1. Brandimonte MA, Filippello P, Coluccia E, Altgassen M, Kliegel M. {{To do or not to do? Prospective memory versus response inhibition in autism spectrum disorder and attention-deficit/hyperactivity disorder}}. {Memory}. 2011 Jan;19(1):56-66.
In the present research, event-based prospective memory and response inhibition (RI) abilities were investigated in children with ASD (Study 1), with ADHD (Study 2), and their matched neurotypical controls. Children engaged in a categorisation (ongoing) task and, concurrently, in either an event-based prospective memory (PM) or a Go/No-Go secondary task. Results showed that, as compared to their matched controls, ASD children’s performance was more impaired in the PM task than in the Go/No-Go task, while the performance pattern of ADHD children was reversed. In the ongoing task, ASD children were as accurate as, but significantly slower than, controls, independently of conditions. ADHD children did not differ from controls in the presence of a concurrent PM task, while they were less accurate than controls in the presence of the go/no-go task. Overall, the two patterns of findings suggest important differences in the way ASD and ADHD children remember and realise intentions requiring opposite behaviours (acting vs stopping).
2. Calfa G, Percy AK, Pozzo-Miller L. {{Experimental models of Rett syndrome based on Mecp2 dysfunction}}. {Exp Biol Med (Maywood)}. 2011 Jan 1;236(1):3-19.
Rett syndrome (RTT) is a neurodevelopmental disorder predominantly occurring in females with an incidence of 1:10,000 births and caused by sporadic mutations in the MECP2 gene, which encodes methyl-CpG-binding protein-2, an epigenetic transcription factor that binds methylated DNA. The clinical hallmarks include a period of apparently normal early development followed by a plateau and then subsequent frank regression. Impaired visual and aural contact often lead to an initial diagnosis of autism. The characterization of experimental models based on the loss-of-function of the mouse Mecp2 gene revealed that subtle changes in the morphology and function of brain cells and synapses have profound consequences on network activities that underlie critical brain functions. Furthermore, these experimental models have been used for successful reversals of RTT-like symptoms by genetic, pharmacological and environmental manipulations, raising hope for novel therapeutic strategies to improve the quality of life of RTT individuals.
3. de Marchena A, Eigsti IM, Worek A, Ono KE, Snedeker J. {{Mutual exclusivity in autism spectrum disorders: Testing the pragmatic hypothesis}}. {Cognition}. 2011 Jan 14.
While there is ample evidence that children treat words as mutually exclusive, the cognitive basis of this bias is widely debated. We focus on the distinction between pragmatic and lexical constraints accounts. High-functioning children with autism spectrum disorders (ASD) offer a unique perspective on this debate, as they acquire substantial vocabularies despite impoverished social-pragmatic skills. We tested children and adolescents with ASD in a paradigm examining mutual exclusivity for words and facts. Words were interpreted contrastively more often than facts. Word performance was associated with vocabulary size; fact performance was associated with social-communication skills. Thus mutual exclusivity does not appear to be driven by pragmatics, suggesting that it is either a lexical constraint or a reflection of domain-general learning processes.
4. Hamdan FF, Daoud H, Piton A, Gauthier J, Dobrzeniecka S, Krebs MO, et al. {{De Novo SYNGAP1 Mutations in Nonsyndromic Intellectual Disability and Autism}}. {Biol Psychiatry}. 2011 Jan 14.
BACKGROUND: Little is known about the genetics of nonsyndromic intellectual disability (NSID). Recently, we reported de novo truncating mutations in the SYNGAP1 gene of 3 of 94 NSID cases, suggesting that its disruption represents a common cause of autosomal dominant NSID. METHODS: To further explore the involvement of SYNGAP1 in NSID, we sequenced its exons and intronic boundaries in 60 additional sporadic cases of NSID, including 30 patients with autism spectrum disorders (ASD) and 9 with epilepsy, and in 380 control individuals. RESULTS: We identified de novo out-of-frame deletions in two patients with NSID and mild generalized epilepsy (c.2677delC/p.Q893RfsX184 and c.321_324delGAAG/p. K108VfsX25) and a de novo splicing mutation (c.2294 + 1G>A), which results in the creation of a premature stop codon, in a patient with NSID and autism. No splicing or truncating mutations were found in control subjects. CONCLUSIONS: We provide evidence that truncating mutations in SYNGAP1 are common in NSID and can be also associated with autism.
5. Kinsbourne M. {{The Immune System’s Moderating Response to Inflammation Relieves Autistic Behavior: Response to Peter Good}}. {Neuropsychol Rev}. 2011 Jan 18.
6. Weil TN, Bagramian RA, Inglehart MR. {{Treating patients with Autism Spectrum Disorder-SCDA members’ attitudes and behavior}}. {Spec Care Dentist}. 2011 Jan;31(1):8-17.
The goal of this study was to explore (a) the attitudes and behavior of members of the Special Care Dentistry Association (SCDA) who self-identified as treating patients with Autism Spectrum Disorders (ASD) and (b) the relationship between their professional attitudes and behaviors concerning these patients. Data were collected from 75 SCDA members who responded to an anonymous web-based survey on the SCDA website. The majority of respondents liked to treat children and adults with ASD (57%/56.9%). They treated approximately nine patients with ASD in an average week. The more they liked to treat children with ASD, the more patients with ASD they treated (r = .313; p = .018), and the more accommodations to overcome problems with communication, social interactions and aversion to change they made (r = .404; p < .001). Providers’ attitudes concerning patients with ASD were quite positive and correlated with professional behavior concerning these patients. Future research should explore whether improving attitudes towards providing care for special needs patients could increase professional behavior and thus contribute to reducing the access to care problems these patients face.
