Self-consciousness develops through a long process, from pre-reflexive consciousness relying on b... more Self-consciousness develops through a long process, from pre-reflexive consciousness relying on body perception, to "meta" self-awareness. It emerges from the imitative experience between children and their peers. This experience linked to the capacity to test structural similarities between oneself and others, is addressed according to the concept of interpersonal affordance. We hypothesize that the opportunity for co-actors to engage in a process of interpersonal coordination is underlined by their similarity in terms of morphological, behavioral and motor features. This experience can sustain the emergence of new affordances for objects for each co-actor, as well as new affordances in terms of joint actions. We apply this idea in the context of peer-mediated interventions (PMI) in autism spectrum disorder (ASD). We argue that, in PMI, an encounter between children with autism and similar peers would foster the opportunity to engage in a spontaneous process of interpersonal coordination. This process would enable the development of self-consciousness and the emergence of perception of interpersonal, self and other's affordances for children with autism. We conclude that metrics to assess morphological, behavioral and motor similarity should then be defined and used in future studies to test our hypothesis in children with autism versus TD children or between children with autism.
Ce travail revet la forme d'une problematique nee de notre experience clinique avec des adole... more Ce travail revet la forme d'une problematique nee de notre experience clinique avec des adolescentes presentant une anorexie mentale et plus largement avec des patients evoluant sur un registre limite. Nous avons aborde cette clinique sous l'angle de l'experience fraternelle (au sens large) et des mecanismes qui lui sont inherents. Dans un second temps, nous avons tente de faire un lien entre le processus en jeu dans l'experience fraternelle et la periode de l'adolescence ou l'engagement dans une relation a un double narcissique d'ordre fraternel semble participer d'une ligne de developpement qu'il s'agira de mettre en evidence en clinique. Cette inscription peut se reveler aussi existentielle qu'alienante et participer au declenchement de certains troubles a l'adolescence. Notons que cette double valence est fidele a ce qui emerge de l'examen du double qui se situe en effet sur une ligne de crete entre normal et pathologique. L...
School refusal. School refusal covers a very heterogeneous set of problems ranging from refusal o... more School refusal. School refusal covers a very heterogeneous set of problems ranging from refusal of schooling - in terms of engagement in learning or in situations of evaluation, in relation to knowledge - to school phobia or anxious school refusal. Furthermore, the clinical form of children and adolescents refusing school is determined by a wide range of factors - individual, family, school and cultural - that interact with each other and change over time. In the context of a multidimensional approach, the apprehension of school refusal involves a dialogue between the family, health professionals and the various players in national education. This approach makes it possible to think about the developmental trajectory of the child and lead to the establishment of a personalized care project.
Bureaux de Pusy Jean-Xavier. Discours de M. Bureaux de Pusy en prenant le fauteuil de président d... more Bureaux de Pusy Jean-Xavier. Discours de M. Bureaux de Pusy en prenant le fauteuil de président de l'Assemblée, lors de la séance du 2 février 1790. In: Archives Parlementaires de 1787 à 1860 - Première série (1787-1799) Tome XI - Du 24 décembre 1789 au 1er mars 1790. Paris : Librairie Administrative P. Dupont, 1880. p. 415
We report the case of an 8-year-old child with a complex neurodevelopmental disorder, including s... more We report the case of an 8-year-old child with a complex neurodevelopmental disorder, including severe developmental coordination disorder with dysgraphia, anxiety and depression, mild social functioning impairments, headache and chronic musculoskeletal pain, secondary to Ehlers–Danlos syndrome (EDS) hypermobility type. We explored whether wearing whole-body compressive garments (CGs) could improve his motor skills assessed through standardized and experimental procedures. In addition to the effectiveness of CGs on pain, we found partial improvements in his motor skills, specifically postural control, hand movements, and body schema representation, after wearing CGs for 15 days. During an experimental motor imitation task with a virtual tightrope walker, we found improvements in interpersonal synchronization with performances closer to those of typical developing (TD) controls. We conclude that CGs appear to be an innovative and interesting adjuvant treatment for motor skill impairm...
