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News Article | October 26, 2016
Site: www.eurekalert.org

(Cincinnati, OH) The International Rett Syndrome Foundation now doing business as Rettsyndrome.org, is launching an innovative clinic program, designating 14 clinics in the United States as Rett Syndrome Clinical Research Centers of Excellence, it announced today. At the heart of these Clinical Research Centers of Excellence, is a team of specialists with substantial experience in the diagnostic evaluation, and treatment of individuals with Rett syndrome. Critical to these centers is the fact that they partner with families and community healthcare providers to deliver care that is comprehensive and appropriate for a family's individual needs. Physician specialists, nurses, therapists, and care managers all support the individuals' care management and coordination. In addition, these clinics are dedicated to streamlining care delivery. Rettsyndrome.org's Chief Science Officer, Steve Kaminsky, PhD comments on the clinic centers of excellence designation, "As a rare disease, the Rett community is fortunate to have these 14 Clinical Research Centers of Excellence. The clinicians, nurses and the medical team are deeply committed to the care of individuals with Rett syndrome, while being heavily involved in clinical research through the Rett Consortium and the Natural History Study. These clinics understand our mission and make it possible accelerate research and empower families." 1. Alabama - University of Alabama Birmingham Civitan International Research Center, Birmingham2. California - University of California San Diego, Rady Children's Hospital, San Diego3. California - University of California San Francisco Benioff Children's Hospital Oakland, Walnut Creek4. Colorado - Children's Hospital Colorado, Aurora5. Illinois - Rush University Medical Center, Chicago6. Massachusetts - Boston Children's Hospital and Harvard Medical School7. Minnesota - Gillette Children's Specialty Healthcare, Saint Paul8. Missouri - Washington University School of Medicine Saint Louis Children's Hospital, Saint Louis9. New York - University of Rochester Medical Center, Rochester10. Ohio - Cincinnati Children's Hospital Medical Center, Cincinnati11. Pennsylvania - Children's Hospital of Philadelphia, Philadelphia12. South Carolina - Greenwood Genetic Center, Greenwood13. Tennessee - Vanderbilt University School of Medicine and Vanderbilt Kennedy Center for Research on Human Development, Nashville14. Texas - Texas Children's Hospital, The Blue Bird Circle Rett Center, Houston Rettsyndrome.org is the most comprehensive nonprofit organization dedicated to accelerating research of treatments and a cure for Rett syndrome to accelerate full spectrum research to treat and cure Rett syndrome while empowering the community through knowledge and connectivity. As the world's leading private funder of Rett syndrome research, Rettsyndrome.org has funded over $38M in high-quality, peer-reviewed research grants and programs to date. The organization hosts the largest global gathering of Rett researchers and clinicians to establish research direction for the future. Rettsyndrome.org, a 501(c)3 organization, has earned Charity Navigator's most prestigious 4 star rating year after year. To learn more about our work and Rett syndrome, visit http://www. or call (800) 818-7388 (RETT).


Dengler-Crish C.M.,Vanderbilt University | Bruehl S.,Vanderbilt Kennedy Center for Research on Human Development | Bruehl S.,Vanderbilt University | Walker L.S.,Vanderbilt University | Walker L.S.,Vanderbilt Childrens Hospital
Pain | Year: 2011

