1. Bala KA, Dogan M, Mutluer T, Kaba S, Aslan O, Balahoroglu R, Cokluk E, Ustyol L, Kocaman S. {{Plasma amino acid profile in autism spectrum disorder (ASD)}}. {Eur Rev Med Pharmacol Sci}. 2016; 20(5): 923-9.
OBJECTIVE: In our study, we aimed to reveal pathophysiologic mechanisms in ASD by comparing plasma amino acid levels between patients and healthy controls while considering vitamin B12 and D levels. PATIENTS AND METHODS: The study included 21 patients aged 2-18 years-old who were followed with a diagnosis autism spectrum disorder (ASD) and 21 age and sex-matched healthy children from our outpatient clinic as control group. RESULTS: The study included 42 children and adolescents aged 2-18 years-old (19 girls and 23 boys). There were no significant differences in terms of body weight and height between the groups. We found significant differences in levels of ammonium, phosphoethanolamine, histidine, homocysteine, carnosine, methionine, cystathionine, cystine, threonine, 3-methyl histidine and phenylalanine/tyrosine ratio between patient and control groups. Both vitamin B12 and D were significantly lower in the ASD group compared to controls. In the variance analysis with vitamin B12 and D as covariates, significant differences persisted for only phosphoethanolamine (p=0.04), cystathionine (p<0.001), cystine (p=0.006) and threonine (p=0.02). CONCLUSIONS: Further studies are needed on the amino acids that show variations in children with ASD in order to reveal their role in the etiology and therapeutic use in ASD. Lien vers Pubmed
2. Bergbaum A, Mackie-Ogilvie C. {{Autism and chromosome abnormalities – A Review}}. {Clin Anat}. 2016.
The neuro-behavioral disorder of autism was first described in the 1940s and was predicted to have a biological basis. Since that time, with the growth of genetic investigations particularly in the area of pediatric development, an increasing number of children with autism and related disorders (autistic spectrum disorders, ASD) have been the subject of genetic studies both in the clinical setting and in the wider research environment. However, a full understanding of the biological basis of ASDs has yet to be achieved. Early observations of children with chromosomal abnormalities detected by G-banded chromosome analysis (karyotyping) and in situ hybridization revealed, in some cases, ASD associated with other features arising from such an abnormality. The introduction of higher resolution techniques for whole genome screening, such as array comparative genome hybridization (aCGH), allowed smaller imbalances to be detected, some of which are now considered to represent autism susceptibility loci. In this review, we describe some of the work underpinning the conclusion that ASDs have a genetic basis; a brief history of the developments in genetic analysis tools over the last fifty years; and the most common chromosomal abnormalities found in association with ASDs. Introduction of next generation sequencing (NGS) into the clinical diagnostic setting is likely to provide further insights into this complex field but it will not be covered in this review. This article is protected by copyright. All rights reserved.
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3. Bruno JL, Hosseini SM, Saggar M, Quintin EM, Raman MM, Reiss AL. {{Altered Brain Network Segregation in Fragile X Syndrome Revealed by Structural Connectomics}}. {Cereb Cortex}. 2016.
Fragile X syndrome (FXS), the most common inherited cause of intellectual disability and autism spectrum disorder, is associated with significant behavioral, social, and neurocognitive deficits. Understanding structural brain network topology in FXS provides an important link between neurobiological and behavioral/cognitive symptoms of this disorder. We investigated the connectome via whole-brain structural networks created from group-level morphological correlations. Participants included 100 individuals: 50 with FXS and 50 with typical development, age 11-23 years. Results indicated alterations in topological properties of structural brain networks in individuals with FXS. Significantly reduced small-world index indicates a shift in the balance between network segregation and integration and significantly reduced clustering coefficient suggests that reduced local segregation shifted this balance. Caudate and amygdala were less interactive in the FXS network further highlighting the importance of subcortical region alterations in the neurobiological signature of FXS. Modularity analysis indicates that FXS and typically developing groups’ networks decompose into different sets of interconnected sub networks, potentially indicative of aberrant local interconnectivity in individuals with FXS. These findings advance our understanding of the effects of fragile X mental retardation protein on large-scale brain networks and could be used to develop a connectome-level biological signature for FXS.
