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Resume Le diabete neonatal (DNN) est une maladie genetique rare (1 naissance vivante sur 90 000 a 260 000). Il se defi nit par l’existence d’hyperglycemies graves liees a l’insuffi sance ou a l’absence d’insuline circulante et survenant avant l’âge de 1 an. Ces hyperglycemies necessitent un traitement soit de facon transitoire dans environ la moitie des cas, soit de facon permanente. Deux grands groupes de mecanisme expliquent la maladie : malformation du pancreas ou anomalie de fonction de la cellule β pancreatique. Les causes genetiques les plus frequentes de diabete neonatal avec anomalie de fonction de la cellule β sont les anomalies du locus 6q24 et les mutations des genes ABCC8 , KCNJ11 . D’autres genes sont associes a une malformation du pancreas ou a une destruction des cellules β. Sur le plan clinique, compares aux patients avec une mutation dans ABCC8 ou KCNJ11 , les patients avec anomalie du 6q24 ont un poids et une taille de naissance plus faibles, un âge au moment du diagnostic et de remission plus precoce, et une frequence plus importante de malformations. Les patients avec une mutation dans ABCC8 ou KCNJ11 testes ont des troubles neurologiques et neuropsychologiques. Jusqu’a 86 % des patients ayant une remission recidivent leur diabete a l’âge pubertaire, sans qu’il existe une difference selon l’origine genetique. Tous ces resultats plaident pour l’importance d’un suivi au long cours par une equipe multidisciplinaire pediatrique puis de medecins d’adultes.

Introduction Les processus graphomoteurs sous-jacents a l’acte graphique peuvent etre refletes par l’analyse cinetique de traces prescripturaux. L’objectif de cette etude est de fournir des donnees permettant de rendre compte de la maturation du geste graphomoteur via l’analyse de l’evolution de la cinetique du trace. Materiel et methodes Trois cent trente enfants droitiers (6–11 ans), sans trouble d’apprentissage repere, scolarises du CP au CM2, ont ete inclus dans l’etude et ont passe un examen graphomoteur (copie de boucles cycloides et epicycloides avec la main dominante). Des donnees cinetiques ont ete relevees avec un stylo numerique. Resultats Nos resultats mettent en evidence une evolution maturative de la cinetique du trace dependante simultanement des niveaux d’âge et de classe scolaire. Les aspects spatio-temporels des traces (vitesse ; temps de pauses levees et appuyees ; nombre de pics d’acceleration ; longueur, largeur, hauteur et inclinaison ; espacement entre les boucles) apparaissent significativement correles (p Discussion/Conclusion Le developpement de la graphomotricite chez l’enfant depend simultanement du niveau d’âge en lien avec la maturation, et du niveau de classe scolaire en lien avec l’apprentissage. Les traces des boucles epicycloides apparaissent plus constants (moins de pics d’acceleration) mais plus controles (vitesse et temps de pauses plus eleves) que les traces de boucles cycloides.

Postpartum blues may promote a certain openness to emotional exchange between mother and her infant. Groups of mothers were assembled according to various types of emotional expression demonstrated during early postpartum. Links between mothers’ groups and newborns’ neuropsychomotor characteristics were assessed. Twenty-one mother–infant dyads were included at maternity wards. A semistructured interview was established to identify symptoms of the blues and classify mothers into clinical groups: ordinary and emotionally mixed postpartum blues (OB); sad, intense, and lasting blues; or without blues. Newborns were examined using the Neonatal Behavioral Assessment Scale (T.B. Brazelton & J.K. Nugent, 1995). Cluster analysis revealed a two-class structure, where 78% of women with OB were found to belong to the same class, with a higher median score on newborn “hand-to-mouth activity” which correlated to self-quieting activity, heightened regulation of awake states, decreased need for adult support, better defensive movements, greater attentiveness, and diminished irritability. The acquired faculties demonstrated by newborns whose mothers experience OB reflect a distinct skillset of neuropsychomotor maturity. Trasfondo: la melancolia posterior al parto pudiera promover una cierta disposicion al intercambio emocional entre la madre y su infante. Metodos: se organizaron grupos de madres de acuerdo con los varios tipos de expresion emocional demostrada durante el primer periodo posterior al parto. Se evaluaron los enlaces entre los grupos de madres y las caracteristicas neuro-sicomotoras de los recien nacidos. 21 diadas de madres e infantes fueron incluidas en los pabellones de maternidad. Una entrevista semi-estructurada fue establecida para identificar los sintomas de melancolia y clasificar las madres en grupos clinicos: melancolia posterior al parto comun y con mezclas emocionales (OB); melancolia triste, intensa y duradera; o sin melancolia. Se examino a los recien nacidos usando NBAS. Resultados: los analisis de grupos revelaron una estructura de dos clases, donde se detecto que el 78% de las mujeres con OB pertenecian a la misma clase, con un puntaje medio mas alto en la “actividad mano-a-boca” lo cual se correlaciono con la actividad de auto-calmarse, la elevada regulacion de estados de desvelo, la disminucion en la necesidad de apoyo adulto, mejores movimientos defensivos, mayor sentido de prestar atencion y una disminuida irritabilidad. Conclusiones: las facultades adquiridas que los recien nacidos cuyas madres experimentaban OB demostraron reflejan un grupo de habilidades bien determinadas de madurez neuro-sicomotora. Arriere-plan: Le blues postpartum blues peut s’averer promouvoir une certaine ouverture a l’echange emotionnel entre la mere et son bebe. Methodes: Des groupes de meres ont ete regroupees en plusieurs types d’expression emotionnelle manifestee durant le postpartum precoce. Les liens entre les caracteristiques psychomotrices des nouveaux-nes et le groupe des meres a ete evalue. 21 dyades mere-bebe ont ete rassemblees dans des maternites. Un entretien semi-structure a ete etabli afin d’identifier les symptomes de blues et de classifier les meres en groupes cliniques: blues postpartum ordinaire et melange emotionnellement (abrege OB a partir de l’anglais); blues triste, intense et qui dure; ou sans blues. Les nouveaux-nes ont ete examines en utilisant le NBAS. Resultats: des analyses de groupe ont revele une structure a deux classes, dans laquelle 78% des femmes avec l’OB s’averaient apartenir a la meme classe, avec un score moyen plus eleve a l’”activite main a bouche” qui correlait une activite d’autosilence, une regulation plus elevee des etats d’eveil, un besoin decru de soutien adulte, de meilleurs mouvements defensifs, une attention plus forte et une irritablite diminuee. Conclusions: Les facultes acquises demontrees par les nouveaux-nes dont les meres font l’experience de l’OB refletent des competences de maturite neuropsychomotrices. Hintergrund: „Baby-Blues“ nach der Geburt kann eine gewisse Offenheit zum emotionalen Austausch zwischen der Mutter und ihrem Kind fordern. Methoden : Mutter wurden nach verschiedenen Typen des emotionalen Ausdrucks, welchen sie kurz nach der Geburt zeigten, unterschiedlichen Gruppen zugewiesen. Verbindungen zwischen der mutterlichen Gruppenzugehorigkeit und den neuropsychomotorischen Eigenschaften der Neugeborenen wurden beurteilt. 21 Mutter-Kind-Dyaden auf den Entbindungsstationen wurden eingeschlossen. Ein semi-strukturiertes Interview wurde entwickelt, um die Symptome des „Blues“ zu identifizieren und die Mutter in klinische Gruppen zu klassifizieren: gewohnlicher und emotional gemischter „Blues“ (OB); trauriger, intensiver und anhaltender „Blues“; oder ohne „Blues“. Neugeborene wurden mit Hilfe der NBAS untersucht. Ergebnisse: Eine Cluster-Analyse ergab eine Zwei-Klassen-Struktur, bei der 78% der Frauen mit OB aufgrund eines hoheren Medianwerts in der „Hand-zu-Mund-Aktivitat” derselben Klasse angehorten. Die „Hand-zu-Mund-Aktivitat“ korrelierte mit selbstberuhigender Aktivitat, erhohter Regulierung des Wachzustandes, verringerter Notwendigkeit von Unterstutzung durch einen Erwachsenen, besseren defensiven Bewegungen, mehr Aufmerksamkeit und verminderter Reizbarkeit. Schlussfolgerungen: Die erworbenen Fahigkeiten von Neugeborenen, deren Mutter OB erleben, spiegeln Merkmale einer deutlichen neuropsychomotorischen Reife wider. 抄録：背景：産褥ブルーは、母親と乳児の間の情緒交換にある種の開放性opennessをもたらすかもしれない。 方法：産褥期早期に示されたさまざまなタイプの情緒表現によって、母親達はグループにされた。母親のグループと新生児の神経精神運動的特徴との間のつながりが評価された。 21組の母子が産科病棟で集められた。ブルーの症状を同定して、母親を臨床的なグループ、すなわち普通の情緒的に混合した産褥ブルー(OB)；悲しく、激しく持続するブルー；あるいはブルーなし、に分類するために、半構造化面接が定められた。新生児はNBASを用いて診察された。 結果：クラスター分析によって、2階層構造が明らかになり、OBの女性の78%が同じ階層に属することがわかった。その階層では「手と口活動hand-to-mouth activity」の中央値が高く、それは自己鎮静活動、覚醒状態の高い調節、大人の支援へのニードの減少、より良い防御運動、より大きな注意力、および減少した易刺激性と相関した。 結論：OBを経験した母親の新生児によって示された獲得された能力は、神経精神運動の成熟のはっきりしたスキルセットを反映する。

