1. Delbroek H, Steyaert J, Legius E. {{An 8.9 year old girl with autism and Gorlin syndrome}}. {Eur J Paediatr Neurol}. 2010 Dec 27.
We present an 8.9 year old girl diagnosed with autism and macrocrania. Because of macrocrania, hypertelorism and epidermal punctiform lesions in the palm of the hand, Gorlin syndrome was clinically suspected and molecularly confirmed by finding a deletion of 22 base pairs in the PTCH1 gene. The possibility of an association between autism and Gorlin syndrome is discussed.
2. Samson F, Hyde KL, Bertone A, Soulieres I, Mendrek A, Ahad P, et al. {{Atypical processing of auditory temporal complexity in autistics}}. {Neuropsychologia}. 2010 Dec 27.
Autistics exhibit a contrasting combination of auditory behavior, with enhanced pitch processing abilities often coexisting with reduced orienting towards complex speech sounds. Based on an analogous dissociation observed in vision, we expected that autistics’ auditory behavior with respect to complex sound processing may result from atypical activity in non-primary auditory cortex. We employed fMRI to explore the neural basis of complex non-social sound processing in 15 autistic and 13 non-autistics, using a factorial design in which auditory stimuli varied in spectral and temporal complexity. Spectral complexity was modulated by varying the harmonic content, whereas temporal complexity was modulated by varying frequency modulation depth. The detection task was performed similarly by autistics and non-autistics. In both groups, increasing spectral or temporal complexity was associated with activity increases in primary (Heschl’s gyrus) and non-primary (anterolateral and posterior superior temporal gyrus) auditory cortex Activity was right-lateralized for spectral and left-lateralized for temporal complexity. Increasing temporal complexity was associated with greater activity in anterolateral superior temporal gyrus in non-autistics and greater effects in Heschl’s gyrus in autistics. While we observed similar hierarchical functional organization for auditory processing in both groups, autistics exhibited diminished activity in non-primary auditory cortex and increased activity in primary auditory cortex in response to the presentation of temporally, but not of spectrally complex sounds. Greater temporal complexity effects in regions sensitive to acoustic features and reduced temporal complexity effects in regions sensitive to more abstract sound features could represent a greater focus towards perceptual aspects of speech sounds in autism.
3. Theoharides TC, Angelidou A, Alysandratos KD, Zhang B, Asadi S, Francis K, et al. {{Mast cell activation and autism}}. {Biochim Biophys Acta}. 2010 Dec 27.
Autism Spectrum Disorders (ASD) are neurodevelopmental disorders characterized by varying degrees of dysfunctional communication and social interactions, repetitive and stereotypic behaviors, as well as learning and sensory deficits. Despite the impressive rise in the prevalence of autism during the last two decades, there are few, if any, clues for its pathogenesis, early detection or treatment. Increasing evidence indicates high brain expression of pro-inflammatory cytokines and the presence of circulating antibodies against brain proteins. A number of papers, mostly based on parents’ reporting on their children’s health problems, suggest that ASD children suffer from « allergic-like » problems in the absence of elevated serum IgE, and chronic urticaria. These findings suggest non-allergic mast cell activation, probably in response to environmental and stress triggers that could contribute to inflammation. In utero inflammation can lead to preterm labor and has itself been strongly associated with adverse neurodevelopmental outcomes. Premature babies have about 4 times higher risk of developing ASD and are also more vulnerable to infections, while delayed development of their gut-blood-brain barriers makes exposure to potential neurotoxins likely. Perinatal mast cell activation by infectious, stress-related, environmental or allergic triggers can lead to release of pro-inflammatory and neurotoxic molecules, thus contributing to brain inflammation and ASD pathogenesis, at least in a subgroup of ASD patients.
