1. Alexiou A, Soursou G, Yarla NS, Ashraf GM. {{Proteins commonly linked to Autism Spectrum Disorder and Alzheimer’s Disease}}. {Curr Protein Pept Sci};2017 (Sep 11)
Several years after the first publication of Barker’s Hypothesis the identification of common patterns and pathways between genetic and epigenetic risk factors in neurodegenerative disorders is still an open problem. For the cases of Alzheimer’s disease and Autism and by taking into consideration the increasing number of diagnosed cases globally, scientists focused on commonly expressed and related proteins like Amyloid beta and the mechanisms of their underlying dysfunctionalities. In this review paper, an attempt to specify significant correlations between proteins linked to Autism Spectrum Disorders and Alzheimer’s Disease is presented. Both diseases are highlighted with an emphasis on the macromolecules that play a fundamental role in their development. These proteins are described and analyzed concerning the underlying pathology of these diseases.
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2. Arias VB, Gomez LE, Moran ML, Alcedo MA, Monsalve A, Fontanil Y. {{Does Quality of Life Differ for Children With Autism Spectrum Disorder and Intellectual Disability Compared to Peers Without Autism?}}. {J Autism Dev Disord};2017 (Sep 11)
The main goal was to test if children with intellectual disability (ID) and autism spectrum disorder (ASD) show lower quality of life (QOL) in comparison to those with only ID. The KidsLife Scale was applied to 1060 children with ID, 25% of whom also had ASD, aged 4-21 years old. Those with ASD showed lower scores in several QOL domains but, when the effect of other variables was controlled, lower scores were only kept for interpersonal relationships, social inclusion, and physical wellbeing. Slightly higher scores were found for material wellbeing. ASD, Level of ID and support needs were the covariables with the greatest influence in most domains, while gender was only significant for social inclusion (girls scored lower than boys).
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3. Austin JE, Galijot R, Davies WH. {{Evaluating Parental Autism Disclosure Strategies}}. {J Autism Dev Disord};2017 (Sep 09)
The relative effects of different autism disclosure methods on the perceptions of a mother-child dyad were investigated. Using three conditions, disclosure card, disclosure bracelet, and no disclosure, U.S. community parents (N = 383) were asked 18 questions about their perceptions of the dyad. An ANOVA revealed significant protection from stigma for those in either disclosure condition compared to the no disclosure condition on two factors, Critical of the Mother/Child and Need to Protect Own Child, as well as a single item, Embarrassment for the Mother. These results reinforce findings that disclosure may effectively and efficiently reduce negative perceptions. The availability of multiple, effective methods of disclosure that reduce stigma allows parents to choose the method that best suits their individual preferences.
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4. Deserno MK, Borsboom D, Begeer S, Geurts HM. {{Relating ASD symptoms to well-being: moving across different construct levels}}. {Psychol Med};2017 (Sep 11):1-14.
BACKGROUND: Little is known about the specific factors that contribute to the well-being (WB) of individuals with autism spectrum disorder (ASD). A plausible hypothesis is that ASD symptomatology has a direct negative effect on WB. In the current study, the emerging tools of network analysis allow to explore the functional interdependencies between specific symptoms of ASD and domains of WB in a multivariate framework. We illustrate how studying both higher-order (total score) and lower-order (subscale) representations of ASD symptomatology can clarify the interrelations of factors relevant for domains of WB. METHODS: We estimated network structures on three different construct levels for ASD symptomatology, as assessed with the Adult Social Behavior Questionnaire (item, subscale, total score), relating them to daily functioning (DF) and subjective WB in 323 adult individuals with clinically identified ASD (aged 17-70 years). For these networks, we assessed the importance of specific factors in the network structure. RESULTS: When focusing on the highest representation level of ASD symptomatology (i.e. a total score), we found a negative connection between ASD symptom severity and domains of WB. However, zooming in on lower representation levels of ASD symptomatology revealed that this connection was mainly funnelled by ASD symptoms related to insistence on sameness and experiencing reduced contact and that those symptom scales, in turn, impact different domains of WB. CONCLUSIONS: Zooming in across construct levels of ASD symptom severity into subscales of ASD symptoms can provide us with important insights into how specific domains of ASD symptoms relate to specific domains of DF and WB.
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5. Fatemi SH, Folsom TD, Thuras PD. {{Altered subcellular localization of fragile X mental retardation signaling partners and targets in superior frontal cortex of individuals with schizophrenia}}. {Neuroreport};2017 (Sep 11)
Schizophrenia is a severe, debilitating, neurodevelopmental disorder that affects 1% of the world’s population. Recent findings from our laboratory have identified reduced levels of fragile X mental retardation protein (FMRP) and several downstream FMRP targets in superior frontal cortex of individuals with schizophrenia. We hypothesized that altered subcellular expression of FMRP and its signaling partners may explain these changes. In the current study we employed subcellular fractionation and western blotting to determine levels of FMRP, phosphorylated-FMRP as well as selected signaling partners [protein phosphatase 2A catalytic subunit (PP2AC), p70 S6 kinase (p70 S6K), and amyloid-beta A4 precursor protein (APP)] in the total homogenate, nuclear, and rough endoplasmic reticulum fractions in superior frontal cortex of individuals with schizophrenia versus controls (N=12/group). In total homogenate of individuals with schizophrenia, we identified significantly lower levels of FMRP, phosphorylated-FMRP, and PP2AC. In the nuclear fraction of individuals with schizophrenia we found significantly higher levels of PP2AC, p70 S6K, APP 120 kDa, and APP 88 kDa proteins. Finally, in rough endoplasmic reticulum of individuals with schizophrenia, we identified significantly lower protein levels of p70 S6K and APP 120 kDa. These results provide evidence for a potential mechanism to explain altered FMRP expression in schizophrenia.
