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Diagnostic classification systems categorise mental psychopathology in mental disorders. Although these entities are clinical constructs developed by consensus, it has been pointed out that in practice they are usually managed as natural entities and without evaluating aspects related to their nosological construction. The objectives of the study are to review a) the conceptualisation of mental disorders, b) the indicators of validity, reliability and clinical utility, and c) the values of these indicators in ICD-11 schizophrenia. The results show that mental disorders are conceptualised as discrete entities, like the diseases of other areas of medicine; however, differences are observed between these diagnostic categories in clinical practice. The reliability and clinical utility of mental disorders are adequate; however, the validity is not yet clarified. Similarly, ICD-11 schizophrenia demonstrates adequate reliability and clinical utility, but its validity remains uncertain. The conceptualisation of psychopathology in discrete entities may be inadequate for its study, therefore dimensional and mixed models have been proposed. The indicators of validity, reliability and clinical utility enable us to obtain an accurate view of the nosological state of mental disorders when evaluating different aspects of their nosological construction.

Postpartum psychosis (PPP) is a serious disorder that is associated with maternal and infant morbidity and mortality, yet it is denied a diagnostic classification in the Diagnostic and Statistical Manual of Mental Disorders (DSM). PPP was included in the DSMI (1952) and the DSMII (1968). It was removed from DSMIII (1980). The purpose of this article is to review the history of postpartum psychosis in the DSM and provide the mechanism and research that argues for the inclusion of postpartum psychosis as a separate diagnostic entity in the DSM. This work describes a proposal to the DSMV committee in 2020 for inclusion of PPP as a unique diagnosis based on the cognitive disorganization that accompanies psychotic symptoms. The proposal for inclusion provides the required criteria such as a rationale for the proposed change and evidence that PPP is distinct from other disorders. Validators are described. Reliability studies and benefits of inclusion are provided. We were unable to gain consensus on the presence of cognitive impairment for all postpartum psychotic episodes. The committee opined that we did not demonstrate proof that PPP is a distinct diagnosis. However, the committee acknowledged that the current "specifier" may be insufficient, and thus the option favored by the committee is that it could be added to Sect. 3 of the DSM, "Conditions for Further Study." In the next proposal, we suggest that the unique temporal relationship of symptom onset to childbirth deserves consideration as unique criteria for diagnostic distinction of PPP.

Attention-deficit/hyperactivity disorder (ADHD) has long been regarded as disparate and mutually exclusive to autism spectrum disorder (ASD) in the Diagnostic and Statistical Manual of Mental Disorders (DSM)-III-R and DSM-IV. However, this idea has become obsolete due to a growing body of evidence suggesting numerous phenotypic and genetic similarities between ADHD and ASD. ASD symptoms or autistic traits in individuals with ADHD have been examined; however, most studies were conducted on children and relied on self- or parent- reports. ASD symptoms assessed with more direct, objective measures, such as the Autism Diagnostic Observation Schedule, Second Edition (ADOS-2) in adults with ADHD, remain understudied. In the present study, we used the ADOS-2 to evaluate ASD symptoms in adults with ADHD who were not clinically diagnosed with ASD. Fifty-six adults (mean age 33.9 years, 35 males, intelligence quotient ≥ 85), who were diagnosed with ADHD based on the DSM-5 criteria, completed Module 4 of the ADOS-2. Autism Spectrum Quotient (AQ), Conners' Adult ADHD Rating Scale (CAARS), and Wechsler Adult Intelligence Scale (WAIS)-III were also administered to assess self-rated ASD symptoms, ADHD symptoms, and intelligence, respectively. Overall, 23.3% of participants met the ASD diagnostic classification on the ADOS-2. Social reciprocal interaction scores tended to be higher, while restricted and repetitive behavior scores were low. The scoring patterns and possible overlapping and differing phenotypic characteristics of ADHD and ASD are discussed.

Background and aimsGrowing concerns about the addictive nature of Internet and computer games led to the preliminary recognition of Internet Gaming Disorder (IGD) as an emerging disorder by the American Psychiatric Association (APA) and the official recognition of Gaming Disorder (GD) as a new diagnosis by the World Health Organization (WHO). While the definition of clear diagnostic criteria for (I)GD represents an important step for diagnosis and treatment of the disorder, potential neurobiological correlates of the criteria remain to be explored.MethodsThe present study employed a dimensional Magnetic Resonance Imaging (MRI) approach to determine associations between (I)GD symptom-load according to the APA and WHO diagnostic frameworks and brain structure in a comparably large sample of n = 82 healthy subjects.ResultsHigher symptom-load on both, the APA and WHO diagnostic frameworks convergently associated with lower volumes of the striatum.DiscussionThe results from this exploratory study provide the first initial evidence for a neurobiological foundation of the proposed diagnostic criteria for (I)GD according to both diagnostic classification systems and suggest that the transition from non-disordered to disordered gaming may be accompanied by progressive neuroplastic changes in the striatum, thus resembling progressive changes in other addictive disorders.ConclusionsThe proposed (I)GD criteria in both diagnostic systems were associated with neurostructural alterations in the striatum, suggesting an association with progressive changes in the motivational systems of the brain.

Objective Value in evaluating error subtypes on visuospatial line orientation tests has been reported. Directional bias metrics for line orientation test errors represent easily quantifiable data that have not previously been studied. We evaluated whether patients with a clinical condition known to affect visuospatial functioning (Parkinson’s disease [PD]) exhibited unique directional error patterns on the RBANS Line Orientation test relative to other neuropsychology-referred patients. Method We compared overall directional bias in errors, directional bias by line location (left or right line and visual field), and absolute error rates (regardless of direction) by line location in a retrospective sample of patients with PD and a sample of neuropsychology-referred patients without PD. Groups were roughly matched on age, education, gender, and overall level of cognitive impairment. Results Patients with PD exhibited higher rates of leftward bias in errors, both overall and for the left stimulus line in each pair. Directional bias error scores better predicted PD versus non-PD group status than RBANS Line Orientation raw scores. Classification accuracy data for these variables were modest in the entire sample but stronger in a subsample of patients with mild levels of overall cognitive impairment. Conclusions Directional bias metrics for line orientation tests represent easily quantifiable data with potential theoretical and clinical value. In our sample, patients with PD made more left-biased line orientation errors than other neuropsychology-referred patients. By themselves, directional bias scores may have limited diagnostic potential, but they may be useful in diagnostic classification models and may have implications for clinical care.

