Laurence Robel

Paris Descartes, CPSC | Paris 5 · department of child and adolescent psychiatry

Autism spectrum disorder (ASD) has a significant impact on the quality of life (QoL) of families. This study aimed to examine, for parents of children with ASD, the dyadic effect of each parent’s coping strategy on the perception of the impact of ASD on their QoL. In total, 164 couples completed self-report questionnaires, including the Par-DD-QoL,...

PurposeTo compare mothers and fathers perceptions of the impact of autism spectrum disorder on their Quality of Life (QoL), we used the Parental-Developmental Disorders-Quality of Life scale (Par-DD-QoL).Method The perception of QoL of mothers and fathers was compared for 130 pairs of parents of children with ASD and the associated variables were i...

TEDIS, an information system dedicated to patients affected with neuro-developmental disorders including autism, focuses on patient data generated during in-depth clinical assessment in nine expert centers in Ile-de-France region. Long term partnership involving methodologists and domain experts is necessary to support quality data production and a...

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 stud...

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 (vocalizat...

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...

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. The quality of these interactions i...

22q11.2DS 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. However, psychiatric symptoms appear early on, and should be recognized as soon as possible by child psychiatrists in order to improve the present well-be...

22q11.2 microduplication (22q11.2DupS) is associated with a broad spectrum of phenotypes, including normality. Psychiatric disorders are described in 13% of these patients, including Attention Deficit and Hyperactivity Disorder (ADHD), Intellectual Deficiency (ID), and Autism Spectrum Disorder (ASD), but not schizophrenia. We report changes in the...

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 ma...

A viewpoint from child psychiatry about the diagnosis of dysphsia Dysphasia is a severe and persistant disorder of oral language development. Usually, the effect on language development is said to be « specific », that is, something not traceable to an identifiable clinical cause. Because of the complexity of diagnosing dysphasia, we have felt it n...

The evaluation of the child in an autism ressource center. analysis of parental accounts using grounded theorisation Autism Ressource Centers (ARC) were created to fulfill families’ needs for a diagnostic evaluation of their child which was in conformity with current knowlege about Pervasive Developmental Disorders and in accordance with Public Hea...

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 in...

Les troubles dysphasiques, aussi appeles troubles specifiques du langage, sont des troubles dans lesquels les modalites normales d’acquisition du langage oral sont alterees des les premiers stades du developpement. Ces troubles ont des incidences majeures sur le developpement psychique et social de l’enfant. Les troubles du langage interrogent le m...

Specific language impairment (SLI), also called dysphasia, are ones in which the normal modes of oral language acquisition are altered in the very first stages of development. These troubles have serious effects on the psychic and social development of the child. Such language troubles make us look at the period preceding the establishment of langu...

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 an...

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 compa...

Introduction. Les neurosciences affectives et sociales suggèrent que des psycho-endo-phénotypes motivationnels et émotionnels seraient des marqueurs primaires de troubles des habiletés sociales dans l’autisme. Objectifs. L’objectif porte sur la détermination de marqueurs psychométriques émotionnels appréhendant la perturbation des habiletés cogniti...

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...

Background: There is an increasing interest in the behavioral impairments found in Autism Spectrum Disorder (ASD) and their cognitive and neurobiological substrates. Especially, recent accounts of ASD have emphasized the role of diminished social motivation, which, at the neural level, is construed in relation with impairments in the reward system,...

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 thi...

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 t...

Les troubles spécifiques du langage (TSLO) sont fréquemment associés à des anomalies paroxystiques infracliniques observées sur l’électroencéphalogramme. L’objectif de ce travail d’analyse rétrospective des dossiers de 35 enfants atteints d’un trouble spécifique du langage est de déterminer quelle proportion présente des anomalies paroxystiques éle...

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...

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 syst...

Since its original description, autism has been the subject of much controversy, in terms of its semiological definition, prevalence, aetiology, evolution, and the most effective treatment strategies. This study analyses the principal factors,which contribute to the origin and progression of this controversy, including a heterogeneity of clinical s...

