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1.
Children (Basel) ; 10(11)2023 Oct 26.
Artigo em Inglês | MEDLINE | ID: mdl-38002829

RESUMO

We aimed to explore the developmental trajectory of depressive symptoms in a national sample of French children with a high intellectual potential (HIP) seeking help from gifted organizations. Participants were drawn from a national retrospective survey sent to 1200 families with HIP children (IQ ≥ 130) from primary to high school and they answered a self-report questionnaire of a depression scale (MDI-C). The children's parents completed a self-report questionnaire collected on different stages of the child's school level, perinatality, psychomotor development, health, family's history, behavior, interpersonal relationships and daily activities, school performance, presence of learning disorders and remediation. Four hundred and twenty HIP children were eligible with an IQ ≥ 130 aged from 8 to 17 years-old, 49% with depressive symptoms and 51% with no depressive symptoms. Analysis of 136 variables from anamnestic fields based on the use of Spearman's ρ test (ρ) with a non-parametric correlations showed that "learning disabilities" are significantly related to depressive symptoms in different groups (primary p = 0.001, middle p = 0.02, high school p = 0.001) as well as "difficulties in psychomotor skills" during primary (p = 0.003) and middle school (p = 0.02). Good relationships with family as well as with peers are significantly negatively correlated with depressive symptoms from childhood to primary (p = 0.003) and high school (p = 0.02). Certain details of correlations between the MDI-C scale's subfactors and anamnestic variables were analyzed. The ANOVA test about the MDI-C scale showed provocation as a significant marker at middle school (F (1, 418) = 3.487, p = 0.03) and low self-esteem at high school (F (1, 418) = 3.337, p = 0.03). A holistic developmental approach allowed us to highlight the risk factors of depression with a developmental trajectory origin linked to disorders of social adjustment and psychomotor skills and to the importance of misdiagnosed learning disabilities because of giftedness. Our findings support the interest in an early identification of and intervention in depression risk to improve clinical decision making on the effect of giftedness on mental health outcomes.

2.
Children (Basel) ; 10(9)2023 Sep 06.
Artigo em Inglês | MEDLINE | ID: mdl-37761473

RESUMO

Handwriting disorders (HDs) are prevalent in school-aged children, with significant interference with academic performances. The current study offers a transdisciplinary approach with the use of normed and standardized clinical assessments of neuropsychomotor, neuropsychological and oculomotor functions. The aim is to provide objective data for a better understanding of the nature and the etiology of HDs. Data from these clinical assessments were analyzed for 27 school-aged children with HD (first to fifth grade). The results underline a high heterogeneity of the children presenting HDs, with many co-occurrences often unknown. However, it was possible to highlight three levels of HDs based on BHK scores: mild HD not detected by the BHK test (26% of children), moderate HD (33%) and dysgraphia (41% of children). The mild nature of the HDs not detected by the BHK test appears to occur at a relatively low frequency of the associated disorders identified during clinical evaluations. On the contrary, dysgraphia appears to be associated with a high frequency of co-occurring disorders identified in the clinical assessment, with a predominance of oculomotor disorders (55% of children), leading to visual-perceptual difficulties and a high level of handwriting deterioration. Finally, children with moderate HD have fewer co-occurrences than children with dysgraphia, but have more difficulties than children with mild HD. This highlights the importance of differentiating between different degrees of HDs that do not respond to the same semiologies. Our findings support the interest in performing a transdisciplinary and standardized clinical examination with developmental standards (neuropsychomotor, neuropsychological and oculomotor) in children with HD. Indeed, HDs can therefore be associated with a multitude of disorders of different natures ranging from poor coordination of the graphomotor gesture to a more general and more complex impairment affecting perceptual-motor, cognitive and/or psycho-affective functions.

3.
Children (Basel) ; 10(2)2023 Feb 05.
Artigo em Inglês | MEDLINE | ID: mdl-36832434

RESUMO

Handwriting disorders (HDs) are mainly assessed using script or cursive handwriting tasks. The most common is the scale for children's handwriting, with a French adaptation (BHK). The present study aims to assess the concurrent validity of a pre-scriptural task (copying a line of cycloid loops) with the BHK for the diagnosis of HDs. Thirty-five primary school children (7 females, 28 males) with HD aged 6-11 years were recruited and compared to 331 typically developing children (TDC). Spatial/temporal/kinematic measures were collected using a digital pen on a paper. Posture and inter-segmental writing arm coordination were video recorded. A logistic regression statistical method, including a receiver-operating characteristic curve, was used to assess the ability of the task to predict HD. Gestural patterns were significantly less mature in HDs than in TDC (p < 0.05), and associated with poorer quality, less fluid, and slower drawing (p < 0.001). Moreover, good correlations between temporal and kinematic measures and the BHK scale were found. Number of strokes, total drawing time, in-air pauses times, and number of velocity peaks showed very good sensitivity (88%) and specificity (74%) to diagnose HDs. Consequently, the cycloid loops task is an easy, robust, and predictive tool for clinicians to identify HDs before the alphabet is mastered.

