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In monogenic diabetes due to KCNJ11 and ABCC8 mutations that impair KATP- channel function, sulfonylureas improve long-term glycemic control. Although KATP channels are extensively expressed in the brain, the effect of sulfonylureas on neurological function has varied widely. We evaluated published evidence about potential effects of sulfonylureas on neurological features, especially epilepsy, cognition, motor function and muscular tone, visuo-motor integration, and attention deficits in children and adults with KCNJ11 and ABCC8-related neonatal-onset diabetes mellitus.We conducted a systematic review and meta-analyses of the literature (PROSPERO, CRD42021254782), including individual-patient data, according to PRISMA, using RevMan software. We also graded the level of evidence.We selected 34 of 776 publications. The evaluation of global neurological function before and after sulfonylurea (glibenclamide) treatment in 114 patients yielded a risk difference (RD) of 58% (95%CI, 43%-74%; IGlibenclamide significantly improved neurological abnormalities in patients with neonatal-onset diabetes due to KCNJ11 or ABCC8 mutations. Hypotonia was the symptom that responded best. Earlier treatment initiation was associated with greater benefits.

Background Pierre Robin sequence (PRS) is a heterogeneous condition involving retro(micro)gnathia, glossoptosis and upper airway obstruction, very often with posterior cleft palate. Patients with PRS, either isolated or associated with Stickler syndrome have good intellectual prognosis. Nevertheless, the quality of life in adolescence and the phonatory and morphological outcomes are rarely analysed. We assessed the phonatory and morphological outcomes of 72 cognitively unimpaired adolescents with PRS, studied their oral (COHIP-SF19), vocal (VHI-9i) and generic quality of life (QoL; KIDSCREEN-52), and searched for determinants of these outcomes. Results Two-thirds of our adolescents retained low or moderate phonation difficulties, but risk factors were not identified. For 14%, morphological results were considered disharmonious, with no link to neonatal retrognathia severity. Only one vs two-stage surgery seemed to affect final aesthetic results. The oral QoL of these adolescents was comparable to that of control patients and was significantly better than that of children with other craniofacial malformations (COHIP-SF19 = 17.5, 15.4 and 25.7, respectively). The oral QoL of the adolescents with non-isolated PRS was significantly worse (COHIP-SF19 = 24.2) than that of control patients and close to that of children with other craniofacial malformations. The vocal QoL of the adolescents (mean [SD] VHI-9i = 7.5 [5.4]) was better than that of patients with other voice pathologies and better when phonation was good. The generic QoL of the adolescents was satisfactory but slightly lower than that of controls, especially in dimensions concerning physical well-being, relationships and autonomy. QoL results were lower for adolescents with non-isolated than isolated PRS. Only non-isolated PRS and low oral QoL affected generic QoL. Conclusion Morphological or phonatory impairments remain non-rare in adolescents with PRS but do not seem to be directly responsible for altered QoL. These adolescents, especially those with non-isolated PRS, show self-confidence and social-relation fragility. We must focus on long-term functional and psychological results for PRS patients and improve therapy protocols and follow-up, notably those affecting the oral aspects of the disease.

ARID1B mutations in Coffin-Siris syndrome are a cause of intellectual disability (0.5-1%), with various degrees of autism and agenesis of the corpus callosum (10%). Little is known regarding the cognitive and motor consequences of ARID1B mutations in humans and no link has been made between corpus callosum anomalies and visuospatial and neuromotor dysfunctions. We have investigated the visuospatial and neuromotor phenotype in eight patients with ARID1B mutations. A paramedian sagittal section of the brain MRI was selected, and corpus callosum was measured in anteroposterior length, genu and trunk width. Spearman's rank order coefficients were used to explore correlations between visuospatial and social cognitive variables and dimensions of the corpus callosum. A significant correlation between genu width size and visual cognition was observed. Retrocerebellar cysts were associated with corpus callosum anomalies. Here, we show that corpus callosum anomalies caused in ARID1B mutations may be predictive of the visuospatial and motor phenotype in Coffin-Siris syndrome.

We assessed the phonatory and morphological outcome of 72 cognitively unimpaired adolescents with Pierre Robin Sequence (PRS), studied their generic (Kidscreen-52), oral (COHIP-SF19) and vocal (VHI-9i) qualities of life (QoL), and sought to identify determinants of these outcomes. Two-thirds of our adolescents retained low or moderate phonation difficulties but risk factors for them were not identified. For 14%, esthetic results were considered disharmonious with no link to neonatal retrognathia severity. Only two-stage surgery appeared to have a role in improving esthetic results. The generic QoL of these adolescents was slightly lower than that of control patients, especially in dimensions concerning physical well-being, relationships and autonomy. Patients with non-isolated PRS had lower results than those with isolated PRS. Phonatory and morphological sequelae had no impact on generic QoL. Only non-isolated PRS and a low oral QoL had an impact on generic QoL. The oral QoL of these adolescents was comparable to that of control patients and significantly better than that of children with craniofacial malformations. The oral QoL of the adolescents with non-isolated PRS, was significantly worse than that of control patients and close to that of children with craniofacial malformations. The vocal QoL of our subjects was better than that of patients with other voice pathologies and better when phonation was good.

Des troubles moteurs et psychomoteurs sont frequemment decrits dans la litterature au regard du Trouble du Spectre de l’Autisme (TSA). Cet article propose, a travers une approche neuro-developpementale basee sur des travaux recents, de mettre en avant l’apport de l’evaluation standardisee neuro-psychomotrice d’enfants avec un TSA, afin de mieux comprendre la semiologie et les mecanismes sous-jacents en jeu pouvant expliquer le comportement moteur et cognitif de ces enfants.

