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Biomedical subjects

J Motte

Publications and source records attributed to J Motte.

At least 19 recordsLinked to original sources
PubMed2005

[Ifosfamide induced encephalopathy: 15 observations].

INTRODUCTION: Ifosfamide is an alkylating agent used in the treatment of germ-cell tumors, sarcomas and lymphomas. One of its main side effects is the encephalopathy of which the incidence may reach 30% in the literature, in adults and children just as well. OBJECTIVES: Based on both our experience and a review of the literature, we propose some recommendations for the management of this complication. PATIENTS AND METHODS: We report 15 encephalopathy cases in non-brain tumor patients, which occurred between January 1987 and March 2002 in children from 2 to 17 years old, treated for solid tumors at the Institut Gustave Roussy. Ifosfamide was administered at a posology between 5.4 and 15 g/m(2)/course, associated with other antimitotics such as actinomycin D, etoposide or vincristine. RESULTS: Six patients experienced a grade III neurological toxicity according to the NCI classification, which developed as excess drowsiness lasting up to 36 hours. Six other patients developed grade IV neurotoxicity, including two comas resolving within 4 days and four short generalized convulsions. Three other children experienced grade II drowsiness. Brain MRIs were normal and EEG showed an aspecific encephalopathy tracing. This early central neurotoxicity appeared right from the first administration, and occurred immediately after the first injection or during the second or third day of treatment. It was most often reversible, usually 3 to 5 days after the last ifosfamide administration. Five patients were administered a treatment with Methylene Blue with a demonstrable efficacy in only one case. No death or neurological sequelae have been noted. Ifosfamide has been renewed after the neurological accident in 7 of those patients. Only 1 of those 7 patients developed grade IV neurotoxicity during the next course of treatment. In 2 of those 7 children, Methylene Blue was used in a prophylactic way. No neurological disorders have been noted during the next courses of treatment. DISCUSSION: In the literature, the following are described as risk factors for ifosfamide encephalopathy: advanced pelvic disease, previous cisplatyl treatment and renal failure. We have not found any of these predisposing factors in our series, but three of the fifteen patients had severe neurotoxicity associated with Vincristin during previous treatments. CONCLUSION: Facing a clinical diagnosis of ifosfamide encephalopathy, it is recommended to discontinue administration of ifosfamide and inject by intravenous route 50 mg Methylene Blue every 4 hours until the symptomatology recedes. The re-challenge of Ifosfamide is not contra-indicated and should be performed under prophylactic treatment with Methylene Blue by intravenous route at the dose of 50 mg every 6 hours.

Adolescent↗
PubMed2005

[Acceptability and tolerance of sodium valproate, a new sustained-action granule formulation, in monotherapy for epileptic children from 3 years old].

UNLABELLED: Sodium valproate (VPA) is an anti-epileptic drug which was until now administered to children as drinkable or injectable form. A new galenic form of this compound has been developed as microgranules with prolonged release (Micropakine)LP; MPK). This new galenic form of VPA allows a greater stability of the plasmatic rates, thus limiting the risk of amount-dependent adverse effects at the time of the peaks, and of less effectiveness at the time of the fall of the circulating rates. The main objective of this study was to evaluate the acceptability of the new galenic form of VPA, in monotherapy, for epileptic children with >or=3 years old. The evaluation was performed at day (D)90 by the patients using a hedonic visual scale. The secondary objectives were to evaluate the acceptability by the parents, the treatment compliance, the percentage of patients free of seizure at D 90, and the tolerance. Finally, the authors compared all these data to those recovered at the baseline in patients already treated by the previous drinkable VPA. A total of 307 patients were involved by 76 hospital neuropediatric physicians. The population was constituted by 110 children <5 years old and 197 children from 5 to 14 years old. MPK was well accepted for total population at D 90 (<5 years old: 83.3%; >or=5 years old: 80%). For patients previously treated by drinkable form of VPA (N=199), MPK was significantly better accepted than the drinkable form at D1 (<5 years, P=0.0189; >or=5 years, P<0.0001). Less difficulties were experienced by the parents to administrate MPK when compared to the drinkable form (P<0.001), mainly due to his neutral taste. Patients free of seizure at D 90 were 77% [70,3; 82,5]. Specially, fewer epileptic seizures were evidenced for all children previously treated at D1 by drinkable form of VPA. The treatment was well respected by the patients, which were compliant in 80% of the cases. The adherence to treatment was good since the treatment compliance was 87%. MPK was well tolerated. CONCLUSION: MPK in the microgranule form significantly improves the treatment acceptability with a good tolerance. Two daily intakes and neutral taste are two major advantages to favour the compliance in children, thus contributing to the efficacy of the antiepileptic treatment.

