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Biomedical subjects

L Vallée

Publications and source records attributed to L Vallée.

At least 19 recordsLinked to original sources
PubMed2003

Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy.

OBJECTIVES: SCN1A mutations were recently reported in several patients with severe myoclonic epilepsy in infancy (SMEI). The authors analyzed SCN1A mutations in 93 patients with SMEI and made genotype-phenotype correlation to clarify the role of this gene in the etiology of SMEI. METHODS: All patients fulfilled the criteria for SMEI. The authors analyzed all patients for SCN1A mutations using denaturing high performance liquid chromatography. If a patient's chromatogram was abnormal, the authors sequenced the gene in the patient and both parents. RESULTS: SCN1A mutations were identified in 33 patients (35%). Most mutations were de novo, but were inherited in three patients. Parents carrying the inherited mutations had either no symptoms or a milder form of epilepsy. A greater frequency of unilateral motor seizures was the only clinical difference between patients with SCN1A mutations and those without. Truncating mutations were more frequently associated with such seizures than were missense mutations. The percentage of cases with family history of epilepsy was significantly higher in patients with SCN1A mutations. CONCLUSIONS: Unilateral motor seizures may be a specific clinical characteristic of SMEI caused by SCN1A mutations. Ten percent of SCN1A mutations are inherited from an asymptomatic or mildly affected parent, suggesting that SMEI is genetically heterogeneous. The increased frequency of familial epilepsy indicates that other genetic factors may contribute to this disorder.

Adult↗
PubMed2002

[A practical diagnostic approach to mental deficiency in 2002].

The identification of an etiology in children with mental deficiency is a major challenge in routine pediatrics. As the result of a workshop leaded by the Société française de neurologie pédiatrique (SFNP), we propose a three steps diagnostic procedure, taking into account several frequent clinical observations leading to further targeted investigations. The yield of systematic imaging and biological screening remains very low, when performed for a non specific isolated mental retardation, without any characteristic clinical features. Yet, it is mandatory for an accurate genetic counseling to know not only the clinical diagnosis of developmental delay, but also the pathophysiology and the underlying molecular mechanism. The SFNP's proposal points out the necessity of a comprehensive clinical process including cautious neurodevelopmental assessment, reliable cognitive and adaptive skills evaluation, and collaboration between different specialists.

Adolescent↗
PubMed2002

[Chiari type I malformation in children: presentation in 34 cases].

UNLABELLED: Incidental diagnoses of Chiari I malformation are more and more frequent in pauci or asymptomatic children. The value of neurophysiological investigations for surgical indications is discussed. OBJECTIVE: To determine clinical presentations of Chiari I malformation and relative frequencies of severe and incidental forms, and to evaluate the usefulness of neurophysiological investigations for surgical indications. METHODS: This retrospective study included 34 patients admitted from 1984 to 2000, with Chiari I malformation diagnosis in different pediatric (intensive care, neurology and neurosurgery) units of a university hospital. RESULTS: The clinical presentation was severe (two children died) in four cases (12%). Signs of brain stem compression were found in 41% of cases, scoliosis in 21%, and incidental diagnosis in 26%. The polysomnography, performed in 12 cases, showed sleep-apneas in six cases. One child with an incidental diagnosis of Chiari I malformation had many sleep-apneas which required a surgical treatment. A surgical decompression was performed in 69% of cases, with clinical improvement in 77%. CONCLUSION: The high incidence (12%) of severe forms revealing Chiari I malformations justifies systematic neurophysiological investigations for the initial evaluation and the follow-up of Chiari 1 malformations, including the less symptomatic forms.

Adolescent↗
PubMed2002

["Conservative" treatment in the multiply handicapped child].

The increasingly medicalized strategies of nursing for the multihandicapped children point out the problem of limits and constraints of these processing. First, a review of methods of treatments for the evolutionary complications is done. Secondly, the consequences of the choice of these therapeutics are discussed. The ethical consequences of the various processing are analysed by developing the motivations of the caring teams, the concepts of quality of life and its dualism with dignity of life.

Abnormalities, Multiple↗
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

Late shunt infection: incidence, pathogenesis, and therapeutic implications.

