1. Aldbass AM, Bhat RS, El-Ansary A. {{Protective and therapeutic potency of N-acetyl-cysteine on propionic acid-induced biochemical autistic features in rats}}. {Journal of neuroinflammation}. 2013 Mar 27;10(1):42.
BACKGROUND: The investigation of the environmental contribution for developmental neurotoxicity is very critical. Many environmental chemical exposures are now thought to contribute to the development of neurological disorders, especially in children. Results from animal studies may guide investigations of human populations towards identifying either environmental toxicants that cause or drugs that protect from neurotoxicity and may help in treatment of neurodevelopmental disorders. OBJECTIVE: To study both the protective and therapeutic effects of N-acetyl cysteine on brain intoxication induced by propionic acid (PPA) in rats. METHODS: Twenty-eight young male Western Albino rats were enrolled in the present study. They were grouped into four equal groups, each of 7 animals. Group 1: control group, orally received only phosphate buffered saline; Group 2: PPA-treated group, received a neurotoxic dose of of PPA of 250 mg/kg body weight/day for 3 days; Group 3: protective group, received a dose of 50 mg/kg body weight/day N-acetyl-cysteine for one week followed by a similar dose of PPA for 3 days; and Group 4: therapeutic group, treated with the same dose of N-acetyl cysteine after being treated with the toxic dose of PPA. Serotonin, interferon gamma (IFN-gamma), and glutathione-s-transferase activity, together with Comet DNA were assayed in the brain tissue of rats in all different groups. RESULTS: The obtained data showed that PPA caused multiple signs of brain toxicity as measured by depletion of serotonin (5HT), increase in IFN-gamma and inhibition of glutathione-s-transferase activity as three biomarkers of brain dysfunction. Additionally Comet DNA assay showed remarkably higher tail length, tail DNA % damage and tail moment. N-acetyl-cysteine was effective in counteracting the neurotoxic effects of PPA. CONCLUSIONS: The low dose and the short duration of N-acetyl-cysteine treatment tested in the present study showed much more protective rather than therapeutic effects on PPA-induced neurotoxicity in rats, as there was a remarkable amelioration in the impaired biochemical parameters representing neurochemical, inflammatory, detoxification and DNA damage processes.
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2. Charman T, Gotham K. {{Measurement Issues: Screening and diagnostic instruments for autism spectrum disorders – lessons from research and practice}}. {Child and adolescent mental health}. 2013 Feb 1;18(1):52-63.
Significant progress has been made over the past two decades in the development of screening and diagnostic instruments for autism spectrum disorders (ASD). This article reviews this progress, including recent innovations, focussing on those instruments for which the strongest research data on validity exists, and then turns to addressing issues arising from their use in clinical settings. Research studies have evaluated the ability of screens to prospectively identify cases of ASD in population-based and clinically-referred samples, as well as the accuracy of diagnostic instruments to map onto ‘gold standard’ clinical best estimate diagnosis. However, extension of the findings to clinical services must be done with caution, with a full understanding that instrument properties are sample-specific. Furthermore, we are limited by the lack of a true test for ASD, which remains a behaviourally-defined disorder. In addition screening and diagnostic instruments help clinicians least in the cases where they are most in want of direction, since their accuracy will always be lower for marginal cases. Instruments help clinicians to collect detailed, structured information and increase accuracy and reliability of referral for in-depth assessment and recommendations for support, but further research is needed to refine their effective use in clinical settings.
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3. de Lacy N, King BH. {{Revisiting the relationship between autism and schizophrenia: toward an integrated neurobiology}}. {Annual review of clinical psychology}. 2013 Mar 28;9:555-87.
Schizophrenia and autism have been linked since their earliest descriptions. Both are disorders of cerebral specialization originating in the embryonic period. Genetic, molecular, and cytologic research highlights a variety of shared contributory mechanisms that may lead to patterns of abnormal connectivity arising from altered development and topology. Overt behavioral pathology likely emerges during or after neurosensitive periods in which resource demands overwhelm system resources and the individual’s ability to compensate using interregional activation fails. We are at the threshold of being able to chart autism and schizophrenia from the inside out. In so doing, the door is opened to the consideration of new therapeutics that are developed based upon molecular, synaptic, and systems targets common to both disorders.
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4. Murdoch JD, State MW. {{Recent developments in the genetics of autism spectrum disorders}}. {Current opinion in genetics & development}. 2013 Mar 25.
The last several years have marked a turning point in the genetics of autism spectrum disorder (ASD) due to rapidly advancing genomic technologies. As the pool of bona fide risk genes and regions accumulates, several key themes have emerged: these include the important role of rare and de novo mutation, the biological overlap among so-called syndromic and ‘idiopathic’ ASD, the elusive nature of the common variant contribution to risk, and the observation that the tremendous locus heterogeneity underlying ASD appears to converge on a relatively small number of key biological processes. Perhaps most striking has been the revelation that ASD mutations show tremendous phenotypic variability ranging from social disability to schizophrenia, intellectual disability, language impairment, epilepsy and typical development.