OBJECTIVE The authors’ objective was to study clinical, imaging, and neuropsychological changes in children who underwent surgery for a temporal arachnoid cyst (TAC). METHODS Thirty-four children were prospectively assessed similarly at diagnosis and postoperatively (mean 14 months) with clinic visits, images, cognitive tests, and parental questionnaires on mood/behavior and executive functions. The scores were compared pre- and postoperatively for the entire cohort and individually. The scores of 25 children were also compared with a control group of 23 healthy age-matched children. Parents were administered an outcome questionnaire on average 4 years postoperatively. RESULTS The 34 children selected for surgery had signs of raised intracranial pressure (74%) and/or selective neuropsychological disorders presumably linked to cyst location (learning difficulties in 65%, cognitive difficulties in 56%, and mood/behavior difficulties in 47%). The majority of patients had a convex cyst (85%) and underwent microsurgical fenestration (85%). The TAC volume decreased ≥ 50% for 59% of children. On the Wechsler Intelligence Scale, the entire cohort significantly improved on Full Scale IQ and verbal and perceptual nonverbal indexes. Individually, nearly half of the children (47%) highly increased their scores (≥ 15 points) on at least one IQ index and 26% on at least two indexes. Language, working memory, episodic memory, and executive functions were also significantly improved. Improvements were more pronounced in patients with a preoperative heterogeneous profile with isolated lower scores and a left-sided cyst. Parental questionnaires showed reduction in anxiety, aggressiveness, social problems, and daily life executive disorders. Preschool-aged children improved significantly in language and verbal IQ, as did middle/high school–aged children in many domains. Individual analyses revealed improvement in 76% of cases. Cognitive scores were lower for patients preoperatively than for controls and were no longer significantly different postoperatively in verbal fluency, visual memory, and working memory. Four years later, 97% of parents described an improvement in their child, correlated with cognitive improvements. CONCLUSIONS Among children with a TAC, some have no clinical signs or neuropsychological difficulties, and others may show signs of raised intracranial pressure and/or specific neuropsychological disorders that impact daily life and require significant and long-lasting rehabilitation. In these cases, consideration may be given to surgical decompression. It is interesting to note that 76% of this surgically treated cohort improved regardless of the child’s age, particularly in patients with selective disorders and an impact on daily life. However, a larger number of children will need to be investigated before the true benefit of such treatment can be known.

OBJECTIVE The aim of this study was to determine the cognitive profile of children with a temporal arachnoid cyst (TAC) and its impact on daily life. METHODS The authors prospectively analyzed the cognitive and psychological profiles of 100 consecutive children relative to age and cyst characteristics (side, cyst size, and cyst shape: convex or nonconvex) and their outcome 4 years later. RESULTS Mean IQs were normal but with high heterogeneity on Full Scale IQ (FSIQ; range 59–150); 29% of children had at least one Wechsler index below the norm, in particular, Processing Speed and Working Memory Indexes. Impairments were observed in language for 31% of children, as well as in verbal memory (28%), visual memory (23%), executive function (21%), and visual attention (24%). Half of the children (50%) needed rehabilitation for learning difficulties, and 26% had academic difficulties. The parental questionnaire BRIEF (Behavior Rating Inventory of Executive Function) revealed significant executive dysfunctions in daily life for 22% of the children. One-third of the patients (34%) required psychotherapy for anxiety or social disorders, with higher rates in patients with a right-sided cyst and older children. Cyst size had very little neuropsychological impact. Convex cysts were significantly associated with worse performance than nonconvex cysts on all Wechsler indexes and FSIQ, and in language, verbal memory, attention, and visuospatial skills. Children with a convex cyst had significantly more executive and behavior difficulties in daily life and more psychotherapy than other children. The effect of cyst shape was independent of Galassi type and cyst side. Children with a ruptured cyst or an incidentally discovered cyst usually had a good cognitive level. Four years later, children without initial disorders remained stable, whereas those with difficulties who did not undergo surgery needed more rehabilitation and school adaptations. CONCLUSIONS This large cohort study revealed a varied profile of children with a TAC: at initial assessment, 50% had neuropsychological difficulties and needed rehabilitation and/or psychotherapy for learning or behavior difficulties, and 50% had no difficulties, which may explain the debate about this pathology. Patients with neuropsychological difficulties had a heterogeneous profile with normal intelligence but selective cognitive and/or behavior disorders that may have a long-term impact on their quality of life, particularly those with a right-sided cyst. A neuropsychological evaluation is not always necessary for a cyst discovered incidentally, but early evaluation is essential in patients with academic, learning, or psychological disorders. When assessment shows selective disorders presumably linked to cyst location, surgery may be considered, particularly for convex cysts, as this study revealed more effects in association with cyst shape than with cyst size and significantly poorer performance with a convex cyst.

