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Biomedical subjects

G Geoffroy

Publications and source records attributed to G Geoffroy.

At least 19 recordsLinked to original sources
PubMed2000

Adjunctive therapy with oxcarbazepine in children with partial seizures. The Oxcarbazepine Pediatric Study Group.

OBJECTIVE: To evaluate the safety and efficacy of oxcarbazepine (OXC) as adjunctive therapy in children with inadequately controlled partial seizures on one or two concomitant antiepileptic drugs (AEDs). BACKGROUND: OXC has shown antiepileptic activity in several comparative monotherapy trials in newly diagnosed patients with epilepsy, and in a placebo-controlled monotherapy trial in hospitalized patients evaluated for epilepsy surgery. DESIGN: A total of 267 patients were evaluated in a multicenter, randomized, placebo-controlled trial consisting of three phases: 1) a 56-day baseline phase (patients maintained on their current AEDs); 2) a 112-day double-blind treatment phase (patients received either OXC 30-46 mg/kg/day orally or placebo); and 3) an open-label extension phase. Data are reported only from the double-blind treatment phase; the open-label extension phase is ongoing. METHODS: Children (3 to 17 years old) with inadequately controlled partial seizures (simple, complex, and partial seizures evolving to secondarily generalized seizures) were enrolled. RESULTS: Patients treated with OXC experienced a significantly greater median percent reduction from baseline in partial seizure frequency than patients treated with placebo (p = 0.0001; 35% versus 9%, respectively). Forty-one percent of patients treated with OXC experienced a > or =50% reduction from baseline in partial seizure frequency per 28 days compared with 22% of patients treated with placebo (p = 0.0005). Ninety-one percent of the group treated with OXC and 82% of the group treated with placebo reported > or =1 adverse event; vomiting, somnolence, dizziness, and nausea occurred more frequently (twofold or greater) in the group treated with OXC. CONCLUSION: OXC adjunctive therapy administered in a dose range of 6 to 51 mg/kg/day (median 31.4 mg/kg/day) is safe, effective, and well tolerated in children with partial seizures.

Adolescent↗
PubMed2000

ERP differences in visual attention processing between attention-deficit hyperactivity disorder and control boys in the absence of performance differences.

Event-related potentials (ERPs) were recorded during a visual two-choice reaction time (RT) task in attention-deficit hyperactivity disorder (ADHD) and control boys selected using strict inclusion and exclusion criteria. No group differences were found in mean RT and correct responses. Although early occipital ERPs were not affected in the ADHD group, the peak latency of early anterior ERPs (N1, P1, N2) was significantly delayed. ADHD showed a larger effect of stimulus type on the frontal negativity (N530) and the posterior late negativity (nSW) and a smaller effect of stimulus type on anterior N2 and posterior P3b amplitude. The development of N530 and P450 amplitude across blocks of five trials was analyzed using orthogonal polynomial trend analysis of variance software. In the control group, P450 amplitude to "frequent" stimuli reduced across blocks. In the ADHD group, N530 amplitude increased for "rare" stimuli across blocks. It is suggested that the ADHD group showed a lack of automatization of the categorization process with increasing time on task for which they compensated by controlled attentional processes.

Attention↗
PubMed1999

Genetic locus heterogeneity in Lafora's progressive myoclonus epilepsy.

In 1995, we mapped a gene for Lafora's progressive myoclonus epilepsy in chromosome 6q23-25. In 1997 and 1998, we reduced the size of the locus to 300 kb, and an international collaboration identified mutations in the protein tyrosine phosphatase gene. Here, we examine for heterogeneity through the admixture test in 22 families and estimate the proportion of linked families to be 75 to 85%. Extremely low posterior probabilities of linkage (Wi), exclusionary LOD scores, and haplotypes identify 4 families unlikely to be linked to chromosome 6q24.

Chromosomes, Human, Pair 6↗
PubMed1999

Stroke-like episodes in autosomal recessive cytochrome oxidase deficiency.

Stroke-like episodes, defined as periods of acute localized neurological dysfunction during which brain imagery suggests cerebral ischemia but vascular anatomy is normal, occurred in 3 patients with autosomal recessive Saguenay-Lac St-Jean (SLSJ) cytochrome oxidase (COX) deficiency. The patients developed focal neurological deterioration and frontal hypodensities on cerebral computerized tomography (CT). Arteriography, performed in 1 patient during an acute episode, showed normal vascular anatomy. Nevertheless, capillary shunting was evident both in regions that appeared abnormal on the initial cerebral CT study and in regions that appeared normal but subsequently developed Leigh disease. Stroke-like episodes did not exacerbate systemic acidosis, and acidotic decompensations occurred independently of stroke-like episodes. In conclusion, stroke-like episodes occur in autosomal recessively inherited congenital lactic acidoses as well as in those caused by mitochondrial DNA mutations. In some cases, acute localized neurovascular changes occur in regions that subsequently develop Leigh disease.

Brain↗
PubMed1996

Mania in children.

