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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). Like English, French is considered to be an opaque language., Method: GC completed the Wechsler Intelligence Scales and a battery of language tests. Only children with a score two standard deviations (SD) above the norm were included. GC with current or past academic difficulties or specific learning disorders were excluded. The GC's scores were compared with TDC's normative scores for language tests in a chi-square-test and corrected for multiple comparisons., Results: Forty-five GC were included. The highest GC's mean scores were for the WISC's Verbal Comprehension Index (VCI) and the lowest for the Processing Speed Index (from more than two SDs to one SD higher above the TDC's normative scores). GC were between 1.3 and 4.7 times more likely than TDC to achieve a high score. After correction, the distributions of the GC's and TDC's scores differed significantly with regard to spoonerism, phoneme deletion, and rapid automatic naming ( p  < 0.001), word and sentence repetition ( p  ≤ 0.007), and the reading of meaningful text ( p  = 0.03). GC and TDC did not differ significantly for reading meaningless texts and spelling accuracy., Discussion: As described in the literature, the GC in the present study had heterogeneous scores on the Wechsler Intelligence Scales. The GC performed better than TDC in assessments of the underlying skills of reading and when reading of meaningful texts. This advantage was lost in the absence of context, as shown by the lack of significant GC vs. TDC differences for reading meaningless texts and for spelling accuracy. Hence, GC presented a heterogeneous profile with regard to the underlying skills of reading and reading abilities. The present data should help to improve our understanding of GC's reading skills. In particular, it is now essential to determine which written language tests and which score thresholds are appropriate for identifying specific learning disorders in GC., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2024 Lesecq, Querne, Gornes, Buffo, Corbel, Le Moing, Berquin and Bourdin.)

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). We collected computer task (sustained-attention, visuomotor-decision, inhibition, and cognitive-flexibility tasks) scores normalized for age and sex, and brain magnetic resonance imaging data., Results: (i) Working memory was impaired in all groups. (ii) Omissions (p < 0.002) and response-time variability (p < 0.05) in sustained-attention and visuomotor-decision tasks and errors (p < 0.02) in the cognitive-flexibility task were lower for the NFI+adhd and ADHD groups than for the NF1-no-adhd group. (iii) The NF1+adhd group had slower response times (p ≤ 0.02) for inhibition and visuomotor-decision tasks than the other groups. (iv) We found no relevant association between cognitive performance and UBOs., Conclusions: NF1 children with ADHD have an attentional and executive functions deficit profile similar to that of children with primary ADHD, but with a slower response-time, increasing learning difficulties. The atypical connectivity of fronto-striatal pathways, poorer dopamine homeostasis, and increased GABA inhibition observed in NF1 renders vulnerable the development of the widely distributed neural networks that support attentional, working-memory, and executive functions., (Copyright © 2024 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.)

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. Among them were one deep intronic variant c.998+1669A>G, one large deletion encompassing exon 9 and 10, and a silent change c.750A>G. Transcript analysis performed on patients’ lymphoblastoid cell lines revealed the creation of a donor splice site by c.998+1669A>G, resulting in a 140 bp pseudoexon insertion in intron 10. Variant c.750A>G produced exon 8 skipping. In silico and in cellulo studies of these variants allowed us to assign the pathogenic effect, and showed that the combination of at least one severe variant with a moderate one leads to isolated retinal dystrophy, whereas the combination in trans of two severe variants is responsible for early onset severe retinal dystrophy in the context of late-infantile neuronal ceroid lipofuscinosis.

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.760G>A, p.(Val254Met), respectively. From review of the clinical and imaging data of eight individuals from five families with biallelic EML1 variants, a very consistent imaging phenotype emerges. The clinical syndrome is characterized by mainly neurological features including severe developmental delay, drug-resistant seizures and visual impairment. On brain imaging there is megalencephaly with a characteristic ribbon-like subcortical heterotopia combined with partial or complete callosal agenesis and an overlying polymicrogyria-like cortical malformation. Several of its features can be recognized on prenatal imaging especially the abnormaly formed lateral ventricles, hydrocephalus (in half of the cases) and suspicion of a neuronal migration disorder. In conclusion, biallelic EML1 disease-causing variants cause a highly specific pattern of congenital brain malformations, severe developmental delay, seizures and visual impairment., (© 2019 The Authors. American Journal of Medical Genetics Part C: Seminars in Medical Genetics published by Wiley Periodicals, Inc.)