4.
Pediatr Diabetes ; 23(6): 675-692, 2022 09.
Artigo em Inglês | MEDLINE | ID: mdl-35657808

RESUMO

OBJECTIVE: 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. RESEARCH DESIGN AND METHODS: 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. RESULTS: 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%; I2  = 54%) overall and 73% (95%CI, 32%-113%; I2  = 0%) in the subgroup younger than 4 years; the level of evidence was moderate and high, respectively. EEG studies of epilepsy showed a RD of 56% (95%CI, 23%-89%; I2  = 34%) in patients with KCNJ11 mutations, with a high quality of evidence. For hypotonia and motor function, the RDs were 90% (95%CI, 69%-111%; I2  = 0%) and 73% (95%CI, 35%-111%; I2  = 0%), respectively, with a high level of evidence. CONCLUSIONS: Glibenclamide 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.


Assuntos
Diabetes Mellitus , Epilepsia , Doenças do Recém-Nascido , Canais de Potássio Corretores do Fluxo de Internalização , Adulto , Criança , Diabetes Mellitus/tratamento farmacológico , Diabetes Mellitus/genética , Epilepsia/genética , Glibureto , Humanos , Recém-Nascido , Doenças do Recém-Nascido/tratamento farmacológico , Doenças do Recém-Nascido/genética , Canais KATP/genética , Hipotonia Muscular , Mutação , Canais de Potássio Corretores do Fluxo de Internalização/genética , Compostos de Sulfonilureia/uso terapêutico , Receptores de Sulfonilureias/genética
5.
J Neurosurg Pediatr ; : 1-10, 2022 May 20.
Artigo em Inglês | MEDLINE | ID: mdl-35594879

RESUMO

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.

6.
J Neurosurg Pediatr ; : 1-12, 2022 May 20.
Artigo em Inglês | MEDLINE | ID: mdl-35594888

RESUMO

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.

7.
Sci Rep ; 11(1): 23537, 2021 12 07.
Artigo em Inglês | MEDLINE | ID: mdl-34876643

RESUMO

Handwriting disorders (HD) are considered one of the major public health problems among school-aged children worldwide with significant interference on academic performances. The current study hypothesized that HD could be partly explained by a deficit in sensory feedback processing during handwriting. To explore this hypothesis, we have analyzed the effect of vision suppression on postural-gestural and on spatial/temporal/kinematic organization of drawing during an early pre-scriptural loop task with a digital pen, under two conditions: eyes open and eyes closed. Data collected from 35 children with HD were compared to data collected from typical children (typical group) from primary schools. The HD group showed significantly poorer postural control and an improvement on the spatial/temporal/kinematic organization of drawings when they closed their eyes compared to eyes opened. While in the typical group, postural-gestural organization became significantly more mature but there was no significant influence found on spatial/temporal/kinematic parameters of the loops. Thus, handwriting disorders could be explained by both proprioceptive/kinesthetic feedback disabilities and a disruptive effect of the visual control on the quality of the pre-scriptural drawings among these children who have kinesthetic memory and visuospatial disabilities. The ability of directing the strokes would remain dependent on sensory feedbacks, themselves insufficiently efficient, which would lead to difficulties in reaching a proactive control of handwriting. This current research is a liable contribution to enhance clinical practice, useful in clinical decision-making processes for handwriting disorders remediation.


Assuntos
Mãos/fisiologia , Fenômenos Biomecânicos/fisiologia , Criança , Retroalimentação Sensorial/fisiologia , Feminino , Gestos , Escrita Manual , Humanos , Cinestesia/fisiologia , Masculino , Destreza Motora/fisiologia
8.
Orphanet J Rare Dis ; 16(1): 442, 2021 10 20.
Artigo em Inglês | MEDLINE | ID: mdl-34670591

RESUMO

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.