The definitions of most of the currently recognized neurodevelopmental disorders and the criteria used to identify them have seen important changes since their inclusion in diagnostic classification systems (see, for instance, how the definitions of specific learning disorders and autism spectrum disorder (ASD) have been revised in successive versions of DSM). As is the case with many other mental conditions, our understanding of neurodevelopmental disorders is continuously being updated in the light of new research findings. However, this has not been the case for nonverbal learning disability. More than 50 years since it was first described,1 there is still no consensus on the merits of identifying it as a separate disorder or using a clear and acknowledged diagnostic label. Instead of trying to establish why nonverbal learning disability has yet to be included in the diagnostic manuals, this editorial examines why recognized criteria for the condition would improve research in this field and avoid the negative consequences of continuing to conduct research without adopting shared criteria.

In this web-based field study, we compared the diagnostic accuracy and clinical utility of 10 selected mental disorders between the ICD-11 Clinical Descriptions and Diagnostic Guidelines (CDDG) and the ICD-10 CDDG using vignettes in a sample of 928 health professionals from all WHO regions. On average, the ICD-11 CDDG displayed significantly higher diagnostic accuracy (71.9% for ICD-11, 53.2% for ICD-10), higher ease of use, better goodness of fit, higher clarity, and lower time required for diagnosis compared to the ICD-10 CDDG. The advantages of the ICD-11 CDDG were largely limited to new diagnoses in ICD-11. After limiting analyses to diagnoses existing in ICD-11 and ICD-10, the ICD-11 CDDG were only superior in ease of use. The ICD-11 CDDG were not inferior in diagnostic accuracy or clinical utility compared to the ICD-10 CDDG for any of the vignettes. Diagnostic accuracy was consistent across WHO regions and independent of participants' clinical experience. There were no differences between medical doctors and psychologists in diagnostic accuracy, but members of other health professions had greater difficulties in determining correct diagnoses based on the ICD-11 CDDG. In sum, there were no differences in diagnostic accuracy for diagnoses existing in ICD-10 and ICD-11, but the introduction of new diagnoses in ICD-11 has improved the diagnostic classification of some clinical presentations. The favourable clinical utility ratings of the ICD-11 CDDG give reason to expect a positive evaluation by health professionals in the implementation phase of ICD-11. Yet, training in ICD-11 is needed to further enhance the diagnostic accuracy.

Insomnia is the most common sleep disorder in the adult population. However, the definition of insomnia disorder has varied across major classification systems and changed over time. In the present study, the investigators traced the evolution of insomnia disorder across classification systems, contemplated the empirical basis for its current definitions, and surveyed ongoing research efforts that may clarify insomnia nosology in the future. Three major classification systems for insomnia are the International Classification of Sleep Disorders, the International Classification of Diseases, and DSM. Despite their divergent origins, these classification systems have converged to nearly identical contemporary insomnia definitions. Over time, the emphasis in classification approaches has shifted from symptomatology to etiology to treatment implications. Additionally, the historical multitude of insomnia subtypes has gradually consolidated into a few core diagnoses, reflecting inadequate evidence with which to support subtyping. Current insomnia definitions include frequency and duration criteria to operationalize these diagnoses, while the diagnostic criterion of nonrestorative sleep has been eliminated (with some controversy). In ongoing research efforts, the quest for insomnia biomarkers has not thus far yielded clinically deployable breakthroughs. Data-driven insomnia subtyping suggests a promising new approach in deriving empirically based subtypes; conversely, the transdiagnostic perspective proposes the elimination of categorical distinctions in favor of finding common processes underlying all psychiatric disorders. The continual evolution of insomnia nosology highlights that much remains to be learned about these conditions; all current diagnostic classification systems are best regarded as "works in progress." Nevertheless, refinement and convergence of classification approaches is essential to standardizing insomnia research, diagnosis, and treatment.

Five years after the publication of DSM-5 in 2013, three widely used diagnostic instruments have published algorithms designed to represent its (sub-)criteria for Autism Spectrum Disorder (ASD) in children and adolescents. This study aimed to: (1) establish the content validity of these three DSM-5-adapted algorithms, and (2) identify problems with the operationalization of DSM-5 diagnostic criteria in measurable and observable behaviors. Algorithm items of the Autism Diagnostic Observation Schedule-Second Edition (ADOS-2), Developmental, Dimensional and Diagnostic Interview (3di) and Diagnostic Interview for Social and Communication Disorders-11th edition (DISCO-11) were mapped onto DSM-5 sub-criteria. The development and decision-making rules integrated in their algorithms were then compared with DSM-5. Results demonstrated significant variability in the number and nature of sub-criteria covered by the ADOS-2, 3di and DISCO-11. In addition to differences in the development of algorithms and cut-off scores, instruments also differed in the extent to which they follow DSM-5 decision-making rules for diagnostic classification. We conclude that such differences in interpretation of DSM-5 criteria provide a challenge for symptom operationalization which will be most effectively overcome by consensus, testing and reformulation. ispartof: EUROPEAN CHILD & ADOLESCENT PSYCHIATRY vol:30 issue:1 pages:75-87 ispartof: location:Germany status: published

The controversy surrounding the diagnostic classification of personality disorder (PD) in the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5; American Psychiatric Assoc...

Childhood conduct disorders, a serious mental health concern, put children at risk for significant mental health problems throughout development. Elevations on callous-unemotional (CU) traits designate a subgroup of youth with conduct disorders who have unique causal processes underlying their problem behavior and are at a particularly high risk for serious impairment relative to others with these disorders. As a result, these traits have recently been integrated into major diagnostic classification systems for conduct disorders. Given that CU traits are partly defined by deficits in empathy, we review research on empathy development in typically developing children and use this research to ( a) advance theories on the specific emotional deficits that may be associated with CU traits, ( b) explain the severe pattern of aggressive behavior displayed by children with elevated CU traits, and ( c) suggest possible ways to enhance prevention and treatment for children with conduct disorders and elevated CU traits.

