Developmental pathologies of the cerebellum, in particular congenital cerebellar ataxias, although rare, are the cause of often severe motor and cognitive difficulties for which there are few methods of remediation at present. Dance is a motivating and transgenerational artistic activity that involves the synchronization of the whole body with music and/or partners. In this chapter, we will begin with a brief introduction to why dance, due to its characteristics, offers particularly interesting perspectives from a therapeutic point of view. Before discussing the use of dance in the rehabilitation of neurological pathologies, we will address the particular context of congenital cerebellar ataxias, recalling the role of the cerebellum and the consequences of its impairment on the quality of life and social integration of patients and families. We will review the current possibilities of rehabilitation of children with congenital ataxia and we will highlight the absence of remedial techniques focusing on rhythm despite the rhythmic deficits induced by cerebellar damage and the important role of temporal and sensory-motor capacities during development. Finally, we will present the preliminary results of a first study conducted in our laboratory, in collaboration with the National Reference Center for Cerebellar Disorders of the University Hospital Center of Lille, which studied the benefits on motor and cognitive functions of a two-month intervention based on dance and rhythm in children with congenital cerebellar ataxia.

We present the case of a 10-month-old girl with Guillain-Barré syndrome who was diagnosed in a late stage of the disease.The initial presentation was atypical both clinically (severe back pain and meningismus) and radiologically (diffuse leptomeningeal enhancement spreading from the posterior fossa to the cauda equina).This led to a strong suspicion of carcinomatous meningitis or tuberculous spinal arachnoiditis.Considering absence of deep tendon reflexes, the patient was finally diagnosed with Guillain-Barré syndrome associated with cytomegalovirus infection.Her condition improved following intravenous immunoglobulin treatment.To our knowledge, whereas enhancement of the cauda equine roots represents the neuroradiological hallmark of Guillain-Barré syndrome, such a diffuse leptomeningeal enhancement has never been reported in association with Guillain-Barré syndrome.Paediatricians should consider Guillain-Barré syndrome in their differential diagnosis not only when faced with a child who has back pain and meningismus, but also in case of diffuse spinal arachnoiditis.

Introduction Necrotizing autoimmune myopathies (NAMs) are acquired myopathies with myofibrillar necrosis and weak or absent inflammatory component, sometimes associated with anti-signal recognition particle (SRP) or 3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGCR) antibodies. Observation The patient, a girl now aged 20 years, was first assessed at the age of 5 years for abnormal gait revealing frank pelvic deficit. Creatine kinase (CK) levels were as high as 7,500 IU/L. Subsequent muscle biopsy showed some necrosis, fiber regeneration, and fibrosis consistent with muscular dystrophy (MD). Protein immunohistochemistry was normal. The disease course was progressive until wheelchair use at the age of 9 years. At 12 years of age, a second muscle biopsy found an advanced MD with some perivascular inflammatory mononuclear cells. All molecular analyses done through 14 years of follow-up were negative till anti-HMGCR antibodies were detected at a significant amount when she was 19 years old. Discussion NAMs begin at a pediatric age and may have a chronic course mimicking MDs. Muscular biopsy can be misleading with a predominantly dystrophic pattern without inflammation. Conclusion This observation should prompt the assessment of NAMs in all MDs, even pediatric, without molecular solutions.

The objective was to study the prevalence and characterization of pediatric migraine triggers and to compare results to this retrospective study. A total of 101 pediatric patients with ICHD-II migraine with and/or without aura were instructed to prospectively complete a diary dealing with attacks triggers for a 3-month period. Each subject reported at least 1 trigger (range: 1-14) with a total number of 532 attacks and a median per subject of 3. Lack of sleep (51.4%), stress (44.6%), warm climate (41.9%), noise (32.4%), and excitation (29.7%) were the most frequently reported. The delay between trigger exposure and attack onset was between 0 and 3 hours in 67.6% of attacks. This prospective study confirmed the findings of the authors’ previous study, with the exception that number of triggers was smaller, probably due to recall bias. The 4 most frequent triggers (lack of sleep, stress, hot weather, and noise) were identical in both studies.