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4. Fujioka T, Inohara K, Okamoto Y, Masuya Y, Ishitobi M, Saito DN, Jung M, Arai S, Matsumura Y, Fujisawa TX, Narita K, Suzuki K, Tsuchiya KJ, Mori N, Katayama T, Sato M, Munesue T, Okazawa H, Tomoda A, Wada Y, Kosaka H. {{Gazefinder as a clinical supplementary tool for discriminating between autism spectrum disorder and typical development in male adolescents and adults}}. {Mol Autism}. 2016; 7: 19.
BACKGROUND: Gaze abnormality is a diagnostic criterion for autism spectrum disorder (ASD). However, few easy-to-use clinical tools exist to evaluate the unique eye-gaze patterns of ASD. Recently, we developed Gazefinder, an all-in-one eye-tracking system for early detection of ASD in toddlers. Because abnormal gaze patterns have been documented in various ASD age groups, we predicted that Gazefinder might also detect gaze abnormality in adolescents and adults. In this study, we tested whether Gazefinder could identify unique gaze patterns in adolescents and adults with ASD. METHODS: We measured the percentage of eye fixation time allocated to particular objects depicted in movies (i.e., eyes and mouth in human face movies, upright and inverted biological motion in movies that presented these stimuli simultaneously, and people and geometry in movies that presented these stimuli simultaneously) by male adolescents and adults with ASD (N = 26) and age-matched males with typical development (TD; N = 35). We compared these percentages between the two groups (ASD and TD) and with scores on the social responsiveness scale (SRS). Further, we conducted discriminant analyses to determine if fixation times allocated to particular objects could be used to discriminate between individuals with and without ASD. RESULTS: Compared with the TD group, the ASD group showed significantly less fixation time at locations of salient social information (i.e., eyes in the movie of human faces without lip movement and people in the movie of people and geometry), while there were no significant groupwise differences in the responses to movies of human faces with lip movement or biological motion. In a within-group correlation analysis, a few of the fixation-time items correlated with SRS, although most of them did not. No items significantly correlated with SRS in both ASD and TD groups. The percentage fixation times to eyes and people, which exhibited large effect sizes for the group difference, could differentiate ASD and TD with a sensitivity of 81.0 % and a specificity of 80.0 %. CONCLUSIONS: These findings suggest that Gazefinder is potentially a valuable and easy-to-use tool for objectively measuring unique gaze patterns and discriminating between ASD and TD in male adolescents and adults.
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5. Gimbler Berglund I, Huus K, Enskar K, Faresjo M, Bjorkman B. {{Perioperative and Anesthesia Guidelines for Children with Autism: A Nationwide Survey from Sweden}}. {J Dev Behav Pediatr}. 2016.
OBJECTIVE: The overall aim of this study was to describe the current set of guidelines for the preparation and care for children with autism spectrum disorder (ASD) in the perioperative setting across Sweden and explore the content of these guidelines in detail. METHOD: An online questionnaire was distributed to the chairpersons of all anesthesia departments (n = 68) and pediatric departments (n = 38) throughout Sweden. Follow-up phone calls were made to those departments that did not return the questionnaire. The presence of guidelines was analyzed through descriptive statistics. These guidelines and comments on routines used in these departments were analyzed inspired by conventional content analysis. RESULTS: Seven of the 68 anesthesia departments and none of the 38 pediatric departments across Sweden have guidelines for preparing and/or administering care to children with ASD within the perioperative setting. From the guidelines and routines used, 3 categories emerge: « lacking the necessary conditions, » « no extra considerations needed, » and « care with specific consideration for children with ASD. » These 3 categories span a continuum in the care. In the first category, the anesthesia induction could result in the child with ASD being physically restrained. In the last category, the entire encounter with the health care service would be adapted to the specific needs of the child. CONCLUSION: There is a lack of evidence-based guidelines specifically designed to meet the needs of children with ASD in the preoperative period in Sweden. Further research is needed to understand if children with ASD would benefit from evidence-based guidelines.
