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.
View Article and Find Full Text PDFAutism 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.
View Article and Find Full Text PDFAutomated 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.
View Article and Find Full Text PDFIntroduction: 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.
View Article and Find Full Text PDFAtypical 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.
View Article and Find Full Text PDFChildren 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.
View Article and Find Full Text PDF22q11.2DS is one of the more frequent genetic syndromes associated to psychiatric symptoms. It has been associated to an increased risk to develop schizophrenia in adolescence or early adulthood.
View Article and Find Full Text PDFBackground: 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.
View Article and Find Full Text PDF22q11.2 microduplication (22q11.2DupS) is associated with a broad spectrum of phenotypes, including normality.
View Article and Find Full Text PDFAutism 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.
View Article and Find Full Text PDFAutism 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.
View Article and Find Full Text PDFBackground: 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.
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).
View Article and Find Full Text PDFPatients 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.
View Article and Find Full Text PDFAutism 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.
View Article and Find Full Text PDFWest 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.
View Article and Find Full Text PDFBackground: Specific language impairment (SLI) is a primary developmental disorder in which language is significantly more impaired than other developmental domains. Abnormal electroencephalographic recordings without clinical seizures are often observed. The aim of this retrospective study was to characterize the frequency of these abnormalities, to describe them and to analyze their association with anamnestic, clinical, paraclinical and evolution characteristics.
View Article and Find Full Text PDFTEDIS, 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.
View Article and Find Full Text PDFDevelopmental disability/mental retardation is a major public health problem and a common cause of consultation in pediatrics, neuropediatrics, and genetics. Etiologies of mental retardation are highly heterogeneous. Diagnostic strategies have been explored in a small number of consensus publications, essentially from English-speaking countries.
View Article and Find Full Text PDFThis 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.
View Article and Find Full Text PDFBackground: We have previously developed the FAQ self-report, an adaptation of the Baron-Cohen's Autism Quotient self-report, in order to detect traits of the autistic spectrum in the parents and siblings of children with autism. We have previously shown that parents of children with autism show significant differences in their global scores and in their social functioning scores according to their answers to the FAQ self-report.
Objective: Our aim was to validate the FAQ self-report in a population of control parents, and to confirm our previous results concerning parents of children with autism.
Stud Health Technol Inform
December 2010
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.
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