Although symptoms of autism are often recognised by parents from the age of 18 months, diagnosis is rarely conducted before the age of three. This includes identification of symptoms, a functional diagnosis of the child's cognitive, language and psychomotor abilities, and an aetiological diagnosis based on neurogenetic investigations. Although trea...

Developmental 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. In...

La déficience intellectuelle (ou retard mental) est un problème majeur de santé publique, et une cause commune de consultation de pédiatrie, de neuropédiatrie et de génétique. La déficience intellectuelle est un état particulièrement hétérogène au plan étiologique. Les stratégies d’investigations ont fait l’objet par le passé d’un petit nombre de p...

Résumé : Les troubles spécifiques du langage (TSLO) sont fréquemment associés à des ano- malies paroxystiques infracliniques observées sur l’électroencéphalogramme. L’objectif de ce travail d’analyse rétrospective des dossiers de 35 enfants atteints d’un trouble spécifique du langage est de déterminer quelle proportion présente des anomalies paroxy...

This study presents a preliminary investigation into the automatic assessment of language-impaired children's (LIC) prosodic skills in one grammatical aspect: sentence modalities. Three types of language impairments were studied: autism disorder (AD), pervasive developmental disorder-not otherwise specified (PDD-NOS), and specific language impairme...

Nous avons précédemment développé l’autoquestionnaire FAQ, un outil adapté à partir de l’autoquestionnaire AQ de S. Baron-Cohen, destiné à mettre en évidence des endophénotypes appartenant au spectre autistique chez les apparentés de sujets autistes. Nous avons montré que les réponses des parents d’enfants autistes différaient de celles des parents...

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 socia...

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 7.5 with an average of 6.3. Preliminary patient data analysis highlighted the need of improving the data collectio...

The superior temporal lobe is nowadays in the heart of the reflections about infantile autism, psychopathologic disorder which appears to be the deepest failure of access to intersubjectivity (with the impossibility to accept that other one exists as other).This process of access to intersubjectivity seems to involve the superior temporal lobe beca...

Background: Vesicle-associated membrane protein 7 (VAMP7/TI-VAMP/SYBL1) with syntaxins form an active SNARE complex and it is required for exocytosis involved in neurite growth. Recently, polymorphisms of syntaxin 1A (STX1A) gene were found associated to autism, by transmission disequilibrium test (TDT) analysis of 249 AGRE trios. Objectives: Our...

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. The prevalence of the autis...

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...

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. In...

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 2 years, is an important challenge, because early treatments are more efficient in helping children t...

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 2 years, is an important challenge, because early treatments are more efficient in helping children t...

Background: Beta-neurexin and neuroligin molecules form an intercellular adhesion complex sufficient to trigger formation of functional presynaptic elements. Mutations and copy number variants have been identified in neurexin 1 (NRXN1) and neuroligins 3 & 4 (NLGN3 & NLGN4) genes in autistic patients. Objectives: Our goal is to identify association...

Actuellement, il n'existe aucun consensus sur la necessite de realiser une IRM dans l'autisme. Cet article resume les resultats d'une etude IRM sur 140 enfants et adolescents autistes non syndromiques et sans autres maladies. Deux neuro-radiologues ont visualise independamment les IRMs. Quarante % des IRM etaient anormales (N = 56) : anomalies temp...

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. Access to intersubjectivity seems to involve the superior temporal lobe, which...

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 N...

Autism (MIM#209850) and schizophrenia (MIM#181500) are both neurodevelopmental psychiatric disorders characterized by a highly genetic component. Homeogenes and forkhead genes encode transcription factors, which have been involved in brain development and cell differentiation. Thus, they are relevant candidate genes for psychiatric disorders. Genet...

The 22q13.3 deletion syndrome (Online Mendelian Inheritance in Man No. 606232) is a neurodevelopmental disorder that includes hypotonia, severely impaired development of speech and language, autistic-like behavior, and minor dysmorphic features. Although the number of reported cases is increasing, the 22q13.3 deletion remains underdiagnosed because...

