Risk of autism spectrum disorder in children with infantile epileptic spasms syndrome: a retrospective study in a single center in Brazil.

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.

The Use of Exergames in the Neurorehabilitation of People with Parkinson Disease: The Impact on Daily Life.

 Parkinson disease (PD) is a progressive degeneration characterized by motor disorders, such as tremor, bradykinesia, stiffness and postural instability.  To evaluate the independence, confidence and balance in the development of daily activities in patients with PD before and after rehabilitation.  A descriptive, retrospective cross-sectional study was carried out with 16 patients (mean 57.

Pure-Tone Hearing Thresholds and Brainstem Auditory Evoked Potentials in Sporadic Ataxia.

 Spinocerebellar ataxia (SCA) is part of a genetic and clinical heterogeneous group of neurodegenerative diseases characterized by progressive cerebellar ataxia.  To describe the results of audiological and electrophysiological hearing evaluations in patients with sporadic ataxia (SA).  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.

Benign rolandic epilepsy of childhood and central auditory processing disorder: A noncasual neurophysiological association.

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.

Phenotypic and genotypic aspects of Townes-Brock syndrome: case report of patient in southern Brazil with a new SALL1 hotspot region nonsense mutation.

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.

PERINATAL FEATURES OF CHILDREN WITH AUTISM SPECTRUM DISORDER.

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 Importance of Labyrinthine Examination in the Prognosis and Therapy for Balance in Spinocerebellar Ataxia.

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.

Central auditory processing in patients with spinocerebellar ataxia.

Background: Autosomal dominant spinocerebellar ataxias (SCAs) are a group of rare and heterogeneous neurodegenerative diseases characterized by the presence of progressive cerebellar ataxia. Although the symptomatology of SCAs is well known, information regarding central auditory functioning in these patients is lacking. Therefore, we assessed the central auditory processing disorders (CAPD) in patients with different subtypes of SCA.

Vestibular findings in military band musicians.

Introduction Exposure to music is the subject of many studies because it is related to an individual's professional and social activities. Objectives Evaluate the vestibular behavior in military band musicians. Methods A retrospective cross-sectional study was performed.

Audiological findings in patients submitted to kidney transplant.

Purpose: To investigate the auditory behavior of patients with chronic renal failure (CRF) undergoing kidney transplantation.

Methods: Thirty patients were evaluated, 10 (33.33%) females and 20 (66.

Otoneurologic findings in a fishermen population of the state of santa catarina: preliminary study.

Introduction Fishing, one of the oldest productive activities, is an important sector of the national and world economy. Aim To evaluate the vestibular behavior in a population of fishermen. Methods In a retrospective and cross-sectional study, 13 fishermen (mean 45.

Higher mortality rate is associated with advanced age and periodic lateralized epileptiform discharges in patients with refractory status epilepticus.

Objective: To evaluate clinical data, electroencephalogram, etiology, classification, treatment, morbidity, and mortality in acute refractory status epilepticus.

Methods: Fifteen patients, mean age of 41.3 years-old, six males, with refractory status epilepticus, were retrospectively studied.

Vestibular dysfunction in adolescents and young adults after kidney transplant.

Introduction: Chronic kidney disease is a slowly progressive disease that causes irreversible loss of renal function and is considered a public health problem worldwide.

Objective: To evaluate the vestibular behavior in patients with chronic kidney disease undergoing renal transplantation.

Methods: A retrospective cross-sectional study was performed.

Refractory nonconvulsive status epilepticus in coma: analysis of the evolution of ictal patterns.

Objective: Nonconvulsive status epilepticus (NCSE) is currently considered as one of the most frequent types of status epilepticus (SE). The objective of the present study was to identify the natural history of the electrographical evolution of refractory NCSE and to establish the relationship between ictal patterns and prognosis.

Methods: We analyzed, retrospectively, 14 patients with loss of consciousness and NCSE.

Effects of sleep deprivation on central auditory processing.

Background: Sleep deprivation is extremely common in contemporary society, and is considered to be a frequent cause of behavioral disorders, mood, alertness, and cognitive performance. Although the impacts of sleep deprivation have been studied extensively in various experimental paradigms, very few studies have addressed the impact of sleep deprivation on central auditory processing (CAP). Therefore, we examined the impact of sleep deprivation on CAP, for which there is sparse information.

Electronystagmography findings in spinocerebellar ataxia type 3 (SCA3) and type 2 (SCA2).

Objective: To describe the alterations observed in electronystagmography (ENG) of patients with spinocerebellar ataxia (SCA) types 2 and 3.

Method: Sixteen patients were studied and the following procedures were carried out: anamnesis, otorhinolaryngological and vestibular evaluations.

Results: The clinical findings in the entire group of patients were: gait disturbances (93.

Otoneurological findings in spinocerebellar ataxia.

Objective: Describe findings observed in ENG of patients with spinocerebellar ataxias.

Method: Forty-three patients were studied, and the following procedures were carried out: anamnesis, otorhinolaryngological and vestibular evaluation (ENG).

Results: The clinical findings in the entire group of patients were: gait disturbances (83.

Epileptic seizures and EEG features in juvenile systemic lupus erythematosus.

Introduction: Juvenile systemic lupus erythematosus is more incident in female affecting different systems including the central nervous system. The aim of this study was to check the incidence of seizures and electroencephalographic features in these patients.

Method: It was analyzed all patients with juvenile systemic lupus erythematosus referred to the Pequeno Príncipe Hospital in Curitiba, PR, Brazil, in the year of 2007.

De Morsier syndrome associated with periventricular nodular heterotopia: case report.

Introduction: Septo-optic dysplasia (De Morsier syndrome) is defined as the association between optic nerve hypoplasia, midline central nervous system malformations and pituitary dysfunction.

Case Report: Third child born to nonconsanguineous parents, female, adequate pre-natal medical care, cesarean term delivery due to breech presentation, Apgar score 3 at the first minute and 8 at 5 minutes, symptomatic hypoglycemia at 18 hours. Neurological follow-up identified a delay in acquisition of motor and language developmental milestones.

Clinical, laboratory and neuroimage findings in juvenile systemic lupus erythematosus presenting involvement of the nervous system.

Objective: To characterize neurological involvement in juvenile systemic lupus erythe-matosus.

Method: The charts of all patients with the diagnosis of systemic lupus erythematosus before the age of 16 years, followed at the Rheumatology Unit of Pequeno Príncipe Hospital, from January 1992 to January 2006, were retrospectively reviewed, highlighting neuropsychiatric aspects.

Results: Forty-seven patients were included.

Lissencephaly, abnormal genitalia and refractory epilepsy: case report of XLAG syndrome.

Introduction: X-linked lissencephaly with ambiguous genitalia (XLAG) is a recently described genetic disorder caused by mutation in the aristaless-related homeobox (ARX) gene (Xp22.13). Patients present with lissencephaly, agenesis of the corpus callosum, refractory epilepsy of neonatal onset, acquired microcephaly and male genotype with ambiguous genitalia.

[Acute coma in children: etiology, morbidity and mortality].

Objective: An analysis was conducted on the etiology and the morbi-mortality of pediatric patients in acute coma, hospitalized at the Intensive Care Unit of Hospital Infantil Pequeno Príncipe (UTI-HIPP).

Method: One hundred and four control sheets of children hospitalized at the UTI-HIPP and diagnosed as being in acute coma were analyzed. The Glasgow coma scale duly modified for children was used, with a score count equal to or lower than 8 points.