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Biomedical subjects

M O Livet

Publications and source records attributed to M O Livet.

At least 19 recordsLinked to original sources
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↗
PubMed2000

Triose phosphate isomerase deficiency in 3 French families: two novel null alleles, a frameshift mutation (TPI Alfortville) and an alteration in the initiation codon (TPI Paris).

Three French families with triose phosphate isomerase (TPI) deficiency were studied, and 2 new mutations giving rise to null alleles were observed: a frameshift mutation with deletion of the 86-87 TG dinucleotide in codon 29 (TPI Alfortville) and a T-->A transversion in nucleotide 2 of the initiation codon (TPI Paris). The first mutation occurred in compound heterozygosity with the frequent E105D mutation. The second mutation occurred in association with the 2-nucleotide promoter variant (-43G,-46A). In a third family, the propositus was an E105D homozygote. In the TPI Paris family, the coinheritance of the -43,-46 promoter variant appeared to exert little, if any, effect on TPI enzyme activity, a finding consistent with 2 previous reports that questioned the putative role of the promoter polymorphism as a true deficiency variant. Similarly, the further coinheritance of glucose-6-phosphate dehydrogenase (G6PD) A- (202 G-->A/376 A-->G) appeared to have little effect on the observed phenotype. Compound heterozygosity for the E105D mutation with the null allele TPI Alfortville appeared to lead to a more severe clinical syndrome than did E105D homozygosity, suggesting that compound heterozygosity with null alleles may lead to more profound clinical abnormalities than homozygosity with missense alleles. A simple, rapid polymerase chain reaction and restriction enzyme procedure for the E105D mutation was developed for prenatal diagnosis in one family and subsequently used for screening in the other families.

Adult↗
PubMed2000

[Lamotrigine therapy in children. Retrospective study of 32 children].

BACKGROUND: Lamotrigine is one of the new anti-epileptic drugs, which is a phenyltriazine derivative. It is considered to act via an inhibitory effect on voltage-sensitive sodium channels and to have no GABAergic action. PATIENTS AND METHOD: We studied its efficiency in 32 children with refractory epilepsy after a treatment of at least one year with other anti-epileptic drugs. We then compared our results with other publications. RESULTS: Good efficiency (at least 50% reduction of crises) has been demonstrated for lamotrigine in children with generalized epilepsy (62.5% good results), particularly with absence epilepsy and Lennox-Gastaut syndrome. Results are encouraging for our few patients with epilepsy with continuous spike waves during slow-wave sleep. On the other hand, more precise indications are needed in partial epilepsy. CONCLUSION: Seizure control was generally maintained during one year of lamotrigine treatment. Association to sodium valproate is relevant for most of the authors. Adverse effects are uncommon, and we did not observe any skin rash. Lastly, improvement of behaviour and cognitive functions represents another important benefit of lamotrigine.

Adolescent↗
PubMed2000

[Charcot Marie Tooth disease: exacerbation in pregnancy].

We report a case which illustrates the fact that an exacerbation of Charcot Marie Tooth disease, while rare, is possible during pregnancy. Moreover our case suggests the possibility of a positive effect of corticosteroids on such a complication, with an improvement of clinical symptoms as well as of electrophysiological results.

Adrenal Cortex Hormones↗
PubMed1999

[Cognitive and socio-educational ramifications of epilepsy in the child].

Cognitive effects and psychosocial risks after childhood onset epilepsy are better known nowadays, as well as their dependency upon several causative factors. Remission of seizures does not ensure good psychosocial outcome. A specific prevention and evaluation work is always necessary, and is first a medical work. Information has a very important part. Restrictions have to be optimally adapted to seizure related risk, in order to obtain an improvement in quality of life. Neuropsychological assessments and psychopathological approach are both necessary. Neuropsychological assessment may show specific cognitive impairments related to epilepsy type and localisation or epileptic syndrome. Rehabilitation has to be suited to each child, taken into account his intellectual development as well as his behavior and relationships. Multidisciplinary teams working in coordination to teachers are an important need.

Child↗
PubMed1999

Configural and local processing of faces in children with Williams syndrome.

Three experiments investigated face processing in children with Williams syndrome (WS). In Experiment 1, the ability to discriminate different aspects of faces was compared between WS subjects and a group of children individually matched for chronological age (CA-matches) and another group matched for mental age (MA-matches). In Experiments 2 and 3, the ability to process the local and configural aspects of geometrical patterns and faces was assessed within the same groups of subjects. The results indicated that the WSs' overall performance on face recognition was below that of the CA-matches, but similar to that of the MA-matches. This study revealed in addition that the CA- and MA-matches showed a bias toward a configural mode of face and geometrical shape processing, whereas children with WS did not show any bias. These findings suggest that face processing undergoes an abnormal developmental course in WS.