Assuntos
Doenças do Tecido Conjuntivo , Síndrome de Pierre Robin , Adolescente , Estudos Transversais , Humanos , Fonação , Qualidade de Vida
9.
Sci Rep ; 11(1): 731, 2021 01 12.
Artigo em Inglês | MEDLINE | ID: mdl-33436668

RESUMO

Acquiring writing skills is a long developmental process that is conditioned by both the mastery of the gesture and the spatio-temporal arrangement of characters across the page. While the researches in the literature mainly focused on spatio-temporal and kinematics parameters of tracing letters or words using digitizing tablets, no recent research has previously studied the developmental prerequisites of the organization of handwriting useful for clinical assessment and remediation. Aims of the present study was to investigate and validate the phenotyping of the developmental genesis of pre-scriptural graphomotor gestures among school-aged children in achieving correct handwriting. The subject was examined in depth in an ecological setting similar to school, with the objective of assessing handwriting developmental levels. The pre-scriptural graphomotor task studied was to copy a line of cycloid loops on a paper sheet put on the table. This task was chosen because it reflects the execution of the hand movements from one end of the line to the other and in an anti-clockwise direction, as in handwriting. A new methodological approach was applied incorporating both the maturative evolution of postural-gestural features (video-recorded for analysis in 2D reconstruction) and spatio-temporal/kinematic measures collected with a digital pen connected to an analysis software tool to assess the developmental level and provide an understanding of the phenotypical features of the graphomotor gesture. And we also evidence the concurrent validity of the data in displacements, and the better are the spatio-temporal and kinematic measures. Consequently there are phenotypical features, both postural-gestural and spatio-temporal/kinematic in the developmental genesis of the graphomotor gesture with an easy pre-scriptural task. Typically developing school children from 1st to 5th grade, was collected from elementary schools. Five main patterns of displacement gestures were found for the production of the line of loops with a significant developmental progress from 1st to 5th grade. In addition, significant results in comparisons with spatio-temporal and kinematic age-related normative data were highlighted, associated with the quality of the coordination gesture. Lastly external validity in relation to normative values with the standardized handwriting scale BHK (French adaptation of the Concise Evaluation Scale for Children's handwriting) showed certain significant correlations with spatio-temporal and kinematic measures and the evolution of the displacement gestures (five patterns) used to draw the loops. The better the motor control of the handwriting gesture, the less variety there is in inter-segmental and joint-scriptural task, enabling handwriting developmental levels to be assessed in screening for handwriting disorders, possibly co-occurring with other learning disabilities, and also useful in clinical decision-making processes for handwriting remediation, or simply to assist handwriting gesture acquisition in elementary school.


Assuntos
Gestos , Mãos/fisiologia , Escrita Manual , Destreza Motora/fisiologia , Fenótipo , Desempenho Psicomotor , Fenômenos Biomecânicos , Criança , Estudos Transversais , Feminino , Humanos , Masculino , Estudos Prospectivos
10.
Early Hum Dev ; 151: 105240, 2020 12.
Artigo em Inglês | MEDLINE | ID: mdl-33160163

RESUMO

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.


Assuntos
Desenvolvimento Infantil , Recém-Nascido Prematuro/crescimento & desenvolvimento , Movimento , Exame Neurológico/normas , Humanos , Lactente , Recém-Nascido , Recém-Nascido Prematuro/fisiologia , Masculino , Exame Neurológico/métodos , Sensibilidade e Especificidade
11.
Front Pediatr ; 8: 540718, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33102403

RESUMO

Neonatal Diabetes (ND) mellitus is a rare genetic disease (1 in 90,000 live births). It is defined by the presence of severe hyperglycaemia associated with insufficient or no circulating insulin, occurring mainly before 6 months of age and rarely between 6 months and 1 year. Such hyperglycaemia requires either transient treatment with insulin in about half of cases, or permanent insulin treatment. The disease is explained by two major groups of mechanism: malformation of the pancreas with altered insulin-secreting cells development/survival or abnormal function of the existing pancreatic ß cell. The most frequent genetic causes of neonatal diabetes mellitus with abnormal ß cell function are abnormalities of the 6q24 locus and mutations of the ABCC8 or KCNJ11 genes coding for the potassium channel in the pancreatic ß cell. Other genes are associated with pancreas malformation or insufficient ß cells development or destruction of ß cells. Clinically, compared to patients with an ABCC8 or KCNJ11 mutation, patients with a 6q24 abnormality have lower birth weight and height, are younger at diagnosis and remission, and have a higher malformation frequency. Patients with an ABCC8 or KCNJ11 mutation have neurological and neuropsychological disorders in all those tested carefully. Up to 86% of patients who go into remission have recurrent diabetes when they reach puberty, with no difference due to the genetic origin. All these results reinforce the importance of prolonged follow-up by a multidisciplinary pediatric team, and later doctors specializing in adult medicine. 90% of the patients with an ABCC8 or KCNJ11 mutation as well as those with 6q24 anomalies are amenable to a successful switch from insulin injection to oral sulfonylureas.