Administration, Oral↗
PubMed2005

[Bilateral frontal polymicrogyria and Ehlers-Danlos syndrome].

The authors describe the case of a six-year-old girl with Ehlers-Danlos syndrome associated to bilateral symmetrical frontal polymicrogyria. Several extracellular matrix components, including collagen, are directly implicated in the neuronal migration. We think that a defect in collagen or in another extracellular matrix protein during fetal development could result in this association.

Child↗
PubMed2005

[Neonatal diagnosis of primary ciliary dyskinesia: report of one case].

Primary ciliary dyskinesia is a rare, genetic disorder resulting of an abnormal ultrastructural morphology of cilia. Such disease is rarely recognized in neonatal period. We report on a newborn who exhibited unexplained respiratory distress. The diagnosis of primary ciliary dyskinesia was suggested by the association of bilateral and multiple atelectasis and situs inversus. Diagnosis was confirmed by three months of age by ultrastructural study of cilia. Primary ciliary dyskinesia is a rare disease. Diagnosis should be considered in unexplained cases of neonatal respiratory distress, especially when situs inversus totalis and multiple atelectasis are present. Diagnosis requires ciliary studies that can be performed in newborn infants.

Ciliary Motility Disorders↗
PubMed2003

[Asperger syndrome in childhood: review of four cases].

INTRODUCTION: Asperger syndrome is a pervasive developmental disorder included lately in the international classifications. OBSERVATIONS: We report the observations of four children presenting this syndrome. For every patient, we collected antecedents and psychomotor development; we made neuropsychological assessment and video recording. Three patients underwent an EEG and one a cerebral MRI. RESULTS: These patients were between ten- and sixteen-year old. The neuropsychological assessment showed a heterogeneous intellectual functioning with three times out of four a dissociation between high verbal level and low non-verbal level. Their language appeared sophisticated, apragmatic, their comprehension was inflexible. The mean age at diagnosis was ten years. They showed a sociability and autonomy improvement but they were conscious of their difference and suffered from it. CONCLUSION: Our four cases allow to present Asperger syndrome, slightly known in France. Collaborative studies and genetic studies are necessary to improve the knowledge of this syndrome.

Adolescent↗
PubMed2002

The BREV neuropsychological test: Part I. Results from 500 normally developing children.

The Battery for Rapid Evaluation of Cognitive Functions (Batterie Rapide d'Evaluation des Fonctions Cognitives: BREV) was designed to provide health professionals with a quick clinical tool for screening acquired and developmental cognitive deficits in children aged 4 to 8 years. The BREV explores oral language in both its expressive and receptive forms, non-verbal functions, attention, verbal and visuo-spatial memory, and main learning acquisition. Results of the first phase of validation are presented in this report consisting of internal validity measurements gained by testing 500 normally developing school children (257 females, 243 males; mean age 6 years 7 months, SD 1 year 6 months. The validation provides appropriate values for each of the 17 subtests assessing cognitive functions (oral language, non-verbal abilities, attention and memory, educational achievement) in 10 age groups, from 4 to 8 years of age. All subtests with the same content for any age revealed values which increased significantly with age. Interreliability was tested in a retest for 70 children and scores obtained on retesting correlated significantly with initial values. The BREV is a reliable test with carefully established normative values, appropriate for preschool and school-age children.

