关键词： Autism Spectrum Disorder   Neurologic music therapy   Coordination   Elastic displays   Technological intervention  

摘要： Aim: To evaluate the efficacy of Neurologic Music Therapy (NMT) using a traditional and a technological intervention (elastic touch-display) in improving the coordination of children with Autism Spectrum Disorder (ASD), as a primary outcome, and the timing and strength control of their movements as secondary outcomes. Methods: Twenty-two children with ASD completed 8 NMT sessions, as a part of a 2-month intervention. Participants were randomly assigned to either use an elastic touch-display (experimental group) or tambourines (control group). We conducted pre- and post- assessment evaluations, including the Developmental Coordination Disorder Questionnaire (DCDQ) and motor assessments related to the control of strength and timing of movements. Outcomes and results: All participants improved their coordination, according to the DCDQ scores, and exhibited better control of their movements according to the strength and timing assessments after the intervention. Participants who used the elastic touch-display scored higher on the DCDQ. Conclusions and implications: NMT is an efficacious treatment to improve the coordination skills of children with ASD. Elastic touch-displays provide more benefits than the use of tambourines.

关键词： Fundoplication   Pediatric   GORD   GERD  

摘要： Background and objective: Aspiration pneumonia is a common and serious complication to gastroesophageal reflux disease (GERD) among neurologically impaired children. Medication of GERD does not effectively prevent aspiration pneumonia, and whether antireflux surgery with fundoplication is better in this respect is uncertain. The objective was to determine whether fundoplication prevents aspiration pneumonia among children with neurological impairment and GERD. Methods: This was a population-based cohort study from Denmark, Finland, Norway and Sweden, consisting of neurologically impaired children with GERD who underwent fundoplication. The risk of aspiration pneumonia before fundoplication (preoperative person-time) was compared with the risk after surgery (postoperative person-time). Multivariable Cox regression provided hazard ratios (HRs) with 95% confidence intervals (CIs). Except for confounding adjusted for by means of the "crossover like" design, the HRs were adjusted for age, sex, year of entry and respiratory diseases. Results: Among 578 patients (median age 3.5 years), the preoperative person-time was 956 years and the postoperative person-time was 3324 years. Fundoplication was associated with 56% decreased overall HR of aspiration pneumonia (HR 0.44, 95% CI 0.27-0.72), and the HRs decreased over time after surgery. The risk of other types of pneumonia than aspiration pneumonia was not clearly decreased after fundoplication (HR 0.79, 95% CI 0.59-1.08). The 30-day mortality rate was 0.7% and the complication rate was 3.6%. Conclusions: Antireflux surgery decreases, but does not eliminate, the risk of aspiration pneumonia among neurologically impaired children with GERD. Fundoplication may be a treatment option when aspiration pneumonia is a recurrent problem in these children. (c) 2020 Elsevier Inc. All rights reserved.

关键词： COVID-19   SARS-CoV-2   Hypoxemia   Neural Invasion   Central Nervous System  

摘要： SARS-CoV-2 mainly invades respiratory epithelial cells by adhesion to angiotensin-converting enzyme 2 (ACE-2) and thus, infected patients may develop mild to severe inflammatory responses and acute lung injury. Afferent impulses that result from the stimulation of pulmonary mechano-chemoreceptors, peripheral and central chemoreceptors by inflammatory cytokines are conducted to the brainstem. Integration and processing of these input signals occur within the central nervous system, especially in the limbic system and sensorimotor cortex, and importantly feedback regulation exists between O-2, CO2, and blood pH. Despite the intensity of hypoxemia in COVID-19, the intensity of dyspnea sensation is inappropriate to the degree of hypoxemia in some patients (silent hypoxemia). We hypothesize that SARS-CoV-2 may cause neuronal damage in the corticolimbic network and subsequently alter the perception of dyspnea and the control of respiration. SARS-CoV-2 neuronal infection may change the secretion of numerous endogenous neuropeptides or neurotransmitters that distribute through large areas of the nervous system to produce cellular and perceptual effects. SARS-CoV-2 mainly enter to CNS via direct (neuronal and hematologic route) and indirect route. We theorize that SARS-CoV-2 infection-induced neuronal cell damage and may change the balance of endogenous neuropeptides or neurotransmitters that distribute through large areas of the nervous system to produce cellular and perceptual effects. Thus, SARS-CoV-2-associated neuronal damage may influence the control of respiration by interacting in neummodulation. This would open up possible lines of study for the progress in the central mechanism of COVID-19-induced hypoxia. Future research is desirable to confirm or disprove such a hypothesis.

