Pubmed du 5/08/09

lundi 24 août 2009

1. Areta JE. [Two main mistakes in classificatory and clinical function of DSM-IV, in the case of differential diagnosis between Asperger and Autistic Disorder.]. Vertex ;2009 (May-Jun) ;20(85):174-183.Dos errores basales en la funcion clasificatoria y clinica del DSM-IV respecto del diagnostico diferencial entre Trastorno Autista y Trastorno de Asperger.

Symptomatic description of what the DSM-IV understands for Asperger’s and Autistic Disorder was analyzed. As a result of this revision there was found that a great amount of diagnostic criteria overlap, and lead to the impossibility to make a clear differential diagnosis. The classifying function is, thus, criticized. The clinical function of this diagnostic distinction is analyzed through a clinical case. It is shown it’s lack of utility when a therapeutic method should be implemented in a case of Autistic Disorder. It is concluded that the statistical value of the results obtained by using this classificatory instrument should be examined due to this lack of distinction. Also, according to the therapeutic approach witch the author makes reference, it is shown that the diagnostic of any both disorders does not modify the general intervention strategy.

2. Baker KF, Montgomery AA, Abramson R. Brief Report : Perception and Lateralization of Spoken Emotion by Youths with High-Functioning Forms of Autism. J Autism Dev Disord ;2009 (Aug 4)

3. Broderick AA. Autism, "Recovery (to Normalcy)," and the Politics of Hope. Intellect Dev Disabil ;2009 (Aug) ;47(4):263-281.

4. Gilger MA, Redel CA. Autism and the gut. Pediatrics ;2009 (Aug) ;124(2):796-798.

5. Ibrahim SH, Voigt RG, Katusic SK, Weaver AL, Barbaresi WJ. Incidence of gastrointestinal symptoms in children with autism : a population-based study. Pediatrics ;2009 (Aug) ;124(2):680-686.

6. Kennedy DP. Neural correlates of autistic traits in the general population : insights into autism. Am J Psychiatry ;2009 (Aug) ;166(8):849-851.

7. Raizis AM, Saleem M, MacKay R, George PM. Spectrum of MECP2 mutations in New Zealand Rett syndrome patients. N Z Med J ;2009 ;122(1296):21-28.

BACKGROUND : Classical Rett syndrome is a severe neurodevelopmental X-linked dominant disorder affecting 1/15,000 girls worldwide. MECP2 has been identified as the predominant gene associated with Rett syndrome. Approximately 65-85% of patients with classical Rett syndrome have identifiable MECP2 mutations. In comparison, up to 57% of patients with atypical Rett have mutations in the MECP2 gene. OBJECTIVES : To investigate the spectrum and frequency of MECP2 mutations in New Zealand Rett syndrome patients and evaluate whether available clinical criteria were sufficient to direct molecular testing for Rett syndrome. PATIENTS : and Methods MECP2 coding regions were analysed by direct automated DNA sequencing and multiplex ligation dependent probe assay (MLPA) in samples from 74 patients referred for investigation of possible Rett syndrome. Necessary clinical criteria were examined in detail in 18 patients, with 7/18 having identifiable MECP2 mutations. RESULTS : Fifteen patients (20%) carried MECP2 mutations, four of which were novel (one insertion mutation, one complex rearrangement and two deletions). Eleven previously described disease-causing sequence changes and several known polymorphisms were also detected. Ninety per cent of the observed point mutations were cytosine to thymidine (C to T) transitions at a CpG dinucleotide. Only three patients with MECP2 mutations displayed all major clinical criteria associated with Rett syndrome, four were atypical cases. Of the patients not having an identified MECP2 mutation, 8 out of 11 had clinical criteria consistent with variant Rett syndrome and one of these had a balanced translocation involving chromosomes 2p25 and 6p11-12. CONCLUSIONS : This is the first genetic study of Rett syndrome in New Zealand patients describing the MECP2 mutational spectrum. The relatively low observed frequency of MECP2 mutations reflects a wide spectrum of mental disability disorders. In some cases there were insufficient clinical criteria to justify referral for Rett gene testing.

8. Reichow B, Volkmar FR. Social Skills Interventions for Individuals with Autism : Evaluation for Evidence-Based Practices within a Best Evidence Synthesis Framework. J Autism Dev Disord ;2009 (Aug 5)

This paper presents a best evidence synthesis of interventions to increase social behavior for individuals with autism. Sixty-six studies published in peer-reviewed journals between 2001 and July 2008 with 513 participants were included. The results are presented by the age of the individual receiving intervention and by delivery agent of intervention. The findings suggest there is much empirical evidence supporting many different treatments for the social deficits of individuals with autism. Using the criteria of evidence-based practice proposed by Reichow et al. (Journal of Autism and Developmental Disorders, 38:1311-1318, 2008), social skills groups and video modeling have accumulated the evidence necessary for the classifications of established EBP and promising EBP, respectively. Recommendations for practice and areas of future research are provided.

