Pubmed du 25/06/09

vendredi 26 juin 2009

1. d’Orsi G, Demaio V, Scarpelli F, Calvario T, Minervini MG. Central sleep apnoea in Rett syndrome. Neurol Sci ;2009 (Jun 25)

Breathing disturbances in Rett syndrome were reported almost entirely during wakefulness, with normal respiration during sleep. We studied a case of a proven MECP2 mutation in a girl, whose videopolygraphic and polysomnographic monitoring suggested the evidence of central apnoeas not only during awake, but also during sleep. Apart from prevalent awake respiratory dysfunction, central apnoeas in Rett syndrome may be also present during sleep.

2. Fernell E. Triumphs in early autism treatment. Acta Paediatr ;2009 (Jun 22)

3. James WH. Sex ratio of siblings of children diagnosed with autism spectrum disorder. Dev Med Child Neurol ;2009 (Jun 22)

4. Kumar A, Sarvananthan N, Proudlock F, Thomas M, Roberts E, Gottlob I. Asperger syndrome associated with idiopathic infantile nystagmus—a report of 2 cases. Strabismus ;2009 (Apr-Jun) ;17(2):63-65.

Asperger syndrome is a severe and chronic developmental disorder. It is closely associated with autism and is grouped under autism spectrum disorder (ASD). Various eye movement abnormalities in AS have been reported in literature such as increased errors and latencies on the antisaccadic task implicating dysfunction of the prefrontal cortex, impairment of the pursuit especially for targets presented in the right visual hemisphere, suggesting disturbance in the left extrastraite cortex. There are no reports in the literature of association between idiopathic infantile nystagmus (IIN) and AS. We report 2 cases of Asperger syndrome associated with idiopathic infantile nystagmus.

5. Mouridsen SE, Rich B, Isager T. Sibling sex ratio of individuals diagnosed with autism spectrum disorder as children. Dev Med Child Neurol ;2009 (Jun 22)

Aim To study the sex ratio (proportion of males) in siblings of individuals diagnosed with autism spectrum disorders (ASDs) as children. Method In the current study, we extended previous studies dealing with the androgen theory of autism and examined sex ratios in the siblings of 326 individuals with ASD (245 males, 81 females) who had been consecutively assessed at two Danish university clinics of child psychiatry during the 25-year period from 1960 to 1985. Results Among the 513 siblings, 300 were males and 213 females. This yields a sex ratio of 0.585, which is significantly higher than the Danish live-birth sex ratio over the same period (0.514, p=0.001). The sibling sex ratio was not associated with the IQ in the autistic probands. Interpretation Our findings suggest a potential indirect confirmation of the androgen theory of autism.

6. Posserud M, Lundervold AJ, Lie SA, Gillberg C. The prevalence of autism spectrum disorders : impact of diagnostic instrument and non-response bias. Soc Psychiatry Psychiatr Epidemiol ;2009 (Jun 24)

BACKGROUND : A large part of the variability in rates of autism spectrum disorders (ASD) across studies is non-aetiologic, and can be explained by differences in diagnostic criteria, case-finding method, and other issues of study design. AIM : To investigate the effects on ASD prevalence of two methodological issues ; non-response bias and case ascertainment. We compared the findings of using a semi-structured parent interview versus in-depth clinical assessment, including an ASD specific interview. We further explored whether including information on non-responders affected the ASD prevalence estimate. METHOD : A total population of 7- to 9-year olds (N = 9,430) was screened for ASD with the autism spectrum screening questionnaire (ASSQ) in the Bergen Child Study (BCS). Children scoring above the 98th percentile on parent and/or teacher ASSQ were invited to participate in the second and subsequently in the third phase of the BCS where they were assessed for ASD using the Development and Well-Being Assessment (DAWBA), and the Diagnostic Interview for Social and Communication disorders (DISCO), respectively. RESULTS : Clinical assessment using DISCO confirmed all DAWBA ASD cases, but also diagnosed additional cases. DISCO-generated minimum prevalence for ASD was 0.21%, whereas estimated prevalence was 0.72%, increasing to 0.87% when adjusting for non-responders. The DAWBA estimate for the same population was 0.44%. CONCLUSION : Large variances in prevalence rates across studies can be explained by methodological differences. Both information about assessment method and non-response are crucial when interpreting prevalence rates of ASD.

7. 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 (Jun 25) ;211(1-2):39-48.

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.

8. Terry M. Telemedicine and autism : researchers and clinicians are just starting to consider telemedicine applications for the diagnosis and treatment of autism. Telemed J E Health ;2009 (Jun) ;15(5):416-419.


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