Explore the source record for details and available documents.

Attention Deficit Disorder with Hyperactivity↗
PubMed1995

Case study: dreamy state and temporal lobe dysfunction in a migrainous adolescent.

Symptoms of migraine can be very atypical during childhood and adolescence. This article describes a case in which the symptoms of migraine were mainly psychiatric: dreamy state, intermittent confusion, partial amnesia, and childlike regressive behavior with depressive features. Although the results from neurological examinations and electroencephalographic recordings were normal when the individual was symptomatic or not, temporal lobe dysfunction, determined by 99mTc-hexamethyl-propyleneamine oxamine single-photon emission computed tomography, was evident during the migraine.

Adolescent↗
PubMed1994

Sound localization in hemispherectomized patients.

In order to precisely evaluate the consequences of cortical damage on free-field sound localization in humans, the present study examined response accuracy to auditory targets in three hemispherectomized patients and IQ-matched controls. Listeners reported sound location by pointing with their dominant hand to the apparent sound location in an anechoic chamber. Two conditions were tested: (i) localization of a fixed-sound source and (ii) localization of the beginning and the end of a simulated moving stimulus. In both conditions, the responses of the patients were less accurate than those of the controls in the hemifield contralateral to their removed hemisphere. Moreover, the single-case analyses revealed that the performances obtained with fixed sources were generally more precise than those obtained with moving sources. This result is discussed in terms of a differential involvement of cortical and subcortical pathways in the processing of stationary and moving sounds. Finally, the age at surgery and the post-surgical interval were related with the magnitude of the deficits, suggesting the possible influences of functional reorganization and cerebral plasticity.

Adolescent↗
PubMed1992

Paediatric myelography with iohexol.

32 paediatric patients requiring myelography were studied with iohexol 210 mgI/ml (n = 15) and iohexol 180 mgI/ml (n = 17). Visualization was good or excellent in over 90% of the group receiving the higher concentration and in over 83% of the lower. There were no side effects in either group and vital signs were not significantly altered during the procedure. In the majority of patients (14/18) who had CT, additional diagnostic information was obtained. Iohexol 180 mgI/ml is preferred for routine use, but 210 mgI/ml may give superior visualization with no apparent added risk. Procedural technique and good communication with the patients and their families may have contributed to the absence of side effects.

Child↗
PubMed1992

Neurological findings in HIV-infected children: a review of 49 cases.

Many HIV-infected children have neurological involvement. We present our observations in 49 cases, 58% of which had some form of clinical neurological impairment. Most of the patients affected (71%) presented with progressive encephalopathy, characterized by developmental delay with loss of acquisitions and cognitive decline, an impaired growth curve, microcephaly and corticospinal dysfunction. CT-scan imaging shows cerebral atrophy in all cases and basal ganglia calcifications in 29%. Non-specific abnormalities are found on the EEG in two-thirds of cases and in the CSF in slightly less than half the cases. Pathological studies sometime revealed HIV encephalitis or lateral corticospinal tracts degeneration. Neurological impairment secondary to vascular events, neoplasms or opportunistic infections were rare, especially when compared with the adult HIV population.

AIDS Dementia Complex↗
PubMed1991

Absence of disconnexion syndrome in callosal agenesis and early callosotomy: brain reorganization or lack of structural specificity during ontogeny?

Four acallosal subjects, one child, aged 5, and three adults, as well as five epileptic patients who underwent callosotomy between the ages of 6-21 years, were tested on a variety of intra- and intermanual tasks in a study aimed at elucidating the developmental aspects of callosal plasticity. The performance of the clinical sample was compared to that of 48 normal children, aged 5-12 years, an age span generally considered to coincide with the final stages of callosal maturation. As previously reported, interhemispheric integration improved with increasing age in the normal sample. The two patients having undergone callosotomy in childhood performed as well as their normal peers, whereas the three others who had the operation in late adolescence or adulthood showed the typical disconnexion deficits reported in the literature. The acallosal subjects, including the youngest one, outperformed all groups. We speculate that the remarkable plasticity seen in the acallosals and the young callosotomized patients may be related to a critical period in development coinciding with a phase of synaptic overproduction and redundancy that would favor the reinforcement of alternative neural pathways. The compensatory mechanisms appear to become more limited in late adolescence when synaptic distribution presumably assumes adult patterns.

Adolescent↗
PubMed1991

Auditory lateralization for speech in language-impaired children.

The ability of five language-impaired (LI) children and five matched controls, aged 7-10 years, to discriminate natural pairs of consonant-vowel syllables contrasted on place of articulation and voicing, presented to the right or left ear with white noise in the contralateral ear, was investigated. The general pattern of errors indicated that LI children had more difficulty than controls in discriminating place of articulation contrasts only when they were presented to the left ear, as well as a difficulty in discriminating voice contrasts selective to the right ear. The results are discussed in terms of acoustic integration and suggest that bihemispheric dysfunction is a basis for specific language impairment.