Aims Studies on the frequency of caregiver involvement in representative inpatient samples are scarce. The aim of our study was to conduct a representative survey on caregiver involvement in routine inpatient care involving all three parties (patients, caregivers, psychiatrists). Therefore, we performed face-to-face interviews consisting of open-ended questions to gain a deeper understanding of when and how caregivers are involved in care treatment and to identify which topics are mainly discussed. Methods This cross-sectional survey included inpatients from 55 acute psychiatric wards across ten psychiatric hospitals, their treating psychiatrists and, when possible, their caregivers. In total, we performed semi-structured face-to-face interviews with 247 patients, their treating psychiatrists and 94 informal caregivers. Each psychiatrist named the next two to three patients to be discharged. After a patient had given informed consent, the interview was performed by a researcher. In addition, the psychiatrist and, when possible, the primary caregiver identified by the patient, were also interviewed. Results It was perceived by both patients and psychiatrists that contact between caregiver and psychiatrist had taken place in one-third of the patient cases. Predictors for psychiatrist-caregiver-contact were revealed in the patient's diagnosis (schizophrenia), a lower history of inpatient stays, and the respective hospital. According to psychiatrists the most frequent subjects of discussion with caregivers involved therapeutic issues and organisational and social-psychiatric topics (e.g. work, living and social support). Patients and caregivers stated that psychiatric treatment and the diagnostic classification of the mental illness were the most frequent topics of conversation. For all three groups, the most often cited reason for missed caregiver involvement was the subjective perception that a caregiver was not in fact needed. Conclusions Whether or not caregivers were contacted and involved during an inpatient stay strongly depended on the individual hospital. The frequency of involvement of caregivers can certainly be increased by changing processes and structures in hospitals. All three parties (patients, caregivers and psychiatrists) most often stated that the caregiver was not involved in the treatment because they thought it was unnecessary. Evidence demonstrates the positive effect of caregivers' involvement on the therapeutic process but also on the well-being of the caregiver, therefore it is necessary to increase awareness of this evidence among all three interest groups.

Practitioners and researchers have long been challenged with identifying deceptive response styles in forensic contexts, particularly when differentiating malingering from factitious presentations. The origins and the development of factitious disorders as a diagnostic classification are discussed, as well as the many challenges and limitations present with the current diagnostic conceptualization. As an alternative to a formal diagnosis, forensic practitioners may choose to consider most factitious psychological presentations (FPPs) as a dimensional construct that are classified like malingering as a V code. Building on Rogers' central motivations for malingering, the current article provides four explanatory models for FPPs; three of these parallel malingering (pathogenic, criminological, and adaptational) but differ in their central features. In addition, the nurturance model stresses how patients with FPPs attempt to use their relationship with treating professionals to fulfill their unmet psychological needs. Relying on these models, practical guidelines are recommended for evaluating FPPs in a forensic context.

Olfactory reference syndrome (ORS) is characterized by a false preoccupation that one has a foul body odor. Scarce systematic data on ORS exist, which has thwarted its diagnostic classification and conceptualization. Western and Eastern conceptual models of ORS emphasize different core fears as central to the disorder. Western conceptualizations emphasize a focus on one's body odor embarrassing oneself (egocentric fears) whereas Eastern conceptualizations emphasize a focus on one's body odor offending others (allocentric fears). The aim of the present Internet study (N = 252) was to determine whether ORS presents with egocentric core fears (supporting Western models), allocentric core fears (supporting Eastern models), or a combination of fear types (supporting a blend of Western and Eastern conceptualizations). Results showed that the majority (58.7%) of ORS participants endorsed both egocentric and allocentric fears. Fears did not differ significantly by culture. Those with both egocentric and allocentric fears had more severe ORS symptoms than those with only egocentric or allocentric fears. Taken together, results provide preliminary evidence that culture-bound definitions of ORS may be overly-restrictive. Rather, individuals in this sample present with symptoms that span across both conceptualizations. Results provide novel empirical evidence with which to hone conceptual models of ORS.

Background Previous studies have reported no clear critical region for medical comorbidities in children with deletions or duplications of 22q11.2. The purpose of this study was to evaluate whether individuals with small nested deletions or duplications of the LCR-A to B region of 22q11.2 show an elevated rate of autism spectrum disorder (ASD) compared to individuals with deletions or duplications that do not include this region. Methods We recruited 46 patients with nested deletions (n = 33) or duplications (n = 13) of 22q11.2, including LCR-A to B (n del = 11), LCR-A to C (n del = 4), LCR-B to D (n del = 14; n dup = 8), LCR-C to D (n del = 4; n dup = 2), and smaller nested regions (n = 3). Parent questionnaire, record review, and, for a subset, in-person evaluation were used for ASD diagnostic classification. Rates of ASD in individuals with involvement of LCR-B to LCR-D were compared with Fisher’s exact test to LCR-A to LCR-B for deletions, and to a previously published sample of LCR-A to LCR-D for duplications. The rates of medical comorbidities and psychiatric diagnoses were determined from questionnaires and chart review. We also report group mean differences on psychiatric questionnaires. Results Individuals with deletions involving LCR-A to B showed a 39–44% rate of ASD compared to 0% in individuals whose deletions did not involve LCR-A to B. We observed similar rates of medical comorbidities in individuals with involvement of LCR-A to B and LCR-B to D for both duplications and deletions, consistent with prior studies. Conclusions Children with nested deletions of 22q11.2 may be at greater risk for autism spectrum disorder if the region includes LCR-A to LCR-B. Replication is needed. Electronic supplementary material The online version of this article (10.1186/s13229-017-0171-7) contains supplementary material, which is available to authorized users.

BackgroundAutism spectrum disorders (ASD) are characterized by substantial clinical, etiological and neurobiological heterogeneity. Despite this heterogeneity, previous imaging studies have highlighted the role of specific cortical and subcortical structures in ASD and have forwarded the notion of an ASD specific neuroanatomy in which abnormalities in brain structures are present that can be used for diagnostic classification approaches.MethodA large (N = 859, 6–27 years, IQ 70–130) multi-center structural magnetic resonance imaging dataset was examined to specifically test ASD diagnostic effects regarding (sub)cortical volumes.ResultsDespite the large sample size, we found virtually no main effects of ASD diagnosis. Yet, several significant two- and three-way interaction effects of diagnosis by age by gender were found.ConclusionThe neuroanatomy of ASD does not exist, but is highly age and gender dependent. Implications for approaches of stratification of ASD into more homogeneous subtypes are discussed.

Background: The Autism Diagnostic Interview-Revised (ADI-R) is considered a first choice assessment tool in autism spectrum disorder. Nevertheless, despite its wide use in psychiatric practice and recommendations by various clinical guidelines, its interrater reliability has predominantly been confirmed in research settings by specially trained, research reliability interviewers. The reliability of ADI-R assessments among clinicians has not yet been established. Therefore, this study examined the spontaneous interrater reliability of the ADI-R in a naturalistic clinical multicenter setting. Sampling and Methods: Ten video-recorded ADI-R administrations were rated by 5 different raters each from a pool of 11 raters affiliated to 8 different clinical sites. Results: The interrater reliability for the 12 diagnostic criteria operationalizing autism spectrum disorders according to DSM-IV/ICD-10 in the ADI-R algorithms ranged between G(q,k) (analogous to intraclass correlations) = 0.96 and 0.99 for reciprocal social interaction, 0.96 and 1.00 for communication, and 0.91 and 0.97 for repetitive and restricted behavior. Reliability of diagnostic classification was ĸCohen 0.83. Conclusions: The findings endorse the psychometric properties of ADI-R in terms of interrater reliability previously reported from research settings and support their generalization to common clinical settings. Limitations of this study include an unbalanced sample composition.

