Search results for "Motor disorder"
showing 10 items of 31 documents
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.
Chondrodysplasia punctata — Rhizomelic form
1976
Pathologic, ultrastructural and radiologic studies are described on 3 infants with the rhizomelic form of chondrodysplasia punctata. Radiologic criteria in the young infant include radiolucent coronal clefts dividing all or most of the thoracic and lumbar vertebral bodies, short humeri with flared metaphyses and punctate calcifications commonly present adjacent to the ossified ischial and pubic bones and less commonly in other locations. In late infancy and childhood the radiologic criteria include demineralization in all bones with slow maturation, flat vertebral bodies, short humeri and femora, metaphyseal flaring, especially in the distal humerus, proximal femur and proximal tibia, immat…
Purkinje cell loss and motor coordination defects in profilin1 mutant mice.
2012
Profilin1 is an actin monomer-binding protein, essential for cytoskeletal dynamics. Based on its broad expression in the brain and the localization at excitatory synapses (hippocampal CA3-CA1 synapse, cerebellar parallel fiber (PF)-Purkinje cell (PC) synapse), an important role for profilin1 in brain development and synapse physiology has been postulated. We recently showed normal physiology of hippocampal CA3-CA1 synapses in the absence of profilin1, but impaired glial cell binding and radial migration of cerebellar granule neurons (CGNs). Consequently, brain-specific inactivation of profilin1 by exploiting conditional mutants and Nestin-mediated cre expression resulted in a cerebellar hyp…
La cineradiografia digitale nella diagnosi e nel trattamento chirurgico dei disordini motori della giunzione faringo-esofagea
2004
The aim of the study was to report our experience with the use of radiology in functional disorders of the cricopharyngeal muscle and their surgical therapy using digital cineradiology. Five-hundred and seventy dysphagic patients underwent dynamic study of the oral and pharyngeal phases of swallowing (Videofluoroscopic Swallowing Study, VFSS). A motor disorder of the cricopharyngeal muscle was diagnosed by videofluorography in 19 patients: the disorder was mild in 8, moderate in 7 and severe in 4. Two of these underwent cricopharyngeal myotomy, with an improvement in their dysphagia and swallowing mechanisms. VFSS provides a morphological and functional view of the aero-digestive tracts: th…
Syndrome de désadaptation psychomotrice
2007
Resume Propos Nous decrivons le syndrome de desadaptation psychomotrice et rapportons les recentes avancees concernant sa physiopathologie et sa therapeutique. Il y a 20 ans, l'equipe du Pr Gaudet le decrivait sous l'appellation « syndrome de regression psychomotrice » avant d'etre rebaptise sous sa nouvelle denomination a la fin des annees 1990. Actualites et points forts Le syndrome de desadaptation psychomotrice represente une decompensation de la fonction posturale, de la marche et des automatismes psychomoteurs, liee a une perturbation de la programmation posturomotrice suite a une deterioration des structures sous-corticofrontales. Il associe des troubles posturaux (retropulsion), des…
Assessment of cardiac autonomic nervous activity in frail elderly people with postural abnormalities and in control subjects
2008
Heart rate variability (HRV), which is considered to reflect the activity of the autonomic nervous system (ANS), has been shown to decline with age. The aim of the present study was to explore cardiac ANS in older patients showing frontal-subcortical dysfunction with "Psychomotor Disadaptation Syndrome" (PDS), through the 24-h HRV. We enrolled 14 patients with PDS (mean age: 84.5+/-6.9 years), they were compared to 13 frail control subjects (mean age: 80.6+/-6.7 years). Cardiac ANS activity was assessed by 24-h ECG recordings from three leads with a Holter digital monitor. The decrease in cardiac ANS activity observed in PDS subjects was greater than the alteration found in normally aging s…
Multidisciplinary management in geriatric day-hospital is beneficial for elderly fallers: A prospective study of 28 cases
2005
We determined whether management including medical, psychological, and physiotherapeutic approaches, over a period of 6 weeks, has a beneficial effect on motor abilities, psychological status, and independence of elderly fallers with psychomotor disadaptation syndrome (PDS). We included 28 subjects (mean age 81.4 years). They were assessed from a medical, motor, and psychological point of view at both the inclusion and the end of the multidisciplinary intervention. A follow-up was conducted with multidisciplinary assessment at 6 and 9 months after the beginning of the study in order to evaluate duration of benefits of the management. The statistical analysis concerned only subjects who took…
Analysis of postural control in elderly subjects suffering from Psychomotor Disadaptation Syndrome (PDS).
2009
PDS is a geriatric affliction, described in 1999, characterized by postural impairments, including backward disequilibrium, freezing, a deterioration in the ability to anticipate postural adjustments, anxiety and fear of falling, inducing loss of autonomy. This study compared 10 subjects suffering from PDS, aged 87.3+/-4.9 years, with 10 control subjects, aged 85.4+/-7.9 years concerning postural control (body sway amplitude). In all participants, postural control was assessed using the SwayStar system in natural (spontaneous) and standardized stances, eyes open and eyes closed over a period of 40 s. It was found that: (1) with eyes open, subjects with PDS showed greater body sway amplitude…
Two distinct pathways for Developmental Coordination Disorder: Persistence and resolution
2003
This article describes the perceptual motor, educational and social outcome of early motor delay in a group of 17-18 year old Finnish adolescents who were originally evaluated at age 5. The study group consisted of 65 adolescents: 22 with significant motor problems (or developmental coordination disorder, DCD), 23 with minor motor problems (intermediate group) and 20 controls. The goal of this study was to reassess the results obtained when they were age 15 and to determine whether the variables used earlier could still discriminate the adolescents at age 17. The results showed that at age 17 all perceptual motor tasks differentiated the three groups. The DCD group performed less well than …
Functional networks of motor inhibition in conversion disorder patients and feigning subjects
2016
The neural correlates of motor inhibition leading to paresis in conversion disorder are not well known. The key question is whether they are different of those of normal subjects feigning the symptoms. Thirteen conversion disorder patients with hemiparesis and twelve healthy controls were investigated using functional magnetic resonance tomography under conditions of passive motor stimulation of the paretic/feigned paretic and the non-paretic hand. Healthy controls were also investigated in a non-feigning condition. During passive movement of the affected right hand conversion disorder patients exhibited activations in the bilateral triangular part of the inferior frontal gyri (IFG), with a…