1. Chilosi AM, Brovedani P, Ferrari AR, Ziegler AL, Guerrini R, Deonna T. {{Language Regression Associated With Autistic Regression and Electroencephalographic (EEG) Abnormalities: A Prospective Study}}. {J Child Neurol};2013 (Apr 4)
We report a boy, referred at 25 months following a dramatic isolated language regression antedating autistic-like symptomatology. His sleep electroencephalogram (EEG) showed persistent focal epileptiform activity over the left parietal and vertex areas never associated with clinical seizures. He was started on adrenocorticotropic hormone (ACTH) with a significant improvement in language, behavior, and in EEG discharges in rapid eye movement (REM) sleep. Later course was characterized by fluctuations/regressions in language and behavior abilities, in phase with recrudescence of EEG abnormalities prompting additional ACTH courses that led to remarkable decrease in EEG abnormalities, improvement in language, and to a lesser degree, in autistic behavior. The timely documentation of regression episodes suggesting an « atypical » autistic regression, striking therapy-induced improvement, fluctuation of symptomatology over time could be ascribed to recurrent and persisting EEG abnormalities.
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2. Fors SD, Fors MF. {{Is autism linked to migraine aura?}}. {Epidemiology};2013 (May);24(3):472-473.
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3. Ludlow AK, Heaton P, Hill E, Franklin A. {{Color obsessions and phobias in autism spectrum disorders: The case of J.G}}. {Neurocase};2013 (Apr 3)
The current study is the first investigation of color ‘obsessions’ and ‘phobias’ in ASD. We investigate the color perception and cognition of J.G., a boy with ASD who has a strong obsession with blue, and a strong phobia of other colors. J.G.’s performance on a series of color tasks (color-entity association; chromatic discrimination; color classification) is compared to 13 children with and without autism who do not have color obsessions or phobias. The findings lead to the formalization of two hypotheses: (i) color obsessions and phobias in individuals with ASD are related to an unusually strong ability to associate colors with entities; (ii) color obsessions are related to hyposensitivity, and color phobias to hypersensitivity, in the affected regions of color space.
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4. Masoud A, Roya K, Mohammad-Esmaeil M, Mahnaz T, Marziyeh D, Tahereh A, Gelayol A, Parinaz P. {{Inequality in School Readiness and Autism among 6-Year-Old Children across Iranian Provinces: National Health Assessment Survey Results}}. {Iran J Pediatr};2013 (Feb);23(1):71-78.
OBJECTIVE: To assess the national inequality of school readiness and autism among 6-year-old Iranian children before school entry using a national health assessment survey. METHODS: In a cross-sectional nationwide survey, all Iranian children entering public and private elementary schools were asked to participate in a mandatory national screening program in Iran in 2009 in two levels of screening and diagnostic levels. FINDINGS: The study population consisted of 955388 children (48.5% girls and 76.1% urban residents). Of the whole children, 3.1% of the 6-year-old children had impaired vision. In addition, 1.2, 1.8, 1.4, 7.6, 0.08, 10, 10.9, 56.7, 0.7, 0.8 and 0.6 percent had color blindness, hearing impaired, speech disorder, school readiness, autism, height to age retardation, body mass index extremes, decayed teeth, disease with special needs, spinal disorders, and hypertension, respectively. The distribution of these disorders was unequally distributed across provinces. CONCLUSION: Our results confirmed that there is an inequality in distribution of school readiness and autism in 6-year-old children across Iranian provinces. The observed burden of these distributions among young children needs a comprehensive national policy with evidence-based province programs to identify the reason for different inequality among provinces.
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5. Mizejewski GJ, Lindau-Shepard B, Pass KA. {{Newborn screening for autism: in search of candidate biomarkers}}. {Biomark Med};2013 (Apr);7(2):247-260.
Background: Autism spectrum disorder (ASD) represents a wide range of neurodevelopmental disorders characterized by impairments in social interaction, language, communication and range of interests. Autism is usually diagnosed in children 3-5 years of age using behavioral characteristics; thus, diagnosis shortly after birth would be beneficial for early initiation of treatment. Aim: This retrospective study sought to identify newborns at risk for ASD utilizing bloodspot specimens in an immunoassay. Materials & methods: The present study utilized stored frozen specimens from ASD children already diagnosed at 15-36 months of age. The newborn specimens and controls were analyzed by immunoassay in a multiplex system that included 90 serum biomarkers and subjected to statisical analysis. Results: Three sets of five biomarkers associated with ASD were found that differed from control groups. The 15 candidate biomarkers were then discussed regarding their association with ASD. Conclusion: This study determined that a statistically selected panel of 15 biomarkers successfully discriminated presumptive newborns at risk for ASD from those of nonaffected controls.
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6. Schutzius G, Bleckmann D, Kapps-Fouthier S, di Giorgio F, Gerhartz B, Weiss A. {{A quantitative homogeneous assay for fragile X mental retardation 1 protein}}. {J Neurodev Disord};2013 (Apr 2);5(1):8.
BACKGROUND: Hypermethylation of the fragile X mental retardation 1 gene FMR1 results in decreased expression of FMR1 protein FMRP, which is the underlying cause of Fragile X syndrome — an incurable neurological disorder characterized by mental retardation, anxiety, epileptic episodes and autism. Disease-modifying therapies for Fragile X syndrome are thus aimed at treatments that increase the FMRP expression levels in the brain. We describe the development and characterization of two assays for simple and quantitative detection of FMRP protein. METHOD: Antibodies coupled to fluorophores that can be employed for time-resolved Forster’s resonance energy transfer were used for the development of homogeneous, one-step immunodetection. Purified recombinant human FMRP and patient cells were used as control samples for assay development. RESULTS: The assays require small sample amounts, display high stability and reproducibility and can be used to quantify endogenous FMRP in human fibroblasts and peripheral blood mononuclear cells. Application of the assays to FXS patient cells showed that the methods can be used both for the characterization of clinical FXS patient samples as well as primary readouts in drug-discovery screens aimed at increasing endogenous FMRP levels in human cells. CONCLUSION: This study provides novel quantitative detection methods for FMRP in FXS patient cells. Importantly, due to the simplicity of the assay protocol, the method is suited to be used in screening applications to identify compounds or genetic interventions that result in increased FMRP levels in human cells.
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7. Woodruff BK. {{Healthcare Experiences of Autistic Adults}}. {J Gen Intern Med};2013 (Apr 3)
