Assessment of conversational pragmatics: A screening tool for pragmatic language impairment in a control population of children aged 6-12 years.

Pragmatics can be defined as the way in which language is used to communicate in a given social context. Although there is a lack of a standardized assessment, healthcare professionals find themselves confronted with pragmatic language skill impairments in children with neurodevelopmental disorders or brain injuries. The characterization of language use causes problems in social interactions, which has clinical implications in daily life. However, this is still underestimated because there is currently no quick, easy-to-use screening device to rank these deficits. We have developed a pragmatic deficits screening chart that has been tested on a control population of children aged 6-12 years. The chart comprises 26 items exploring seven areas of pragmatics (intentionality, governance of exchange, organization of information, adaptation strategies, conversational implicit language, nonverbal skills, and paralinguistic aspects). Parents select one of four possible answers to describe how frequently their child demonstrates each type of behavior ("never, rarely, sometimes, often"). We distributed 1666 charts; 760 were returned, of which 552 could be analyzed. Internal consistency as measured with Cronbach's alpha coefficient (0.88) was satisfactory. There was no influence of age on total score, nor of the department/type of schooling. The population distribution was non-Gaussian so the results are presented in percentiles. We propose a first-line screening tool that is quick and easy to complete by family, which facilitates referral to specialists for further investigations into the etiological implications of pragmatic language impairment.

Assessing assistive technology requirements in children with written language disorders. A decision tree to guide counseling.

Children with a written language disorder are sometimes dependent upon help from others for their schoolwork. A computer can be a way to circumvent this difficulty. Various software programs and plug-in peripheral devices are available, some of which specifically target the needs of these young people. There is no consensus, however, with regard to how best to counsel parents and children with regard to these tools. Furthermore, written language disorders and existing technical supports are not always clearly understood. In many cases, healthcare and teaching professionals have only limited knowledge of the potentially specific advantages for patients with written language disorders. A child's full integration into daily activities and school life can be hampered by counseling that was inadequately tailored or by a lack of support in using this equipment. Joint consultations involving both an occupational and a speech therapist have been set up in our department to improve counseling with regard to technical supports. Using our daily practice as a basis, we have developed a decision tree that we see as a necessary tool for helping professionals make the most appropriate practical choices.

[Mathematical learning disability: A multiple origin? Examples of Turner and Fragile X syndromes]. / Troubles en mathématiques : une origine multiple ? L'exemple des syndromes de Turner et de l'X Fragile.

Problems in mathematics are a frequent major complaint in neuropediatric departments, for which there are two explanatory theoretical models: the hypothesis of a genetic and modular origin (with a number sense deficit) and a multidetermined origin. The purpose of this paper is to review the mathematical difficulties described in Turner syndrome and Fragile X syndrome, because a specific mathematical disorder is usually reported in these populations, supporting the existence of a number sense. Analysis of the literature reveals highly variable cognitive phenotypes in these populations, especially regarding mathematical abilities. Performance heterogeneity might be related to different factors such as the abilities needed to perform the task, the variability of definitions, the different tests used in the studies and the heterogeneity of the syndromes themselves. A number sense deficit is usually described in these syndromes, but variable cognitive impairments are also observed. The idea of a modular functioning is then debated and we argue for the necessity of a global cognitive evaluation approach.

[Classification of children with specific language impairments: What can we think about them in 2016?] / Les classifications des troubles spécifiques du langage oral : qu'en penser en 2016 ?

Specific language impairments are characterized by a strong semiological heterogeneity. Numerous classifications have been used to bring out this heterogeneity and to create subgroups after outlining specific symptoms and deficits. However, semiological fixed profiles would not be adequate for these disorders related to neurodevelopmental trajectories. This heterogeneity is not only semiological: it is also found within underlying mechanisms, as well as in the etiopathogenesis, which is still not well understood today. The aim of this article is to introduce the main semiological classifications to highlight the fact that the symptomatic level alone is not sufficient to characterize specific language impairments.

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.

