1. Herbert MR. {{SHANK3, the synapse, and autism}}. {N Engl J Med};2011 (Jul 14);365(2):173-175.
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2. Holtmann M, Steiner S, Hohmann S, Poustka L, Banaschewski T, Bolte S. {{Neurofeedback in autism spectrum disorders}}. {Dev Med Child Neurol};2011 (Jul 14)
Aim To review current studies on the effectiveness of neurofeedback as a method of treatment of the core symptoms of autism spectrum disorders (ASD). Method Studies were selected based on searches in PubMed, Ovid MEDLINE, EMBASE, ERIC, and CINAHL using combinations of the following keywords: ‘Neurofeedback’ OR ‘EEG Biofeedback’ OR ‘Neurotherapy’ OR ‘Mu-Rhythm’ OR ‘SMR’ AND ‘Autism’ OR ‘Autism Spectrum Disorder’ OR ‘Pervasive Developmental Disorder’. Results The existing evidence does not support the use of neurofeedback in the treatment of ASD. Studies with outcomes in favour of neurofeedback might be showing an improvement in comorbid attention-deficit-hyperactivity disorder symptoms rather than a true improvement in core ASD symptoms. Interpretation Limitations of this review are those inherent in the studies available, including small sample size, short duration, variable diagnostic criteria, and insufficient control interventions, all causing a lack of generalizability.
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3. Obrenovich ME, Shamberger RJ, Lonsdale D. {{Altered Heavy Metals and Transketolase Found in Autistic Spectrum Disorder}}. {Biol Trace Elem Res};2011 (Jul 14)
Autism and autism spectrum disorder (ASD) are developmental brain disorders with complex, obscure, and multifactorial etiology. Our recent clinical survey of patient records from ASD children under the age of 6 years and their age-matched controls revealed evidence of abnormal markers of thiol metabolism, as well as a significant alteration in deposition of several heavy metal species, particularly arsenic, mercury, copper, and iron in hair samples between the groups. Altered thiol metabolism from heavy metal toxicity may be responsible for the biochemical alterations in transketolase, and are mechanisms for oxidative stress production, dysautonomia, and abnormal thiamine homeostasis. It is unknown why the particular metals accumulate, but we suspect that children with ASD may have particular trouble excreting thiol-toxic heavy metal species, many of which exist as divalent cations. Accumulation or altered mercury clearance, as well as concomitant oxidative stress, arising from redox-active metal and arsenic toxicity, offers an intriguing component or possible mechanism for oxidative stress-mediated neurodegeneration in ASD patients. Taken together, these factors may be more important to the etiology of this symptomatically diverse disease spectrum and may offer insights into new treatment approaches and avenues of exploration for this devastating and growing disease.
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4. Signorini C, De Felice C, Leoncini S, Giardini A, D’Esposito M, Filosa S, Della Ragione F, Rossi M, Pecorelli A, Valacchi G, Ciccoli L, Hayek J. {{F-neuroprostanes mediate neurological severity in Rett syndrome}}. {Clin Chim Acta};2011 (Jul 15);412(15-16):1399-1406.
BACKGROUND: Rett syndrome (RTT) is a pervasive development disorder, mainly caused by mutations in the methyl-CpG binding protein 2 (MeCP2) gene. No reliable biochemical markers of the disease are available. Here we assess F-neuroprostanes (F-NeuroPs), lipid peroxidation products of the docosahexaenoic acid, as a novel disease marker in RTT and correlate it with clinical presentation, MeCP2 mutation type, and disease progression. In addition, we investigate on the impact of omega-3 polyunsaturated fatty acids (omega-3 PUFAs) supplementation on F-NeuroPs levels. METHODS: A case-control study design was used. A cohort of RTT patients (n=144) exhibiting different clinical presentations, disease stages, and MeCP2 gene mutations were evaluated. F-NeuroPs were measured in free form using a GC/NICI-MS/MS technique. Plasma F-NeuroPs levels in patients were compared to healthy controls and related to RTT forms, disease progression, and response to omega-3 PUFAs supplementation. RESULTS: Plasma F-NeuroPs levels were i) higher in RTT than in controls; ii) increased with the severity of neurological symptoms; iii) significantly elevated during the typical disease progression; iv) higher in MeCP2-nonsense as compared to missense mutation carriers; v) higher in typical RTT as compared to RTT variants; and vi) decreased in response to 12 months omega-3 PUFAs oral supplementation. CONCLUSIONS: Quantification of plasma F-NeuroPs provides a novel RTT marker, related to neurological symptoms severity, mutation type and clinical presentation.
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5. Vardi O, Davidovitch M, Vinkler C, Michelson M, Lerman-Sagie T, Lev D. {{Autistic regression in a child with Silver-Russell Syndrome and maternal UPD 7}}. {Eur J Paediatr Neurol};2011 (Jul 11)
Silver-Russell syndrome (SRS) is a heterogeneous syndrome which is characterized by severe intrauterine and postnatal growth retardation and typical dysmorphic features. In 5-10% of SRS patients, a maternal uniparental disomy of chromosome 7 (UPD7) can be detected. We describe a 4.5-y old boy. Physical examination at the age of 4.5 y was remarkable for small stature, relatively big head, triangular face, broad forehead, pointed chin and clinodactyly. He had hypopigmented macules on his back with no evidence of asymmetry/hemihypertrophy. Clinical diagnosis of Silver-Russell syndrome was made. Maternal UPD of chromosome 7 was found, confirming the diagnosis. Along with the clinical findings that are described in this syndrome he had moderate developmental delay which is not commonly found in these patients and underwent an autistic regression around the age of 2 years. This association has only once been described before in this syndrome. A possible explanation is that the autism is not a part of SRS but is due to the UPD. Our case suggests an association of autistic regression with a locus on chromosome 7.
