Papers by Sylvie Tordjman
International Journal of Molecular Sciences, Mar 12, 2017
Progress in epidemiological, molecular and clinical genetics with the development of new techniqu... more Progress in epidemiological, molecular and clinical genetics with the development of new techniques has improved knowledge on genetic syndromes associated with autism spectrum disorder (ASD). The objective of this article is to show the diversity of genetic disorders associated with ASD (based on an extensive review of single-gene disorders, copy number variants, and other chromosomal disorders), and consequently to propose a hierarchical diagnostic strategy with a stepwise evaluation, helping general practitioners/pediatricians and child psychiatrists to collaborate with geneticists and neuropediatricians, in order to search for genetic disorders associated with ASD. The first step is a clinical investigation involving: (i) a child psychiatric and psychological evaluation confirming autism diagnosis from different observational sources and assessing autism severity; (ii) a neuropediatric evaluation examining neurological symptoms and developmental milestones; and (iii) a genetic evaluation searching for dysmorphic features and malformations. The second step involves laboratory and if necessary neuroimaging and EEG studies oriented by clinical results based on clinical genetic and neuropediatric examinations. The identification of genetic disorders associated with ASD has practical implications for diagnostic strategies, early detection or prevention of co-morbidity, specific treatment and follow up, and genetic counseling.
Pharmacogenomics Journal, Jun 8, 2010
Three common missense variants of the Disrupted in Schizophrenia 1 (DISC1) gene, rs3738401 (Q264R... more Three common missense variants of the Disrupted in Schizophrenia 1 (DISC1) gene, rs3738401 (Q264R), rs6675281 (L607F) and rs821616 (S704C), have been variably associated with the risk of schizophrenia. In a case-control study, we examine whether these gene variants are associated with schizophrenia and ultra-resistant schizophrenia (URS) in a population of French Caucasian patients. The URS phenotype is characterized according to stringent criteria as patients who experience no clinical, social and/or occupational remission in spite of treatment with clozapine and at least two periods of treatment with distinct conventional or atypical antipsychotic drugs. We find a significant association between DISC1 missense variants and URS. The association with rs3738401 remains significant after appropriate correction for multiple testing. These results suggest that the DISC1 rs3738401 missense variant is statistically linked with ultra-resistance to antipsychotic treatment.
L'Encéphale, 2018
Revue de la littérature Les enfants à haut potentiel en difficulté : apports de la recherche clin... more Revue de la littérature Les enfants à haut potentiel en difficulté : apports de la recherche clinique Children with high potential and difficulties: Contributions of clinical research S. Tordjman a,b, * , L. Vaivre-Douret c,d,e,f,g , S. Chokron b,b , S. Kermarrec a,b a Centre national d'aide aux enfants et adolescents à haut potentiel (CNAHP), pôle hospitalo-universitaire de psychiatrie de l'enfant et de l'adolescent (PHUPEA), centre hospitalier Guillaume
La Psychiatrie de l'enfant, 2005
Contraste, Dec 1, 2006
Article disponible en ligne à l'adresse Article disponible en ligne à l'adresse https://www.cairn... more Article disponible en ligne à l'adresse Article disponible en ligne à l'adresse https://www.cairn.info/revue-contraste-2006-2-page-189.htm Découvrir le sommaire de ce numéro, suivre la revue par email, s'abonner... Flashez ce QR Code pour accéder à la page de ce numéro sur Cairn.info. remarquables isolés et un langage parfois conservé. Pourtant, d'après l'historien N. Carrey, c'est à Itard que l'on doit la première description de l'autisme dans son mémoire de 1828 sur le «mutisme produit par la lésion des fonctions intellectuelles» (Carrey, 1995). Depuis, différents modèles étiologiques ont été développés. Certains auteurs ont «rangé» l'autisme dans les schizophrénies