Investigating the borders of autism spectrum disorder: lessons from the former diagnosis of pervasive developmental disorder not otherwise specified.

Introduction: Autism Spectrum Disorder (ASD) diagnosis is relatively consensual in typical forms. The margins of the spectrum and their degree of extension, however, are controversial. This has far-reaching implications, which extend beyond theoretical considerations: first, peripheral forms of autism are more prevalent than central forms; second, we do not know how relevant typical-targeted recommendations are for atypical forms. In DSM-IV-TR, these margins of autism were studied within the category of Pervasive Developmental Disorder - Not Otherwise Specified (PDD-NOS). In spite of its low reliability, this former diagnosis was of particular interest to shed light on the gray area of margins. The aim of this systematic is therefore to investigate the clinical characteristics of PDD-NOS in comparison with Autistic Disorder. Method: A stepwise systematic PRISMA literature review was conducted by searching PubMed and Web Of Science databases to select corresponding studies. Results: The systematic review included 81 studies comprising 6,644 children with PDD-NOS. Cross-sectional and longitudinal studies comparing PDD-NOS and AD showed that PDD-NOS corresponds to milder form of autism with less impact and less associated disorder, with the exception of schizophrenia and mood disorder. Discussion: Our review challenges initial views of PDD-NOS, and shows the clinical relevance of this diagnosis when dealing with the margins of autism, and the de facto diversity included in the spectrum. However, in view of the many limitations of PDD-NOS (low reliability, instability through time, low acceptability), we suggest taxonomic changes in DSM-5: we introduce a new category based on three main dimensions related to socialization impairment, emotional lability and psychotic symptoms. Conclusion: Our review argues for a distinction between AD and PDD-NOS on clinical characteristics and thus highlights the need to study the margins of autism. While the limitations of the PDD-NOS category made it irrelevant to investigate these margins from a research perspective, we believe that a multidimensional approach for mental health professionals taping socialization, emotion lability and psychotic symptoms would be interesting. Our review therefore encourage future studies to test relevant criteria for a new category and possibly identify developmental trajectories, specific interventions and treatments.

Joint family consultations for psychiatric inpatients with severe eating disorders transitioning to adulthood: psychoanalytic design of a therapeutic setting.

While family work is acknowledged as relevant in the care of eating disorders (EDs), not much literature has explored it in the period of transition from adolescence to young adulthood (16-18 to 30 y.o.). Yet this period is of significant importance in the prognosis and evolution of EDs; but its particular stakes require specific therapeutic settings-especially for inpatient EDs. In this paper, we start from the paradoxical observation that some families refuse this type of work in its usual form, with a family-dedicated therapist, and require to only exchange with the psychiatrist in charge of the treatment plan. We use a psychosomatic-informed psychoanalytic approach to shed light on this refusal as a latent denial of the contribution of family dynamics to the current symptom, and an unconscious tendency to stick to a dependency-laden family scheme. We then explain the conception of a specifically dedicated therapeutic setting, designed to address this specific type of resistance, offered to families as a therapeutic compromise designed to give them a specific position in the care of their child. In our joint therapeutic consultations, family dynamics are addressed on the basis of exchanges regarding treatment and in particular feeding. While such exchanges start from medical considerations, the therapeutic couple (psychiatrist-psychologist) uses them to address the parent and patient expectations underlying the symptom. We propose to call this act "inscription"; it enables a separation from the underlying dependency-oriented family scheme, while stressing the importance to care for associated parental anxieties.

The Role of Denial in Vaccine Skeptics and "Anti-vax" Blame: A Psychodynamic Approach.

In this paper, we propose to account for the blame addressed to vaccine skeptics and "anti-vax" (VS and AV) by considering their attitude as the result of the psychological mechanism of denial, understood in a psychodynamic manner. To that effect, we draw on a secondary account of our clinical experience in two hospital units (psychiatry and intensive care unit), and on openly available media material. First, we lay out how VS and AV can be understood as the result from fetishist risk denial, a specific psychological transaction with an object by which VS and AV people feel intimately protected; this object is viewed as so powerful that its protection makes the vaccine appear irrelevant. Second, we show how this mechanism can explain the specific content of the blame frequently addressed to VS and AV, who are reproached with being selfish by vaccinated people and caregivers. We contend that, contrary to common belief, they are thus blamed because they force others (and especially caregivers) to compensate their lack of self-protection and preservation, which derives from their exclusive relation to an almighty object. While such a relation accounts for the unwillingness to consider vaccination, it also explains the harshness of the blame voiced by caregivers, who feel helpless in most situations as they cannot effectively force VS and AV to take care of themselves and others.

