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Autism spectrum disorders (ASDs) are common, heritable neurodevelopmental conditions. The genetic architecture of ASDs is complex, requiring large samples to overcome heterogeneity. Here we broaden coverage and sample size relative to other studies of ASDs by using Affymetrix 10K SNP arrays and 1,181 [corrected] families with at least two affected individuals, performing the largest linkage scan to date while also analyzing copy number variation in these families. Linkage and copy number variation analyses implicate chromosome 11p12-p13 and neurexins, respectively, among other candidate loci. Neurexins team with previously implicated neuroligins for glutamatergic synaptogenesis, highlighting glutamate-related genes as promising candidates for contributing to ASDs.

Autism spectrum disorders (ASDs) are common, heritable neurodevelopmental conditions. The genetic architecture of ASDs is complex, requiring large samples to overcome heterogeneity. Here we broaden coverage and sample size relative to other studies of ASDs by using Affymetrix 10K SNP arrays and 1,181 [corrected] families with at least two affected individuals, performing the largest linkage scan to date while also analyzing copy number variation in these families. Linkage and copy number variation analyses implicate chromosome 11p12-p13 and neurexins, respectively, among other candidate loci. Neurexins team with previously implicated neuroligins for glutamatergic synaptogenesis, highlighting glutamate-related genes as promising candidates for contributing to ASDs.

Difficulties in face recognition contribute to social‐cognitive problems in autistic children. Evidence on behavioral interventions targeting this cognitive domain is limited. In non‐autistic individuals, a single exercise session is known to elicit temporary benefits for several cognitive functions. Our study investigates whether acute aerobic exercise influences face recognition in autistic children. In a randomized order, 29 participants completed a 20‐min moderately‐intense cycling bout on an ergometer and a control condition. Before and after each condition, participants categorized Mooney faces and instruments during a computerized cognitive task. Simultaneously, the N170 component of event‐related potentials and pupil size were recorded using electroencephalography and eyetracking, respectively. As indicated by a greater increase of reaction time in the exercise compared to the control condition, the results revealed impaired face recognition following aerobic exercise. This effect was accompanied by a lower decrease of the positive N170 amplitude and a trend towards a greater constriction of the pupil size in the exercise compared to the control condition. Our findings highlight the interplay of the physiological state and face recognition in autistic children. Exercise‐induced impairments in this social‐cognitive ability may be due to an interference with the learning effect that is typically seen for the structural encoding of faces. Lay Summary: Our findings indicate that a single aerobic exercise session temporarily impairs the ability to recognize faces in autistic children. On a neuronal level, this is due to a blocking of a learning effect that can be expected in difficult face recognition tasks. Following exercise, autistic children may experience an arousal level that is disadvantageous for social communication. [ABSTRACT FROM AUTHOR]

Abstract Background The gene encoding carboxyl-terminal PDZ ligand of neuronal nitric oxide synthase (NOS1AP) is located on chromosome 1q23.3, a candidate region for schizophrenia, autism spectrum disorders (ASD) and obsessive-compulsive disorder (OCD). Previous genetic and functional studies explored the role of NOS1AP in these psychiatric conditions, but only a limited number explored the sequence variability of NOS1AP. Methods We analyzed the coding sequence of NOS1AP in a large population (n = 280), including patients with schizophrenia (n = 72), ASD (n = 81) or OCD (n = 34), and in healthy volunteers controlled for the absence of personal or familial history of psychiatric disorders (n = 93). Results Two non-synonymous variations, V37I and D423N were identified in two families, one with two siblings with OCD and the other with two brothers with ASD. These rare variations apparently segregate with the presence of psychiatric conditions. Conclusions Coding variations of NOS1AP are relatively rare in patients and controls. Nevertheless, we report the first non-synonymous variations within the human NOS1AP gene that warrant further genetic and functional investigations to ascertain their roles in the susceptibility to psychiatric disorders.

Abstract Background Individuals with autism spectrum disorders (ASDs) often display symptoms from other diagnostic categories. Studies of clinical and psychosocial outcome in adult patients with ASDs without concomitant intellectual disability are few. The objective of this paper is to describe the clinical psychiatric presentation and important outcome measures of a large group of normal-intelligence adult patients with ASDs. Methods Autistic symptomatology according to the DSM-IV-criteria and the Gillberg & Gillberg research criteria, patterns of comorbid psychopathology and psychosocial outcome were assessed in 122 consecutively referred adults with normal intelligence ASDs. The subjects consisted of 5 patients with autistic disorder (AD), 67 with Asperger's disorder (AS) and 50 with pervasive developmental disorder not otherwise specified (PDD NOS). This study group consists of subjects pooled from two studies with highly similar protocols, all seen on an outpatient basis by one of three clinicians. Results Core autistic symptoms were highly prevalent in all ASD subgroups. Though AD subjects had the most pervasive problems, restrictions in non-verbal communication were common across all three subgroups and, contrary to current DSM criteria, so were verbal communication deficits. Lifetime psychiatric axis I comorbidity was very common, most notably mood and anxiety disorders, but also ADHD and psychotic disorders. The frequency of these diagnoses did not differ between the ASD subgroups or between males and females. Antisocial personality disorder and substance abuse were more common in the PDD NOS group. Of all subjects, few led an independent life and very few had ever had a long-term relationship. Female subjects more often reported having been bullied at school than male subjects. Conclusion ASDs are clinical syndromes characterized by impaired social interaction and non-verbal communication in adulthood as well as in childhood. They also carry a high risk for co-existing mental health problems from a broad spectrum of disorders and for unfavourable psychosocial life circumstances. For the next revision of DSM, our findings especially stress the importance of careful examination of the exclusion criterion for adult patients with ASDs.

