Early-onset catatonia associated with mutations: looking at the autism spectrum through the prism of psychomotor phenomena.

Background: Individuals with Phelan-McDermid syndrome (PMS) present with a wide range of diagnoses: autism spectrum disorder, intellectual disability, or schizophrenia. Differences in the genetic background could explain these different neurodevelopmental trajectories. However, a more parsimonious hypothesis is to consider that they may be the same phenotypic entity.

Observational Cohort Study Dedicated to Autism Spectrum Disorder: Milestone Steps, Results Updates, Perspectives.

Autism Spectrum Disorder (ASD) is a neurodevelopmental condition characterized by persistent difficulties in two domains: social communication and interaction, alongside with restricted, repetitive pattern of behaviors. It affects children and persists into adolescence and adulthood. Its causes and underlying psychopathological mechanisms are unknown and remain to be discovered.

Behavior and interaction imaging at 9 months of age predict autism/intellectual disability in high-risk infants with West syndrome.

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.

Investigating the natural history and prognostic factors of ASD in children: the multicEntric Longitudinal study of childrEN with ASD - the ELENA study protocol.

Introduction: There is global concern about the increasing prevalence of autism spectrum disorders (ASDs), which are early-onset and long-lasting disorders. Although ASDs are considered to comprise a unique syndrome, their clinical presentation and outcome vary widely. Large-scale and long-term cohort studies of well-phenotyped samples are needed to better understand the course of ASDs and their determinants.

The Impact of Atypical Sensory Processing on Adaptive Functioning and Maladaptive Behaviors in Autism Spectrum Disorder During Childhood: Results From the ELENA Cohort.

Atypical sensory processing is common in autism spectrum disorders (ASD), but their role in adaptive difficulties and problem behaviors is poorly understood. Our aim was to determine the prevalence and type of atypical sensory processing in children with ASD and investigate its impact on their adaptive functioning and maladaptive behaviors. We studied a subsample of 197 children rigorously diagnosed with ASD from the ELENA cohort.

Behavioral training and mirroring techniques to prepare elective anesthesia in severe autistic spectrum disorder patients: An illustrative case and review.

Children with autistic spectrum disorder are more likely to become distressed during induction of anesthesia. Inhalational induction is almost always the preferred route with acceptance of the face mask often presenting a considerable challenge. Tempering measures to facilitate gas induction such as forced premedication and physical restraint are no longer viable options except in extenuating circumstances.

Children with mixed developmental language disorder have more insecure patterns of attachment.

Background: Developmental Language disorders (DLD) are developmental disorders that can affect both expressive and receptive language. When severe and persistent, they are often associated with psychiatric comorbidities and poor social outcome. The development of language involves early parent-infant interactions.

Strengthening Data Confidentiality and Integrity Protection in the Context of a Multi-Centric Information System Dedicated to Autism Spectrum Disorder.

Autism spectrum disorders (ASD) are complex neuro-developmental disorders affecting children in early age. Diagnosis relies on multidisciplinary investigations, in psychiatry, neurology, genetics, electrophysiology, neuro-imagery, audiology, and ophthalmology. To support clinicians, researchers, and public health decision makers, we developed an information system dedicated to ASD, called TEDIS.

Security Policy and Infrastructure in the Context of a Multi-Centeric Information System Dedicated to Autism Spectrum Disorder.

Autism spectrum disorders (ASD) are complex neuro-developmental disorders affecting children in their early age. The diagnosis of ASD relies on multidisciplinary investigations, in psychiatry, neurology, genetics, electrophysiology, neuro-imagery, audiology and ophthalmology. In order to support clinicians, researchers and public health decision makers, we designed an information system dedicated to ASD, called TEDIS.

Case report: an unexpected link between partial deletion of the SHANK3 gene and Heller's dementia infantilis, a rare subtype of autism spectrum disorder.

Background: Deletions and mutations involving the SHANK3 gene lead to a nonspecific clinical presentation with moderate to profound intellectual disability, severely delayed or absent speech, and autism spectrum disorders (ASD). Better knowledge of the clinical spectrum of SHANK3 haploinsufficiency is useful to facilitate clinical care monitoring and to guide molecular diagnosis, essential for genetic counselling.