Adolescent↗
PubMed1999

Angelman syndrome resulting from UBE3A mutations in 14 patients from eight families: clinical manifestations and genetic counselling.

Angelman syndrome (AS) is a neurological disorder with a heterogeneous genetic aetiology. It most frequently results from a de novo interstitial deletion in the 15q11-q13 region, but in a few cases it is caused by paternal uniparental disomy (UPD) or an imprinting mutation. The remaining 20 to 30% of AS patients exhibit biparental inheritance and a normal pattern of allelic methylation in the 15q11-q13 region. In this latter group, mutations in the UBE3A gene have recently been shown to be a cause of AS. Here we describe the phenotypic expression in 14 AS cases involving eight UBE3A mutations. These comprise 11 familial cases from five families and three sporadic cases. Subtle differences from the typical phenotype of AS were found. Consistent manifestations were psychomotor delay, a happy disposition, a hyperexcitable personality, EEG abnormalities, and mental retardation with severe speech impairment. The other main manifestations of AS, ataxia, epilepsy, and microcephaly, were either milder or absent in various combinations among the patients. In addition, myoclonus of cortical origin was frequently observed with severe fits inducing myoclonic seizures. The majority of the patients were overweight. This study showed that ataxia, myoclonus, EEG abnormalities, speech impairment, characteristic behavioural phenotype, and abnormal head circumference are attributable to a deficiency in the maternally inherited UBE3A allele. Furthermore, analysis of mutation transmission showed an unexpectedly high rate of somatic mosaicism in normal carriers. These data have important consequences for genetic counselling.

Adolescent↗
PubMed1999

[Clinical approach to mental retardation of genetic origin].

Etiological investigations of mental deficiencies and their syndromic analysis have greatly progressed with advancing knowledge in the field of genetics and the advent of new technical procedures. Fast diagnostic tests are now available for certain syndromes, particularly those related to micordeletions. Clinical diagnosis remains however the necessary prerequisite for ordering such tests. The clinical examination not only provides a detailed description of the physical condition, but also provides essential information on behavioral and cognitive disorders. Distinctive behavioral patterns observed in some syndromes are suggestive of a "behavioral phenotype". This pattern can be a valuable clue to diagnosis and also allows for early intervention and counselling specifically aimed at dealing with predicted behavioral abnormalities.

Behavior↗
PubMed1999

Intracellular levels of the LIS1 protein correlate with clinical and neuroradiological findings in patients with classical lissencephaly.

We report on the genotype-phenotype correlation in 7 patients with classical lissencephaly carrying a heterozygous subtle mutation in the LIS1 gene. Six patients, showed a mutation predicted to encode for a truncated protein, and one mutation altered a splicing site, resulting in skipping of exon 4. Western blot analysis performed on the lymphoblastoid cell line of 2 patients bearing truncating mutations indicated that the mutated allele did not produce a detectable amount of the LIS1 protein; whereas the analysis performed on the fibroblasts from the patient with a splice-site mutation was suggestive of partial protein synthesis from the mutated allele. Although clinical and magnetic resonance imaging findings of patients with truncating mutations did not differ from those observed in patients with a heterozygous deletion, the patient bearing the exon-skipping mutation had less severe clinical and brain involvement. Our data suggest that truncating mutations in the LIS1 gene are relatively common among patients with classical lissencephaly not bearing a heterozygous deletion at 17p13.3, and strengthen the relevance of correct intracellular dosage of the LIS1 protein in the neuronal migration process.

1-Alkyl-2-acetylglycerophosphocholine Esterase↗
PubMed1998

Angelman syndrome: correlations between epilepsy phenotypes and genotypes.

We compared epilepsy phenotypes with genotypes of Angelman syndrome (AS), including chromosome 15q11-13 deletions (class I), uniparental disomy (class II), methylation imprinting abnormalities (class III), and mutation in the UBE3A gene (class IV). Twenty patients were prospectively selected based on clinical cytogenetic and molecular diagnosis of AS. All patients had 6 to 72 hours of closed-circuit television videotaping and digitized electroencephalogrpahic (EEG) telemetry. Patients from all genotypic classes had characteristic EEGs with diffuse bifrontally dominant high-amplitude 1- to 3-Hz notched or triphasic or polyphasic slow waves, or slow and sharp waves. Class I patients had severe intractable epilepsy, most frequently with atypical absences and myoclonias and less frequently with generalized extensor tonic seizures or flexor spasms. Epileptic spasms were recorded in AS patients as old as 41 years. Aged-matched class II, III, and IV patients had either no epilepsy or drug-responsive mild epilepsy with relatively infrequent atypical absences, myoclonias, or atonic seizures. In conclusion, maternally inherited chromosome 15q11-13 deletions produce severe epilepsy. Loss-of-function UBE3A mutations, uniparental disomy, or methylation imprint abnormalities in AS are associated with relatively mild epilepsy. Involvement of other genes in the chromosome 15q11-13 deletion, such as GABRB3, may explain severe epilepsy in AS.

