Search Results - "Wheeler, Anne C"

Unmet clinical needs and burden in Angelman syndrome: a review of the literature by Wheeler, Anne C, Sacco, Patricia, Cabo, Raquel

“…Angelman syndrome (AS) is a rare disorder with a relatively well-defined phenotype. Despite this, very little is known regarding the unmet clinical needs and…”
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Pilot protocol for the Parent and Infant Inter(X)action Intervention (PIXI) feasibility study by Wheeler, Anne C, Okoniewski, Katherine C, Scott, Samantha, Edwards, Anne, Cheves, Emily, Turner-Brown, Lauren

“…This paper provides the detailed protocol for a pilot study testing the feasibility, acceptability, and initial efficacy of a targeted two-phase, remotely…”
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Power analysis for idiographic (within-subject) clinical trials: Implications for treatments of rare conditions and precision medicine by Tueller, Stephen, Ramirez, Derek, Cance, Jessica D., Ye, Ai, Wheeler, Anne C., Fan, Zheng, Hornik, Christoph, Ridenour, Ty A.

“…Power analysis informs a priori planning of behavioral and medical research, including for randomized clinical trials that are nomothetic (i.e., studies…”
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Skills attained by infants with congenital Zika syndrome: Pilot data from Brazil by Wheeler, Anne C, Ventura, Camila V, Ridenour, Ty, Toth, Danielle, Nobrega, Lucélia Lima, Silva de Souza Dantas, Lana Claudia, Rocha, Camilla, Bailey, Jr, Donald B, Ventura, Liana O

“…The recent Zika outbreak and its link to microcephaly and other birth defects in infants exposed in utero have garnered widespread international attention…”
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Development of Infants With Congenital Zika Syndrome: What Do We Know and What Can We Expect? by Wheeler, Anne C

“…The association between Zika virus infection during pregnancy and severe birth defects in infants has led to worldwide attention focused on the mechanisms of…”
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Supporting informed clinical trial decisions: Results from a randomized controlled trial evaluating a digital decision support tool for those with intellectual disability by McCormack, Lauren A, Wylie, Amanda, Moultrie, Rebecca, Furberg, Robert D, Wheeler, Anne C, Treiman, Katherine, Bailey, Jr, Donald B, Raspa, Melissa

“…Informed consent requires that individuals understand the nature of the study, risks and benefits of participation. Individuals with intellectual disabilities…”
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Age of diagnosis for children with chromosome 15q syndromes by Wheeler, Anne C, Gantz, Marie G, Cope, Heidi, Strong, Theresa V, Bohonowych, Jessica E, Moore, Amanda, Vogel-Farley, Vanessa

“…The objective of this study was to identify the age of diagnosis for children with one of three neurogenetic conditions resulting from changes in chromosome 15…”
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Examining Family Process among Infants and Toddlers and Implications for Maternal–Child Intervention by LaForett, Doré R., Salomon, Rebecca E., Waldrop, Julee B., Martinez, Maria, Mandel, Marcia A., Wheeler, Anne C., Okoniewski, Katherine C., Beeber, Linda S.

“…This article examined the associations between family processes and children’s development among mothers and their children participating in early intervention…”
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Sensory Difficulties in Children With an FMR1 Premutation by Raspa, Melissa, Wylie, Amanda, Wheeler, Anne C, Kolacz, Jacek, Edwards, Anne, Heilman, Keri, Porges, Stephen W

“…Abnormal sensory processing is one of the core characteristics of the fragile X phenotype. Studies of young children with fragile X syndrome (FXS) and the FMR1…”
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Early Check: translational science at the intersection of public health and newborn screening by Bailey, Jr, Donald B, Gehtland, Lisa M, Lewis, Megan A, Peay, Holly, Raspa, Melissa, Shone, Scott M, Taylor, Jennifer L, Wheeler, Anne C, Cotten, Michael, King, Nancy M P, Powell, Cynthia M, Biesecker, Barbara, Bishop, Christine E, Boyea, Beth Lincoln, Duparc, Martin, Harper, Blake A, Kemper, Alex R, Lee, Stacey N, Moultrie, Rebecca, Okoniewski, Katherine C, Paquin, Ryan S, Pettit, Denise, Porter, Katherine Ackerman, Zimmerman, Scott J

“…Newborn screening (NBS) occupies a unique space at the intersection of translational science and public health. As the only truly population-based public…”
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Enabling endpoint development for interventional clinical trials in individuals with Angelman syndrome: a prospective, longitudinal, observational clinical study (FREESIAS) by Tjeertes, Jorrit, Bacino, Carlos A, Bichell, Terry Jo, Bird, Lynne M, Bustamante, Mariana, Crean, Rebecca, Jeste, Shafali, Komorowski, Robert W, Krishnan, Michelle L, Miller, Meghan T, Nobbs, David, Ochoa-Lubinoff, Cesar, Parkerson, Kimberly A, Rotenberg, Alexander, Sadhwani, Anjali, Shen, Mark D, Squassante, Lisa, Tan, Wen-Hann, Vincenzi, Brenda, Wheeler, Anne C, Hipp, Joerg F, Berry-Kravis, Elizabeth

