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Objective: This study aimed to investigate the prevalence of autism spectrum disorder and its possible correlations with clinical characteristics in patients with infantile epileptic spasms syndrome in a single center in Brazil., Methods: This retrospective cross-sectional study examined 53 children with the diagnosis of infantile epileptic spasms syndrome prior to an autism spectrum disorder assessment. Participants were divided into two groups based on the presence or absence of autism spectrum disorder. Available variables (sex, medications, median age at onset of infantile epileptic spasms syndrome, and presence of comorbidities) were compared using Mann-Whitney U or chi-square tests., Results: Among the included patients, 12 (23 %) were diagnosed with autism spectrum disorder, corresponding to a relative risk of 0.29 (95 % confidence interval 0.174-0.492). The age at the first seizure ranged from 3 to 15 months, with a mean of 6.65 months. This age significantly differed between participants with autism spectrum disorder (10.58 months) and those without (5.43 months), p<0.001., Conclusion: Children with infantile epileptic spasms syndrome have a higher risk of being diagnosed with autism spectrum disorder. Later age of onset and period of spasm occurrence might be predisposing risk factors., Competing Interests: Conflicts of interest The authors declare no conflicts of interest., (Copyright © 2024 Sociedade Brasileira de Pediatria. Published by Elsevier Editora Ltda. All rights reserved.)

Introduction  Parkinson disease (PD) is a progressive degeneration characterized by motor disorders, such as tremor, bradykinesia, stiffness and postural instability. Objective  To evaluate the independence, confidence and balance in the development of daily activities in patients with PD before and after rehabilitation. Methods  A descriptive, retrospective cross-sectional study was carried out with 16 patients (mean 57.6 ± 18.7 years), submitted to anamnesis, otolaryngological evaluation and vestibular assessment. The Vestibular Disorders Activities of Daily Living (VADL) and the Activities-Specific Balance Confidence (ABC) scales were applied before and after rehabilitation with virtual reality. Results  a) The instrumental subscale of the questionnaire showed statistically significant result ( p  = 0.022; 95% CI 1.21; 2.21) between the first and second assessments; b) The correlation between the questionnaires showed statistically significant result in the ambulation subscale ( p  = 0.011; 95% CI -0.85; -0.17) first and ( p  = 0.002, 95% CI -0.88; -0.31) second assessments, and the functional subscale was only verified in the second assessment ( p  = 0.011, 95% CI -0.85; -0.17); and c) The patients presented clinical improvement in the final assessment after rehabilitation with significant result for the tightrope walk ( p  = 0.034, 95% CI -12.5; -0.3) and ski slalom games ( p  = 0.005, 95% CI -34.8; -6.6). Conclusions  Our results showed that the VADL and ABC questionnaires, applied before and after rehabilitation, were important tools to measure the independence, confidence and balance while developing daily activities. The VADL and ABC questionnaires may effectively contribute to quantify the effect of the applied therapeutics and, consequently, its impact on the quality of life of patients with PD., Competing Interests: Conflict of Interests The authors have no conflict of interests to declare. The authors M. I. R. S. and G. J. B. S. performed data collection, tabulation, and literature review; J. M. M. performed statistical analysis and literature review; H. A. G. T., J. S. M., M. R. J., M. R. R., P. B. N. L. and R. S. S. performed manuscript writing and final revision; and B. S. Z. was responsible for the project and study design in addition to general supervision of the performance steps and manuscript elaboration., (Fundação Otorrinolaringologia. This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. ( https://creativecommons.org/licenses/by/4.0/ ).)

Introduction  Spinocerebellar ataxia (SCA) is part of a genetic and clinical heterogeneous group of neurodegenerative diseases characterized by progressive cerebellar ataxia. Objective  To describe the results of audiological and electrophysiological hearing evaluations in patients with sporadic ataxia (SA). Methods  A retrospective cross-sectional study was carried out with 11 patients submitted to the following procedures: anamnesis, otorhinolaryngological evaluation, tonal and vocal audiometry, acoustic immittance and brainstem auditory evoked potential (BAEP) tests. Results  The patients presented with a prevalence of gait imbalance, of dysarthria, and of dysphagia; in the audiometric and BAEPs, four patients presented with alterations; in the acoustic immittance test, five patients presented with alterations, predominantly bilateral. Conclusion  The most evident alterations in the audiological evaluation were the prevalence of the descending audiometric configuration between the frequencies of 2 and 4 kHz and the absence of the acoustic reflex between the frequencies of 3 and 4 kHz bilaterally. In the electrophysiological evaluation, the patients presented changes with a prevalence of increased I, III and V wave latencies and the interval in the interpeak I-III, I-V and III-V. In the present study, it was observed that auditory complaints did not have a significant prevalence in this type of ataxia, which does not occur in some types of autosomal recessive and dominant ataxia., Competing Interests: Conflicts of Interests The authors have no conflicts of interests to declare.