关键词： COVID-19   Neurological manifestations   Cerebrovascular disease   Stroke   Cytokine storm   Stress  

摘要： Though the COVID-19 pandemic primarily affects pulmonary and cardiorenal functions, many healthcare and its allied groups reported neurological involvement of SARS-CoV-2 in combination with either pre-existing metabolic abnormalities, medical conditions, infections or even chronic to acute inflammatory episodes of the nervous system. The present review provides a fair outlook of the published literature and also the case reports with an emphasis on plausible mechanisms involved in neurological complications of the central and peripheral nervous systems. Awareness on the neuropsychiatric manifestations being discussed in this article should ideally help the medical community in early identification and effective management of potentially life-threatening neurological diseases.

关键词： Pediatric   Neurological   Emergencies   Neuropediatrician  

摘要： Introduction and objective: Information on the spectrum and frequencies of pediatric neurological presentations to emergency departments is vital to optimize quality of care. The objective of this study was to determine the incidence of pediatric neurological emergencies and to analyze the impact of specialist neurological advice in emergency care. Patients and methods: We performed a retrospective descriptive study of pediatric emergency room visits for neurological reasons at the Timone University Hospital in Marseille over a 6-month period (from October 2017 to March 2018). Results: Of the 14,572 emergencies analyzed, 370 (2.5%) were for neurological conditions. These were most commonly seizures (56.7% of cases), headache (19.7%), and motor or sensory deficits (5.1%). The most frequent diagnosis was epileptic seizure (30%), followed by febrile seizure (26.1%) and migraine (15%). Around two in every five patients (37.6%) required hospitalization. Neurological emergencies requiring critical care occurred at a frequency of about one per month (1.6% of cases). A pediatric neurologist was consulted in 37.3% of cases, resulting in a modification of the diagnosis or treatment in 66% of these referrals. Conclusion: The results of this study suggest that a formal referral system between the emergency department and pediatric neurologists would be useful. (C) 2020 Published by Elsevier Masson SAS on behalf of French Society of Pediatrics.

关键词： incontinence   lower urinary tract symptoms   neurology   neurourology   overactive bladder   overactive bladder  

摘要： Aim Lower urinary tract symptoms (LUTS) are a common urological referral, which sometimes can have a neurological basis in a patient with no formally diagnosed neurological disease ("occult neurology"). Early identification and specialist input is needed to avoid bad LUTS outcomes, and to initiate suitable neurological management. Methods The International Continence Society established a neurological working group to consider: Which neurological conditions may include LUTS as an early feature? What diagnostic evaluations should be undertaken in the LUTS clinic? A shortlist of conditions was drawn up by expert consensus and discussed at the annual congress of the International Neurourology Society. A multidisciplinary working group then generated recommendations for identifying clinical features and management. Results The relevant conditions are multiple sclerosis, multiple system atrophy, normal pressure hydrocephalus, early dementia, Parkinsonian syndromes (including early Parkinson's Disease and Multiple System Atrophy) and spinal cord disorders (including spina bifida occulta with tethered cord, and spinal stenosis). In LUTS clinics, the need is to identify additional atypical features;new onset severe LUTS (excluding infection), unusual aspects (eg, enuresis without chronic retention) or "suspicious" symptoms (eg, numbness, weakness, speech disturbance, gait disturbance, memory loss/cognitive impairment, and autonomic symptoms). Where occult neurology is suspected, healthcare professionals need to undertake early appropriate referral;central nervous system imaging booked from LUTS clinic is not recommended. Conclusions Occult neurology is an uncommon underlying cause of LUTS, but it is essential to intervene promptly if suspected, and to establish suitable management pathways.

