1. {{Young adults with autism attracted to STEM majors in college}}. {Pediatr Ann};2013 (Jan);42(1):4.
2. Burbelo PD, Swedo SE, Thurm A, Bayat A, Levin AE, Marques A, Iadarola MJ. {{Lack of serum antibodies against Borrelia burgdorferi in children with autism}}. {Clin Vaccine Immunol};2013 (May 8)
It has been proposed that Borrelia burgdorferi infection is associated with approximately 25% of children with autism spectrum disorders. Here antibodies against Borrelia burgdorferi were assessed in autistic (n=104), developmentally delayed (n=24) and healthy control (n=55) children. No seropositivity against Borrelia burgdorferi was detected in the children with and without autism. There was no evidence of an association between Lyme disease and autism.
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3. Cohen D, Cassel RS, Saint-Georges C, Mahdhaoui A, Laznik MC, Apicella F, Muratori P, Maestro S, Muratori F, Chetouani M. {{Do parentese prosody and fathers’ involvement in interacting facilitate social interaction in infants who later develop autism?}}. {PLoS One};2013;8(5):e61402.
BACKGROUND: Whether development of autism impacts the interactive process between an infant and his/her parents remains an unexplored issue. METHODOLOGY AND PRINCIPAL FINDINGS: Using computational analysis taking into account synchronic behaviors and emotional prosody (parentese), we assessed the course of infants’ responses to parents’ type of speech in home movies from typically developing (TD) infants and infants who will subsequently develop autism aged less than 18 months. Our findings indicate: that parentese was significantly associated with infant responses to parental vocalizations involving orientation towards other people and with infant receptive behaviours; that parents of infants developing autism displayed more intense solicitations that were rich in parentese; that fathers of infants developing autism spoke to their infants more than fathers of TD infants; and that fathers’ vocalizations were significantly associated with intersubjective responses and active behaviours in infants who subsequently developed autism. CONCLUSION: The parents of infants who will later develop autism change their interactive pattern of behaviour by both increasing parentese and father’s involvement in interacting with infants; both are significantly associated with infant’s social responses. We stress the possible therapeutic implications of these findings and its implication for Dean Falk’s theory regarding pre-linguistic evolution in early hominins.
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4. Foss-Feig JH, Tadin D, Schauder KB, Cascio CJ. {{A substantial and unexpected enhancement of motion perception in autism}}. {J Neurosci};2013 (May 8);33(19):8243-8249.
Atypical perceptual processing in autism spectrum disorder (ASD) is well documented. In addition, growing evidence supports the hypothesis that an excitatory/inhibitory neurochemical imbalance might underlie ASD. Here we investigated putative behavioral consequences of the excitatory/inhibitory imbalance in the context of visual motion perception. As stimulus size increases, typical observers exhibit marked impairments in perceiving motion of high-contrast stimuli. This result, termed « spatial suppression, » is believed to reflect inhibitory motion-processing mechanisms. Motion processing is also affected by gain control, an inhibitory mechanism that underlies saturation of neural responses at high contrast. Motivated by these behavioral correlates of inhibitory function, we investigated motion perception in human children with ASD (n = 20) and typical development (n = 26). At high contrast, both groups exhibited similar impairments in motion perception with increasing stimulus size, revealing no apparent differences in spatial suppression. However, there was a substantial enhancement of motion perception in ASD: children with ASD exhibited a consistent twofold improvement in perceiving motion. Hypothesizing that this enhancement might indicate abnormal weakening of response gain control, we repeated our measurements at low contrast, where the effects of gain control should be negligible. At low contrast, we indeed found no group differences in motion discrimination thresholds. These low-contrast results, however, revealed weaker spatial suppression in ASD, suggesting the possibility that gain control abnormalities in ASD might have masked spatial suppression differences at high contrast. Overall, we report a pattern of motion perception abnormalities in ASD that includes substantial enhancements at high contrast and is consistent with an underlying excitatory/inhibitory imbalance.
