1. Brisson J, Warreyn P, Serres J, Foussier S, Adrien JL. {{Motor Anticipation Failure in Infants With Autism: a Retrospective Analysis of Feeding Situations}}. {Autism}. 2012 Jan 16.
Previous studies on autism have shown a lack of motor anticipation in children and adults with autism. As part of a programme of research into early detection of autism, we focussed on an everyday situation: spoon-feeding. We hypothesize that an anticipation deficit may be found very early on by observing whether the baby opens his or her mouth in anticipation of the spoon’s approach. The study is based on a retrospective analysis from family home movies. Observation of infants later diagnosed with autism or an autism spectrum disorder (ASD) (n = 13) and infants with typical development (n = 14) between 4 and 6 months old show that the autism/ASD group has an early anticipation deficit.
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2. Liao W, Gandal MJ, Ehrlichman RS, Siegel SJ, Carlson GC. {{MeCP2+/- mouse model of RTT reproduces auditory phenotypes associated with Rett syndrome and replicate select EEG endophenotypes of autism spectrum disorder}}. {Neurobiology of disease}. 2012 Jan 9.
Impairments in cortical sensory processing have been demonstrated in Rett syndrome (RTT) and Autism Spectrum Disorders (ASD) and are thought to contribute to high-order phenotypic deficits. However, underlying pathophysiological mechanisms for these abnormalities are unknown. This study investigated auditory sensory processing in a mouse model of RTT with a heterozygous loss of MeCP2 function. Cortical abnormalities in a number of neuropsychiatric disorders, including ASD are reflected in auditory evoked potentials and fields measured by EEG and MEG. One of these abnormalities, increased latency of cortically sourced components, is associated with language and developmental delay in autism. Additionally, gamma-band abnormalities have recently been identified as an endophenotype of idiopathic autism. Both of these cortical abnormalities are potential clinical endpoints for assessing treatment. While ascribing similar mechanisms of idiopathic ASD to Rett syndrome (RTT) has been controversial, we sought to determine if mouse models of RTT replicate these intermediate phenotypes. Mice heterozygous for the null mutations of the gene MeCP2, were implanted for EEG. In response to auditory stimulation, these mice recapitulated specific latency differences as well as select gamma and beta band abnormalities associated with ASD. MeCP2 disruption is the predominant cause of RTT, and reductions in MeCP2 expression predominate in ASD. This work further suggests a common cortical pathophysiology for RTT and ASD, and indicates that the MeCP2+/- model may be useful for preclinical development targeting specific cortical processing abnormalities in RTT with potential relevance to ASD.
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3. Olivie H. {{Clinical practice : The medical care of children with autism}}. {European journal of pediatrics}. 2012 Jan 18.
The prevalence of autism spectrum disorder (ASD) has increased considerably in the past decades. The primary care paediatrician plays an important role not only in the early recognition of ASD but also in its chronic management. Paediatricians need to be comfortable with the global care of children with ASD. The diagnostic assessment of children with ASD comprises the medical investigations to identify associated or underlying medical conditions. The most important associated conditions are seizures, feeding and gastrointestinal problems, sleep disturbances and dental abnormalities. The care of ASD patients is very demanding since along with the purely medical issues there are challenging behavioural and psychiatric conditions that need consideration and professional skills.
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4. Patterson SY, Smith V, Mirenda P. {{A systematic review of training programs for parents of children with autism spectrum disorders: Single subject contributions}}. {Autism}. 2012 Jan 16.
Aim: The purpose of this systematic review was to examine research utilizing single subject research designs (SSRD) to explore the effectiveness of interventions designed to increase parents’ ability to support communication and social development in children with autism spectrum disorders (ASDs).Method: Included studies were systematically assessed for methodological quality (Logan et al., 2008; Smith et al., 2007) and intervention effects. Data examining participant characteristics, study methodology, outcomes, and analysis were systematically extracted.Results: Eleven SSRD parent-training intervention studies examining 44 participants with ASD were included. Overall, the studies were of moderate quality and reported increases in parent skills and child language and communication outcomes.Interpretation: The results supported by improvement rate difference (IRD) analysis indicated several interventions demonstrated positive effects for both parent and child outcomes. However, limited generalization and follow-up data suggested only one intervention demonstrated parents’ accurate and ongoing intervention implementation beyond training.
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5. Schengrund CL, Ali-Rahmani F, Ramer JC. {{Cholesterol, GM1, and Autism}}. {Neurochemical research}. 2012 Jan 18.
Disruption of cholesterol metabolism has been hypothesized to contribute to dementia, possibly due to its role in maintaining membrane fluidity as well as the integrity of lipid rafts. Previously, we reported an apparent inverse relationship between membrane cholesterol levels and those of GM1, another lipid that can be found in rafts. This paper describes the observation that red blood cell (RBC) membranes isolated from blood drawn from children diagnosed with autism have on the average significantly less cholesterol and significantly more GM1 than RBC membranes isolated from blood obtained from control children. While cholesterol in the circulation does not cross the blood brain barrier, a generalized defect in its synthesis could affect its concentration in the central nervous system and that, coupled with a change in ganglioside expression, could contribute to development of the behaviors associated with autism.
