Search results for "Motor retardation"
showing 10 items of 13 documents
Novel Mutations in the NKX2.1 gene and the PAX8 gene in a Boy with Brain-Lung-Thyroid Syndrome
2017
Abstract Objective To elucidate the molecular mechanism which causes thyroid dysgenesis (TD) in a boy with brain-lung-thyroid syndrome. Design, patients, measurements We describe a patient with TD, respiratory disease and cerebral palsy who is heterozygous for mutations in two different genes, the PAX8 (p.E234K) and the NKX2.1 (p.A329GfsX108). In vitro studies were performed to functionally characterize these mutations. Congenital hypothyroidism (CH) was identified by neonatal screening associated with a hypoplastic thyroid gland. Postpartum he developed a brain-lung-thyroid syndrome with severe respiratory failure, symptomatic epilepsy and a considerable psychomotor retardation. The DNA-bi…
2014
Background: Motor imagery is a potential tool to investigate action representation, as it can provide insights into the processes of action planning and preparation. Recent studies suggest that depressed patients present specific impairment in mental rotation. The present study was designed to investigate the influence of unipolar depression on motor imagery ability.Methods: Fourteen right-handed patients meeting DSM-IV criteria for unipolar depression were compared to fourteen matched healthy controls. Imagery ability was accessed by the timing correspondence between executed and imagined movements during a pointing task, involving strong spatiotemporal constraints (speed/accuracy trade of…
Array CGH defined interstitial deletion on chromosome 14: a new case
2009
Interstitial deletions of the long arm of chromosome 14 are relatively rare. We report a 8.5-year-old girl with dysmorphic facial features and mental retardation associated with a de novo interstitial deletion of chromosome 14. The comparison between our patient and all published patients is reviewed. The genetic investigations have allowed us to define the critical chromosomal region and to start an accurate follow-up.
Lexical decision tasks in depressive patients: semantic priming before and after clinical improvement.
2002
SummaryThis study was designed to evaluate the effect of semantic priming with a lexical decision task in 22 depressed patients (DSM-III-R, 1987) and 30 control subjects. These patients were evaluated twice: first when they arrived at the hospital, and secondly, after clinical improvement. Clinical improvement was evaluated using standard depression rating scales. A lexical decision task involving semantic relations (related vs. unrelated, e.g., apple-pear) was used to evaluate the processing of semantic information. The results showed that, for the first evaluation, the depressives presented similar semantic priming to control subjects. When we compared semantic priming in the first and th…
Are ratings of psychomotor retardation correlated with neuropsychological measurements?
1989
The present study investigated the correlation between retardation, assessed by the Bech-Rafaelsen Melancholia Scale (BRMS), and measurements of reaction time and motor performance in 26 elderly depressed patients. Significant correlations were only detected between motor retardation and the number and duration of faults in the line following part of the motor performance test. The total scores of the BRMS and the Hamilton Depression Scale did not correlate significantly with any of the performed measurements.
A new heterozygous mutation (L338N) in the human Gsalpha (GNAS1) gene as a cause for congenital hypothyroidism in Albright's hereditary osteodystroph…
2003
OBJECTIVE: To identify the molecular defect by which psychomotor retardation is caused in two brothers with congenital hypothyroidism who received adequate treatment with l-thyroxine. CASE REPORT: A six-year-old boy presented with psychomotor retardation and congenital primary hypothyroidism (CH). The patient had a normal blood thyrotrophin (TSH) level on neonatal screening, but low total serum thyroxine and triiodothyronine concentrations prompting thyroid hormone substitution shortly after birth. Nevertheless, psychomotor development was retarded and the patient underwent further investigation. Typical features of Albright's hereditary osteodystrophy (AHO) such as round face, obesity, and…
Motor imagery in unipolar major depression
2014
International audience; Background: Motor imagery is a potential tool to investigate action representation, as it can provide insights into the processes of action planning and preparation. Recent studies suggest that depressed patients present specific impairment in mental rotation. The present study was designed to investigate the influence of unipolar depression on motor imagery ability. Methods: Fourteen right-handed patients meeting DSM-IV criteria for unipolar depression were compared to 14 matched healthy controls. Imagery ability was accessed by the timing correspondence between executed and imagined movements during a pointing task, involving strong spatiotemporal constraints (spee…
Relationships between psychomotor retardation and EEG power spectrum in major depression.
1992
In 63 depressed patients, the associations between severity of depression, psychomotor retardation, assessed by the Bech-Rafaelsen Melancholia Scale, and EEG spectral analysis were examined. Slow EEG activity (theta 2/alpha 1 bands) was positively and fast activity (alpha 3/beta bands) negatively correlated with the observed retardation. Out of the four retardation subitems (motor, verbal, intellectual and emotional), motor retardation was closest correlated with slow EEG activity.
Influence of Transcranial Direct Current Stimulation on Psychomotor Symptoms in Major Depression
2020
Background: Transcranial direct current stimulation (tDCS) applied to the left dorsolateral prefrontal cortex (dlPFC) might be a promising treatment strategy for depression. As disturbances in psychomotor activity are one of the key features of unipolar depression are, we aimed to evaluate the behavioral effects of ten tDCS sessions over a 5-day period on psychomotor retardation in depressed patients. Methods: Twenty-three treatment-resistant depressed patients received either active or sham anodal tDCS to the left dorsolateral prefrontal cortex (2 mA, 10 sessions over 1 week). Psychomotor functioning was registered by means of observer ratings (Salpê
Motor Resonance Mechanisms during Action Imitation in Depression
2018
Objectives Major depressive disorder has been associated with impairments in social cognition. However, studies exploring the processing of social information focused on facial discrimination. The aim of this study was to better characterize the sensorimotor mechanisms underlying motor resonance in depressed patients. Method Twenty-three right-handed patients meeting DSM-IV criteria for unipolar depression were compared to 14 matched healthy controls. In a simple imitation paradigm, the kinematic features of movements in natural condition were compared to those of motions performed after the observation of a moving dot. Reaction time and pointing velocity were considered to evaluate if the …