Attention↗
PubMed2002

The BREV neuropsychological test: Part II. Results of validation in children with epilepsy.

The Battery for Rapid Evaluation of Cognitive Functions (Batterie Rapide d'Evaluation des Fonctions Cognitives: BREV) is a quick test to screen children with higher-functioning disorders and to define the patterns of their disorders. After standardization tests in 500 normally developing children aged 4 to 8 years, validation consisted of comparative evaluation of the specificity and sensitivity of the BREV with a wide reference battery in 202 children with epilepsy (108 males, 94 females; mean age 6 years 6 months, SD 1 year 8 months). Children were divided into 10 age groups from 4 to 8 years of age and represented eight epileptic syndromes. The reference battery included verbal and non-verbal intelligence assessment using the Wechsler scale, oral language assessment with a French battery for oral language study, drawing with the Rey figure, verbal and visuo-spatial memory with the McCarthy scale subtest and the Rey figure recall, and educational achievement with the Kaufman subtests. Every function evaluated with the BREV was significantly correlated with the reference battery testing a similar function (p=0.01 to 0.001). Specificity and sensitivity of the BREV verbal and non-verbal scores were correlated with those of the Wechsler scale in more than 75% of children. The BREV, therefore, appears to be a reliable test which has been carefully standardized and validated and is valuable in screening for cognitive impairment in children.

Child↗
PubMed2002

[BREV: a rapid clinical scale for cognitive function evaluation in preschool and school-age children].

BREV, standing for the French "Batterie Rapide d'Evaluation des Fonctions Cognitive", is a rapid test to screen children with disorders of higher functions and to define the patterns of these disorders. We describe here two phases of the validation procedure. The first phase consisted in measuring the internal validity of the scale by testing 500 normal school children free of disability. The validation process provided appropriate values for each of the 18 subtests assessing cognitive functions (oral language, non-verbal abilities, attention and memory, education and memory, educational achievment) in ten age groups from 4 to 8 years. All subtests with the same content for any revealed values which increased significantly with age. Inter-reliability was tested by retesting 70 children. The second phase of validation, comparing BREV results and those from a large classical neuropsychological battery, tested specificity and sensitivity. Each of the BREV subtests were correlated with the similar subtest of the classical battery. Correlations between verbal and non-verbal scores and verbal and performance intellectual quotient (Weschler scale) were very significant. Sensitivity and specificity of BREV were above 75p.100;. This confirms the reliability of this battery for children, with good sensitivity and specificity. BREV is a reliable test, with carefully established norms, appropriate for preschool and school-age children.

Attention↗
PubMed2001

Linkage of benign familial infantile convulsions to chromosome 16p12-q12 suggests allelism to the infantile convulsions and choreoathetosis syndrome.

The syndrome of benign familial infantile convulsions (BFIC) is an autosomal dominant epileptic disorder that is characterized by convulsions, with onset at age 3-12 mo and a favorable outcome. BFIC had been linked to chromosome 19q, whereas the infantile convulsions and choreoathetosis (ICCA) syndrome, in which BFIC is associated with paroxysmal dyskinesias, had been linked to chromosome 16p12-q12. BFIC appears to be frequently associated with paroxysmal dyskinesias, because many additional families from diverse ethnic backgrounds have similar syndromes that have been linked to the chromosome 16 ICCA region. Moreover, one large pedigree with paroxysmal kinesigenic dyskinesias only, has also been linked to the same genomic area. This raised the possibility that families with pure BFIC may be linked to chromosome 16 as well. We identified and studied seven families with BFIC inherited as an autosomal dominant trait. Genotyping was performed with markers at chromosome 19q and 16p12-q12. Although chromosome 19q could be excluded, evidence for linkage in the ICCA region was found, with a maximum two-point LOD score of 3.32 for markers D16S3131 and SPN. This result proves that human chromosome 16p12-q12 is a major genetic locus underlying both BFIC and paroxysmal dyskinesias. The unusual phenotype displayed by one homozygous patient suggests that variability of the ICCA syndrome could be sustained by genetic modifiers.

