Pubmed du 02/09/09

Pubmed du jour

2009-09-02 12:03:50

1. {{What is Asperger syndrome?}} {J Pract Nurs};2009 (Summer);59(2):25.

2. {{What is autism?}} {J Pract Nurs};2009 (Summer);59(2):22-24.

3. Barthelemy C. {{[Autism: current issues, history and future perspectives]}}. {Bull Acad Natl Med};2009 (Feb);193(2):271-282; discussion 282-275.L’autisme: actualite, evolution des concepts et perspectives.

Autism affects one hundred thousand individuals in France This syndrome was first described as the earliest form of schizophrenic psychosis. It is now considered to be a biologically based pervasive neurodevelopmental, disorder affecting, from the first days of life, social communication and adjustment to the environment. Advances in the understanding of its clinical neurofunctional and genetic aspects have progressively modified conceptions and practices for diagnosis, exploration and therapeutics. This live-long complex handicap presents major challenges.

4. Bourgeron T, Leboyer M, Delorme R. {{[Autism: more evidence of a genetic cause]}}. {Bull Acad Natl Med};2009 (Feb);193(2):299-304; discussion 304-295.Autisme, la piste genetique se confirme.

Autism spectrum disorders (ASD) affect at least 1/200 individuals. They are characterized by impaired communication skills and social interaction, as well as restricted, repetitive and stereotyped behaviours. Recent studies point to a role of a synaptic pathway, including synaptic cell adhesion molecules (neuroligins and neurexins) and scaffolding proteins (SHANK3). Abnormal synapse formation/maintenance and an imbalance between GABAergic and glutamatergic synaptic currents seem to be involved in the etiology of ASD.

5. Brunelle F, Boddaert N, Zilbovicius M. {{[Autism and brain imaging]}}. {Bull Acad Natl Med};2009 (Feb);193(2):287-297; discussion 297-288.Autisme et imagerie cerebrale.

Our knowledge of brain defects in autistic patients has considerably improved since the advent of MRI and PET These imaging methods provide a precise anatomical picture of the brain and, above all, permit statistical comparisons. Visual inspection of brain MR images obtained in 77 children with autism revealed anomalies in the temporal lobe. Statistical analysis showed a loss of grey matter in the superior temporal sulcus of 21 children with autism. PET functional studies show reduced blood flow in the same region. No activation was seen in the superior temporal sulcus during presentation of complex sounds, contrary to normal children. All these studies are consistent with structural and functional anomalies of the superior temporal sulcus, a brain region involved in the treatment of the complex sensory inputs necessary for normal social interactions. These anomalies may at least partly explain the behavioural difficulties of children with autism.

6. Cummings AR, Carr JE. {{Evaluating progress in behavioral programs for children with autism spectrum disorders via continuous and discontinuous measurement}}. {J Appl Behav Anal};2009 (Spring);42(1):57-71.

We evaluated the influence of two different frequencies of data collection on skill acquisition and maintenance within behavioral treatment programs for children with autism spectrum disorders. Six children were taught multiple skills in up to four different behavioral programs. Half of the skills were measured continuously (i.e., trial by trial), and the other half were measured discontinuously (i.e., first trial only). When differences were detected, quicker acquisition was typically associated with discontinuous measurement, and stronger maintenance was typically associated with continuous measurement.

7. Embregts P, van Nieuwenhuijzen M. {{Social information processing in boys with autistic spectrum disorder and mild to borderline intellectual disabilities}}. {J Intellect Disabil Res};2009 (Aug 30)