Background: Fetal ventriculomegaly (VM) is defined as lateral ventricles measured above 10 mm. Some authors believe VM <12 mm are variants of the norm and need not be addressed for referral ultrasound., Methods: A retrospective continuous cohort study of 127 confirmed fetal VM was divided into three groups after initial referral sonographic assessment: isolated VM <12 mm (group A), isolated VM ≥12 mm (group B), and VM associated with other malformations (group C). We reviewed obstetric outcome and neonate evolution after 1 month with the aim of defining a pertinent prenatal workup., Results: We reported fetal infections in all groups (p = .24) and chromosomal abnormalities only in group C (p = .41). Fetal magnetic resonance imaging (MRI) found initially undiagnosed brain abnormalities in groups B and C (12.5 and 14.1%, p < .05). Ratios of healthy children after 1 month stemming, respectively, from groups A, B, and C were 66.7, 62.5, and 20.2% (p < .05)., Conclusions: Our results are in favor of a systematic referral ultrasound for every fetal VM, regardless of size, as soon as definition criterion is met. Additional paraclinical assessment (maternal serologic status for toxoplasmosis and cytomegalovirus, amniocentesis, fetal cerebral MRI) should be discussed depending on the situation.

Objective: Although ketamine analgesia is effective in reducing pain and facilitating the tracheal intubation of newborns in the delivery room, no data on the neurological effects of this treatment are available. This study compared the neurodevelopmental outcomes at 2 years of age in a cohort of preterm newborns having received ketamine prior to tracheal intubation at birth (the ketamine group) and in a control group., Methods: We included newborns delivered at less than 33 weeks gestational age (WGA) having undergone tracheal intubation at birth. The Ages and Stages Questionnaire (ASQ) was completed at 1 and 2 years of age. The development quotient (DQ) was calculated from the revised Brunet-Lezine score assessed at a corrected age of 2 years., Results: There were no statistically significant differences between the ketamine group (n=54 at 1 year and n=51 at 2 years) and the control group (n=16 at 1 and 2 years) in terms of the mean±standard deviation DQ at the age of 2 (98±12 vs. 103±9, respectively; P=0.17) and the ASQ score at the age of 2 (221±44 vs. 230±39, respectively; P=0.55)., Discussion: This prospective cohort of 51 preterm newborns having received ketamine at birth did not reveal any differences in terms of neurological development at the age of 2 (relative to a control group and the literature data). These preliminary results must be confirmed in a randomized trial with longer follow-up., (Copyright © 2018 Elsevier Masson SAS. All rights reserved.)

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. The ADHD group was scanned without and 1 month later with methylphenidate. The signal was analyzed by independent component analysis., Results: The TD group showed anti-phase DMN/TPN synchronization. The unmedicated ADHD group showed synchronous activity in the posterior DMN only, which was positively correlated with response time variability for the flanker task. Methylphenidate initiated a partial anti-phase TPN/DMN synchronization, reduced variability, and abolished the variability/DMN correlation., Conclusion: Although results should be interpreted cautiously because the sample size is small, they suggest that a failure of the TPN/DMN synchronization could be involved in the moment-to-moment variability in ADHD. Methylphenidate initiated TPN/DMN synchronization, which in turn appeared to reduce variability.