Age of Onset↗
PubMed2001

[BREV: a new clinical scale for the evaluation of cognitive function in school-age and preschool-age children].

BREV (Batterie Rapide d'Evaluation des fonctions cognitives) is a new evaluation test for the screening of cognitive disorders in 4-9-year-old children, based on a neuropsychological process. It is made up of 17 subtests which have been carefully standardized. It is not an intelligence test but a tool for children' health professionals to use as a rapid neuropsychological screening test. It is particularly recommended for any child with a school learning disorder or neurological history with a high risk of cognitive disturbances such as epilepsy. It may also be used as a systematic screening test.

Child↗
PubMed2001

[Epilepsy and childhood learning disabilities].

Epilepsy is very frequent in childhood. Learning disabilities in epilepsy are not very well known. Even if mental retardation has been studied, very few teams have focused on the different cognitive functions in children with epilepsy. Several neuropsychological studies have been carried out but only on epileptic syndromes as West syndrome and Lennox-Gastaut syndrome. It looks very important to study the neuropsychological profiles in the different types of epilepsy in childhood (generalized and partial epilepsy, idiopathic and non idiopathic). Different tools are now available for detection of cognitive deficits.

Child↗
PubMed2001

Semiology of typical and atypical Rolandic epilepsy: a video-EEG analysis.

Since the first descriptions of Rolandic Epilepsy or benign epilepsy with centrotemporal spikes (BECTS), typical and atypical forms have been reported. Indeed, classical focal seizures are sometimes associated with various atypical ictal symptoms and cognitive or behavioural disorders. In an effort to define early clinical and EEG criteria allowing early distinction between typical and atypical forms, we recently conducted a prospective study in a cohort of children with Rolandic Epilepsy. The results of this study have been reported elsewhere. We now discuss the semiological characteristics, and comment on the video-EEG data collected during this study. Symptoms were classified into three major categories: "classical focal seizures"; "spike and wave related symptoms"; and "paraictal symptoms". Classical focal seizures constitute the electroclinical expression of the development and the propagation of a focal cortical neuronal discharge. "Spike and wave related symptoms" are brief neurological or neuropsychological phenomena having a relatively strict temporal relation with individual components of isolated focal or generalized spikes and waves. "Paraictal symptoms" consist of acquired progressive and fluctuating motor or cognitive deficits and are not directly correlated with Todd paralysis. We present detailed video-EEG material of selected cases and discuss the usefulness of such distinctions in terminology. We suggest that variability in clinical expression probably reflects the implication of different pathophysiological mechanisms, which in turn could explain differences in sensitivity to treatment. (Published with videosequences.)

Arm↗
PubMed2001

Cognitive function in adolescents and young adults in complete remission from benign childhood epilepsy with centro-temporal spikes.

Benign childhood epilepsy with centrotemporal spikes (BECTS) is a frequent, benign childhood epilepsy with a good prognosis. However, neuropsychological deficits have been reported during its active phase. In this study, we evaluate the long-term neuropsychological consequences of this reputedly benign epilepsy, particularly the relation between paroxysmal abnormalities and cerebral language lateralization. The neuropsychological outcomes concerning both overall cognitive and lateral hemispheric functions were studied in twenty-three adolescents and young adults in total recovery from BECTS, in thirty-three controls without any significant past neurological history and in ten adolescents and young adults with complete resolution of generalized idiopathic epilepsy (childhood absence epilepsy or CAE). Language lateralization was evaluated using classical neuropsychological procedures (dichotic listening tasks, dual-task procedure). No difference was seen in the three populations with respect to overall cognitive function: memory, language and the executive functions. Although the Performance IQ was lower in patients in remission from CAE, the results were within normal limits. However, qualitative analysis of the dual-task procedure suggested a different organizational pattern for cerebral language in adolescents and young adults in remission from BECTS as compared to controls and patients in remission from CAE. The different organization in cerebral pattern in BECTS patients appeared to be related to the initial epileptic focus as determined by the EEG and/or the sleep-recording. We discuss the relationship between the presence of paroxysmal anomalies in childhood and subtle functional lateralized hemispheric abnormalities in adulthood.