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6. Fluegge K. {{Impaired amino acid metabolism in autism spectrum disorders}}. {Biomark Med};2017 (Sep 11)
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7. Iao LS, Wippich A, Lam YH. {{Brief Report: Discrimination of Foreign Speech Pitch and Autistic Traits in Non-Clinical Population}}. {J Autism Dev Disord};2017 (Sep 09)
Individuals with Autism Spectrum Conditions (ASC) are widely suggested to show enhanced perceptual discrimination but inconsistent findings have been reported for pitch discrimination. Given the high variability in ASC, this study investigated whether ASC traits were correlated with pitch discrimination in an undergraduate sample when musical and language experiences were taken into consideration. Results indicated that the social skills subscale of the Autism Spectrum Quotient was associated with foreign speech pitch discrimination, suggesting that individuals who were less sociable and socially skillful were less able to discriminate foreign speech pitch. Current findings have an implication in investigating individual differences in ASC and further investigation is needed for spelling out the relationship between the non-social and social aspects of ASC.
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8. St John T, Dawson G, Estes A. {{Brief Report: Executive Function as a Predictor of Academic Achievement in School-Aged Children with ASD}}. {J Autism Dev Disord};2017 (Sep 09)
The contributions of Executive Function (EF) to academic achievement in children with Autism Spectrum Disorder (ASD) are not well understood. Academic achievement and its association with EF is described in 32, 9-year-old children with ASD. EF at age 6 and 9, and academic achievement at age 9 were assessed as part of a larger longitudinal study. Better performance on a Spatial Reversal task but not A-not-B with Invisible Displacement at age 6 was associated with better math achievement at age 9. No relationship was found between these EF measures at age 6 and reading or spelling achievement at age 9. Future studies are needed to explore whether improving early EF skills can increase math achievement in children with ASD.
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9. Stelten BML, Bonnot O, Huidekoper HH, van Spronsen FJ, van Hasselt PM, Kluijtmans LAJ, Wevers RA, Verrips A. {{Autism spectrum disorder: an early and frequent feature in cerebrotendinous xanthomatosis}}. {J Inherit Metab Dis};2017 (Sep 11)
BACKGROUND: Cerebrotendinous xanthomatosis (CTX) is an autosomal recessively inherited inborn error of metabolism (IEM) due to mutations in the CYP27A1 gene. The clinical picture ranges from being nearly asymptomatic in early childhood, up to severe disability at adult age. Infantile-onset diarrhea and juvenile-onset cataract are the earliest symptoms in childhood. In the current study, we evaluated the presence of autism spectrum disorder (ASD) in a large cohort of CTX patients. METHODS: We performed a retrospective patient file study in 77 genetically confirmed Dutch CTX patients to determine the frequency of ASD. In addition, we compared plasma cholestanol levels in CTX patients with and without a diagnosis of ASD and tried to establish a relation between CYP27A1 genotype and ASD. RESULTS: In our CTX cohort, 10 patients (13%; nine pediatric and one adult) with ASD were identified. At the time of diagnosis of ASD, most patients only exhibited symptoms of diarrhea and/or intellectual disability without signs of cataract or neurological symptoms. No correlation was found between the presence of ASD and the level of cholestanol or CYP27A1 genotype. The behavioral problems stabilized or improved after treatment initiation with chenodeoxycholic acid (CDCA) in all pediatric patients. CONCLUSIONS: We conclude that ASD is an early and probably underestimated frequent feature in CTX. Metabolic screening for CTX should be performed in patients with ASD when accompanied by diarrhea, intellectual disability, juvenile cataract, and/or neurological involvement. Early recognition allows for earlier initiation of specific treatment and will improve clinical outcome. Our results add CTX to the list of treatable IEMs associated with ASD.
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10. Stewart ME, Petrou AM, Ota M. {{Categorical Speech Perception in Adults with Autism Spectrum Conditions}}. {J Autism Dev Disord};2017 (Sep 11)
This study tested whether individuals with autism spectrum conditions (n = 23) show enhanced discrimination of acoustic differences that signal a linguistic contrast (i.e., /g/ versus /k/ as in ‘goat’ and ‘coat’) and whether they process such differences in a less categorical fashion as compared with 23 IQ-matched typically developed adults. Tasks administered were nonverbal IQ, verbal IQ, 5 language measures, a speech perception task, and the ADOS. The speech perception task measured the discrimination of paired exemplars along the /g/-/k/ continuum. Individuals with autism spectrum conditions did not show enhanced discrimination of speech perception. Categorical speech perception was correlated with verbal ability of reading, lexical decision, and verbal IQ in individuals with autism spectrum conditions.
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11. Taylor JL, DaWalt LS. {{Brief Report: Postsecondary Work and Educational Disruptions for Youth on the Autism Spectrum}}. {J Autism Dev Disord};2017 (Sep 09)
This study examined vocational/educational disruption in the 2-3 years after high school for 36 youth with autism spectrum disorder (ASD). Data were collected three times from parents: during youth’s last year of high school and two times after high school exit. Data were coded into categories indicating any versus no disruptions in postsecondary vocation/education, and group differences in individual (behavior problems, IQ, adaptive behavior, autism severity, stress reactivity) and family (parent depression, anxiety, quality of life; family income and climate) factors were examined. One-half of youth had experienced a postsecondary vocational/educational disruption; parents of those with a disruption had more depressive and anxiety symptoms and lower quality of life while their son/daughter was still in high school.
