1. Carmo JC, Duarte E, Souza C, Pinho S, Filipe CN. {{Brief Report: Testing the Impairment of Initiation Processes Hypothesis in Autism Spectrum Disorder}}. {J Autism Dev Disord};2017 (Jan 31)
In the present study we aim at providing further evidences for the validity of an initiation processes impairment in autism spectrum disorder (ASD). We applied different verbal fluency tasks designed to decrease or enhance this limitation. A group of high-functioning individuals with ASD and a group of typically developed individuals matched for -age, -IQ and -education, were tested in three verbal fluency tasks. In task 1, we replicated previous findings of an initiation impairment. In tasks 2 and 3, with simple manipulations, we observed that the differences between the groups were respectively eliminated or enhanced. We have not only provided further evidence of impairments in the initiation of a response, but we remarkably show how to circumvent them.
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2. Crawford H, Waite J, Oliver C. {{Diverse Profiles of Anxiety Related Disorders in Fragile X, Cornelia de Lange and Rubinstein-Taybi Syndromes}}. {J Autism Dev Disord};2017 (Jan 31)
Anxiety disorders are heightened in specific genetic syndromes in comparison to intellectual disability of heterogeneous aetiology. In this study, we described and contrasted anxiety symptomatology in fragile X (FXS), Cornelia de Lange (CdLS) and Rubinstein-Taybi syndromes (RTS), and compared the symptomatology to normative data for typically-developing children and children diagnosed with an anxiety disorder. Scores did not differ between children diagnosed with an anxiety disorder and (a) participants with FXS on social phobia, panic/agoraphobia, physical injury fears, and obsessive-compulsive subscales (b) participants with CdLS on separation anxiety, generalized anxiety, panic/agoraphobia, physical injury fears and obsessive-compulsive subscales, and (c) participants with RTS on panic/agoraphobia and obsessive-compulsive subscales. The results highlight divergent profiles of anxiety symptomatology between these groups.
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3. Gu F, Chauhan V, Chauhan A. {{Monoamine oxidase-A and B activities in the cerebellum and frontal cortex of children and young adults with autism}}. {J Neurosci Res};2017 (Feb 02)
Monoamine oxidases (MAOs) catalyze the metabolism of monoamine neurotransmitters, such as serotonin, dopamine, and norepinephrine, and are key regulators for brain function. In this study, we analyzed the activities of MAO-A and MAO-B in the cerebellum and frontal cortex from subjects with autism and age-matched control subjects. In the cerebellum, MAO-A activity in subjects with autism (aged 4-38 years) was significantly lower by 20.6% than in controls. When the subjects were divided into children (aged 4-12 years) and young adults (aged 13-38 years) subgroups, a significant decrease by 27.8% in the MAO-A activity was observed only in children with autism compared with controls. When the 95% confidence interval of the control group was taken as a reference range, reduced activity of MAO-A was observed in 70% of children with autism. In the frontal cortex, MAO-A activity in children with autism was also lower by 30% than in the control group, and impaired activity of MAO-A was observed in 55.6% of children with autism, although the difference between the autism and control groups was not significant when all subjects were considered. On the contrary, there was no significant difference in MAO-B activity in both the cerebellum and frontal cortex between children with autism and the control group as well as in adults. These results suggest impaired MAO-A activity in the brain of subjects with autism, especially in children with autism. Decreased activity of MAOs may lead to increased levels of monoaminergic neurotransmitters, such as serotonin, which have been suggested to have a critical role in autism. (c) 2017 Wiley Periodicals, Inc.
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4. Ingersoll BR, Wainer AL, Berger NI, Walton KM. {{Efficacy of low intensity, therapist-implemented Project ImPACT for increasing social communication skills in young children with ASD}}. {Dev Neurorehabil};2017 (Feb 02):1-9.
Project ImPACT is a Naturalistic Developmental Behavioral Intervention (NDBI) for young children with ASD. Preliminary research supports its feasibility and efficacy as a parent-mediated intervention; however, its efficacy as a low-intensity, therapist-implemented intervention is unclear. A single-case, multiple-baseline design evaluated the effect of 2 h per week of therapist-implemented Project ImPACT on social engagement, language, and play in nine children with ASD. Language and play skills were targeted separately for five children and together for four children. Children increased their rates of social engagement and language when language or play was the sole target and when language and play were targeted together; however, gains in play skills were evident only when they were targeted separately. This study provides support for the efficacy of the Project ImPACT when implemented by therapists at a low intensity and suggests the way in which skills are targeted can affect child learning.
