificity (compared to ADOS alone) at the cost of a 14% reduction in sensitivity; however, due to overlapping confidence intervals, that result could not be considered statistically significant.


 * T. Hutchins, H. Morris and S. Habermehl, Diagnostic Accuracy of the ADOS-2, Poster Presentation 29391, INSAR 2019 Annual Meeting.
 * "Overall accuracy across modules was 70.4% (sensitivity = 90.9%; specificity = 66.0%) with a high rate of false positives (27.9%). Overall accuracy tended to decrease as module number increased (module 1 = 90.9%; module 2 = 93.9%; module 3 = 62.5%; module 4 = 58.8%). The most common non-spectrum diagnosis for children classified as ASD by the ADOS-2 for modules 2 – 4 (approximately 88%) was ADHD and anxiety. "

Cognitive rigidity
While cognitive rigidity (low levels of cognitive flexibility) is often associated with ASD (as a symptom in the RRB domain), it is not a unique symptom to ASD and also occurs in other disorders and "typical" individuals:



Miscellaneous

 * "Recently, however, I have begun to question my total allegiance to the diktat that a diagnosis of ASD is helpful"
 * "I am currently undertaking a doctoral study into the impact on parents when, unexpectedly, their child is given a diagnosis of ASD. Mostly, the parents have been looking for practical support in developing their child’s language skills and have not anticipated ASD. In three cases I have been researching in depth, the diagnosis of ASD has had a largely devastating impact on the parents, disempowering them by causing them to question their ability to interact with and provide for their child without specialist training, even though they were doing an excellent job up to the time of diagnosis. The term ‘Autistic Spectrum Disorder’ causes them to rethink completely their child’s potential future, making them fearful of what lies ahead. Through talking with others and through their reading, the parents become unsure of how their child will be in the future; one family who had a very cooperative young son began to become highly anxious that he would, in the future, develop severely non-cooperative behaviours like children they read about in textbooks. I have seen that the label becomes more significant than the nature of the child"
 * "parents report that they feel ‘blackmailed’ into diagnosis"
 * "I became increasingly uncomfortable with the extent to which giving diagnostic labels reinforces a system of provision that is about recycling the potency of professionals and the impotency of parents in the lives of vulnerable children"
 * "parents report that they feel ‘blackmailed’ into diagnosis"
 * "I became increasingly uncomfortable with the extent to which giving diagnostic labels reinforces a system of provision that is about recycling the potency of professionals and the impotency of parents in the lives of vulnerable children"