Adolescent↗
PubMed2000

Sinus pericranii: advantages of MR imaging.

Sinus pericranii is a rare vascular anomaly involving an abnormal communication between the extracranial and intracranial circulations. A 3-year-old girl presented with a 2 x 2-cm, midline soft-tissue mass at the vertex. Plain skull films and CT using bone windows showed erosion of the parietal bones. MRI confirmed the clinical diagnosis by identifying communication of the vascular mass with the intracranial dural venous sinus. The advantages of MRI are discussed.

Child, Preschool↗
PubMed2000

Landau-Kleffner syndrome: sleep EEG characteristics at onset.

OBJECTIVES: Landau-Kleffner syndrome (LKS) and benign epilepsy with centro-temporal spikes (BECTS) are two forms of non-lesional age-related focal epilepsies. LKS is a severe disease, affecting language abilities, attention and behavior, and evolving to acquired global aphasia. As LKS is usually readily responsive to an adequate pharmacological management, an early diagnosis of children at risk for this syndrome is essential. BECTS is characterized by the absence of neurological or neuropsychological deficits throughout the course of epilepsy. However, children initially presenting some clinical and EEG features suggesting BECTS may develop severe cognitive impairments during the course of epilepsy. These cases raise the question of whether LKS and BECTS delineate fundamentally different conditions, or represent subclasses of a broad continuum. METHODS: We compared sleep EEG characteristics of 7 children with typical LKS to those of 6 children with classical BECTS. RESULTS: Morphology, topography, organization, and abundance of interictal abnormalities during sleep differentiated these two syndromes from epilepsy onset, before the occurrence of aphasic deficits in LKS. The specific sleep EEG patterns possibly predictive of LKS were (1) unilateral slow wave foci, (2) bilateral independent spike-and-wave discharges, and (3) major activation of spike-and-wave discharges during sleep, exceeding 40% (40-90%) of the first sleep cycle and 30% (30-80%) of the following cycles. CONCLUSIONS: These data support the hypothesis that during LKS evolution, language networks involved in the spread of abundant idiopathic interictal abnormalities (and mainly slow waves) may be progressively inhibited and become unable to carry out their normal physiological role.

Age of Onset↗
PubMed2000

Levodopa-responsive dystonia. GTP cyclohydrolase I or parkin mutations?

Autosomal dominant DOPA-responsive dystonia (DRD) is usually caused by mutation in the gene encoding guanosine triphosphate-cyclohydrolase I (GTPCH I). We studied 22 families with a phenotype of levodopa-responsive dystonia by sequencing the six coding exons, the 5'-untranslated region and the exon-intron boundaries of the GTPCH I gene. Eleven heterozygous mutations were identified, including five missense mutations, one splice site mutation, two small deletions and two nonsense mutations, in 12 families that included 27 patients and 13 asymptomatic carriers. Six mutations were new and five had already been reported. Four of the mutations caused truncation of the GTPCH I protein. One family carried a base-pair change in the 5'-untranslated region, not detected in controls, that could be responsible for the phenotype. Three of the remaining 10 families had deletions in the parkin gene on chromosome 6, underlining how difficult it is to distinguish, in some cases, between DRD and parkin mutations. No mutations were identified in seven families. The clinical spectrum extended from the classical DRD phenotype to parkinsonism with levodopa-induced dyskinesias, and included spastic paraplegia as well as the absence of dystonia.

Adolescent↗