Search results for "Psychomotor disorder"

A further patient with genitopatellar syndrome requiring multidisciplinary management.

2020

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…

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.

Early age of onset, brain morphological changes and non-consistent motor asymmetry in schizophrenic patients.

1999

Previous data suggest abnormalities in the consistence of motor dominance in schizophrenia (e.g. mixed-handedness, poor correlation between hand, eye and foot preferences and an increase of hand-eye crossed dominance). The aim of this work is to examine the clinical significance of hand-eye and hand-foot crossed dominance in a sample of 61 right-handed schizophrenic patients. The application of multivariate analysis revealed that 23 right-handed and non-right-eyed patients (crossed hand-eye dominant group) had a significant earlier clinical onset and smaller brain size, global and frontal area, than 38 right-handed and right-eyed schizophrenics (consistent hand-eye dominance group). These f…

La rétropulsion du sujet âgé: mise au point sur un symptôme grave et proposition d'une échelle pour une évaluation quantifiée

2007

Resume Propos Bien qu'il n'existe a l'heure actuelle aucune donnee epidemiologique sur la retropulsion, ce trouble postural semble relativement frequent chez le sujet âge fragile. Actualites et points forts La retropulsion se caracterise par un dejettement posterieur du tronc en position assise, une insuffisance d'avancee du tronc dont la projection du tronc au sol est situee en arriere de la base de sustentation lors du passage assis–debout et une tendance a la chute en arriere en position debout. Plusieurs situations pathologiques aussi bien somatiques (lesions cerebrales degeneratives, ischemiques, traumatiques), que psychosomatiques (syndrome de desadaptation psychomotrice, alitement pr…

Prenatal and postnatal insecticide use and infant neuropsychological development in a multicenter birth cohort study

2013

There is little evidence about exposure to currently used insecticides during early life periods and adverse effects on child neuropsychological development. The aim of this study is to examine the association between residential insecticide use during pregnancy and infancy, and the development of children.Study subjects were participants in the INMA (Environment and Childhood) Project, a Spanish multicenter birth cohort study. Prenatal and postnatal use of indoor insecticides and other variables were obtained from personal interview during pregnancy and infancy. Mental and psychomotor development was assessed around 14 months using the Bayley Scales of Infant Development. The associations …

Neurocognitive functioning in children with type-1 diabetes with and without episodes of severe hypoglycaemia

2007

Previous studies have shown that recurrent severe hypoglycaemia can cause long-term cognitive impairment in children with type-1 diabetes, but the results are controversial, possibly due to the heterogeneity of samples and lack of comprehensive neuropsychological assessments of children. The aim of this study was to assess the effects of diabetes and severe hypoglycaemia on the neurocognitive functioning of children with a standardized, wide age-range neuropsychological test battery designed for the assessment of children. Eleven children with diabetes and a history of severe hypoglycaemia, 10 children with diabetes without a history of severe hypoglycaemia, and 10 healthy control children …

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…

High sensitivity of northern pike larvae to UV-B but no UV-photoinduced toxicity of retene

2003

In order to investigate whether increased UV-B radiation is a risk factor, a series of acute laboratory experiments was conducted with larval stages of the northern pike (Esox lucius L.), hatching in Nordic waters in May. Further, a comparative investigation on the acute phototoxicity of retene (7-isopropyl-1-methylphenanthrene), a PAH compound recently revealed to posses UV-B-induced phototoxicity in larval coregonids, was conducted with pike larvae. In semi-static experiment, larvae were pre-exposed to retene (3, 9, 30 and 82 microg/g), with relevant controls, for 24 h and then irradiated for 3 h once a day (two consecutive days) with three UV-B doses (CIE-weighted 1.0, 1.8 or 2.7 kJ/m2 p…