1. Carlson GC. {{Glutamate receptor dysfunction and drug targets across models of autism spectrum disorders}}. {Pharmacol Biochem Behav};2011 (Feb 8)
There is strong evidence that metabotropic and ionotropic glutamate receptors are affected in autism spectrum disorders (ASD), but there are few candidate genes indicating involvement of these receptors. This suggests that glutamate receptor dysregulation may primarily be involved in the expression of ASD, but is an uncommon etiology. Directly implicated in models of fragile-X with ASD phenotypes is metabotropic glutamate receptor type 5 (mGluR5), which appears to be an effective pharmacologic target in a number of models of ASD. The review of other ASD models demonstrates that there is also evidence of a role for kainate, NMDA, and AMPA receptors in the neurophysiology of ASD, though the relationship between dysfunction in those receptors and ASD-associated phenotypes is not well understood. Current models indicate a way forward to delineate the role of glutamate receptors in ASD. Further development of preclinical models focusing on glutamate receptors may provide tools to target a clinically important subset of ASD symptoms.
2. Dardennes RM, Al Anbar NN, Prado-Netto A, Kaye K, Contejean Y. {{Treating the cause of illness rather than the symptoms: Parental causal beliefs and treatment choices in autism spectrum disorder}}. {Res Dev Disabil};2011 (Feb 10)
OBJECTIVES: To explore the relationship between causal beliefs on autism (CBA) and treatment choices. DESIGN AND METHODS: A cross-sectional design was employed. Parents of a child with autism spectrum disorder (ASD) were asked to complete the Lay-Beliefs about Autism Questionnaire (LBA-Q) and answer questions about treatments used. Only items inquiring about a cause of autism were retained for analysis. Series of forward stepwise logistic regressions were performed with each treatment as dependent variable and the scores given to each of the CBA items as independent variables. RESULTS: 78 parents were included. The most strongly held causal beliefs were brain abnormalities and genetic factors. Parents who had more beliefs in the causal role of very early traumatic experiences were less likely to use behavior therapy and PECS. Higher beliefs in illness during pregnancy increased the odds of medication use. Stronger beliefs on the role of food allergy were associated with higher use of detoxification treatments, special diets, and vitamins. On the contrary, these beliefs reduced the odds of drug use. CONCLUSIONS: Causal beliefs are associated with treatment choices. Such preliminary results highlight the value of continued studies, not only to establish the causal nature of these associations, but also to demonstrate the utility of modifying such beliefs for both parents’ and child’s benefits. Identifying parents’ beliefs about their child’s illness may be an important step in formulating interventions facilitating appropriate care.
3. Gastgeb HZ, Wilkinson DA, Minshew NJ, Strauss MS. {{Can Individuals with Autism Abstract Prototypes of Natural Faces?}}. {J Autism Dev Disord};2011 (Feb 12)
There is a growing amount of evidence suggesting that individuals with autism have difficulty with face processing. One basic cognitive ability that may underlie face processing difficulties is the ability to abstract a prototype. The current study examined prototype formation with natural faces using eye-tracking in high-functioning adults with autism and matched controls. Individuals with autism were found to have significant difficulty forming prototypes of natural faces. The eye-tracking data did not reveal any between group differences in the general pattern of attention to the faces, indicating that these difficulties were not due to attentional factors. Results are consistent with previous studies that have found a deficit in prototype formation and extend these deficits to natural faces.
4. Lioy DT, Wu WW, Bissonnette JM. {{Autonomic dysfunction with mutations in the gene that encodes methyl-CpG-binding protein 2: Insights into Rett syndrome}}. {Auton Neurosci};2011 (Feb 10)
Rett syndrome (RTT) is an autism spectrum disorder with an incidence of ~1:10,000 females (reviewed in Bird, 2008; Chahrour et al., 2007; Francke, 2006). Affected individuals are apparently normal at birth. Between 6-18months of age, however, RTT patients begin to exhibit deceleration of head growth, replacement of purposeful hand movements with stereotypic hand wringing, loss of speech, social withdrawal and other autistic features. RTT is caused by loss of function mutations in the gene that encodes methyl-CpG-binding protein 2 (Mecp2) (Amir et al., 1999), a transcriptional repressor that targets genes essential for neuronal survival, dendritic growth, synaptogenesis, and activity dependent plasticity. MECP2 is X-linked, and males die soon after birth. Included in the RTT phenotype are cardiorespiratory disorders involving the autonomic nervous system. The respiratory disorders, including the roles of bioaminergic and brain derived neurotrophic factor (BDNF) signaling in the respiratory pathophysiology of RTT have been recently reviewed (Bissonnette et al., 2007a; Ogier et al., 2008; Katz et al., 2009). Here we will cover the work on RTT regarding respiration that has appeared since 2009 as well as cardiovascular abnormalities.