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5. Jack A, Keifer CM, Pelphrey KA. {{Cerebellar contributions to biological motion perception in autism and typical development}}. {Hum Brain Mapp};2017 (Feb 02)
Growing evidence suggests that posterior cerebellar lobe contributes to social perception in healthy adults. However, they know little about how this process varies across age and with development. Using cross-sectional fMRI data, they examined cerebellar response to biological (BIO) versus scrambled (SCRAM) motion within typically developing (TD) and autism spectrum disorder (ASD) samples (age 4-30 years old), characterizing cerebellar response and BIO > SCRAM-selective effective connectivity, as well as associations with age and social ability. TD individuals recruited regions throughout cerebellar posterior lobe during BIO > SCRAM, especially bilateral lobule VI, and demonstrated connectivity with right posterior superior temporal sulcus (RpSTS) in left VI, Crus I/II, and VIIIb. ASD individuals showed BIO > SCRAM activity in left VI and left Crus I/II, and bilateral connectivity with RpSTS in Crus I/II and VIIIb/IX. No between-group differences emerged in well-matched subsamples. Among TD individuals, older age predicted greater BIO > SCRAM response in left VIIb and left VIIIa/b, but reduced connectivity between RpSTS and widespread regions of the right cerebellum. In ASD, older age predicted greater response in left Crus I and bilateral Crus II, but decreased effective connectivity with RpSTS in bilateral Crus I/II. In ASD, increased BIO > SCRAM signal in left VI/Crus I and right Crus II, VIIb, and dentate predicted lower social symptomaticity; increased effective connectivity with RpSTS in right Crus I/II and bilateral VI and I-V predicted greater symptomaticity. These data suggest that posterior cerebellum contributes to the neurodevelopment of social perception in both basic and clinical populations. Hum Brain Mapp, 2017. (c) 2017 Wiley Periodicals, Inc.
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6. Leser KA, Pirie PL, Ferketich AK, Havercamp SM, Wewers ME. {{Dietary and physical activity behaviors of adults with developmental disabilities and their direct support professional providers}}. {Disabil Health J};2017 (Jan 24)
BACKGROUND: People with developmental disabilities lead more sedentary lifestyles, consume poorer diets, as well as have higher rates of chronic conditions such as diabetes and heart disease when compared to members of the general population. Direct support professionals play a large social role in the lives of their clients with developmental disabilities, and thus have the ability to influence the health behaviors of their clients. OBJECTIVES: The overall purpose of this study was to examine the relationship between the dietary and physical activity behaviors of direct support professionals and their clients with developmental disabilities, as well as to assess how direct support professionals facilitate the health behaviors of their clients. METHODS: A statewide random sample of direct support professionals (n = 398) completed an online survey about their own dietary/physical activity behaviors and these same health behaviors of their adult clients with developmental disabilities. Pearson/Spearman correlations were used to examine the relationship between the health behaviors of direct support professionals and their clients with developmental disabilities. RESULTS: Small-to-moderate correlations (rho or r = 0.127-0.333) between direct support professionals’ and clients’ behaviors existed for all dietary and physical activity health behaviors except for participation in some sort of moderate-to-vigorous physical activity each week (rho = 0.098, p = 0.06). CONCLUSIONS: Direct support professionals appear to play a role in the dietary/physical activity behaviors of their clients; however, future research on this topic should also include other key members of the social networks of adults with developmental disabilities such as family members, roommates, and day-habilitation providers.
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7. Mucerino S, Di Salle A, Alessio N, Margarucci S, Nicolai R, Melone MA, Galderisi U, Peluso G. {{Alterations in the carnitine cycle in a mouse model of Rett syndrome}}. {Sci Rep};2017 (Feb 02);7:41824.
Rett syndrome (RTT) is a neurodevelopmental disease that leads to intellectual deficit, motor disability, epilepsy and increased risk of sudden death. Although in up to 95% of cases this disease is caused by de novo loss-of-function mutations in the X-linked methyl-CpG binding protein 2 gene, it is a multisystem disease associated also with mitochondrial metabolic imbalance. In addition, the presence of long QT intervals (LQT) on the patients’ electrocardiograms has been associated with the development of ventricular tachyarrhythmias and sudden death. In the attempt to shed light on the mechanism underlying heart failure in RTT, we investigated the contribution of the carnitine cycle to the onset of mitochondrial dysfunction in the cardiac tissues of two subgroups of RTT mice, namely Mecp2+/- NQTc and Mecp2+/- LQTc mice, that have a normal and an LQT interval, respectively. We found that carnitine palmitoyltransferase 1 A/B and carnitine acylcarnitine translocase were significantly upregulated at mRNA and protein level in the heart of Mecp2+/- mice. Moreover, the carnitine system was imbalanced in Mecp2+/- LQTc mice due to decreased carnitine acylcarnitine transferase expression. By causing accumulation of intramitochondrial acylcarnitines, this imbalance exacerbated incomplete fatty acid oxidation, which, in turn, could contribute to mitochondrial overload and sudden death.
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8. Nagode DA, Meng X, Winkowski DE, Smith E, Khan-Tareen H, Kareddy V, Kao JP, Kanold PO. {{Abnormal Development of the Earliest Cortical Circuits in a Mouse Model of Autism Spectrum Disorder}}. {Cell Rep};2017 (Jan 31);18(5):1100-1108.
