1. El-Ansary A, Hassan WM, Qasem H, Das UN. {{Identification of Biomarkers of Impaired Sensory Profiles among Autistic Patients}}. {PLoS One};2016;11(11):e0164153.
BACKGROUND: Autism is a neurodevelopmental disorder that displays significant heterogeneity. Comparison of subgroups within autism, and analyses of selected biomarkers as measure of the variation of the severity of autistic features such as cognitive dysfunction, social interaction impairment, and sensory abnormalities might help in understanding the pathophysiology of autism. METHODS AND PARTICIPANTS: In this study, two sets of biomarkers were selected. The first included 7, while the second included 6 biomarkers. For set 1, data were collected from 35 autistic and 38 healthy control participants, while for set 2, data were collected from 29 out of the same 35 autistic and 16 additional healthy subjects. These markers were subjected to a principal components analysis using either covariance or correlation matrices. Moreover, libraries composed of participants categorized into units were constructed. The biomarkers used include, PE (phosphatidyl ethanolamine), PS (phosphatidyl serine), PC (phosphatidyl choline), MAP2K1 (Dual specificity mitogen-activated protein kinase kinase 1), IL-10 (interleukin-10), IL-12, NFkappaB (nuclear factor-kappaappa B); PGE2 (prostaglandin E2), PGE2-EP2, mPGES-1 (microsomal prostaglandin synthase E-1), cPLA2 (cytosolic phospholipase A2), 8-isoprostane, and COX-2 (cyclo-oxygenase-2). RESULTS: While none of the studied markers correlated with CARS and SRS as measure of cognitive and social impairments, six markers significantly correlated with sensory profiles of autistic patients. Multiple regression analysis identifies a combination of PGES, mPGES-1, and PE as best predictors of the degree of sensory profile impairment. Library identification resulted in 100% correct assignments of both autistic and control participants based on either set 1 or 2 biomarkers together with a satisfactory rate of assignments in case of sensory profile impairment using different sets of biomarkers. CONCLUSION: The two selected sets of biomarkers were effective to separate autistic from healthy control subjects, demonstarting the possibility to accurately predict the severity of autism using the selected biomarkers. The effectiveness of the identified libraries lied in the fact that they were helpful in correctly assigning the study population as control or autistic patients and in classifying autistic patients with different degree of sensory profile impairment.
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2. Forgeot d’Arc B, Vinckier F, Lebreton M, Soulieres I, Mottron L, Pessiglione M. {{Mimetic desire in autism spectrum disorder}}. {Mol Autism};2016;7:45.
Mimetic desire (MD), the spontaneous propensity to pursue goals that others pursue, is a case of social influence that is believed to shape preferences. Autism spectrum disorder (ASD) is defined by both atypical interests and altered social interaction. We investigated whether MD is lower in adults with ASD compared to typically developed adults and whether MD correlates with social anhedonia and social judgment, two aspects of atypical social functioning in autism. Contrary to our hypotheses, MD was similarly present in both ASD and control groups. Anhedonia and social judgment differed between the ASD and control groups but did not correlate with MD. These results extend previous findings by suggesting that basic mechanisms of social influence are preserved in autism. The finding of intact MD in ASD stands against the intuitive idea that atypical interests stem from reduced social influence and indirectly favors the possibility that special interests might be selected for their intrinsic properties.
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3. Kantzer AK, Fernell E, Westerlund J, Hagberg B, Gillberg C, Miniscalco C. {{Young children who screen positive for autism: Stability, change and « comorbidity » over two years}}. {Res Dev Disabil};2016 (Nov 3)
BACKGROUND: Autism spectrum disorder (ASD) is a developmental disorder with a wide variety of clinical phenotypes and co-occurrences with other neurodevelopmental conditions. Symptoms may change over time. AIMS: The aim of the present study was to prospectively follow 96 children, initially assessed for suspected ASD at an average age of 2.9 years. METHODS AND PROCEDURES: All children had been identified with autistic symptoms in a general population child health screening program, and had been referred to the Child Neuropsychiatry Clinic in Gothenburg, Sweden for further assessment by a multi-professional team at Time 1 (T1). This assessment included a broad neurodevelopmental examination, structured interviews, a cognitive test and evaluations of the childs adaptive and global functioning. Two years later, at Time 2 (T2), the children and their parents were invited for a follow-up assessment by the same team using the same methods. OUTCOMES AND RESULTS: Of the 96 children, 76 had met and 20 had not met full criteria for ASD at T1. Of the same 96 children, 79 met full ASD criteria at T2. The vast majority of children with ASD also had other neurodevelopmental symptoms or diagnoses. Hyperactivity was observed in 42% of children with ASD at T2, and Intellectual Developmental Disorder in 30%. Borderline Intellectual Functioning was found in 25%, and severe speech and language disorder in 20%. The children who did not meet criteria for ASD at T2 had symptoms of or met criteria for other neurodevelopmental/neuropsychiatric disorders in combination with marked autistic traits. Changes in developmental profiles between T1 and T2 were common in this group of young children with ASD. The main effect of Cognitive level at T1 explained more than twice as much of the variance in Vineland scores as did the ASD subtype; children with IDD had significantly lower scores than children in the BIF and AIF group. Co-existence with other conditions was the rule. CONCLUSIONS AND IMPLICATIONS: Reassessments covering the whole range of these conditions are necessary for an optimized intervention-adapted to the individual child’s needs.
