The ability to predict long-term neurologic and neuropsychologic outcomes in 22 children, ages 1 week to 14 years at the time of traumatic brain injury, was investigated using proton magnetic resonance spectroscopy acquired post injury and compared with standardized neurologic, intellectual, and neuropsychologic testing done 1-7 years later. Clinical indicators of acute injury severity including age at injury, electroencephalography, spectroscopy metabolite ratio variables (N-acetyl aspartate/choline, choline/creatine) and lactate presence accurately classified children as functioning above or below the average range for most intellectual and neuropsychologic outcome measures. Combined clinical and spectroscopy variables accounted for approximately 50% of the variance in cognitive and neuropsychologic outcome confirming the validity of their predictive use. Of the injury severity indictors, presence of lactate is a particularly important prognostic marker of poor long-term intellectual and neuropsychologic functioning. Our findings indicate the potential for providing accurate estimates of long-term intellectual and neuropsychologic function after traumatic brain injury in infants and children using proton magnetic resonance spectroscopy in combination with clinical variables.
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http://dx.doi.org/10.1016/s0887-8994(02)00491-5 | DOI Listing |
Clin Genet
December 2024
Univ. Lille, CHU Lille, ULR7364 - RADEME - Maladies RAres du DEveloppement embryonnaire et du Métabolisme, CRMR Déficiences Intellectuelles de Causes Rares, Lille, France.
Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis (IDDDFP) is a rare autosomal dominant syndrome caused by pathogenic variants in the BRPF1 gene, which is critical for chromatin regulation. This study expands the clinical and molecular spectrum of IDDDFP by analysing 29 new patients from 20 families with confirmed BRPF1 variants. Our cohort presented with a wide range of clinical features including developmental delay, intellectual disability (ID) and characteristic dysmorphic facial features such as ptosis, blepharophimosis and a broad nasal bridge.
View Article and Find Full Text PDFBrain Commun
January 2025
Department of Neurology, Memory and Aging Center, University of California, San Francisco, CA 94158, USA.
The largest risk factor for dementia is age. Heterochronic blood exchange studies have uncovered age-related blood factors that demonstrate 'pro-aging' or 'pro-youthful' effects on the mouse brain. The clinical relevance and combined effects of these factors for humans is unclear.
View Article and Find Full Text PDFJ Intellect Dev Disabil
December 2024
Department of Neurology, University Hospital, LMU Munich, Germany.
Background: The CAMDEX-DS is an instrument to diagnose Alzheimer's disease (AD) in Down syndrome consisting of an informant interview and a cognitive test battery (CAMCOG-DS). Measurement properties of the German CAMDEX-DS were investigated.
Method: Fifty-five adults with Down syndrome (19-58 years) participated in this observational study.
Am J Med Genet A
January 2025
Medical Genetics and Genomic Medicine-Department of Translational Medicine, School of Medical Sciences, Campinas, Brazil.
Myhre syndrome is a rare disorder caused by pathogenic gain-of-function variants in the SMAD4 gene. Most of the patients have had de novo variants. There are several instances of autosomal dominant inheritance, and penetrance appears to be complete.
View Article and Find Full Text PDFAm J Med Genet C Semin Med Genet
January 2025
Medical Genetics, Department of Pediatrics, Mass General for Children, Boston, Massachusetts, USA.
Determining karyotype-phenotype correlations for individuals with Turner syndrome ("TS individuals") is a longstanding research endeavor. The limited literature on Turner syndrome (TS) with a ring X chromosome hinders counseling about the neuropsychological and clinical features. To further characterize these phenotypes, we compared 27 TS individuals with 46,X,r(X)/45,X ("ring X") to 50 non-mosaic 45,X, and 27 mosaic 45,X/46,XX ("mosaic 45,X") individuals.
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