Idiopathic or functional abdominal pain (FAP) is common in school-age children and typically reflects a functional gastrointestinal disorder (FGID). FGIDs in adults have been distinguished by enhanced responses of the central nervous system to pain stimuli, known as central sensitization. This study investigated whether adolescents and young adults with a history of pediatric FAP (n = 144), compared with well control subjects (n = 78), showed enhanced central sensitization demonstrated by greater temporal summation (wind-up) to brief, repetitive heat pulses. We also assessed the role of gender and trait anxiety in wind-up to heat pain. Women with a history of FAP showed greater wind-up to heat pain than men with a history of FAP (P < .05) and well control subjects of both genders (P < .05). Results were similar for FAP participants whose abdominal pain was ongoing at follow-up and those whose pain had resolved. Although anxiety was significantly higher in the FAP group compared with control subjects (P < .01) and in women compared with men (P < .05), anxiety did not explain the increased wind-up observed in women with a childhood history of FAP. Results suggest that women with a pediatric history of FAP may have a long-term vulnerability to pain associated with enhanced central nervous system responses to pain stimuli. Young women with a childhood history of functional abdominal pain may have a long-term vulnerability to pain that is associated with enhanced responses of the central nervous system to pain stimuli. © 2010 International Association for the Study of Pain. Published by Elsevier B.V. All rights reserved.


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 | Year: 2012

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.


Sherman A.L.,Vanderbilt University | Bruehl S.,Vanderbilt University | Smith C.A.,Vanderbilt University | Walker L.S.,Vanderbilt Kennedy Center for Research on Human Development | Walker L.S.,Vanderbilt University
Journal of Pediatric Psychology | Year: 2013

Objective To evaluate effects of mothers' and fathers' chronic pain on health outcomes in adult sons and daughters with a childhood history of functional abdominal pain (FAP). Method Adults (n = 319; Mean age = 22.09 years) with a childhood history of FAP reported parental history of chronic pain and their own current health (chronic pain, somatic symptoms, disability, use of medication and health care, illness-related job loss). Results Positive histories of maternal and paternal chronic pain were each associated with poorer health in sons and daughters, regardless of child or parent gender. Having 2 parents with chronic pain was associated with significantly poorer health than having 1 or neither parent with chronic pain. Conclusions Chronic pain in both mothers and fathers is associated with poor health and elevated health service use in young adults with a childhood history of FAP. Having both parents with chronic pain increases risk for adverse outcomes. © 2013 The Author 2013. Published by Oxford University Press on behalf of the Society of Pediatric Psychology. All rights reserved.


Dykens E.M.,Vanderbilt Kennedy Center for Research on Human Development | Dykens E.M.,Vanderbilt University
Developmental Disabilities Research Reviews | Year: 2013

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.


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 | Year: 2011

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.


Peters S.U.,Vanderbilt University | Gordon R.L.,Vanderbilt Kennedy Center for Research on Human Development | Key A.P.,Vanderbilt Kennedy Center for Research on Human Development | Key A.P.,Vanderbilt University
Journal of Child Neurology | Year: 2015

Normal levels of the methyl CpG-binding protein 2 (MeCP2) are critical to neurologic functioning, and slight alterations result in intellectual disability and autistic features. It was hypothesized that children with MECP2 duplication (overexpression of MeCP2) and Rett syndrome (underexpression of MeCP2) would exhibit distinct electroencephalographic (EEG) indices of auditory stimulus discrimination. In this study, gamma-band oscillatory responses to familiar and novel voices were examined and related to social functioning in 17 children (3-11 years old) with MECP2 duplication (n = 12) and Rett syndrome (n = 5). Relative to the stranger's voice, gamma activity in response to the mother's voice was increased in MECP2 duplication but decreased in Rett syndrome. In MECP2 duplication, greater mother versus stranger differences in gamma activity were associated with higher social functioning. For the first time, brain responses in a passive voice discrimination paradigm show that overexpression and underexpression of MeCP2 have differential effects on cortical information processing. © The Author(s) 2014.