We aimed to understand the mechanisms and sources of learning difficulties in children with CHARGE syndrome who attend school and to determine any specific developmental characteristics.We analyzed the psychomotor and cognitive functions of eight children from 7 to 13 years old with classical CHARGE syndrome by using the Wechsler Intelligence Scale for Children (WISC), the Neuropsychomotor test (NP-MOT), and several subtests of the Developmental neuropsychological assessment (NEPSY) and Kaufman Assessment Battery for Children (K-ABC) instruments.The IQ range was from 54 to 92. The main weaknesses related to three domains: static and dynamic postural control, visuospatio-constructive abilities, and both sequential processing and selective attention. The main strengths were in holistic perception, semantic competencies, logical reasoning and planning skills, with axial and peripheral hypotonia. The extent of psychomotor and cognitive deficits was not associated with severity of sensorial deficiencies. We discuss the multiple causal mechanisms of psychomotor and cognitive difficulties.We found a persistent and homogeneous psychomotor profile and specific cognitive difficulties in 8 children with CHARGE syndrome despite their large range of IQs. Highlighting these specific impairments is important to understand the nature and mechanisms of CHARGE for adapting educational and rehabilitation methods. These problems may be explained by sensory deficits, as well as dysfunction in integrating and/or regulatory regions of the brain.

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IntroductionAn overlap between autism spectrum disorder (ASD), in particular Asperger Syndrome (AS), and high intellectual potential (HIP–Total IQ > 2 SD) is often discussed.ObjectivesExplore differences between homogeneous and heterogeneous Wisc-profiles among HIP children, and between HIP and ASD children, on cognitive and clinical assessments.MethodsForty-nine participants (mean age 11.2 years) were divided in 4 groups: High Functioning Autism (HFA), AS, Homogenous HIP and Heterogeneous HIP. Data of WISC-IV and questionnaires – Autism Quotient (AQ), Empathy Quotient (EQ), Systemizing Quotient (SQ), Children's Communication Checklist (CCC) – were compared.(Preliminary) ResultsOn the WISC-IV, the Z scores curves follow similar trajectories but highlight quantitative differences between AS and heterogeneous HIP: verbal comprehension is the highest index (+1,6 SD in AS; +3,1 SD in heterogeneous HIP) followed by perceptual reasoning, working memory, and processing speed indexes (–1,2 SD in AS; +0,5 SD in heterogeneous HIP), respectively. The questionnaires show that scores of Homogenous HIP children are all in the average. Heterogeneous HIP children score 2,1 SD above average on the AQ (+1,6 SD on “Social Skills” and +1,3 SD on “Local Detail” subscales), whereas ASD children score 4 SD above average on the AQ. In addition, heterogeneous HIP children show pragmatic difficulties (–2,4 SD on the CCC, with a peak on “Area of Interest” subscale), also present in ASD children (–4 SD).ConclusionsAS and heterogeneous HIP children show similar cognitive profiles on the WISC-IV. Furthermore, heterogeneous HIP children exhibit high scores on the AQ and have pragmatic difficulties.Disclosure of interestThe authors have not supplied their declaration of competing interest.

Resume Les troubles specifiques du langage (TSLO) sont frequemment associes a des anomalies paroxystiques infracliniques observees sur l’electroencephalogramme. L’objectif de ce travail d’analyse retrospective des dossiers de 35 enfants atteints d’un trouble specifique du langage est de determiner quelle proportion presente des anomalies paroxystiques electroencephalographiques (EEG), de les decrire et d’etudier leur association a certaines caracteristiques anamnestiques, cliniques, paracliniques et evolutives. Dans cette population d’enfants âges de quatre a sept ans, comportant 49 % de patients atteints de TSLO de type expressif et 51 % de type receptif, 49 % des enfants presentent des anomalies EEG. Tres frequentes, elles sont essentiellement localisees a gauche et dans deux regions : temporo-occipitale (60 %) et frontorolandique (30 %). On observe une atteinte de la dimension phonologique du langage significativement plus importante, un nombre significativement plus important de retards d’acquisition de la marche et de la proprete et une frequence accrue (quoique non significative statistiquement) d’anomalies psychomotrices. La frequence de telles anomalies suggere qu’elles puissent refleter des particularites physiopathologiques associees aux TSLO. On peut ainsi envisager pour les TSLO un modele theorique neurodeveloppemental, comme pour les troubles envahissants du developpement et la schizophrenie.

