Developmental divergence: motor trajectories in children with fragile X syndrome with and without co-occurring autism.

BackgroundAutism spectrum disorder (ASD) is highly prevalent in fragile X syndrome (FXS), affecting 50-70% of males. Motor impairments are a shared feature across autism and FXS that may help to better characterize autism in FXS. As motor skills provide a critical foundation for various language, cognitive, and social outcomes, they may serve an important mechanistic role for autism in FXS. As such, this study aimed to identify differences in motor trajectories across direct assessment and parent-report measures of fine and gross motor development between FXS with and without autism, and typical development, while controlling for cognitive functioning.MethodsThis prospective longitudinal study included 42 children with FXS, 24 of whom also had ASD (FXS + ASD), as well as 40 typically developing children. The Mullen Scales of Early Learning provided a direct measure of fine and gross motor skills, and the Vineland Adaptive Behavior Scales provided a measure of parent-reported fine and gross motor skills. Random slopes and random intercepts multilevel models were tested to determine divergence in developmental motor trajectories between groups when controlling for cognitive level.ResultsModel results indicated the children with FXS + ASD diverged from TD children by 9-months on all measures of gross and fine motor skills, even when controlling for cognitive level. Results also indicated an early divergence in motor trajectories of fine and gross motor skills between the FXS + ASD and FXS groups when controlling for cognitive level. This divergence was statistically significant by 18 months, with the FXS + ASD showing decelerated growth in motor skills across direct observation and parent-report measures.ConclusionsThis study is the first to examine longitudinal trends in motor development in children with FXS with and without comorbid ASD using both direct assessment and parent-report measures of fine and gross motor. Furthermore, it is among the first to account for nonverbal cognitive delays, a step towards elucidating the isolated role of motor impairments in FXS with and without ASD. Findings underscore the role of motor impairments as a possible signal representing greater underlying genetic liability, or as a potential catalyst or consequence, of co-occurring autism in FXS

Maine Newspaper Project Advisory Board Memo

Photocopy of a memo [email] from Jane E. Roberts of the Maine State Libary to the Maine Newspaper Project Advisory Board with updates on the project. The memo mentions preparing print holdings of Le Messager for transfer to microfilm.https://digitalcommons.usm.maine.edu/le-messager/1050/thumbnail.jp

Negative affect and respiratory sinus arrhythmia are differentially related to social anxiety and autism features in autistic preschoolers contrasted to fragile X syndrome

IntroductionAutism spectrum disorder (ASD) is a highly heterogeneous and complex disorder with co-occurring disorders commonplace. This presents tremendous diagnostic challenges given the phenotypic overlap between autism and other diagnoses, including social anxiety, as well as variance in specific genetic disorders like fragile X syndrome (FXS). Biobehavioral measurement approaches integrate behavioral and biological data, and by so doing have the potential to address diagnostic challenges and shed light on the mechanisms underlying social impairments.MethodsThe present study utilized a biobehavioral approach to evaluate how biologically based indices of baseline respiratory sinus arrhythmia (RSA) and temperamental negative affect differ and predict autism and anxiety in a sample of 120 preschoolers with non-syndromic autism (nsASD) with co-occurring intellectual impairment, FXS, and neurotypical (NT) development.ResultsResults indicated that children with nsASD display elevated negative affect compared to both FXS and NT controls which did not differ from each other and females exhibited more negative affect relative to males. Interestingly, elevated negative affect predicted social anxiety, but not ASD in FXS. Baseline RSA did not differ across the groups; however, reduced RSA predicted elevated autism severity for the nsASD group but not those with FXS or NT development.DiscussionTaken together, biobehavioral markers differentiated the groups in discrete ways that advance our understanding of autism and promote improved diagnostic clarity using objective measurement

