1. Benach JL, Li E, McGovern MM. {{A microbial association with autism}}. {MBio};2012;3(1)
ABSTRACT Autism is a heterogeneous group of complex developmental disabilities that result from a number of possible etiologies. There are a well-known number of comorbidities associated with autism spectrum disorders (ASD), including, commonly, gastrointestinal (GI) pathology, which can include variable combinations of constipation, diarrhea, abdominal pain, gastroesophageal reflux, and vomiting. An American Academy of Pediatrics consensus panel has recommended that prospective studies be carried out to determine the prevalence of GI disorders in ASD and their pathophysiologic basis. In a recent article, Williams et al. [B. L. Williams, M. Hornig, T. Parekh, and W. I. Lipkin, mBio 3(1):e00261-11, 2012] have provided one such study of autism with GI comorbidities by presenting evidence of Sutterella species in ileal mucosal biopsy specimens from patients diagnosed with ASD but not in control children with GI symptoms, suggesting a specific role for Sutterella in ASD. Sutterella sequences represented ~1 to 7% of the total bacterial sequences, and this is a very large effect size on the ileal mucosal composition of the autism phenotype, rivaling or perhaps exceeding the effect size of the ileal Crohn’s disease phenotype. This study opens a new field of investigation to study the etiology or consequences of GI comorbidities in ASD.
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2. Carrascosa-Romero MC, Suela J, Alfaro-Ponce B, Cepillo-Boluda AJ. {{[X-chromosome-linked ichthyosis associated to epilepsy, hyperactivity, autism and mental retardation, due to the Xp22.31 microdeletion]}}. {Rev Neurol};2012 (Feb 16);54(4):241-248.
X-chromosome-linked ichthyosis is caused by mutation or deletion of the STS gene associated with a deficiency of the enzyme steroid sulphatase, located in the distal part of the short arm of the X chromosome (Xp22.3-pter), close to the pseudo-autosomal region. Depending on its size, it can present as an isolated entity or combined with a syndrome caused by neighbouring genes, thus associating itself with other monogenic diseases as well as other mental disorders. The most relevant findings from the literature review are the importance of the Xp22.3-pter region and the higher incidence of neurological disorders among males (attention deficit hyperactivity disorder, autism and X-linked mental retardation). The role and implication of these genes in the disease are discussed and the authors suggest a possible contribution of the gene PNPLA4, which was originally described as GS2 and codes for calcium-independent phospholipase A2 beta, involved in lipoprotein metabolism, as one of the causes of autism. Improvements have been observed following treatment with citicoline, thanks to the role this nootropic plays in the biosynthesis of structural phospholipids involved in the formation and repair of the neuronal membrane.
3. Lin LY, Yu SN, Yu YT. {{A study of activities of daily living and employment in adults with autism spectrum disorders in Taiwan}}. {Int J Rehabil Res};2012 (Feb 13)
Research on daily living activities and employment levels of adults with autism spectrum disorders (ASD) in Taiwan is limited. The aims of the study were to investigate outcomes related to functional independence and employment among people with ASD in Taiwan. We investigated the daily living activities and the employment status of 81 adults (age range, 18-48 years; mean age, 22.8 years) with ASD in southern Taiwan. Most (85.2%) participants with ASD were men, and all lived with their caregivers or guardians. Primary caregivers or guardians completed a self-administered, written questionnaire. More than three-quarters (80.2%) of the participants with ASD could independently take care of themselves. Instrumental activities of daily living they most frequently engaged in included walking outside for more than 15 min (88.9%), light housework (85.2%), and local shopping (80.2%). Only 11 (13.6%) of the participants with ASD were employed [five (6.2%) worked more than 20 h/week] and four (4.9%) were attending school. Types of occupation consisted of serving food and beverages, baking, and cleaning. Most (81.5%) of the participants with ASD were unemployed, stayed at home, and were cared for by family members. The results of this study provide information to support the design of adequate interventions to meet the needs of adults with ASD, particularly those in Taiwan. It is important to develop adequate interventions to facilitate the functional independence of this population. Future research using larger study populations with a comparison group is needed.Aktivitaten des taglichen Lebens und der Erwerbsstatus von Erwachsenen mit Autismusspektrum-Storungen (ASD) in Taiwan gelten als bisher nur unzureichend erforscht. Ziel der vorliegenden Studie war die Untersuchung von Ergebnissen bzgl. der funktionalen Selbstandigkeit und Erwerbstatigkeit von Personen mit ASD in Taiwan. Wir untersuchten die Aktivitaten des taglichen Lebens und den Erwerbsstatus