Revista de neurologia最新文献

Introduction: X-linked intellectual developmental disorder is clinically and genetically heterogeneous. The ubiquitin specific peptidase 27 X-linked gene (USP27X) has been associated with X-linked intellectual developmental disorder, and only 17 affected males have been described in the literature to date.

Case report: A 6-year-old boy was assessed due to intellectual developmental disability, language delay, behavioural disorder, microcephaly and particular features. His mother had learning difficulties and a facial phenotypic overlap. A maternal uncle had an intellectual developmental disorder. Physical examination revealed an unusual phenotype (triangular facies, long palpebral fissures and eyelashes, medially eyebrow loss, prominent auricles), mild brachydactylia and hypoplasia in the distal phalanges. The clinical exome identified the probably pathogenic variant NM_001145073.3: c.692delT in the USP27X gene. The results of the family segregation analysis were positive: the mother and maternal uncle were harbourers, while healthy maternal aunt was not.

Conclusions: We present two new cases of X-linked intellectual developmental disorder due to a previously unreported variant in the USP27X gene. Both patients presented neurological symptoms without any significant involvement at other levels, according to the literature. One of the cases presented microcephaly, particular features and digital anomalies, which broadens the phenotypic spectrum of this disease.

Introduction: Idiopathic intracranial hypertension (IIH) or benign intracranial hypertension is a rare disease in childhood. The clinical presentation in pediatric patients can be very variable, being more unespecific in younger patients.

Patients and methods: A retrospective descriptive study was carried out on patients diagnosed of IIH in the last eight years (2016-2023) in the neuropediatrics unit of a tertiary hospital. In the present study, the clinical-epidemiological characteristics and the diagnostic-therapeutic procedure carried out in each case were analyzed.

Results: We studied 14 patients, 57% were women. The average age at diagnosis was 9 years, headache was the most common reason for consultation. In all patients, papilledema was found in the fundus and neuroimaging didn´t find alterations. Optical coherence tomography has been carried out in 78.5% of the sample, > 80% of patients showed thickening of the retinal nerve fiber layer. All patients had a high cerebrospinal fluid opening pressure (>25 cmH2O). 57% of patients required treatment with acetazolamide, a carbonic anhydrase inhibito. In all patients the resolution was complete, however almost 30% of them have presented recurrences during follow-up.

Conclusions: In recent years there has been an increase in the incidence of this entity, making early diagnosis and treatment essential to avoid possible irreversible damage.

Introduction: Parkinson's disease is characterised by the presence of motor symptoms including hypomimia, and by non-motor symptoms including alterations in facial recognition of basic emotions. Few studies have investigated this alteration and its relationship to the severity of hypomimia.

Objective: The objective is to study the relationship between hypomimia and the facial recognition of basic emotions in subjects with Parkinson's disease.

Subjects and methods: Twenty-three patients and 29 controls were evaluated with the test battery for basic emotion facial recognition. The patients were divided into two subgroups according to the intensity of their hypomimia.

Results: The comparison in battery test performance between the minimal/mild hypomimia and moderate/severe hypomimia groups was statistically significant in favour of the former group.

Conclusions: This finding shows a close relationship between expression and facial recognition of emotions, which could be explained through the mechanism of motor simulation.

Introduction: The use of YouTube® has spread among patients with chronic diseases such as multiple sclerosis (MS). These patients consult the available videos to learn more about their disease in terms of diagnosis and making decisions about treatments, including rehabilitation. The aim of this study was to evaluate the content, educational value, and quality analysis of MS videos about neurorehabilitation on YouTube® using quantitative instruments.

Materials and methods: A search was conducted on YouTube®. The first 30 videos that met the inclusion criteria were reviewed. The videos were classified according to the upload source and the content. All videos included in the review were assessed by the DISCERN questionnaire, the JAMA benchmark, the global quality scale (GQS) and the video information and quality index (VIQI).

Results: The mean scores were: 28.3 (±9.33) in DISCERN, 2 (±0.81) in JAMA, 2.57 (±1.22) in GQS, and 11.73 (±4.06) in VIQI. JAMA score statistically significantly differed according to upload source (p = 0.002), video content (p = 0.023) and the speaker (p = 0.002). The DISCERN, JAMA, GQS, and VIQI scores showed significant correlations with each other.

Conclusions: The analyzed videos about neurorehabilitation in people with MS on YouTube® were quite old since the upload, with a moderate duration and number of views, but with a poor quality of the content, educational value, and quality analysis of the videos. Our research showed that there were statistically significant differences in terms of quality, transparency, and reliability of the information, depending on the upload source, video content and the speaker.

The XVI Post-ECTRIMS meeting was held in Seville on 20 and 21 October 2023, where expert neurologists in multiple sclerosis (MS) summarised the main new developments presented at the ECTRIMS 2023 congress, which took place in Milan from 11 to 13 October. The aim of this article is to summarise the content presented at the Post-ECTRIMS Meeting, in an article in two parts. This second part covers the health of women and elderly MS patients, new trends in the treatment of cognitive impairment, focusing particularly on meditation, neuroeducation and cognitive rehabilitation, and introduces the concept of fatigability, which has been used to a limited extent in MS. The key role of digitalization and artificial intelligence in the theoretically near future is subject to debate, along with the potential these technologies can offer. The most recent research on the various treatment algorithms and their efficacy and safety in the management of the disease is reviewed. Finally, the most relevant data for cladribine and evobrutinib are presented, as well as future therapeutic strategies currently being investigated.