Objective: The neuropsychomotor development in children with high intellectual potential (HIP, IQ>130) remains poorly studied. We aimed to explore their developmental trajectory of motor milestones and anamnestic data regarding their IQ profile. Methods: Wechsler Intelligence Scale for children (WISC-V), health record, and anamnestic questionnaires were analyzed in 68 healthy children (50 HIP/18 neurotypical), aged 6-13 years-old (mean 10y; SD 2.2). Fifty HIP-children were involved in intra-group analysis. Two groups were matched: 18 neurotypical (90130) random children. Results: Significant-negative correlations were shown in the whole sample between full IQ and sitting (7 months) (r=-0.32, p=0.01, [95%CI=-0.52 to-0.09]), walking (12 months) (r=-0.30, p=0.03, [95%CI=-0.51 to-0.01], and the first sentences (18 months) (r=-0.60, p

Objective: Handwriting difficulties are commonly observed in children with high intellectual quotient (HIQ) and generally associated to developmental coordination disorder (DCD) but remain poorly understood. The aim of our study is to refine the specific clinical features of handwriting disorders in children with DCD regarding their IQ level. Method: Neurovisual, neuroimaging, neuropsychological, neuropsychomotor functions, and handwriting performances of 38 children (6-to-12 years-old: mean 9y, SD 2.7), diagnosed with DCD (DSM-5 criteria), were analyzed. Among them, two matched groups were studied according to the Full IQ (FIQ) level: 19 typical-children (FIQ=90-110) and 19 HIQ children (FIQ> 120). Results: Handwriting difficulties were present in both groups without statistical difference. Dysgraphia was significantly related to pyramidal-tract-dysfunction (p=0.01) and electroretinogram abnormalities (p=0.03) in both groups. In HIQ children, a specific marker was identified: visual gnosis impairment associated to deficit of visual-spatial memory. Conclusions: Dysgraphia is a severe diagnosis involving the central nervous system, affecting the motor and neurovisual pathways and it rather appears as a comorbidity to DCD. Neurological-soft-signs and electroretinogram abnormalities can be considered as interesting clinical markers of dysgraphia in children with DCD. Children having FIQ>120 display visual gnosis disorder as a specific clinical marker of dysgraphia.

Background The Motor Functional Development Scale for Young Children (DF-mot) is a developmental tool assessing both gross and fine motor skills in term infants. Aims To examine the concurrent validity of the DF-mot with the Alberta Infants Motor Scale (AIMS) in preterm infants and compare their ability in predicting scores on the Bayley Scales of Infant-Toddler Development (Bayley-III) at 12 months. Study design Retrospective cohort study. Subjects and outcome measures Hundred and eleven infants born at less than 32 weeks' gestation or with a birthweight less than 1500 g were assessed simultaneously on the DF-mot and the AIMS at age 3–5 months. Correlation analysis was used to determine the strength of association between the DF-mot and the AIMS. Among these, 62 were reassessed on the Bayley-III at age 9–12 months. Clinimetric properties were calculated to evaluate their ability to predict motor delay on the Bayley-III. Results The concurrent validity study found a good level of correlation between the two scales (r = 0.79). The predictive validity study showed good sensitivity and negative predictive value for the AIMS 25th centile and the DF-mot -1 standard deviation to predict motor delay at 12 months (respectively Se = 100% and 84%; NPV = 100% and 77.8%). Conclusions The DF-mot is a valid instrument with good predictive validity in preterm infants, suggesting it can be used as a clinical useful tool to assess motor development.

We have been sensitized to children with high intellectual potential (HIP) having difficulties given the number of children consulting in our outpatient medico-psychological centres for scholastic problems (possibly leading to school failure), anxiety disorders or behavioral disorders such as attention deficit/hyperactivity disorder (ADHD), and in which a high intellectual potential was discovered during psychological assessments. It is the contrast, and more precisely the paradox, between the high intellectual potential of these children and their scholastic difficulties (including school failure), and the psychic suffering expressed by some of them, which led us to question, challenge and propose therapeutic and educational care adapted to these children. It is in this context that we created in December 2005 the CNAHP (National Center for Assistance to High Potential children and adolescents) which is a public centre integrated into the hospital-university department of child and adolescent psychiatry at Rennes. It is noteworthy that not all children with HIP have difficulties, and children with school failure or behavioral problems are not always children with HIP. However, it is necessary not to minimize the problem raised by children with HIP with difficulties by ignoring its frequency or by considering that these children are "intelligent" enough to manage by themselves and do not need to be helped, whereas some of them can show school failure and even be de-scholarized. Indeed, based on the definition of the World Health Organization (WHO) of an intellectual Quotient (IQ) above 130 (level corresponding to a statistical threshold), the frequency of children with HIP represents 2.3% of the population of schoolchildren aged 6 to 16. The frequency is therefore not so rare. However, it remains to be determined by French epidemiological studies what is the actual frequency of children with difficulties within a population of children with HIP. The analysis of the CNAHP research data from a clinical population (children with HIP consulting for difficulties) highlights that children with HIP can show major school problems (including school failure, defined here as having or foreseeing repetition of a grade), which corresponds to 7.5% of 611 children with HIP consulting at the CNAHP) and socioemotional problems (emotional regulation disorders) in relation to their high intellectual potential. In particular, anxiety disorders were the most frequent psychiatric disorders observed in this population (40.5%) and were significantly associated with high verbal potential. This significant association requires further studies to avoid establishing a simplistic unidirectional and reductive linear cause-effect relationships. Indeed, a high verbal potential can elicit and/or reinforce anxiety-producing representations, but anxiety disorders may also lead to a defensive over investment of verbal language. The results are discussed in this article and suggest that scholastic and/or psychological difficulties encountered by some children with HIP can be related to their high intellectual potential. It is necessary to develop therapeutic and educational care adapted to these children from a better understanding, based on research results, of their possible difficulties but also cognitive abilities. Even when children with HIP have scholastic and/or psychological difficulties, some of their cognitive skills can be preserved contrary to appearances, with for example, as seen in the CNAHP results, excellent attentional capacities shown by cognitive tests contrasting with behavioral attention deficit reported by parents. These skills are important to identify as they are resources which support the therapeutic and educational project. It is probably through an articulation among professionals from national education, health and research, in alliance with the family (parents, child, and siblings), that advances will be made. In the same way that professionals have been interested in children with intellectual disabilities, it is important to be concerned by children with HIP and difficulties located at the other end of the continuum. It is a question of ethics which concerns both caregivers and teachers. It is also a societal issue that concerns all of us given that the expression of high intellectual and creative potential in children may be essential to the societal development of innovative strategies and each nation's future. Finally, the discussion can be extended to all children, independent of their potential. What we learn from children with HIP and difficulties can be applied to each child: it is important at family, school and societal levels to facilitate the expression of the potential of children, to value their skills, and to help them to remove possible inhibitions of their potential based on individualized projects. The acceptance of singularity and differences in children can contribute to tolerance and the development of creativity, in the interest of the subject and of society.