von 81 Erwachsenen (Altersgruppe: 18-48 Jahre; mittleres Alter: 22.8 Jahre) mit ASD in Sud-Taiwan. Die meisten (85.2%) Teilnehmer mit ASD waren Manner, die alle mit ihren Betreuern oder Vormunden lebten. Die Hauptbetreuer oder Vormunde fullten einen schriftlichen Fragebogen zur Bedarfsfeststellung aus. Mehr als drei Viertel (80.2%) der Teilnehmer mit ASD waren in der Lage, sich ohne Hilfe selbst zu versorgen. Zu den instrumentellen Aktivitaten des taglichen Lebens, mit denen sie sich am haufigsten beschaftigten, zahlten Spaziergange langer als 15 Minuten (88.9%), leichte Hausarbeiten (85.2%) und Einkaufe vor Ort (80.2%). Nur 11 (13.6%) der Teilnehmer mit ASD gingen einer Beschaftigung nach [funf (6.2%) arbeiteten mehr als 20 Stunden pro Woche], und vier (4.9%) besuchten die Schule. Zu den Beschaftigungsarten zahlten das Servieren von Speisen und Getranken, Backen und Putzen. Die meisten (81.5%) der Teilnehmer mit ASD waren arbeitslos, verbrachten ihre Zeit zu Hause und wurden von Familienangehorigen betreut. Die Ergebnisse dieser Studie liefern Informationen, die den Aufbau von adaquaten Interventionen unterstutzen, die den Bedurfnissen von Erwachsenen mit ASD entsprechen, insbesondere derjenigen in Taiwan. Die Entwicklung adaquater Interventionen ist wichtig, um die funktionale Selbstandigkeit dieser Population zu erleichtern. Kunftige Studien mit grosseren Studienpopulationen und einer Vergleichsgruppe sind erforderlich.Los estudios sobre las actividades diarias y la situacion laboral de los adultos que sufren de trastornos del espectro autista (TEA) en Taiwan son limitados. Los objetivos de este estudio fueron investigar los resultados con respecto a la independencia funcional y la situacion laboral de las personas con TEA en Taiwan. En este estudio se investigaron las actividades diarias y la situacion laboral de 81 adultos (de entre los 18-48 anos de edad; edad media, 22.8 anos) con TEA del sur de Taiwan. La mayoria (85.2%) de los participantes con TEA fueron hombres, y todos ellos vivian con sus cuidadores o tutores. Los cuidadores o tutores primarios rellenaron un cuestionario escrito autoadministrado. Mas de tres cuartos (80.2%) de los participantes con TEA podian cuidar de si mismos de forma independiente. Las actividades domesticas diarias en las que participaban mas a menudo incluian paseos de mas de 15 minutos (88.9%), pequenas tareas domesticas (85.2%) y salir a hacer la compra (80.2%). Solo 11 (13.6%) de los participantes con TEA tenian un empleo [cinco (6.2%) trabajaban mas de 20 h/semana] y cuatro (4.9%) estaban estudiando. Los tipos de empleo incluian servir comida y bebidas, cocinar y limpiar. La mayoria (81.5%) de los participantes con TEA no poseian un trabajo, sino que permanecian en casa al cuidado de los miembros de la familia. Los resultados de este estudio indican la necesidad de realizar las intervenciones pertinentes de asistencia a los adultos con TEA, en particular a los residentes en Taiwan. El desarrollo de intervenciones adecuadas es importante a la hora de facilitar la independencia funcional de esta poblacion. Por otra parte, es preciso llevar a cabo futuras investigaciones que hagan uso de poblaciones mayores y de un grupo de comparacion.Les recherches sur les activites quotidiennes et le niveau d’emploi des adultes souffrant de troubles du spectre autistique a Taiwan sont limitees. Cette etude avait pour objet d’examiner les resultats lies a l’independance fonctionnelle et a l’emploi parmi les victimes de TSA a Taiwan. Nous avons examine les activites de vie quotidienne et le statut d’emploi de 81 adultes (ages de 18 a 48 ans; age moyen: 22.8 ans) souffrant de TSA dans le sud de Taiwan. La plupart (85.2%) des victimes de TSA etaient des hommes, et ils vivaient avec leurs soignants ou tuteurs. Les soignants or gardiens/tuteurs primaires ont rempli de maniere autonome un questionnaire ecrit. Plus des trois-quarts (80.2%) des participants souffrant de TSA etaient a meme de prendre soin d’eux-memes de maniere independante. Les activites instrumentales de la vie quotidienne auxquelles ils prenaient part le plus frequemment incluaient la marche a l’exterieur pendant plus de 15 min (88.9%), les travaux menagers legers (85.2%), et les courses dans des magasins locaux (80.2%). Seulement 11 (13.6%) des participants atteints de TSA travaillaient [cinq (6.2%) plus de 20 h/semaine] et quatre (4.9%) frequentaient l’ecole. Les types d’emplois incluaient les services de restauration, la boulangerie et le nettoyage.La plupart (81.5%) des participants souffrant de TSA etaient au chomage, restaient a la maison et etaient pris en charge par les membres de leur famille. Les resultats de cette etude apportent des informations qui seront utiles pour la conception d’interventions appropriees pour repondre aux besoins des adultes atteints de TSA, en particulier a Taiwan. Il est important de developper des interventions adequates pour faciliter l’independance fonctionnelle de cette population. Des recherches futures portant sur des populations plus etendues avec un groupe de comparaison seront necessaires.