Introduction We established a method for diagnostic harmonization across multiple studies of preclinical Alzheimer's disease and validated the method by examining its relationship with clinical status and cognition. Methods Cognitive and clinical data were used from five studies ( N = 1746). Consensus diagnoses established in each study used criteria to identify progressors from normal cognition to mild cognitive impairment. Correspondence was evaluated between these consensus diagnoses and three algorithmic classifications based on (1) objective cognitive impairment in 2+ tests only; (2) a Clinical Dementia Rating (CDR) of ≥0.5 only; and (3) both. Associations between baseline cognitive performance and cognitive change were each tested in relation to progression to algorithm-based classifications. Results In each study, an algorithmic classification based on both cognitive testing cutoff scores and a CDR ≥0.5 provided optimal balance of sensitivity and specificity (areas under the curve: 0.85–0.95). Over an average 6.6 years of follow-up (up to 28 years), N = 186 initially cognitively normal participants aged on average 64 years at baseline progressed (incidence rate: 15.3 people/1000 person-years). Baseline cognitive scores and cognitive change were associated with future diagnostic status using this algorithmic classification. Discussion Both cognitive tests and CDR ratings can be combined across multiple studies to obtain a reliable algorithmic classification with high specificity and sensitivity. This approach may be applicable to large cohort studies and to clinical trials focused on preclinical Alzheimer's disease because it provides an alternative to implementation of a time-consuming adjudication panel.

Background Semantic intrusion errors on memory tests may represent very early cognitive changes associated with elevated Alzheimer's disease pathology within the brain, including amyloid-β (Aβ). Subscales that measure proactive semantic interference (PSI) and intrusions related to PSI on the Loewenstein Acevedo Scales of Semantic Interference and Learning (LASSI-L) have been associated with high levels of brain amyloid load, structural changes on brain MRI in Hispanic and non-Hispanic groups. It is presently unknown whether intrusion errors or other measures of the LASSI-L can differentiate between African-American (AA) older adults diagnosed with amnestic mild cognitive impairment (aMCI) or classified as cognitively normal (CN). Objective This study examined the extent to which a high percentage of semantic intrusion errors on LASSI-L subscales susceptible to PSI and other LASSI-L measures could differentiate between AA aMCI and CN groups. Methods Forty-eight AA older adults were recruited (27 CN and 21 aMCI) and received a through clinical and neuropsychological evaluation. The LASSI-L was administered independent of diagnostic classification. Results With and without statistical adjustment for literacy, AA aMCI participants scored lower on all LASSI-L measures. ROC analyses revealed an area under the curve exceeding 90% and correctly classified 86% of AA aMCI with 82% specificity for AA CN participants. Conclusions Percentage of intrusion errors on the LASSI-L subscales susceptible to PSI differentiated AA aMCI from AA CN. This adds to emerging evidence indicating that the LASSI-L may be culturally appropriate and can differentiate between aMCI and CN in diverse ethnic/cultural groups.

Cotard is a syndrome that is characterized by ideas of damnation or rejection, anxious melancholia, insensitivity to pain, and nihilistic delusions concerning one’s own body or existence. It is most often encountered in middle age or older women who are severely depressed. Capgras syndrome is a rare psychiatric disorder with colourful symptoms. The patient believes that the identities of close relatives or friends are not real but are replaced by others. Co-existences of psychiatric and organic diseases with Cotard’s syndrome and Capgras syndrome are reported in different studies. There is still requirement of more research to establish a position in diagnostic classification systems for these syndromes which are thought to have a multifactorial etiology. In this report, we described a patient with bipolar disorder type-2 who displayed comorbid Cotard and Capgras delusions which were most evident at the onset of menstrual periods.

Objective To obtain more precise and rich information from the measurements for schizotypal personality disorder (SPD), a cutting‐edge psychometric theory called diagnostic classification models (DCMs) was first employed in the present study to develop a diagnostic classification version of the Schizotypal Personality Questionnaire (DC‐SPQ) based on the fifth edition of the Diagnostic and Statistical Manual of Mental Disorders. Methods Under the framework of DCMs, 980 college students were recruited to calibrate item parameters of the Schizotypal Personality Questionnaire. Items that fit the psychometric characteristic would be selected to compose the DC‐SPQ, prior to an analysis of its indexes. Results Results showed that the DC‐SPQ had high reliability and validity in both the classical test theory and DCMs, in addition to showing a sensitivity of 0.921 and a specificity of 0.841 with area under receiver operating characteristic curve = 0.936. Meanwhile, the four‐factor model proposed adequately fits with the data. More importantly, the DC‐SPQ provides not only the general‐level information similar to traditional questionnaires but also the symptom‐level information with the posterior probability, which provides an insight into delivering the individual‐specific intervention that is tailor made to schizotypal personality disorder. Conclusions This study demonstrates that the DC‐SPQ is very valuable for psychometric detection in that it can clarify the symptom being measured and provide more reasonable estimates.

Objective Schizophrenia spectrum disorders (SSD) and psychotic bipolar disorder share a number of genetic and neurobiological features, despite a divergence in clinical course and outcome trajectories. We studied the diagnostic classification potential that can be achieved on the basis of the structure and connectivity within a triple network system (the default mode, salience and central executive network) in patients with SSD and psychotic bipolar disorder. Methods Directed static connectivity and its dynamic variance was estimated among 8 nodes of the three large-scale networks. Multivariate autoregressive models of deconvolved resting state functional magnetic resonance imaging time series were obtained from 57 patients (38 with SSD and 19 with bipolar disorder and psychosis). We used 2/3 of the patients for training and validation of the classifier and the remaining 1/3 as an independent hold-out test data for performance estimation. Results A high level of discrimination between bipolar disorder with psychosis and SSD (combined balanced accuracy = 96.2%; class accuracies 100% for bipolar and 92.3% for SSD) was achieved when effective connectivity and morphometry of the triple network nodes was combined with symptom scores. Patients with SSD were discriminated from patients with bipolar disorder and psychosis as showing higher clinical severity of disorganization and higher variability in the effective connectivity between salience and executive networks. Conclusions Our results support the view that the study of network-level connectivity patterns can not only clarify the pathophysiology of SSD but also provide a measure of excellent clinical utility to identify discrete diagnostic/prognostic groups among individuals with psychosis.