Unlabelled: Measurement of muscle strength and activity of upper limbs of non-ambulant patients with neuromuscular diseases is a major challenge. ActiMyo® is an innovative device that uses magneto-inertial sensors to record angular velocities and linear accelerations that can be used over long periods of time in the home environment. The device was designed to insure long-term stability and good signal to noise ratio, even for very weak movements. In order to determine relevant and pertinent clinical variables with potential for use as outcome measures in clinical trials or to guide therapy decisions, we performed a pilot study in non-ambulant neuromuscular patients. We report here data from seven Duchenne Muscular Dystrophy (DMD) patients (mean age 18.5 ± 5.5 years) collected in a clinical setting. Patients were assessed while wearing the device during performance of validated tasks (MoviPlate, Box and Block test and Minnesota test) and tasks mimicking daily living. The ActiMyo® sensors were placed on the wrists during all the tests. Software designed for use with the device computed several variables to qualify and quantify muscular activity in the non-ambulant subjects. Four variables representative of upper limb activity were studied: the rotation rate, the ratio of the vertical component in the overall acceleration, the hand elevation rate, and an estimate of the power of the upper limb. The correlations between clinical data and physical activity and the ActiMyo® movement parameters were analyzed. The mean of the rotation rate and mean of the elevation rate appeared promising since these variables had the best reliability scores and correlations with task scores. Parameters could be computed even in a patient with a Brooke functional score of 6. The variables chosen are good candidates as potential outcome measures in non-ambulant patients with Duchenne Muscular Dystrophy and use of the ActiMyo® is currently being explored in home environment., Trial Registration: ClinicalTrials.gov NCT01611597.

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. The response rate (greater than 50% reduction of the seizure frequency), antiepileptic efficacy according to the type of epilepsy or age at implantation or age at onset of epilepsy, the time-course of seizures, adverse effects, overall quality of life and number of hospitalisations were studied., Results: In our population, vagus nerve stimulation achieved a significant reduction in the seizure frequency throughout follow-up (p = 0.015). Response rates were 59% at 3 months, and 66% at 6 months, and the response rate then remained stable at about 70%. Stimulation tended to be more effective in patients with non-idiopathic partial epilepsy than in patients with non-idiopathic and idiopathic generalised epilepsy (0.01 < p < 0.11). No other predictive factors of efficacy were identified. Patients, parents, caregivers reported improvement in overall quality of life in 38% of patients during clinical interviews. A significant reduction in the number of hospitalisations due to a reduction of seizure frequency was observed after implantation (p = 0.03). VNS was stopped because of complications or insufficient efficacy in 9 cases., Conclusion: Vagus nerve stimulation is a safe and effective treatment option in children with drug-resistant epilepsy who are not candidates for surgery., (Copyright © 2016 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.)

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., Results: Upper limb distal strength decreased in nonambulatory patients over the period of 1 year; ambulatory patients showed improvement during the same period. The same applied for several NMRS indices, such as phosphocreatine/adenosine triphosphate, which decreased in older patients but increased in younger ambulatory patients. Fat infiltration in the upper limbs increased linearly with age. Almost all NMR and functional assessment results correlated., Conclusions: Our results underscore complementarity of functional and NMR assessments in patients with DMD. Sensitivity to change of various indices may differ according to disease stage., (© 2016 American Academy of Neurology.)

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., Objectives: Our objective was to compare the clinical and functional statuses of non-ambulant DMD patients theoretically treatable by exon 53 skipping and of DMD patients with other mutations., Methods: We first compared fifteen non-ambulant DMD patients carrying deletions theoretically treatable by exon 53 skipping (DMD-53) with fifteen closely age-matched DMD patients with mutations not treatable by exon 53 skipping (DMD-all-non-53) then with fifteen DMD patients carrying deletions not treatable by exon 53 skipping (DMD-del-non-53)., Results: We found that DMD-53 patients had a lower left ventricular ejection fraction, more contractures and they tend to have weaker grips and pinch strengths than other DMD patients. DMD-53 patients lost ambulation significantly younger than other DMD patients. This result was confirmed by comparing ages at loss of ambulation in all non-ambulant DMD patients of the DMD cohort identified in a molecular diagnostic lab., Conclusions: These prospective and retrospective data demonstrate that DMD-53 patients have clinically more severe phenotypes than other DMD patients.

