Communication symbols for students with severe intellectual disabilities often take the form of computer-generated line drawings. This study investigated the effects of the match between color and shape of line drawings and the objects they represented on drawing recognition and use. The match or non-match between color and shape of the objects and drawings did not have an effect on participants' ability to match drawings to objects, or to use drawings to make choices.
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http://dx.doi.org/10.1080/07434610802602810 | DOI Listing |
Alzheimers Dement
January 2025
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).
Curr Opin Psychiatry
December 2024
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.
Lancet
January 2025
Department of Dermatology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA. Electronic address:
Background: Dermatomyositis is a chronic autoimmune disease with distinctive cutaneous eruptions and muscle weakness, and the pathophysiology is characterised by type I interferon (IFN) dysregulation. This study aims to assess the efficacy, safety, and target engagement of dazukibart, a potent, selective, humanised IgG1 neutralising monoclonal antibody directed against IFNβ, in adults with moderate-to-severe dermatomyositis.
Methods: This multicentre, double-blind, randomised, placebo-controlled, phase 2 trial was conducted at 25 university-based hospitals and outpatient sites in Germany, Hungary, Poland, Spain, and the USA.
Diagnostics (Basel)
December 2024
Genetics Department, Hospital Sant Joan de Déu, Member of ERN-ITHACA, 08950 Esplugues de Llobregat, Spain.
: duplication syndrome (MDS) (MIM#300260) is a rare X-linked neurodevelopmental disorder. This study aims to (1) develop a specific clinical severity scale, (2) explore its correlation with clinical and molecular variables, and (3) automate diagnosis using the Face2gene platform. : A retrospective study was conducted on genetically confirmed MDS patients who were evaluated at a pediatric hospital between 2012 and 2024.
View Article and Find Full Text PDFEarly Hum Dev
January 2025
Division of Neonatology, Department of Maternal, Fetus and Perinatal Center, Saitama Children's Medical Center, Saitama, Japan.
Background: Hypoxic-ischemic encephalopathy (HIE) is still associated with death and sequelae including cerebral palsy and intellectual disability despite induced hypothermia. Biomarkers, as early predictive indicators of adverse outcomes, are lacking.
Aims: To investigate whether post-rewarming cerebrospinal fluid (CSF)-neuro-specific enolase (NSE) levels after hypothermia are associated with neurodevelopmental outcomes at age six years, alone or when combined with amplitude-integrated electroencephalography (aEEG) and brain magnetic resonance imaging (MRI), as neuroimaging and neurophysiological indicators, respectively.
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