Heart Rate-Defined Sustained Attention in Infants at Risk for Autism

Background: Although aberrant visual attention has been identified in infants at high familial risk for autism, the developmental emergence of atypical attention remains unclear. Integrating biological measures of attention into prospective high-risk infant studies may inform more nuanced developmental trajectories, clarifying the onset and course of atypical attention and potentially advancing early screening or treatment protocols. Heart rate-defined sustained attention (HRDSA) is a well-validated biological measure of attentional engagement that, in non-clinical infant populations, provides incremental information about attentional engagement beyond looking behaviors alone. The present study aimed to examine the characteristics and clinical correlates of HRDSA in high-risk infants, informing whether HRDSA may operate as a promising biological measure of attention and clinical symptoms in this population. Methods: We examined age-related patterns of HRDSA during a passive looking task in 5- to 14-month-old high-risk infant siblings of children with autism (n = 21) compared to low-risk controls (n = 21), with most participants contributing multiple assessments. Emergent autism features were measured using the Autism Diagnostic Observation Schedule at 24 months. Primary dependent variables included the proportion of time in behavioral attention, proportion of time in HRDSA, and average heart rate deceleration during HRDSA. For each variable, we used nested multilevel models to examine whether attention differed by group, as well as whether attention predicted emergent autism features among high-risk infant siblings. Results: As expected, HRDSA served as a global biological measure of attention in high-risk infants, predicting greater variability in group risk status than behavioral looking alone. Among high-risk infants, more severe ASD features were also associated with increasingly shallow heart rate deceleration during HRDSA across development, suggesting abnormal qualities of HRDSA may inform individual differences within this population. Conclusions: These preliminary findings provide initial evidence that HRDSA may offer a sensitive, affordable, and portable biological measure of attention that may enhance understanding of atypical attention in high-risk infants. Using this method, we also provide initial evidence that atypical patterns of heart activity previously reported in children and adults with autism may emerge in the first year of life, warranting further study of how HRDSA may specifically inform attention profiles in ASD

Treatment effects of stimulant medication in young boys with fragile X syndrome

Fragile X syndrome (FXS) is the most common inherited form of intellectual disability and is caused by a CGG repeat expansion at Xq27.3 on the FMR1 gene. The majority of young boys with FXS display poor attention and hyperactivity that is disproportionate to their cognitive disability, and approximately 70% meet diagnostic criteria for attention-deficit/hyperactivity disorder. Psychopharmacology is employed with 82% of young males 5–17 years of age, with stimulant medication as the most common medication prescribed. This study evaluated the effects of stimulant medication on the academic performance, attention, motor activity, and psychophysiological arousal of boys with FXS, as well as the concordance of effects within individuals. Participants in this study included 12 boys with FXS who were treated with stimulants. Participants completed videotaped academic testing on two consecutive days and were randomly assigned to be off stimulants for 1 day and on stimulants the other day. On each day, multiple measures including academic performance, behavior regulation, and psychophysiological arousal were collected. Approximately 75% of participants performed better on attention and academic measures, and 70% showed improved physiological regulation while on stimulant medication. A high degree of concordance among measures was found. Lower intelligence quotient (IQ), but not age, correlated with greater improvements in in-seat behavior. IQ and age did not relate to on-task behaviors. The frequency and magnitude of response to stimulant medication in boys with FXS is higher than those reported for most children with non-specific intellectual disabilities and autism spectrum disorder

Physician nutrition and cognition during work hours: effect of a nutrition based intervention

<p>Abstract</p> <p>Background</p> <p>Physicians are often unable to eat and drink properly during their work day. Nutrition has been linked to cognition. We aimed to examine the effect of a nutrition based intervention, that of scheduled nutrition breaks during the work day, upon physician cognition, glucose, and hypoglycemic symptoms.</p> <p>Methods</p> <p>A volunteer sample of twenty staff physicians from a large urban teaching hospital were recruited from the doctors' lounge. During both the baseline and the intervention day, we measured subjects' cognitive function, capillary blood glucose, "hypoglycemic" nutrition-related symptoms, fluid and nutrient intake, level of physical activity, weight, and urinary output.</p> <p>Results</p> <p>Cognition scores as measured by a composite score of speed and accuracy (Tput statistic) were superior on the intervention day on simple (220 vs. 209, p = 0.01) and complex (92 vs. 85, p < 0.001) reaction time tests. Group mean glucose was 0.3 mmol/L lower (p = 0.03) and less variable (coefficient of variation 12.2% vs. 18.0%) on the intervention day. Although not statistically significant, there was also a trend toward the reporting of fewer hypoglycemic type symptoms. There was higher nutrient intake on intervention versus baseline days as measured by mean caloric intake (1345 vs. 935 kilocalories, p = 0.008), and improved hydration as measured by mean change in body mass (+352 vs. -364 grams, p < 0.001).</p> <p>Conclusions</p> <p>Our study provides evidence in support of adequate workplace nutrition as a contributor to improved physician cognition, adding to the body of research suggesting that physician wellness may ultimately benefit not only the physicians themselves but also their patients and the health care systems in which they work.</p

Patient and Provider Perspectives on Medication Non-adherence Among Patients with Depression and/or Diabetes in Diverse Community Settings - A Qualitative Analysis.

