A model of neurological disorder: a basis for logical and structured thinking and reasoning in neurology

A model of neurological disorder in graphical form, based upon a model proposed by the World Health Organisation, is presented. This model is intended to be a basis for a logical and structured thinking and reasoning in neurology, not least in diagnosis. The model is a chain of basic elements in which each element causes the following one. The chain can be divided in two parts. The first part is: Etiology → Pathology → Manifestation. Pathology is described by the properties of the lesion in the nervous system. Manifestation is the symptoms and signs, that can be summarised as Semiology, in fact, synonymous with Impairment. The second part of the model is then: Manifestation (= Impairment) → Disability → Handicap. The terms disease and disorder are not contained within the chain of basic elements. The manifestation gives the patient an awareness of disorder and the condition may be classified as syndrome or disease. Neither the awareness of disorder nor the classification influences the chain of basic elements.     

Making psychiatric semiology great again: A semiologic,not nosologic challenge

This article analyzes whether psychiatric disorders can be considered different from non-psychiatric disorders on a nosologic or semiologic point of view. The supposed difference between psychiatric and non-psychiatric disorders relates to the fact that the individuation of psychiatric disorders seems more complex than for non-psychiatric disorders. This individuation process can be related to nosologic and semiologic considerations. The first part of the article analyzes whether the ways of constructing classifications of psychiatric disorders are different than for non-psychiatric disorders. The ways of establishing the boundaries between the normal and the pathologic, and of classifying the signs and symptoms in different categories of disorder, are analyzed. Rather than highlighting the specificity of psychiatric disorders, nosologic investigation reveals conceptual notions that apply to the entire field of medicine when we seek to establish the boundaries between the normal and the pathologic and between different disorders. Psychiatry is thus very important in medicine because it exemplifies the inherent problem of the construction of cognitive schemes imposed on clinical and scientific medical information to delineate a classification of disorders and increase its comprehensibility and utility. The second part of this article assesses whether the clinical manifestations of psychiatric disorders (semiology) are specific to the point that they are entities that are different from non-psychiatric disorders. The attribution of clinical manifestations in the different classifications (Research Diagnostic Criteria, Diagnostic Statistic Manual, Research Domain Criteria) is analyzed. Then the two principal models on signs and symptoms, i.e. the latent variable model and the causal network model, are assessed. Unlike nosologic investigation, semiologic analysis is able to reveal specific psychiatric features in a patient. The challenge, therefore, is to better define and classify signs and symptoms in psychiatry based on a dual and mutually interactive biological and psychological perspective, and to incorporate semiologic psychiatry into an integrative, multilevel and multisystem brain and cognitive approach.     

Pathological heterogeneity of clinically diagnosed corticobasal degeneration

Two patients fulfilling suggested clinical diagnostic criteria for corticobasal degeneration (CBD) are presented, who were found at postmortem to have alternative pathological diagnoses not suspected during life, namely, Alzheimer's disease and Pick's disease, respectively. The nosological position of these cases is considered in light of a literature review of previous reports of clinically diagnosed corticobasal degeneration with atypical (not corticobasal degeneration) pathology. Since such phenocopies may be common, we suggest that all clinically diagnosed cases of corticobasal degeneration should initially be labelled as "corticobasal degeneration syndrome" (CBDS) to emphasize that this is a diagnosis based on clinical phenotype, with the term corticobasal degeneration being reserved for the specific neuropathological phenotype, which itself may have a variety of clinical presentations.     

Évaluation du sadisme sexuel sévère dans un population médico-légale. Validation francophone de la Sexual Sadism Scale (SESAS)