Psychological effects of remote-only communication among reference persons of ICU patients during COVID-19 pandemic.

BACKGROUND: During COVID-19 pandemic, visits have been prohibited in most French ICUs. Psychological effects, for reference persons (RPs), of remote-only communication have been assessed. METHODS: All RPs of patients referred to ICU for COVID-19 were included. HADS, IES-R, and satisfaction were evaluated at admission, discharge/death, and 3 months. At 3 months, a psychologist provided a qualitative description of RPs' psychological distress. RESULTS: Eighty-eight RPs were included. Prevalence of anxiety and depression was 83% and 73% respectively. At 3 months, lower HADS decrease was associated with patient death/continued hospitalization, and/or sleeping disorders in RPs (p < 0.01). Ninety-nine percent RPs felt the patient was safe (9 [7; 10]/10 points, Likert-type scale), confident with caregivers (10 [9; 10]/10 points), and satisfied with information provided (10 [9; 10]/10 points). All RPs stressed the specific-type of "responsibility" associated with being an RP in a remote-only context, leading RPs to develop narrow diffusion strategies (67%) and restrict the array of contacted relatives to a very few and/or only contacting them rarely. 10 RPs (30%) related the situation to a prior traumatic experience. CONCLUSION: RPs experienced psychological distress and reported that being an RP in a remote-only communication context was a specific responsibility and qualified it as an overall negative experience. TRIAL REGISTRATION: NCT04385121 . Registered 12 May 2020. https://clinicaltrials.gov/ .

Joint Consultation by a Neurogeneticist of Movement Disorders and a Psychodynamic Psychotherapist: An Occasion for Subjectivization.

We set out to model a joint therapeutic setting meant to address both medical care and the transferential processes at stake in specialized neurogenetics consultations. Previous authors have explored joint consultation settings with a specialized physician and a psychodynamically oriented psychotherapist, however, few have attempted to provide a model of its transfero-countertransferential dynamics. We aim to do the latter by focusing on a subset of patients to whom such consultations are offered "on the spot." We want to explore situations in which they initially deny the transference's contribution to their complaint, when addressing it would instead prove to be beneficial to them, even medically speaking. Standard neurogenetics consultations put the physician in a double-bind position. These patients' conflicting complaint both manifests transferential expectations and denies them by adhering to medical elements. Since the physician's challenge is to avoid colluding with the patient's denial, a joint setting would enable him to address the medical content of the patient's complaint while simultaneously letting its transferential elements emerge, allowing for the psychotherapist to use them to induce subjective integration (subjectivization). We conceptualize this jointly induced subjectivization by drawing on Fain's work on primary hystericization of the complaint (inspired by Freud's late indications). We finish with an example of subjectivization of a family's complaint based on an adolescent's limb tremor, which had no genetic or neurological etiology. Its seemingly conversional nature appeared in light of her father's reaction to our subjectivizing response: his latent transference was likely underlying his daughter's symptom.

Vulnerability to Psychosis: A Psychoanalytical Perspective. The Paradigmatic Example of 22q11.2 Microdeletion Syndrome.

This paper outlines a psychoanalytic contribution to a growing research field in psychiatry: that of psychotic vulnerability, and the related neurogenetic modeling of schizophrenia. We explore this contribution by focusing on recent studies concerning a neurodevelopmental disorder, the 22q11.2 microdeletion syndrome - which comprises DiGeorge syndrome in particular. It is one of the most common rare genetic syndromes, and the patients that it affects present a very high rate of psychotic symptoms (between 30 and 40%). For this reason, it has sparked an increasing number of clinical research projects which give it a paradigmatic status, as much for psychotic vulnerability as for potential neurobiological and genetic markers of schizophrenia. This syndrome illustrates one of the major stakes in contemporary psychopathology: the articulation of clinical, neurocognitive, and genetic approaches in a pluri-disciplinary manner. We seek to show that psychoanalysis, when it participates in this articulation, opens up specific hypotheses and research perspectives. In particular, based on the epidemiological observation of the role of anxiety as a predictor for psychosis, we underline the potential relevance of psychoanalytically oriented differential clinical practice and the psychodynamics of anxiety: they can contribute to studies and clinical follow-up on the 22q11.2 microdeletion syndrome and, more widely, to research on the detection and prevention of psychotic vulnerability.