Abstract Background Children with autistic spectrum disorders (ASD) and mild to borderline intellectual disability (ID) have less adaptive behaviour and more behaviour problems than children with mild to borderline ID. Social information processing appears to be an important mechanism in the explanation of the socially inadequate behaviour of children with mild to borderline ID; however, little is known about the social information processing skills of children with ASD and mild to borderline ID. Method In the present study, a total of 136 boys in the age of 10-14 years participated; 26 with ASD (specifically Pervasive Developmental Disorder – Not Otherwise Specified) and mild to borderline ID, 54 with mild to borderline ID without ASD and 56 typically developing boys. They completed the Social Problem Solving Test to measure their social information processing. Results The research results show boys with PDD-NOS and mild to borderline ID to differ from typically developing boys in their encoding of information; they focus on negative and emotional information in the social situation. They differ from boys with mild to borderline ID in response generation, evaluation of inadequate solutions (aggressive and submissive responses) and assertive response decision. Conclusions The present study extends our knowledge regarding social information processing of children with ASD (PDD-NOS) and mild to borderline ID. This knowledge may be helpful in designing and adapting programmes (e.g. social skills training, self-management training) for the management of behaviour problems and development of adaptive behaviour of children with ASD and mild to borderline ID.

8. Golse B, Robel L. {{[Towards an integrated approach to infantile autism: the superior temporal lobe between neurosciences and psychoanalysis]}}. {Bull Acad Natl Med};2009 (Feb);193(2):307-313.Pour une approche integrative de i’autisme infantile: le lobe temporal superieur entre neurosciences et psychanalyse.

The superior temporal lobe is currently at the focus of intensive research in infantile autism, a psychopathologic disorder apparently representing the severest failure of access to intersubjectivity, i.e. the ability to accept that others exist independently of oneself. Access to intersubjectivity seems to involve the superior temporal lobe, which is the seat of several relevant functions such as face and voice recognition and perception of others’ movements, and coordinates the different sensory inputs that identify an object as being « external ». The psychoanalytic approach to infantile autism and recent cognitive data are now converging, and intersubjectivity is considered to result from « mantling » or comodalization of sensory inputs from external objects. Recent brain neuroimaging studies point to anatomic and functional abnormalities of the superior temporal lobe in autistic children. Dialogue is therefore possible between these different disciplines, opening the way to an integrated view of infantile autism in which the superior temporal lobe holds a central place–not necessarily as a primary cause of autism but rather as an intermediary or a reflection of autistic functioning

9. Jeste SS, Friedman SL, Urion DK. {{Child neurology: autism as a model: considerations for advanced training in behavioral child neurology}}. {Neurology};2009 (Sep 1);73(9):733-735.

In this article, we advocate for advanced training for child neurologists in behavior and development in order to facilitate the investigation of childhood behavioral and neurodevelopmental disabilities, with autism serving as a model disorder. We explore the current training options and then propose alternative subspecialty training options that focus on behavior and development, with appreciation that most developmental disabilities are not static encephalopathies but, rather, dynamic processes representing the influence of genetics and environment on neural circuitry.

10. Kuczynski E, Bertola DR, Castro CI, Koiffmann CP, Kim CA. {{Infantile autism and 47,XYY karyotype}}. {Arq Neuropsiquiatr};2009 (Sep);67(3A):717-718.

11. Lawrence YA, Kemper TL, Bauman ML, Blatt GJ. {{Parvalbumin-, calbindin-, and calretinin-immunoreactive hippocampal interneuron density in autism}}. {Acta Neurol Scand};2009 (Aug 30)

