Search results for " onset"
showing 10 items of 418 documents
Pyridoxine dependent epilepsies: new therapeutical point of view
2017
Abstract Pyridoxine dependent epilepsies (PDEs) are rare autosomal recessive disorders with onset in neonatal period. Seizures are typically not responsive to conventional antiepileptic drugs, but they cease after parental pyridoxine administration. Atypical forms are characterized partly response to pyridoxine and a late onset of symptoms (up to the age of three years). Prevalence is variable and it has rarely been described. The genes involved in PDEs are the gene encoding for the Alpha-aminoadipic-semialdehyde dehydrogenase (ALDH7A1) and PROSC gene, which encodes a pyridoxal-5-phosphate binding protein. Mutations in the gene encoding for the pyridoxal-5′-phosphate oxidase enzyme (PNPO) a…
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebel…
2018
International audience; Developmental and epileptic encephalopathies (DEEs) represent a large clinical and genetic heterogeneous group of neurodevelopmental diseases. The identification of pathogenic genetic variants in DEEs remains crucial for deciphering this complex group and for accurately caring for affected individuals (clinical diagnosis, genetic counseling, impacting medical, precision therapy, clinical trials, etc.). Whole-exome sequencing and intensive data sharing identified a recurrent de novo PACS2 heterozygous missense variant in 14 unrelated individuals. Their phenotype was characterized by epilepsy, global developmental delay with or without autism, common cerebellar dysgene…
Application of whole-exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disability
2016
International audience; Neutropenia can be qualified as congenital when of neonatal onset or when associated with extra-hematopoietic manifestations. Overall, 30% of patients with congenital neutropenia (CN) remain without a molecular diagnosis after a multidisciplinary consultation and tedious diagnostic strategy. In the rare situations when neutropenia is identified and associated with intellectual disability (ID), there are few diagnostic hypotheses to test. This retrospective multicenter study reports on a clinically heterogeneous cohort of 10 unrelated patients with CN associated with ID and no molecular diagnosis prior to whole-exome sequencing (WES). WES provided a diagnostic yield o…
Expanding the β-III Spectrin-Associated Phenotypes toward Non-Progressive Congenital Ataxias with Neurodegeneration
2021
(1) Background: A non-progressive congenital ataxia (NPCA) phenotype caused by b-III spectrin (SPTBN2) mutations has emerged, mimicking spinocerebellar ataxia, autosomal recessive type 14 (SCAR14). The pattern of inheritance, however, resembles that of autosomal dominant classical spinocerebellar ataxia type 5 (SCA5). (2) Methods: In-depth phenotyping of two boys studied by a customized gene panel. Candidate variants were sought by structural modeling and protein expression. An extensive review of the literature was conducted in order to better characterize the SPTBN2-associated NPCA. (3) Results: Patients exhibited an NPCA with hypotonia, developmental delay, cerebellar syndrome, and cogni…
DNA Methylation Analysis to Unravel Altered Genetic Pathways Underlying Early Onset and Late Onset Neonatal Sepsis. A Pilot Study
2021
Background: Neonatal sepsis is a systemic condition widely affecting preterm infants and characterized by pro-inflammatory and anti-inflammatory responses. However, its pathophysiology is not yet fully understood. Epigenetics regulates the immune system, and its alteration leads to the impaired immune response underlying sepsis. DNA methylation may contribute to sepsis-induced immunosuppression which, if persistent, will cause long-term adverse effects in neonates.Objective: To analyze the methylome of preterm infants in order to determine whether there are DNA methylation marks that may shed light on the pathophysiology of neonatal sepsis.Design: Prospective observational cohort study perf…
Mild cognitive impairment in Parkinson’s disease: the Parkinson’s disease cognitive study (PACOS)
2018
Approximately 30% of Parkinson's disease (PD) patients show impaired cognitive performance, which is suggestive of Mild Cognitive Impairment (MCI), representing a predictor of dementia, especially when present at diagnosis. The objective of the study was to evaluate the frequency and clinical predictors of MCI in a large hospital-based cohort of PD patients. We collected cross-sectional data from the Parkinson's disease cognitive impairment study (PACOS), a multicenter study involving two Movement Disorder centers, which are located in south Italy. The PD subjects were diagnosed according to the UK Brain Bank criteria and they underwent an extensive neuropsychological assessment. PD-MCI was…
The titanium-made growth-guidance technique for early-onset scoliosis at minimum 2-year follow-up: A prospective multicenter study.
2019
Background The management of early-onset scoliosis (EOS) remains a serious challenge in pediatric orthopedics. The growth-guidance system (GGS) is a surgical option that allows continuous growth along a rod, averting the need for repeated operative lengthening. Objectives The objective of this study was to evaluate the outcomes of the GGS in the treatment of EOS. Material and methods A prospective study, including 81 patients from 4 departments treated with this method from 2013 to 2015, was conducted with a minimum follow-up period of 24 months. The follow-up data of 57 patients was available, thus the drop-out rate was 29.63%. There were 44 girls with a mean age of 10.03 years and 13 boys…
Prospective associations of early-onset Axis I disorders with developing eating disorders
2009
Objective: The purpose of this study is to analyze the developmental relationships of adolescent-onset Axis I mental disorders and eating disorders (EDs).Method: One thousand three hundred eighteen adolescent twins born from 1983 to 1987 completed a professionally administered semistructured psychiatric interview at the age of 14 years and a questionnaire follow-up at the age of 17.5 years.Results: Eating disorders at the age of 17.5 years were significantly predicted by major depressive disorder (odds ratio, 5.9; 95% confidence interval, 2.6-15.3) and generalized anxiety disorder (GAD) (odds ratio, 4.7; 95% confidence interval, 1.8-15.6) at the age of 14 years, when baseline EDs were exclu…
Are There Lower Repetition Priming Effects in Children with Developmental Dyslexia? Priming Effects in Spanish with the Masked Lexical Decision Task.
2016
The aim of this study was to compare the reaction times and errors of Spanish children with developmental dyslexia to the reaction times and errors of readers without dyslexia on a masked lexical decision task with identity or repetition priming. A priming paradigm was used to study the role of the lexical deficit in dyslexic children, manipulating the frequency and length of the words, with a short Stimulus Onset Asynchrony (SOA = 150 ms) and degraded stimuli. The sample consisted of 80 participants from 9 to 14 years old, divided equally into a group with a developmental dyslexia diagnosis and a control group without dyslexia. Results show that identity priming is higher in control childr…
Childhood gene-environment interactions and age-dependent effects of genetic variants associated with refractive error and myopia: The CREAM Consorti…
2018
Myopia, currently at epidemic levels in East Asia, is a leading cause of untreatable visual impairment. Genome-wide association studies (GWAS) in adults have identified 39 loci associated with refractive error and myopia. Here, the age-of-onset of association between genetic variants at these 39 loci and refractive error was investigated in 5200 children assessed longitudinally across ages 7-15 years, along with gene-environment interactions involving the major environmental risk-factors, nearwork and time outdoors. Specific variants could be categorized as showing evidence of: (a) early-onset effects remaining stable through childhood, (b) early-onset effects that progressed further with i…