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Metropolitan Government of Nashville-Davidson (balance), TN, United States

Goldman S.E.,Vanderbilt University | Bichell T.J.,Vanderbilt Kennedy Center for Research on Human Development | Surdyka K.,Vanderbilt University | Malow B.A.,Vanderbilt University
Journal of Intellectual Disability Research

Background Sleep concerns are common in children with Angelman syndrome, with 20-80% of individuals having a decreased sleep need and/or abnormal sleep-wake cycles. The impact of these sleep behaviours on parental sleep and stress is not known. Method Through the use of standardised questionnaires, wrist actigraphy and polysomnography, we defined the sleep behaviours of 15 children/adolescents with Angelman syndrome and the association of the child/adolescents sleep behaviours on parental sleep behaviours and parental stress. Results Both children/adolescents and their parents exhibited over 1h of wake time after sleep onset and fragmented sleep. Prolonged sleep latency in the child was associated with parent insomnia and daytime sleepiness. Additionally, variability in child total sleep time was associated with parental stress. Conclusions Poor sleep in children/adolescents with Angelman syndrome was associated with poor parental sleep and higher parental stress. Further work is warranted to identify the underlying causes of the poor sleep, and to relate these findings to daytime functioning, behaviour and the family unit. © 2011 Blackwell Publishing Ltd. Source

Dykens E.M.,Vanderbilt Kennedy Center for Research on Human Development | Dykens E.M.,Vanderbilt University
Developmental Disabilities Research Reviews

This review highlights several methodological challenges involved in research on aging, health, and mortality in adults with rare intellectual disability syndromes. Few studies have been performed in this area, with research obstacles that include: the ascertainment of older adults with genetic versus clinical diagnoses; likelihood that adults will not receive adequate health care and referrals to genetic specialists; cohort differences related to generational and treatment effects; and increased mortality and selective survival biases. Even so, aging in Prader-Willi and Williams syndromes are reviewed as they reveal new insights into the phenotypic expression and treatment options for older adults with these disorders. The review ends with recommendations for future research that takes better advantage of genetic advances, changes in adult phenotypes, and ties across syndrome-specific research silos. Although aging in rare neurodevelopmental disorders is barely on the research landscape, the field stands to learn much from these older adults. © 2013 Wiley Periodicals, Inc. Source

Dengler-Crish C.M.,Vanderbilt Kennedy Center for Research on Human Development | Horst S.N.,Vanderbilt University | Walker L.S.,Vanderbilt University
Journal of Pediatric Gastroenterology and Nutrition

Objectives: Nongastrointestinal (non-GI) somatic complaints are common in children and adults with functional gastrointestinal disorders (FGIDs). The aim of the present study was to determine whether non-GI somatic complaints in children with functional abdominal pain (FAP) were associated with FGIDs in adolescence and young adulthood. Patients and Methods: In a prospective clinic-based study, children and adolescents (ages 8-16 years) with FAP (n = 188) and well controls (n = 61) completed a validated measure of somatic symptoms. Participants were assessed 4 to 15 years later (as older adolescents and young adults) for presence of current FGIDs as defined by the Rome III criteria. Results: Of the 188 youths with pediatric FAP, 35.6% met criteria for FGIDs at follow-up. Initial levels of non-GI somatic symptoms were significantly higher in pediatric FAP participants who subsequently met criteria for FGIDs at follow-up compared with controls and pediatric FAP participants who did not meet criteria for FGIDs at follow-up. Conclusions: The association of non-GI somatic symptoms with FAP in children may identify a group that is at risk for FGIDs later in life. Copyright © 2011 by European Society for Pediatric Gastroenterology. Source

Cascio C.J.,Vanderbilt University | Cascio C.J.,Vanderbilt Kennedy Center for Research on Human Development | Moana-Filho E.J.,University of North Carolina at Chapel Hill | Guest S.,University of North Carolina at Chapel Hill | And 4 more authors.
Autism Research

Autism spectrum disorders (ASD) are associated with differences in sensory sensitivity and affective response to sensory stimuli, the neural basis of which is still largely unknown. We used psychophysics and functional magnetic resonance imaging (fMRI) to investigate responses to somatosensory stimulation with three textured surfaces that spanned a range of roughness and pleasantness in a sample of adults with ASD and a control group. While psychophysical ratings of roughness and pleasantness were largely similar across the two groups, the ASD group gave pleasant and unpleasant textures more extreme average ratings than did controls. In addition, their ratings for a neutral texture were more variable than controls, indicating they are less consistent in evaluating a stimulus that is affectively ambiguous. Changes in brain blood oxygenation level-dependent (BOLD) signal in response to stimulation with these textures differed substantially between the groups, with the ASD group exhibiting diminished responses compared to the control group, particularly for pleasant and neutral textures. For the most unpleasant texture, the ASD group exhibited greater BOLD response than controls in affective somatosensory processing areas such as the posterior cingulate cortex and the insula. The amplitude of response in the insula in response to the unpleasant texture was positively correlated with social impairment as measured by the Autism Diagnostic Interview-Revised (ADI-R). These results suggest that people with ASD tend to show diminished response to pleasant and neutral stimuli, and exaggerated limbic responses to unpleasant stimuli, which may contribute to diminished social reward associated with touch, perpetuating social withdrawal, and aberrant social development. © 2012 International Society for Autism Research, Wiley Periodicals, Inc. Source

Broussard J.A.,Vanderbilt Kennedy Center for Research on Human Development | Lin W.-H.,Vanderbilt Kennedy Center for Research on Human Development | Majumdar D.,Vanderbilt Kennedy Center for Research on Human Development | Anderson B.,Vanderbilt Kennedy Center for Research on Human Development | And 4 more authors.
Molecular Biology of the Cell

Cell migration is a complex process that requires the integration of signaling events that occur in distinct locations within the cell. Adaptor proteins, which can localize to different subcellular compartments, where they bring together key signaling proteins, are emerging as attractive candidates for controlling spatially coordinated processes. However, their function in regulating cell migration is not well understood. In this study, we demonstrate a novel role for the adaptor protein containing a pleckstrin-homology (PH) domain, phosphotyrosine-binding (PTB) domain, and leucine zipper motif 1 (APPL1) in regulating cell migration. APPL1 impairs migration by hindering the turnover of adhesions at the leading edge of cells. The mechanism by which APPL1 regulates migration and adhesion dynamics is by inhibiting the activity of the serine/threonine kinase Akt at the cell edge and within adhesions. In addition, APPL1 significantly decreases the tyrosine phosphorylation of Akt by the nonreceptor tyrosine kinase Src, which is critical for Akt-mediated cell migration. Thus, our results demonstrate an important new function for APPL1 in regulating cell migration and adhesion turnover through a mechanism that depends on Src and Akt. Moreover, our data further underscore the importance of adaptor proteins in modulating the flow of information through signaling pathways. © 2012 Broussard et al. Source

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