Social adaptation requires specific cognitive and emotional competences. Individuals with high-functioning autism or with Asperger syndrome cannot understand or engage in social situations despite preserved intellectual abilities. Recently, it has been suggested that oxytocin, a hormone known to promote mother-infant bonds. may be implicated in the social deficit of autism. We investigated the behavioral effects of oxytocin in 13 subjects with autism. In a simulated ball game where participants interacted with fictitious partners, we found that after oxytocin inhalation, patients exhibited stronger interactions with .the most socially cooperative partner and reported enhanced feelings of trust and preference. Also, during free viewing of pictures of faces, oxytocin selectively increased patients' gazing time on the socially informative region of the face, namely the eyes. Thus, under oxytocin, patients respond more strongly to others and exhibit more appropriate social behavior and affect, suggesting a therapeutic potential of oxytocin through its action on a core dimension of autism. [ABSTRACT FROM AUTHOR]

Difficulties in face recognition contribute to social-cognitive problems in autistic children. Evidence on behavioral interventions targeting this cognitive domain is limited. In non-autistic individuals, a single exercise session is known to elicit temporary benefits for several cognitive functions. Our study investigates whether acute aerobic exercise influences face recognition in autistic children. In a randomized order, 29 participants completed a 20-min moderately-intense cycling bout on an ergometer and a control condition. Before and after each condition, participants categorized Mooney faces and instruments during a computerized cognitive task. Simultaneously, the N170 component of event-related potentials and pupil size were recorded using electroencephalography and eyetracking, respectively. As indicated by a greater increase of reaction time in the exercise compared to the control condition, the results revealed impaired face recognition following aerobic exercise. This effect was accompanied by a lower decrease of the positive N170 amplitude and a trend towards a greater constriction of the pupil size in the exercise compared to the control condition. Our findings highlight the interplay of the physiological state and face recognition in autistic children. Exercise-induced impairments in this social-cognitive ability may be due to an interference with the learning effect that is typically seen for the structural encoding of faces., (© 2023 The Authors. Autism Research published by International Society for Autism Research and Wiley Periodicals LLC.)

Aims: Psychotic disorders are one of the main causes of chronic disability in young people. An at-risk mental state (ARMS) is represented by subclinical symptoms that precede the first episode of psychosis (FEP). The PsyYoung project aims to optimize the detection of an ARMS while reducing unnecessary psychiatric treatments. It investigates the effects of service changes on the referrals and outcomes of young people with ARMS or a FEP., Methods: Six psychiatric outpatient clinics in three cantons (Basel-Stadt, Vaud, and Geneva) participated in the project. They passed through an implementation phase including service changes and the adaptation of a standardized stepped care model for diagnosis and assessment, in addition to measures for increasing the awareness, networking and training of local professionals., Preliminary Results: All participating cantons had entered the implementation phase. By March 2023, there were 619 referrals to participating sites. A total of 163 patients (37% FEP and 31% ARMS) and 15 close relatives had participated in individual longitudinal assessments, and 26 patients participated in qualitative interviews., Conclusion: This national collaborative project addresses the issue of early intervention for emerging psychoses, and creates spaces for fruitful reflections and collaboration in Switzerland. The ultimate aim of PsyYoung is to harmonize clinical practices in early intervention of psychosis on a national level.

Approximately 2% of adolescents and young adults display symptoms indicating a high risk for psychotic disorders. Apart from a risk of 20-35% of developing a psychotic disorder, these individuals show high rates of persisting mental health problems and functional impairment, even in the absence of a psychotic transition. Treatment in specialized centers can improve outcomes in these patients, but the need to provide timely access to care needs to be balanced against the risks of premature psychiatrization, stigmatization and unnecessary medication treatment. The transcantonal project PsyYoung aims to optimize early detection in young people, while at the same time minimizing unnecessary psychiatrization. This will be achieved through improved networking across the entire care chain and a stepped-care intervention approach., Competing Interests: Les auteurs n’ont déclaré aucun conflit d’intérêts en relation avec cet article.

Objective: Despite the recognition of the need for group-based training programmes for children and adolescents with autistic disorders, there are only very few specific German-speaking training programmes available. Since 2003, a structured group training programme on social skills for children and adolescents with high-functioning autism or Asperger syndrome has been developed and conducted at our department. The training programme focuses on the main deficits of those disorders. Thus, the primary goal is to improve communication and interaction skills., Method: Participants are children and adolescents without significant cognitive and language delays. Principles of intervention include structured formats, combination of theoretical and practical elements, predictable rules, consideration of individual difficulties, and sequential and progressive learning. Techniques range from structured games, the training of affect recognition, group activities, role play, team discussions, and feedback to homework using a newly designed manual on our group-based social skill training programme and curriculum. Generally, three groups of 5-7 participants each and of different age range (children, adolescents) meet weekly/biweekly for 1-1.5 hours (excluding the holidays). Two trainers--who change during the programme--carry out each of the sessions. Trainers meet regularly with the parents to discuss experiences and to provide details of the programme., Results: Acceptance by and satisfaction with the programme are high among participants, as is the mutual recognition of and tolerance of their respective problems. Both feedback from parents and trainers' clinical impressions indicate distinct improvement of verbalization and contact abilities. Participants seem to benefit particularly from role play., Conclusions: Qualtitative measures (impressions of the participants, their parents and their trainers with regard to change in behaviour skills) suggest mounting interaction, communication, and problem-solving skills during the group treatment. An ongoing pilot evaluation also includes measurements of effects in everyday settings. Depending on the results, the training subsequently could be conducted and evaluated in groups with both pervasive developmental, as well as other psychiatric disorders.