9. Russo AJ, Neville L, Wroge C. Low Serum Alpha-1 Antitrypsin (AAT) in Family Members of Individuals with Autism Correlates with PiMZ Genotype. Biomark Insights ;2009 ;4:45-56.

AIM : Deficiency of Alpha-1-antitrypsin (AAT) can be a genetic condition that increases the risk of developing liver, lung and possibly gastrointestinal disease. Since many autistic children also have gastrointestinal disorders, this study was designed to measure serum concentration of AAT and establish AAT genotypes in autistic children, age and gender matched non-autistic siblings, parents and controls. SUBJECTS AND METHODS : We used an indirect ELISA with monoclonal IgG to AAT to measure AAT serum concentrations in 71 members from 16 families of individuals with autism and 18 controls (no family history of autism). We used a duplex polymerase chain reaction to detect M, S and Z alleles for alpha-1 antitrypsin expression in 52 members of 12 of the above families. RESULTS : A significantly high number of autistic family members had lower than normal serum levels of AAT when compared to controls. Autistic children with regressive onset had significantly lower levels of AAT compared to controls, and a significant number of autistic children with low serum AAT also had hyperbilirubinemia, gastrointestinal disease and respiratory problems. We also found that a significantly high number of these individuals had the PiMZ genotype and correspondingly low levels of serum alpha-1 antitrypsin. DISCUSSION : Knowing that low levels of alpha-1 antitrypsin may be inherited, and that low levels of AAT may be associated with GI disease in autistic children, genotyping autistic children may help identify individuals susceptible to developing digestive problems.

10. Schwartz C, Bente G, Gawronski A, Schilbach L, Vogeley K. Responses to Nonverbal Behaviour of Dynamic Virtual Characters in High-Functioning Autism. J Autism Dev Disord ;2009 (Aug 4)

We investigated feelings of involvement evoked by nonverbal behaviour of dynamic virtual characters in 20 adults with high-functioning autism (HFA) and high IQ as well as 20 IQ-matched control subjects. The effects of diagnostic group showed that subjects with autism experienced less "contact" and "urge" to establish contact across conditions and less "interest" than controls in a condition with meaningful facial expressions. Moreover, the analyses within groups revealed that nonverbal behaviour had less influence on feelings in HFA subjects. In conclusion, disturbances of HFA subjects in experiencing involvement in social encounters with virtual characters displaying nonverbal behaviour do not extend to all kinds of feelings, suggesting different pathways in the ascription of involvement in social situations.

11. Smith LE, Hong J, Seltzer MM, Greenberg JS, Almeida DM, Bishop SL. Daily Experiences Among Mothers of Adolescents and Adults with Autism Spectrum Disorder. J Autism Dev Disord ;2009 (Aug 5)

In the present study, 96 co-residing mothers of adolescents and adults with an autism spectrum disorder (ASD) participated in an 8-day diary study and reported on their daily experiences. In comparison with a nationally representative sample of mothers of children without disabilities, mothers of adolescent and adult children with ASD spent significantly more time providing childcare and doing chores, and less time in leisure activities. Fatigue, arguments, avoided arguments, and stressful events were also more common among mothers of individuals with ASD. However, mothers of individuals with ASD reported similar levels of positive interactions and volunteerism as the comparison group. Daily experiences were subsequently related to well-being in both groups. These findings highlight the need for family support services.

12. Wasilewska J, Jarocka-Cyrta E, Kaczmarski M. [Gastrointestinal abnormalities in children with autism]. Pol Merkur Lekarski ;2009 (Jul) ;27(157):40-43.Patogeneza zaburzen przewodu pokarmowego u dzieci z autyzmem.

The autistic spectrum disorder (ASD) is a neurodevelopmental disorder characterized by socially aloof behavior and impairment of language and social interaction. This paper is a review of literature on gastrointestinal problems in children with ASD. Gastrointestinal symptoms are described in 9-54% of autistic children, among which most common are : constipation, diarrhea and abdominal distension. The gastro-intestinal abnormalities reported in autism include : inflammation (esophagitis, gastritis, duodenitis, enterocolitis) with or without autoimmunity, lymphoid nodular hyperplasia, increased intestinal permeability, low activities of disaccharidase enzymes, impairment of detoxification (e.g. defective sulfation of ingested phenolic amines), dysbiosis with bacterial overgrowth, food intolerance or exorphin intoxication (by opioid derived from casein and gluten). A beneficial effect of dietary intervention on behavior and cognition of some autistic children indicates a functional relationship between the alimentary tract and the central nervous system. There are no epidemiologic data concerning the incidence or prevalence of gastrointestinal problems within the population of children with ASD in comparison to the population of non-ASD children.


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