Les comorbidités cliniques de l'autisme : une interface entre le syndrome autistique et ses causes

Successive definitions of autism did not reduce the extent of its clinical heterogeneity. This limits progress in understanding its etiological basis and the implementation of targeted therapeutic strategies. Comorbid disorders with autism are a complex issue because their frequency is one of the core features of clinical heterogeneity. We hypothesize that they are a better etiological clue than behavioral clinical syndromes. Our first study explores the initial instinctive concerns of parents of autistic children based on 459 open-Labelled questionnaires. Parents identify a set of symptoms comorbid to autism at a very early stage in their child's development The second study lists all the pre, peri and neonatal risk factors which have a significant, although moderate, effect on autism. .The third study lists in great detail all of the major causes of autism in a clinical epidemiological sample of 183 children with a typical autism. The 36 genetic diagnoses represent 58% of all causes which leaves a significant proportion of neurodevelopmental disorders of environmental or cryptogenic origin. The clinical, genetic and environmental differences that we identified between a non-Syndromic and syndromic autism (with comorbidities) validate the hypothesis that comorbidities are linked to a more general dysfunction and contribute to distinguishing the etiologies and provide practical information on the prognosis. A dimensional approach which includes comorbid disorders is prone to establish a fine-Grained taxonomy that point to distinct etiopathological processes.Les comorbidités de l'autisme constituent une composante essentielle de son hétérogénéité clinique et étiologique. Nous faisons l'hypothèse qu'elles sont un meilleur indice étiologique que la clinique comportementale du syndrome autistique. Notre première étude explore ainsi les premiers signes d'inquiétude spontanée des parents d'enfants autistes, à partir de 459 questionnaires ouverts. Elle indique que ceux-Ci repèrent très précocement un ensemble de symptômes non spécifiques des interactions sociales qui devraient être inclus dans la description d'un phénotype autistique complexe. La seconde étude liste l'ensemble des facteurs de risque pré, péri, néonatals auxquels on assigne un effet significatif, bien que modéré, sur l'autisme. La troisième étude a permis de réaliser un descriptif détaillé de l'ensemble des causes majeures, dans un échantillon clinique épidémiologique de 183 enfants présentant un autisme typique. Les 36 diagnostics génétiques retrouvés représentent 58% de l'ensemble des causes ce qui laisse proportion significative de troubles neurodéveloppementaux d'origine environnementale ou cryptogènique. La plupart des diagnostics sont rares et reflètent bien l'hétérogénéité étiologique de l'autisme, sans qu'il soit exclu que certaines causes ne convergent vers des mécanismes physiopathologiques communs. Les différences cliniques, génétiques et environnementales que nous identifions entre un autisme syndromique (avec comorbidités) et non syndromique valident l'hypothèse que les comorbidités contribuent à distinguer les étiologies et fournissent des informations pratiques sur le pronostique, une thérapeutique ciblée ou un diagnostic plus précoce

Situations complexes chez l’adulte avec déficience intellectuelle sévère - Un nouveau modèle d’accompagnement [Complex situations in adults with severe intellectual disabilities - A new support model]

Challenging behaviors constitute a real pitfall in supporting people with severe intellectual disabilities. Undermining patients and host institutions as well as psychiatric services, these crisis situations are usually underpinned by many factors including somatic, psychiatric, educational and environmental factors. New models, including the one developed by our team in Lausanne, offer a more specific approach for these complex cases, involving individualized, collaborative and multidisciplinary care to resolve the crisis but also for the overall improvement of the person's life course. This article aims to present the model set up by the Psychiatry Department of the CHUV (UPCHM unit)