Mutations in the AP1S2 gene, encoding the sigma1B subunit of the clathrin-associated adaptor protein complex (AP)-1, have been recently identified in five X-linked mental retardation (XLMR) families, including the original family with Fried syndrome. Studying four patients in two unrelated families in which AP1S2 nonsense and splice-site mutations...

We investigated the recognition of pairs of faces (same or different facial identities and expressions) in two groups of 14 children aged 6-10 years, with either an expressive language disorder (ELD), or a mixed language disorder (MLD), and two groups of 14 matched healthy controls. When looking at their global performances, children with either ex...

BILINGUALISM AND LANGUAGE TROUBLES IN THE CHILD : A RETROSPECTIVE STUDY While bilingualism is usually viewed as an asset, what is its influence on children with difficulties ? In order to answer this question, we show the results of a retrospective study on forty-seven 3 to 6 years old children with language disorders that where evaluated in our ou...

while bilingualism is usually viewed as an asset, what is its influence on children with difficulties ? In order to answer this question, we show the results of a retrospective study on forty-seven 3 to 6 years old children with language disorders that where evaluated in our outpatient clinic over a period of two years. Our aim was to compare the c...

L’autisme est une pathologie du développement psychoaffectif d’origine polyfactorielle, associant une composante génétique et environnementale. Les facteurs de vulnérabilité génétique impliqués dans l’autisme pourraient également contribuer aux troubles du langage ou de la socialisation, dont la fréquence est accrue chez les apparentés de sujets au...

Autism is characterized by impairments in communication and socialization and by the presence of circumscribed and stereotyped interest. Previous studies have shown that genetic mechanisms may enhance the vulnerability to autism. These mechanisms are complex and may involve the combination of several genes, in interaction with the environment. The...

Two independent studies have described bilateral temporal hypoperfusion in autistic children. Temporal regions are implicated in social perception, language, and "theory-of-mind," abilities that are impaired in autism. We investigated a putative relationship between cerebral blood flow (rCBF) measured at rest and clinical profile of 45 autistic chi...

AUTISM AND GLUTEN : MYTHS AND REALITIES A growing number of families subject their autistic children to specific diets without gluten or casein in the hope of alleviating the troubles from which they suffer. These diets have been set in place to respond to various physiopathological hypotheses of which none has yet been clearly proven. In this arti...

Autism is a pervasive developmental disorder (PDD) characterized by the association of communication and socialization impairments, and by repetitive stereotyped behaviours. The Minnesota Test of Affective Processing (MNTAP) was used to investigate the discrimination of face identities and face expressions by autistic children. Young children in th...

To identify genes regulated by homeoprotein transcription factors in postnatal neurons, the DNA-binding domain (homeodomain) of Engrailed homeoprotein was internalized into rat cerebellum neurons. The internalized homeodomain (EnHD) acts as a competitive inhibitor of Engrailed and of several homeoproteins (Mainguy et al., 2000). Analysis by differe...

Homeodomain-containing genes of the Dlx family are expressed in the developing basal ganglia. To investigate the role of Dlx genes during development, we studied their cellular localization in primary cultures of embryonic basal telencephalon, and examined the changes in cellular phenotypes resulting from blockade of Dlx-2 expression. Cells contain...

Dissociated primary cultures from rat telencephalon at different developmental stages were used to study the effect of basic fibroblast growth factor (FGF2) on Otx2, Dlx1, and Emx1, three homeobox genes expressed in different regions of the developing mammalian forebrain. At embryonic day (E)13.5. the regional pattern of expression of Otx1, Otx2, D...

Two patients with a slowly progressive and severe motor apraxia are presented. In one case, there was only apraxia; in the other there was moderate memory disturbance and a mild decline of global intellectual ability, suggesting a more widespread cognitive dysfunction. In this second case, recognition of the correct use of objects was also severely...

Even though the short-term actions of dopamine on postsynaptic receptors are well-characterized, the molecular bases for long-term trophic interactions between dopamine neurons and their targets remain unclear. Since protein-tyrosine phosphorylation plays a key role in the action of trophic factors, we have investigated its possible involvement in...