1. Connolly AJ, Rinehart NJ, Johnson B, Papadopoulos N, Fielding J. {{Voluntary saccades in attention-deficit/hyperactivity disorder: Looking into the relationship between motor impairment and Autism Spectrum Disorder symptoms}}. {Neuroscience};2016 (Oct 15);334:47-54.
Although there is little overlap in core diagnostic criteria for ADHD and Autism Spectrum Disorder (ASD), ASD symptoms are estimated to co-occur in children with ADHD in 20-50% of cases. As motor control deficits are common to both disorders, we investigated the impact of ASD symptoms on ocular motor control in children with Attention Deficit Hyperactivity Disorder-Combined Type (ADHD-CT), using a cued saccade paradigm sensitive to cerebellar ocular motor impairment in ASD. Basic saccade metrics (latency, velocity and accuracy), trial-to-trial variability, and main sequences relationships (saccade velocity for a given amplitude) were assessed, for 14 males with ADHD-CT and 14 typically developing (TD) males (aged 8-14, IQ>80). Our results revealed that saccade profiles of the ADHD-CT group showed a pattern of hypermetria and altered main sequence. As the cerebellum is crucially involved in the regulation of saccade parameters, we propose that this pattern of deficit in ADHD-CT is consistent with the widely reported morphological abnormalities in ocular motor vermis (cerebellar lobules VI-VII) in ADHD-CT and ASD.
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2. Erickson SR, Spoutz P, Dorsch M, Bleske B. {{Cardiovascular risk and treatment for adults with intellectual or developmental disabilities}}. {Int J Cardiol};2016 (Oct 15);221:371-375.
BACKGROUND: People with intellectual/developmental disabilities (IDDs) face the development of cardiovascular disease (CVD) similar to the general population. The purpose of this study was to describe and compare the presence of CVD risk factors, the atherosclerotic cardiovascular (ASCVD) risk score, and medication prescribing patterns for medications to treat related risk factors for patients with IDD and those without. METHODS: This was a retrospective study of patients age 18years and older of a health system’s primary care medicine practices. The IDD group had documentation of a diagnosis related to IDD. The comparison group was a random sample of patients from the same practices who had no indication of IDD. Patient characteristics included demographics, smoking status, cholesterol, and blood pressure. The presence of a diagnosis of hypertension, hyperlipidemia, diabetes, coronary artery disease, history of stroke or myocardial infarction, and related medication therapy were documented. The dependent variable was the estimated 10-year primary risk of ASCVD. RESULTS: The IDD group included 78 patients while the GenMed group included 187. There were no significant differences in the prevalence of risk-related diagnoses or in blood pressure and cholesterol between the two groups. The estimated 10-year ASCVD risk was significantly higher in the GenMed group compared to the IDD group (p=0.02). Prescribing was similar between the groups. The regression analysis found that group assignment was not significantly associated with ASCVD risk, while age, gender, and race were. CONCLUSIONS: CV risk and related treatment among patients with IDD was similar to that of the general population.
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3. Ferron L. {{Fragile X mental retardation protein controls ion channel expression and activity}}. {J Physiol};2016 (Oct 15);594(20):5861-5867.
Fragile X-associated disorders are a family of genetic conditions resulting from the partial or complete loss of fragile X mental retardation protein (FMRP). Among these disorders is fragile X syndrome, the most common cause of inherited intellectual disability and autism. FMRP is an RNA-binding protein involved in the control of local translation, which has pleiotropic effects, in particular on synaptic function. Analysis of the brain FMRP transcriptome has revealed hundreds of potential mRNA targets encoding postsynaptic and presynaptic proteins, including a number of ion channels. FMRP has been confirmed to bind voltage-gated potassium channels (Kv 3.1 and Kv 4.2) mRNAs and regulates their expression in somatodendritic compartments of neurons. Recent studies have uncovered a number of additional roles for FMRP besides RNA regulation. FMRP was shown to directly interact with, and modulate, a number of ion channel complexes. The sodium-activated potassium (Slack) channel was the first ion channel shown to directly interact with FMRP; this interaction alters the single-channel properties of the Slack channel. FMRP was also shown to interact with the auxiliary beta4 subunit of the calcium-activated potassium (BK) channel; this interaction increases calcium-dependent activation of the BK channel. More recently, FMRP was shown to directly interact with the voltage-gated calcium channel, Cav 2.2, and reduce its trafficking to the plasma membrane. Studies performed on animal models of fragile X syndrome have revealed links between modifications of ion channel activity and changes in neuronal excitability, suggesting that these modifications could contribute to the phenotypes observed in patients with fragile X-associated disorders.
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4. Truzzi A, Setoh P, Shinohara K, Esposito G. {{Physiological responses to dyadic interactions are influenced by neurotypical adults’ levels of autistic and empathy traits}}. {Physiol Behav};2016 (Oct 15);165:7-14.
Autistic traits are distributed on a continuum that ranges from non-clinical to clinical condition. Atypical responses to social situations represent a core feature of the Autism Spectrum Disorders phenotype. Here, we hypothesize that atypical physiological responses to social stimuli may predict non-clinical autistic and empathy traits levels. We measured physiological responses (heart rate, facial temperature) of 40 adults (20F) while showing them 24 movies representing dyadic interactions. Autistic traits were assessed through Autism Quotient questionnaire (AQ), while empathy traits were measured using the Empathy Quotient questionnaire (EQ). Opposite correlations between AQ and EQ scores and physiological responses were found. Analysis of physiological responses revealed that individuals with better social abilities, low AQ and high EQ, show opposite activation patterns compared to people with high AQ and low EQ. Findings show that physiological responses could be biomarkers for people’s autistic traits and social abilities.
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5. Xiong Z, Yi L, Cao D, He W, Chen J, Gao S, Sun X. {{Dravet syndrome with autism inherited from a paternal mosaic heterozygous mutation on SCN1A}}. {J Neurol Sci};2016 (Oct 15);369:53-56.
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6. Yin J, Schaaf CP. {{Autism genetics – an overview}}. {Prenat Diagn};2016 (Oct 15)
Autism spectrum disorder (ASD) a highly heritable, clinically diverse group of neurodevelopmental disorders. Its genetic heterogeneity is remarkable, with more than 800 ASD predisposition genes identified to date. They are involved in various biological processes, including chromatin remodeling and gene transcription regulation, cell growth and proliferation, ubiquitination, and neuronal-specific processes, such as synaptic organization and activity, dendritic morphology and axonogenesis. This review aims to discuss basic autism genetics, ways to investigate ASD in model systems, highlight some key genes and their molecular pathways, and introduce novel theories of ASD pathogenesis, such as imbalance of excitatory and inhibitory brain activity, oligogenic heterozygosity, and the female protective model.