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4. Rahbar MH, Samms-Vaughan M, Pitcher MR, Bressler J, Hessabi M, Loveland KA, Christian MA, Grove ML, Shakespeare-Pellington S, Beecher C, McLaughlin W, Boerwinkle E. {{Role of Metabolic Genes in Blood Aluminum Concentrations of Jamaican Children with and without Autism Spectrum Disorder}}. {Int J Environ Res Public Health};2016 (Nov 08);13(11)
Aluminum is a neurotoxic metal with known health effects in animals and humans. Glutathione-S-transferase (GST) genes and enzymes play a major role in detoxification of several heavy metals. Besides a direct relationship with oxidative stress; aluminum decreases GST enzyme activities. Using data from 116 Jamaican children; age 2-8 years; with Autism Spectrum Disorder (ASD) and 116 sex- and age-matched typically developing (TD) children; we investigated the association of polymorphisms in three GST genes (GSTP1; GSTM1; and GSTT1) with mean blood aluminum concentrations in children with and without ASD. Using log-transformed blood aluminum concentration as the dependent variable in a linear regression model; we assessed the additive and interactive effects of ASD status and polymorphisms in the three aforementioned GST genes in relation to blood aluminum concentrations. Although none of the additive effects were statistically significant (all p > 0.16); we observed a marginally significant interaction between GSTP1 Ile105Val (rs1695) and ASD status (p = 0.07); even after controlling for parental education level and consumption of avocado; root vegetables; and tuna (canned fish). Our findings indicate a significantly lower (p < 0.03) adjusted geometric mean blood aluminum concentration for TD children who had the Val/Val genotype (14.57 microg/L); compared with those with Ile/Ile or Ile/Val genotypes who had an adjusted geometric mean of 23.75 microg/L. However; this difference was not statistically significant among the ASD cases (p = 0.76). Our findings indicate that ASD status may be a potential effect modifier when assessing the association between GSTP1 rs1695 and blood aluminum concentrations among Jamaican children. These findings require replication in other populations. Lien vers le texte intégral (Open Access ou abonnement)
5. Ruskin DN, Fortin JA, Bisnauth SN, Masino SA. {{Ketogenic diets improve behaviors associated with autism spectrum disorder in a sex-specific manner in the EL mouse}}. {Physiol Behav};2016 (Nov 8)
The core symptoms of autism spectrum disorder are poorly treated with current medications. Symptoms of autism spectrum disorder are frequently comorbid with a diagnosis of epilepsy and vice versa. Medically-supervised ketogenic diets are remarkably effective nonpharmacological treatments for epilepsy, even in drug-refractory cases. There is accumulating evidence for beneficial effects of ketogenic diets against core symptoms of autism spectrum disorders in animal models and limited reports of benefits in patients. This study tests the behavioral effects of ketogenic diet feeding in the EL mouse, a model with behavioral characteristics of autism spectrum disorder and comorbid epilepsy. Male and female EL mice were fed control diet or one of two ketogenic diet formulas ad libitum starting at 5weeks of age. Beginning at 8weeks of age, diet protocols continued and performance of each group on tests of sociability and repetitive behavior was assessed. A ketogenic diet improved behavioral characteristics of autism spectrum disorder, and results depended on sex and type of test; ketogenic diet never worsened relevant behaviors. Ketogenic diet feeding improved multiple measures of sociability and reduced repetitive behavior in female mice; effects in males were more limited. Additional experiments in female mice showed that a less strict, more clinically-relevant diet formula was equally effective in improving sociability and reducing repetitive behavior. Taken together these results add to the growing number of studies suggesting that ketogenic and related diets may provide significant relief from the core symptoms of autism spectrum disorder, and suggest that in some cases there may be increased efficacy in females.
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6. Sernheim AS, Hemmingsson H, Witt Engerstrom I, Liedberg G. {{Activities that girls and women with Rett syndrome liked or did not like to do}}. {Scand J Occup Ther};2016 (Nov 6):1-11.
OBJECTIVE: Activities occur in all people’s lives. This study investigated over a period of time, 15 years, what activities were enjoyed or not enjoyed and what activities parents and staff liked to do with girls/women with Rett syndrome. METHOD: A descriptive study was conducted using secondary data from three earlier questionnaires at the Swedish National Rett Center. The first questionnaire provided data on 123 girls/women with Rett syndrome, the second on 52 and the third questionnaire, on 39. Informants were parents and/or staff, in total 365. Open-ended questions were analysed using a content analysis approach. RESULTS: Three categories appeared: Being in motion, receiving impressions and having contact. Bathing/swimming, listening to music and being outdoors/walking were the most enjoyed activities over the years. Of the few activities that were reported as being unenjoyable, most were daily care activities. The activities that the parents/staff enjoyed doing with the girls/women were similar to those the girls/women themselves liked to do. CONCLUSION: A preliminary overview for both liked and disliked activities of girls/women with Rett syndrome was presented. This knowledge could facilitate the choice and use of activities.
