CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders

Contactin genes CNTN5 and CNTN6 code for neuronal cell adhesion molecules that promote neurite outgrowth in sensory-motor neuronal pathways. Mutations of CNTN5 and CNTN6 have previously been reported in individuals with autism spectrum disorders (ASDs), but very little is known on their prevalence and clinical impact. In this study, we identified CNTN5 and CNTN6 deleterious variants in individuals with ASD. Among the carriers, a girl with ASD and attention-deficit/hyperactivity disorder was carrying five copies of CNTN5. For CNTN6, both deletions (6/1534 ASD vs 1/8936 controls; P=0.00006) and private coding sequence variants (18/501 ASD vs 535/33480 controls; P=0.0005) were enriched in individuals with ASD. Among the rare CNTN6 variants, two deletions were transmitted by fathers diagnosed with ASD, one stop mutation CNTN6W923X was transmitted by a mother to her two sons with ASD and one variant CNTN6P770L was found de novo in a boy with ASD. Clinical investigations of the patients carrying CNTN5 or CNTN6 variants showed that they were hypersensitive to sounds (a condition called hyperacusis) and displayed changes in wave latency within the auditory pathway. These results reinforce the hypothesis of abnormal neuronal connectivity in the pathophysiology of ASD and shed new light on the genes that increase risk for abnormal sensory perception in ASD

Dielectric and pyroelectric studies on the Ba1−3aBi2aTiO3 classical and relaxor ferroelectric ceramics

Low frequency dielectric studies in the temperature range 80–500 K were performed on the solid solution derived from BaTiO3, Ba1−3aBi2aTiO3..

Dielectric Raman studies on the solid solution (1-x)BaTiO3/xNaNbO3 ceramics

In order to elucidate the correlation between the relaxor type of phase transition and the percent of the A and B site substitution in the Ba1−xNax Ti1−xNbxO3 solid solution, the dielectric permittivity was carried out in the temperature range 80–600 K. All ceramics of these solid solutions present a ferroelectric–paraelectric phase transition with relaxor and classical character depending on the value of x

Dielectric Raman studies on the solid solution (1-x)BaTiO3/xNaNbO3 ceramics

In order to elucidate the correlation between the relaxor type of phase transition and the percent of the A and B site substitution in the Ba1−xNax Ti1−xNbxO3 solid solution, the dielectric permittivity was carried out in the temperature range 80–600 K. All ceramics of these solid solutions present a ferroelectric–paraelectric phase transition with relaxor and classical character depending on the value of x

The new accelerator control system of GANIL

International audienceThe new computer control system has operated the heavy ion accelerator GANIL from the beginning of 1993 and has reached a state of routine operation. It supersedes the obsolete initial system to cope with the harsh experimental conditions required by the very high intensity beams expected in the near future. Hardware and software implementations, as well as the human interface, are presented. Emphasis is placed on the three-layer distributed architecture adopted. An Ethernet local area network (LAN) links the basic components: a VAX/VMS cluster, XWINDOWS-interfaced operator consoles, VAXELN-driven CAMAC crate controllers and programmable logic controllers for the front end controls. Also the data management, through the INGRES relational database management system (RDBMS), as well as the operating software written in ADA, are described. The early experience with the new control system is reported and future developments discussed