13.
Orphanet J Rare Dis ; 15(1): 136, 2020 06 03.
Artigo em Inglês | MEDLINE | ID: mdl-32493418

RESUMO

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.


Assuntos
Transtorno do Espectro Autista , Transtorno Autístico , Síndrome CHARGE , Transtorno do Espectro Autista/diagnóstico , Síndrome CHARGE/diagnóstico , Criança , Estudos Transversais , Manual Diagnóstico e Estatístico de Transtornos Mentais , Feminino , Humanos
14.
Psychiatr Genet ; 29(6): 237-242, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-30933046

RESUMO

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.


Assuntos
Anormalidades Múltiplas/genética , Corpo Caloso/metabolismo , Proteínas de Ligação a DNA/genética , Face/anormalidades , Deformidades Congênitas da Mão/genética , Deficiência Intelectual/genética , Micrognatismo/genética , Pescoço/anormalidades , Fatores de Transcrição/genética , Adolescente , Transtorno do Espectro Autista/genética , Benchmarking , Criança , Pré-Escolar , Proteínas de Ligação a DNA/metabolismo , Família , Feminino , Estudos de Associação Genética , Genótipo , Humanos , Masculino , Mutação , Doenças Neuromusculares/genética , Testes Neuropsicológicos , Fenótipo , Fatores de Transcrição/metabolismo , Percepção Visual/genética , Adulto Jovem
15.
J Clin Exp Neuropsychol ; 41(1): 1-14, 2019 02.
Artigo em Inglês | MEDLINE | ID: mdl-29923455

RESUMO

INTRODUCTION: Several authors have suggested the existence of motor disorders associated with developmental coordination disorder (DCD) in individuals with autism spectrum disorder (ASD). However, there are few comparative studies of psychomotor profiles that include assessments of neurological soft signs in children with ASD or DCD. We used a neuropsychomotor assessment for children with ASD from a standardized neurodevelopmental examination to understand the nature of the difficulties these children encounter. To uncover the differences and similarities in psychomotor profiles, we compared the profiles of children with ASD with those of children with DCD and focused on two recently described DCD subgroups: visuospatial-constructional (VSC) and mixed (MX). METHODS: We compared 18 children with ASD and 58 children with DCD (33 with VSC-DCD and 25 with MX-DCD) who were assessed with a battery of French-language tests (the NP-MOT) to evaluate the neuropsychomotor functions associated with visual perception and visual-spatial-motor structuring. RESULTS: Although there were similarities between the profiles of children with ASD and those with DCD (VSC-DCD or MX-DCD), these similarities were not associated with the predictive diagnostic markers that characterized subtypes of DCD. Instead, many variables (visuospatial-motor structuration, synkinetic movements, dynamic balance, manual dexterity, coordination, praxis, bodily spatial integration, and digital perception) differed among the three groups; the best performance was observed in the children with ASD. CONCLUSION: The neuropsychomotor profiles of children with ASD and those with VSC-DCD or MX-DCD differed, and these differences are discussed. Our results highlight that impairments of ASD are specific about lateralization disturbances and support the hypothesis of proprioceptive impairment due to visual fixation problems influenced by muscular tone in relation to the subcortical and cortical structures and possible interhemispheric disorder. Thus, some neuropsychomotor functions that underpin both gestures and a set of motor skills are affected.


Assuntos
Transtorno do Espectro Autista/complicações , Transtornos Motores/complicações , Transtornos das Habilidades Motoras/complicações , Destreza Motora/fisiologia , Adolescente , Transtorno do Espectro Autista/fisiopatologia , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Transtornos Motores/fisiopatologia , Transtornos das Habilidades Motoras/fisiopatologia , Desempenho Psicomotor/fisiologia , Percepção Visual/fisiologia
16.
Neurophysiol Clin ; 48(4): 207-217, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-29605507

RESUMO

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<0.05). 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.


Assuntos
Agrafia/psicologia , Transtornos das Habilidades Motoras/psicologia , Adolescente , Agrafia/complicações , Agrafia/diagnóstico por imagem , Encéfalo/diagnóstico por imagem , Encéfalo/patologia , Criança , Pré-Escolar , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Transtornos das Habilidades Motoras/complicações , Transtornos das Habilidades Motoras/diagnóstico por imagem , Testes Neuropsicológicos , Desempenho Psicomotor
17.
Pediatr Diabetes ; 19(4): 663-669, 2018 06.
Artigo em Inglês | MEDLINE | ID: mdl-29504184

RESUMO

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.


