Publications by authors named "Anne-Gaelle Le Moing"

Introduction: There are no published data on the written language skills of gifted children (GC). The objective of the present study was to evaluate reading abilities of GC vs. normative data from typically developing French children (TDC).

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Purpose: Attentional and executive dysfunctions are the most frequent cognitive disorders in neurofibromatosis type 1 (NF1), with a high prevalence of attention deficit-hyperactivity disorder (ADHD). We (i) compared attentional profiles between NF1 children with and without ADHD and children with primary ADHD criteria and (ii) investigated the possible relationship between attentional disorders and "unidentified bright objects" (UBOs) in NF1.

Methods: This retrospective study included 47 NF1 children, 25 with ADHD criteria (NF1+adhd group), matched for age, sex, and cognitive level with 47 children with primary ADHD (ADHD group).

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Subcortical heterotopias are malformations associated with epilepsy and intellectual disability, characterized by the presence of ectopic neurons in the white matter. Mouse and human heterotopia mutations were identified in the microtubule-binding protein Echinoderm microtubule-associated protein-like 1, EML1. Further exploring pathological mechanisms, we identified a patient with an EML1-like phenotype and a novel genetic variation in DLGAP4.

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Biallelic gene defects in MFSD8 are not only a cause of the late-infantile form of neuronal ceroid lipofuscinosis, but also of rare isolated retinal degeneration. We report clinical and genetic data of seven patients compound heterozygous or homozygous for variants in MFSD8, issued from a French cohort with inherited retinal degeneration, and two additional patients retrieved from a Swiss cohort. Next-generation sequencing of large panels combined with whole-genome sequencing allowed for the identification of twelve variants from which seven were novel.

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Article Synopsis
  • Kleefstra syndrome (KS) is a rare genetic disorder that causes problems like intellectual disability, speech delays, autism, and unique facial features.
  • Two siblings were studied who have KS, and their parents didn't show any signs of the disorder, but a new mutation was found in their dad.
  • This study showed that KS can have different effects, suggesting doctors need to be careful when looking at genetic changes in families to give proper advice.
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EML1 encodes the protein Echinoderm microtubule-associated protein-like 1 or EMAP-1 that binds to the microtubule complex. Mutations in this gene resulting in complex brain malformations have only recently been published with limited clinical descriptions. We provide further clinical and imaging details on three previously published families, and describe two novel unrelated individuals with a homozygous partial EML1 deletion and a homozygous missense variant c.

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  • Fetal ventriculomegaly (VM) is defined as the enlargement of fetal lateral ventricles above 10 mm, with some experts suggesting that cases under 12 mm may not require further ultrasound referral.
  • A study of 127 cases classified VM into three groups based on size and associated conditions, evaluating the outcomes for both pregnancy and infants after one month.
  • Results indicated that smaller VM cases had higher rates of healthy infants compared to larger cases or those with associated malformations, supporting the necessity for systematic ultrasound referrals for all cases of VM regardless of size.
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  • ActiMyo® is a new device that uses sensors to track muscle strength and movement in non-ambulant patients with neuromuscular diseases, allowing for long-term monitoring at home.
  • A pilot study with seven Duchenne Muscular Dystrophy (DMD) patients assessed their upper limb activity using the device during various tasks, revealing four key variables that indicate muscular performance.
  • Results showed that certain movement parameters, like rotation and elevation rates, had strong reliability and correlations with clinical scores, making them potential outcome measures for therapy and clinical trials.
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Background/purpose: Vagus nerve stimulation (VNS) has been demonstrated to be safe and effective for adults and children with drug-resistant epilepsy and is able to improve most types of epilepsy. The aim of this study, in a paediatric population, was to assess the overall efficacy of vagus nerve stimulation on seizures, to assess tolerability and quality of life.

Methods: This single-centre, retrospective study reviewed the files of 29 children in whom a vagus nerve stimulator was implanted between 1995 and 2012.

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Objective: To explore the value of nuclear magnetic resonance (NMR) and functional assessments for follow-up of ambulatory and nonambulatory patients with Duchenne muscular dystrophy (DMD).

Methods: Twenty-five 53-skippable patients with DMD were included in this study; 15 were nonambulatory at baseline. All patients underwent clinical and functional assessments every 6 months using the Motor Function Measure (MFM), hand grip and key pinch strength, MoviPlate, and NMR spectroscopy and imaging studies.

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Background: Exon skipping therapy is an emerging approach in Duchenne Muscular Dystrophy (DMD). Antisense oligonucleotides that induce skipping of exon 51, 44, 45, or 53 are currently being evaluated in clinical trials. These trials were designed on the basis of data available in general DMD population.

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The results of several previous magnetic resonance imaging studies suggest that the fronto-striato-thalamic circuitry is involved in the pathophysiology of attention-deficit/hyperactivity disorder (ADHD). However, few studies have investigated the putative association between quantitative diffusion tensor imaging measurements of subcortical gray matter and subject task performances in children with ADHD. Here, we examined whether reaction time (RT) parameters during a flanker task were correlated with mean diffusivity (MD) measurements in the basal ganglia and thalamus in children with ADHD and in controls.

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Assessment of the upper limb strength in non-ambulant neuromuscular patients remains challenging. Although potential outcome measures have been reported, longitudinal data demonstrating sensitivity to clinical evolution in spinal muscular atrophy patients are critically lacking. Our study recruited 23 non-ambulant patients, 16 patients (males/females = 6/10; median age 15.

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Introduction: Upper limb evaluation of patients with Duchenne Muscular Dystrophy is crucially important to evaluations of efficacy of new treatments in non-ambulant patients. In patients who have lost ambulation, there are few validated and informative outcome measures. In addition, longitudinal data demonstrating sensitivity to clinical evolution of outcome measures over short-term periods are lacking.

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Infantile Spasms syndrome (ISs) is a characterized by epileptic spasms occurring in clusters with an onset in the first year of life. West syndrome represents a subset of ISs that associates spasms in clusters, a hypsarrhythmia EEG pattern and a developmental arrest or regression. Aetiology of ISs is widely heterogeneous including many genetic causes.

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Array comparative genomic hybridization (array CGH) has proven its utility in uncovering cryptic rearrangements in patients with X-linked intellectual disability. In 2009, Giorda et al. identified inherited and de novo recurrent Xp11.

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We report on a 5-year-old girl who presented with an association of symptoms reminiscent of an Ullrich-like congenital muscular dystrophy including congenital hypotonia, proximal joint contractures, hyperlaxity of distal joints, normal cognitive development, and kyphoscoliosis. There was an excess of neuromuscular spindles on the skeletal muscle biopsy. This very peculiar feature on muscle biopsy has been reported only in patients with mutations in the HRAS gene.

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Neuronal migration disorders such as lissencephaly and subcortical band heterotopia are associated with epilepsy and intellectual disability. DCX, PAFAH1B1 and TUBA1A are mutated in these disorders; however, corresponding mouse mutants do not show heterotopic neurons in the neocortex. In contrast, spontaneously arisen HeCo mice display this phenotype, and our study revealed that misplaced apical progenitors contribute to heterotopia formation.

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Objective: A failure of the anti-phase synchronization between default-mode (DMN) and task-positive networks (TPN) may be involved in a main manifestation of ADHD: moment-to-moment variability. The study investigated whereby methylphenidate may improve TPN/DMN synchronization in ADHD.

Method: Eleven drug-naive ADHD children and 11 typically developing (TD) children performed a flanker task during functional magnetic resonance imaging.

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