Summary Objectives Children with developmental coordination disorder (DCD) are particularly affected by handwriting disorders, which remain poorly understood and are not clearly defined. The aim of our study is to provide a better understanding of handwriting disorders, and specifically of dysgraphia in children with DCD. Methods Sixty-five children with DCD (5–15 years), enrolled according to DSM-5, were assessed with handwriting testing and standardized assessments of neuropsychological, neurovisual, MRI and neuropsychomotor functions, with special attention paid to muscular tone examination. Results While handwriting disorders were strongly represented in our sample of children with DCD (89%), dysgraphia appeared uncommon (17%) and was closely related to several specific dysfunctions of laterality establishment; mild pyramidal tract dysfunction with distal phasic stretch reflex (PSR) in lower limbs; digital praxis slowness (both P Discussion In our sample, dysgraphia was closely related to minor neurological dysfunction (MND) suggesting a disturbance of motor control at the level of the corticospinal motor pathway. This highlights the uncommon character of dysgraphia in children with DCD for which diagnosis should be made through a particular attention to evaluation of MND with muscular tone examination. This consideration, both in the research setting and in clinical practice, appears necessary to avoid inaccurate clinical diagnosis and to optimize appropriate therapeutic management.

Resume Nous avons etabli un programme d’intervention de soins developpementaux prophylactiques aupres du nouveau-ne, a terme et premature, et du nourrisson, fonde sur une approche corporelle des competences du bebe. Cette approche s’appuie sur les premices des experiences corporelles du bebe, sensorielles et motrices. Les objectifs developpementaux et de bien-etre couvrent a la fois la prevention posturale et orthopedique par l’attention portee au portage et a la position de couchage du bebe, les trajectoires developpementales et les interactions, la prise en charge du bebe et de ses parents par le toucher multimodal, tout en tenant compte de l’environnement physique et affectif. Il s’agit du programme d’intervention precoce « P.M.S.E », Portages, Manipulations, Sollicitations d’eveil par le toucher sensori-tonico-moteur, et Environnement (position de couchage…), lie aux fonctions tonique, posturo-motrice, emotionnelle et cognitive, visant respectivement l’harmonie du developpement du bebe dans son milieu avec un epanouissement physique, cognitif et psychique.

Chromosome 6 abnormalities such as paternal uniparental isodisomy, paternal 6q24 duplication, and maternal DMR (differentially methylated region) hypomethylation are a common cause of transient neonatal diabetes mellitus (TNDM). Oral sulfonylurea (SU) is used off-label to treat permanent neonatal diabetes mellitus owing to potassium channel mutation but has not been evaluated in TNDM. Our objective was to evaluate the efficacy and safety of SU therapy in chromosome 6-related TNDM. Description of 3 case reports and literature review was the subject of the study. SU therapy was successful in 2 patients (initiated during neonatal life in 1 patient and during relapse in the other) but failed in the other despite the use of high dosage. The literature review identified 11 cases of patients with chromosome 6-related TNDM treated with SU, including 4 treated before remission and 7 after the relapse. SU therapy was consistently effective, although 4 patients treated after the relapse required multiple oral medications. None of the patients needed associated insulin therapy. No side effects of SU or complications of diabetes were reported. SU seems effective and safe in chromosome 6-related TNDM treatment when used to treat the initial episode of diabetes or the relapse. It improves patients' and families' quality of life. SU is available only as oral tablets. A pediatric dosage form would facilitate the treatment of neonates and infants.

IntroductionHandwriting disorder is commonly observed in Developmental Coordination Disorder (DCD) (87-88%) and is often noted in children with high Intellectual Quotient (HIQ).Two mainly pure DCD subtypes: ideomotor-DCD (IM), visuospatial/or visuoconstructional-DCD (VSC) and a mixed subtype (MX) were identified in the literature but nothing is known regarding IQ and dysgraphia.ObjectivesTo refine the specific clinical features of dysgraphia related to DCD subtypes regarding IQ levels.Methods Neurovisual, neuropsychological, neuropsychomotor functions, and handwriting performances of 38 children (6-to-12 years-old: mean 9y, SD 2.7) diagnosed with DCD (DSM-5 criteria) were collected. Two matched groups were analyzed according to their IQ: 19 (TC) typical children (IQ=90-110) and 19 HIQ children (IQ> 120).Results IQ scores were not significantly associated with dysgraphia. There isa significant difference between TC vs HIQ with a lower rate of IM-DCD respectively 11% vs 5% (p=.035) and 68% vs 37% for VSC-DCD (p=.03) but 21% vs 58% in MX-DCD (p=.41). Dysgraphia was significantly more present in TC group with MX-DCD and in HIQ with VSC-DCD. A negative correlation between Kho’s’ cubes test failure (p=.006), visual-spatial memory (p=.05) and VSC-DCD was noted in HIQ group. The deficit of visual spatial memory was significantly related to dysgraphia in HIQ children (p=.01) associated to visual gnosis impairment (p=.03).ConclusionsDysgraphia was significantly found with VSC-DCD subgroup in FIQ>120 with specific features of visual perception disorders suggesting more involvement of the right cortex. These results suggest that VSC-DCD in HIQ could be a neurovisual impairment rather than a pure VSC-DCD.