Adolescent↗
PubMed1997

[Smith-Magenis syndrome].

Smith-Magenis syndrome is caused by a 17p11.2 deletion. It associates mental retardation, facial dysmorphism and brachydactyly; aberrant behavior and major sleep problems are present in 70% of the cases. It is probably under-diagnosed because the facial abnormalities are mild and the behavioral problems with hyperactivity and self-injuries are dominant, leading to the diagnosis of psychiatric pathology. However these behavioral problems are sufficiently characterized to allow the diagnosis of the syndrome and look for a 17p11.2 microdeletion. Otorhinolaryngologic, ophthalmologic, cardiac and renal abnormalities can be associated and their evaluation is necessary. Smith-Magenis syndrome is considered as a contiguous gene syndrome. Genes have been mapped and isolated to the critical region, but their participation in the pathogenesis of the syndrome remains unclear.

Abnormalities, Multiple↗
PubMed1997

Ischemic cerebrovascular disease in children: retrospective study of 35 patients.

A 10-year review of a neuropediatric department experience with childhood ischemic cerebrovascular disease identified 35 patients with arterial ischemic stroke. The ability to diagnose stroke in children has improved with the development of imaging techniques in the past few years. Children have a wide array of risk factors for ischemic strokes, since some are acquired and others are congenital. Twenty-eight associated conditions (80%) were found in our patients and we identified 17 specific causes (48.5%) among them. The cause of stroke in children is important to recognize because stroke is likely to recur depending on the etiology.

Adolescent↗
PubMed1997

[Ophthalmologic signs in children with autism].

PURPOSE: Autism is a clinical entity defined by characteristic association of a lack of social interactions and communications, beginning before three years of age. The purpose of this study was to screen ophthalmologic findings in autistic children. MATERIALS AND METHODS: Ten autistic children, 6 girls and 4 boys, underwent a complete ophthalmologic examination in the Department of Pediatric Ophthalmology at the Hospital La Timone, Marseilles, France. Their age ranged from 1 to 14 years (mean = 8.5 +/- 3.8). RESULTS: Refraction showed hypermetropia in 7 cases (70%), astigmatism more than 1 diopter in 6 cases (60%), bilateral astigmatism in 4 cases (40%) and unilateral astigmatism in 2 cases (20%). Astigmatism axis was oblique for 8 eyes, with the rule for 6 eyes and against the rule for 2 eyes. Strabismus was present in 6 cases (60%) including 4 cases of exotropia. Fundus examination found pallor of the optic disc in 4 cases. CONCLUSION: Ophthalmologic findings in autistic children appear to be mainly unilateral or bilateral astigmatism and binocular vision troubles. They can lead to amblyopia with the risk of functional loss of vision. Early diagnosis of visual problems in autistic children is also essential in order to be able to propose adequate psychological and educational cares for the children and their family.

Adolescent↗
PubMed1996

Cortical myoclonus in Angelman syndrome.

Angelman syndrome (AS) results from lack of genetic contribution from maternal chromosome 15q11-13. This region encompasses three GABAA receptor subunit genes (beta3, alpha5, and gamma3). The characteristic phenotype of AS is severe mental retardation, ataxic gait, tremulousness, and jerky movements. We studied the movement disorder in 11 AS patients, aged 3 to 28 years. Two patients had paternal uniparental disomy for chromosome 15, 8 had a >3 Mb deletion, and 1 had a microdeletion involving loci D15S10, D15S113, and GABRB3. All patients exhibited quasicontinuous rhythmic myoclonus mainly involving hands and face, accompanied by rhythmic 5- to 10-Hz electroencephalographic (EEG) activity. Electromyographic bursts lasted 35 +/- 13 msec and had a frequency of 11 +/- 2.4 Hz. Burst-locked EEG averaging in 5 patients, generated a premyoclonus transient preceding the burst by 19 +/- 5 msec. A cortical spread pattern of myoclonic cortical activity was observed. Seven patients also demonstrated myoclonic seizures. No giant somatosensory evoked potentials or C-reflex were observed. The silent period following motor evoked potentials was shortened by 70%, indicating motor cortex hyperexcitability. Treatment with piracetam in 5 patients significantly improved myoclonus. We conclude that spontaneous, rhythmic, fast-bursting cortical myoclonus is a prominent feature of AS.

Adolescent↗