Down syndrome (DS) is the most common genetic cause of intellectual and developmental disabilities in the United States with an estimated birth prevalence of 1:691 births; however, worldwide estimates of the number of individuals with intellectual and developmental disabilities, including DS, remain speculative. Little is known about the global health impact of DS, such as heart defects, gastrointestinal malformations, and other medical and behavioral issues. Further research is needed to develop the next generation of novel therapies and compounds aimed at improving cognition, reducing dementia, and mitigating other manifestations of DS. To address these challenges, the National Institutes of Health has created the first web-based, voluntary registry and data resource called DS-Connect: The Down Syndrome Registry to collect demographic and health information about individuals with DS.
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Decoding brain structure to stage Alzheimer's disease pathology in Down syndrome.
Alzheimers Dement
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Department of Neurology, Washington University School of Medicine, St. Louis, Missouri, USA.
Introduction: Alzheimer's disease (AD) in Down syndrome (DS) is associated with changes in brain structure. It is unknown if thickness and volumetric changes can identify AD stages and if they are similar to other genetic forms of AD.
Methods: Magnetic resonance imaging scans were collected for 178 DS adults (106 nonclinical, 45 preclinical, and 27 symptomatic).
Roadmap to advance therapeutics for -related disorder: a patient organization perspective from SynGAP Research Fund.
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SynGAP Research Fund, 2856 Curie Pl., San Diego, CA 92122, USA.
-related disorder (SRD) is a developmental and epileptic encephalopathy caused by a disruption of the gene. At the beginning of 2024, it is one of many rare monogenic brain disorders without disease-modifying treatments, but that is changing. This article chronicles the last 5 years, beginning when treatments for SRD were not publicly in development, to the start of 2024 when many SRD-specific treatments are advancing.
View Article and Find Full Text PDFMorbidities and comorbidities associated with optic nerve hypoplasia and septo-optic-pituitary dysplasia.
Dev Med Child Neurol
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Department of Community Health Sciences, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada.
Aim: To quantify optic nerve hypoplasia (ONH) and septo-optic-pituitary dysplasia (SOD) morbidities and comorbidities.
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Genetics of Prader-Willi and Angelman syndromes: 2024 update.
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Departments of Psychiatry &, Behavioral Sciences and Pediatrics, University of Kansas Medical Centre, Kansas City, Kansas, United States.
Purpose Of Review: Prader-Willi (PWS) and Angelman (AS) syndromes arise from errors in 15q11-q13 imprinting. This review describes recent advances in genomics and how these expand our understanding of these rare disorders, guiding treatment strategies to improve patient outcomes.
Recent Findings: PWS features include severe infantile hypotonia, failure to thrive, hypogonadism, developmental delay, behavioral and psychiatric features, hyperphagia, and morbid obesity, if unmanaged.
Rare DDX3X Gene Mutation in a Male Newborn With Super-refractory Status Epilepticus Responding to Lacosamide Drug Therapy.
Cureus
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Pediatric Neurology, Bahrain Defence Force Hospital, Riffa, BHR.
Super-refractory status epilepticus (SRSE) is defined as status epilepticus that persists or recurs after treatment with anesthetic agents for more than 24 hours, including cases with recurrent seizures on reduction or withdrawal of anesthetic drugs. Super-refractory status epilepticus presents a significant challenge for neurologists, particularly when standard treatments fail to achieve seizure control. Lacosamide, which has a unique mechanism involving modulating voltage-gated sodium channels by enhancing their slow inactivation, has emerged as a potential option for managing SRSE.
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