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5. Grabrucker AM. {{A role for synaptic zinc in ProSAP/Shank PSD scaffold malformation in autism spectrum disorders}}. {Dev Neurobiol};2013 (May 4)
The establishment and maintenance of synaptic contacts as well as synaptic plasticity are crucial factors for normal brain function. The functional properties of a synapse are largely dependent on the molecular setup of synaptic proteins. Multidomain proteins of the ProSAP/Shank family act as major organizing scaffolding elements of the postsynaptic density (PSD). Interestingly, ProSAP/Shank proteins at glutamatergic synapses have been linked to a variety of Autism Spectrum Disorders (ASDs) including Phelan McDermid Syndrome, and deregulation of ProSAP/Shank has been reported in Alzheimer’s disease. Although the precise molecular mechanism of the dysfunction of these proteins remains unclear, an emerging model is that mutations or deletions impair neuronal circuitry by disrupting the formation, plasticity and maturation of glutamatergic synapses. Several PSD proteins associated with ASDs are part of a complex centered around ProSAP/Shank proteins and many ProSAP/Shank interaction partners play a role in signaling within dendritic spines. Interfering with any one of the members of this signaling complex might change the output and drive the system towards synaptic dysfunction. Based on recent data, it is possible that the concerted action of ProSAP/Shank and Zn2+ is essential for the structural integrity of the PSD. This interplay might regulate postsynaptic receptor composition, but also transsynaptic signaling. It might be possible that environmental factors like nutritional Zn2+ status or metal ion homeostasis in general intersect with this distinct pathway centered around ProSAP/Shank proteins and the deregulation of any of these two factors may lead to ASDs. (c) 2013 Wiley Periodicals, Inc. Develop Neurobiol, 2013.
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6. Jolley A, Corbett M, McGregor L, Waters W, Brown S, Nicholl J, Yu S. {{De Novo Intragenic Deletion of the Autism Susceptibility Candidate 2 (AUTS2) Gene in a Patient With Developmental Delay: A Case Report and Literature Review}}. {Am J Med Genet A};2013 (May 6)
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7. Lemonnier E, Robin G, Degrez C, Tyzio R, Grandgeorge M, Ben-Ari Y. {{Treating Fragile X syndrome with the diuretic bumetanide: a case report}}. {Acta Paediatr};2013 (Jun);102(6):e288-290.
We report that daily administration of the diuretic NKCC1 chloride co-transporter, bumetanide, reduces the severity of autism in a 10-year-old Fragile X boy using CARS, ADOS, ABC, RDEG and RRB before and after treatment. In keeping with extensive clinical use of this diuretic, the only side effect was a small hypokalaemia. A double-blind clinical trial is warranted to test the efficacy of bumetanide in FRX. Conclusion: This single case report showed an improvement of the scores of each test used after 3 months of treatment. Double-blind clinical trials are warranted to test the efficacy of bumetanide in FRX.
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8. Lindell AK, Hudry K. {{Atypicalities in Cortical Structure, Handedness, and Functional Lateralization for Language in Autism Spectrum Disorders}}. {Neuropsychol Rev};2013 (May 7)
Language is typically a highly lateralized function, with atypically reduced or reversed lateralization linked to language impairments. Given the diagnostic and prognostic role of impaired language for autism spectrum disorders (ASDs), this paper reviews the growing body of literature that examines patterns of lateralization in individuals with ASDs. Including research from structural and functional imaging paradigms, and behavioral evidence from investigations of handedness, the review confirms that atypical lateralization is common in people with ASDs. The evidence indicates reduced structural asymmetry in fronto-temporal language regions, attenuated functional activation in response to language and pre-linguistic stimuli, and more ambiguous (mixed) hand preferences, in individuals with ASDs. Critically, the evidence emphasizes an intimate relationship between atypical lateralization and language impairment, with more atypical asymmetries linked to more substantive language impairment. Such evidence highlights opportunities for the identification of structural and functional biomarkers of ASDs, affording the potential for earlier diagnosis and intervention implementation.
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9. Silva EB, Filipini R, Monteiro CB, Valenti VE, de Carvalho SM, Wajnsztejn R, de Farias MD, Macedo CC, de Abreu LC. {{The biopsychosocial processes in autism spectrum disorder}}. {Int Arch Med};2013 (May 8);6(1):22.