Resume L’objectif de cette etude etait d’identifier les signes cliniques et les symptomes qui sont les marqueurs specifiques des sous-types du trouble de l’acquisition de la coordination (TAC) ou de la dyspraxie developpementale. Population et methode Il s’agit d’une etude prospective, descriptive et analytique conduite sur 43 enfants d’âge scolaire porteurs d’un TAC, selectionnes selon les criteres du DSM-IV-R, sans aucune affection medicale et âges de cinq a 15 ans. Des tests standardises psychologiques, neuropsychologiques, neuropsychomoteurs et un examen neurovisuel ont ete administres. Resultats L’âge moyen des enfants inclus etait de 8,31 ± 2,39 ans. Nous avons distingue des criteres diagnostiques significatifs concernant deux dyspraxies developpementales pures : la dyspraxie ideomotrice (IM) et la dyspraxie visuo-spatiale et/ou visuo-constructive (VSC), et un groupe dyspraxie mixte (MX), associant les deux precedents groupes mais incluant les troubles specifiques de la coordination motrice, avec plus de co-morbidite de signes discrets et de deficits cognitifs. Le groupe IM est deficitaire ( p p Conclusion Cette etude est la premiere a explorer la semiologie complete du TAC chez l’enfant, avec des investigations neuromotrices, neuropsychomotrices, psychologiques et neurocognitives aprofondies, nous permettant de realiser un diagnostic differentiel, de souligner les criteres cliniques predicteurs des sous-types de TAC et de discuter des hypotheses etiologiques.

Introduction L’analyse de la cinetique du trace permet de rendre compte des processus graphomoteurs sous-jacents a l’acte graphique chez l’enfant. L’objectif de cette etude est de fournir des donnees preliminaires permettant de rendre compte d’une evolution de la cinetique du trace comme reflet de la maturation du geste graphomoteur. Materiel et methodes Deux cent vingt-neuf enfants droitiers (6–11 ans), sans trouble d’apprentissage repere, scolarises du CP au CM2, ont ete inclus dans l’etude et ont passe un examen graphomoteur (copie de boucles cycloides avec la main dominante). Des donnees cinetiques ont ete relevees avec un stylo numerique. Resultats Nos resultats mettent en evidence une evolution statistiquement significative (p

An evaluation of eye movements is very useful in neurological disorders but is complicated by issues such as maturation and lack of normative data in children. In order to address these issues we studied smooth pursuit eye movements of 65 normal children aged 7-11 years old. The gain of horizontal smooth pursuit (HSP) was higher than the gain of the vertical smooth pursuit (SP) and this difference had a statistical tendency to disappear with aging from 7 to 11 years. These data suggest that, in the cerebral regions involved in the control of SP, i.e. posterior parietal and superior temporal lobe regions, the networks for VSP mature latter than those for HSP.

Background Preterm newborns admitted to the Neonatal Intensive Care Unit are deprived of sensory stimulation. Tactile/kinaesthetic stimulation results in weight gain. Studies involving the cutaneous application of vegetable oils have shown improvement in somatic growth and on skin barrier function. Objective To assess the neurodevelopmental and biological benefits of the simultaneous use of multimodal stimulation (SMS) and the cutaneous application of vegetable oils. Setting Tertiary referral centre serving the Poitou-Charentes region of France. Methods Randomized controlled trial of 49 low-risk preterm infants, born at 31- to 34-week gestation. Each infant was randomly assigned to one of three treatment groups, Sensori-Tonico-Motor (STM) touch for 10 days with either: sweet almond oil, ISIO4 blended oil, or placebo – normal saline, or to a control group who did not receive any intervention. The primary outcome was weight gain. Secondary outcomes were linear growth, neurological maturation, psychomotor development and number of days of admission. Analysis was by intention-to-treat. Results The group who received STM with ISIO4 oil demonstrated enhanced weight gain (+57%, 95% CI 37–76) compared with controls (P = 0.030). All STM groups showed shorter admission times (mean reduction 15 days, 95% CI 23–50 days hospitalised, P = 0.005), and an increase in body length (P = 0.030). Both groups of oil massaged babies (almond and ISIO4) showed an increased neurological score (P = 0.001) compared to controls. The infants receiving ISIO4 oil had an associated increase in psychomotor scores (P = 0.028), time spent in quiet wakefulness (P = 0.036), improved orientation (P = 0.036), and enhanced development of the oculomotor (P = 0.012) and sensorimotor (P = 0.003) systems. An additional benefit seen was improved moisturization (P = 0.001), and quicker recovery of dermatological conditions. No adverse dermatological events were observed. Conclusions The combination of STM and cutaneous application of oils to healthy preterm babies resulted in enhanced weight gain and neurological development, and a shorter stay in hospital.

OBJECTIVE. 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 of failure in recognizing the clinical phenotype and detecting the 22qter deletion by routine chromosome analyses. Our goal is to contribute to the description of the neurobehavioral phenotype and brain abnormalities of this microdeletional syndrome. METHODS. We assessed neuromotor, sensory, language, communication, and social development and performed cerebral MRI and study of regional cerebral blood flow measured by positron emission tomography in 8 children carrying the 22q13.3 deletion. RESULTS. Despite variability in expression and severity, the children shared a common developmental profile characterized by hypotonia, sleep disorders, and poor response to their environment in early infancy; expressive language deficit contrasting with emergence of social reciprocity from ages ∼3 to 5 years; sensory processing dysfunction; and neuromotor disorders. Brain MRI findings were normal or showed a thin or morphologically atypical corpus callosum. Positron emission tomography study detected a localized dysfunction of the left temporal polar lobe and amygdala hypoperfusion. CONCLUSIONS. The developmental course of the 22q13.3 deletion syndrome belongs to pervasive developmental disorders but is distinct from autism. An improved description of the natural history of this syndrome should help in recognizing this largely underdiagnosed condition.

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 expressive (ELD) or MLD have few differences from controls in either face or emotional recognition. At contrary, we found that children with MLD, but not those with ELD, take identical faces to be different if their expressions change. Since children with mixed language disorders are socially more impaired than children with ELD, we think that these features may partly underpin the social difficulties of these children.

OBJECTIVE Neonatal diabetes secondary to mutations in potassium-channel subunits is a rare disease but constitutes a paradigm for personalized genetics-based medicine, as replacing the historical treatment with insulin injections with oral sulfonylurea (SU) therapy has been proven beneficial. SU receptors are widely expressed in the brain, and we therefore evaluated potential effects of SU on neurodevelopmental parameters, which are known to be unresponsive to insulin. RESEARCH DESIGN AND METHODS We conducted a prospective single-center study. Nineteen patients (15 boys aged 0.1–18.5 years) were switched from insulin to SU therapy. MRI was performed at baseline. Before and 6 or 12 months after the switch, patients underwent quantitative neurological and developmental assessments and electrophysiological nerve and muscle testing. RESULTS At baseline, hypotonia, deficiencies in gesture conception or realization, and attention disorders were common. SU improved HbA1c levels (median change −1.55% [range −3.8 to 0.1]; P < 0.0001), intelligence scores, hypotonia (in 12 of 15 patients), visual attention deficits (in 10 of 13 patients), gross and fine motor skills (in all patients younger than 4 years old), and gesture conception and realization (in 5 of 8 older patients). Electrophysiological muscle and nerve tests were normal. Cerebral MRI at baseline showed lesions in 12 patients, suggesting that the impairments were central in origin. CONCLUSIONS SU therapy in neonatal diabetes secondary to mutations in potassium-channel subunits produces measurable improvements in neuropsychomotor impairments, which are greater in younger patients. An early genetic diagnosis should always be made, allowing for a rapid switch to SU.