A high comorbidity between reading and arithmetic disabilities has already been reported. The present study aims at identifying more precisely patterns of arithmetic performance in children with developmental dyslexia, defined with severe and specific criteria. By means of a standardized test of achievement in mathematics (Calculation and Number Processing Assessment Battery for Children; von Aster & Dellatolas, 2006), we analyzed the arithmetic abilities of 47 French children with dyslexia attending 3rd, 4th, and 5th grade. Of them, 40% displayed arithmetic deficits, mostly with regard to number transcoding and mental calculation. Their individual profiles of performance accounted for varying strengths and weaknesses in arithmetic abilities. Our findings showed the pathway for the development of arithmetic abilities in children with dyslexia is not unique. Our study contrasts with the hypotheses suggesting the mutual exclusiveness of the phonological representation deficit and the core number module deficit.

Les traitements pharmacologiques symptomatiques représentent un appoint utile dans la prise en charge des maladies neuromusculaires, qu’ils soient ciblés sur un processus physiopathologique corolaire de la maladie (fibrose musculaire, oxydation), sur un symptôme physique tel que la myotonie, la douleur, ou sur les troubles cognitifs liés à l’atteinte centrale associée (dystrophinopathies, dystrophie myotonique de Steinert). Ils permettent d’améliorer l’espérance et la qualité de vie, en attendant les progrès des thérapies curatives émergentes.

Background No study dedicated to postdrome symptoms of migraine attacks is available in children and adolescents. Objective To study the resolution phase of the migraine attack in children and adolescents. Methods 100 children and adolescents with ICHD-3 beta migraine without and/or with typical aura were included. Each patient, and one of her/his parents, were interviewed by phone about the postdrome phrase of their last six months’ migraine attacks. They were specifically instructed to distinguish symptoms that had begun before and went on after migraine headache cessation (referred to as persistent symptoms), and symptoms whose onset was strictly after headache cessation (referred to as true postdromes). Results 91% of patients reported persistent symptoms, with a mean of 2.9 and a median of 2; asthenia, cognitive difficulties, pallor, cognitive slowing, anorexia, somnolence, and nausea were the most frequently reported. They lasted less than 12 h in 71% of patients. True postdromes were reported by 82% of patients, with a mean of 2.6 and a median of 2; thirst, somnolence, visual disturbances, food craving, paraesthesias, and ocular pain being the most frequently reported. They lasted less than 12 h in 94% of patients. Conclusions This study showed that children and adolescents with migraine had both frequent persistent symptoms and true postdromes. Both were notably different from those reported in adults.

Objective:Rett Syndrome (RTT) is a severe neurodevelopmental condition with breathing disorders, affecting around one in 10,000 female births. Desipramine, a noradrenaline reuptake inhibitor, reduced the number of apneas in Mecp2-deficient mice, a model of RTT. We planned a phase 2 trial to test its efficacy and its safety on breathing patterns in 36 girls with RTT.Methods:The trial was a 6-month, multicenter, randomized, double-blind, placebo-controlled study registered with ClinicalTrials.gov, number NCT00990691. Girls diagnosed according to clinical examination and confirmed by genotyping were randomly assigned in a 1:1:1 ratio to receive 2-3 mg/kg Desipramine per day (high Desipramine), 1-2 mg/kg Desipramine per day (low Desipramine), or a placebo. The primary outcome was the change of apnea hypopnea index (AHI), defined by the number of apnea and hypopnea events per hour, assessed at 6 months from baseline. Intention-to-treat analysis was applied.Results:The median change in AHI from baseline to 6 months was -31 (IQR: -37 to -11) for the high Desipramine, -17.5 (IQR: -31 to 13) for the low Desipramine, and -13 (IQR:-31 to 0) for the placebo group. We did not find any significant difference in these changes between the groups (P = 0.781). A significant inverse correlation between Desipramine plasma concentration and AHI (r = -0.44; P = 0.0002) was underlined.Interpretation:This first clinical trial of desipramine did not show clinical efficacy. Although required further studies, the significant correlation between Desipramine concentrations and improvement of AHI provided additional and relevant reasons to test the noradrenergic pathway in RTT.

The study assessed the 5-year follow-up outcome and possible prognostic factors of migraine subtypes with onset in childhood or adolescence. A total of 343 patients meeting the International Classification of Headache Disorders (ICHD)-II criteria for migraine without aura (MO), migraine with aura (MA), or both MO+MA (ie, 1.1, 1.2) were contacted by phone and underwent structured follow-up headache interviews. Of the original sample patients, 22.7% were headache-free at follow-up, 14.1% had a transformed headache diagnosis (tension-type headache: 8.2%, chronic daily headache: 5.8%), and 63.3% still had migraine fulfilling the criteria for ICHD-II 1.1. or 1.2, but those who were still migraineurs at follow-up were older at baseline (respectively 12.93, 9.99, and 11.02 years for MO, MA and MO+MA, P = .0005). The probability of having the same migraine subtype diagnosis at baseline and at 5-year follow-up was 55.2%, 95.1%, and 31.1% for ICHD-II 1.1, 1.2, and both 1.1 and 1.2, respectively.