Walker L.S.,Vanderbilt University | Sherman A.L.,Vanderbilt University | Bruehl S.,Vanderbilt Kennedy Center for Research on Human Development | Bruehl S.,Vanderbilt University | And 4 more authors.
Pain | Year: 2012

Although pediatric functional abdominal pain (FAP) has been linked to abdominal pain later in life, childhood predictors of long-term outcomes have not been identified. This study evaluated whether distinct FAP profiles based on patterns of pain and adaptation in childhood could be identified and whether these profiles predicted differences in clinical outcomes and central sensitization (wind-up) on average 9 years later. In 843 pediatric FAP patients, cluster analysis was used to identify subgroups at initial FAP evaluation based on profiles of pain severity, gastrointestinal (GI) and non-GI symptoms, pain threat appraisal, pain coping efficacy, catastrophizing, negative affect, and activity impairment. Three profiles were identified: high pain dysfunctional, high pain adaptive, and low pain adaptive. Logistic regression analyses controlling for age and sex showed that, compared with pediatric patients with the low pain adaptive profile, those with the high pain dysfunctional profile were significantly more likely at long-term follow-up to meet criteria for pain-related functional gastrointestinal disorder (FGID) (odds ratio: 3.45, confidence interval: 1.95 to 6.11), FGID with comorbid nonabdominal chronic pain (odds ratio: 2.6, confidence interval: 1.45 to 4.66), and FGID with comorbid anxiety or depressive psychiatric disorder (odds ratio: 2.84, confidence interval: 1.35 to 6.00). Pediatric patients with the high pain adaptive profile had baseline pain severity comparable to that of the high pain dysfunctional profile, but had outcomes as favorable as the low pain adaptive profile. In laboratory pain testing at follow-up, high pain dysfunctional patients showed significantly greater thermal wind-up than low pain adaptive patients, suggesting that a subgroup of FAP patients has outcomes consistent with widespread effects of heightened central sensitization. © 2012 International Association for the Study of Pain. Published by Elsevier B.V. All rights reserved.


Key A.P.,Vanderbilt Kennedy Center for Research on Human Development | Key A.P.,Vanderbilt University | Dykens E.M.,Vanderbilt Kennedy Center for Research on Human Development
Neurobiology of Aging | Year: 2014

A major goal of aging research is to identify early markers of age-related cognitive decline. Persons with Down syndrome (DS) experience accelerated aging and high risks for dementia, making them a valuable albeit understudied model for testing such markers. This study examined event-related potential (ERP) indices of visual memory in younger (19-25 years) and older (35-40 years) adults with DS using a passive viewing paradigm that did not require memorization or behavioral responses. ERPs were recorded in response to unfamiliar urban and nature scenes, with some images presented once and others repeated multiple times. Within 600 to 900 milliseconds after stimulus onset, repeated stimuli elicited more positive amplitudes in younger participants, indicating stimilus recognition. ERPs of older adults did not show such increases, suggesting reduced memory functioning. ERP indices were unrelated to participants' intellectual functioning, but did correlate with age and caregiver-reported lethargy/withdrawal behaviors. Passive ERP measures of memory processes are sensitive to early stages of cognitive decline in DS and are promising markers of cognitive risk for future aging studies. © 2014 Elsevier Inc.


PubMed | Vanderbilt University and Vanderbilt Kennedy Center for Research on Human Development
Type: Journal Article | Journal: Journal of child neurology | Year: 2015

Normal levels of the methyl CpG-binding protein 2 (MeCP2) are critical to neurologic functioning, and slight alterations result in intellectual disability and autistic features. It was hypothesized that children with MECP2 duplication (overexpression of MeCP2) and Rett syndrome (underexpression of MeCP2) would exhibit distinct electroencephalographic (EEG) indices of auditory stimulus discrimination. In this study, gamma-band oscillatory responses to familiar and novel voices were examined and related to social functioning in 17 children (3-11 years old) with MECP2 duplication (n = 12) and Rett syndrome (n = 5). Relative to the strangers voice, gamma activity in response to the mothers voice was increased in MECP2 duplication but decreased in Rett syndrome. In MECP2 duplication, greater mother versus stranger differences in gamma activity were associated with higher social functioning. For the first time, brain responses in a passive voice discrimination paradigm show that overexpression and underexpression of MeCP2 have differential effects on cortical information processing.

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