Notre recherche est une etude longitudinale se deroulant de la naissance a l’âge de quatre ans d’enfants dont les meres ont traverse soit un blues postnatal ordinaire, soit un blues triste, intense et durable, soit une absence de blues. Le blues ordinaire contribuerait a une meilleure regulation du nouveau-ne et des interactions mere-bebe, puis a un developpement global favorable de l’enfant. En revanche, un blues du post-partum triste, intense et durable constituerait l’indice d’une psychopathologie maternelle et serait associe a des difficultes d’ajustement interactif mere-bebe a deux mois, avec un developpement de l’enfant globalement entrave dans sa quatrieme annee. Les enfants dont les meres n’ont pas traverse de blues pourraient etre plus excitables.

"Nous rapportons l’observation clinique transdisciplinaire d’un garcon de 6ans presentant une symptomatologie complexe de type TED-NoS-MCDD. Cet enfant presente des troubles multiples : des signes neurologiques mineurs, des troubles neuro-psychomoteurs averes avec un trouble de l’acquisition de la coordination (TAC), des alterations de la communication, de la pensee et de la regulation des emotions, un trouble du deficit de l’attention (TDA) ; en presence d’un haut potentiel verbal rendant ardue la pose d’un diagnostic clair. L’IRM cerebrale revelera la presence d’un kyste arachnoidien cerebral temporal gauche congenital volumineux exercant un effet de masse sur les structures cerebrales pouvant expliquer une partie de la symptomatologie. Une intervention chirurgicale (decompression par fenestration microchirurgicale) permettra de constater une nette diminution des signes neurologiques mineurs, notamment des troubles neuro-developpementaux moteurs, et des troubles autistiques, soulignant la reversibilite des troubles apres decompression. Ce cas clinique rare montre l’importance d’apprehender l’individu dans sa globalite par le biais de la transdisciplinarite, afin de proposer des evaluations et prises en charges adaptees. A notre connaissance, c’est le premier cas clinique chez l’enfant, rapporte dans la litterature et montrant une association entre kyste arachnoidien temporal et TED-NoS-MCDD [Extrait du resume]"

Background Behavioral problems are an important issue for people with CHARGE syndrome. The similarity of their behavioral traits with those of people with autism raises questions. In a large national cross-sectional study, we used specific standardized tools for diagnosing autism (Autism Diagnostic Interview-Revised and Diagnostic and Statistical Manual of Mental Disorders, 5th edition, DSM-5) and evaluating behavioral disorders (Developmental Behavior Checklist-Parents, DBC-P) to investigate a series of individuals with CHARGE syndrome, defined by Verloes’s criteria. We evaluated their adaptive functioning level and sensory particularities and extracted several data items from medical files to assess as potential risk factors for autism and/or behavioral disorders. Results We investigated 64 individuals with CHARGE syndrome (35 females; mean age 10.7 years, SD 7.1 years). Among 46 participants with complete results for the Autism Diagnostic Interview-Revised (ADI-R), 13 (28%) had a diagnosis of autism according to the ADI-R, and 25 (54%) had a diagnosis of autism spectrum disorder (ASD) according to the DSM-5 criteria. The frequency of autistic traits in the entire group was a continuum. We did not identify any risk factor for ASD but found a negative correlation between the ADI-R score and adaptive functioning level. Among 48 participants with data for the DBC-P, 26 (55%) had behavioral disorders, which were more frequent in patients with radiological brain anomalies, impaired adaptive functioning, later independent walking, and more sensory particularities. Conclusions ASD should be considered to be an independent risk requiring early screening and management in children born with CHARGE syndrome.

Resume L’examen psychomoteur fait partie des examens recommandes par la Haute autorite de sante (HAS) pour le depistage et le diagnostic des troubles du spectre de l’autisme (TSA). Pourtant, l’evaluation standardisee et normee n’est pas systematique dans le cadre d’un bilan psychomoteur aupres de ces enfants, souvent presentes comme difficilement evaluables. But de l’etude Mettre en evidence l’interet et la faisabilite d’une passation d’une batterie d’evaluations standardisees en psychomotricite (la batterie d’evaluations des fonctions neuro-psychomotrices de l’enfant : NP-MOT) aupres d’enfants avec TSA, en analysant les possibilites d’evaluation de ces enfants issues d’une etude recente portant sur l’evaluation des fonctions neuro-psychomotrices d’enfants avec TSA. Patients et methode Au total, 34 enfants âges de 4 a 11 ans et de tout niveau d’efficience ont passe un bilan psychomoteur incluant la batterie normee NP-MOT. Resultats tous les enfants ont pu etre evalues a partir de la batterie NP-MOT, quel que soit leur niveau d’efficience. Conclusion L’evaluation a partir d’un outil standardise, valide et presentant des normes de references est possible dans l’examen psychomoteur d’enfants avec un TSA. L’utilisation d’outils standardises a visee developpementale, comme la batterie NP-MOT, doit etre encouragee aupres des psychomotriciens, mais aussi par les prescripteurs medecins, dans la mesure ou une telle evaluation permet une analyse semiologique et etiologique des troubles psychomoteurs dans les TSA, encore peu connue, mais dont le retentissement peut etre profitable a une meilleure orientation de la prise en charge.