Purpose: The purpose of this study was to demonstrate the association between benign rolandic epilepsy of childhood (BREC) and central auditory processing disorders (CAPDs) and to test the hypothesis that an early onset of BREC could be associated with more cases of CAPD., Method: This study has a retrospective cross-sectional design conducted from January 2006 to January 2016 including 93 patients with BREC and without intellectual disability, dyslexia, and attention-deficit hyperactivity disorders. All patients were evaluated for central auditory processing (CAP), and its presence or absence was compared with age of seizure onset., Results: In all patients, audiometric test results were normal, and in 43 cases (46.2%), CAPD was detected. There was no significant statistical difference in the mean age of seizure onset., Conclusion: A significant proportion of children with BREC will have a diagnosis of CAPD at school age., (Copyright © 2018. Published by Elsevier Inc.)

Background: Townes-Brocks syndrome (TBS) is a rare autosomal dominant condition characterized by renal, anal, limb, and auditory abnormalities. TBS diagnosis can be challenging in settings where genetic analysis is not readily available. TBS traits overlap with those of Goldenhar and VACTERL syndromes., Case Presentation: Here, we present the case of a 5-year-old Brazilian boy born with an anorectal abnormality, limb and external ears malformations, genitourinary anomalies, and a congenital heart defect. Genetic analysis revealed a SALL1 nonsense mutation. The case is discussed in the context of the current literature., Conclusions: Because of the variability in TBS clinical presentation, genetic analysis is key to the differential diagnosis of TBS relative to phenotypically similar syndromes.

Introduction: Spinocerebellar ataxias (SCAs) are a heterogeneous group of neurodegenerative diseases that are characterized by the presence of progressive cerebellar ataxia., Objective: Identify vestibular disorders and demonstrate the importance of labyrinthine examination in the prognosis and therapy for balance in patients with SCAs., Materials and Methods: The study had a retrospective cross-sectional design and evaluated 57 patients, mean age of 41.6 years and standard deviation of 13 years. Patients underwent the following procedures: anamnesis, ENT examination and vestibular exam using electronystagmography (ENG)., Results: The most frequent complaints were gait imbalance (71.9%), dysarthria (49.1%), dizziness (43.8%) and dysphagia (36.8%). 84.2% of the tests showed alterations. The most common tests with alterations were the caloric test (78.9%), slow saccades (61.4%) and the rotating chair test (49.1%)., Conclusion: The clinical history of the patient and oculomotor alterations in the labyrinthine examination provide sufficient information for the proper use of virtual rehabilitation protocols in the treatment of imbalance, making it the most effective therapy method. It was evident that changes in ENG are related to the severity of the SCA or the clinical stage of the disease. The labyrinthine examination proved to be an important concomitant tool to clinical and genetic study.

Objective: To analyze perinatal features of children with autism spectrum disorder (ASD)., Methods: Retrospective review of the medical records of 75 children with ASD, between January 2008 and January 2015. Inclusion criteria were diagnosis of ASD based on DSM-5 criteria, and the informed consent form signed by the person who is legally responsible. The exclusion criterion was missing on the medical record. The variables analyzed were maternal age, prematurity (gestational age under 37 weeks), low birth weight (<2,500 g), and perinatal asphyxia (5th minute Apgar score <7). Data were analyzed using the difference between proportions test, being significant p<0.05., Results: Seventy-five patients were included. Maternal age ranged from 21.4 to 38.6 years (29.8±4.1 years). Premature birth occurred in 14 (18.7%) patients, perinatal asphyxia in 6 (8.0%), and low birth weight in 32 (42.6%) patients. The prevalence of prematurity, low birth weight, and perinatal asphyxia among the children in our study was higher than the general prevalence of these conditions among all live births in our country, region, and state, which are, respectively, 11.5, 2.3, and 8.5% in Brazil; 11.0, 2.2, and 8.5% in Southern Brazil; and 10.5, 2.0, and 8.4% in the state of Paraná., Conclusions: Our findings show a higher prevalence of prematurity, low birth weight, and perinatal asphyxia among children with ASD. Some limitations are the retrospective study design, and the small sample size. Large prospective studies are needed to clarify the possible association between perinatal complications and ASD.