Obesity has become a major worldwide challenge to public health, owing to an interaction between the Western 'obesogenic' environment and a strong genetic contribution. Recent extensive genome-wide association studies (GWASs) have identified numerous single nucleotide polymorphisms associated with obesity, but these loci together account for only a small fraction of the known heritable component. Thus, the 'common disease, common variant' hypothesis is increasingly coming under challenge. Here we report a highly penetrant form of obesity, initially observed in 31 subjects who were heterozygous for deletions of at least 593 kilobases at 16p11.2 and whose ascertainment included cognitive deficits. Nineteen similar deletions were identified from GWAS data in 16,053 individuals from eight European cohorts. These deletions were absent from healthy non-obese controls and accounted for 0.7% of our morbid obesity cases (body mass index (BMI) >or= 40 kg m(-2) or BMI standard deviation score >or= 4; P = 6.4 x 10(-8), odds ratio 43.0), demonstrating the potential importance in common disease of rare variants with strong effects. This highlights a promising strategy for identifying missing heritability in obesity and other complex traits: cohorts with extreme phenotypes are likely to be enriched for rare variants, thereby improving power for their discovery. Subsequent analysis of the loci so identified may well reveal additional rare variants that further contribute to the missing heritability, as recently reported for SIM1 (ref. 3). The most productive approach may therefore be to combine the 'power of the extreme' in small, well-phenotyped cohorts, with targeted follow-up in case-control and population cohorts.

[A study of 100 consecutive children presenting with learning disabilities]. / Analyse d'une population de 100 enfants adressés pour troubles d'apprentissage scolaire.

DESIGN: To determine the impact of a neuropediatrician view on diagnosis and management of learning disabilities. METHOD: Retrospective review of the medical records of the last 100 children attending for learning disabilities from 1st June 2000 through 31st May 2001. Assessment concerned school curriculum, type of management before consultation, diagnosis procedure and type of management following consultation. Differential diagnosis was made in 100% of cases following evaluation. RESULTS: The three main diagnoses were attentionnal deficit disorder with hyperactivity (39%), mental retardation (17%) and dyslexia (7%). Mental retardation and cerebral palsy diagnoses had not been made before consultation. Conversely, 70% of the diagnoses of dyslexia made before consultation were incorrect. Medical treatment was proposed in 38% of cases and modification in the management in 59% of cases. CONCLUSION: This study highlights the interest of a rigorous diagnosis procedure for learning disabilities, based on a neuropediatrics examination, a cognitive evaluation and phonological and lexical evaluation. It only may lead to an appropriate management.

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.

[Childhood epilepsy syndromes and diseases]. / Les syndromes et maladies épileptiques de l'enfant.

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.

["Conservative" treatment in the multiply handicapped child]. / Traitements "conservatoires" chez l'enfant polyhandicapé.

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.

Atmospheric physics and Earth observations: sample performance of the grille spectrometer.

The grille spectrometer observed the setting and rising sun 18 times during the Spacelab 1 mission. In addition to solar absorption lines, many of which had not been observed before, atmospheric spectral absorptions due to carbon monoxide and carbon dioxide were observed at heights tangent to the thermosphere (greater than 85 kilometers), and absorptions due to ozone, water, methane, and nitrous oxide were observed in the mesosphere (greater than 50 kilometers). The strongly coupled molecules NO-NO(2) and HC1-HF were observed as pairs in the stratosphere. Methane is presented as an example of the instrumental operations because of the characteristic aspect of the Q branch of its v(3) band.

Profils experimentaux de I'horizon infrarouge de la terre.

This paper presents experimental ir horizon profiles of the earth seen fromoutside the atmosphere. Measurements were made from a capsule which reached 175 km. The attitude was controlled during the whole flight by means of agyroscopic device. Seven spectral channels were studied, especially: ozone (9.6 micro), CO(2) (14-16 micro), the range of atmospheric window (11micro), and a broad channel (1-50 micro) that was the only one of the firstexperiment in 1965. The spatial limit of resolution is 0.16 degrees , and theattitude in space of the capsule has been reconstructed with an accuracy equalto 0.05 degrees due to a star mapper. Results are expressed as variations ofradiance with respect to tangential height for the different spectral channels.