Objective: The Hierarchical Taxonomy of Psychopathology (HiTOP) posits that psychopathology is hierarchically structured. For personality disorder (PD) traits, there are five spectra: internalizing, thought disorder, disinhibited externalizing, antagonistic externalizing, and detachment. Empirical findings suggest a sixth group, compulsivity. In this research, we tried to recover the five HiTOP spectra, plus compulsivity, specifically for PD traits. Methods: The sample was composed of 4,868 Brazilians (54.9% women, age ranging from 18 to 70; mean = 25.7; SD = 9.64). All participants answered the Dimensional Clinical Personality Inventory 2 (IDCP-2), a self-report inventory for adults, developed in Brazil, for assessment of pathological personality traits. Results: Parallel analysis yielded up to nine factors. On exploratory structural equation modeling (E-SEM), the balance between interpretability and fit index suggested the six-factor solution as the best solution. The fit indexes for the confirmatory factor analysis were slightly less adjusted in comparison to the empirical model. Conclusion: The hypothesis was confirmed, as we did find the groups proposed at the spectrum level of the HiTOP. We also found a compulsivity factor, encompassing the main traits from the conscientiousness dimension of IDCP-2, which is related to obsessive-compulsive PD. Finding the six groupings of traits in the HiTOP model contributes to the validity of this model, and confirms the existence of proposed spectra.

Several changes to the classification of schizophrenia and other psychotic disorders have been made to increase the reliability, clinical use and validity of the diagnostic classification which are considered here. A diagnosis of schizoaffective disorder would only be made in ICD-11 when the definitional requirement of schizophrenia is met concurrently with mood symptoms that meet the definitional requirements of a moderate or severe depressive episode, a manic episode, or a mixed episode. This requirement is more restrictive compared to ICD-10, which just required the presence of symptoms of schizophrenia and mood disorder. The total duration requirement would be 4 weeks. A cross-sectional approach was maintained in the ICD-11 for schizoaffective disorders as there is no evidence on how a longitudinal “lifetime” criterion impacts cross-sectional inter-rater reliability, and the reliability of lifetime symptoms’ report by patients and retrospective assessment by clinicians remains unknown.DisclosureNo significant relationships.

Background & aims Due to the complexity of early diagnostic decision making, we examined the predictive value of an early diagnostic classification and early abilities on later best estimate diagnosis for 22 clinically referred children with language difficulties. Methods and procedures Four years after initial evaluation (Time 1), the clinical files of these children were reviewed. A best-estimate (BE) diagnosis of language disorder (LD), intellectual disability (ID), or autism spectrum disorder (ASD) was established, with ASD being most common. Outcomes and results Early clinical classifications were relatively unstable or difficult to establish at a young age. The magnitude of children’s cognitive and receptive language delay was a significant predictor of a later BE diagnosis of ID and LD respectively. A BE diagnosis of ASD, by contrast, could not be predicted from children’s early social communication problems nor the presence of restricted and repetitive behaviors and interests. Conclusions Taken together, the results of this study suggest that language difficulties can be an early marker of a neurodevelopmental disorder which is often not identified at the age of first referral. Implications Eligibility for treatment should, therefore, be based on biopsychosocial case formulation rather than DSM or ICD diagnostic classification. What this paper adds? In this study a dimensional approach was used to characterize the abilities of young children referred with mild to profound receptive and/or expressive language difficulties. Later on, a categorical approach was adopted to establish best estimate diagnoses. Our clinical, broadly defined sample reflects the heterogeneous intake of young children referred for diagnostic assessment. Other studies on diagnostic stability often only focus on one diagnostic category (and are explicitly excluding children with specific other diagnoses), not taking into account the difficulties of early differential diagnostic decision making and stability across different categories over time. Investigations of differential diagnosis within a clinical group, instead of only differentiating children with a specific diagnosis from typically developing children, may be more informative for clinicians.

In small, selected samples, an approach combining resting-state functional connectivity MRI and multivariate pattern analysis has been able to successfully classify patients diagnosed with unipolar depression. Purposes of this investigation were to assess the generalizability of this approach to a large clinically more realistic sample and secondarily to assess the replicability of previously reported methodological feasibility in a more homogeneous subgroup with pronounced depressive symptoms. Two independent subsets were drawn from the depression and control cohorts of the BiDirect study, each with 180 patients with and 180 controls without depression. Functional connectivity either among regions covering the gray matter or selected regions with known alterations in depression was assessed by resting-state fMRI. Support vector machines with and without automated feature selection were used to train classifiers differentiating between individual patients and controls in the entire first subset as well as in the subgroup. Model parameters were explored systematically. The second independent subset was used for validation of successful models. Classification accuracies in the large, heterogeneous sample ranged from 45.0 to 56.1% (chance level 50.0%). In the subgroup with higher depression severity, three out of 90 models performed significantly above chance (60.8-61.7% at independent validation). In conclusion, common classification methods previously successful in small homogenous depression samples do not immediately translate to a more realistic population. Future research to develop diagnostic classification approaches in depression should focus on more specific clinical questions and consider heterogeneity, including symptom severity as an important factor.

BACKGROUND Measurements of olfaction may serve as useful biomarkers of incipient dementia. Here we examine the improvement in diagnostic accuracy of Alzheimer's disease (AD) and mild cognitive impairment (MCI) when assessing both cognitive functioning and odor identification. OBJECTIVE To determine the utility of odor identification as a supplementary screening test in incipient AD. METHODS Sniffin' Sticks Odor Identification Test (SS-OIT) and the Montreal Cognitive Assessment (MoCA) were administered in 262 AD, 174 MCI [150 amnestic (aMCI), and 24 non-amnestic (naMCI)], and 292 healthy older adults (HOA). RESULTS Odor identification scores were higher in HOA relative to MCI or AD groups, and MCI outperformed AD. Odor identification scores were higher in aMCI single domain than aMCI multiple domain. Complementing MoCA scores with the SS-OIT significantly improved diagnostic accuracy of individuals with AD and MCI, including within MCI subgroups. DISCUSSION Odor identification is a useful supplementary screening tool that provides additional information relevant for clinical categorization of AD and MCI, including those who are at highest risk to convert to AD.

