Phenotype-genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature.

Array comparative genomic hybridization (array CGH) has proven its utility in uncovering cryptic rearrangements in patients with X-linked intellectual disability. In 2009, Giorda et al. identified inherited and de novo recurrent Xp11.

Further delineation of eye manifestations in homozygous 15q13.3 microdeletions including TRPM1: a differential diagnosis of ceroid lipofuscinosis.

The 15q13.3 heterozygous microdeletion is a fairly common microdeletion syndrome with marked clinical variability and incomplete penetrance. The average size of the deletion, which comprises six genes including CHRNA7, is 1.

Effect of multifibre mixture with prebiotic components on bifidobacteria and stool pH in tube-fed children.

The objective of the present study was to evaluate the effect of a paediatric tube feed supplemented with a multifibre mixture on the gut microbiota and nutritional and micronutrient status of children on long-term enteral nutrition (EN). A randomised, controlled, double-blind, cross-over trial (2 × 3 months) with a washout period of 1 month was carried out. Twenty-seven children (80% neurologically impaired) aged 11.

Neuropsychological profile on the WISC-IV of French children with dyslexia.

This study examined the pattern of results on the Wechsler Intelligence Scale for Children (WISC-IV; French version) for 60 French children with dyslexia, from 8 to 16 years of age. Although use of WISC-III failed to clearly identify typical profiles and cognitive deficits in dyslexia, WISC-IV offers an opportunity to reach these objectives with new indexes and subtests. The mean performance analysis showed a Working Memory Index (WMI) at a limit level, significantly lower compared to the three other indexes.

[Assessment of the management of acute otitis media in children by family practitioners in the North of France].

Objectives: To assess the management of acute otitis media in children by paediatricians and general practitioners in the North of France compared with the AFSSAPS (Agence Française de Sécurité Sanitaire des Produits de Santé) guideline's recommendations of 2005.

Methodology: All eligible family paediatricians (n=68) and a group of general practitioners (n=200) first received a phone call invitation to participate to the study. The volunteers responded to a questionnaire by phone call.

Anticonvulsant effects of linolenic acid are unrelated to brain phospholipid cell membrane compositions.

Purpose: Recent studies have revealed that polyunsaturated fatty acids (PUFAs) have anticonvulsive properties. Clinical trials using PUFAs reported conflicting results. It was suggested that PUFAs have anticonvulsant effects via modifications of brain phospholipids.