Annals of Physical and Rehabilitation Medicine, 2015
Disclosure of interest The authors have not supplied their declaration of conflict of interest. R... more Disclosure of interest The authors have not supplied their declaration of conflict of interest. References [1] Sinani C, Sugden DA, Hill EL. Gesture production in school vs. clinical samples of children with Developmental Coordination Disorder (DCD) and typically developing children. Research in
Children and adolescents with neurodevelopmental disorders often show complex developmental disor... more Children and adolescents with neurodevelopmental disorders often show complex developmental disorders, including multiple areas of dysfunction such as emotional regulation and behavior, school integration, and learning difficulties. These multidimensionally impaired children share some common features with children with autism spectrum disorders (ASDs). However, paradoxically, they could qualify as diagnostically homeless. Several proposals have been formulated to categorize subgroups of these children, whose diversity and overlap in clinical expression emphasize the importance of using a multidimensional assessment inscribed in a developmental perspective. Here, we review these different classification proposals and describe a multidimensional approach that, in addition to a categorical approach, could constitute a complementary point of view. We believe that this multidimensional perspective allows one to address the child holistically, taking into account his or her interactive e...
Neuropsychiatrie de l'Enfance et de l'Adolescence, 2019
Neuropsychiatrie de l'enfance et de l'adolescence xxx (2017) xxx-xxx Original article Comprehensi... more Neuropsychiatrie de l'enfance et de l'adolescence xxx (2017) xxx-xxx Original article Comprehension of conventional gestures in typical children, children with autism spectrum disorders and children with language disorders Compréhension des gestes conventionnels chez les enfants typiques, les enfants avec troubles du spectre autistique et les enfants ayant des troubles du langage oral
Children language disorders are a frequent reason of consultation. Language is not only a means o... more Children language disorders are a frequent reason of consultation. Language is not only a means of expression, knowledge and communication but it also contributes to psychic development. Its exploration is an integral part of children psychiatrical examination. Language disorders appear in very different situations and the polymorphism of the cases requires that the psychiatrist considers the disorder in a developmental
Neuropsychiatrie de l'Enfance et de l'Adolescence, 2012
suggested associations between TS and ADHD and antistreptococcal antibodies (PANDAS = pediatric a... more suggested associations between TS and ADHD and antistreptococcal antibodies (PANDAS = pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections). Since postinfectious autoimmune processes might generally play a role in the pathophysiology of neuropsychiatric disorders, we included antistreptolysin O (ASL-O) and antistreptodornase (ASD) in our routine laboratory measures in our outpatient clinic. Methods.-Determination of ASL and ASD titer in routine laboratory checkups in the outpatient clinic of the Department of Child and Adolescent Psychiatry at the University Hospital Ulm. Results.-Two hundred and fifty-eight measurements distributed on the following diagnoses: 57 tic disorders, 58 ADHD, 16 OCD, ten anxiety, 60 depression, 57 conduct disorder. Results revealed that the frequency of elevated ASL and/or ASD titer did not differ between diagnostic groups. Boys showed more often elevated titers than girls. Conclusion.-Neuroimmunological factors might contribute to the development of neuropsychiatric disorders in a subgroup of children, especially males, but does not seem to predispose specifically to tic disorders or ADHD.
Les troubles praxiques constituent un motif assez frequent de consultation en psychiatrie de l... more Les troubles praxiques constituent un motif assez frequent de consultation en psychiatrie de l'enfant, du fait notamment de leur retentissement sur les apprentissages. L'evaluation et la comprehension de tels troubles relevent d'une approche a la fois developpementale et integrative, qui doit prendre en compte les dimensions cognitive, langagiere et affective inherentes au fonctionnement global d'un enfant en interaction avec son environnement familial, social et en particulier scolaire. En effet, la diversite des formes de dyspraxie et le polymorphisme des tableaux cliniques rencontres necessitent la mise en oeuvre d'un travail de collaboration pluridisciplinaire. Cette demarche semble enfin paradigmatique du fonctionnement d'un psychiatre qui se doit d'integrer a ses connaissances et a sa pratique, aux cotes de la theorie psychodynamique, les apports de la psychologie cognitive, de la linguistique mais aussi de la genetique.