IntroductionHandwriting disorder is considered to be one of the major public health problems among school-aged children worldwide. All the scales in the literature use handwriting tasks but it could be interesting to investigate a more accurate assessment of handwriting difficulties before the development and acquisition of handwriting as such.ObjectivesThe objective of our study is to examine the validity of a prescriptural task consisting of copying a line of cycloid loops in the diagnosis of handwriting disorders.Methods 35 children with handwriting disabilities and 331 typically developing right-handed children in primary school, aged 6-11 years old, were included in the study. They performed a copy of a line of cycloid loops, in an ecological setting, with a paper sheet put on the table. The kinematic measures were recorded with a digital pen. A Receiver Operating Characteristic method (ROC curve) was used to determine whether the loops line copy may be a sensitive test to diagnose handwriting disorders.Results Six kinematic variables recorded during the prescriptural task were found to be relevant markers of handwriting disorders with a sensibility between 0.743 and 0.880: strokes number, total and effective drawing time, in-air pauses times, loops number, number of peaks velocity.ConclusionsThe graphomotor task of copying a line of cycloid loops showed a good sensitivity to diagnose handwriting disorders and appeared to be a good predictor test, more particularly with the variables reflecting the strokes temporal organization.Drawing loops is a rapid graphomotor task, useful for exploring prerequisites of handwriting in screening for handwriting disorders.

Posterior fossa arachnoid cysts (PFAC) are mostly considered as benign lesions of the cerebellum. Although many studies have shown the major role of the cerebellum in modulating movement, language, cognition, and social interaction, there are few studies on the cognitive impact and surgical decompression of PFAC.We present the cases of two brothers successively diagnosed with PFAC and neuropsychological delay. After multidisciplinary discussion with the boys' parents, it was decided to drain these lesions. Clinical signs, cerebral images, and neuropsychological status were assessed on admission and then 1 and 3 years after surgery.At presentation, both children had mild cerebellar signs, associated with cognitive and visual-motor impairments and academic regression. CT scans revealed retrovermian cysts, which were shunted. Post-operatively, both brothers demonstrated improved visual-motor skills and behavior. At follow-up, we observed disappearance of dysarthria and academic delay and significant improvement in cognition especially at the intelligence scale and in language. Fine motor skills had improved but remained slower than the average and writing skills appeared limited.Except for PFAC which impair cerebrospinal fluid circulation or which are responsible for a significant mass effect, most PFAC are usually considered as "asymptomatic" and do not require surgical treatment. The two cases reported herein suggest that these lesions might be responsible for some associated but potentially reversible neuropsychological impairment. In the future, clinical assessment should include neuropsychological evaluation to help inform decision for surgical decompression in these children with PFAC.

Les enfants et adolescents porteurs d’un trouble de l’acquisition de la coordination (tac) forment un groupe heterogene associant une maladresse, la dyspraxie developpementale et le tac. Desormais, depuis 1994, un consensus international a recommande l’utilisation du terme tac pour la recherche et la pratique clinique identifiant ainsi les enfants avec des troubles mineurs de la coordination motrice d’origine developpementale.De recentes etudes explorant une complete semiologie aupres d’enfants et adolescents porteurs d’un tac, avec des investigations poussees sur le plan neuropsychomoteur, psychologique, neuropsychologique et neurovisuel, permettent d’etablir un diagnostic differentiel. Elles mettent en evidence des criteres cliniques predicteurs de sous-groupes de tac purs : (ideomoteur [im] et visuo-spatial et/ou visuo-constructif [vsc]), et un groupe de tac mixte (mx), associant les deux precedents groupes (im et vsc) mais incluant les troubles specifiques de la coordination motrice, avec une comorbidite de signes discrets et de deficits cognitifs. Nous illustrerons la demarche et l’approche clinique ainsi que des indications therapeutiques.

Introduction Il existe de nombreux outils de performance sur les habiletes motrices mais peu d’outils s’appuient sur une approche developpementale. Fondee sur des travaux pionniers dans le domaine de la neurologie francaise, la NP-MOT propose une evaluation a visee neuro-fonctionnelle. Materiel et methodes La NP-MOT comprend l’evaluation normee de neuf fonctions d’integration neuro-psychomotrices avec des subtests identiques quel que soit l’âge, et prenant en compte la composante qualitative et quantitative du mouvement sous forme d’etalonnage (moyenne–ecart-type, note standardisee) : tonus musculaire et signes neurologiques mineurs, motricite globale (equilibre statique, equilibre dynamique), lateralite (gestuelle, usuelle, psychosociale), praxies bi-manuelles et unilaterales, gnosopraxies, gnosies digitales, habilete oculo-manuelle, orientation spatiale du corps, rythme, attention auditive. De plus en plus utilisee a l’international et recommandee par la Haute Autorite de sante en France, elle a egalement fait l’objet d’etudes recentes aupres d’enfants avec un trouble du spectre de l’autisme ou un trouble developpemental de la coordination. Resultats La fidelite test/retest (0,70 a 0,96) et la fidelite inter-examinateur (0,76 a 0,98) sont tres satisfaisantes. Concernant la validite, les correlations item-âge et la note globale avec l’âge sont bonnes. Discussion/Conclusion La NP-MOT contribue a une meilleure semiologie et indication diagnostique permettant une demarche etiologique plus efficace. Elle offre de possibles investigations a tout âge etant donne les normes de maturation qui saturent avant 10 ans. Elle permet de distinguer a partir de 4 ans un deficit d’un retard par rapport a un processus normal de maturation cerebrale et de deceler les troubles cerebraux mineurs discrets, souvent imperceptibles par l’evaluation globale d’habiletes motrices.