Assuntos
Aberrações Cromossômicas , Cromossomos Humanos Par 6/genética , Diabetes Mellitus/tratamento farmacológico , Diabetes Mellitus/genética , Uso Off-Label , Compostos de Sulfonilureia/uso terapêutico , Feminino , Humanos , Hipoglicemiantes/uso terapêutico , Recém-Nascido , Doenças do Recém-Nascido/tratamento farmacológico , Doenças do Recém-Nascido/genética , Masculino , Resultado do Tratamento
18.
Neurophysiol Clin ; 47(4): 261-268, 2017 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-28784338

RESUMO

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<0.001). 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.


Assuntos
Transtorno do Espectro Autista/complicações , Transtornos Motores/fisiopatologia , Hipotonia Muscular/fisiopatologia , Criança , Pré-Escolar , Feminino , Humanos , Extremidade Inferior/fisiopatologia , Masculino , Transtornos Motores/complicações , Transtornos Motores/diagnóstico , Hipotonia Muscular/complicações , Hipotonia Muscular/diagnóstico , Fenótipo , Extremidade Superior/fisiopatologia
19.
Front Psychol ; 7: 1605, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27812341

RESUMO

Background: An increasing number of clinicians point to similar clinical features between some children with High Intellectual Potential (HIP or "Giftedness" = Total IQ > 2 SD), and children with Autism Spectrum Disorder (ASD) without intellectual or language delay, formerly diagnosed with Asperger Syndrome. Some of these common features are social interaction impairments, special interests, and in some cases high-verbal abilities. The aim of this article is to determine whether these similarities exist at more fundamental levels, other than clinical, and to explore the literature in order to provide empirical support for an overlap between ASD and HIP. Method: First, comparative studies between ASD and HIP children were sought. Because of a lack of data, the respective characteristics of ASD and HIP subjects were explored by a cross-sectional review of different areas of research. Emphasis was placed on psychometric and cognitive evaluations, experimental and developmental assessments, and neurobiological research, following a "bottom-up" procedure. Results: This review highlights the existence of similarities in the neurocognitive, developmental and neurobiological domains between these profiles, which require further study. In addition, the conclusions of several studies show that there are differences between HIP children with a homogeneous Intellectual Quotient profile and children with a heterogeneous Intellectual Quotient profile. Conclusion: HIP seems to cover different developmental profiles, one of which might share features with ASD. A new line of investigation providing a possible starting-point for future research is proposed. Its implications, interesting from both clinical and research perspectives, are discussed.

20.
Front Psychol ; 7: 1292, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27672371

RESUMO

BACKGROUND: Altered motor performance has been described in Autism Spectrum Disorders (ASD) with disturbances in walking; posture, coordination, or arm movements, but some individuals with ASD show no impairment of motor skills. The neuro-developmental processes that underpin the performance of neuro-psychomotor functions have not been widely explored, nor is it clear whether there are neuro-psychomotor functions specifically affected in ASD. Our objective was to focus on the semiology of motor disorders among children with ASD using a neuro-developmental assessment tool. METHOD: Thirty-four children with ASD, with or without intellectual deficit (ID) were recruited in a child psychiatry department and Autism Resource Centers. Initial standard evaluations for diagnosis (psychiatric; psychological; psychomotor) were supplemented by a standardized assessment battery for neuro-developmental psychomotor functions (NP-MOT). RESULTS: The results of some NP-MOT tests differed between children with ASD with ID and those without. However, on the NP-MOT battery, neither of the two groups did well in the bi-manual and finger praxia tests (36 and 52% respectively failed). Manual and digital gnosopraxia showed some deficit (63 and 62% respectively failed). Postural deficits were found in tests for both static equilibrium (64%) and dynamic (52%). There were also difficulties in coordination between the upper and lower limbs in 58% of children. We found 75% failure in motor skills on the M-ABC test. Concerning muscular tone, significant laxity was observed in distal parts of the body (feet and hands), but hypertonia was observed in the proximal muscles of the lower limbs (reduced heel-ear angle). DISCUSSION: The results of manual and digital gnosopraxia tests point to a planning deficit in children with autism. A gesture programming deficit is also highlighted by the poor results in manual praxis, and by failures in the M-ABC tests despite prior training of the child. However, concerning global motor function, a significant difference was observed between children with and without ID. Our findings suggest a semiology of tone deregulation between proximal versus distal muscles, indeterminate tonic laterality, postural control deficit (proprioceptive), impairment of inter-hemispheric coordination (corpus callosum), and neurological soft signs such asdysdiadochokinesia, which leads us to hypothesize a general impairment of motor functions.

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