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. For the study group as a whole, both the mean RT and the intra-individual variability in RTs were found to be significantly correlated with MD measurements in the right and left caudate, putamen and thalamus. In contrast, the correlation between the interference effect and MD failed to reach statistical significance. The present results may advance our understanding of the anatomical substrates of ADHD., (Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.)

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 15.4 years with a range from 10.7 to 31.1 years) with spinal muscular atrophy type II and 7 patients (males/females = 2/5; median age 19.9 years with a range from 8.3 to 29.9 years) with type III. The Brooke functional score was on median 3 with a range from 2 to 6. The average total vital capacity was 46%, and seven patients required non-invasive ventilation at night. Patients were assessed at baseline, 6 months, and 1 year using the Motor Function Measure and innovative devices MyoGrip, MyoPinch, and MoviPlate, which assess handgrip strength, key pinch strength, and hand/finger extension-flexion function, respectively. The study demonstrated the feasibility and reliability of these measures for all patients, and sensitivity to negative changes after the age of 14 years. The younger patients showed an increase of the distal force in the follow-up period. The distal force measurements and function were correlated to different functional scales. These data represent an important step in the process of validating these devices as potential outcome measures for future clinical trials.

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., Patients and Methods: We report here the results of a one-year multicenter study using specifically designed tools to assess grip, pinch strength, and hand function in wheelchair-bound patients. Our study assessed 53 non-ambulant patients with Duchenne muscular dystrophy aged 17.1 ± 4.8 years (range: 9 - 28.1 years). The average Brooke functional score of these patients was 4.6 ± 1.1. The average forced vital capacity was 44.5% predicted and 19 patients used non-invasive ventilation. Patients were assessed at baseline, 6 months, and one year using the Motor Function Measure and innovative devices (namely the MyoSet composed of MyoGrip, MyoPinch, and MoviPlate)., Results: Our study confirmed preliminary data previously reported regarding feasibility of use and of reliability of the MyoSet and the correlation at baseline between distal strength and clinical outcomes such as FVC, Brooke score, age, and duration since loss of ambulation. A significant correlation was observed between the distal upper limb strength and clinical variables. The sensitive dynamometers (MyoGrip and MyoPinch) and MoviPlate captured a 12-month change in non-ambulant Duchenne muscular dystrophy patients of all ages., Trial Registration: ClinicalTrials.gov NCT00993161 NCT00993161.

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. Many patients, however, remain without etiological diagnosis, which is critical for prognostic purpose and genetic counselling. In the present study, we performed genetic screening of 73 patients with different types of ISs by array-CGH and molecular analysis of 5 genes: CDKL5, STXBP1, KCNQ2, and GRIN2A, whose mutations cause different types of epileptic encephalopathies, including ISs, as well as MAGI2, which was suggested to be related to a subset of ISs. In total, we found a disease-causing mutation or CNV (Copy Number Variation) in 15% of the patients. These included 6 point mutations found in CDKL5 (n = 3) and STXBP1 (n = 3), 3 microdeletions (10 Mb in 2q24.3, 3.2 Mb in 5q14.3 including the region upstream to MEF2C, and 256 kb in 9q34 disrupting EHMT1), and 2 microduplications (671 kb in 2q24.3 encompassing SCN2A, and 11.93 Mb in Xq28). In addition, we discuss 3 CNVs as potential risk factors, including one 16p12.1 deletion, one intronic deletion of the NEDD4 gene, and one intronic deletion of CALN1 gene. The present findings highlight the efficacy of combined cytogenetic and targeted mutation screening to improve the diagnostic yield in patient with ISs., (Copyright © 2014 Elsevier Masson SAS. All rights reserved.)