Objective: The objective of this study is to retrospectively describe the pathway toward ADHD diagnosis and treatment, and identify potential areas for improvement. Method: Parent-reported questionnaires were collected by a national sample of ADHD specialists. Results: In total, 473 complete questionnaires were analyzed. Initial onset of ADHD symptoms was reported at a mean age of 4.45 years. Mean age at diagnosis was 8.07 years, and half of the families had seen at least three health care professionals previously. Psychiatrists were most commonly consulted. A “combined” (89% boys) and inattentive (49% boys) profile was identified. Diagnosis was made 1 year later for the latter group. Two thirds of patients received pharmacological treatment. The delay in diagnosis was identified as the main source of concern for caregivers. Conclusion: The 4-year delay in diagnosis may represent a loss of opportunity. Training health care professionals in the core symptoms of ADHD may help reduce disparities and improve patient trajectory.

Objectives:The Analgesia Nociception Index (ANI), based on heart rate (HR) variability analysis, is known to decrease after a painful stimulus during surgery under general anesthesia in adults. It is measured continuously and noninvasively. We studied ANI response to procedural pain in a pediatric population and ANI measurement’s feasibility in this context, across age. Methods:A prospective, noninterventional pilot study was performed. All children (between 6 mo and under 18 y) undergoing muscle biopsy conducted under analgesia and light sedation were included. Medical staff was blind to the ANI monitor. HR and ANI were recorded and analyzed during 2 periods: T1 before incision and T2 after incision. Pain was assessed by the FLACC scale at T2. We observed ANI and HR variations after incision. ANI, HR, and FLACC were compared between children younger or older than 6 years. Enrollment or technical issues were reported. Results:A total of 26 children were included (median age, 6 y; ranging from 6 mo to 16 y; 16 male). ANI decreased from T1 to T2. HR, ANI, or FLACC values were not different in children younger or older than 6 years. No parents or children refused to take part in the study. No technical issues was reported. Discussion:In this pilot study, ANI measurement seems relevant in pediatric procedural pain, across age. Further studies are needed to confirm these results.

Recently an early onset lethal encephalopathy has been described in relation to mutations of NFU1, one of the genes involved in iron-sulfur cluster metabolism. We report a new NFU1 mutated patient presenting with a milder phenotype characterized by a later onset, a slowly progressive spastic paraparesis with relapsing-remitting episodes, mild cognitive impairment and a long survival. The early white matter abnormalities observed on MRI was combined with a mixed sensory-motor neuropathy in the third decade. Our case clearly suggests the importance of considering NFU1 mutation in slowly evolving leukoencephalopathy with high glycine concentration.

Proximal region of chromosome 15 long arm is rich in duplicons that, define five breakpoints (BP) for 15q rearrangements. 15q11.2 microdeletion between BP1 and BP2 has been previously associated with developmental delay and atypical psychological patterns. This region contains four highly-conserved and non-imprinted genes: NIPA1, NIPA2, CYFIP1, TUBGCP5. Our goal was to investigate the phenotypes associated with this microdeletion in a cohort of 52 patients. This copy number variation (CNV) was prevalent in 0.8% patients presenting with developmental delay, psychological pattern issues and/or multiple congenital malformations. This was studied by array-CGH at six different French Genetic laboratories. We collected data from 52 unrelated patients (including 3 foetuses) after excluding patients with an associated genetic alteration (known CNV, aneuploidy or known monogenic disease). Out of 52 patients, mild or moderate developmental delay was observed in 68.3%, 85.4% had speech impairment and 63.4% had psychological issues such as Attention Deficit and Hyperactivity Disorder, Autistic Spectrum Disorder or Obsessive-Compulsive Disorder. Seizures were noted in 18.7% patients and associated congenital heart disease in 17.3%. Parents were analysed for abnormalities in the region in 65.4% families. Amongst these families, 'de novo' microdeletions were observed in 18.8% and 81.2% were inherited from one of the parents. Incomplete penetrance and variable expressivity were observed amongst the patients. Our results support the hypothesis that 15q11.2 (BP1-BP2) microdeletion is associated with developmental delay, abnormal behaviour, generalized epilepsy and congenital heart disease. The later feature has been rarely described. Incomplete penetrance and variability of expression demands further assessment and studies.