Le diabete « neonatal » est une maladie genetique rare (1 naissance vivante sur 90 000 a 260 000). Il se definit par l’existence d’hyperglycemies liees a l’insuffisance ou a l’absence d’insuline circulante et survenant avant l’âge de un an. Ces hyperglycemies necessitent un traitement soit de facon transitoire dans environ la moitie des cas, soit de facon permanente. Deux grands groupes de mecanisme expliquent la maladie : anomalie de developpement du pancreas ou anomalie de fonction de la cellule β pancreatique. Les causes genetiques les plus frequentes de diabete neonatal avec anomalie de fonction de la cellule β sont les anomalies du locus 6q24 et les mutations des genes ABCC8, KCNJ11, codant pour les sous-unites du canal potassique de la cellule beta impliques dans le lien entre metabolisme de celle-ci et secretion d’insuline. D’autres genes sont associes a une malformation du pancreas ou a une destruction des cellules β. Compares aux patients avec une mutation dans ABCC8 ou KCNJ11, les patients avec anomalie de 6q24 ont un poids et une taille de naissance plus faibles, un âge au diagnostic et de remission plus precoces et une frequence plus importante de malformations. Les patients avec une mutation dans ABCC8 ou KCNJ11 ont des troubles neurologiques et neuropsychologiques chez tous ceux testes finement. Jusqu’a 86 % des patients ayant une remission recidivent leur diabete a l’âge pubertaire, sans qu’il existe une difference selon la cause genetique. Ces resultats plaident pour l’importance d’un suivi au long cours par une equipe multidisciplinaire pediatrique puis de medecins d’adultes.

A French retrospective transversal investigation on the choice of sleeping and waking positions and their effects on infant motor development was conducted using a questionnaire addressed to parents of 148 12- to-18-month-old children concerning the lying position during sleep or awake states. During sleep, 49% of our samples were placed on their backs during the first 4 months of life, and while awake, 9% of the infants were placed in prone. We found a significant relationship between sleep position and some motor milestones. Infants sleeping only on back attained all skills later and without passing rolling, creeping, and crawling compared to infants sleeping on side or back-and-side. The awake position use of a mixed supine and sitting position gave these infants an earlier start in regards to the acquisition of some psychomotor skills. Our findings support the use of a variety of lying positions, that is, a mixed back-and-side position in the first quarter of life. However, awake position and motor education can contribute to the emergence of a sequential motor development, which specifies quality of coordination.

Resume Il existe une plasticite fonctionnelle individuelle, garante d'une capacite d'adaptation et de regulation, rendant unique chaque individu. Nous emettons l'hypothese que chez l'enfant a « hautes potentialites » (surdoue), il existe une organisation neurofonctionnelle particuliere de ses reseaux neuronaux avec des proprietes membranaires specifiques pouvant influer sur la vitesse de conduction, donc sur le mode de traitement de l'information. Il en decoule des proprietes temporelles des neurones specifiques ayant des proprietes specifiques d'apprentissage. A partir d'une cohorte en suivi longitudinal prophylactique, et dans une demarche retrospective, nous faisons etat d'un echantillon de donnees developpementales perinatales et de la petite enfance (fonctions : neurosensorialite, motricite, langage, cognition, lateralite, affectivite) dont nous disposons pour des enfants reconnus ulterieurement a « hautes potentialites » (quotient intellectuel superieur a 130, sans difference significative entre l'echelle verbale et de performance), testes a l'âge scolaire entre quatre et sept ans par un test psychometrique de Weschler (WPPSI ou WISC III). Les processus de maturation de ces differentes fonctions apparaissent precoces, rapides et relativement harmonises. L'apport de ces donnees conduit a la necessite d'analyser finement les profils cognitifs heterogenes des les plus jeunes âges et a s'interroger sur l'importance de preserver une continuite developpementale des differentes fonctions, qui peuvent etre tres vulnerables avec le risque de se dissocier ulterieurement, du fait meme d'une plasticite specifique et des conditions d'environnements favorables ou defavorables (famille, pairs, ecole).

IntroductionAlthough more than 85% of children with DCD are affected by handwriting disorders, their characteristics and underlying mechanisms remain poorly known.ObjectivesWe aim to better identify the nature of handwriting disorders in subtyping DCD children.MethodsSchool children aged between 5 to 15 years and exhibited a DCD (according to DSM-5) are eligible for inclusion. They were classified in three subtypes of DCD: ideomotor (IM), visual-spatial and/or constructional (VSC), and mixed (MX). They were assessed with a standardized handwriting evaluation including quality and speed and a clinical observation of motor gestual developmental and temporal-spatial organization of handwriting highlighting six qualitative criteria: irregular handwriting (criterion 1), immaturity of handwriting gesture (criterion 2), excessive pressure of the pen on the paper (criterion 3), neuro-vegetative responses (criterion 4), trembling (criterion 5), slow handwriting velocity (criterion 6). Two groups are established: children with poor handwriting (PH) and children with dysgraphia (DysG).ResultsWhile 89% of children have handwriting disorders, only 20% exhibit dysgraphia. IM DCD is characterized by an immaturity of handwriting gesture and is associated with PH. Dysgraphia appears only in VSC and MX DCD which are characterized by the association of criteria 1, 2, 3, and 4. This association appears to more than 80% in DysG. Slow handwriting velocity is constant between PH and DysG.ConclusionImmaturity of handwriting gesture is a possible underlying mechanism of poor handwriting. Dysgraphia is associated with specific impairments in spatial organization of letters and in motor control of handwriting gesture.Disclosure of interestThe authors have not supplied their declaration of competing interest.

Neonatal diabetes mellitus is a rare genetic form of pancreatic β-cell dysfunction. We compared phenotypic features and clinical outcomes according to genetic subtypes in a cohort of patients diagnosed with neonatal diabetes mellitus before age 1 year, without β-cell autoimmunity and with normal pancreas morphology.We prospectively investigated patients from 20 countries referred to the French Neonatal Diabetes Mellitus Study Group from 1995 to 2010. Patients with hyperglycaemia requiring treatment with insulin before age 1 year were eligible, provided that they had normal pancreatic morphology as assessed by ultrasonography and negative tests for β-cell autoimmunity. We assessed changes in the 6q24 locus, KATP-channel subunit genes (ABCC8 and KCNJ11), and preproinsulin gene (INS) and investigated associations between genotype and phenotype, with special attention to extra-pancreatic abnormalities.We tested 174 index patients, of whom 47 (27%) had no detectable genetic defect. Of the remaining 127 index patients, 40 (31%) had 6q24 abnormalities, 43 (34%) had mutations in KCNJ11, 31 (24%) had mutations in ABCC8, and 13 (10%) had mutations in INS. We reported developmental delay with or without epilepsy in 13 index patients (18% of participants with mutations in genes encoding KATP channel subunits). In-depth neuropsychomotor investigations were done at median age 7 years (IQR 1-15) in 27 index patients with mutations in KATP channel subunit genes who did not have developmental delay or epilepsy. Developmental coordination disorder (particularly visual-spatial dyspraxia) or attention deficits were recorded in all index patients who had this testing. Compared with index patients who had mutations in KATP channel subunit genes, those with 6q24 abnormalities had specific features: developmental defects involving the heart, kidneys, or urinary tract (8/36 [22%] vs 2/71 [3%]; p=0·002), intrauterine growth restriction (34/37 [92%] vs 34/70 [48%]; p0·0001), and early diagnosis (median age 5·0 days, IQR 1·0-14·5 vs 45·5 days, IQR 27·2-95·0; p0·0001). Remission of neonatal diabetes mellitus occurred in 89 (51%) index patients at a median age of 17 weeks (IQR 9·5-39·0; median follow-up 4·7 years, IQR 1·5-12·8). Recurrence was common, with no difference between the groups who had 6q24 abnormalities versus mutations in KATP channel subunit genes (82% vs 86%; p=0·36).Neonatal diabetes mellitus is often associated with neuropsychological dysfunction and developmental defects that are specific to the underlying genetic abnormality. A multidisciplinary assessment is therefore essential when patients are diagnosed. Features of neuropsychological dysfunction and developmental defects should be tested for in adults with a history of neonatal diabetes mellitus.Agence Nationale de la Recherche-Maladies Rares Research Program Grant, the Transnational European Research Grant on Rare Diseases, the Société Francophone du Diabète-Association Française du Diabète, the Association Française du Diabète, Aide aux Jeunes Diabétiques, a CIFRE grant from the French Government, HRA-Pharma, the French Ministry of Education and Research, and the Société Française de Pédiatrie.