Autism spectrum disorder (ASD) involves deficits in speech and sound processing. Cortical circuit changes during early development likely contribute to such deficits. Subplate neurons (SPNs) form the earliest cortical microcircuits and are required for normal development of thalamocortical and intracortical circuits. Prenatal valproic acid (VPA) increases ASD risk, especially when present during a critical time window coinciding with SPN genesis. Using optical circuit mapping in mouse auditory cortex, we find that VPA exposure on E12 altered the functional excitatory and inhibitory connectivity of SPNs. Circuit changes manifested as « patches » of mostly increased connection probability or strength in the first postnatal week and as general hyper-connectivity after P10, shortly after ear opening. These results suggest that prenatal VPA exposure severely affects the developmental trajectory of cortical circuits and that sensory-driven activity may exacerbate earlier, subtle connectivity deficits. Our findings identify the subplate as a possible common pathophysiological substrate of deficits in ASD.
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9. Sasson NJ, Faso DJ, Nugent J, Lovell S, Kennedy DP, Grossman RB. {{Neurotypical Peers are Less Willing to Interact with Those with Autism based on Thin Slice Judgments}}. {Sci Rep};2017 (Feb 01);7:40700.
Individuals with autism spectrum disorder (ASD), including those who otherwise require less support, face severe difficulties in everyday social interactions. Research in this area has primarily focused on identifying the cognitive and neurological differences that contribute to these social impairments, but social interaction by definition involves more than one person and social difficulties may arise not just from people with ASD themselves, but also from the perceptions, judgments, and social decisions made by those around them. Here, across three studies, we find that first impressions of individuals with ASD made from thin slices of real-world social behavior by typically-developing observers are not only far less favorable across a range of trait judgments compared to controls, but also are associated with reduced intentions to pursue social interaction. These patterns are remarkably robust, occur within seconds, do not change with increased exposure, and persist across both child and adult age groups. However, these biases disappear when impressions are based on conversational content lacking audio-visual cues, suggesting that style, not substance, drives negative impressions of ASD. Collectively, these findings advocate for a broader perspective of social difficulties in ASD that considers both the individual’s impairments and the biases of potential social partners.
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10. Schmunk G, Nguyen RL, Ferguson DL, Kumar K, Parker I, Gargus JJ. {{High-throughput screen detects calcium signaling dysfunction in typical sporadic autism spectrum disorder}}. {Sci Rep};2017 (Feb 01);7:40740.
Autism spectrum disorder (ASD) is a heterogeneous group of neurodevelopmental disorders without any defined uniting pathophysiology. Ca2+ signaling is emerging as a potential node in the genetic architecture of the disorder. We previously reported decreased inositol trisphosphate (IP3)-mediated Ca2+ release from the endoplasmic reticulum in several rare monogenic syndromes highly comorbid with autism – fragile X and tuberous sclerosis types 1 and 2 syndromes. We now extend those findings to a cohort of subjects with sporadic ASD without any known mutations. We developed and applied a high throughput Fluorometric Imaging Plate Reader (FLIPR) assay to monitor agonist-evoked Ca2+ signals in human primary skin fibroblasts. Our results indicate that IP3 -mediated Ca2+ release from the endoplasmic reticulum in response to activation of purinergic receptors is significantly depressed in subjects with sporadic as well as rare syndromic forms of ASD. We propose that deficits in IP3-mediated Ca2+ signaling represent a convergent hub function shared across the spectrum of autistic disorders – whether caused by rare highly penetrant mutations or sporadic forms – and holds promise as a biomarker for diagnosis and novel drug discovery.
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11. Yamasaki T, Maekawa T, Miyanaga Y, Takahashi K, Takamiya N, Ogata K, Tobimatsu S. {{Enhanced Fine-Form Perception Does Not Contribute to Gestalt Face Perception in Autism Spectrum Disorder}}. {PLoS One};2017;12(2):e0170239.
Individuals with autism spectrum disorder (ASD) show superior performance in processing fine detail, but often exhibit impaired gestalt face perception. The ventral visual stream from the primary visual cortex (V1) to the fusiform gyrus (V4) plays an important role in form (including faces) and color perception. The aim of this study was to investigate how the ventral stream is functionally altered in ASD. Visual evoked potentials were recorded in high-functioning ASD adults (n = 14) and typically developing (TD) adults (n = 14). We used three types of visual stimuli as follows: isoluminant chromatic (red/green, RG) gratings, high-contrast achromatic (black/white, BW) gratings with high spatial frequency (HSF, 5.3 cycles/degree), and face (neutral, happy, and angry faces) stimuli. Compared with TD controls, ASD adults exhibited longer N1 latency for RG, shorter N1 latency for BW, and shorter P1 latency, but prolonged N170 latency, for face stimuli. Moreover, a greater difference in latency between P1 and N170, or between N1 for BW and N170 (i.e., the prolongation of cortico-cortical conduction time between V1 and V4) was observed in ASD adults. These findings indicate that ASD adults have enhanced fine-form (local HSF) processing, but impaired color processing at V1. In addition, they exhibit impaired gestalt face processing due to deficits in integration of multiple local HSF facial information at V4. Thus, altered ventral stream function may contribute to abnormal social processing in ASD.