The 15q13.3 heterozygous microdeletion is a fairly common microdeletion syndrome with marked clinical variability and incomplete penetrance. The average size of the deletion, which comprises six genes including CHRNA7, is 1.5 Mb. CHRNA7 has been identified as the gene responsible for the neurological phenotype in this microdeletion syndrome. Only seven patients with a homozygous microdeletion that includes at least CHRNA7, and is inherited from both parents have been described in the literature. The aim of this study was to further describe the distinctive eye manifestations from the analysis in the three French patients diagnosed with the classical 1.5 Mb homozygous microdeletion. Patients' ages ranged from 30 months to 9 years, and included one sib pair. They all displayed a remarkably severe identifiable clinical phenotype that included congenital blindness and convulsive encephalopathy with inconstant abnormal movements. The ophthalmological examination revealed a lack of eye tracking, optic nerve pallor, an immature response with increased latencies with no response to the checkerboard stimulations at the visual evoked potential examination, and a distinctive retina dystrophy with a negative electroretinogram in which the “b” wave was smaller than the “a” wave after a dark adapted pupil and bright flash in all patients. Clear genotype–phenotype correlations emerged, showing that this eye phenotype was secondary to homozygous deletion of TRPM1, the gene responsible for autosomal recessive congenital stationary night blindness. The main differential diagnosis is ceroid lipofuscinosis. © 2014 Wiley Periodicals, Inc.

A 15-year-old boy developed Epstein-Barr virus (EBV) encephalitis, a rare complication of infectious mononucleosis. The severe clinical picture and the marked neuroimaging changes were in contrast with mild cerebrospinal fluid abnormalities: leukocyte count was normal and protein level was only slightly elevated. EBV DNA was detected in cerebrospinal fluid by polymerase chain reaction.

Letter to the Editor Medication Overuse Headache in School-Aged Children: More Common Than Expected? Jean-Christophe Cuvellier MD, Jean-Christophe Cuvellier MD Division of Pediatric Neurology, Department of Pediatrics, Lille Faculty of Medicine and Children's Hospital, Lille, FranceSearch for more papers by this authorHala Nasser MD, Hala Nasser MD Division of Pediatric Neurology, Department of Pediatrics, Lille Faculty of Medicine and Children's Hospital, Lille, FranceSearch for more papers by this authorLouis Vallée MD, PhD, Louis Vallée MD, PhD Division of Pediatric Neurology, Department of Pediatrics, Lille Faculty of Medicine and Children's Hospital, Lille, FranceSearch for more papers by this author Jean-Christophe Cuvellier MD, Jean-Christophe Cuvellier MD Division of Pediatric Neurology, Department of Pediatrics, Lille Faculty of Medicine and Children's Hospital, Lille, FranceSearch for more papers by this authorHala Nasser MD, Hala Nasser MD Division of Pediatric Neurology, Department of Pediatrics, Lille Faculty of Medicine and Children's Hospital, Lille, FranceSearch for more papers by this authorLouis Vallée MD, PhD, Louis Vallée MD, PhD Division of Pediatric Neurology, Department of Pediatrics, Lille Faculty of Medicine and Children's Hospital, Lille, FranceSearch for more papers by this author First published: 22 February 2013 https://doi.org/10.1111/j.1526-4610.2012.02291.xCitations: 5 Conflict of Interest: The authors report no conflict of interest. Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat No abstract is available for this article. References 1 Piazza F, Chiappedi M, Maffioletti E, Galli F, Balottin U. Medication overuse headache in school-aged children: More common than expected? Headache. 2012 Jul 23. doi: 10.1111/j.1526-4610.2012.02221.x. [Epub ahead of print] 2 Cuvellier JC, Couttenier F, Joriot-Chekaf S, Vallée L. Chronic daily headache in French children and adolescents. Pediatr Neurol. 2008; 38: 93-98. 3 Seshia SS, Wang SJ, Abu-Arafeh I, et al. Chronic daily headache in children and adolescents: A multi-faceted syndrome. Can J Neurol Sci. 2010; 37: 769-778. 4 Cuvellier JC, Fily A, Joriot S, Cuisset JM, French VL. General practitioners’ management of children's headaches. Headache. 2007; 47: 1282-1292. 5 Cuvellier JC, Mars A, Carvalho S, Auvin S. Study on management of pediatric migraine by general practitioners in north of France. J Headache Pain. 2009; 10: 167-175. 6 Cuvellier JC, Donnet A, Guégan-Massardier E, Nachit-Ouinekh F, Parain D, Vallée L. Treatment of primary headache in children: A multicenter hospital-based study in France. J Headache Pain. 2009; 10: 447-453. Citing Literature Volume53, Issue2February 2013Pages 387-388 This article also appears in:Medication Overuse ReferencesRelatedInformation