Background Parents with past and current eating disorders (ED) have been shown to report troubles nourishing their infants. This could increase the risk of infant feeding problems linked to maternal anxiety and depression. It is not clear how mothers’ eating difficulties before pregnancy and at the time of birth can affect infant’s feeding. We aimed to specify the impact of eating disorders on mothers’ adaptation and sensitivity to their offspring during feeding, by comparing a population of mothers with eating disorders and controls. Methods Twenty-eight women agreed to participate in interviews and filmed mother-baby interactions. Pregnant women consulting at an obstetric unit for care follow-up were screened and tested for symptoms of eating disorders with the EDE-Q Questionnaire (Eating Disorders Examination Questionnaire) and the EDE Interview (Eating Disorders Examination Interview). Infant functional troubles and mothers’ sensitivity were investigated through the Symptom Check List. Reciprocal adaptation during feeding with their new-borns was filmed and analysed with the Chatoor Infant Feeding Scale. Before pregnancy, two women suffered from anorexia, three suffered from bulimia, three had binge eating symptoms and two were diagnosed with EDNOS (Eating Disorders Not Otherwise Specified). Results Mothers suffering from ED tended to show more difficult interactive patterns in terms of dyadic reciprocity when feeding their babies compared with mothers with no symptoms of eating disorders. In the interviews, other than the behavioural data gathered, ED mothers expressed feeling more dissatisfaction and uneasiness during feeding. Conclusions Pregnancy seems to be an useful period for interviewing women on eating disorders, allowing for the design and implementation of prevention programmes based on mothers’ narratives and infant/mother observations and treatment.

Aim Our aim was to study horizontal and vertical smooth pursuit eye movements in children with developmental coordination disorder (DCD). Method Horizontal and vertical smooth pursuit eye movements of 91 children were studied using electro-oculography: 27 children with DCD (23 males, four females), according to the DSM-IV-TR criteria, and 64 comparison children (26 males, 38 females). All children were 7 to 12 years old (mean 9y, SD 1.5y). Among the group of children with DCD, eight had received intervention. Intervention exercised static and dynamic fixation, saccades, visual strategies, visuospatial abilities, and eye–hand coordination. A smooth pursuit gain index was calculated and statistical comparisons were made between the two groups of children. Results Horizontal pursuit gain was similar in both populations, but vertical pursuit gain was significantly impaired (p

Introduction Le Trouble de l’acquisition de la coordination (TAC) constitue un groupe heterogene d’enfants porteurs de troubles moteurs. La nature de ces troubles est mal definie en raison de l’utilisation d’outils d’evaluation de performances motrices globales. Il apparait ainsi dans la litterature un seul groupe commun a toutes les etudes qui ont tente une classification de sous-types, avec des deficits a toutes les epreuves. L’objectif de cette etude est de definir les variables cliniques les plus discriminantes de ce groupe global ou mixte et de mettre en evidence les comorbidites specifiques. Materiel et methodes Cinquant-huit enfants (6–13 ans) presentant les criteres du TAC selon le DSM-5 et appartenant a un sous-type TAC soit visuo-spatial/constructif, soit mixte ont ete inclus et examines de facon complete (neuropsychologique, neuro-psychomoteur avec une batterie developpementale standardisee [NP-MOT], neurovisuel et avec une IRM systematique). Resultats Un deficit a l’imitation de gestes, perception digitale, praxies, dexterite manuelle, coordination des membres superieurs et inferieurs, caracterise le groupe Mixte. Trente-trois pour cent de stretchs reflexes phasiques (SRP) sont observes a la dorsi-flexion du pied (tonus/NP-MOT) mais non associes a ces deficits ou a un sous-type de TAC mais avec un dysfonctionnement neurologique mineur au niveau du tonus postural ( p = 0,004) et une dysdiadococinesie ( p = 0,011). La presence d’un SRP augmente les troubles de la coordination globale et de la dexterite manuelle. Discussion–conclusion Ces donnees suggerent qu’il existe une forme discrete de spasticite distale affectant la commande motrice, rarement examinee avec le TAC, constituant une comorbidite sans la mise en evidence d’une anomalie cerebrale a l’IRM.

Anhidrotic/hypohidrotic ectodermal dysplasia (HED) is the most common of the ectodermal dysplasias characterized by a triad of absent or reduced sweat, hypodontia and misshapen teeth, and missing or sparse hair. As the central nervous system is primarily ectodermal in origin, it has long been a concern that HED may be associated with developmental delay and/or intellectual disabilities. While published reviews report abnormalities in mental or motor development in 15-25% of HED-affected patients, there is no report in the literature including a systematic assessment of intellectual abilities in a cohort of patients with this rare disorder. During yearly health care updates, many of our clinic families report attention difficulties in young HED patients without evidence of a significant impact on school performance. In an exploratory study to identify and quantify intellectual abnormalities that may be associated with HED, we performed a psychological examination of 23 HED patients by means of the Wechsler Intelligence Scales, WPPSI-III, and WISC-IV. The interpretation of the tests shows no significant impairment in the achievements of the sample group compared with normative values (full scale scores, and index scale scores of the WISC-IV). At an individual level, the HED-affected patients were characterised by higher scores on the Verbal Comprehension Index, on Perceptual Reasoning and Working Memory Indices, and lower scores on the Processing Speed Index. As all of the Indices were within normal limits for the study population, in the absence of major mental/motor disabilities these findings support the mainstream education of HED-affected children.