Introduction L’ecriture est une praxie s’appuyant sur la maturation du systeme nerveux et necessitant des capacites de coordination des mouvements dans un espace graphique. L’objectif de notre etude est de mettre en evidence l’organisation developpementale segmentaire du geste graphomoteur chez des enfants scolarises du CP au CM2. Materiel et methodes Cent vingt-deux enfants droitiers (6–11 ans) sans trouble d’apprentissage repere, scolarises du CP au CM2, ont ete inclus dans l’etude. L’organisation articulaire (epaule–coude-poignet) et segmentaire (bras–avant-bras-main) du bras scripteur a ete observee de facon ecologique sur table, papier-crayon grâce a deux cameras (reconstruction 2D) filmant l’enfant lors d’une epreuve de copie de boucles cycloides avec la main dominante. Une grille d’observation a ete appliquee a partir des films en inter-examinateurs. Resultats Pour chaque classe scolaire, les variables articulaires/segmentaires correlent les unes avec les autres pour former des patterns de l’organisation typique du geste graphomoteur. Ces patterns varient en fonction de la classe scolaire et mettent en evidence de facon significative une maturation du geste (p Discussion/conclusion L’evolution des patterns d’organisation articulaire et segmentaire du bras scripteur lors d’une epreuve pre-graphique met en evidence la maturation progressive du geste graphomoteur a chaque niveau scolaire qui n’est jamais prise en compte dans les tests d’ecriture chez l’enfant. Il apparait interessant de mieux comprendre l’impact de cette specificite osteoarticulaire developpementale d’organisation du geste graphomoteur au regard de donnees cinetiques souvent relevees a partir de tablettes graphiques. Ceci pourrait avoir des repercutions en termes de depistage et de remediation dans le cadre de la dysgraphie.

Motor symptomatology in autism is currently poorly understood, and still not included in the autism spectrum disorder (ASD) diagnostic criteria, although some studies suggest the presence of motor disturbances in this syndrome. We provide here a literature review on early motor symptoms in autism, focusing on studies on psychomotor issues (tone, postural control, manual dexterity, handedness, praxis). The approach adopted in research to study altered motor behaviors is generally global and there is no detailed semiology of the motor or neuromotor disorders observed in people with ASD. This global approach does not enable understanding of the neuro-developmental mechanisms involved in ASD. Identification of clinical neuro-psychomotor profiles in reference to a standard would help to better understand the origin and the nature of the disorders encountered in ASD, and would thus give new directions for treatment.

Resume But de l’etude L’objectif general de l’etude est d’evaluer les liens entre l’organisation neuropsychomotrice neonatale precoce et le blues du post-partum (BPP) maternel, longitudinalement a partir du post-partum immediat (PPI). La premiere partie de la recherche a identifie trois types d’experience emotionnelle maternelle dans le PPI (BPP ordinaire ; BPP triste, intense et durable ; absence de blues) et mis en evidence une correlation etroite entre blues ordinaire et competences particulieres neonatales. L’objectif de la deuxieme partie de l’etude, qui fait l’objet du present article, etait d’evaluer l’evolution de ces dyades meres-bebes grâce aux interactions mere-bebe a deux mois. Patients et methode La population initiale est de 21 dyades meres-bebes, 13 ont ete revues a deux mois. Deux entretiens cliniques semi-structures (a la maternite et a j10 apres la sortie) ont permis de reperer les symptomes de blues et son caractere transitoire ou durable. Les donnees collectees ont permis la construction d’une classification clinique en trois groupes. Les bebes etaient evalues grâce l’examen de Brazelton (NBAS) a la maternite. A deux mois, les interactions meres-bebes ont ete evaluees par l’echelle de notations globales des interactions mere-bebe. Resultats Les femmes ayant presente un blues triste, intense et durable presentent un desajustement relationnel particulierement franc dans l’interaction avec leur bebe. Les competences neuropsychomotrices des bebes facilitent la qualite generale de leurs interactions avec leurs meres. Les difficultes de regulation des enfants observees a deux mois sont presentes des le PPI. Les bebes les plus en difficulte dans l’interaction avec leur mere a huit semaines, telle qu’observee a l’echelle de notations globales des interactions mere-bebe a deux mois, ont majoritairement de moindres capacites propres d’organisation a la naissance, selon l’examen de Brazelton. Conclusion Tenant compte des caracteristiques et limites methodologiques de l’etude (suivi longitudinal, petit nombre de sujets revus a deux mois), le blues apparait comme une manifestation pronostique pour le lien mere-enfant. Dans sa forme moderee et transitoire, il contribuerait a une meilleure regulation du bebe et a de meilleurs ajustements relationnels ulterieurs entre mere et enfant. Par contre, une BPP triste, intense et durable constitue l’indice d’une psychopathologie maternelle qui se retrouve dans les difficultes d’ajustement interactif mere-bebe deux mois plus tard.

