Similar disease progression in nonsense Duchenne muscular dystrophy boys as general natural history: Single Brazilian center 15 years registry view.

Duchenne muscular dystrophy is a progressive and fatal X-linked neuromuscular disease. Emergent disease-modifying therapy (DMT) in nonsense Duchenne muscular dystrophy (nmDMD) has brought new perspectives to slow down functional decline in this fatal disease. To investigate if there are differences in natural history between nmDMD and other genotypes, we described a retrospective cohort analysis of 25 nonsense mutation DMD (nmDMD) boys without disease-modifying therapy, aged between 1 and 22 years, over the last 15 years (2007-2022) in a single neuromuscular center in Rio de Janeiro and use published data on DMD natural history for comparison.

Why should a 5q spinal muscular atrophy neonatal screening program be started?

Spinal muscular atrophy (SMA) is a genetic neuromuscular progressive disorder that is currently treatable. The sooner the disease-modifying therapies are started, the better the prognosis. Newborn screening for SMA, which is already performed in many countries, has been scheduled to begin in the near future.

Consensus from the Brazilian Academy of Neurology for the diagnosis, genetic counseling, and use of disease-modifying therapies in 5q spinal muscular atrophy.

Spinal muscular atrophy linked to chromosome 5 (SMA-5q) is an autosomal recessive genetic disease caused by mutations in the . SMA-5q is characterized by progressive degeneration of the spinal cord and bulbar motor neurons, causing severe motor and respiratory impairment with reduced survival, especially in its more severe clinical forms. In recent years, highly effective disease-modifying therapies have emerged, either acting by regulating the splicing of exon 7 of the gene or adding a copy of the gene through gene therapy, providing a drastic change in the natural history of the disease.

Update of the Brazilian consensus recommendations on Duchenne muscular dystrophy.

In the last few decades, there have been considerable improvements in the diagnosis and care of Duchenne muscular dystrophy (DMD), the most common childhood muscular dystrophy. International guidelines have been published and recently reviewed. A group of Brazilian experts has developed a standard of care based on a literature review with evidence-based graded recommendations in a two-part publication.

Can simple and low-cost motor function assessments help in the diagnostic suspicion of Duchenne muscular dystrophy?

Objective: Duchenne muscular dystrophy, an X-linked genetic disease, leads to progressive muscle weakness mainly in the lower limbs. Motor function tests help to monitor disease progression. Can low-cost, simple assessments help in the diagnostic suspicion of Duchenne muscular dystrophy? The authors aim to define the sensitivity of time to rise from the floor, time to walk 10meters, and time to run 10meters, evaluating them as eventual diagnostic screening tools.

Allgrove syndrome and motor neuron disease.

Allgrove or triple A syndrome (AS or AAA) is a rare autosomal recessive syndrome with variable phenotype due to mutations in gene which encodes a protein called ALADIN. Generally, it's characterized by of adrenal insufficiency in consequence of adrenocorticotropic hormone (ACTH) resistance, besides of achalasia, and alacrimia. Neurologic features are varied and have been the subject of several case reports and reviews.

Working memory and left medial temporal cortical thickness.

Objective: To perform a pilot study to investigate the association between working memory and cortical thickness in a sample of attention deficit/hyperactivity disorder (ADHD) children.

Methods: Seventeen children aged 7-10 years diagnosed with ADHD and 16 healthy children underwent a magnetic resonance scan for cortical thickness measurements. Data was correlated with working memory performance using the Backwards Digit Span subtest of the Wechsler Intelligence Scale for Children.

CD49d is a disease progression biomarker and a potential target for immunotherapy in Duchenne muscular dystrophy.

Background: Duchenne muscular dystrophy (DMD) is caused by mutations in the dystrophin gene. The immune inflammatory response also contributes to disease progression in DMD patients. In a previous study, we demonstrated higher levels of circulating CD49dhi and CD49ehi T cells in DMD patients compared to healthy control.

Timed motor function tests capacity in healthy children.

Objective: Motor function tests are used clinically and in research in children, particularly in those with neuromuscular disorders. Timed function tests are recommended in the follow-up of patients with neuromuscular disorders. This study was designed to know how healthy children perform on simple timed motor function tests.

Advanced techniques in magnetic resonance imaging of the brain in children with ADHD.

Attention deficit hyperactivity disorder (ADHD) affects about 5% of school-aged child. Previous published works using different techniques of magnetic resonance imaging (MRI) have demonstrated that there may be some differences between the brain of people with and without this condition. This review aims at providing neurologists, pediatricians and psychiatrists an update on the differences between the brain of children with and without ADHD using advanced techniques of magnetic resonance imaging such as diffusion tensor imaging, brain volumetry and cortical thickness, spectroscopy and functional MRI.

Vascular perfusion abnormalities in infants with spinal muscular atrophy.

Spinal muscular atrophy (SMA) is an important cause of death in children and SMA type I, also known as Werdnig-Hoffman disease, is the most severe form of this disease. We report 2 cases of infants with SMA I in whom a distal necrosis developed, a feature not previously reported. Poor perfusion, autonomic dysfunction, and position-dependent factors may all play a role in the development of this complication.

Academic performance in ADHD when controlled for comorbid learning disorders, family income, and parental education in Brazil.

Objective: Scholastic achievement in a nonclinical sample of ADHD children and adolescents was evaluated taking into consideration variables such as comorbid learning disorders, family income, and parental education which may also be associated with poor academic performance.

Method: After screening for ADHD in 396 students, the authors compared academic performance of 26 ADHD individuals and 31 controls paired for gender, age, and intelligence level considering both mathematics and Portuguese language scores. Learning disorders were investigated and the Diagnostic and Statistical Manual of Mental Disorders (4th ed.

[Prevalence of attention deficit hyperactivity disorder and its comorbidities in a sample of school-aged children].

Unlabelled: Attention deficit hyperactivity disorder (ADHD) is a frequent condition in school-age children and commonly presents in comorbidity with other psychiatric diseases. In Brazil, there are few studies concerning non-clinical samples.

Purpose: The present study aims to calculate the prevalence of this disorder and its comorbidities in a sample of school-age children.

Management of rheumatic chorea: an observational study.

Background: Rheumatic chorea (RC) has recently been linked to an antibody-mediated immune mechanism.

Objective/method: To verify if this knowledge reflected in management changes we conceived a descriptive study.

Results: The medical charts of 20 children (13 females) aged 6 to 12 years (mean 8 years), diagnosed as RC from June 1996 to June 1999, were reviewed.