Background: Autism spectrum disorder (ASD) is a heterogeneous group of neurodevelopmental disorde... more Background: Autism spectrum disorder (ASD) is a heterogeneous group of neurodevelopmental disorders which core symptoms are impairments in socio-communication and repetitive symptoms and stereotypies. Although not cardinal symptoms per se, motor impairments are fundamental aspects of ASD. These impairments are associated with postural and motor control disabilities that we investigated using computational modeling and developmental robotics through human-machine interaction paradigms. Method: First, in a set of studies involving a human-robot posture imitation, we explored the impact of 3 different groups of partners (including a group of children with ASD) on robot learning by imitation. Second, using an ecological task, i.e. a real-time motor imitation with a tightrope walker (TW) avatar, we investigated interpersonal synchronization, motor coordination and motor control during the task in children with ASD (n= 29), TD children (n=39) and children with developmental coordination disorder (n= 17, DCD). Results: From the human robot experiments, we evidenced that motor signature at both groups' and individuals' levels had a key influence on imitation learning, posture recognition and identity recognition. From the more dynamic motor imitation paradigm with a TW avatar, we found that interpersonal synchronization, motor coordination and motor control were more impaired in children with ASD compared to both TD children and children with DCD. Taken together these results confirm the motor peculiarities of children with ASD despite imitation tasks were adequately performed. Discussion: Studies from human-machine interaction support the idea of a behavioral signature in children with ASD. However, several issues need to be addressed. Is this behavioral signature motoric in essence? Is it possible to ascertain that these peculiarities occur during all motor tasks (e.g. posture, voluntary movement)? Could this motor signature be considered as specific to autism, notably in comparison to DCD that also display poor motor coordination skills? We suggest that more work comparing the two conditions should be implemented, including analysis of kinematics and movement smoothness with sufficient measurement quality to allow spectral analysis.
Pervasive Developmental Disorder (PDD) is characterized by a triad of severe deficits and pervasi... more Pervasive Developmental Disorder (PDD) is characterized by a triad of severe deficits and pervasive impairments in developmental areas such as reciprocal interactions, communication skills and stereotyped behavior. PDD is mostly seen as a ''spectrum disorder'' with several variants and gradients. DSM IV (APA, 2000) distinguishes three main disorders: Autistic
2017 26th IEEE International Symposium on Robot and Human Interactive Communication (RO-MAN), 2017
Interactive Machine Learning considers that a robot is learning with and/or from a human. In this... more Interactive Machine Learning considers that a robot is learning with and/or from a human. In this paper, we investigate the impact of human social traits on the robot learning. We explore social traits such as age (children vs. adult) and pathology (typical developing children vs. children with autistic spectrum disorders). In particular, we consider learning to recognize both postures and identity of a human partner. A human-robot posture imitation learning, based on a neural network architecture, is used to develop a multi-task learning framework. This architecture exploits three learning levels : 1) visual feature representation, 2) posture classification and 3) human partner identification. During the experiment the robot interacts with children with autism spectrum disorders (ASD), typical developing children (TD) and healthy adults. Previous works assessed the impact on learning of these social traits at the group level. In this paper, we focus on the analysis of individuals separately. The results show that the robot is impacted by the social traits of these different groups' individuals. First, the architecture needs to learn more visual features when interacting with a child with ASD (compared to a TD child) or with a TD child (compared to an adult). However, this surplus in the number of neurons helped the robot to improve the TD children's posture recognition but not that of children with ASD. Second, preliminary results show that this need of a neurons surplus while interacting with children with ASD is also generalizable to the identity recognition task.