5. Malhi P, Singhi P. {{Follow up of Children with Autism Spectrum Disorders: Stability and Change in Diagnosis}}. {Indian J Pediatr};2011 (Feb 12)
OBJECTIVE: To assess diagnostic stability of initial autism spectrum disorder (ASD) diagnosed in children three years or less. METHODS: Participants in the study included 77 (64 boys,13 girls) children in whom a diagnosis of Autistic Disorder (AD) and Pervasive Developmental Disorder-Not Otherwise Specified (PDD-NOS) was made at age 3 years or less as per the DSM IV criteria. Children were recruited from the Outpatient services of the department of Pediatrics, Post Graduate Institute of Medical Education and Research, Chandigarh. Multi-disciplinary evaluations including neurological, diagnostic, cognitive, and behavioral assessments were made. In addition, the Childhood Autism Rating Scale (CARS) was administered to assess symptom severity. Follow up was done around 4 years of age. RESULTS: At Time 1, 64 (83.11%) children were diagnosed as AD and 13 (16.88%) children with PDD-NOS. Follow up was possible in only 43 children (55.8%) at the mean age of 4 years 1 month (SD = 0.99) after a mean age interval of 1.65 years (SD = 0.95). At Time 2, 37 (86%) children were diagnosed as AD and 4 (9.3%) children were diagnosed with PDD-NOS, and 2 (4.65%) children were found to be off the ASD spectrum. The diagnosis of ASD (AD and PDD-NOS) was stable over time and 41 (95.3%) out of 43 children retained an ASD diagnosis. Looking at specific ASD diagnosis, AD diagnosis was stable for 33 out of 37 (89.18%) children and the PDD-NOS was stable for only 1 out of 6 (16.67%) children. CONCLUSIONS: An early and a stable diagnosis of ASD is possible provided there are expert clinicians available. Early detection and diagnosis of ASDs allows opportunities for children to profit more from early supports and interventions.
6. Moran JM, Young LL, Saxe R, Lee SM, O’Young D, Mavros PL, Gabrieli JD. {{Impaired theory of mind for moral judgment in high-functioning autism}}. {Proc Natl Acad Sci U S A};2011 (Jan 31)
High-functioning autism (ASD) is characterized by real-life difficulties in social interaction; however, these individuals often succeed on laboratory tests that require an understanding of another person’s beliefs and intentions. This paradox suggests a theory of mind (ToM) deficit in adults with ASD that has yet to be demonstrated in an experimental task eliciting ToM judgments. We tested whether ASD adults would show atypical moral judgments when they need to consider both the intentions (based on ToM) and outcomes of a person’s actions. In experiment 1, ASD and neurotypical (NT) participants performed a ToM task designed to test false belief understanding. In experiment 2, the same ASD participants and a new group of NT participants judged the moral permissibility of actions, in a 2 (intention: neutral/negative) x 2 (outcome: neutral/negative) design. Though there was no difference between groups on the false belief task, there was a selective difference in the moral judgment task for judgments of accidental harms, but not neutral acts, attempted harms, or intentional harms. Unlike the NT group, which judged accidental harms less morally wrong than attempted harms, the ASD group did not reliably judge accidental and attempted harms as morally different. In judging accidental harms, ASD participants appeared to show an underreliance on information about a person’s innocent intention and, as a direct result, an overreliance on the action’s negative outcome. These findings reveal impairments in integrating mental state information (e.g., beliefs, intentions) for moral judgment.
7. Murshid EZ. {{Characteristics and Dental Experiences of Autistic Children in Saudi Arabia: Cross-sectional Study}}. {J Autism Dev Disord};2011 (Feb 12)
The purpose of this study is to report base line information about characteristics, and dental experiences of a group of autistic children in three major cities of Saudi Arabia. Most of the children (76.2%) included in the study were diagnosed with autism before the age of 5 years. More than half of the children (53.7%) had no previous dental experience while 33% were treated under general anesthesia. The American Academy of Pediatrics’ recommendations should be applied in Saudi Arabia to help improve the average age of diagnosis and make a positive effect on children with autism and their families. Regular visits to dental clinics should be recommended to all families with autistic children to reduce dental disease.
8. Nevill RE, White SW. {{College Students’ Openness Toward Autism Spectrum Disorders: Improving Peer Acceptance}}. {J Autism Dev Disord};2011 (Feb 12)
One probable consequence of rising rates of autism spectrum disorder diagnosis in individuals without co-occurring intellectual disability is that more young adults with diagnoses or traits of ASD will attend college and require appropriate supports. This study sought to explore college students’ openness to peers who demonstrate ASD-characteristic behaviors. Results showed a significant difference in openness between students who had a first-degree relative with an ASD (n = 18) and a gender-matched comparison group of students without such experience (F = 4.85, p = .035). Engineering and physical science majors did not demonstrate more overall openness. Universities should make efforts to prevent social isolation of students with ASD, such as programs to educate students about ASD and supports to ease college transition.
9. Rademacher N, Hambrock M, Fischer U, Moser B, Ceulemans B, Lieb W, Boor R, Stefanova I, Gillessen-Kaesbach G, Runge C, Korenke GC, Spranger S, Laccone F, Tzschach A, Kalscheuer VM. {{Identification of a novel CDKL5 exon and pathogenic mutations in patients with severe mental retardation, early-onset seizures and Rett-like features}}. {Neurogenetics};2011 (Feb 12)
10. Rutter ML. {{Progress in Understanding Autism: 2007-2010}}. {J Autism Dev Disord};2011 (Feb 12)
Scientific progress is discussed in relation to clinical issues; genetic issues; environmental issues; and the state of play on psychological treatments. It is concluded that substantial gains in knowledge have been achieved during the last 3 years, and there have been some unexpected findings, but major puzzles remain. We should be hopeful of ever greater gains in the years ahead, but both prevention and cure remain elusive.
