Search results for " neuropsychology."
showing 10 items of 65 documents
Two distinct phenotypes, hemiplegic migraine and episodic Ataxia type 2, caused by a novel common CACNA1A variant
2020
Abstract Background To investigate the genetic and environmental factors responsible for phenotype variability in a family carrying a novel CACNA1A missense mutation. Mutations in the CACNA1A gene were identified as responsible for at least three autosomal dominant disorders: FHM1 (Familial Hemiplegic Migraine), EA2 (Episodic Ataxia type 2), and SCA6 (Spinocerebellar Ataxia type 6). Overlapping clinical features within individuals of some families sharing the same CACNA1A mutation are not infrequent. Conversely, reports with distinct phenotypes within the same family associated with a common CACNA1A mutation are very rare. Case presentation A clinical, molecular, neuroradiological, neuropsy…
Increase of Substance P Concentration in Saliva after Pharyngeal Electrical Stimulation in Severely Dysphagic Stroke Patients – an Indicator of Decan…
2017
Background/Aims: Substance P (SP) is a neuropeptide, likely acting as a neurotransmitter in the pharyngeal mucosa enhancing the swallow and cough reflex. Pharyngeal Electrical Stimulation (PES) induces a temporary increase of salivary SP levels in healthy adults. Previous evidence suggests that post-stroke dysphagia is related to reduced SP levels. Here, we investigated the effects of PES on SP levels in severely dysphagic stroke patients and a possible link between increase of SP and treatment success. Methods: 23 tracheotomized stroke patients who could not be decannulated due to severe and persisting dysphagia according to endoscopic evaluation received PES for 10 minutes a day over thre…
Statistical language learning in neonates revealed by event-related brain potentials
2009
Abstract Background Statistical learning is a candidate for one of the basic prerequisites underlying the expeditious acquisition of spoken language. Infants from 8 months of age exhibit this form of learning to segment fluent speech into distinct words. To test the statistical learning skills at birth, we recorded event-related brain responses of sleeping neonates while they were listening to a stream of syllables containing statistical cues to word boundaries. Results We found evidence that sleeping neonates are able to automatically extract statistical properties of the speech input and thus detect the word boundaries in a continuous stream of syllables containing no morphological cues. …
Subclinical executive function impairment in children with asymptomatic, treated phenylketonuria: A comparison with children with immunodeficiency vi…
2018
In this study we compared the neuropsychological profile of phenylketonuria (PKU) and human immunodeficiency virus (HIV) to examine the specificity of the executive function (EF) impairment reported in these two patologies. A total of 55 age-matched children and adolescents were assessed, including 11 patients with PKU, 16 patients with HIV and 28 healthy controls, underwent a neuropsychological assessment. Although neither the PKU nor the HIV group scored below the normative ranges, both groups showed lower scores in neuropsychological tests engaging EFs than controls. In addition, compared to patients with PKU the HIV group performed significantly worse in the Trail-Making Test A, Corsi S…
Modality-independent recruitment of inferior frontal cortex during speech processing in human infants
2018
Despite increasing interest in the development of audiovisual speech perception in infancy, the underlying mechanisms and neural processes are still only poorly understood. In addition to regions in temporal cortex associated with speech processing and multimodal integration, such as superior temporal sulcus, left inferior frontal cortex (IFC) has been suggested to be critically involved in mapping information from different modalities during speech perception. To further illuminate the role of IFC during infant language learning and speech perception, the current study examined the processing of auditory, visual and audiovisual speech in 6-month-old infants using functional near-infrared s…
Cerebral lateralisation during signed and spoken language production in children born deaf
2019
Highlights • Children born deaf show typical left-hemisphere dominance during language production. • No evidence of an association between left-lateralisation and language proficiency. • Exposure to auditory speech via a cochlear implant is not a prerequisite for left hemisphere language dominance.
Temporal abnormalities in children with developmental dyscalculia.
2012
Recent imaging studies have associated Developmental dyscalculia (DD) to structural and functional alterations corresponding Parietal and the Prefrontal cortex (PFC). Since these areas were shown also to be involved in timing abilities, we hypothesized that time processing is abnormal in DD. We compared time processing abilities between 10 children with pure DD (8 years old) and 11 age-matched healthy children. Results show that the DD group underestimated duration of a sub-second scale when asked to perform a time comparison task. The timing abnormality observed in our DD participants is consistent with evidence of a shared fronto-parietal neural network for representing time and quantity.…
Time processing in children with Tourette's syndrome.
2010
Background: Tourette syndrome (TS) is characterized by dysfunctional connectivity between prefrontal cortex and sub-cortical structures, and altered meso-cortical and/or meso-striatal dopamine release. Since time processing is also regulated by fronto-striatal circuits and modulated by dopaminergic transmission, we hypothesized that time processing is abnormal in TS. Methods: We compared time processing abilities between nine children with TS-only (i.e. without major psychiatric comorbidities) and 10 age-matched healthy children, employing a time reproduction task in which subjects actively reproduce different temporal intervals, and a time comparison task in which subjects judge whether a …
When the amnestic mild cognitive impairment disappears: characterisation of the memory profile
2009
BACKGROUND/OBJECTIVES: Subjects affected by mild cognitive impairment (MCI) may improve during the observation period. This is the first study investigating qualitative features of memory deficits in subjects affected by reversible MCI [reversible cognitive impairment (RCI)]. METHODS: Baseline cognitive and memory performances of 18 subjects affected by amnestic MCI who had normalized cognitive performances at follow-ups were compared with those of 76 amnestic MCI subjects who still showed impaired cognitive performances at the 24-month follow-up (MCI) and with those of a group of 87 matched control subjects (normal controls). RESULTS: Compared with normal controls the memory deficit in the…
Physical activity, aerobic fitness, and brain white matter : Their role for executive functions in adolescence
2020
Highlights • Aerobic fitness level, but not physical activity, is related to white matter properties in the brain. • The relation between physical activity and working memory is moderated by fractional anisotropy (FA) of the corpus callosum. • The FA of the corpus callosum and superior corona radiata moderates the relation between aerobic fitness and working memory.