BACKGROUND: Diabetes and depression affect a significant percentage of the world\u27s total population, and the management of these conditions is critical for reducing the global burden of disease. Medication adherence is crucial for improving diabetes and depression outcomes, and research is needed to elucidate barriers to medication adherence, including the intentionality of non-adherence, to intervene effectively. The purpose of this study was to explore the perspectives of patients and health care providers on intentional and unintentional medication adherence among patients with depression and diabetes through a series of focus groups conducted across clinical settings in a large urban area. METHODS: This qualitative study utilized a grounded theory approach to thematically analyze qualitative data using the framework method. Four focus groups in total were conducted, two with patients and two with providers, over a one-year period using a semi-structured facilitation instrument containing open-ended questions about experiences, perceptions and beliefs about medication adherence. RESULTS: Across the focus groups, communication difficulties between patients and providers resulting in medication non-adherence was a primary theme that emerged. Concerns about medication side effects and beliefs about medication effectiveness were identified as perceptual barriers related to intentional medication non-adherence. Practical barriers to medication adherence, including medication costs, forgetting to take medications and polypharmacy, emerged as themes related to unintentional medication non-adherence. CONCLUSION: The study findings contribute to a growing body of research suggesting health system changes are needed to improve provider education and implement multicomponent interventions to improve medication adherence among patients with depression and/or diabetes, both chronic illnesses accounting for significant disease burden globally

Neural Correlates of Face Processing in Etiologically-Distinct 12-Month-Old Infants at High-Risk of Autism Spectrum Disorder

Neural correlates of face processing were examined in 12-month-olds at high-risk for autism spectrum disorder (ASD), including 21 siblings of children with ASD (ASIBs) and 15 infants with fragile X syndrome (FXS), as well as 21 low-risk (LR) controls. Event-related potentials were recorded to familiar and novel face and toy stimuli. All infants demonstrated greater N290 amplitude to faces than toys. At the Nc component, LR infants showed greater amplitude to novel stimuli than to their mother’s face and own toy, whereas infants with FXS showed the opposite pattern of responses and ASIBs did not differentiate based on familiarity. These results reflect developing face specialization across high- and low-risk infants and reveal neural patterns that distinguish between groups at high-risk for ASD

Reading and Phonological Skills in Boys with Fragile X Syndrome

Reading skills are critical for the success of individuals with intellectual disabilities. Literacy has received little attention in fragile X syndrome (FXS), the most common inherited cause of intellectual impairment. This study examined the literacy profile of FXS and tested phonological awareness and autism spectrum disorder (ASD) symptoms as predictors of literacy

A Novel Eye Tracking Paradigm for Indexing Social Avoidance-Related Behavior in Fragile X Syndrome

Fragile X syndrome (FXS) is characterized by hallmark features of gaze avoidance, reduced social approach, and social anxiety. The development of therapeutics to manage these symptoms has been hindered, in part, by the lack of sensitive outcome measures. This study investigated the utility of a novel eye tracking paradigm for indexing social avoidance-related phenotypes. Adolescent/young adult-aged males with FXS (n=24) and typical development (n=23) participated in the study. Participants viewed faces displaying direct or averted gaze and the first fixation duration on the eyes was recorded as an index of initial stimulus registration. Fixation durations did not differ across the direction of gaze conditions in either group, although the control group showed longer initial fixations on the eyes relative to the FXS group. Shorter initial fixation on averted gaze in males with FXS was a robust predictor of the severity of their social avoidance behavior exhibited during a social greeting context, whereas parent-reported social avoidance symptoms was not related to performance in the semi-naturalistic context. This eye tracking paradigm may represent a promising outcome measure for FXS clinical trials because it provides a quantitative index that closely maps onto core social avoidance phenotypes of FXS, can be completed in less than 20 minutes, and is suitable for use with individuals with low IQ