CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects

International audienc

Sténose congénitale des orifices piriformes (prévalence de l'atteinte de l'axe hypothalamo-hypophysaire et des autres anomalies associées)

La sténose congénitale des orifices piriformes (SCOP) est une malformation rare des fosses nasales responsable d'une détresse respiratoire néonatale. Elle est considérée comme une forme clinique d'holoprosencéphalie. La SCOP peut-être sporadique ou familiale, isolée ou associée à d'autres anomalies de la ligne médiane telles l'incisive médiane unique (IMU) ou l'insuffisance hypophysaire. L'objectif de ce travail a été la description et l'étude de la prévalence des anomalies de l'axe hypothalamo-hypophysaire et des autres anomalies congénitales associées à la SCOP. Sur les 31 sujets étudiés, 24 (77%) présentaient au moins une anomalie associée à la SCOP, dont les plus fréquentes étaient l'IMU (55%) et les atteintes de l'axe hypothalamo-hypophysaire. La prévalence des anomalies endocrines était de 42%. Huit sujets (26%) avaient une insuffisance hormonale (déficit somatotrope isolé n = 2 ou multiple n = 6). Douze sujets (39%) avaient une anomalie morphologique de l'axe hypothalamo-hypophysaire avec (n = 7) ou sans (n = 5) anomalie hormonale décelable. Il existait une posthypophyse ectopique chez 9 enfants, en position infundibulaire (n = 4) ou située le long de la tige pituitaire (n = 5). De plus, des anomalies cérébrales, ophtalmologiques, rachidiennes, des extrémités, rénales et/ou cardiaques ont été mises en évidence, dont certaines n'avaient pas été décrites jusqu'à présent dans le cadre de cette malformation ORL. Enfin, une composante familiale (antécédents familiaux de malformation de la ligne médiane et/ou consanguinité parentale) a été retrouvée dans 32% des cas. En conclusion, ces résultats justifient la réalisation systématique d'une IRM cérébrale et d'une exploration hormonale chez les enfants présentant une SCOP, en particulier en période néonatale et/ou préopératoire, afin de permettre un dépistage précoce des anomalies métaboliques éventuelles et une prévention de leurs complications. La forte composante familiale et la grande diversité phénotypique de ces sujets permettent de suggérer une implication des gènes exprimés au cours du développement des structures cérébrales, crânio-faciales et hypothalamo-hypophysaires dans la genèse de la SCOPAMIENS-BU Santé (800212102) / SudocPARIS-BIUM (751062103) / SudocSudocFranceF

Évaluation de la personnalité, de la motivation au changement et des facteurs familiaux présents chez des jeunes suivis pour obésité.

International audienceThe aim of this study is to describe the psychological factors among young people treated for obesity and their parents. 63 families whose children (from 8 to 18 years old) are treated for weight problems have answered questions about the personality and the advantages/disadvantages of a healthy diet and regular exercise. Parents provided information on a scale of anxiety\textendashdepression, and on social demographic details. Young people have expressed their feelings of perceived competence, ability and motivation in the areas of nutrition and physical activity across different scales. A semi-structured interview was conducted with 13 families. Motivation and feeling of perceived competence in young people are high despite the important disadvantages to having a healthy diet. They have high scores in all dimensions of personality and there are correlations with the scores of perceived competence. Parents seem to be an important model from a personal hygiene point of view; however, no statistical relationship could be demonstrated with being overweight, anxiety or depression parents. (PsycINFO Database Record (c) 2013 APA, all rights reserved). (journal abstract

Triiodothyronine-predominant Graves’ disease in childhood: detection and therapeutic implications

ObjectiveTo assess in a pediatric population, the clinical characteristics and management of triiodothyronine-predominant Graves' disease (T3-P-GD), a rare condition well known in adults, but not previously described in children.DesignWe conducted a university hospital-based observational study.MethodsAll patients with GD followed for more than 1 year between 2003 and 2013 (n=60) were included. T3-P-GD (group I) was defined as high free T3 (fT3) concentration (&gt;8.0 pmol/l) associated with a normal free thyroxine (fT4) concentration and undetectable TSH more than 1 month after the initiation of antithyroid drug (ATD) treatment. Group II contained patients with classical GD without T3-P-GD.ResultsEight (13%) of the patients were found to have T3-P-GD, a median of 6.3 (3.0–10.5) months after initial diagnosis (n=4) or 2.8 (2.0–11.9) months after the first relapse after treatment discontinuation (n=4). At GD diagnosis, group I patients were more likely to be younger (6.8 (4.3–11.0) vs 10.7 (7.2–13.7) years) and had more severe disease than group II patients, with higher serum TSH receptor autoantibodies (TRAb) levels: 40 (31–69) vs 17 (8–25) IU/l, P&lt;0.04, and with slightly higher serum fT4 (92 (64–99) vs 63 (44–83) pmol/l) and fT3 (31 (30–46) vs 25 (17–31) pmol/l) concentrations. During the 3 years following T3-P-GD diagnosis, a double dose of ATD was required and median serum fT4:fT3 ratio remained lower in group I than in group II.ConclusionSevere hyperthyroidism, with particularly high TRAb concentrations at diagnosis, may facilitate the identification of patients requiring regular serum fT3 determinations and potentially needing higher doses of ATD dosage during follow-up.</jats:sec

Neurological outcome in WDR62 primary microcephaly.

AIM To characterize the cortical structure, developmental, and cognitive profiles of patients with WD repeat domain 62 (WDR62)-related primary microcephaly. METHOD In this observational study, we describe the developmental, neurological, cognitive, and brain imaging characteristics of 17 patients (six males, 11 females; mean age 12y 3mo standard deviation [SD] 5y 8mo, range 5y-24y 6mo) and identify 14 new variants of WDR62. We similarly analyse the phenotypes and genotypes of the 59 previously reported families. RESULTS Brain malformations, including pachygyria, neuronal heterotopia, schizencephaly, and microlissencephaly, were present in 11 out of 15 patients. The mean full-scale IQ of the 11 assessed patients was 51.8 (standard deviation [SD] 12.6, range 40-70). Intellectual disability was severe in four patients, moderate in four, and mild in three. Scores on the Vineland Adaptive Behavior Scales obtained from 10 patients were low for communication and motor skills (mean 38.29, SD 7.74, and 37.71, SD 5.74 respectively). The socialization score was higher (mean 47.14, SD 12.39). We found a significant difference between scores for communication and daily living skills (mean 54.43, SD 11.6; p=0.001, one-way analysis of variance). One patient displayed progressive ataxia. INTERPRETATION WDR62-related cognitive consequences may be less severe than expected because 3 out of 11 of the assessed patients had only mild intellectual disability and relatively preserved abilities of autonomy in daily life. We identified progressive ataxia in the second decade of life in one patient, which should encourage clinicians to follow up patients in the long term