ObjectivesSexual sadism is associated with a high risk of sexual violence and general recidivism in sex offenders. However, its evaluation encounters vague diagnostic criteria and uses idiosyncratic methods that require evaluators to infer the individual's motivations and sadistic fantasies. The Sexual Sadism Scale (SESAS) is a cumulative scale that is based exclusively on elements of the crime scene. Both inter-rater agreement and scale reliability of this one-dimensional scale comprising 11 items is high. The items are coded dichotomously based on offenders's files. An individual would be classified as likely meeting the diagnostic criteria if at least 4 of the criteria are present. The objective of our study was the French validation of the SESAS.MethodsFrom the sex offenders’ population in our High Security Hospital “Les Marronniers”, 62 participants were randomly selected. Participants signed a consent form. Inter-rater agreements were analyzed from two evaluators. Offender's files contained data concerning the offense(s), psychiatric expertises carried out for the courts in charge of the follow-up of the participants, and the psychiatric and social reports concerning the evolution of the patients. Results have been anonymized. Statistical analyzes were performed using the Statistical Package for Social Science (SPSS) software. In relation to the hypotheses of our study, the following analyzes were performed: Pearson's correlation coefficient (inter-rater agreement), Kappa coefficient (inter-rater agreement on items and inter-rater agreement on the established diagnosis), Alpha of Cronbach (Internal Consistency) and Principal Component Analysis (PCA)ResultsOf the 62 participants included, three met the diagnostic criteria for sexual sadism (4 or more criteria, 4.84%). The distribution of scores indicates that the 95% of the sample had 2 items or less, and the remaining 5% had 6 or more items. Of the 11 items in SESAS, the Pearson's correlation coefficient (r) is significant (r = 0.76, p < 0.001) and indicates a satisfactory positive association. Alpha of Cronbach is very satisfactory (α = 0.86). The items in the scale tend to represent a good internal consistency, meaning that the scale is in adequacy with the object of its measurement: the latent profile of sexual sadism. From the Principal Component Analysis, A two-factor structure can not be retained.ConclusionsFrom this study, we were able to propose the French version of the SESAS as a useful scale in the evaluation of sexual sadism in a forensic population. We confirm the dimensional aspect of sexual sadism, as it tends to be described in the DSM-5 which distinguishes paraphilia from paraphilic disorder. Moreover, we show here, following the original studies, that an evaluation of sexual sadism based on the crime scene behavioral indicators allows to limit the bias of the idiosyncratic approaches, marked by the inference of individual's sadistic motivations and fantasies.     

Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi,Opitz GBBB,and Baraitser-Winter syndromes

The SPECC1L protein plays a role in adherens junctions involved in cell adhesion, actin cytoskeleton organization, microtubule stabilization, spindle organization and cytokinesis. It modulates PI3K-AKT signaling and controls cranial neural crest cell delamination during facial morphogenesis. SPECC1L causative variants were first identified in individuals with oblique facial clefts. Recently, causative variants in SPECC1L were reported in a pedigree reported in 1988 as atypical Opitz GBBB syndrome. Six families with SPECC1L variants have been reported thus far. We report here eight further pedigrees with SPECC1L variants, including a three-generation family, and a further individual of a previously published family. We discuss the nosology of Teebi and GBBB, and the syndromes related to SPECC1L variants. Although the phenotype of individuals with SPECC1L mutations shows overlap with Opitz syndrome in its craniofacial anomalies, the canonical laryngeal malformations and male genital anomalies are not observed. Instead, individuals with SPECCL1 variants have branchial fistulae, omphalocele, diaphragmatic hernias, and uterus didelphis. We also point to the clinical overlap of SPECC1L syndrome with mild Baraitser-Winter craniofrontofacial syndrome: they share similar dysmorphic features (wide, short nose with a large tip, cleft lip and palate, blepharoptosis, retrognathia, and craniosynostosis), although intellectual disability, neuronal migration defect, and muscular problems remain largely specific to Baraitser-Winter syndrome. In conclusion, we suggest that patients with pathogenic variants in SPECC1L should not be described as “dominant (or type 2) Opitz GBBB syndrome”, and instead should be referred to as “SPECC1L syndrome” as both disorders show distinctive, non overlapping developmental anomalies beyond facial communalities.     

Refining the diagnostic boundaries of compulsive hoarding: A critical review

Like most human behaviors, saving and collecting possessions can range from totally normal and adaptive to excessive or pathological. Hoarding, or compulsive hoarding, are some of the more commonly used terms to refer to this excessive form of collectionism. Hoarding is highly prevalent and, when severe, it is associated with substantial functional disability and represents a great burden for the sufferers, their families, and society in general. It is generally considered difficult to treat. Hoarding can occur in the context of a variety of neurological and psychiatric conditions. Although it has frequently been considered a symptom (or symptom dimension) of obsessive–compulsive disorder, and is listed as one of the diagnostic criteria for obsessive–compulsive personality disorder, its diagnostic boundaries are still a matter of debate. Recent data suggest that compulsive hoarding can also be a standalone problem. Growing evidence from epidemiological, phenomenological, neurobiological, and treatment studies suggests that compulsive hoarding may be best classified as a discrete disorder with its own diagnostic criteria.