Infant mental health is explicitly relational in its focus, and therefore a diagnostic classification system for early childhood disorders should include attention not only to within-the-child psychopathology but also between child and caregiver psychopathology. In this article, we begin by providing a review of previous efforts to introduce this approach that date back more than 30 years. Next, we introduce changes proposed in the Diagnostic Classification of Mental Health and Developmental Disorders of Infancy and Early Childhood DC:0-5 (ZERO TO THREE, in press). In a major change from previous attempts, the DC:0-5 includes an Axis I "Relationship Specific Disorder of Early Childhood." This disorder intends to capture disordered behavior that is limited to one caregiver relationship rather than cross contextually. An axial characterization is continued from the Diagnostic Classification of Mental Health and Developmental Disorders of Infancy and Early Childhood DC:0-3R (ZERO TO THREE, 2005), but two major changes are introduced. First, the DC:0-5 proposes to simplify ratings of relationship adaptation/maladaptation, and to expand what is rated so that in addition to characterizing the child's relationship with his or her primary caregiver, there also is a characterization of the network of family relationships in which the child develops. This includes coparenting relationships and the entire network of close relationships that impinge on the young child's development and adaptation.

Over the past 5 years, a great deal of information about the early course of autism spectrum disorder (ASD) has emerged from longitudinal prospective studies of infants at high risk for developing ASD based on a previously diagnosed older sibling. The current article describes early ASD symptom presentations and outlines the rationale for defining a new disorder, Early Atypical Autism Spectrum Disorder (EA-ASD) to accompany ASD in the new revision of the ZERO TO THREE Diagnostic Classification of Mental Health and Developmental Disorders of Infancy and Early Childhood (DC:0–5) (in press) alternative diagnostic classification manual. EA-ASD is designed to identify children who are 9 to 36 months of age presenting with a minimum of (a) two social-communication symptoms and (b) one repetitive and restricted behavior symptom as well as (c) evidence of impairment, with the intention of providing these children with appropriately tailored services and improving the likelihood of optimizing their development.

The paper reviews the literature on cognitive behavioral therapy (CBT) across the lifespan. CBT has shown mixed results for children with ADHD. There is a dearth of literature on CBT for adolescents with ADHD with only a few available studies suggesting its usefulness. CBT, however, has proven to be most promising for adults with ADHD. Newer studies have used recent diagnostic classification, randomization, blind assessments, robust statistical analysis procedures, and longer term follow-ups with booster sessions along with weekly coaching/mentoring. CBT is a promising adjunct to medication as it addresses many of the functional deficits of individuals with ADHD, which medication alone does not correct. Some maintenance of treatment gains for 6–12 months has been demonstrated in recent studies.

Background: Stability of diagnosis was listed as an important predictive validator for maintaining separate diagnostic classifications in DSM-5. The aim of this study is to examine the longitudinal stability of anxiety disorder diagnoses, and the difference in stability between subjects with a chronic versus a nonchronic course.Methods: Longitudinal data of 447 subjects with a current pure anxiety disorder diagnosis at baseline from the Netherlands Study of Depression and Anxiety were used. At baseline, 2-, 4-, and 6-year followup mental disorders were assessed and numbers (and percentages) of transitions from one anxiety disorder diagnosis to another were determined for each anxiety disorder diagnosis separately and for subjects with a chronic (i.e. one or more anxiety disorder at every follow-up assessment) and a nonchronic course.Results: Transition percentages were high in all anxiety disorder diagnoses, ranging from 21.1% for social anxiety disorder to 46.3% for panic disorder with agoraphobia at six years of follow-up. Transition numbers were higher in the chronic than in the non-chronic course group (p=0.01).Limitations: Due to the 2 year sample frequency, the number of subjects with a chronic course may have been overestimated as intermittent recovery periods may have been missed.Conclusions: These data indicate that anxiety disorder diagnoses are not stable over time. The validity of the different anxiety disorder categories is not supported by these longitudinal patterns, which may be interpreted as support for a more pronounced dimensional approach to the classification of anxiety disorders. (C) 2015 Elsevier B.V. All rights reserved.

Sexual attraction towards animals disorder: Diagnostic classification based on a systematic review Abstract: Sexual intercourse between humans and animals has existed since the dawn of humanity in every place and culture of the world. Nevertheless, this issue has been scarcely approached by science. Given the wide differences in behavior and preferences among people who practice sex with animals, it is necessary to establish a subtypes classification. For this purpose, a systematic review of investigations was carried out that allowed us to select 26 empirical studies. Their analysis permitted to describe the group of Sexual Attraction Towards Animals disorder, comprising four differentiated disorders: (1) zoophilic disorder, (2) bestiality disorder, (3) sexual zoosadism, and (4) sexual attraction disorder towards animals due to medical or substance-induced illness. Additionally, the diagnostic criteria for each are proposed. Implications and limitations are discussed, as well as the value of having a classification of these disorders and the need to incorporate their study in the academic field. Keywords: Bestiality; disorders; paraphilias; zoophilia; zoosadism. Resumen: Las relaciones sexuales entre humanos y animales han existido desde los albores de la humanidad en todos los lugares y culturas del mundo. Sin embargo, han sido abordadas escasamente por la ciencia. Dadas las amplias diferencias en las conductas y preferencias entre quienes practican sexo con animales, se hace necesario establecer una clasificación de subtipos. Con ese propósito, se realizó una revisión sistemática de investigaciones que arrojó 26 estudios empíricos. El análisis de estos permitió describir el grupo de Trastornos por atracción sexual hacia animales, comprendiendo cuatro trastornos diferenciados: (1) trastorno zoofílico, (2) trastorno por bestialidad, (3) zoosadismo sexual, y (4) trastorno por atracción sexual hacia los animales debido a enfermedad médica o inducido por sustancias. Adicionalmente, se propusieron criterios diagnósticos para cada uno. Se discuten las implicancias y limitaciones, el valor de contar una clasificación de estos trastornos y la necesidad de incorporar su estudio en el ámbito académico. Palabras clave: Bestialismo; parafilias; trastornos; zoofilia; zoosadismo.

Background Several machine-learning (ML) algorithms have been deployed in the diagnostic classification of schizophrenia. Compared to other ML methods, the 3D convolutional neural network (CNN) has an advantage of learning complex and subtle patterns in data and preserving spatial information, which is a more suitable tool for brain imaging data. Although resting-state functional MRI (rsfMRI) data has been used in previous ML studies relating to the diagnostic classification of schizophrenia, a limited number of studies have been conducted using resting-state functional connectivity resulted from group independent component analysis (ICA) and dual regression. The objective of this study was to investigate whether a successful diagnostic classification of schizophrenia vs. healthy controls could be achieved by the 3D CNN using resting-state networks in which areas with a significant group difference in activity existed. Methods T1 and rsfMRI data were collected in 46 patients with recent-onset schizophrenia and 22 healthy controls. In the pre-processing steps of rsfMRI, the ICA-based automatic removal of motion artifacts was applied to subject-level ICA results and the resulting rsfMRI data were temporally concatenated for group ICA and dual regression. The executive control and auditory networks had areas with significantly higher activity in the control group compared with the patient group. The independent components (ICs) respective to the executive control and auditory networks were used as input for the 3D CNN model which was developed to discriminate the schizophrenia patients from the healthy controls. Results The 3D CNN model using the executive control and auditory networks as inputs showed classification accuracies of 65~70%, and error rates of 30~35% approximately. Discussion Our findings suggest that the 3D CNN model using rsfMRI data can be useful for learning patterns implicated in schizophrenia and identifying discriminative patterns of schizophrenia in brain imaging data.