Summary Objective Motor disorders are known in autism spectrum disorder (ASD), but muscle tone assessments are rarely performed. Muscle tone underpins movement. We investigated muscle tone in 34 ASD children using a standardized neuro-developmental battery, which uses the French norms for muscular tone in children. Methods Dangling and extensibility were used to examine passive muscle tone in the upper and lower limbs and the body axis. A comparison between muscles of the right and left sides enabled the determination of tonic laterality. Results We found a disharmonious tonic typology, with a tonic component for the muscles of the trunk and the proximal muscles of the lower limbs and a laxity component for the ankles and the proximal and distal muscles of the upper limbs (wrists and shoulders). No establishment of tonic laterality was found in the upper limbs in 61% of ASD children (P Conclusion The disturbed tonic organization influenced by subcortical structures, such as the cerebellum, may partially explain the motor disorders, and indefinite tonic laterality may also be linked to low hemispheric brain dominance described in autism. This preliminary examination is necessary before any gross motor assessments to understand the nature of movement disorders, explore typologies and highlight possible soft neuro-motor signs.

A detailed assessment of laterality in children with Autism Spectrum Disorder (ASD) was realized, including handedness and other measures (muscle tone, manual performance, dominant eye), using a standardized battery for the developmental assessment of neuro-psychomotor functions. The results of the laterality tests relating to cerebral hemisphere organization (spontaneous gestural laterality and tonic laterality) were different in ASD children, and indicate that the cerebral organization could be disrupted. These assessments, added to the observations of usual laterality most often reported in the literature, provide better understanding of the developmental organization from the pathophysiological point of view in children with ASD.

CHARGE Syndrome (CS) is a rare genetic disease involving somatic malformations and multisensory impairments. The association of CS with autism spectrum disorders remains a controversial issue because it remains challenging to clinically assess symptoms of autism in young children with potential severe somatic conditions, deaf blindness and mental delay and the behavior troubles often encountered in individuals with CS can be considered the consequence of their multisensory deficits and medical history. We report the complex developmental trajectory of a 25-year-old girl with typical CS, with emotional disorders and problematic behaviors that led to a diagnosis of autism. Addressed by a multidimensional and integrative perspective, this situation reveals the coexistence of factors and impairments not causally connected but whose constant interactions during her development must be evaluated. In this way, clinicians can achieve a functional diagnosis enabling the elaboration of a tailored therapeutic proposal.

Malgre l’interet suscite par le blues du post-partum dans la litterature scientifique, celui-ci reste un phenomene encore mal delimite sur le plan clinique et nosographique. Notre objectif etait d’en preciser les contours cliniques en comparant des femmes traversant ce phenomene a des femmes sans blues, et de preciser les differences eventuelles de styles interactifs mere-bebe et leurs consequences sur le developpement premier de l’enfant. Le suivi longitudinal de la naissance aux deux mois de vie de l’enfant a concerne 22 dyades mere-bebe. Nos resultats font ressortir deux groupes distincts de femmes presentant un blues : des meres au blues « habituel » correspondant aux descriptions classiques, et des meres au blues « triste », mais non cliniquement deprimees. Le blues post-natal pourrait temoigner du travail psychique participant a l’elaboration interieure de « l’evenement naissance », dans la mesure ou son absence, de meme que son caractere exclusivement triste, signe une fragilite du pare-excitation et des capacites de contenance maternelle. Surtout, nous montrons que certaines competences precoces du nouveau-ne, notamment l’organisation du reflexe main-bouche a l’examen de Brazelton, sont le fait exclusif des bebes dont la mere presente un blues habituel. Cette acquisition d’une capacite d’auto-reconfort par le nouveau-ne constitue une competence particuliere d’organisation et de coordination tant sur le plan psychomoteur que sur le plan tonico-postural, mais, c’est son association aux qualites psychiques maternelles qui constitue un fait nouveau. Le reperage de cette competence permet de mettre en valeur la dimension precoce de l’echange emotionnel entre mere et enfant probablement presente des la vie in utero. Enfin, dans notre population, la presence d’un blues habituel et d’un reflexe main-bouche des la naissance garantit des interactions mere-bebe a huit semaines ajustees et accordees. Inversement, les echanges mere-bebe a deux mois sont marques par la dysharmonie en cas de blues triste et d’absence de competence main-bouche au Brazelton. Le blues pourrait donc constituer un marqueur du lien intersubjectif mere-bebe et intervenir dans l’evolution neuropsychomotrice de l’enfant.

In the literature, descriptions of children with motor coordination difficulties and clumsy movements have been discussed since the early 1900s. According to the Diagnostic and Statistical Manual of Mental Disorders (DSM-IV), it is a marked impairment in the development of fine or global motor coordination, affecting 6% of school-age children. All these children are characterized for developmental coordination disorder (DCD) in motor learning and new motor skill acquisition, in contrast to adult apraxia which is a disorder in the execution of already learned movements. No consensus has been established about etiology of DCD. Intragroup approach through factor and cluster analysis highlights that motor impairment in DCD children varies both in severity and nature. Indeed, most studies have used screening measures of performance on some developmental milestones derived from global motor tests. A few studies have investigated different functions together with standardized assessments, such as neuromuscular tone and soft signs, qualitative and quantitative measures related to gross and fine motor coordination and the specific difficulties -academic, language, gnosic, visual motor/visual-perceptual, and attentional/executive- n order to allow a better identification of DCD subtypes with diagnostic criteria and to provide an understanding of the mechanisms and of the cerebral involvement.