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6. Leigh JP, Grosse SD, Cassady D, Melnikow J, Hertz-Picciotto I. {{Spending by California’s Department of Developmental Services for Persons with Autism across Demographic and Expenditure Categories}}. {PLoS One}. 2016; 11(3): e0151970.
BACKGROUND: Few autism spectrum disorder (ASD) studies have estimated non-medical costs for treatment or addressed possible differences in provision of services across gender, race-ethnic, age or demographic or expenditure categories, especially among adults. METHODS: The California Department of Developmental Services (CDDS) provides services to residents with developmental disabilities. CDDS provided aggregate data on primarily non-medical spending for fiscal year 2012-2013 for persons with ASD with or without intellectual disability (ID) (main sample, n = 42,274), and two sub-samples: ASD only (n = 30,164), and ASD+ID (n = 12,110). Demographic variables included sex, age and race-ethnicity. Spending categories included Employment Support, Community Care Facilities, Day Care, Transportation, and in-home and out-of-home Respite. RESULTS: Per-person spending for males and females were approximately the same: $10,488 and $10,791 for males and females for ages 3-17 and $26,491 and $26,627 for ages 18+. Among race/ethnicity categories, the ranking from highest to lowest among ages 3-17 was white non-Hispanics ($11,480), Asian non-Hispanics ($11,036), « Others » ($11,031), Hispanics ($9,571), and African-American non-Hispanics ($9,482). For ages 18+, the ranking was whites ($31,008), African-Americans ($26,831), « Others » ($25,395), Asians ($22,993), and Hispanics ($18,083). The ASD+ID sub-sample exerted disproportionate influence on findings from the main sample for persons 18+. Combining all ages, the top two expenditure categories for per-person spending were Community Care Facilities ($43,867) and Day Care ($11,244). For most adult age groups, the percentage of recipients participating were highest for Day Care (44.9% – 62.4%) and Transportation (38.6% – 50.9%). Per-person spending for Day Care, Transportation, and Employment Support was relatively low for children but relatively high for adults. CONCLUSION: White non-Hispanics received the highest per-person spending and Hispanics among the least. Amounts within spending categories varied considerably across age groups. Our estimates may be useful as baseline measures for stakeholders preparing for increasing ASD prevalence, especially among adults.
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7. Skewes JC, Gebauer L. {{Brief Report: Suboptimal Auditory Localization in Autism Spectrum Disorder: Support for the Bayesian Account of Sensory Symptoms}}. {J Autism Dev Disord}. 2016.
Convergent research suggests that people with ASD have difficulties localizing sounds in space. These difficulties have implications for communication, the development of social behavior, and quality of life. Recently, a theory has emerged which treats perceptual symptoms in ASD as the product of impairments in implicit Bayesian inference; as suboptimalities in the integration of sensory evidence with prior perceptual knowledge. We present the results of an experiment that applies this new theory to understanding difficulties in auditory localization, and we find that adults with ASD integrate prior information less optimally when making perceptual judgments about the spatial sources of sounds. We discuss these results in terms of their implications for formal models of symptoms in ASD.
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8. Verma JK, Mohapatra S. {{Childhood Disintegrative Disorder as a Complication of Chicken Pox}}. {Indian J Psychol Med}. 2016; 38(1): 65-6.
Childhood disintegrative disorder (CDD) is characterized by late onset (>3 years of age) of developmental delays in language, social function and motor skills. Commonly there is no antecedent physical disorder leading to childhood disintegrative disorder. The present case report describes a child who developed childhood disintegrative disorder at the age of 6 years after an episode of chicken pox.