Aphasia↗
PubMed1988

Extent and limits of cerebral adjustment to early section or congenital absence of the corpus callosum.

The ability to effect inter- and intrahemispheric comparisons of visual and tactile stimuli was studied in 4 callosotomized patients and 6 callosal agenesis subjects using response accuracy and response times to determine the extent of cerebral adjustment to functional or congenital absence of the corpus callosum. The visual tasks involved within- and between-fields presentation of pairs of colours and shapes. The tactile tasks required uni- and bimanual comparisons of 3 categories of stimuli (size, shape and texture) of increasing difficulty. Older callosotomized children showed disconnection deficits similar to those reported in adult split-brain patients, whereas both acallosal subjects and our youngest patient with complete callosal transection demonstrated a high level of accuracy in the interhemispheric tasks. However, all patients required considerably more time to accomplish the cross-integration of relatively complex visual and tactile information which seems to be one of the major limitations of the compensatory mechanisms. The results also indicate that the quality of transfer differs between the acallosal and early-callosotomized patients in relation to the sensory modality studied. Thus, visual cross-matching was found to be superior to bimanual matching for the callosotomized group, whereas intermanual comparisons proved to be more efficient than visual integration in the acallosals. These divergent findings suggest not only that different compensatory mechanisms may be operating in visual and tactile transfer, but also that the same mechanisms may be utilized differently by the two populations deprived of the use of callosal connections.

Adolescent↗
PubMed1986

Clinical heterogeneity in cobalamin C variant of combined homocystinuria and methylmalonic aciduria.

We describe two patients with methylmalonic aciduria and homocystinuria (Cbl C). The disorder was not diagnosed in patient 1 until 4 1/2 years of age; he had a history of fatigue, anorexia, delirium, and spasticity. Moderate megaloblastic bone marrow changes were observed, and there was hyperreflexia of the lower limbs. His condition improved clinically with hydroxycobalamin therapy. Patient 2 was hospitalized at 6 weeks of age because of lethargy and poor feeding. She was found to have macrocytosis. Despite an initial good clinical response to hydroxycobalamin, she developed a striking pigmentary retinopathy. Methylmalonic aciduria persisted in both patients, and homocystinuria persisted in patient 1 despite therapy. The diagnosis of Cbl C disease has been confirmed in both patients by biochemical studies of cultured fibroblasts, including complementation studies. The differences in age of onset and clinical findings together with the similar biochemical findings in these two patients demonstrate the heterogeneity of phenotypic expression in patients with apparently identical abnormalities of vitamin B12 metabolism.

Amino Acid Metabolism, Inborn Errors↗
PubMed1986

Effects of early and late transection of the corpus callosum in children. A study of tactile and tactuomotor transfer and integration.

Five children, aged 6 to 16 years, were tested for unilateral discrimination and interhemispheric transfer of tactile information as well as tactuomotor learning at various intervals before and after therapeutic callosotomy. Comparison of preoperative and postoperative capacities revealed that younger children are considerably less affected by the interruption of callosal transmission than older children. Bilateral organization of speech and participation of the anterior commissure can largely be excluded as possible compensatory mechanisms. The most plausible explanation for the excellent preservation of interhemispheric integration of tactile functions in the younger patients appears to be continued reliance on ipsilateral pathways. The relatively greater deficits observed in the older children, on the other hand, suggest that sensorimotor functions come to depend more extensively on contralateral pathways as the corpus callosum reaches functional maturity.

Adolescent↗
PubMed1984

Origin of Friedreich's disease in Quebec.

We have been able to trace 40 cases of classical Friedreich's disease from 14 previously unrelated French Canadian kindreds to one common ancestral couple arriving in New France in 1634: Jean Guyon and Mathurine Robin. One member of this couple presumably introduced one gene for Friedreich's disease into the French Canadian population. This gene has now been traced over 12 generations to both parents of the present cases. We plan to use this knowledge to study the spectrum of clinical manifestations of this gene and to carry out gene chromosomal localization studies, using the techniques of linkage and of molecular biology. Such studies in rare autosomal recessive disorders have previously been judged to be almost impossible.

Female↗
PubMed1984

A progressive neurological syndrome associated with an isolated vitamin E deficiency.

Several authors have recently reported a neurological disorder associated with chronic vitamin E deficiency in man. Except in one patient, this deficiency has always been secondary to an underlying disease resulting in lipid malabsorption. We report a second case of such a neurological syndrome in a patient in whom vitamin E deficiency was an isolated finding. The clinical picture in our patient was characterized by a diffuse muscle weakness most prominent distally and in the lower limbs, generalized areflexia, a decrease in proprioception and vibration sense and slight limb and gait ataxia. His condition improved on alpha tocopherol therapy so that it is very likely that vitamin E deficiency is responsible for his neurological deficit. Since in our patient as well as in several other reported cases this condition has been treatable, it is important that this syndrome be recognized in children presenting a suggestive clinical picture even if they do not have lipid malabsorption.

Ataxia↗