Search results for "Speech"

Heterozygous deletion of the LRFN2 gene is associated with working memory deficits

2016

International audience; Learning disabilities (LDs) are a clinically and genetically heterogeneous group of diseases. Array-CGH and high-throughput sequencing have dramatically expanded the number of genes implicated in isolated intellectual disabilities and LDs, highlighting the implication of neuron-specific post-mitotic transcription factors and synaptic proteins as candidate genes. We report a unique family diagnosed with autosomal dominant learning disability and a 6p21 microdeletion segregating in three patients. The 870 kb microdeletion encompassed the brain-expressed gene LRFN2, which encodes for a synaptic cell adhesion molecule. Neuropsychological assessment identified selective w…

The Cumulative Effect of Transient Synchrony States on Motor Performance in Parkinson's Disease.

2020

Bursts of beta frequency band activity in the basal ganglia of patients with Parkinson's disease (PD) are associated with impaired motor performance. Here we test in human adults whether small variations in the timing of movement relative to beta bursts have a critical effect on movement velocity and whether the cumulative effects of multiple beta bursts, both locally and across networks, matter.

Passive exposure to speech sounds induces long-term memory representations in the auditory cortex of adult rats

2016

AbstractExperience-induced changes in the functioning of the auditory cortex are prominent in early life, especially during a critical period. Although auditory perceptual learning takes place automatically during this critical period, it is thought to require active training in later life. Previous studies demonstrated rapid changes in single-cell responses of anesthetized adult animals while exposed to sounds presented in a statistical learning paradigm. However, whether passive exposure to sounds can form long-term memory representations remains to be demonstrated. To investigate this issue, we first exposed adult rats to human speech sounds for 3 consecutive days, 12 h/d. Two groups of …

Alignment Free Dissimilarities for Nucleosome Classification

2016

Epigenetic mechanisms such as nucleosome positioning, histone modifications and DNA methylation play an important role in the regulation of cell type-specific gene activities, yet how epigenetic patterns are established and maintained remains poorly understood. Recent studies have shown a role of DNA sequences in recruitment of epigenetic regulators. For this reason, the use of more suitable similarities or dissimilarity between DNA sequences could help in the context of epigenetic studies. In particular, alignment-free dissimilarities have already been successfully applied to identify distinct sequence features that are associated with epigenetic patterns and to predict epigenomic profiles…

Confirmation of PDZD7 as a Nonsyndromic Hearing Loss Gene.

2016

Objective PDZD7 was identified in 2009 in a family with apparent nonsyndromic sensorineural hearing loss. However, subsequent clinical reports have associated PDZD7 with digenic Usher syndrome, the most common cause of deaf-blindness, or as a modifier of retinal disease. No further reports have validated this gene for nonsyndromic hearing loss, intuitively calling correct genotype-phenotype association into question. This report describes a validating second case for biallelic mutations in PDZD7 causing nonsyndromic mild to severe sensorineural hearing loss. It also provides detailed audiometric and ophthalmologic data excluding Usher syndrome in both the present proband (proband 1) and the…

Narrowing the Genetic Causes of Language Dysfunction in the 1q21.1 Microduplication Syndrome

2018

The chromosome 1q21.1 duplication syndrome (OMIM# 612475) is characterized by head anomalies, mild facial dysmorphisms, and cognitive problems, including autistic features, mental retardation, developmental delay, and learning disabilities. Speech and language development are sometimes impaired, but no detailed characterization of language problems in this condition has been provided to date. We report in detail on the cognitive and language phenotype of a child who presents with a duplication in 1q21.1 (arr[hg19] 1q21.1q21.2(145,764,455-147,824,207) × 3), and who exhibits cognitive delay and behavioral disturbances. Language is significantly perturbed, being the expressive domain the most …

Cortical Reorganization after Rehabilitation in a Patient with Conduction Aphasia Using High-Density EEG

2020

Conduction aphasia is a language disorder occurred after a left-brain injury. It is characterized by fluent speech production, reading, writing and normal comprehension, while speech repetition is impaired. The aim of this study is to investigate the cortical responses, induced by language activities, in a sub-acute stroke patient affected by conduction aphasia before and after an intensive speech therapy training. The patient was examined by using High-Density Electroencephalogram (HD-EEG) examination, while was performing language tasks. the patient was evaluated at baseline and after two months after rehabilitative treatment. Our results showed that an intensive rehabilitative process, i…

Clinical reappraisal of SHORT syndrome withPIK3R1mutations: toward recommendation for molecular testing and management

2015

SHORT syndrome has historically been defined by its acronym: short stature (S), hyperextensibility of joints and/or inguinal hernia (H), ocular depression (O), Rieger abnormality (R) and teething delay (T). More recently several research groups have identified PIK3R1 mutations as responsible for SHORT syndrome. Knowledge of the molecular etiology of SHORT syndrome has permitted a reassessment of the clinical phenotype. The detailed phenotypes of 32 individuals with SHORT syndrome and PIK3R1 mutation, including eight newly ascertained individuals, were studied to fully define the syndrome and the indications for PIK3R1 testing. The major features described in the SHORT acronym were not unive…

Building an Optimal WSD Ensemble Using Per-Word Selection of Best System

2006

In Senseval workshops for evaluating WSD systems [1,4,9], no one system or system type (classifier algorithm, type of system ensemble, extracted feature set, lexical knowledge source etc.) has been discovered that resolves all ambiguous words into their senses in a superior way. This paper presents a novel method for selecting the best system for target word based on readily available word features (number of senses, average amount of training per sense, dominant sense ratio). Applied to Senseval-3 and Senseval-2 English lexical sample state-of-art systems, a net gain of approximately 2.5 – 5.0% (respectively) in average precision per word over the best base system is achieved. The method c…

2019

During speech perception listeners rely on multimodal input and make use of both auditory and visual information. When presented with speech, for example syllables, the differences in brain responses to distinct stimuli are not, however, caused merely by the acoustic or visual features of the stimuli. The congruency of the auditory and visual information and the familiarity of a syllable, that is, whether it appears in the listener’s native language or not, also modulates brain responses. We investigated how the congruency and familiarity of the presented stimuli affect brain responses to audio-visual (AV) speech in 12 adult Finnish native speakers and 12 adult Chinese native speakers. They…