The authors wish to propose a possible procedure to general practitioners and pediatricians, in order to detect and accompany "high potential" children who they are brought to follow.It is a retrospective longitudinal study which permitted to follow 19 "high potential" children (tested using an IQ test, because of relational or scholar difficulties) during eighteen years of practice, in a general practitioner office. The gathering of clinical data was carried out using the health record of the child and longitudinal notes about pregnancy and neonatal period, about psycho motor development, the schooling, the centers of interest and the activities of the child. The ages of psycho motor acquirement were compared to the ones of the literature.The average age of our sample at the moment of the IQ test was 9 years and 9 months with a majority of boys (16) compared to girls (3); 14 of the children were followed to middle school and 8 to the high school. We highlighted on the one hand significantly precocious development of postural and locomotive acquirement (p0.001) and of cognitive and linguistic acquirement (p0.05) compared to standards of French scales of child development. On the other hand, we noticed cognitive and relational behavioral characteristics specific to the mental functioning of these children. We noticed an important percentage of very precocious relational difficulties (73%) from as soon as preschool and moreover confirmed neuro-psychomotor troubles (22%) and aggressive or anxious behavior troubles (21%) correlated to scholar disengagement beginning in middle school for 50% of them.The forward detection for the precocious attainment is a marker of high potentiality which should draw doctor attention in preparation for prevent eventual learning and behavioral troubles, to provide moral assistance to the parents in their relationships. In case of possible difficulties (psycho-emotional, social, scholar), it's desirable to confirm the precocious attainment by using an IQ test, and complete the evaluation by further investigations (neuropsychological examinations, projective test...) in order to propose the best suited care to child difficulties with the intention to prevent personality troubles and scholar disengagement.

The persistence and predictive value at 3-5 years of age of three signs detected within the first 18 months of life were investigated: phasic stretch reflex in one or both gastrocnemius muscles, imbalance in passive axial tone with an excess of dorsal extension, and a ridge on the squamous sutures. Phasic stretch reflex and at least one of the other signs were found in 14 children during repeated assessments within the first 18 months. The progress of these children was compared with that of 14 matched controls who had repeatedly normal neurological assessments during the first 18 months in the same clinic in Paris. At the age 3-5 years all the children were then assessed blindly by the second author from a pediatric neurological viewpoint and by two psychologists and two psychomotor therapists as well. The parents of the affected children reported significantly more problems in motor/praxis skills, language development and attention. Abnormal neurological signs were also significantly more frequent than in the controls. Suboptimal cognition did not reach significance. The neurological inclusion criteria were still present at 3-5 years old in 86% (vs. respectively 100% and 93% during the first 18 months of life) of this small group of children, while the cranial suture sign was still present in only 28% (vs. 64%). Findings of these three signs during the first 18 months of life may help in predicting long-term neurobehavioral or long-term neuropsychological problems.

Introduction Le developpement de l’ecriture chez l’enfant consiste avant tout en un processus moteur necessitant une coordination suffisante entre le controle tonique, le maintien postural et le deroulement du geste graphique. Il existe pourtant peu de donnees sur les processus moteurs sous-jacents et sur l’organisation gestuelle necessaires a l’acte graphique. L’objectif de cette etude est, a partir d’une analyse cinetique de l’ecriture associee a une analyse de l’organisation segmentale du geste graphomoteur chez l’enfant, de fournir des donnees preliminaires permettant de rendre compte d’une maturation du geste graphomoteur. Materiel et methodes Au total, 262 enfants (4–11 ans), sans trouble d’apprentissage repere, scolarises du CP au CM2, ont ete inclus dans l’etude et ont passe un examen graphomoteur (copie de boucles). Deux types de donnees ont ete relevees : – des donnees cinetiques avec un stylo numerique enregistrant le trace (Eliansoftware-Seldage) ; – des donnees posturo-gestuelles par une observation directe de variables preetablies. Resultats Une analyse preliminaire des variables posturo-gestuelles montrent qu’elles sont correlees avec le niveau d’âge et plus fortement significativement avec le niveau de classe scolaire (p Discussion–conclusion L’organisation developpementale du geste graphomoteur est observable par la synchronisation entre des donnees issues d’une analyse cinetique de la trace graphique et celles issues d’une observation posturo-gestuelle. Cette organisation est dependante du niveau d’âge et donc de la maturation du systeme nerveux mais plus particulierement du niveau de classe et donc de l’apprentissage. Il apparait necessaire de mieux specifier cette organisation developpementale afin de fournir des supports educatifs, d’une part, et de mieux comprendre les specificites des troubles graphiques, d’autre part.

Introduction Le tonus musculaire est a la base du mouvement et son role dans le controle postural est essentiel. Pourtant, le tonus musculaire est rarement etudie dans les troubles du spectre de l’autisme (TSA), malgre la description de nombreux troubles moteurs dans cette pathologie. Materiel et methodes Nous avons etudie le tonus musculaire et la motricite chez 34 enfants avec TSA en utilisant une batterie neuro-developpementale standardisee basee sur des normes francaises chez l’enfant (NP-MOT). Le ballant et l’extensibilite ont ete utilises pour etudier le tonus de fond (passif) au niveau des membres superieurs et inferieurs et de l’axe corporel. La comparaison de la resistance entre les deux hemicorps a permis la determination d’un hemicorps dominant et l’identification d’une lateralite neuromusculaire (tonique). Resultats Nous avons trouve une typologie tonique dysharmonique, avec une hypertonie au niveau des muscles du tronc et des muscles proximaux des membres inferieurs, ainsi qu’une plus grande laxite pour les muscles distaux des membres inferieurs (chevilles) et pour les muscles proximaux et distaux des membres superieurs (poignets et epaules). L’absence de dominance tonique d’un hemicorps sur l’autre a ete constatee de facon significative en comparaison aux normes de la batterie NP-MOT ( p Discussion–conclusion Cette dysregulation tonique phenotypique pourrait expliquer certains des troubles moteurs decrit dans les TSA, notamment les troubles du controle et de l’adaptation de la posture et de l’anticipation. L’examen du tonus musculaire apparait etre un examen preliminaire indispensable, avant toute evaluation de la motricite globale afin de comprendre la nature des troubles moteurs en jeu, dont la presence de signes neurologiques mineurs pouvant coexister.

A cohort of 37 pre-term children was assessed for both morphosyntactical and for vocabulary skills at the age of 2 and again at the age of 3 years and 6 months. They were compared with two comparison groups of full-term children (adjusted age and chronological age). The results indicated (1) a clear asynchrony between the two components of language production assessed at both ages, (2) an accurate prediction of language delay at age 2 for pre-term children (35% of pre-term children were detected for morphosyntax as measured by Mean Length of Utterance and 27% of pre-term children were detected for vocabulary as measured by the number of different words) and, (3) no evidence on the relationship of language and motor development as measured by formal tests. Such findings strongly challenge the validity of standardized developmental tests and support to a certain extent the hypothesis that language development is independent of motor skills. A neurodevelopmental assessment is suggested.

IntroductionThere is currently a resurgence of handwriting difficulties in school-age children. Researches in literature focus on kinematics temporal and spatial measures of letters in the writing process and on clinical performances such as the handwriting scale (BHK). This assessment doesn’t consider the organization and the maturation of the handwriting gesture.ObjectivesWe aim to study the developmental organization of the handwriting gesture to provide developmental standards of reference in order to complete performances measures allowing a better understanding of handwriting disabilities.MethodsHealthy children of elementary school aged between 6 and 11 years old are eligible for inclusion. All children are assessed with neuropsychological and neuropsychomotor evaluations and with handwriting assessment (BHK). Two groups are established, the one with handwriting difficulties and the other one (control group) without writing disorder or learning disabilities. The children were matched for age, gender and school level. All children are filmed with a camera suspended over to observe with specific handwriting tasks, the upper limb gesture about segmental organization of fingers, hand, forearm, arm, shoulder and postural organization.ResultsPreliminary findings show significant differences of the segmental organization of the writing gesture between the two groups. We will discuss the identified causes of the handwriting disorders with the analysis of neuropsychomotor and neurological assessments data in correlation with gesture segmental organization.ConclusionDevelopmental organization of the writing gesture is a possible underlying mechanism of handwriting disabilities. Practically, it appears important to improve news tools of evaluations with gestural writing consideration and to implement it in intervention process.Disclosure of interestThe authors have not supplied their declaration of competing interest.

