1. Barrow WJ, Jaworski M, Accardo PJ. {{Persistent Toewalking in Autism}}. {J Child Neurol}. 2011 Jan 31.
The records of 954 ambulatory children presenting for initial evaluation to a university developmental pediatrician were reviewed for the prevalence of persistent toe walking and associated tight heel cords. The incidence of persistent toe walking (20.1%) and tight heel cords (12.0%) were found to be higher in 324 children with an autistic spectrum disorder but lower (10.0%/3.0%) in 30 children with Asperger syndrome. These results confirm the previously reported high incidence of toe walking in children with autism and with language disorders and also raise the possibility of a secondary orthopedic deformity that can complicate long-term management of these patients.
2. Benton TD. {{Aripiprazole to Treat Irritability Associated With Autism: A Placebo-Controlled, Fixed-Dose Trial}}. {Curr Psychiatry Rep}. 2011 Feb 1.
3. Khajuria R, Gupta N, Sapra S, Gulati S, Ghosh M, Kalra V, et al. {{A Novel MECP2 Change in an Indian Boy With Variant Rett Phenotype and Congenital Blindness: Implications for Genetic Counseling and Prenatal Diagnosis}}. {J Child Neurol}. 2011 Feb;26(2):209-13.
Mutations in MECP2 gene are the primary cause of Rett syndrome, a neurodevelopmental disorder that primarily affects girls, and affect 90% to 95% patients with classical Rett syndrome. MECP2 mutations, once thought to be lethal in males, now present a broad spectrum of clinical manifestations in males. This article reports a family with a 9-year-old boy with Rett-like phenotype and congenital blindness, who inherited a novel MECP2 variant (p.P430S) from his asymptomatic mother. The variant was also identified in the asymptomatic maternal grandfather and maternal aunts of the proband, ruling out the possibility that the p.P430S was involved in the phenotype. Findings of the study suggest that a careful evaluation of the pathogenic nature of MECP2 variants identified in males be conducted before proposing genetic counseling or prenatal diagnosis to the family and that the interference of other factors like modifier genes, environment, epigenetics, and mosaicism be taken into account.
4. Kohls G, Peltzer J, Schulte-Ruther M, Kamp-Becker I, Remschmidt H, Herpertz-Dahlmann B, et al. {{Atypical Brain Responses to Reward Cues in Autism as Revealed by Event-Related Potentials}}. {J Autism Dev Disord}. 2011 Feb 3.
Social motivation deficit theories suggest that children with autism do not properly anticipate and appreciate the pleasure of social stimuli. In this study, we investigated event-related brain potentials evoked by cues that triggered social versus monetary reward anticipation in children with autism. Children with autism showed attenuated P3 activity in response to cues associated with a timely reaction to obtain a reward, irrespective of reward type. We attribute this atypical P3 activity in response to reward cues as reflective of diminished motivated attention to reward signals, a possible contributor to reduced social motivation in autism. Thus, our findings suggest a general reward processing deficit rather than a specific social reward dysfunction in autism.
5. Liptak GS, Kennedy JA, Dosa NP. {{Social Participation in a Nationally Representative Sample of Older Youth and Young Adults With Autism}}. {J Dev Behav Pediatr}. 2011 Feb 1.
OBJECTIVE:: To describe social participation and identify factors that affect it in a nationally representative sample of adolescents and young adults with autism. METHODS:: Longitudinal cohort study using data from the National Longitudinal Transition Study-2. The World Health Organization International Classification of Functioning, Disability, and Health model was used with participation as the dependent category. RESULTS:: A nationally representative sample of 725 youth with autism representing a weighted sample of 21,010 individuals was followed up for 4 years. The mean age at first interview was 15.4 years and 19.2 years at follow-up. More than half the youth at follow-up had not gotten together with friends in the previous year and 64% had not talked on the phone with a friend. Being employed or in secondary education was associated with the following factors (odds ratios): problems conversing (0.67), being teased (0.17), mental retardation (0.06), being above the poverty level (4.17), not using prescription medicine (4.11), general health status (2.30), and parental involvement with school (1.69) (all p < .001). CONCLUSIONS:: Many adolescents and young adults with autism become increasingly isolated. Although each aspect of social participation had its own distinct pattern of factors related to it, the ability to communicate effectively, less severe autism, coming from an environment that was not impoverished and having parents who advocated were associated with more positive outcomes. These data provide insights into the factors that affect the participation of youth with autism during their transition years and should ultimately lead to interventions that could improve those transitions.
6. Ratto AB, Turner-Brown L, Rupp BM, Mesibov GB, Penn DL. {{Development of the Contextual Assessment of Social Skills (CASS): A Role Play Measure of Social Skill for Individuals with High-Functioning Autism}}. {J Autism Dev Disord}. 2010 Dec 14.
