Pubmed du 14/04/09

mercredi 15 avril 2009

1. Artuso R, Mencarelli MA, Polli R, Sartori S, Ariani F, Pollazzon M, Marozza A, Cilio MR, Specchio N, Vigevano F, Vecchi M, Boniver C, Bernardina BD, Parmeggiani A, Buoni S, Hayek G, Mari F, Renieri A, Murgia A. Early-onset seizure variant of Rett syndrome : Definition of the clinical diagnostic criteria. Brain Dev ;2009 (Apr 9)

Background : Rett syndrome is a severe neurodevelopmental disorder affecting almost exclusively females. Among Rett clinical variants, the early-onset seizure variant describes girls with early onset epilepsy and it is caused by mutations in CDKL5. Methods : Four previously reported girls and five new cases with CDKL5 mutation, ranging from 14months to 13years, were evaluated by two clinical geneticists, classified using a severity score system based on the evaluation of 22 different clinical signs and compared with 128 classic Rett and 25 Zappella variant MECP2-mutated patients, evaluated by the same clinical geneticists. Clinical features were compared with previously described CDKL5 mutated patients. Both the statistical and the descriptive approach have been used to delineate clinical diagnostic criteria. Results : All girls present epilepsy with onset varying from 10days to 3months. Patients may present different type of seizures both at onset and during the whole course of the disease ; multiple seizure types may also occur in the same individual. After treatment with antiepileptic drugs patients may experience a short seizure-free period but epilepsy progressively relapses. Typical stereotypic hand movements severely affecting the ability to grasp are present. Psychomotor development is severely impaired. In the majority of cases head circumference is within the normal range both at birth and at the time of clinical examination. Conclusion : For the practical clinical approach we propose to use six necessary and eight supportive diagnostic criteria. Epilepsy with onset between the first week and 5months of life, hand stereotypies, as well as severe hypotonia, are included among the necessary criteria.

2. Cotugno AJ. Social Competence and Social Skills Training and Intervention for Children with Autism Spectrum Disorders. J Autism Dev Disord ;2009 (Apr 14)

This study examined the effectiveness of a 30 week social competence and social skills group intervention program with children, ages 7-11, diagnosed with Autism Spectrum Disorders (ASD). Eighteen children with ASD were assessed with pretreatment and posttreatment measures on the Walker-McConnell Scale (WMS) and the MGH YouthCare Social Competence Development Scale. Each received the 30-week intervention program. For comparison, a matched sample of ten non-ASD children was also assessed, but received no treatment. The findings indicated that each ASD intervention group demonstrated significant gains on the WMS and significant improvement in the areas of anxiety management, joint attention, and flexibility/transitions. Results suggest that this approach can be effective in improving core social deficits in individuals with ASD.

3. Glascoe FP, Squires JK. Re : Screening strategies for autism spectrum disorder in pediatric primary care. J Dev Behav Pediatr ;2009 (Apr) ;30(2):174 ; author reply 174-175.

4. Paul R. Parents Ask : Am I Risking Autism if I Vaccinate my Children ? J Autism Dev Disord ;2009 (Apr 11)

5. Singer HS, Morris C, Gause C, Pollard M, Zimmerman AW, Pletnikov M. Prenatal exposure to antibodies from mothers of children with autism produces neurobehavioral alterations : A pregnant dam mouse model. J Neuroimmunol ;2009 (Apr 9)

A pregnant mouse model was used to compare the effect of IgG, administered E13-E18, from mothers of children with autistic disorder (MCAD), to controls (simple- and IgG-) on behavioral testing in offspring. Mice, exposed in-utero to MCAD-IgG, as adolescents, were more active during the first ten minutes of central field novelty testing and, as adults, displayed anxiety-like behavior on a component of the elevated plus maze and had a greater magnitude of startle following acoustic stimulation. On a social interaction paradigm, adult mice had alterations of sociability. Pilot studies of immune markers in MCAD IgG-exposed embryonic brains suggest evidence of cytokine and glial activation. These studies demonstrate that the transplacental passage of IgG from MCAD is capable of inducing long-term behavioral consequences.











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