Developmental outcome of a child (AX) who experienced a tracheostomy at three months are reported. He had prolonged hospitalization and psychomotor therapy in an intensive care unit. The course and the developmental changes are documented from birth to four years. A pattern of delay in speech and language production was found with (a) no hearing loss, (b) no cognitive impairment, (c) an average level of fine motor skills, (d) no behavioral disorders, and (e) a normal auditory comprehension and visual intelligence. His delay of speech and language production with reference to early intervention suggest that it may be a consequence of the asphyxia sustained or possibly of Ehler‐Danlos syndrome.

Children with Developmental Coordination Disorder (DCD) are a group embracing clumsiness and developmental dyspraxia. Our study provides a better understanding of the nature of DCD and its etiology, and identifies subtypes of dyspraxia. Forty-three children with DCD (5-15 years) were enrolled on the Diagnostic and Statistical Manual of Mental Disorders (4th ed. [DSM-IV-TR]; American Psychiatric Association, 2000) criteria. Extensive standardized evaluations were conducted. We distinguished from two patterns of "pure" developmental dyspraxia: ideomotor and visual-spatial/visual-constructional, and mix dyspraxia with more co-morbidities. Our study provides a better understanding of the nature of DCD, and sheds light on its etiology and brain dysfunction, so as to identify subtypes of developmental DCD/dyspraxia with specific clinical criteria.

Introduction Il existe peu de donnees sur la lateralite dans la litterature sur les Troubles du spectre autistique (TSA) et les resultats des etudes restent difficilement interpretables du fait de methodologies diverses, basees sur l’observation, sur des questionnaires ou sur une definition non consensuelle de la dominance manuelle. L’objectif de cette etude est de faire une evaluation fine et complete de la lateralite a partir d’une batterie standardisee francaise d’evaluation developpementale des fonctions neuro-psychomotrices de l’enfant (NP-MOT). Materiel et methodes Trente-quatre enfants (4–11 ans) presentant un TSA selon les criteres du DSM-4-TR ont ete inclus et examines au niveau de leur lateralite selon quatre axes : – la lateralite tonique des membres superieurs et inferieurs a partir de l’examen passif du tonus ; – la lateralite gestuelle spontanee ; – psychosociale au niveau des membres superieurs ; – la lateralite fonctionnelle manuelle, pedestre et oculaire. Nous avons egalement determine un indice de dominance manuelle a partir d’une epreuve de performance manuelle. Les enfants ont ete compare a une norme de reference, quel que soit leur niveau d’efficience. Resultats Le taux de gauchers est plus important (p Discussion–conclusion Les lateralites gestuelle spontanee, tonique et visuelle ne sont pas mises en place chez les enfants avec TSA, suggerant une organisation cerebrale hemispherique differente.

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 the 6- to 10-year-old age range suffering from PDD were compared to paired normal children. When the expressions on faces remained neutral, autistic patients had more difficulty in distinguishing different faces than in matching the same facial identities in face pairs: they perceived different faces as being identical. However, recognition errors disappeared when expressions were changed together with face identity. When autistic children were asked to distinguish expressions, they discriminated better identity than difference, just as normal children do. Analysis of face and expression discrimination in terms of identity and difference is a novel approach for the understanding of the clinical features of autism. Autistic children seek sameness and use an atypical strategy to analyse human faces and expressions.

A longitudinal study of a child (MV) with developmental verbal dyspraxia was conducted to determine to what extent language development and motor performance in this clinical diagnosis followed a similar course of maturation. Patient MV was observed for two years from the age of 5 years and 6 months. Initially, this young patient exhibited unintelligible and atypical speech production (multiword utterances without consonants), delay in balance and coordination, and impairments in rhythmic tasks; but she was otherwise developing normally with no intellectual impairment or behavioral disorder. MRI scans showed moderately enlarged ventricles, a thin, incompletely myelinated corpus callosum and intact basal ganglia. Two years later, MV's performance was nearly normal only in comprehension aspects of language. In contrast, production aspects of language and speech and neuromotor development showed very little improvement after two years. These observations first suggest that development of receptive and expressive domains within language may be asynchronous, and that the progression of motor control of language appears to follow a parallel course to neuromotor development.

Objectives The DSM IV-R criteria for Developemental Coordination Disorder (DCD) involve a marked impairment in the development of motor coordination although visual-spatial, digital and visuo-motor perception, neuromuscular tone, qualitative and quantitative measures impairments related to of gross and fine motor coordination might be used to isolate three main subtypes of DCD/dyspraxia: Ideomotor, Visual-Spatial/Constructional, and a Mix group sharing common impairments with additional comorbidities. This study focus on isolating specific markers with high predictive discriminatory power from a wide range testing battery in a sample of DCD children. Methods Data were collected on 63 children with DCD aged 5-15 years (median 8.1), enrolled on DSM IV-R criteria. Children were free of previous assessment, medication, and therapy followup-up. Each subject underwent a neuropsychological, neuropsychomotor and neurovisual testing batteries comprised of 49 milestones assessment. Results The most salient markers with respect to the three subtypes of dyspraxia studied in this sample are digital praxia, imitation of gestures, digital perception, visual-motor integration, manual dexterity, visual spatial structuration, coordination between upper and lower limbs, and lego blocks. Clustering results suggest Ideomotor patients define a homogeneous group of patients and Mix group with specific difficulties in coordinating lower and upper limbs or poor manual dexterity. Conclusion This study confirms the importance of some aspects of neurovisual processing of spatial information, and motor control in DCD. Less than 15 neurovisual, neuro-psychomotor and neuropsychological milestone tests might be required to provide a sensitive and specific diagnostic of DCD subtypes, and isolated markers allow a better understanding of DCD.

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Objectives The DSM-IV-TR criteria for Developmental Coordination Disorder (DCD) involve a marked impairment in the development of motor coordination although visuo-spatial, digital and visuo-motor perception, neuromuscular tone, qualitative and quantitative measures of gross and fine motor coordination related impairments might be used to isolate three main subtypes of DCD/dyspraxia: ideo-motor, visuo-spatial and constructional, and a mix group sharing common impairments with additional comorbidities. This study focus on isolating specific markers of coordination disorder and their interactions in mix vs. pure form of dyspraxia. Methods Tree-based bagged classifiers were used to highlight relevant markers among 49 pass/fail tests that best discriminate two clinical subgroups based on a sample (N = 63) of 5–15 years old children having IQ in the expected range (40% mix dyspraxia). Model calibration was done on a training sample through nested repeated 5-fold cross-validation while predictive performance were assessed on a held-out validation sample, using a split ratio of 0.7/0.3. Results We found that digital praxia, imitation of gestures, manual dexterity, digital perception, lego blocks, and visual motor integration were among the top most important impairments when predicting subtypes. Specific interactions among those predictors and other impairments (motor pathway, visual evoked potential, language) were shown to provide additional insights into DCD subtyping. Conclusions Taylored follow-up of patients presenting with DCD should consider the specificity of visuo-spatial, neuromotor and neuropsychological impairments whose co-occurrence allow to define different subtypes of DCD.

