1. Ching H, Pringsheim T. {{Aripiprazole for autism spectrum disorders (ASD)}}. {Cochrane Database Syst Rev};2012;5:CD009043.
BACKGROUND: Autism spectrum disorders (ASD) include Autistic Disorder, Asperger’s Disorder and Pervasive Developmental Disorder Not Otherwise Specified (PDD-NOS). Irritability related to ASD has been treated with antipsychotics. Aripiprazole, a third generation atypical antipsychotic, is a relatively new drug that has a unique mechanism of action different from other antipsychotics. OBJECTIVES: To determine the safety and efficacy of aripiprazole for individuals with ASD. SEARCH METHODS: We searched the following databases on 4th May 2011: Cochrane Central Register of Controlled Trials (CENTRAL) (2011, Issue 2), MEDLINE (1948 to April Week 3 2011), EMBASE (1980 to 2011 Week 17), PsycINFO (1887 to current), CINAHL (1937 to current), WorldCat, ZETOC, Autism Data, Conference Proceedings Index-S, Conference Proceedings Index -SSH, ClinicalTrials.gov, and WHO ICTRP. We searched for records published in 1990 or later, as this was the year aripiprazole became available. SELECTION CRITERIA: Randomized controlled trials of aripiprazole versus placebo for the treatment of individuals with a diagnosis of ASD. DATA COLLECTION AND ANALYSIS: Two review authors independently collected, evaluated, and analyzed data. We performed meta-analysis for primary and secondary outcomes, when possible. MAIN RESULTS: Two randomized controlled trials with similar methodology have evaluated the use of aripiprazole for a duration of eight weeks in 316 children with ASD. The included trials had a low risk of bias. Although we searched for studies across age groups, only studies in children and youths were found. Meta-analysis of study results revealed a mean improvement of 6.17 points on the Aberrant Behavior Checklist (ABC) irritability subscale, 7.93 points on the ABC hyperactivity subscale, and 2.66 points in the stereotypy subscale in children treated with aripiprazole relative to children treated with a placebo. In terms of adverse side effects, children treated with aripiprazole had a greater increase in weight with a mean increase of 1.13 kg relative to placebo, and had a higher risk ratio for sedation (RR 4.28) and tremor (RR 10.26). AUTHORS’ CONCLUSIONS: Evidence from two randomized controlled trials suggests that aripiprazole can be effective in treating some behavioral aspects of ASD in children. After treatment with aripiprazole, children showed less irritability, hyperactivity, and stereotypies (repetitive, purposeless actions). Notable side effects must be considered, however, such as weight gain, sedation, drooling, and tremor. Longer studies of aripiprazole in individuals with ASD would be useful to gain information on long-term safety and efficacy.
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2. Davis LK, Gamazon ER, Kistner-Griffin E, Badner JA, Liu C, Cook EH, Sutcliffe JS, Cox NJ. {{Loci nominally associated with autism from genome-wide analysis show enrichment of brain expression quantitative trait loci but not lymphoblastoid cell line expression quantitative trait loci}}. {Mol Autism};2012 (May 16);3(1):3.
ABSTRACT: BACKGROUND: Autism spectrum disorder is a severe early onset neurodevelopmental disorder with high heritability but significant heterogeneity. Traditional genome-wide approaches to test for an association of common variants with autism susceptibility risk have met with limited success. However, novel methods to identify moderate risk alleles in attainable sample sizes are now gaining momentum. METHODS: In this study, we utilized publically available genome-wide association study data from the Autism Genome Project and annotated the results (P <0.001) for expression quantitative trait loci present in the parietal lobe (GSE35977), cerebellum (GSE35974) and lymphoblastoid cell lines (GSE7761). We then performed a test of enrichment by comparing these results to simulated data conditioned on minor allele frequency to generate an empirical P-value indicating statistically significant enrichment of expression quantitative trait loci in top results from the autism genome-wide association study. RESULTS: Our findings show a global enrichment of brain expression quantitative trait loci, but not lymphoblastoid cell line expression quantitative trait loci, among top single nucleotide polymorphisms from an autism genome-wide association study. Additionally, the data implicates individual genes SLC25A12, PANX1 and PANX2 as well as pathways previously implicated in autism. CONCLUSIONS: These findings provide supportive rationale for the use of annotation-based approaches to genome-wide association studies.
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3. Griesi-Oliveira K, Moreira DD, Davis-Wright N, Sanders S, Mason C, Orabona GM, Vadasz E, Bertola DR, State MW, Passos-Bueno MR. {{A complex chromosomal rearrangement involving chromosomes 2, 5, and X in autism spectrum disorder}}. {Am J Med Genet B Neuropsychiatr Genet};2012 (May 16)
Here, we describe a female patient with autism spectrum disorder and dysmorphic features that harbors a complex genetic alteration, involving a de novo balanced translocation t(2;X)(q11;q24), a 5q11 segmental trisomy and a maternally inherited isodisomy on chromosome 5. All the possibly damaging genetic effects of such alterations are discussed. In light of recent findings on ASD genetic causes, the hypothesis that all these alterations might be acting in orchestration and contributing to the phenotype is also considered. (c) 2012 Wiley Periodicals, Inc.
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4. Hahn JE. {{Minimizing Health Risks Among Older Adults With Intellectual and/or Developmental Disabilities: Clinical Considerations to Promote Quality of Life}}. {J Gerontol Nurs};2012 (May 18):1-6.
The number of individuals aging with lifelong intellectual and/or developmental disabilities (I/DD) is increasing and is expected to double by 2030. People with I/DD have faced a number of health disparities, including health care professionals unprepared to meet their health needs. This article will review age- and health-related clinical considerations among individuals aging with I/DD. The aim is to provide nurses with suggested interventions that promote health, prevent secondary conditions, and foster person-centered care among individuals aging with I/DD to help them live healthy and meaningful lives in their later years.
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5. Jahromi LB, Meek SE, Ober-Reynolds S. {{Emotion regulation in the context of frustration in children with high functioning autism and their typical peers}}. {J Child Psychol Psychiatry};2012 (May 16)
Background: It is well accepted that emotion regulation difficulties are a serious concern for children with ASD, yet empirical studies of this construct are limited for this population. The present study describes group differences between high functioning children with autism and their typical peers in frustration and discrete coping strategies for emotion regulation. We also use sequential analyses to test differences in the efficacy of individual coping strategies at regulating children’s frustration. Methods: Subjects were 20 children with autism (M = 59 months) and 20 developmentally matched typically developing children (M = 50 months). Measures of children’s frustration (negative facial expressions and behaviors, negative vocalizations, resignation) and emotion regulation coping strategies were observationally coded from structured video recordings. Results: Children with autism displayed a higher intensity and duration of resignation, and the group difference became most pronounced when children worked alone during the parent-absent segment of the locked box task. Children with autism used significantly more avoidance and venting strategies, and fewer constructive strategies than typical children. Sequential analyses revealed that social support strategies (orienting and verbalizing to the experimenter) were ineffective for children with autism, while these behaviors, vocal venting, and distraction strategies were all effective for typically developing children. Conclusions: The results go beyond the recent literature by offering a rich description of children’s efforts to regulate their frustration when faced with challenge, and point to important contextual differences in the efficacy of children’s coping strategies.