We report on the case of a 15-year-old boy referred to Warrenstown inpatient unit for management of what appeared to be a typical case of anorexia nervosa. Over the course of his admission however, this diagnosis was no longer considered appropriate and substituted for a food avoidance emotional disorder. This is one of a number of cases of young males who have recently been referred for inpatient management of anorexia nervosa but which emerged into something quite atypical. The limited usefulness of the ICD-10/DSM-IV criteria in the diagnosis of an eating disorder in childhood and adolescence in this case reflects a broader level of discontent with the application of such diagnostic classification systems in a paediatric population.

Objectives The purpose of this study was to evaluate the prevalence of mixed features using the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5) and to examine how patients with mixed states would be classified using the DSM-5. Methods In total, 12 hospitals participated in this study, and data on the demographic characteristics and clinical diagnoses of patients treated between October 2013 and September 2016 were obtained. We reviewed the data for opposite-polarity symptoms according to the DSM-5 criteria and the research-based diagnostic criteria. Results Of the 859 patients included in the final analysis, the prevalence of mixed features in patients with major depressive episodes based on the DSM-5 remained low. Patients with major depressive disorder were more likely to be classified as experiencing anxious distress and/or a cluster-B personality disorder in mixed state patients not diagnosed with DSM-5 mixed features, whereas more mixed state patients with bipolar disorder were diagnosed with mixed features using the DSM-5. Conclusions The prevalence of mixed features did not increase significantly when the DSM-5 was used, and patients with mixed states were more likely to be classified as having anxious distress and/or a cluster-B personality disorder in addition to mixed features.

Background/Aims: The utility of β-site amyloid-β precursor protein (AβPP) cleaving enzyme 1 (BACE1) activity and soluble AβPP β (sAβPPβ) levels in cerebrospinal fluid (CSF) in detecting Alzheimer’s disease (AD) is still elusive. Methods: BACE1 activity and sAβPPβ concentration were measured in patients with AD dementia (n = 56) and mild cognitive impairment (MCI) due to AD (n = 76) with abnormal routine AD CSF markers, in patients with MCI with normal CSF markers (n = 39), and in controls without preclinical AD (n = 48). In a subsample with available 18F-fluorodeoxyglucose positron emission tomography (FDG PET) data, ordinal regression models were employed to compare the contribution of BACE1 and sAβPPβ to correct diagnostic classification to that of FDG PET. Results: BACE1 activity was significantly higher in patients with MCI due to AD compared to both controls and patients with MCI with normal CSF markers. sAβPPβ did not differ between any of the studied groups. Interestingly, BACE1 activity was not found to be inferior to FDG PET as predictive covariate in differentiating between the diagnostic groups. Conclusions: Further studies using biomarker-underpinned diagnoses are warranted to shed more light on the potential diagnostic utility of BACE1 activity as AD biomarker candidate in MCI.

Background.Research suggests that personality traits have both direct and indirect effects on the development of psychological symptoms, with indirect effects mediated by stressful or traumatic events. This study models the direct influence of personality traits on residualized changes in internalizing and externalizing symptoms following a stressful and potentially traumatic deployment, as well as the indirect influence of personality on symptom levels mediated by combat exposure.Method.We utilized structural equation modeling with a longitudinal prospective study of 522 US National Guard soldiers deployed to Iraq. Analyses were based on self-report measures of personality, combat exposure, and internalizing and externalizing symptoms.Results.Both pre-deployment Disconstraint and externalizing symptoms predicted combat exposure, which in turn predicted internalizing and externalizing symptoms. There was a significant indirect effect for pre-deployment externalizing symptoms on post-deployment externalizing via combat exposure (p< 0.01). Negative Emotionality and pre-deployment internalizing symptoms directly predicted post-deployment internalizing symptoms, but both were unrelated to combat exposure. No direct effects of personality on residualized changes in externalizing symptoms were found.Conclusions.Baseline symptom dimensions had significant direct and indirect effects on post-deployment symptoms. Controlling for both pre-exposure personality and symptoms, combat experiences remained positively related to both internalizing and externalizing symptoms. Implications for diagnostic classification are discussed.

Background The approach to apply multivariate pattern analyses based on neuro imaging data for outcome prediction holds out the prospect to improve therapeutic decisions in mental disorders. Patients suffering from panic disorder with agoraphobia (PD/AG) often exhibit an increased perception of bodily sensations. The purpose of this investigation was to assess whether multivariate classification applied to a functional magnetic resonance imaging (fMRI) interoception paradigm can predict individual responses to cognitive behavioral therapy (CBT) in PD/AG. Methods This analysis is based on pretreatment fMRI data during an interoceptive challenge from a multicenter trial of the German PANIC-NET. Patients with DSM-IV PD/AG were dichotomized as responders (n = 30) or non-responders (n = 29) based on the primary outcome (Hamilton Anxiety Scale Reduction ≥50%) after 6 weeks of CBT (2 h/week). fMRI parametric maps were used as features for response classification with linear support vector machines (SVM) with or without automated feature selection. Predictive accuracies were assessed using cross validation and permutation testing. The influence of methodological parameters and the predictive ability for specific interoception-related symptom reduction were further evaluated. Results SVM did not reach sufficient overall predictive accuracies (38.0–54.2%) for anxiety reduction in the primary outcome. In the exploratory analyses, better accuracies (66.7%) were achieved for predicting interoception-specific symptom relief as an alternative outcome domain. Subtle information regarding this alternative response criterion but not the primary outcome was revealed by post hoc univariate comparisons. Conclusion In contrast to reports on other neurofunctional probes, SVM based on an interoception paradigm was not able to reliably predict individual response to CBT. Results speak against the clinical applicability of this technique.