Lawrence YA, Kemper TL, Bauman ML, Blatt GJ. Parvalbumin-, calbindin-, and calretinin-immunoreactive hippocampal interneuron density in autism. Acta Neurol Scand: DOI: 10.1111/j.1600-0404.2009.01234.x. (c) 2009 The Authors Journal compilation (c) 2009 Blackwell Munksgaard.Background – There has been a long-standing interest in the possible role of the hippocampus in autism and both postmortem brain and neuroimaging studies have documented varying abnormalities in this limbic system structure. Aims – This study investigates the density of subsets of hippocampal interneurons, immunostained with the calcium binding proteins, calbindin (CB), calretinin (CR) and parvalbumin (PV) to determine whether specific subpopulations of interneurons are impacted in autism. Materials and methods – Unbiased stereological techniques were used to quantify the neuronal density of these immunoreactive subpopulations of gamma-aminobutyric acid-ergic (GABAergic) interneurons analyzed in the CA and subicular fields in postmortem brain material obtained from five autistic and five age-, gender- and postmortem interval-matched control cases. Results – Results indicate a selective increase in the density of CB-immunoreactive interneurons in the dentate gyrus, an increase in CR-immunoreactive interneurons in area CA1, and an increase in PV-immunoreactive interneurons in areas CA1 and CA3 in the hippocampus of individuals with autism when compared with controls. Discussion/conclusions – Although our sample size is small, these findings suggest that GABAergic interneurons may represent a vulnerable target in the brains of individuals with autism, potentially impacting upon their key role in learning and information processing. These preliminary findings further suggest the need for future more expanded studies in a larger number of postmortem brain samples from cases of autism and controls.

12. Lima FT, Brunoni D, Schwartzman JS, Pozzi MC, Kok F, Juliano Y, Pereira Lda V. {{Genotype-phenotype correlation in Brazillian Rett syndrome patients}}. {Arq Neuropsiquiatr};2009 (Sep);67(3A):577-584.

BACKGROUND: Rett syndrome (RS) is a severe neurodevelopmental X-linked dominant disorder caused by mutations in the MECP2 gene. PURPOSE: To search for point mutations on the MECP2 gene and to establish a correlation between the main point mutations found and the phenotype. METHOD: Clinical evaluation of 105 patients, following a standard protocol. Detection of point mutations on the MECP2 gene was performed on peripheral blood DNA by sequencing the coding region of the gene. RESULTS: Classical RS was seen in 68% of the patients. Pathogenic point mutations were found in 64.1% of all patients and in 70.42% of those with the classical phenotype. Four new sequence variations were found, and their nature suggests patogenicity. Genotype-phenotype correlations were performed. CONCLUSION: Detailed clinical descriptions and identification of the underlying genetic alterations of this Brazilian RS population add to our knowledge of genotype/phenotype correlations, guiding the implementation of mutation searching programs.

13. MacDonald R, Sacramone S, Mansfield R, Wiltz K, Ahearn WH. {{Using video modeling to teach reciprocal pretend play to children with autism}}. {J Appl Behav Anal};2009 (Spring);42(1):43-55.

The purpose of the present study was to use video modeling to teach children with autism to engage in reciprocal pretend play with typically developing peers. Scripted play scenarios involving various verbalizations and play actions with adults as models were videotaped. Two children with autism were each paired with a typically developing child, and a multiple-probe design across three play sets was used to evaluate the effects of the video modeling procedure. Results indicated that both children with autism and the typically developing peers acquired the sequences of scripted verbalizations and play actions quickly and maintained this performance during follow-up probes. In addition, probes indicated an increase in the mean number of unscripted verbalizations as well as reciprocal verbal interactions and cooperative play. These findings are discussed as they relate to the development of reciprocal pretend-play repertoires in young children with autism.

14. Schrandt JA, Townsend DB, Poulson CL. {{Teaching empathy skills to children with autism}}. {J Appl Behav Anal};2009 (Spring);42(1):17-32.

The purpose of this study was to teach empathetic responding to 4 children with autism. Instructors presented vignettes with dolls and puppets demonstrating various types of affect and used prompt delay, modeling, manual prompts, behavioral rehearsals, and reinforcement to teach participants to perform empathy responses. Increases in empathetic responding occurred systematically with the introduction of treatment across all participants and response categories. Furthermore, responding generalized from training to nontraining probe stimuli for all participants. Generalization occurred from dolls and puppets to actual people in a nontraining setting for 2 participants. Generalization was observed initially to the nontraining people and setting for the other participants, but responding subsequently decreased to baseline levels. Introduction of treatment in this setting produced rapid acquisition of target skills.