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Automated behavior analysis are promising tools to overcome current assessment limitations in psychiatry. At 9 months of age, we recorded 32 infants with West syndrome (WS) and 19 typically developing (TD) controls during a standardized mother–infant interaction. We computed infant hand movements (HM), speech turn taking of both partners (vocalization, pause, silences, overlap) and motherese. Then, we assessed whether multimodal social signals and interactional synchrony at 9 months could predict outcomes (autism spectrum disorder (ASD) and intellectual disability (ID)) of infants with WS at 4 years. At follow-up, 10 infants developed ASD/ID (WS+). The best machine learning reached 76.47% accuracy classifying WS vs. TD and 81.25% accuracy classifying WS+ vs. WS−. The 10 best features to distinguish WS+ and WS− included a combination of infant vocalizations and HM features combined with synchrony vocalization features. These data indicate that behavioral and interaction imaging was able to predict ASD/ID in high-risk children with WS.

Summary Objective We aimed to assess a cohort of young patients with Dravet syndrome (DS) for intellectual disability (ID) and autism spectrum disorder (ASD) using standardized tools and parental questionnaires to delineate their specific profiles. Methods We included 35 patients with DS aged 24 months to 7 years, excluding patients with a developmental age (DA)

Propionic acidemia is the result of a deficiency in propionyl-CoA carboxylase activity. Chronic neurologic and cognitive complications frequently occur, but the psychiatric evolution of the disorder is not well documented. We conducted a pedopsychiatric evaluation of 19 children, adolescents and young adults, aged between 2 and 25 years, using ADI-R, CARS-T, as well as ADOS when autism spectrum disorder was suspected. Previous psychometric examinations were also taken into consideration. Thirteen patients had an IQ

This is the second of three papers that summarize the second symposium on Transition in Epilepsies held in Paris in June 2016. This paper addresses the outcome for some particularly challenging childhood-onset epileptic disorders with the goal of recommending the best approach to transition. We have grouped these disorders in five categories with a few examples for each. The first group includes disorders presenting in childhood that may have late- or adult-onset epilepsy (metabolic and mitochondrial disorders). The second group includes disorders with changing problems in adulthood (tuberous sclerosis complex, Rett syndrome, Dravet syndrome, and autism). A third group includes epilepsies that change with age (Childhood Absence Epilepsy, Juvenile Myoclonic Epilepsy, West Syndrome, and Lennox-Gastaut syndrome). A fourth group consists of epilepsies that vary in symptoms and severity depending on the age of onset (autoimmune encephalitis, Rasmussen's syndrome). A fifth group has epilepsy from structural causes that are less likely to evolve in adulthood. Finally we have included a discussion about the risk of later adulthood cerebrovascular disease and dementia following childhood-onset epilepsy. A detailed knowledge of each of these disorders should assist the process of transition to be certain that attention is paid to the most important age-related symptoms and concerns.

In the previous issue of the journal, Singletary proposed an integrative model of autism spectrum disorder, based on a considerable amount of data from different fields of knowledge such as clinical psychiatry, psychoanalysis, experimental psychology, neurobiology, neuroanatomy, or psychopharmacology [Singletary, W.M. (2015). An integrative model of autism spectrum disorder: ASD as a neurobiological disorder of experienced environmental deprivation, early life stress and allostatic overload. Neuropsychoanalysis, 17(2), 81–119]. We will briefly discuss this paper, with comments on three points of debate: 1) the author’s central hypothesis that neurobiological factors lead to the experience of environmental deprivation in autism, which we propose to reformulate using the terms “dysperception” or “dyssynchrony”; 2) the limits of the author’s speculative argumentation; and 3) the specificities of the psychoanalytic process and the influence of neuroscientific knowledge on the psychotherapeutic technique. Sing...