关键词： COVID-19   muscle   neurological disorders   precision medicine   SARS-CoV-2  

摘要： Background and purpose The objective of this study was to assess the neurological manifestations in a series of consecutive severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2)-positive patients, comparing their frequency with a population hospitalized in the same period for flu/respiratory symptoms, finally not related to SARS-CoV-2. Methods Patients with flu/respiratory symptoms admitted to Fondazione Policlinico Gemelli hospital from 14 March 2020 to 20 April 2020 were retrospectively enrolled. The frequency of neurological manifestations of patients with SARS-CoV-2 infection was compared with a control group. Results In all, 213 patients were found to be positive for SARS-CoV-2, after reverse transcriptase polymerase chain reaction on nasal or throat swabs, whilst 218 patients were found to be negative and were used as a control group. Regarding central nervous system manifestations, in SARS-CoV-2-positive patients a higher frequency of headache, hyposmia and encephalopathy always related to systemic conditions (fever or hypoxia) was observed. Furthermore, muscular involvement was more frequent in SARS-CoV-2 infection. Conclusions Patients with COVID-19 commonly have neurological manifestations but only hyposmia and muscle involvement seem more frequent compared with other flu diseases.

关键词： brain atrophy   infantile spasms   Pol I transcription initiation complex proteins   TATA-binding protein associated factors  

摘要： TATA-box binding protein associated factor, RNA polymerase I subunit C (TAF1C) is a component of selectivity factor 1 belonging to RNA polymerase I (Pol I) transcription machinery. We report two unrelated patients with homozygousTAF1Cmissense variants and an early onset neurological phenotype with severe global developmental delay. Clinical features included lack of speech and ambulation and epilepsy. MRI of the brain demonstrated widespread cerebral atrophy and frontal periventricular white matter hyperintensity. The phenotype resembled that of a previously described variant ofUBTF, which encodes another transcription factor of Pol ***1Cvariants were located in two conserved amino acid positions and were predicted to be deleterious. In patient-derived fibroblasts,TAF1CmRNA and protein expression levels were substantially reduced compared with healthy controls. We propose that the variants impairingTAF1Cexpression are likely pathogenic and relate to a novel neurological disease. This study expands the disease spectrum related to Pol I transcription machinery, associating theTAF1Cmissense variants with a severe neurological phenotype for the first time.

关键词： Tongue pressure   Diet type   Video fluoroscopic swallowing study   Neurological disorders   Neuromuscular disorders  

摘要： Introduction: Patients with neurological and neuromuscular disorders (NNMD) frequently experience swallowing disorders that increase aspiration pneumonia risk and therefore require specialized diets or tube feeding. Diet type level usually is assessed by video fluoroscopic swallowing study (VFSS). To identify a simpler assessment method, we examined the association between diet type (based on the Functional Oral Intake Scale [FOIS]) diet type and maximum tongue pressure (MTP). Methods: From 2011-2020, FOIS diet type level and MTP were assessed in a sample of 927 patients. Of these patients, 186 had Parkinson's disease (PD), 69 had Parkinson-related disease (PRD), 61 had multiple system atrophy (MSA), 42 had spinocerebellar degeneration (SCD), 147 had amyotrophic lateral sclerosis (ALS), 180 had myotonic dystrophy type 1 (DM1), and 242 had Duchenne muscular dystrophy (DMD). VFSS was conducted while patients swallowed water and foods containing barium. MTP measurements were collected the same day. Participants' diet type level was adjusted based on the VFSS, with some participants requiring multiple examinations. Relationships between diet type level and MTP were tested using univariate and Spearman rank correlation analyses. Results: Mean MTP for the entire NNMD group (25.5 +/- 13.1 kPa) was lower than that of healthy elderly individuals, as determined in previous reports. The highest MTP was found in the MSA group (32.2 +/- 15.7 kPa) and the lowest in the DM1 group (19.1 +/- 9.0 kPa). Diet type level was highest in the MSA group (5.8 +/- 1.4) and lowest in the DMD group (5.2 +/- 1.7). A significant correlation was observed between diet type level and MTP (R = 0.384, p < 0.001). The optimum MTP cutoff values-detected using ROC curves to predict a requirement to change to a dysphagia diet-was highest in the DMD group (29.0 kPa) and lowest in the ALS group (12.3 kPa). Conclusions: The decision to change NNMD patients to a dysphagia diet can be made based on MTP. Modify