Introduction: Reversible cerebral vasoconstriction syndrome is a clinicoradiological entity with a self-limiting course that manifests with recurrent episodes of thunderclap headache, and is associated with certain triggers. Recurrence is very rare, and the pathophysiology is thought to be related to altered autoregulation of the cerebrovascular tone. We present a clinical case that raises questions about possible recurrences and triggers.

Case report: A 44-year-old woman with a history of multiple sclerosis treated with interferon beta-1b who had four episodes of thunderclap headache while resting, after completing a course of corticosteroids due to a flare-up of optic neuritis. Three years earlier, the patient had presented several episodes of explosive-onset headache during a self-limited period of one month, only occurring during sexual intercourse. In the year prior to our assessment, she had suffered three thunderclap headaches with similar characteristics, but they were triggered only by intense physical exercise. She had not consulted a physician about these events. A cranial computed tomography scan was performed after the administration of contrast media and a cerebral arteriography, which were consistent with cerebral vasoconstriction syndrome, and its reversibility was confirmed three months later.

Conclusions: Reversible cerebral vasoconstriction syndrome shares a phenotypic expression with primary exertion headaches. It is associated with drugs with vasoactive effects, including interferons, and corticosteroids are associated with a worse prognosis, and such their administration should be avoided.

Introduction: Self-harm in children and young people with autism spectrum disorder (ASD) poses risks to their physical well-being, negatively impacts their quality of life and that of their families, and presents challenges to their integration into school and social environments. This study aimed to investigate possible differences in terms of gender between adolescents and young adults with autism admitted to the neurodevelopmental unit of ITA Argentona due to non-suicidal self-harming behaviour.

Patients and methods: A sample of 50 patients with ASD, whose ages ranged from 14 to 27 years, who were treated in the ITA Argentona neurodevelopmental unit. The methodology adopted consisted of a non-causal correlational cross-sectional study, for which the Autism Diagnostic Observation Schedule, second edition, and the Autism Diagnostic Interview-Revised were administered, as well as the Inventory of Statements About Self-injury.

Results: The results obtained revealed significant and positive correlations between sex and certain types of self-harm (burning, pulling hair and carving) and the motivations or functions that the participants report for engaging in non-suicidal self-harm.

Conclusions: Although the study concluded that there is no substantially greater likelihood of one sex in particular engaging non-suicidal self-harm, significant differences were identified in terms of the specific types of self-harm, and the motivations or functions associated with these non-suicidal self-harming behaviours.

Introduction: The increase in the number of people with upper limb spasticity as a sequela of cerebrovascular disease, which negatively impacts their autonomy, functional independence and participation, and affects their quality of life, calls for the application of precise and objective instruments for its measurement and evaluation.

Objective: To assess the validity and reliability of the Tardieu scale in the evaluation of upper extremity spasticity in adults with cerebrovascular disease.

Materials and methods: The search strategy was implemented in eight databases; the systematic review protocol was registered beforehand in INPLASY (with registration no. 2023110076). The evidence was synthesised in three phases: a tabular presentation of results, an evaluation of the quality of the articles, and a narrative synthesis of the findings.

Results: Only three of the 33 articles identified fulfilled the variables that enable the validity and reliability of the Tardieu scale to be established. The measurements of angles and velocities R1, R2 and R2-R1 were analysed. Student's t-test to assess the reliability between the measurements of R1 and R2; and angles R2 and R2-R1 showed statistical significance, which confirmed the reliability of the scale.

Conclusions: The Tardieu scale proved robust. It is important to note that the sample size, the time of evolution of the disease and the age of the patients may influence the results of the scale.

Assuming that a hypothesis is true because insufficient evidence has been found to reject it is a very common error when interpreting the p-value of a test in biomedical research. For example, a value of p = 0.28 obviously does not mean the null hypothesis should be ruled out, but if we understand what it means (which is not a mathematical issue, but instead a purely logical one) that it is equally obvious that it cannot be stated that it is true. If the samples in a comparison of a new drug with an old one show that the new one has a higher healing percentage and the p-value of the test is 0.0004, for example, the scientific community concludes that the new one is better. However, if for example the p-value of the test is 0.14, the scientific community does not conclude that the new one is as good as the old one. It merely concludes that the new one has not been shown to outperform the other one. It is therefore possible that an extension of the study with more cases may demonstrate that the new one is better.

The XVI Post-ECTRIMS meeting took place in Seville on 20 and 21 October 2023. This meeting was attended by neurologists specialising in multiple sclerosis (MS) from Spain, who shared a summary of the most interesting innovations at the ECTRIMS congress, which had taken place in Milan the previous week. The aim of this article is to summarise new developments related to the pathogenesis, diagnosis and prognosis of MS. The contributions of innate immunity and central nervous system resident cells, including macrophages and microglia in MS pathophysiology and as therapeutic targets were discussed. Compartmentalised intrathecal inflammation was recognised as central to understanding the progression of MS, and the relationship between inflammatory infiltrates and disease progression was highlighted. Perspectives in demyelinating pathologies were reviewed, focusing on neuromyelitis optica and myelin oligodendrocyte glycoprotein antibody-associated disease, highlighting their pathophysiological and diagnostic differences compared to MS. Advances in neuroimaging were also discussed, and especially the analysis of active chronic lesions, such as paramagnetic rim lesions. In the absence of clinical improvements in trials of remyelinating treatments, methodological strategies to optimise the design of future studies were proposed. Breakthroughs in detecting the prodromal phase of MS, the use of biomarkers in body fluids to assess activity, progression and treatment response, and research on progression independent of flares were addressed. The need to define criteria for radiologically isolated syndrome and to clarify the concept was also discussed.