infantiles, d'autres dans les encéphalopathies postvirales… Les diverses hypothèses étiopathogéniques proposées (psychodynamiques, psychobiologiques, géné-tiques…) varient selon les époques, les concepts et les progrès technologiques. Malgré les recherches qui se sont multipliées depuis plusieurs décennies, aucun modèle n'a réellement pu être retenu, aucun marqueur biologique identifié, aucun processus psychopathologique spécifique mis en évidence. Devant l'absence de résultats probants et de consensus, le recours au concept de «syndrome» est probablement le plus approprié pour caractériser l'autisme. L'autisme peut être considéré comme un trouble précoce et global du développement défini par le DSM-IV-TR et la CIM-10 en termes d'altération des interactions sociales ainsi que de la communication verbale et non verbale, et de stéréotypies comportementales ou idéiques. Mais l'on est d'emblée confronté au problème de l'hétérogénéité clinique du syndrome autistique, suggérant l'existence de «sous-types» ou de «sous-groupes» d'autisme. En effet, entre, d'une part, un enfant autiste ayant une absence totale de langage verbal et des stéréotypies comportementales et, d'autre part, un enfant autiste présentant un bon niveau de production langagière mais des troubles de la communication non verbale et des stéréotypies idéiques (ruminations, idées fixes et intérêts restreints), il semble que l'on ne soit pas en présence de la même pathologie et, pourtant, ces deux enfants répondent bien aux critères diagnostiques d'autisme. L'hétérogénéité des résultats biologiques (neuro-anatomiques, biochimiques ou génétiques) et leur difficulté de réplication semblent Sylvie TORDJMAN, David COHEN et Bernard GOLSE 190 Les études cérébrales neuro-anatomiques et fonctionnelles Les anomalies cérébelleuses Le cervelet est constitué d'un vermis médian, de deux hémisphères latéraux et de noyaux centraux. Il représente une zone d'intégration des informations visuelles, vestibulaires et proprioceptives permettant le repérage dans l'espace et l'équilibre. Le vermis cérébelleux jouerait un rôle dans les processus d'apprentissage (Leaton et Supple, 1971) et dans le contrôle des afférences et efférences auditives (Huang et Liu, 1991). État des connaissances actuelles et apports des recherches biologiques...
Neuroscience & Biobehavioral Reviews, Jun 1, 2018
HIGHLIGHTSA literature review of genetic disorders associated with autism is presented here.This ... more HIGHLIGHTSA literature review of genetic disorders associated with autism is presented here.This review shows a high genetic and etiological heterogeneity of autism.Underlying mechanisms possibly leading to a similar autism phenotype are discussed.Autism can be viewed as a behavioral syndrome rather than a specific categorical mental disorder.A multidimensional, dynamic and transnosographic approach is necessary. ABSTRACT Clinical and molecular genetics have advanced current knowledge on genetic disorders associated with autism. A review of diverse genetic disorders associated with autism is presented and for the first time discussed extensively with regard to possible common underlying mechanisms leading to a similar cognitive‐behavioral phenotype of autism. The possible role of interactions between genetic and environmental factors, including epigenetic mechanisms, is in particular examined. Finally, the pertinence of distinguishing non‐syndromic autism (isolated autism) from syndromic autism (autism associated with genetic disorders) will be reconsidered. Given the high genetic and etiological heterogeneity of autism, autism can be viewed as a behavioral syndrome related to known genetic disorders (syndromic autism) or currently unknown disorders (apparent non‐syndromic autism), rather than a specific categorical mental disorder. It highlights the need to study autism phenotype and developmental trajectory through a multidimensional, non‐categorical approach with multivariate analyses within autism spectrum disorder but also across mental disorders, and to conduct systematically clinical genetic examination searching for genetic disorders in all individuals (children but also adults) with autism.