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7. Tillmann J, Swettenham J. {{Visual Perceptual Load Reduces Auditory Detection in Typically Developing Individuals but Not in Individuals With Autism Spectrum Disorders}}. {Neuropsychology};2016 (Nov 7)
Objective: Previous studies examining selective attention in individuals with autism spectrum disorder (ASD) have yielded conflicting results, some suggesting superior focused attention (e.g., on visual search tasks), others demonstrating greater distractibility. This pattern could be accounted for by the proposal (derived by applying the Load theory of attention, e.g., Lavie, 2005) that ASD is characterized by an increased perceptual capacity (Remington, Swettenham, Campbell, & Coleman, 2009). Recent studies in the visual domain support this proposal. Here we hypothesize that ASD involves an enhanced perceptual capacity that also operates across sensory modalities, and test this prediction, for the first time using a signal detection paradigm. Method: Seventeen neurotypical (NT) and 15 ASD adolescents performed a visual search task under varying levels of visual perceptual load while simultaneously detecting presence/absence of an auditory tone embedded in noise. Results: Detection sensitivity (d’) for the auditory stimulus was similarly high for both groups in the low visual perceptual load condition (e.g., 2 items: p = .391, d = 0.31, 95% confidence interval [CI] [-0.39, 1.00]). However, at a higher level of visual load, auditory d’ reduced for the NT group but not the ASD group, leading to a group difference (p = .002, d = 1.2, 95% CI [0.44, 1.96]). As predicted, when visual perceptual load was highest, both groups then showed a similarly low auditory d’ (p = .9, d = 0.05, 95% CI [-0.65, 0.74]). Conclusions: These findings demonstrate that increased perceptual capacity in ASD operates across modalities. (PsycINFO Database Record
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8. Urbanowicz A, Downs J, Girdler S, Ciccone N, Leonard H. {{An Exploration of the Use of Eye Gaze and Gestures in Females With Rett Syndrome}}. {J Speech Lang Hear Res};2016 (Nov 8):1-11.
Purpose: This study investigated the communicative use of eye gaze and gestures in females with Rett syndrome. Method: Data on 151 females with Rett syndrome participating in the Australian Rett Syndrome Database was used in this study. Items from the Communication and Symbolic Behavior Scales Developmental Profile Infant-Toddler Checklist (Wetherby & Prizant, 2002) were used to measure communication. Relationships between the use of eye gaze and gestures for communication were investigated using logistic regression. The influences of MECP2 mutation type, age, and level of motor abilities on the use of eye gaze and gestures were investigated using multivariate linear regression. Results: Both eye gaze and the use of gestures predicted the ability to make requests. Women aged 19 years or older had the lowest scores for eye gaze. Females with better gross motor abilities had higher scores for the use of eye gaze and gestures. The use of eye gaze did not vary across mutation groups, but those with a C-terminal deletion had the highest scores for use of gestures. Conclusions: Eye gaze is used more frequently than gestures for communication, and this is related to age, MECP2 mutation type, and gross motor abilities.
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9. Wang T, Guo H, Xiong B, Stessman HA, Wu H, Coe BP, Turner TN, Liu Y, Zhao W, Hoekzema K, Vives L, Xia L, Tang M, Ou J, Chen B, Shen Y, Xun G, Long M, Lin J, Kronenberg ZN, Peng Y, Bai T, Li H, Ke X, Hu Z, Zhao J, Zou X, Xia K, Eichler EE. {{De novo genic mutations among a Chinese autism spectrum disorder cohort}}. {Nat Commun};2016 (Nov 08);7:13316.
Recurrent de novo (DN) and likely gene-disruptive (LGD) mutations contribute significantly to autism spectrum disorders (ASDs) but have been primarily investigated in European cohorts. Here, we sequence 189 risk genes in 1,543 Chinese ASD probands (1,045 from trios). We report an 11-fold increase in the odds of DN LGD mutations compared with expectation under an exome-wide neutral model of mutation. In aggregate, approximately 4% of ASD patients carry a DN mutation in one of just 29 autism risk genes. The most prevalent gene for recurrent DN mutations is SCN2A (1.1% of patients) followed by CHD8, DSCAM, MECP2, POGZ, WDFY3 and ASH1L. We identify novel DN LGD recurrences (GIGYF2, MYT1L, CUL3, DOCK8 and ZNF292) and DN mutations in previous ASD candidates (ARHGAP32, NCOR1, PHIP, STXBP1, CDKL5 and SHANK1). Phenotypic follow-up confirms potential subtypes and highlights how large global cohorts might be leveraged to prove the pathogenic significance of individually rare mutations.