Case Presentation: Here, we report a detailed clinical description of a 10-year-old girl carrying a pathogenic interstitial 22q13.

Tracking social motivation systems deficits: the affective neuroscience view of autism.

Abnormal functioning of primary brain systems that express and modulate basic emotional drives are increasingly considered to underlie mental disorders including autism spectrum disorders. We hypothesized that ASD are characterized by disruptions in the primary systems involved in the motivation for social bonding. Twenty adults with ASD were compared to 20 neurotypical participants on the basis of self-reports and clinical assessments, including the Social Anhedonia Scale (SAS) and the Affective Neuroscience Personality Scales (ANPS).

Patient information, consents and privacy protection scheme for an information system dedicated to pervasive developmental disorders.

Patients explicit and unambiguous information, patients consents and privacy protection are reviewed in this article, in the frame of the deployment of the information system TEDIS dedicated to autism spectrum disorders. The role of the Delegate to the Protection of Data is essential at this stage. We developed a privacy protection scheme based on storing encrypted patients personal data on the server database and decrypting it on the Web browser.

Subthreshold traits of the broad autistic spectrum are distributed across different subgroups in parents, but not siblings, of probands with autism.

Autism is a categorical developmental disorder characterized by impairment in socialization, communication, and by restricted and circumscribed interests. Several authors have described the presence of subthreshold autistic traits in the general population, pervasive developmental disorders representing the extreme end of their distribution. In this study, we explored the presence of autistic traits in siblings and parents of a proband with autism, and in siblings and parents of a normally developing child, using the previously validated self-report French Autism Quotient, an adaptation of the AQ developed by S.

Infant's engagement and emotion as predictors of autism or intellectual disability in West syndrome.

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.

TEDIS, Pervasive Developmental Disorder' patients information system, preliminary results.

TEDIS, an information system dedicated to patients with Pervasive Developmental Disorder (PDD) was tested. Results focused on the process of behavioural changes among physicians and health professionals with regard to structured organized patient information.The experiment encouraged changes in professionals' habits for further documenting and systematizing patient information collection.

Implementation and experimentation of TEDIS: an information system dedicated to patients with pervasive developmental disorders.

This article aims at describing the implementation and experimentation of TEDIS, an information system dedicated to patients with Pervasive Developmental Disorder. The experiment included 30 prospective patient records aged from 3.2 to 7.

TEDIS: an information system dedicated to patients with pervasive developmental disorders.

Pervasive Development Disorders (PDD) represent a life disorder which significantly affects individuals and families. It requires long term specialized institutions health care, education and social accompaniment. In France, 350,000 to 600,000 patients are estimated to be affected and 5,000 to 8,000 newborns will develop the disorder every year.

[Early recognition of autistic features].

Autism is a neurodevelopmental disorder diagnosed on the basis of three behaviorally altered domains: social deficits, impaired language and communication, and stereotyped and repetitive behaviors. The early recognition of the disorder, as early as two years, is an important challenge, because early treatments are more efficient in helping children to develop their adaptation skills, allowing their better integration in the society, with less suffering and a lower level of handicap. Therefore are described the symptoms that may lead first degree practioners to suspect autistic disorders as early as possible, and how they can help the children and their parents to be directed to the appropriate services for diagnostic and treatment.

[Evolution of the concept of autism].

Since it was originally described in 1943 by L. Kanner, the concept of autism has changed. Autistic disorder is now recognized as a pervasive developmental disorder diagnosed on the basis of three behaviorally altered domains: social deficits, impaired language and communication, and stereotyped and repetitive behaviors.

[Towards an integrated approach to infantile autism: the superior temporal lobe between neurosciences and psychoanalysis].

The superior temporal lobe is currently at the focus of intensive research in infantile autism, a psychopathologic disorder apparently representing the severest failure of access to intersubjectivity, i.e. the ability to accept that others exist independently of oneself.

MRI findings in 77 children with non-syndromic autistic disorder.

Background: The clinical relevance of MR scanning in children with autism is still an open question and must be considered in light of the evolution of this technology. MRI was judged to be of insufficient value to be included in the standard clinical evaluation of autism according to the guidelines of the American Academy of Neurology and Child Neurology Society in 2000. However, this statement was based on results obtained from small samples of patients and, more importantly, included mostly insufficient MRI sequences.