“…Angelman syndrome (AS) is a rare neurodevelopmental disorder characterized by the absence of a functional UBE3A gene, which causes developmental, behavioral,…”
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The Multiple Odysseys in Research and Clinical Care for Neurogenetic Conditions by Wheeler, Anne C

“…Neurogenetic conditions (NGC; e.g., fragile X, Angelman, Prader-Willi syndromes) represent the cause for intellectual or developmental disabilities in up to…”
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Outreach to new mothers through direct mail and email: recruitment in the Early Check research study by Paquin, Ryan S., Lewis, Megan A., Harper, Blake A., Moultrie, Rebecca R., Gwaltney, Angela, Gehtland, Lisa M., Peay, Holly L., Duparc, Martin, Raspa, Melissa, Wheeler, Anne C., Powell, Cynthia M., King, Nancy M. P., Shone, Scott M., Bailey, Donald B.

“…Meeting recruitment targets for clinical trials and health research studies is a notable challenge. Unsuccessful efforts to recruit participants from…”
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Public Health Literature Review of Fragile X Syndrome by Raspa, Melissa, Wheeler, Anne C, Riley, Catharine

“…The purpose of this systematic literature review is to describe what is known about fragile X syndrome (FXS) and to identify research gaps. The results can be…”
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Mindfulness and Acceptance as Potential Protective Factors for Mothers of Children With Fragile X Syndrome by Wheeler, Anne C, Miller, Shari, Wylie, Amanda, Edwards, Anne

“…Women with an premutation may be at increased genetic risk for stress vulnerability. This increased vulnerability, when combined with stressful parenting that…”
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A Voluntary Statewide Newborn Screening Pilot for Spinal Muscular Atrophy: Results from Early Check by Kucera, Katerina S, Taylor, Jennifer L, Robles, Veronica R, Clinard, Kristin, Migliore, Brooke, Boyea, Beth Lincoln, Okoniewski, Katherine C, Duparc, Martin, Rehder, Catherine W, Shone, Scott M, Fan, Zheng, Raspa, Melissa, Peay, Holly L, Wheeler, Anne C, Powell, Cynthia M, Bailey, Jr, Donald B, Gehtland, Lisa M

“…Prior to statewide newborn screening (NBS) for spinal muscular atrophy (SMA) in North Carolina, U.S.A., we offered voluntary screening through the Early Check…”
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Early Identification of Fragile X Syndrome through Expanded Newborn Screening by Okoniewski, Katherine C, Wheeler, Anne C, Lee, Stacey, Boyea, Beth, Raspa, Melissa, Taylor, Jennifer L, Bailey, Jr, Donald B

“…Over the past 20 years, research on fragile X syndrome (FXS) has provided foundational understanding of the complex experiences of affected individuals and…”
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Specificity of Early Childhood Hyperphagia Profiles in Neurogenetic Conditions by Andrews, Sara M, Panjwani, Anita A, Potter, Sarah Nelson, Hamrick, Lisa R, Wheeler, Anne C, Kelleher, Bridgette L

“…Hyperphagia is highly penetrant in Prader-Willi syndrome (PWS) and has increasingly been reported in other neurogenetic conditions (NGC). The Hyperphagia…”
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Emergence of Developmental Delay in Infants and Toddlers With an FMR1 Mutation by Wheeler, Anne C, Gwaltney, Angela, Raspa, Melissa, Okoniewski, Katherine C, Berry-Kravis, Elizabeth, Botteron, Kelly N, Budimirovic, Dejan, Hazlett, Heather Cody, Hessl, David, Losh, Molly, Martin, Gary E, Rivera, Susan M, Roberts, Jane E, Bailey, Jr, Donald B

“…Children with gene expansions are known to experience a range of developmental challenges, including fragile X syndrome. However, little is known about early…”
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Feeding practices and weight status of children with congenital Zika syndrome: A longitudinal study in Brazil by Frawley, Hannah E, Andrews, Sara M, Wheeler, Anne C, Nobrega, Lucélia L, Firmino, Raine C B, da Silva, Claudia M, Bezerra, Pollyanna, Ventura, Camila V, Cavalcanti, Andre, Williams, Jason, Flax, Valerie L

“…The objective of this study was to describe feeding practices and weight status in a cohort of children with congenital Zika syndrome (CZS) in northeastern…”
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