Interstitial 6q deletions can cause a variable phenotype depending on the size and location of the deletion. 6q14 deletions have been associated with intellectual disability and a distinct pattern of minor anomalies, including upslanted palpebral fissures with epicanthal folds, a short nose with broad nasal tip, anteverted nares, long philtrum, and thin upper lip. In this study we describe two patients with overlapping 6q14 deletions presenting with developmental delay and characteristic dysmorphism. Molecular karyotyping using array CGH analysis revealed a de novo 8.9 Mb deletion at 6q14.1-q14.3 and a de novo 11.3 Mb deletion at 6q12.1-6q14.1, respectively. We provide a review of the clinical features of twelve other patients with 6q14 deletions detected by array CGH analysis. By assessing all reported data we could not identify a single common region of deletion. Possible candidate genes in 6q14 for intellectual disability might be FILIP1, MYO6, HTR1B, and SNX14.

AIM:To investigate the psychiatric and cognitive phenotype in young individuals with the childhood form of myotonic dystrophy type 1 (DM1). METHOD:Twenty-eight individuals (15 females, 13 males) with childhood DM1 (mean age 17y, SD 4.6, range 7-24y) were assessed using standardized instruments and cognitive testing of general intelligence, visual attention, and visual-spatial construction abilities. RESULTS:Nineteen patients had repeated a school grade. The mean (SD) Full-scale IQ was 73.6 (17.5) and mean Verbal IQ was significantly higher than the mean Performance IQ: 80.2 (19.22) versus 72.95 (15.58), p=0.01. Fifteen patients had one or more diagnoses on the DSM-IV axis 1, including internalizing disorders (phobia, n=7; mood disorder, n=6; other anxiety disorders, n=5) and attention-deficit-hyperactivity disorder, inattentive subtype (n=8). Twelve out of 22 patients had alexithymia (inability to express feelings with words and to recognize and share emotional states). Cognitive testing found severe impairments in visual attention and visual-spatial construction abilities in four out of 18, and 14 out of 24 patients respectively. No diagnosis was correlated with the transmitting parent's sex or with cytosine-thymine-guanine (CTG) repeat numbers. Patients with severe visual-spatial construction disabilities had a significantly longer CTG expansion size than those with normal visual-spatial abilities (p=0.04). INTERPRETATION:Children and adolescents with childhood DM1 have frequent diagnoses on DSM-IV axis 1, with internalizing disorders being the most common type of disorder. They also have borderline low intelligence and frequent impairments in attention and visual-spatial construction abilities.

Neuropsychological consequences of epilepsy will be function of the specific anamnesis of the child, characteristics of epilepsy syndromes, and treatment. The effects of recurrent seizures, iatrogenic effects of medications, and school adaptation are reviewed. The neurodevelopmental origins of comorbidities are detailed, how they develop over time. Despite the good prognosis and the remission of seizures before adulthood with normal neurological and intellectual development, some subtle cognitive and behavioural deficits in children with benign epilepsy seem to occur. Cognition can be impaired leading to long-term intellectual disabilities. One factor that could potentially cause cognitive deficits is the frequent seizures that characterize intractable epilepsy.

The prevalence and characterization of migraine triggers have not been rigorously studied in children and adolescents. Using a questionnaire, we retrospectively studied the prevalence of 15 predefined trigger factors in a clinic-based population. In 102 children and adolescents fulfilling the Second Edition of The International Headache Classification criteria for paediatric migraine, at least one migraine trigger was reported by the patient and/or was the parents' interpretation in 100% of patients. The mean number of migraine triggers reported per subject was 7. Mean time elapsed between exposure to a trigger factor and attack onset was comprised between 0 and 3 h in 88 patients (86%). The most common individual trigger was stress (75.5% of patients), followed by lack of sleep (69.6%), warm climate (68.6%) and video games (64.7%). Stress was also the most frequently reported migraine trigger always associated with attacks (24.5%). In conclusion, trigger factors were frequently reported by children and adolescents with migraine and stress was the most frequent.