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4. Radulescu E, Ganeshan B, Minati L, Beacher FD, Gray MA, Chatwin C, Young RC, Harrison NA, Critchley HD. {{Gray matter textural heterogeneity as a potential in-vivo biomarker of fine structural abnormalities in Asperger syndrome}}. {Pharmacogenomics J};2012 (Feb 14)
Brain imaging studies contribute to the neurobiological understanding of Autism Spectrum Conditions (ASC). Herein, we tested the prediction that distributed neurodevelopmental abnormalities in brain development impact on the homogeneity of brain tissue measured using texture analysis (TA; a morphological method for surface pattern characterization). TA was applied to structural magnetic resonance brain scans of 54 adult participants (24 with Asperger syndrome (AS) and 30 controls). Measures of mean gray-level intensity, entropy and uniformity were extracted from gray matter images at fine, medium and coarse textures. Comparisons between AS and controls identified higher entropy and lower uniformity across textures in the AS group. Data reduction of texture parameters revealed three orthogonal principal components. These were used as regressors-of-interest in a voxel-based morphometry analysis that explored the relationship between surface texture variations and regional gray matter volume. Across the AS but not control group, measures of entropy and uniformity were related to the volume of the caudate nuclei, whereas mean gray-level was related to the size of the cerebellar vermis. Similar to neuropathological studies, our study provides evidence for distributed abnormalities in the structural integrity of gray matter in adults with ASC, in particular within corticostriatal and corticocerebellar networks. Additionally, this in-vivo technique may be more sensitive to fine microstructural organization than other more traditional magnetic resonance approaches and serves as a future testable biomarker in AS and other neurodevelopmental disorders.The Pharmacogenomics Journal advance online publication, 14 February 2012; doi:10.1038/tpj.2012.3.
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5. Rodriguez-Otero F, Santana-Artiles A, Rial-Gonzalez R, Lifchitz-Shilman F. {{[Tectal glioma, autism and the use of jokes]}}. {Rev Neurol};2012 (Feb 16);54(4):252-253.
6. Wu W, Gu W, Xu X, Shang S, Zhao Z. {{Downregulation of CNPase in a MeCP2 deficient mouse model of Rett syndrome}}. {Neurol Res};2012 (Jan 13)
OBJECTIVES: To investigate the possible target genes of methyl-CpG-binding protein 2 (MeCP2) that contribute to Rett syndrome (RTT). METHODS: Brain tissues were taken from Mecp2(308/Y) mice or control mice and then subjected to real-time quantitative reverse transcriptase polymerase chain reaction (RT-PCR), immunohistochemical staining, and Western blot analysis for connexin (Cx)43, Cx45, Cx40, Cx32, 2,3-cyclic nucleotide 3-phosphohydrolase (CNPase), and glial fibrillary acidic protein (GFAP). RESULTS: The expression of CNPase in subcortical white matter and hippocampi was lower in RTT mice compared to control mice at both mRNA and protein levels. In contrast, the expression of Cx43, Cx40, Cx45, Cx32, or GFAP was not altered in RTT mice compared to control mice. CONCLUSION: The downregulation of CNPase expression in the brain may be a possible consequence of MECP2 gene mutation, and the indicated dysfunction of the oligodendrocytes in the subcortical white matter and hippocampi may be involved in RTT pathogenesis.