Introduction We assessed the diagnostic accuracy of cerebrospinal fluid (CSF) YKL-40 in discriminating (1) clinical Alzheimer's disease (AD) from cognitively healthy controls (HCs) and frontotemporal dementia (FTD) (level I) and (2) patients stratified by different pathophysiological profiles from HCs and FTD following a novel unbiased/descriptive categorization based on CSF biomarkers, independent of cognitive impairment severity (level II). Methods YKL-40 was compared among HCs ( n = 21), mild cognitive impairment ( n = 41), AD ( n = 35), and FTD ( n = 9) (level I) and among HCs ( n = 21), AD pathophysiology (tau and amyloid-β) negative ( n = 15), tau positive ( n = 15), amyloid-β positive ( n = 13), AD pathophysiology positive ( n = 33), and FTD ( n = 9) (level II). Results Level I: YKL-40 discriminated AD from HC and FTD (area under the receiver operating characteristic curves [AUROCs] = 0.69, 0.71). Level II: YKL-40 discriminated tau-positive individuals and AD pathophysiology–positive individuals from HC, AD pathophysiology–positive patients from FTD (AUROCs = 0.76, 0.72, 0.73). Discussion YKL-40 demonstrates fair performance in distinguishing tau-positive patients from HCs, suggesting it may aid clinical diagnosis and support a biomarker-guided pathophysiological stratification.

Background:Mild cognitive impairment (MCI) is a diagnostic classification used to describe patients experiencing cognitive decline but without a corresponding impairment in daily functioning. Over the years, MCI diagnostic criteria have undergone major changes that correspond to advancements in research. Despite these advancements, current diagnostic criteria for MCI contain issues that are reflected in the research literature.Methods:A review of the available MCI literature was conducted with emphasis given to tracing MCI from its conceptual underpinnings to the most current diagnostic criteria. A clinical vignette is utilized to highlight some of the limitations of current MCI diagnostic criteria.Results:Issues are encountered when applying MCI diagnostic criteria due to poor standardization. Estimates of prevalence, incidence, and rates of conversion from MCI to dementia reflect these issues.Conclusions:MCI diagnostic criteria are in need of greater standardization. Recommendations for future research are provided that could potentially bring more uniformity to the diagnostic criteria for MCI and, therefore, more consistency to the research literature.

SummaryThis article reviews the recent changes to the DSM diagnostic classification of feeding and eating disorders with particular reference to children and adolescents. The common clinical presentations of the ‘atypical’ feeding and eating problems of middle childhood and early adolescence are reviewed using clinical case vignettes, and the limited evidence base regarding management is summarised. There are many gaps in the evidence base and this is likely to be an area of rapid development for the field subsequent on the new terminology outlined in DSM-5.Learning Objectives•Be able to describe the recent changes in terminology of DSM-5 for eating disorders in children and adolescents.•Be able to provide information to young people and parents on the short- and long-term medical consequences of low weight in children.•Be able to assess risk in children presenting with atypical eating disorders.

In psychiatry, burnout is a relevant phenomenon. A large number of individuals is feeling overburdened at work. In contrast to mental disorders, the term 'burnout' is not perceived as stigmatizing, making it therefore easier for afflicted persons to seek help. The term 'burnout syndrome' was mentioned 1974 for the first time in scientific literature. Today, there is a range of partially contradictory definitions and explanations for burnout and the burnout syndrome, respectively. In most studies, burnout is assessed by the Maslach Burnout Inventory, which is neither useful for determining the degree of pathology nor for distinguishing burnout from mental disorders such as depression. It is expected that the burnout syndrome will not be used in modern diagnostic classification systems, because of its unclear definition and conceptual contradictions. On these grounds, it appears reasonable to define burnout as long-term professional overload and a noteworthy risk factor for physical diseases and mental disorders.

BACKGROUND One in four individuals with intellectual disability (ID) are additionally diagnosed with autism spectrum disorders (ASD) that may not be recognized und thus remain untreated until adulthood. Diagnosing ASD in adults with ID is challenging and there is a lack of specific diagnostic measures. METHODS The Diagnostic Behavioral Assessment for ASD (DiBAS) is a DSM-5/ICD-10 based caregiver-report screener consisting of 20 Likert-scaled items. This study evaluates the item validities and -difficulties, and the scale's feasibility and validity in a clinical, adult ID sample (N = 91) from 8/2009 to 12/2011. RESULTS The DiBAS was applicable in all individuals (100 %) and yielded an adequate diagnostic validity reflected by ROC analysis and an AUC of 0.808. Using a cut-point of 30, the sensitivity and specificity values were 83 % and 64 %, the agreement with the final diagnostic classification was 74 %, and Cohen's kappa was 0.469. Single item analysis revealed 12 valid DiBAS variables that predominantly could be assigned to the social interaction and non-verbal communication domains; item difficulties varied from 0.21 to 0.84. The scale's internal consistency was appropriate (Cronbach's alpha 0.749). CONCLUSIONS The DiBAS is a promising psychometrical sound scale of high feasibility to screen for ASD in adults with ID, which could be further specified by single item analysis.

Amyotrophic lateral sclerosis (ALS) has distinctive and well-established radiological signatures which are increasingly utilised in advanced machine-learning algorithms heralding exciting novel diagnostic applications.1 2 Quantitative spinal cord (SC) imaging provides a unique opportunity to evaluate both upper (UMN) and lower motor neuron (LMN) involvement, and recent studies have showcased its biomarker potential in ALS through reliable cross-sectional area (CSA) measurements, evaluation of diffusion tensor imaging (DTI) parameters, correlations with clinical measures and survival.3 4 Nevertheless, no studies have evaluated the diagnostic accuracy of SC metrics in ALS to date. Accordingly, the objective of this study was to evaluate the effectiveness of multimodal cervical imaging in distinguishing ALS from healthy controls (HC) using a random forest (RF) classification algorithm.5 Sixty patients with ALS and 45 age-matched controls gave informed consent to participate in a prospective neuroimaging study in the Pitie-Salpetriere Hospital in Paris. Participating patients had probable or definite ALS according to the revised El-Escorial criteria. Patients with cognitive impairment, relevant comorbidities and taking medications other than riluzole were excluded from the study. ### MRI Cervical cord data were acquired from C2 to C7 on a 3T MRI system (Siemens TIM Trio). A T2-weighted three-dimensional turbo spin echo protocol was used for structural imaging with an isotropic voxel size 0.9×0.9×0.9 mm3, field of view (FOV)=280×280 mm2, 52 sagittal slices, repetition time (TR)=1500 ms, echo time (TE)=120 ms and acceleration factor=3. DTI data were acquired using a single-shot echo-planar imaging sequence. The acquisition was cardiac gated with a voxel size=1×1×5 mm3, FOV=128×128 mm2, TR=700 ms, TE=96 ms, acceleration factor=2, b value=1000 s/mm2, 64 diffusion encoding directions and four averages. 3D gradient echo images were used …