RESUMO O brincar primitivo do bebê poderia nos revelar traços precoces de uma provável organização autística em curso na criança pequena? Em que medida o investimento do bebê face aos objetos do mundo externo e do ambiente poderia ser associado a suas primeiras experiências com o objeto materno? Tais questões são levantadas neste artigo, cujo principal objetivo é abordar o processo de subjetivação da criança autista a partir da correlação entre o brincar primitivo do bebê e o brincar simbólico da criança. Por meio de um estudo longitudinal de bebês com risco de autismo, constatou-se que, desde uma idade precoce, é possível detectar particularidades na maneira como eles investem e interagem com os objetos do ambiente. ABSTRACT Could the primitive play of the baby reveal early traces of a probable autistic organization underway with the young child? To what extent the investment of the baby with regard to the objects of the external world and the environment could be associated with his first experiences with the maternal object? Such questions are addressed in this article, which main objective is to address the subjectivation process of autistic children, on basis of the relation between the early play of the baby and the symbolic play of the young child. Through a longitudinal study of infants showing risk of autism, it has been found that it is possible to detect at an early age peculiarities in the way they invest and interact with the objects of their environment.

West syndrome (WS) is a rare epileptic encephalopathy with early onset and a high risk of autistic outcome. The PréAut grid assesses this risk following WS onset by taking into account synchrony and emotion in interactions and by evaluating the baby's active desire to engage in pleasant interactions (especially the infant's early active behaviors that encourage being gazed at or kissed by the mother or to share joy with her). We followed a sample of 25 WS patients prospectively from disease onset and assessed whether the PréAut grid before 9 months, and the checklist for autism in toddlers (CHAT) at 18 and 24 months predicted autism or intellectual disability (ID) outcomes at 4 years. We found that the PréAut grid at 9 months (sensitivity = 0.83; specificity = 1) had similar prediction parameters as the CHAT at 18 months (sensitivity = 0.90; specificity = 0.83) and 24 months (sensitivity = 0.92; specificity = 1). WS patients with a positive PréAut screening at 9 months had a risk of having autism or ID at 4 years, which is 38 times that of children with a negative PréAut grid [OR = 38.6 (95 % CI 2.2-2961); p = 0.006]. We conclude that the PréAut grid could be a useful tool for the early detection of autism or ID risk in the context of WS. Further research is needed to assess the PréAut grid in other contexts (e.g. infants at high-risk for non-syndromic autism).

Introduction Autism features and various degrees of cognitive deficit are reported in patients with PCDH-19 mutations and epilepsy. Autism spectrum disorder (ASD) and, often, cognitive profile are usually assessed clinically. We studied autism phenotype and cognitive outcome in a series of patients using standardized tools for development and ASD. We aimed to describe the phenotype of ASD in this series and to understand whether ASD is strictly linked to intellectual disability (ID) or is present as a comorbidity. Methods Eight females aged 5 to 17 years old with PCDH-19 mutations and epilepsy were recruited. For ASD diagnosis, the Autism Diagnostic Interview — Revised (ADI-R) and the Autism Diagnosis Observation Schedule (ADOS) were administered. Patients underwent a neuropsychological examination with tests measuring global intellectual efficiency (WPPSI-III and WISC-IV), language, and executive and social cognition abilities. Parental adaptive behavioral questionnaires were also obtained (VABS, CBCL, and BRIEF). Results Six out of eight patients presented with ASD and ID. Two patients had neither ASD nor ID, and both had the latest age of onset for their epilepsy. All cognitive functions were deficient, but theory-of-mind abilities compared to other cognitive features were even impaired. Features of ASD lacked major repetitive and stereotyped behaviors and show some differences with the classical ASD features related to ID. Conclusion Our results show a large spectrum of ID and a very high rate of ASD in patients with epilepsy and PCDH-19 mutations. Autism spectrum disorder seems to be a genuine comorbidity, more than a consequence of ID. It highlights the importance of standardized psychiatric and cognitive evaluation in order to establish a tailored rehabilitation program.

This study focused on parents’ satisfaction with the special education and care services proposed to their child with autism spectrum disorders (ASD). Data were collected in three regions of France, using a questionnaire designed for the purpose of this study. Among the 530 families contacted, 212 filled in the questionnaire (response rate = 40.8%). Results showed that parents were globally satisfied with providers’ involvement and motivation, but they felt they were not involved enough in their child’s individualized program, that communication with providers was insufficient and that the services lacked ASD’s specific tools and interventions. Among all families interviewed, parents of adolescents were the most unsatisfied and we hypothesized that this could be due to the specific issues regarding developmental changes and concern about the future at this period of life. Congruently with the literature, variables related to parental overall satisfaction were a regular communication with professionals, a specific, regularly updated individual program in which parents are associated, and specialized tools and interventions. The implications of these findings are discussed as well as future directions for clinicians to improve service delivery and allow the persons with ASD and their families to be more involved in the services.

