Delineation of 15q13.3 microdeletions.

The increasing use of array-comparative genomic hybridization (array-CGH) to identify copy number variations (CNVs) in patients with developmental delay (DD), mental retardation and/or dysmorphic features has allowed the recent recognition of numerous genomic imbalances, including the 15q13.3 microdeletion. Patients with this microdeletion generally present with relatively consistent breakpoints at BP4 and BP5, which include the CHRNA7 gene. About 100 index cases have been reported since the first publication in 2008. This large number of patients ascertained through highly variable samples has been necessary to describe the full phenotypic spectrum of this microdeletion, ranging from mental retardation with dysmorphic features, epilepsy, neuropsychiatric disturbances with or without cognitive impairment to complete absence of anomalies. Here, we describe a collaborative study reporting a new cohort of 12 index patients and 13 relatives carrying a heterozygous BP4-BP5 microdeletion out of a series of 4625 patients screened by array-CGH for DD. We confirm the clinical expressivity of the disease as well as the incomplete penetrance in seven families. We showed through a review of the literature that males are more likely to be symptomatic. Sequence analysis of CHRNA7 yielded no data to support the unmasking of recessive variants as a cause of phenotypic variability. We also report the first patient carrying a 15q13.3 homozygous microdeletion inherited from both parents. He had severe epileptic encephalopathy with retinopathy, autistic features and choreoathetosis. Besides the classical approximately 1.5 Mb BP4-BP5 microdeletion, we also describe three index patients and two relatives with a smaller 500 kb microdeletion, including the CHRNA7 gene.

["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.

High prevalence of Helicobacter pylori infection in cohabiting children. Epidemiology of a cluster, with special emphasis on molecular typing.

Intrafamilial cases of infection with the same strain of Helicobacter pylori (H pylori) have been reported but these clusters were too small to distinguish between person to person spread or coinfection from a common environmental source. To gain more information on the mode of transmission of H pylori, an epidemiological survey with bacterial strain differentiation by restriction endonuclease analysis of chromosomal DNA was carried out in an institution of 117 children with encephalopathy (aged 3.5 to 19 years). All children with antibodies against H pylori had gastroscopy to obtain gastric biopsy specimens. The prevalence of infection (confirmed histologically or microbiologically, or both) was 38% (45/117), and rose to 67% in one of the five sections of the institution. H pylori was isolated in 34/45 cases, and 22 different strains were found of which five strains were present in more than one child. Up to seven children were infected by the same strain, five of them were living in the same section. Analysis of the characteristics of infected children showed the predominant role of living conditions and the period of time cohabiting in this unexpectedly high prevalence of H pylori infection in children living in good sanitary conditions.