NR4A2, a member of the nuclear receptor superfamily, is involved in modulation of target gene tra... more NR4A2, a member of the nuclear receptor superfamily, is involved in modulation of target gene transcription, regulating several developmental processes such as regulation of cellular homeostasis, neuronal development, inflammation and carcinogenesis. 2q24.1 deletions are extremely rare, and only 1 patient with a de novo deletion encompassing only NR4A2 gene was reported so far. We report 3 additional patients with a de novo deletion encompassing NR4A2: 2 patients have deletions encompassing only NR4A2 gene and 1 patient has a deletion including NR4A2 and the first exon of GPD2. Our patients presented a neurodevelopmental disorder including language impairment, developmental delay, intellectual disability and/or autism spectrum disorder. We suggest that NR4A2 haploinsufficiency is implicated in neurodevelopmental disorder with high penetrance.
Although whole-exome sequencing (WES) is the gold standard for the diagnosis of neurodevelopmenta... more Although whole-exome sequencing (WES) is the gold standard for the diagnosis of neurodevelopmental disorders (NDDs), it remains expensive for some genetic centers. Commercialized panels comprising all OMIM-referenced genes called "medical exome" (ME) constitute an alternative strategy to WES, but its efficiency is poorly known. In this study, we report the experience of 2 clinical genetic centers using ME for diagnosis of NDDs. We recruited 216 consecutive index patients with NDDs in 2 French genetic centers, corresponded to the daily practice of the units and included non-syndromic intellectual disability (NSID, n = 33), syndromic ID (NSID = 122), pediatric neurodegenerative disorders (n = 7) and autism spectrum disorder (ASD, n = 54). We sequenced samples from probands and their parents (when available) with the Illumina TruSight One sequencing kit. We found pathogenic or likely pathogenic variants in 56 index patients, for a global diagnostic yield of 25.9%. The diagnos...
Self-consciousness develops through a long process, from pre-reflexive consciousness relying on b... more Self-consciousness develops through a long process, from pre-reflexive consciousness relying on body perception, to "meta" self-awareness. It emerges from the imitative experience between children and their peers. This experience linked to the capacity to test structural similarities between oneself and others, is addressed according to the concept of interpersonal affordance. We hypothesize that the opportunity for co-actors to engage in a process of interpersonal coordination is underlined by their similarity in terms of morphological, behavioral and motor features. This experience can sustain the emergence of new affordances for objects for each co-actor, as well as new affordances in terms of joint actions. We apply this idea in the context of peer-mediated interventions (PMI) in autism spectrum disorder (ASD). We argue that, in PMI, an encounter between children with autism and similar peers would foster the opportunity to engage in a spontaneous process of interpersonal coordination. This process would enable the development of self-consciousness and the emergence of perception of interpersonal, self and other's affordances for children with autism. We conclude that metrics to assess morphological, behavioral and motor similarity should then be defined and used in future studies to test our hypothesis in children with autism versus TD children or between children with autism.
Ce travail revet la forme d'une problematique nee de notre experience clinique avec des adole... more Ce travail revet la forme d'une problematique nee de notre experience clinique avec des adolescentes presentant une anorexie mentale et plus largement avec des patients evoluant sur un registre limite. Nous avons aborde cette clinique sous l'angle de l'experience fraternelle (au sens large) et des mecanismes qui lui sont inherents. Dans un second temps, nous avons tente de faire un lien entre le processus en jeu dans l'experience fraternelle et la periode de l'adolescence ou l'engagement dans une relation a un double narcissique d'ordre fraternel semble participer d'une ligne de developpement qu'il s'agira de mettre en evidence en clinique. Cette inscription peut se reveler aussi existentielle qu'alienante et participer au declenchement de certains troubles a l'adolescence. Notons que cette double valence est fidele a ce qui emerge de l'examen du double qui se situe en effet sur une ligne de crete entre normal et pathologique. L...