Research has shown a high rate of autism spectrum disorders among very low birth weight children over the past decade. This paper proposes a literature review on this topic. Two generations of research have followed one another. The first retrospective studies found a high rate of ASD among premature babies. The second generation of prospective studies underlined and relativized this risk. Prospective research using screening tools (M-CHAT) have found around 20 % ASD, whereas 2 studies assessing the actual diagnosis found 5 % and 8 % ASD, 10 to 12 times more than in the general population. A number of hypotheses have been put forward to explain these high rates of ASD: sensory impairment associated with prematurity, white matter abnormalities, and cerebellar impairment. The authors propose complex models that take into account neurological deficits and the effects of perinatal events on interactive dynamics between infants and their caregivers. These models aim to allow suitable prevention and care for premature children with autism, a heavy additional handicap.

Lisa Ouss-Ryngaert, Luis Alvarez, Anne Boissel, Autisme et prématurité : état des lieux [Autism and prematurity: State of the art], Archives de Pédiatrie, Volume 19, Issue 9, September 2012, Pages 970-975, ISSN 0929-693X, 10.1016/j.arcped.2012.06.007. (http://www.sciencedirect.com/science/article/pii/S0929693X12002771); International audience; Research has shown a high rate of autism spectrum disorders among very low birth weight children over the past decade. This paper proposes a literature review on this topic. Two generations of research have followed one another. The first retrospective studies found a high rate of ASD among premature babies. The second generation of prospective studies underlined and relativized this risk. Prospective research using screening tools (M-CHAT) have found around 20 % ASD, whereas 2 studies assessing the actual diagnosis found 5 % and 8 % ASD, 10 to 12 times more than in the general population. A number of hypotheses have been put forward to explain these high rates of ASD: sensory impairment associated with prematurity, white matter abnormalities, and cerebellar impairment. The authors propose complex models that take into account neurological deficits and the effects of perinatal events on interactive dynamics between infants and their caregivers. These models aim to allow suitable prevention and care for premature children with autism, a heavy additional handicap.; Dans la dernière décennie, des recherches ont mis en évidence la survenue de troubles du spectre autistique (TSA) chez les grands prématurés, en sus des troubles du développement déjà repérés. Deux générations de recherches se sont succédées. Celles de la première, rétrospectives, mettent en exergue un taux élevé de TSA dans les cohortes d'enfants prématurés. Les plus récentes, prospectives, encore peu nombreuses, soulignent ce risque tout en le relativisant. Les recherches utilisant des outils de screening trouvent des taux relativement élevés (autour de 20 %), tandis que 2 études évaluant le diagnostic actuel chez des enfants et des adultes observent des taux de 5 et 8 %, soit 10 à 12 fois celui de la population générale. Des hypothèses sont proposées pour expliquer ces taux élevés : atteintes sensorielles associées, lésions de la substance blanche, ou atteinte cérébelleuse. La revue de la littérature pousse à proposer des modèles complexes, prenant en compte autant les aspects neurologiques que la répercussion des événements périnatals sur la dynamique interactive entre le bébé et ses partenaires. Ces modèles doivent surtout permettre la mise en place d'un accompagnement et d'une prévention adaptés à ce handicap lourd surajouté.

Objective The recent discovery of the involvement of PCDH-19 gene in epilepsy in female with intellectual deficit and its cognitive consequences opened the research field in this area. Seizure types and EEG aspects are reported in a few series. However, neuropsychological and behavioural studies are not detailed. We aimed to better explore those aspects. Methods We assessed the intellectual, language, executive and emotional aspects with standardized psychometric tools in patients with PCDH-19. In addition, we proposed a detailed psychiatric evaluation and parental questionnaires. Results We included seven patients aged from 6 to 17 years. The analysis of cognitive profiles reveals scores ranging from 35 to 84 IQ points with a mental retardation in 6/7. Based on estimated ages, language and theory of mind are low for age. Those cognitive disabilities are associated with autism in 3/7 and non specified autism spectrum disorders in 3/7. One patient present an untypical profile with no MR or autistic features. Conclusion This study shows the negative impact of PCDH-19 mutation on cognitive behavioural and psychiatric development in addition to the burden of seizures. A specific follow-up and rehabilitation focusing on these aspects is recommanded.