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 Xp11.23p11.22 microduplications in two males and six females from a wide cohort of patients presenting with syndromic intellectual disability. To date, 14 females and 5 males with an overlapping microduplication have been reported in the literature. To further characterize this emerging syndrome, we collected clinical and microarray data from 17 new patients, 10 females, and 7 males. The Xp11.23p11.2 microduplications detected by array CGH ranged in size from 331 Kb to 8.9 Mb. Five patients harbored 4.5 Mb recurrent duplications mediated by non-allelic homologous recombination between segmental duplications and 12 harbored atypical duplications. The chromosomal rearrangement occurred de novo in eight patients and was inherited in six affected males from three families. Patients shared several common major characteristics including moderate to severe intellectual disability, early onset of puberty, language impairment, and age related epileptic syndromes such as West syndrome and focal epilepsy with activation during sleep evolving in some patients to continuous spikes-and-waves during slow sleep. Atypical microduplications allowed us to identify minimal critical regions that might be responsible for specific clinical findings of the syndrome and to suggest possible candidate genes: FTSJ1 and SHROOM4 for intellectual disability along with PQBP1 and SLC35A2 for epilepsy. Xp11.23p11.22 microduplication is a recently-recognized syndrome associated with intellectual disability, epilepsy, and early onset of puberty in females. In this study, we propose several genes that could contribute to the phenotype., (© 2014 Wiley Periodicals, Inc.)

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. Sequence analysis of the subject's HRAS gene from blood leukocytes and skeletal muscle revealed a previously described heterozygous missense mutation (c.187G>A, p. Glu63Lys). The present report thus extends the differential diagnosis of congenital muscular dystrophy with major "retractile" phenotypes and adds congenital muscular dystrophy to the clinical spectrum of HRAS-related disorders., (Copyright © 2014 Elsevier B.V. All rights reserved.)

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. While HeCo neurons migrated at the same speed as wild type, abnormally distributed dividing progenitors were found throughout the cortical wall from embryonic day 13. We identified Eml1, encoding a microtubule-associated protein, as the gene mutated in HeCo mice. Full-length transcripts were lacking as a result of a retrotransposon insertion in an intron. Eml1 knockdown mimicked the HeCo progenitor phenotype and reexpression rescued it. We further found EML1 to be mutated in ribbon-like heterotopia in humans. Our data link abnormal spindle orientations, ectopic progenitors and severe heterotopia in mouse and human.

Introduction: In young children presenting drug-resistant epilepsy, the number of approved antiepileptic drugs is limited. Levetiracetam (LEV) is one of the most recent antiepileptic drugs (AED) introduced on the market and data on its effectiveness and tolerance in children are scarce., Patients and Methods: The objective of this retrospective study was to report our experience with the use of levetiracetam as an adjuvant therapy in a population of 42 children presenting a drug-resistant epilepsy. The study was conducted over a 5-year-period (from 1 January 2004 to 30 June 2007)., Results: The patients' mean age was 10.8 years (range, 2.1-19 years). The mean duration of epilepsy was 6.6 years (range, 1.5-19 years). After the administration of LEV, 10 patients (23.8%) became seizure-free and 16 (38.1%) had more than 50% seizure reduction. A reduction of less than 50% was observed in 13 patients (31%). Three patients (7.1%) presented an increase in seizure frequency. The effectiveness of LEV was similar in partial and generalized epilepsy. LEV was well tolerated by these patients. The main adverse effects were anorexia, asthenia, and behavioral disorders, and drowsiness was encountered in 17% of the patients. All persistent adverse events were noted. In children under 4 years of age, LEV was particularly well tolerated., Conclusion: This study confirms the effectiveness and tolerance of LEV used as an adjuvant therapy in children presenting drug-resistant epilepsy, particularly in the very young ones., (Copyright © 2011 Elsevier Masson SAS. All rights reserved.)