School refusal. School refusal covers a very heterogeneous set of problems ranging from refusal o... more School refusal. School refusal covers a very heterogeneous set of problems ranging from refusal of schooling - in terms of engagement in learning or in situations of evaluation, in relation to knowledge - to school phobia or anxious school refusal. Furthermore, the clinical form of children and adolescents refusing school is determined by a wide range of factors - individual, family, school and cultural - that interact with each other and change over time. In the context of a multidimensional approach, the apprehension of school refusal involves a dialogue between the family, health professionals and the various players in national education. This approach makes it possible to think about the developmental trajectory of the child and lead to the establishment of a personalized care project.
Bureaux de Pusy Jean-Xavier. Discours de M. Bureaux de Pusy en prenant le fauteuil de président d... more Bureaux de Pusy Jean-Xavier. Discours de M. Bureaux de Pusy en prenant le fauteuil de président de l'Assemblée, lors de la séance du 2 février 1790. In: Archives Parlementaires de 1787 à 1860 - Première série (1787-1799) Tome XI - Du 24 décembre 1789 au 1er mars 1790. Paris : Librairie Administrative P. Dupont, 1880. p. 415
We report the case of an 8-year-old child with a complex neurodevelopmental disorder, including s... more We report the case of an 8-year-old child with a complex neurodevelopmental disorder, including severe developmental coordination disorder with dysgraphia, anxiety and depression, mild social functioning impairments, headache and chronic musculoskeletal pain, secondary to Ehlers–Danlos syndrome (EDS) hypermobility type. We explored whether wearing whole-body compressive garments (CGs) could improve his motor skills assessed through standardized and experimental procedures. In addition to the effectiveness of CGs on pain, we found partial improvements in his motor skills, specifically postural control, hand movements, and body schema representation, after wearing CGs for 15 days. During an experimental motor imitation task with a virtual tightrope walker, we found improvements in interpersonal synchronization with performances closer to those of typical developing (TD) controls. We conclude that CGs appear to be an innovative and interesting adjuvant treatment for motor skill impairm...
Annals of Physical and Rehabilitation Medicine, 2015
Disclosure of interest The authors have not supplied their declaration of conflict of interest. R... more Disclosure of interest The authors have not supplied their declaration of conflict of interest. References [1] Sinani C, Sugden DA, Hill EL. Gesture production in school vs. clinical samples of children with Developmental Coordination Disorder (DCD) and typically developing children. Research in
Children and adolescents with neurodevelopmental disorders often show complex developmental disor... more Children and adolescents with neurodevelopmental disorders often show complex developmental disorders, including multiple areas of dysfunction such as emotional regulation and behavior, school integration, and learning difficulties. These multidimensionally impaired children share some common features with children with autism spectrum disorders (ASDs). However, paradoxically, they could qualify as diagnostically homeless. Several proposals have been formulated to categorize subgroups of these children, whose diversity and overlap in clinical expression emphasize the importance of using a multidimensional assessment inscribed in a developmental perspective. Here, we review these different classification proposals and describe a multidimensional approach that, in addition to a categorical approach, could constitute a complementary point of view. We believe that this multidimensional perspective allows one to address the child holistically, taking into account his or her interactive e...