Molecular Autism, Dec 1, 2013
Background: Autism spectrum disorders (ASD) and epilepsy frequently occur together. Prevalence ra... more Background: Autism spectrum disorders (ASD) and epilepsy frequently occur together. Prevalence rates are variable, and have been attributed to age, gender, comorbidity, subtype of pervasive developmental disorder (PDD) and risk factors. Recent studies have suggested disparate clinical and genetic settings depending on simplex or multiplex autism. The aim of this study was to assess: 1) the prevalence of epilepsy in multiplex autism and its association with genetic and non-genetic risk factors of major effect, intellectual disability and gender; and 2) whether autism and epilepsy cosegregate within multiplex autism families. Methods: We extracted from the Autism Genetic Resource Exchange (AGRE) database (n = 3,818 children from 1,264 families) all families with relevant medical data (n = 664 children from 290 families). The sample included 478 children with ASD and 186 siblings without ASD. We analyzed the following variables: seizures, genetic and non-genetic risk factors, gender, and cognitive functioning as assessed by Raven's Colored Progressive Matrices (RCPM) and Vineland Adaptive Behavior Scales (VABS). Results: The prevalence of epilepsy was 12.8% in cases with ASD and 2.2% in siblings without ASD (P <10-5). With each RCPM or VABS measure, the risk of epilepsy in multiplex autism was significantly associated with intellectual disability, but not with gender. Identified risk factors (genetic or non-genetic) of autism tended to be significantly associated with epilepsy (P = 0.052). When children with prematurity, pre-or perinatal insult, or cerebral palsy were excluded, a genetic risk factor was reported for 6/59 (10.2%) of children with epilepsy and 12/395 (3.0%) of children without epilepsy (P = 0.002). Finally, using a permutation test, there was significant evidence that the epilepsy phenotype co-segregated within families (P <10-4). Conclusions: Epilepsy in multiplex autism may define a different subgroup in terms of clinical characteristics and genetic risk.
The Journal of Pain, Dec 1, 2005
The aim of this randomized crossover study was to evaluate the impact of environmental and behavi... more The aim of this randomized crossover study was to evaluate the impact of environmental and behavioral interventions (EBI) on behavioral, physiologic, and biologic stress response during a weighing procedure in neonates. Three groups of 15 neonates included (A) gestational age (GA), <32 weeks; (B) GA, 32 weeks, 1 day to 36 weeks, 6 days; and (C) GA, >37 weeks. Each neonate experienced 2 weighing procedures with and without EBI. Pain was evaluated by using the Neonatal Infant Pain Scale (NIPS) and the Neonatal Pain and Discomfort Scale (EDIN). Heart rate and oxygen saturation were recorded. Salivary samples were obtained for cortisol assay. Cerebral tissue oxygenation index (TOI) was recorded with near-infrared spectroscopy. A significant decrease of NIPS and EDIN was observed with EBI versus control. Mean heart rate was lower with EBI. No difference in cortisol level changes was observed. For groups A and B, a trend of increased TOI was observed with EBI. We concluded that EBI during a nursing procedure provides a decrease in pain scores in preterm and term neonates with changes in heart rate. Perspective: This study evaluates the impact of combined environmental and behavioral interventions on pain responses in neonates during a weighing procedure. The results indicate a decrease in behavioral pain scores and in heart rate for preterm and term neonates and a trend in increased brain oxygenation depending on gestational age.
International Journal of Molecular Sciences, Apr 29, 2017
In mammals, the circadian clocks network (central and peripheral oscillators) controls circadian ... more In mammals, the circadian clocks network (central and peripheral oscillators) controls circadian rhythms and orchestrates the expression of a range of downstream genes, allowing the organism to anticipate and adapt to environmental changes. Beyond their role in circadian rhythms, several studies have highlighted that circadian clock genes may have a more widespread physiological effect on cognition, mood, and reward-related behaviors. Furthermore, single nucleotide polymorphisms in core circadian clock genes have been associated with psychiatric disorders (such as autism spectrum disorder, schizophrenia, anxiety disorders, major depressive disorder, bipolar disorder, and attention deficit hyperactivity disorder). However, the underlying mechanisms of these associations remain to be ascertained and the cause-effect relationships are not clearly established. The objective of this article is to clarify the role of clock genes and altered sleep-wake rhythms in the development of psychiatric disorders (sleep problems are often observed at early onset of psychiatric disorders). First, the molecular mechanisms of circadian rhythms are described. Then, the relationships between disrupted circadian rhythms, including sleep-wake rhythms, and psychiatric disorders are discussed. Further research may open interesting perspectives with promising avenues for early detection and therapeutic intervention in psychiatric disorders.
