[EVAL MATER: Proposal for a paediatric evaluation of linguistic and psychomotor competences during the 1st medical check-up in nursery school]. / EVAL MATER: proposition d'une évaluation pédiatrique des compétences langagières et psychomotrices lors du 1er bilan de santé en école maternelle.

OBJECTIVES: To prevent learning disorders, the authors propose a standardized approach of linguistic competences and psychomotor development in young children. POPULATION AND METHODS: Children were evaluated during the systematic examination that was carried out in nursery school between 3 years and 6 months and 4 years and 6 months of age. 2 investigations were led: investigation of prevalence led in 2660 children and evaluation of performance of the tests in 99 children among them. RESULTS: The statistical analyses of their results made it possible to determine scores helping with the decision of a request for assessment to diagnostic aiming. The sensitivity and the specificity of the tests increased with the age and were better within the framework of the tests of language. This new assessment was appreciated by the doctors users.

Global and local processing in Williams syndrome: drawing versus perceiving.

It has been hypothesized that a local processing bias underlies overall visuospatial impairments in Williams syndrome (WS). However, recent studies have challenged this hypothesis by providing evidence against a local processing bias at the perceptual level. The aim of the present study was to further examine drawing and perceptual skills in children with WS using closely matched-hierarchical stimuli. In the drawing task children with WS exhibited a local processing bias. However, no significant preferential bias was found in the perceptual task. This indicates that children with WS do not systematically present a preferential bias for local information. Taken together the findings of the present study suggest that perceptual processing deficits per se are unlikely to explain local processing biases in visuoconstructive tasks often described in people with WS.

[Failure to thrive and psychomotor regression revealing vitamin B12 deficiency in 3 infants]. / Stagnation pondérale et régression psychomotrice révélant une carence en vitamine B12 chez 3 nourrissons.

The newborn's vitamin B12 storage exclusively comes from placenta transfer, later from animal food. We relate 3 observations of infants (3-11-13 months) with failure to thrive, anorexia, vomiting and for the two olders refusal of weaning, associated with psychomotricity regression and hypotony. Blood cell count showed a macrocytosis without anemia (case 2-3) and a severe microcytic anemia for the first case caused by a mild alpha-thalassemia, with megaloblastic bone marrow. Vitamin B12 levels were very low associated with increased methylmalonic acid and homocysteine serum levels which confirm the diagnostic . Cerebral imaging showed diffuse cortical atrophy. Cobalamin deficiency was caused by strict vegetarian diets mothers of breastfed infants (cases 2-3) and for younger by mother's unrecognized pernicious anemia. 3 mothers had no anemia and normal B12 's levels at diagnosis. Vitamin B12 supply lead to a rapid clinical and hematologic improvement. In two cases, neurologic recovery was incomplete. About one hundred case of B12 deficiency 's infant are reported, 2/3 are breast-fed by vegetarian mothers, and 1/4 have mothers with pernicious anemia. The failure to thrive is due to anorexia, refusal of weaning and partial villous atrophy. Neurologic manifestations are secondary to cerebral disorders, sometimes revealed by an exposure to anesthetic nitrous oxyd. The macrocytic anemia is inconstant. The etiologic research of developmental delay in an infant may include vitamin B12's deficiency, even if there is no haematologic signs, especially if breast-fedding 's mothers is vegetarian.

[A practical diagnostic approach to mental deficiency in 2002]. / Démarche diagnostique devant une déficience mentale de l'enfant en 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.

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.

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.

[BREV: a rapid clinical scale for cognitive function evaluation in preschool and school-age children]. / BREV: une batterie rapide clinique d'évaluation des fonctions cognitives chez les enfants d'âge scolaire et préscolaire.

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.

[BREV: a new clinical scale for the evaluation of cognitive function in school-age and preschool-age children]. / La BREV: une batterie clinique d'évaluation des fonctions cognitives chez les enfants d'âges scolaire et préscolaire.

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.

Startle response: epileptic or non-epileptic? The case for "flash" SMA reflex seizures.

A 19-year-old woman complained of long-standing, frequent, debilitating brusque movements triggered by unexpected stimuli. She was neurologically normal and neuroimaging was also normal. Conspicuous startle reactions were easily reproduced under EEG and video monitoring: the interictal EEG was normal, the ictal recordings doubtful; clinically, the startle reaction was asymmetric, with elevation of the left limbs. The diagnosis of hyperekplexia and startle epilepsy were discussed. We learned that she had been evaluated at age 3-4 months for spontaneous, generalised tonic-clonic seizures and "infantile spasms", in fact for early-onset startle reactions triggered by noise or contact, in association with prominent EEG changes. A full remission had been achieved under ACTH therapy, but the startle reactions had reappeared at around age six. The patient was successfully treated with carbamazepine. The history, clinical and neurophysiological data led us to discuss the diagnosis of hyperekplexia and startle epilepsy. We concluded that the patient had an unusual form of cryptogenic focal epilepsy originating from the supplementary motor area, presenting as strictly stimulus-triggered "flash" seizures.

[Psychopathology in children with epilepsy. Specific information about epilepsy]. / Psychopathologie annonce du diagnostic.

Childhood epilepsy is frequently concomitant with emotional and psychopathological difficulties. A specific prevention workout of the psychosocial risks is always necessary and should be considered as a major task by the treating physician. Quality of the information provided by the physician and listening to the parents and the child are important factors that will influence the follow-up.

[Charcot Marie Tooth disease: exacerbation in pregnancy]. / Maladie de Charcot Marie Tooth: aggravation lors de la grossesse.

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.

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.

[Lamotrigine therapy in children. Retrospective study of 32 children]. / Intérêt de la lamotrigine en pédiatrie. Etude rétrospective chez 32 enfants.

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.

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.

[Clinical approach to mental retardation of genetic origin]. / Approche clinique des retards mentaux d'origine génétique.

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.

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.