Neuropsychiatrie de l'Enfance et de l'Adolescence, 2019
Neuropsychiatrie de l'enfance et de l'adolescence xxx (2017) xxx-xxx Original article Comprehensi... more Neuropsychiatrie de l'enfance et de l'adolescence xxx (2017) xxx-xxx Original article Comprehension of conventional gestures in typical children, children with autism spectrum disorders and children with language disorders Compréhension des gestes conventionnels chez les enfants typiques, les enfants avec troubles du spectre autistique et les enfants ayant des troubles du langage oral
Children language disorders are a frequent reason of consultation. Language is not only a means o... more Children language disorders are a frequent reason of consultation. Language is not only a means of expression, knowledge and communication but it also contributes to psychic development. Its exploration is an integral part of children psychiatrical examination. Language disorders appear in very different situations and the polymorphism of the cases requires that the psychiatrist considers the disorder in a developmental
Neuropsychiatrie de l'Enfance et de l'Adolescence, 2012
suggested associations between TS and ADHD and antistreptococcal antibodies (PANDAS = pediatric a... more suggested associations between TS and ADHD and antistreptococcal antibodies (PANDAS = pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections). Since postinfectious autoimmune processes might generally play a role in the pathophysiology of neuropsychiatric disorders, we included antistreptolysin O (ASL-O) and antistreptodornase (ASD) in our routine laboratory measures in our outpatient clinic. Methods.-Determination of ASL and ASD titer in routine laboratory checkups in the outpatient clinic of the Department of Child and Adolescent Psychiatry at the University Hospital Ulm. Results.-Two hundred and fifty-eight measurements distributed on the following diagnoses: 57 tic disorders, 58 ADHD, 16 OCD, ten anxiety, 60 depression, 57 conduct disorder. Results revealed that the frequency of elevated ASL and/or ASD titer did not differ between diagnostic groups. Boys showed more often elevated titers than girls. Conclusion.-Neuroimmunological factors might contribute to the development of neuropsychiatric disorders in a subgroup of children, especially males, but does not seem to predispose specifically to tic disorders or ADHD.
Les troubles praxiques constituent un motif assez frequent de consultation en psychiatrie de l... more Les troubles praxiques constituent un motif assez frequent de consultation en psychiatrie de l'enfant, du fait notamment de leur retentissement sur les apprentissages. L'evaluation et la comprehension de tels troubles relevent d'une approche a la fois developpementale et integrative, qui doit prendre en compte les dimensions cognitive, langagiere et affective inherentes au fonctionnement global d'un enfant en interaction avec son environnement familial, social et en particulier scolaire. En effet, la diversite des formes de dyspraxie et le polymorphisme des tableaux cliniques rencontres necessitent la mise en oeuvre d'un travail de collaboration pluridisciplinaire. Cette demarche semble enfin paradigmatique du fonctionnement d'un psychiatre qui se doit d'integrer a ses connaissances et a sa pratique, aux cotes de la theorie psychodynamique, les apports de la psychologie cognitive, de la linguistique mais aussi de la genetique.
Background: Autism spectrum disorder (ASD) is a heterogeneous group of neurodevelopmental disorde... more Background: Autism spectrum disorder (ASD) is a heterogeneous group of neurodevelopmental disorders which core symptoms are impairments in socio-communication and repetitive symptoms and stereotypies. Although not cardinal symptoms per se, motor impairments are fundamental aspects of ASD. These impairments are associated with postural and motor control disabilities that we investigated using computational modeling and developmental robotics through human-machine interaction paradigms. Method: First, in a set of studies involving a human-robot posture imitation, we explored the impact of 3 different groups of partners (including a group of children with ASD) on robot learning by imitation. Second, using an ecological task, i.e. a real-time motor imitation with a tightrope walker (TW) avatar, we investigated interpersonal synchronization, motor coordination and motor control during the task in children with ASD (n= 29), TD children (n=39) and children with developmental coordination disorder (n= 17, DCD). Results: From the human robot experiments, we evidenced that motor signature at both groups' and individuals' levels had a key influence on imitation learning, posture recognition and identity recognition. From the more dynamic motor imitation paradigm with a TW avatar, we found that interpersonal synchronization, motor coordination and motor control were more impaired in children with ASD compared to both TD children and children with DCD. Taken together these results confirm the motor peculiarities of children with ASD despite imitation tasks were adequately performed. Discussion: Studies from human-machine interaction support the idea of a behavioral signature in children with ASD. However, several issues need to be addressed. Is this behavioral signature motoric in essence? Is it possible to ascertain that these peculiarities occur during all motor tasks (e.g. posture, voluntary movement)? Could this motor signature be considered as specific to autism, notably in comparison to DCD that also display poor motor coordination skills? We suggest that more work comparing the two conditions should be implemented, including analysis of kinematics and movement smoothness with sufficient measurement quality to allow spectral analysis.