Psychosocial determinants associated with quality of life in people with usher syndrome. A scoping review.

Background: In Usher syndrome, deafness is congenital and blindness is acquired. Therefore, the progressive loss of one of the two senses forces individuals with this syndrome to reorganize their everyday tasks and relationships, creating new strategies to communicate, access information, and move within a given space. This reorganization can interfere with the subjects' capacity to build a good quality of life.Methods: We conducted a scoping review of both peer-reviewed and gray literature, to identify existing evidence of the role of psychosocial determinants on the quality of life of people with Usher syndrome.Results: Twenty-one references met the inclusion criteria. Findings suggest that people with Usher syndrome seem to adjust their life habits to their condition, maintaining hope for the future, and believe in their capacities to accomplish their goals in spite of the various difficulties they encounter. However, this scoping review highlights a lack of research on adaptive strategies, as well as a lack of knowledge concerning the integration of the syndrome in one's identity, the relations to caregivers, and the specificities of the psychotherapeutic support. More information on these topics would enable better-adjusted social, psychotherapeutic, and medical responses.Implications for rehabilitationUsher syndrome, a rare genetic disease, leads to deafblindness, a cluster of related multiple sensory disabilities. People with Usher encounter several obstacles in their daily life. It is also difficult to adapt to the progressive loss of hearing and sight.This paper proposes a scoping review: we identify the main adaptation strategies used by people with Usher Syndrome in order to become autonomous in spite of these obstacles. In becoming more autonomous, they come to a better quality of life.We summarize the most frequent adaptation strategies (at school, work, leisure, interpersonal relationships, etc.) to help programs aimed at rehabilitation for people with Usher syndrome, and to find unexplored research perspectives (e.g., psychotherapies).

Exome sequencing in clinical settings: preferences and experiences of parents of children with rare diseases (SEQUAPRE study).

Exome sequencing (ES) has revolutionized diagnostic procedures in medical genetics, particularly for developmental diseases. The variety and complexity of the information produced has raised issues regarding its use in a clinical setting. Of particular interest are patients' expectations regarding the information disclosed, the accompaniment provided, and the value patients place on these. To explore these issues in parents of children with developmental disorders and no diagnosis with known etiology, a multidisciplinary group of researchers from social and behavioral sciences and patient organizations conducted a mixed-methodology study (quantitative and qualitative) in two centers of expertise for rare diseases in France. The quantitative study aimed to determine the preferences of 513 parents regarding the disclosure of ES results. It showed that parents wished to have exhaustive information, including variants of unknown significance possibly linked to their child's disorder and secondary findings. This desire for information could be a strategy to maximize the chances of obtaining a diagnosis. The qualitative study aimed to understand the expectations and reactions of 57 parents interviewed just after the return of ES results. In-depth analysis showed that parents had ambivalent feelings about the findings whatever the results returned. The contrasting results from these studies raise questions about the value of the information provided and parents' high expectations regarding the results. The nature of parental expectations has emerged as an important topic in efforts to optimize accompaniment and support for families during the informed decision-making process and after disclosure of the results in an overall context of uncertainty.

A Lacanian Approach to Medical Demand, With a Focus on Pediatric Genetics: A Plea for Subjectivization.