This study piloted a role play assessment of conversational skills for adolescents and young adults with high-functioning autism/Asperger syndrome (HFA/AS). Participants completed two semi-structured role plays, in which social context was manipulated by changing the confederate’s level of interest in the conversation. Participants’ social behavior was rated via a behavioral coding system, and performance was compared across contexts and groups. An interaction effect was found for several items, whereby control participants showed significant change across context, while participants with HFA/AS showed little or no change. Total change across contexts was significantly correlated with related social constructs and significantly predicted ASD. The findings are discussed in terms of the potential utility of the CASS in the evaluation of social skill.
7. Reiersen AM, Todorov AA. {{Association between DRD4 genotype and Autistic Symptoms in DSM-IV ADHD}}. {J Can Acad Child Adolesc Psychiatry}. 2011 Feb;20(1):15-21.
OBJECTIVE: To explore the association of the DRD4 exon 3 7-repeat allele with clinically significant levels of autistic symptoms among children and adolescents with DSM-IV Attention-Deficit/Hyperactivity Disorder (ADHD). METHODS: Subjects included in the main analysis were 954 Missouri-born twins from a study of the genetic epidemiology of ADHD with complete data on DSM-IV ADHD diagnosis, DRD4 genotype and the parent-rated Social Responsiveness Scale (SRS). Logistic regression was used to investigate the association of the DRD4 7-repeat allele with clinically elevated SRS score. RESULTS: Among individuals with DSM-IV ADHD (any subtype), the DRD4 7-repeat allele was associated with high SRS score. The distribution of raw SRS scores appeared bimodal among subjects with at least one copy of the DRD4 7-repeat allele, suggesting a possible interaction between this DRD4 genotype and other, unmeasured variables. CONCLUSIONS: The DRD4 7-repeat allele may increase the risk for clinically elevated autistic symptoms in children and adolescents with ADHD. Further studies are needed to confirm this finding and explore the role of specific gene-gene and gene-environment interactions in the development of autistic symptoms and other co-occurring psychopathology among individuals with ADHD.
8. Ricciardi S, Boggio EM, Grosso S, Lonetti G, Forlani G, Stefanelli G, et al. {{Reduced AKT/mTOR signaling and protein synthesis dysregulation in a Rett syndrome animal model}}. {Hum Mol Genet}. 2011 Feb 3.
Rett syndrome (RTT) is a neurodevelopmental disorder with no efficient treatment that is caused in the majority of cases by mutations in the gene methyl-CpG binding-protein 2 (MECP2). RTT becomes manifest after a period of apparently normal development and causes growth deceleration, severe psychomotor impairment and mental retardation. Effective animal models for RTT are available and show morphofunctional abnormalities of synaptic connectivity. However, the molecular consequences of MeCP2 disruption leading to neuronal and synaptic alterations are not known. Protein synthesis regulation via the mammalian target of the rapamycin (mTOR) pathway is crucial for synaptic organization, and its disruption is involved in a number of neurodevelopmental diseases. We investigated the phosphorylation of the ribosomal protein (rp) S6, whose activation is highly dependent from mTOR activity. Immunohistochemistry showed that rpS6 phosphorylation is severely affected in neurons across the cortical areas of Mecp2 mutants and that this alteration precedes the severe symptomatic phase of the disease. Moreover, we found a severe defect of the initiation of protein synthesis in the brain of presymptomatic Mecp2 mutant that was not restricted to a specific subset of transcripts. Finally, we provide evidence for a general dysfunction of the Akt/mTOR, but not extracellular-regulated kinase, signaling associated with the disease progression in mutant brains. Our results indicate that defects in the AKT/mTOR pathway are responsible for the altered translational control in Mecp2 mutant neurons and disclosed a novel putative biomarker of the pathological process. Importantly, this study provides a novel context of therapeutic interventions that can be designed to successfully restrain or ameliorate the development of RTT.
9. Rodier P, Miller RK, Brent RL. {{Does treatment of premature labor with terbutaline increase the risk of autism spectrum disorders?}}. {Am J Obstet Gynecol}. 2011 Feb;204(2):91-4.
10. Trottier N, Kamp L, Mirenda P. {{Effects of Peer-Mediated Instruction to Teach Use of Speech-Generating Devices to Students with Autism in Social Game Routines}}. {Augment Altern Commun}. 2011 Feb 2.
Supporting social interactions between students with autism spectrum disorders (ASDs) and their typically developing peers presents many challenges. The purpose of this study was to investigate the effects of a peer-mediated intervention designed to teach two students with ASD to use speech-generating devices (SGDs) to engage in interactions with peers in a social context at school. Six peer confederates (three from each student with ASD’s general education classroom) were taught to support SGD use during game activities. A multiple baseline design was used to examine the relationship between peer-mediated instruction and an increase in total communicative acts (CAs) by the two students with ASD. Results provide evidence that the confederates acquired the skills needed to support SGD use by students with ASD. The results also suggest that the intervention was effective at increasing total appropriate CAs by students with ASD. In addition, social validity ratings by all of the confederates were positive. Results are discussed regarding educational implications, limitations, and future research.
