Search results for "peech disorder"

Three de novo losses and one insertion within a pericentric inversion of chromosome 6 in a patient with complete absence of expressive speech and red…

2008

A 32-year-old female patient, observed for 30 years because of a distinctive phenotype consisting of a dysmorphic face non-progressive deficit of motor control, lack of speech development, reduced sensitivity to pain, with a known, complex interstitial deletion 6q14 within a de novo pericentric inversion 6p11.2;q15, was re-examined at the molecular level. Applying the Infinium HumanHap300 BeadChip array and BAC-based FISH we found two new non-contiguous microdeletions in addition to the one detected previously by high resolution G-band analysis. A 360 kb loss in band 6p12.3, containing the genes RHAG, CRISP1, 2, and 3, and PGK2, a 1.15 Mb loss in 6p12.2-p12.1, containing the genes PKHD1, IL…

Factors associated with poor functional outcome in bipolar disorder: sociodemographic, clinical, and neurocognitive variables.

2018

Objective: The current investigation aimed at studying the sociodemographic, clinical, and neuropsychological variables related to functional outcome in a sample of euthymic patients with bipolar disorder(BD) presenting moderate-severe levels of functional impairment. Methods: Two-hundred and thirty-nine participants with BD disorders and with Functioning Assessment Short Test(FAST) scores equal or above 18 were administered a clinical and diagnostic interview, and the administration of mood measure scales and a comprehensive neuropsychological battery. Analyses involved preliminary Pearson bivariate correlations to identify sociodemographic and clinical variables associated with the FAST t…

Characterization of BOLD-fMRI signal during a verbal fluency paradigm in patients with intracerebral tumors affecting the frontal lobe.

2002

Previous studies have indicated that the BOLD-fMRI signal can be modified by tumor processes in close vicinity to functional brain areas. This effect has been investigated primarily for the perirolandic area but there is only a limited number of studies concerning frontal cortical regions. Therefore, the aim of the current study was to characterize BOLD-fMRI signal and activation patterns in patients with frontal brain tumors while performing a verbal fluency task. Six patients (ages 31-56 years) suffering from frontal (5 left sided and 1 right sided) intracerebral tumors were examined with fMRI while performing a verbal fluency task in a blocked paradigm design. Eight healthy volunteers se…

Understanding metaphors and idioms: A single-case neuropsychological study in a person with Down syndrome

2001

The ability of subject F.F., diagnosed with Down syndrome, to appreciate nonliteral (interpreting metaphors and idioms) and literal (vocabulary knowledge, including highly specific and unusual items) aspects of language was investigated. F.F. was impaired in understanding both metaphors and idioms, while her phonological, syntactic and lexical–semantic skills were largely preserved. By contrast, some aspects of F.F.'s executive functions and many visuospatial abilities were defective. The suggestion is made that the interpretation of metaphors and idioms is largely independent of that of literal language, preserved in F.F., and that some executive aspects of working memory and visuospatial …

“Accent issue”: foreign accent syndrome following ischemic stroke

2019

Background: Foreign accent syndrome (FAS) is arare syndrome associated with altered speech rhythm and prosody, which listeners perceive as foreign; cerebrovascular accidents, tumors and multiple sclerosis are reported as possible causes of FAS. The pathophysiology of FAS is not yet understood. Case presentation: A 68-year-old Italian man was admitted to the EmergencyDepartment for non-fluent aphasia and dysarthria. Computed tomography (CT) scan did not show abnormalities; the patient was treated with systemic thrombolysis. A repeated brain CT and magnetic resonance imaging (MRI) confirmed an infarct in the left primary motor cortex and mild extension to cortico-subcortical frontal regions. …

[The importance of socio-cultural factors for the development of speech and language].

2004

Factors determining the efficiency of logopaedic care of children in Poland.

2000

The purpose of this article is to establish factors which determine the efficiency of the system of care provided to children with speech disorders attending regular schools and kindergartens. The analysis was made using Poland as an example, which, similar to other countries, has made some achievements in this matter. Although Poland has had an institutionalised care system for children with speech development anomalies for 30 years, the problem of speech disorders is still very difficult to solve. Due to the large scale of the phenomenon among Polish children, this problem can be defined as a social problem in this country. The above-described situation makes it necessary to search for me…

Apathy and Reduced Speed of Processing Underlie Decline in Verbal Fluency following DBS

2017

Objective. Reduced verbal fluency is a strikingly uniform finding following deep brain stimulation (DBS) for Parkinson's disease (PD). The precise cognitive mechanism underlying this reduction remains unclear, but theories have suggested reduced motivation, linguistic skill, and/or executive function. It is of note, however, that previous reports have failed to consider the potential role of any changes in speed of processing. Thus, the aim of this study was to examine verbal fluency changes with a particular focus on the role of cognitive speed. Method. In this study, 28 patients with PD completed measures of verbal fluency, motivation, language, executive functioning, and speed of process…

The Aromatase Gene CYP19A1: Several Genetic and Functional Lines of Evidence Supporting a Role in Reading, Speech and Language

2012

Inspired by the localization, on 15q21.2 of the CYP19A1 gene in the linkage region of speech and language disorders, and a rare translocation in a dyslexic individual that was brought to our attention, we conducted a series of studies on the properties of CYP19A1 as a candidate gene for dyslexia and related conditions. The aromatase enzyme is a member of the cytochrome P450 super family, and it serves several key functions: it catalyzes the conversion of androgens into estrogens; during early mammalian development it controls the differentiation of specific brain areas (e.g. local estrogen synthesis in the hippocampus regulates synaptic plasticity and axonal growth); it is involved in sexua…

Is a specialised training of phonological awareness indicated in every preschool child?

2008

<i>Objective and Methods: </i>In a prospective study 218 preschool children were enrolled (stratified in 2 training programs, one specialized for phonologic awareness in order to prevent dyslexia, the other consisting in training of general perception) during the last year of kindergarten. After finishing the first grade 131 children were compared in their reading and writing abilities.<i> Results: </i>In the whole group only a slight difference was found between both training modalities concerning their writing abilities. However, children with a history of hearing loss, actual hearing loss or pathologic middle ear findings profited most from the specialized trainin…