Pervasive Developmental Disorder (PDD) is characterized by a triad of severe deficits and pervasi... more Pervasive Developmental Disorder (PDD) is characterized by a triad of severe deficits and pervasive impairments in developmental areas such as reciprocal interactions, communication skills and stereotyped behavior. PDD is mostly seen as a ''spectrum disorder'' with several variants and gradients. DSM IV (APA, 2000) distinguishes three main disorders: Autistic
2017 26th IEEE International Symposium on Robot and Human Interactive Communication (RO-MAN), 2017
Interactive Machine Learning considers that a robot is learning with and/or from a human. In this... more Interactive Machine Learning considers that a robot is learning with and/or from a human. In this paper, we investigate the impact of human social traits on the robot learning. We explore social traits such as age (children vs. adult) and pathology (typical developing children vs. children with autistic spectrum disorders). In particular, we consider learning to recognize both postures and identity of a human partner. A human-robot posture imitation learning, based on a neural network architecture, is used to develop a multi-task learning framework. This architecture exploits three learning levels : 1) visual feature representation, 2) posture classification and 3) human partner identification. During the experiment the robot interacts with children with autism spectrum disorders (ASD), typical developing children (TD) and healthy adults. Previous works assessed the impact on learning of these social traits at the group level. In this paper, we focus on the analysis of individuals separately. The results show that the robot is impacted by the social traits of these different groups' individuals. First, the architecture needs to learn more visual features when interacting with a child with ASD (compared to a TD child) or with a TD child (compared to an adult). However, this surplus in the number of neurons helped the robot to improve the TD children's posture recognition but not that of children with ASD. Second, preliminary results show that this need of a neurons surplus while interacting with children with ASD is also generalizable to the identity recognition task.
NR4A2, a member of the nuclear receptor superfamily, is involved in modulation of target gene tra... more NR4A2, a member of the nuclear receptor superfamily, is involved in modulation of target gene transcription, regulating several developmental processes such as regulation of cellular homeostasis, neuronal development, inflammation and carcinogenesis. 2q24.1 deletions are extremely rare, and only 1 patient with a de novo deletion encompassing only NR4A2 gene was reported so far. We report 3 additional patients with a de novo deletion encompassing NR4A2: 2 patients have deletions encompassing only NR4A2 gene and 1 patient has a deletion including NR4A2 and the first exon of GPD2. Our patients presented a neurodevelopmental disorder including language impairment, developmental delay, intellectual disability and/or autism spectrum disorder. We suggest that NR4A2 haploinsufficiency is implicated in neurodevelopmental disorder with high penetrance.
Although whole-exome sequencing (WES) is the gold standard for the diagnosis of neurodevelopmenta... more Although whole-exome sequencing (WES) is the gold standard for the diagnosis of neurodevelopmental disorders (NDDs), it remains expensive for some genetic centers. Commercialized panels comprising all OMIM-referenced genes called "medical exome" (ME) constitute an alternative strategy to WES, but its efficiency is poorly known. In this study, we report the experience of 2 clinical genetic centers using ME for diagnosis of NDDs. We recruited 216 consecutive index patients with NDDs in 2 French genetic centers, corresponded to the daily practice of the units and included non-syndromic intellectual disability (NSID, n = 33), syndromic ID (NSID = 122), pediatric neurodegenerative disorders (n = 7) and autism spectrum disorder (ASD, n = 54). We sequenced samples from probands and their parents (when available) with the Illumina TruSight One sequencing kit. We found pathogenic or likely pathogenic variants in 56 index patients, for a global diagnostic yield of 25.9%. The diagnos...
Uploads
Papers by Jean Xavier