Current psychological research on contemporary medicine, and in particular genetics, often targets the underpinnings of patients' attitudes and behaviors with respect to biomedical knowledge and healthcare practices. But few studies approach these underpinnings as manifestations of the unconscious, while so doing could (in particular) help understand patients' apparent difficulties to understand information, and to subsequently act accordingly (e.g., in making therapeutic decisions, etc.). We hypothesize that Lacan's (1966) remarks ("The place of psychoanalysis in medicine") on the transferential nature of the demand addressed by the patient (or his family) to the doctor can help account for these issues: demand filters medical information received from the practitioner, and thereby motivates subsequent decisions. In this paper, we try and shed light on this thesis, and focus on pediatric genetics. We start by describing the manifest doctor-patient-family relationship in the pediatric genetics consultation, in order to show where unconscious determinants can come to play a role (1). We then explain Lacan's theory of demand: what the patient unknowingly demands is knowledge (savoir), the object of which is the body of jouissance - the libidinal experience of one's body through the first libidinal exchanges with the Other of early infancy, whereby the subject is assigned by the Other (subjectification) a specific fantasmatic status organizing his desire. Patients' understanding and attitudes thus vary so greatly because of this pre-existing filter. Healing and cure are merely apparent objects of the medical demand, which is an invocative drive seeking knowledge on the cause of one's desire: medical demand is an instance of transference. Doctors should thus enable patient subjectivization, i.e., help them realize that their demand's genuine object lies in their pre-existing subjective coordinates (2). In pediatric genetics, apparently paradoxical family attitudes heavily draw on what G. Raimbault, drawing on Lacan, called implicit demand, the object of which is knowledge about the family fantasy giving shape to the guilt of possibly transmitting the disease. We give a clinical example, then show how the concept of demand helped us elaborate the core of a research project on the subjective effects of a genetic deafblindness handicap (3).

Guidelines for reporting secondary findings of genome sequencing in cancer genes: the SFMPP recommendations.

In oncology, the expanding use of multi-gene panels to explore familial cancer predisposition and tumor genome analysis has led to increased secondary findings discoveries (SFs) and has given rise to important medical, ethical, and legal issues. The American College of Medical Genetics and Genomics published a policy statement for managing SFs for a list of genes, including 25 cancer-related genes. Currently, there are few recommendations in Europe. From June 2016 to May 2017, the French Society of Predictive and Personalized Medicine (SFMPP) established a working group of 47 experts to elaborate guidelines for managing information given on the SFs for genes related to cancers. A subgroup of ethicists, lawyers, patients' representatives, and psychologists provided ethical reflection, information guidelines, and materials (written consent form and video). A subgroup with medical expertise, including oncologists and clinical and molecular geneticists, provided independent evaluation and classification of 60 genes. The main criteria were the "actionability" of the genes (available screening or prevention strategies), the risk evaluation (severity, penetrance, and age of disease onset), and the level of evidence from published data. Genes were divided into three classes: for class 1 genes (n = 36), delivering the information on SFs was recommended; for class 2 genes (n = 5), delivering the information remained questionable because of insufficient data from the literature and/or level of evidence; and for class 3 genes (n = 19), delivering the information on SFs was not recommended. These guidelines for managing SFs for cancer-predisposing genes provide new insights for clinicians and laboratories to standardize clinical practices.

The Lacanian Concept of Cut in Light of Lacan's Interactions with Maud Mannoni.

This article sets out to shed light on the Lacanian concept of cut (introduced in 1961-1962): it refers to the symbolic (i.e., linguistic) operation which produces the object a and thereby enables separation, through which the subject emerges. To that effect, we show how this concept benefitted from Lacan's interactions with Maud Mannoni (1923-1998), who focused on clinical situations where implementing a cut in the subject's environment is the only way to enable a separation between the child and the Other. Lacan first drew on Mannoni's clinical elaborations about the retarded child's alienation to the maternal fantasy: when the mother's unconscious doesn't leave room for the cut, it prevents the separation through which the child could become a subject. Lacan generalized this in the late 1960s: he broadened Mannoni's alienation to the maternal fantasy to characterize a type of child symptom, where children become their mother's non-separated, de-phallicized object a. Then, in the 1970s, Mannoni proposed an original theoretico-clinical setting to address the configurations where the object a isn't separated: in the splintered institution, the team follows on projects of activities (professional, personal, etc.) outside the institution voiced by children who haven't previously encountered the symbolic cut, by helping them realize these external projects. By thus acknowledging their attempts at establishing a cut and giving them consistency, the splintered institution helps them psychically elaborate separation.