Resume Cette etude a pour objectif de mettre en evidence les profils psychologiques et physiologiques des enfants a haut potentiel. En effet, certaines caracteristiques sont plus frequemment associees aux hautes potentialites (grossesses anormales, naissances prematurees, myopie, allergies, migraines...). Ces caracteristiques nous amenent a formuler l’existence de perturbations durant la grossesse ayant pour consequence le developpement d’une structure cerebrale singuliere, propre a ces enfants. Notre etude inclut 45 enfants a haut potentiel repartis dans 2 groupes selon l’harmonie de leur profil intellectuel et un groupe de 30 enfants a potentiel normal. Notre recherche confirme la presence de caracteristiques psychologiques, psychopathologiques, physiologiques et sociales des enfants a haut potentiel. L’origine innee ou acquise de ces perturbations n’est pas encore bien determinee. Notre option defend l’hypothese d’une influence combinee des facteurs environnementaux et innes dans le developpement de hautes potentialites chez l’enfant.

Fondee sur des travaux pionniers dans le domaine de la neurologie francaise et de l activite psychomotrice de l enfant d âge pre-scolaire et scolaire, la batterie NP-MOT comble un manque certain dans l evaluation des fonctions neuro-psychomotrices de l enfant. Composee de deux series d epreuves cliniques simples et identiques pour chaque âge, la batterie explore, a travers des items d observation qualitative et quantitative, les fonctions de : * Tonus (membres superieurs, inferieurs et tronc), * Motricite Globale (statique et dynamique), * Lateralite (gestuelle spontanee, usuelle, psychosociale), * Praxies manuelles, * Gnosies tactiles (digitales), * Habilete oculomanuelle, * Orientation spatiale (sur soi, autrui, objets, plan), * Rythme (tempo auditivo-kinesthesique, auditivo-perceptivo-moteur), * Attention auditive (soutenue). Deux etalonnages ont ete etablis : * le premier situant la moyenne (ponderee) pour chaque groupe d âge et les ecarts types de part et d autre de la moyenne, * le second permettant la transformation des notes brutes ponderees en notes standardisees pour chaque groupe d âge (4 ans a 4 ans 9 mois, 4 ans 10 mois a 5 ans 8 mois, 5 ans 9 mois a 6 ans 6 mois, 6 ans 7 mois a 7 ans 5 mois, 7 ans 6 mois a 8 ans 5 mois). La batterie peut etre utilisee en bilan complet ou de maniere parcellaire pour examiner independamment une ou plusieurs fonctions et rendre ainsi possible une evaluation differentielle. L etalonnage propose pour chaque fonction permet de : * suivre l evolution physiologique genetique et apprecier le degre d un retard de maturation du systeme nerveux central ou reperer un trouble plus fonctionnel a valeur symptomatique d ordre neurologique, psychomoteur ou d origine psychique, * deceler des troubles fonctionnels mineurs suffisamment tot, c est-a-dire avant qu ils ne retentissent sur des fonctions d apprentissage (parler, ecrire, lire, calculer) et avant que ne se surajoutent aux troubles organiques des troubles comportementaux ou psychologiques lies aux difficultes d adaptation de l enfant, * suivre le developpement de l enfant, apprecier l evolution du trouble, ses progres, ses limites, et ainsi adapter la reeducation. Materiel a se constituer : un chronometre, un pese-personne, une echelle pour mesurer la taille, un metre ruban couturiere, un tapis de gymnastique, un petit banc ou tabouret (h = 20 a 24 cm), un cerceau (d = 60cm), un marteau-reflexe, deux chaises, une table, un ruban ou une ligne (bande a coller au sol : L = 3m, l = 3cm), une boite ronde ouverte en carton (d = 11cm, h = 3cm, type boite 16 portions "la vache qui rit"), une gomme, un verre en plastique ou gobelet (d = 6.5cm), une petite balle de jonglage (lestee, d = 5cm), 2 baguettes en bois (L = 13cm, d = 8mm), un ballon de mousse (d = 20cm), un petit cube (2.5cm), une poupee, une feuille A4, un metronome.

L’essor actuel des « technologies de rencontre » et leur agencement dans les pratiques de communication pose la question de la reconfiguration des differentes formes d’interactions et de leur place dans la formation de la sociabilite quotidienne. Cet article fait le point sur cette question en combinant les differentes sources de donnees disponibles a travers le projet Entrelacs. Nous mesurons l’ampleur de l’entrelacement entre differents outils de communication vocaux et textuels dans les pratiques : qui mobilise, conjointement ou non, telephonie, SMS, IM et mail, et quels facteurs permettent d’expliquer l’usage de ces outils ? Dans un second temps, nous montrons que ces entrelacements se deploient de maniere differenciee sur les differents reseaux de sociabilite, et font appel a des arbitrages locaux de la part des acteurs.

Notre objectif est de presenter une echelle clinique du developpement moteur recemment developpee, dans les domaines posturo-moteur, locomoteur et de la coordination visuo-manuelle. Elle permet d’etablir un niveau moteur standardise de coordination motrice et d’adaptation posturale. Il existe un gradient d’organisation des acquisitions, c’est-a-dire une augmentation des degres de liberte segmentaire et un ordre de developpement contribuant en retour a un modelage structural des zones cerebrales concernees en cours de maturation. Cette nouvelle echelle permet de souligner l’importance de l’integration sensori-motrice liee a l’action du corps propre de l’individu refletant sa motivation et son affectivite.

Background With a large number of potentially relevant clinical indicators penalization and ensemble learning methods are thought to provide better predictive performance than usual linear predictors. However, little is known about how they perform in clinical studies where few cases are available. We used Random Forests and Partial Least Squares Discriminant Analysis to select the most salient impairments in Developmental Coordination Disorder (DCD) and assess patients similarity. Methods We considered a wide-range testing battery for various neuropsychological and visuo-motor impairments which aimed at characterizing subtypes of DCD in a sample of 63 children. Classifiers were optimized on a training sample, and they were used subsequently to rank the 49 items according to a permuted measure of variable importance. In addition, subtyping consistency was assessed with cluster analysis on the training sample. Clustering fitness and predictive accuracy were evaluated on the validation sample. Results Both classifiers yielded a relevant subset of items impairments that altogether accounted for a sharp discrimination between three DCD subtypes: ideomotor, visual-spatial and constructional, and mixt dyspraxia. The main impairments that were found to characterize the three subtypes were: digital perception, imitations of gestures, digital praxia, lego blocks, visual spatial structuration, visual motor integration, coordination between upper and lower limbs. Classification accuracy was above 90% for all classifiers, and clustering fitness was found to be satisfactory. Conclusions Random Forests and Partial Least Squares Discriminant Analysis are useful tools to extract salient features from a large pool of correlated binary predictors, but also provide a way to assess individuals proximities in a reduced factor space. Less than 15 neuro-visual, neuro-psychomotor and neuro-psychological tests might be required to provide a sensitive and specific diagnostic of DCD on this particular sample, and isolated markers might be used to refine our understanding of DCD in future studies.