Shunt infections (SI) are a major concern in pediatric neurosurgery. Although SI occurs generally shortly after surgery, it can be very delayed in a number of cases. The incidence of late shunt infection (LSI) is not established, and the sources of contamination are poorly understood. We reviewed 1,793 pediatric cases from our database, with a mean follow-up of 9.12 years. We selected 40 cases of SI occurring more than one year after the previous shunt operation. These represented 12.7 % of SI, and the annual incidence of LSI was 0.28 % in our series. Peritonitis, generally due to appendicitis, was the cause of LSI in 11 cases. Hematogenous contamination was diagnosed in eight cases, because the germ was Haemophilus,Pneumococcus, or Listeria, or an ENT infection had preceded SI; the incidence of purulent meningitis was significantly higher in shunted patients than in the general population. LSI was due in seven cases to bowel perforation, and in four to direct inoculation, after abdominal surgery or traumatic exposure of the shunt. In the remaining 10 cases, no potential cause of infection was identified, and persistence of a germ since the previous shunt operation was suspected. SI represents a life-long threat after shunting, and may be unrelated to shunt surgery.

Adolescent↗
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↗
PubMed2002

[Childhood epilepsy syndromes and diseases].

The classification of seizures and epileptics syndromes made it possible on the prognostic level to differentiate the benign epilepsies and the serious epilepsies. In children, several concepts are to be considered for a better comprehension of the specificity of the epilepsies related to this age of the life: synaptogenesis, receptors ontogenesis and ionic channels, myelinogenesis, epigenesis. Epilepsy is often associated with cognitive disorders and behaviour disorders in children. The relations between cognitive functions and epilepsy are multifactorial with intrication of neurodevelopmental, environmental and psychogenic factors. Identification of epileptic syndromes genetically determined and genetic diseases becoming complicated by epilepsy, allow a complementary approach in the comprehension and diagnosis of childhood epilepsy.

Cerebral Cortex↗
PubMed2001

[Fetal alcohol syndrome: nervous system damage and clinical phenotype].

Alcohol is much more slowly eliminated in the fetus than in the mother (< 50%). The ethanol and its derivative the acetaldehyde have a constant dose-effect on the development of the nervous system central. The individual susceptibility to alchol teratogenic effect in utero is responsible of variable clinical phenotype. This teratogenicity is constant during all the development of the central nervous system. The diagnosis of fetal alcohol syndrome (FAS) associates three criteria: delay of pre- and postnatal growth, abnormal development of the central nervous system, craniofacial abnormalities. Cerebral malformations are extremely variable, being to relate to the various stages of development of the nervous system central. Neurochimic abnormalities interest mainly the mono-aminergic system. The backwardness is the best known consequence of SAF (34 to 851%). It is not constant. Facial dysmorphic results of joint abnormalities whose none is pathognomonic but whose grouping is evocative. Psychomotor instability is the most frequent expression on the behavioral phenotype.

Abnormalities, Drug-Induced↗
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

[Attention deficit disorder with hyperactivity in children: diagnosis and therapeutic management].

Criteria of attention deficit disorder with hyperactivity are defined in DSM IV and CIM 10. This syndrome is a model associating in the same entity, psychogenic and neurobiologic mechanisms. The diagnosis requires a rigorous analysis of the semiology, circumstances, and factors. Treatment cannot be simply reduced to the prescription of a psychostimulant drug or clonidine and must be adapted for each patient. Support of parents and teachers, and psychopedagogic and learning disorders management are described.

Adolescent↗
PubMed2000

Valproic acid intoxication identified by 1H and 1H-(13)C correlated NMR spectroscopy of urine samples.

Analysis of biological fluids by proton and carbon nuclear magnetic resonance spectroscopy (1H and 13C NMR) is a promising tool in clinical biology. We used this method for rapid toxicological screening in the case of two suicide attempts. For each case, a urine sample was analysed at 300 MHz by 1D and 2D sequences (TOCSY and HMBC) in a short experimental time. Quantification was performed by peak integration on the 1D 1H NMR spectrum. For the two patients, results showed the same resonances of the major metabolite, valproyl-O-glucuronide at concentrations of 121 and 44 mmol/l.

Adolescent↗