Autism, Joint Hypermobility-Related Disorders and Pain

Autism Spectrum Disorder (ASD) and Joint Hypermobility-Related Disorders are blanket terms for two etiologically and clinically heterogeneous groups of pathologies that usually appears in childhood. These conditions are seen by different medical fields, such as psychiatry in the case of ASD, and musculoskeletal disciplines and genetics in the case of hypermobility-related disorders. Thus, a link between them is rarely established in clinical setting, despite a scarce but growing body of research suggesting that both conditions co-occur more often than expected by chance. Hypermobility is a frequent sign of hereditary disorders of connective tissue (e.g., Ehlers-Danlos syndromes, Marfan syndrome), in which the main characteristic is the multisystem fragility that prone to proprioceptive and motor coordination dysfunction and hence to trauma and chronic pain. Considering the high probability that pain remains disregarded and untreated in people with ASD due to communication and methodological difficulties, increasing awareness about the interconnection between ASD and hypermobility-related disorders is relevant, since it may help identify those ASD patients susceptible to chronic pain

Changes in the Use of Emergency Care for the Youth With Mental Health Problems Over Decades: A Repeated Cross Sectional Study

To understand whether changes exist in the types of youths mental health problems addressed in emergency in a context of increasing demand, we conducted a retrospective chart review in an emergency care outpatient unit. Data from children and adolescents admitted at four different time periods (years 1981, 1992, 2002, and 2017) were compared to determine trends in terms of patients' characteristics, nature of the mental health problems and final care decisions. Between 1981 and 2017 there was a 3.85 times increase in the annual number of patients presenting to the emergency consultations. The proportion of youths being referred for anxiety or depressive symptoms sharply increased over time, while no differences were found for the proportion of aggressive behaviors and suicidal attempts. Anxiety disorders became the most frequent discharge psychiatric disorder in youths admitted in the emergency unit, rising from 5% in 1981 to 34% in 2017. Significant changes were also observed in the source of referral to the emergency unit; in particular emergency consultations in 2017 were about twice as likely as in 1981 to be requested directly by the family. This data suggested that the increased use of emergency services observed over the last decades is associated with significant changes in the patient and his/her family's demands about mental health difficulties. Such findings are worth considering for mental health interventions that aim to address the emergency overcrowding issue

Mode of delivery, order of birth, parental age gap and autism spectrum disorder among Malaysian children: a case-control study

Rising prevalence of autism spectrum disorders (ASD) in the last decades has led research to focus on the diagnosis and identification of factors associated with ASD. This paper sought for possible factors that put children at risk for ASD. In this study, we investigated the association between ASD and parental ages, parental age gaps, birth order and birth delivery method in Malaysian population. In this school-based case control study, 465 children with ASD 464 controls participated. Questionnaires were distributed to the parents of the selected children through the respective principals. Among the tested variables, Caesarean section (OR = 1.63, 95% CI 1.20, 2.20), earlier order of birth in the family (OR = 0.68, 95% CI 0.59, 0.77) and increasing gap in parental ages (OR = 1.04, 95% CI 1.001, 1.07) were significantly associated with ASD. This study concludes that Caesarean section, earlier order of birth in the family and increasing gap in parental age are independent risk factors for developing autism among Malaysian children. *************************************

Fitness Consequences of Advanced Ancestral Age over Three Generations in Humans

A rapid rise in age at parenthood in contemporary societies has increased interest in reports of higher prevalence of de novo mutations and health problems in individuals with older fathers, but the fitness consequences of such age effects over several generations remain untested. Here, we use extensive pedigree data on seven pre-industrial Finnish populations to show how the ages of ancestors for up to three generations are associated with fitness traits. Individuals whose fathers, grandfathers and great-grandfathers fathered their lineage on average under age 30 were ~13% more likely to survive to adulthood than those whose ancestors fathered their lineage at over 40 years. In addition, females had a lower probability of marriage if their male ancestors were older. These findings are consistent with an increase of the number of accumulated de novo mutations with male age, suggesting that deleterious mutations acquired from recent ancestors may be a substantial burden to fitness in humans. However, possible non-mutational explanations for the observed associations are also discussed

Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders

Peer reviewe