Medicine, Feb 1, 2016
Emergence of mental health problems in childhood can seriously affect further development of a ma... more Emergence of mental health problems in childhood can seriously affect further development of a man and thus hamper his adaptation to adult life. Children in residential institutions may be particularly vulnerable at risk of abnormal mental development, this includes so-called 'children's homes'. In the article we present an overview of the few studies carried out so far in the European residential institutions, including children's homes, over the years 1940-2011 in the UK, Germany, Romania, and Poland. Firstly, we briefly describe a classic research carried out in the world in the 1940s among children from children's homes. Secondly, we present a study conducted in the UK among children and youth from different age groups staying in residential institutions, including children's homes. Then we focus on studies carried out among children and adolescents form German residential institutions and on a group of preschool children from Romanian children's homes. At the end of the article we describe the first epidemiological study carried out in Poland on the population of children and young people staying in children's homes in Warsaw. The review of researches shows that children from day-care facilities are a population with a high prevalence of psychiatric disorder. Children and youth staying in residential institutions probably require specialized psychiatric, psychological and psychotherapeutic care.
Neuroscience & Biobehavioral Reviews, Jun 1, 2014
Many studies have examined effects of prenatal stress on pregnancy and fetal development, especia... more Many studies have examined effects of prenatal stress on pregnancy and fetal development, especially on prematurity and birthweight, and more recently long-term effects on child behavioral and emotional development. These studies are reviewed and their limitations are discussed with regard to definitions (including the concepts of stress and anxiety), stress measurements, samples, and control for confounds such as depression. It appears necessary to assess individual stress reactivity prospectively and separately at each trimester of pregnancy, to discriminate chronic from acute stress, and to take into consideration moderator variables such as past life events, sociocultural factors, predictability, social support and coping strategies. Furthermore, it might be useful to examine simultaneously, during but also after pregnancy, stress, anxiety and depression in order to understand better their relationships and to evaluate their specific effects on pregnancy and child development. Finally, further research could benefit from an integrated psychological and biological approach studying together subjective perceived stress and objective physiological stress responses in pregnant women, and their effects on fetal and child development as well as on mother-infant interactions.
World Academy of Science, Engineering and Technology, International Journal of Educational and Pedagogical Sciences, Jun 21, 2018
RePEc: Research Papers in Economics, 2016
Emergence of mental health problems in childhood can seriously affect further development of a ma... more Emergence of mental health problems in childhood can seriously affect further development of a man and thus hamper his adaptation to adult life. Children in residential institutions may be particularly vulnerable at risk of abnormal mental development, this includes so-called 'children's homes'. In the article we present an overview of the few studies carried out so far in the European residential institutions, including children's homes, over the years 1940-2011 in the UK, Germany, Romania, and Poland. Firstly, we briefly describe a classic research carried out in the world in the 1940s among children from children's homes. Secondly, we present a study conducted in the UK among children and youth from different age groups staying in residential institutions, including children's homes. Then we focus on studies carried out among children and adolescents form German residential institutions and on a group of preschool children from Romanian children's homes. At the end of the article we describe the first epidemiological study carried out in Poland on the population of children and young people staying in children's homes in Warsaw. The review of researches shows that children from day-care facilities are a population with a high prevalence of psychiatric disorder. Children and youth staying in residential institutions probably require specialized psychiatric, psychological and psychotherapeutic care.