BACKGROUND: Autism is a disorder characterized by pervasive social and communicative impairments, repetitive and stereotyped behaviors and restricted interests. Its causes and effects have been researched from various neurocognitive theoretical perspectives and with the aid of neuroimaging technology. We aimed to describe biopsychosocial processes characteristic of the Autism Spectrum Disorders. METHOD: Literature review using Medline and Scopus databases published between 2001 and 2011, with the keywords « autism », « theory of mind », « executive functions », « central coherence » and « fMRI ». RESULTS: The studies found were plotted and organized into tables and an explanatory diagram of the main findings was produced. CONCLUSIONS: The most popular neurocognitive theories are still unable to fully explain the characteristics of the complications that autistic spectrum disorder causes to the quality of life of individuals living with autism. The association of clinical research and neuroimaging may contribute to a better understanding of the functioning of the brain affected by the disorder.
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10. Wang JY, Hagerman RJ, Rivera SM. {{A multimodal imaging analysis of subcortical gray matter in fragile X premutation carriers}}. {Mov Disord};2013 (May 6)
Approximately 40% of males with the fragile X premutation develop fragile X-associated tremor/ataxia syndrome after age 50. Although the thalamus and basal ganglia play a crucial role in movement disorders, their involvement in fragile X premutation carriers has not been systematically investigated. The current study characterized structural abnormalities associated with fragile X premutation carriers (with and without fragile X-associated tremor/ataxia syndrome) in the thalamus, caudate nucleus, putamen, and globus pallidus using T1-weighted and diffusion tensor imaging. Male premutation carriers with fragile X-associated tremor/ataxia syndrome showed significant volume atrophy and diffusion-weighted signal loss in all 4 structures compared with the control group. They also exhibited volume atrophy and diffusion-weighted signal loss in the thalamus and striatum compared with the premutation carriers without fragile X-associated tremor/ataxia syndrome. Importantly, many of the measurements exhibited robust correlations with symptom severity, with volume and diffusion-weighted imaging measurements displaying negative correlations and fractional anisotropy measurements displaying positive correlations. The current study demonstrated involvement of all 4 subcortical gray matter structures in fragile X-associated tremor/ataxia syndrome, with significant volume atrophy, and possible iron deposition indicated by the diffusion-weighted signal loss. The significant correlation between the subcortical measurements and symptom severity suggests the benefits of tracking structural changes in subcortical gray matter in future longitudinal studies for early detection and disease monitoring. (c) 2013 Movement Disorder Society.
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11. Zafeiriou DI, Ververi A, Dafoulis V, Kalyva E, Vargiami E. {{Autism Spectrum Disorders: The Quest for Genetic Syndromes}}. {Am J Med Genet B Neuropsychiatr Genet};2013 (May 3)
Autism spectrum disorders (ASD) are a heterogeneous group of neurodevelopmental disabilities with various etiologies, but with a heritability estimate of more than 90%. Although the strong correlation between autism and genetic factors has been long established, the exact genetic background of ASD remains unclear. A number of genetic syndromes manifest ASD at higher than expected frequencies compared to the general population. These syndromes account for more than 10% of all ASD cases and include tuberous sclerosis, fragile X, Down, neurofibromatosis, Angelman, Prader-Willi, Williams, Duchenne, etc. Clinicians are increasingly required to recognize genetic disorders in individuals with ASD, in terms of providing proper care and prognosis to the patient, as well as genetic counseling to the family. Vice versa, it is equally essential to identify ASD in patients with genetic syndromes, in order to ensure correct management and appropriate educational placement. During investigation of genetic syndromes, a number of issues emerge: impact of intellectual disability in ASD diagnoses, identification of autistic subphenotypes and differences from idiopathic autism, validity of assessment tools designed for idiopathic autism, possible mechanisms for the association with ASD, etc. Findings from the study of genetic syndromes are incorporated into the ongoing research on autism etiology and pathogenesis; different syndromes converge upon common biological backgrounds (such as disrupted molecular pathways and brain circuitries), which probably account for their comorbidity with autism. This review paper critically examines the prevalence and characteristics of the main genetic syndromes, as well as the possible mechanisms for their association with ASD. (c) 2013 Wiley Periodicals, Inc.
