Pubmed du 3/09/09

vendredi 4 septembre 2009

1. Ghanizadeh A, Alishahi MJ, Ashkani H. Helping families for caring children with autistic spectrum disorders. Arch Iran Med ;2009 (Sep) ;12(5):478-482.

Many families are directly involved in caring of their children with the lifelong autistic spectrum disorders. Sometimes, they are the victims of their children’s behaviors. The family, including siblings, may have to explain the children’s behaviors to others. Their mothers have poorer mental health with difficulties in family adaptability and cohesion. Its burden is not just limited to psychologic aspects but on the quality of life, economic aspects, and parent-child relationship. This is a narrative review of some of the aspects that families of children with autistic spectrum disorders are facing.

2. Liang JS, Shimojima K, Ohno K, Sugiura C, Une Y, Ohno K, Yamamoto T. A newly recognised microdeletion syndrome of 2p15-16.1 manifesting moderate developmental delay, autistic behaviour, short stature, microcephaly, and dysmorphic features : a new patient with 3.2 Mb deletion. J Med Genet ;2009 (Sep) ;46(9):645-647.

3. Medrihan L, Rohlmann A, Fairless R, Andrae J, Doring M, Missler M, Zhang W, Kilimann MW. Neurobeachin, a protein implicated in membrane protein traffic and autism, is required for the formation and functioning of central synapses. J Physiol ;2009 (Sep 1)

The development of neuronal networks in the brain requires the differentiation of functional synapses. Neurobeachin (Nbea) was identified as a putative regulator of membrane protein trafficking associated with tubulovesicular endomembranes and postsynaptic plasma membranes. Nbea is essential for evoked transmission at neuromuscular junctions, but its role in the central nervous system has not been characterized. Here, we have studied central synapses of a newly generated gene-trap KO mouse line at embryonic day 18, because null-mutant mice are paralyzed and die perinatally. Although the overall brain architecture was normal, we identified major abnormalities of synaptic function in mutant animals. In acute slices from the brainstem, both spontaneous excitatory and inhibitory postsynaptic currents were clearly reduced and failure rates of evoked inhibitory responses were markedly increased. In addition, the frequency of miniature excitatory and both the frequency and amplitudes of miniature inhibitory postsynaptic currents were severely diminished in KO mice, indicating a perturbation of both action potential-dependent and -independent transmitter release. Moreover, Nbea appears to be important for the formation and composition of central synapses because the area density of mature asymmetric contacts in the fetal brainstem was reduced to 30% of wild-type levels, and the expression levels of a subset of synaptic marker proteins were smaller than in littermate controls. Our data demonstrate for the first time a function of Nbea at central synapses that may be based on its presumed role in targeting membrane proteins to synaptic contacts, and are consistent with the "excitatory-inhibitory imbalance" model of autism where Nbea gene rearrangements have been detected in some patients.

4. Ouellette-Kuntz HM, Coo H, Lam M, Yu CT, Breitenbach MM, Hennessey PE, Holden JJ, Brown HK, Noonan AL, Gauthier RB, Crews LR. Age at diagnosis of autism spectrum disorders in four regions of Canada. Can J Public Health ;2009 (Jul-Aug) ;100(4):268-273.

OBJECTIVES : Early diagnosis of autism spectrum disorders ("autism") may lead to better treatment outcomes, reduces the stress parents experience when they do not understand the reasons for their child’s behaviour, and empowers parents to make choices such as seeking genetic counseling. We examined the age at which Canadian children are diagnosed with autism, and analyzed whether there are geographic or temporal variations or differences by sex or diagnostic subtype. METHODS : As part of an autism surveillance program, in 2002/2003 we began collecting information on children with autism in Manitoba, Southeastern Ontario, Prince Edward Island, and Newfoundland and Labrador. For the analysis presented in this paper, we included children identified for our surveillance program who were diagnosed between 1997 and 2005 (n = 769). RESULTS : We found significant inter-regional differences in age at diagnosis, with Newfoundland and Labrador having the lowest median age at diagnosis (39.0 months) and Southeastern Ontario the highest (55.0 months). Diagnostic subtype was significantly associated with age at diagnosis in all regions. Southeastern Ontario was the only region where the overall age at diagnosis increased over time (p = 0.004), although in Manitoba the age at which children were diagnosed with PDD-NOS also increased significantly over the study period (p = 0.021). CONCLUSIONS : Our findings demonstrate that there are geographic differences and other sources of variation in the age at which Canadian children are diagnosed with autism. Further study is warranted to understand the factors contributing to these differences. Such research would inform best practices for early detection and timely access to treatment.


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