Neuropsychiatrie De L'enfance Et De L'adolescence, Jul 1, 2012
Neuropsychiatrie De L'enfance Et De L'adolescence, Jul 1, 2012
IACAPAP 2012-20th World congress / Neuropsychiatrie de l'enfance et de l'adolescence 60S (2012) S... more IACAPAP 2012-20th World congress / Neuropsychiatrie de l'enfance et de l'adolescence 60S (2012) S64-S126-the audience will have an understanding of CFTSI as a clinical, early intervention for addressing the needs of traumatized children and families.
Neuropsychiatrie De L'enfance Et De L'adolescence, Jul 1, 2012
Neuropsychiatrie De L'enfance Et De L'adolescence, Jul 1, 2012
S11 family members). These novel, emergenic, phenomena may arise in the individual from interacti... more S11 family members). These novel, emergenic, phenomena may arise in the individual from interacting co-occurring traits or the interaction of underlying genetic and biological factors, and are exemplified by seizures and intellectual disability. Consideration of the role of emergence in autistic neurobiology and behavior complements a reductionist approach and may help illuminate the components and complexities of autism.
Archives De Pediatrie, Oct 1, 2009
The Journal of Pain, Dec 1, 2002
Pain expression in the neonate (NN) is affected by intrinsic and extrinsic factors (gestational a... more Pain expression in the neonate (NN) is affected by intrinsic and extrinsic factors (gestational and postconceptional age, states, and painful experiences). The impact of developmental care is discussed in relation to defined pain expression. The aim of this randomized crossover study was to determine the impact of developmental care on pain expression during a nursing intervention in preterm NNs. Nineteen preterm NNs (gestational age, 29 ؎ 1.8 weeks; body weight, 1212 ؎ 255 g) were included. Each NN experienced 2 randomly ordered diaper changes (with and without developmental support). Physiologic responses (heart rate, oxygen saturation, hypoxic events with SaO 2 less than 80%, bradycardia less than 80 beats/min) were studied during 3 periods: baseline, diaper change (time 0), and recovery period. Pain expression was evaluated with 2 pain scales: chronic pain with Echelle Douleur et Inconfort ([EDIN] or Pain and discomfort scale for newborns) at time B60 minutes, 0, ؉30 minutes, and ؉60 minutes and procedural pain with the Preterm Infant Pain Profile (PIPP) at time 0. Statistical analysis was conducted with a Wilcoxon nonparametric test. PIPP, EDIN 0, EDIN ؉ 30 minutes, and EDIN ؉ 60 minutes scores were significantly decreased with developmental care versus without developmental care: 8.7 ؎ 1.9 v 11.1 ؎ 2.36 (P < .01); 0.6 ؎ 0.5 v 3.2 ؎ 2.9 (P < .01); 0.33 ؎ 0.5 v 3.9 ؎ 2.5 (P < .001); 0.3 ؎ 3.4 v 3.4 ؎ 3 (P < .001), respectively. Hypoxic events rate was decreased with developmental care during the baseline and diaper change periods. The lowest oxygen saturation observed during the PIPP measure was significantly higher with developmental care (88.8% ؎ 3% v 81.8% ؎ 4%; P < .01). Developmental care significantly decreased the PIPP and EDIN pain scores and hypoxic events during a routine nursing intervention.
Journal of Child Psychology and Psychiatry, Sep 1, 1997
Plasma levels of the hypothalamo-pituitary-adrenal axis hormones beta-endorphin (BE), adrenocorti... more Plasma levels of the hypothalamo-pituitary-adrenal axis hormones beta-endorphin (BE), adrenocorticotropin hormone (ACTH), and cortisol were measured in autistic (N = 48), mentally retarded/cognitively impaired (MR/CI, N = 16), and normal control (N = 26) individuals. Comparison of log transformed data from the three groups revealed that levels of BE and ACTH were significantly higher (p &lt; .05) in the autistic individuals than in normal controls. The higher means in the autistic group were due to significantly higher plasma levels of BE and ACTH, indices of acute stress response, in the more severely affected individuals. The data support the idea that individuals with severe autism have a heightened response to acute stressors rather than chronic hyperarousal or elevated basal stress response system functioning.
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Papers by Sylvie Tordjman