Among the epileptic syndromes occurring during infancy, which are mostly non-idiopathic and associated with a poor prognosis, benign infantile convulsions are characterized by a favourable evolution. This work aims to analyse and compare the clinical, EEG and outcome characteristics of familial benign infantile convulsions (FBIC) and non-familial benign infantile convulsions (NFBIC). This is a retrospective study, conducted between 1988 and 2008, in 40 infants who presented benign infantile seizures during the two first years of life. All of them had no personal history, normal psychomotor development, normal neurological examinations, no abnormalities on biological and radiological investigations and a favourable outcome. In 14 cases, there was a familial history of familial benign infantile convulsions. However, among the 26 cases with non-familial benign infantile convulsions, 11 children had a familial history of other epileptic syndrome. That may suggest a genetic familial susceptibility. In the two groups, the clinical features and the electroencephalography were similar. The seizures had short duration and occurred most often in clusters. Twenty-nine children had secondarily generalized partial seizures and 11 infants had generalized seizures but a focal onset cannot be excluded. The antiepileptic drugs allowed rapid resolution of seizures. One child necessitated a prolonged antiepileptic treatment. In the other cases, seizures cured in the first year without recurrence of seizures after treatment discontinuation. The evolution was characterised in five children by a later occurrence of dystonia. This subgroup was described as infantile convulsion and choreoathetosis syndrome (ICCA). Benign infantile convulsions are probably an underestimated epileptic syndrome. The diagnosis is relatively easy in the familial forms with dominant autosomal transmission. In contrast, in sporadic forms, the diagnosis can be confirmed only by the evolution. The good prognosis must be tempered by the subsequent onset of dystonia consisted in the ICCA syndrome and justifies a prolonged follow-up., (Copyright © 2011 Elsevier Masson SAS. All rights reserved.)

Ischemic stroke is rare in children, most of which occur in the supratentorial brain, and infratentorial infarcts are very rare. Some clinical manifestations may be similar but others such as ataxia and cranial nerve palsy are more specific. Vertebral artery dissection is the most frequent cause of stroke in the vertebrobasilar territory, but the cause most often remains unknown in children. We report three cases of infratentorial stroke in children. The first observation concerns a 4-year-old boy brought to medical attention because left hemicorporal motor deficit associated with ataxia following a minor cranial traumatism. While computed tomography (CT) of the brain was normal, magnetic resonance imaging (MRI) revealed an area of signal alteration on the diffusion-weighted image within the right protuberance. The second observation is a 15-year-old girl who developed sudden-onset ataxia. The CT scan and MRI of the brain revealed an acute bilateral cerebellar stroke. MRI angiography showed an anatomical variant of the left vertebral artery that did not participate in the Willis polygon. In these two observations, no other abnormalities were detected except they were homozygotous for MTHFR mutation in the first observation and minor alpha-thalassemia for the second one. The outcome in these two children was good without sequelae after a 6-month follow-up. The third observation is a 6-year-old girl who suddenly exhibited cephalalgia, ataxia, and left visual impairment. The brain MRI revealed left occipital and cerebellar strokes due to vertebral artery dissection. The authors recommend the systematic search for vertebral artery dissection in cases of infratentorial stroke., (Copyright © 2011 Elsevier Masson SAS. All rights reserved.)

Inattention and hyperactivity/impulsivity are the core symptoms of Attention Deficit/Hyperactivity Disorder (ADHD). Slowness, although less known, has been also recently reported in children with ADHD and may contribute to their learning difficulties. Slow response time and greater response time variability have been highlighted by several computerized tasks. The goal of the present work was to evaluate the age-related response time in ADHD children and in a group of matched control children during an attentional capture paradigm. The study population included 75 children with ADHD (aged between 6 and 13) and 75 age- and gender-matched typical developing children (Control group). The children with ADHD made more errors than children on the control group. The response times and the response time variability decreased with age in both groups and were significantly greater in ADHD than in controls. The distractor effect was similar in both groups. The maturation of response times and response time variability with age is quite similar in children with ADHD and typical developing children but whatever the age-class, children with ADHD were slower and exhibited greater response time variability than control children that could explain the variation during day-time of attention capacities in ADHD., (Copyright © 2010. Published by Elsevier Ltd.)