88 results on '"Melissa Raspa"'
Search Results
2. Parental coping with uncertainties along the severe combined immunodeficiency journey
- Author
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Oksana Kutsa, Sara M. Andrews, Erin Mallonee, Angela Gwaltney, Alissa Creamer, Paul K. J. Han, Melissa Raspa, and Barbara B. Biesecker
- Subjects
Severe combined immunodeficiency ,Coping with uncertainties ,Adaptation ,Rare genetic diseases ,Medicine - Abstract
Abstract Background Severe combined immunodeficiency (SCID) is a group of rare genetic disorders that cause disruption in immune system functioning. Parents of children with SCID experience many uncertainties related to their child’s diagnosis, treatment, recovery, and quality of life. To fully understand parents’ experiences throughout their SCID journey, it is important to explore the stressors generated by such uncertainties and how parents cope with these stressors. Methods We conducted 26 in-depth interviews with parents whose child was diagnosed with SCID or a SCID-like condition through newborn screening. The interviews explored uncertainties related to their child’s diagnosis and how parents coped with these uncertainties. Transcripts were generated from the interviews and analyzed using an inductive content analysis approach which included data immersion, generation and assignment of codes, and interpretation. Results Parents used a variety of behavioral, cognitive, and affective coping strategies which evolved throughout their SCID journeys. Some parents reported coping by playing an active role in their child’s treatment, which included reaching out to other SCID parents or seeking second medical opinions. Other types of coping included establishing house hygiene rules, thinking positively about the child’s treatment progress, and relying on family members for help. These coping strategies were both deliberate and intuitive. Participants also described their struggles in coping with stressors related to their child’s health and survival. They reported difficulty in processing their emotions and experiencing denial and guilt related to their child’s diagnosis. Some parents adapted to ongoing uncertainties through such strategies as positive thinking, self-reflection, and relying on family and community. With successful adaptation, parents emphasized that they continue to use these strategies today. Conclusion Our assessment revealed that parents of children diagnosed with SCID use a variety of behavioral, cognitive, and affective approaches to cope with SCID uncertainties. Although parents reported challenges in coping with SCID uncertainties, they also reported finding ways to overcome these stressors and establish patterns of effective coping. Findings from our study can serve as a guide for parents whose child was newly diagnosed with SCID and for providers such as social workers, genetic counselors, and psychologists.
- Published
- 2022
- Full Text
- View/download PDF
3. Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on FMR1 Premutation
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Flora Tassone, Dragana Protic, Emily Graves Allen, Alison D. Archibald, Anna Baud, Ted W. Brown, Dejan B. Budimirovic, Jonathan Cohen, Brett Dufour, Rachel Eiges, Nicola Elvassore, Lidia V. Gabis, Samantha J. Grudzien, Deborah A. Hall, David Hessl, Abigail Hogan, Jessica Ezzell Hunter, Peng Jin, Poonnada Jiraanont, Jessica Klusek, R. Frank Kooy, Claudine M. Kraan, Cecilia Laterza, Andrea Lee, Karen Lipworth, Molly Losh, Danuta Loesch, Reymundo Lozano, Marsha R. Mailick, Apostolos Manolopoulos, Veronica Martinez-Cerdeno, Yingratana McLennan, Robert M. Miller, Federica Alice Maria Montanaro, Matthew W. Mosconi, Sarah Nelson Potter, Melissa Raspa, Susan M. Rivera, Katharine Shelly, Peter K. Todd, Katarzyna Tutak, Jun Yi Wang, Anne Wheeler, Tri Indah Winarni, Marwa Zafarullah, and Randi J. Hagerman
- Subjects
FMR1 premutation ,FXPAC ,FXTAS ,FXAND ,FXPOI ,FMR1 molecular and clinical ,Cytology ,QH573-671 - Abstract
The premutation of the fragile X messenger ribonucleoprotein 1 (FMR1) gene is characterized by an expansion of the CGG trinucleotide repeats (55 to 200 CGGs) in the 5’ untranslated region and increased levels of FMR1 mRNA. Molecular mechanisms leading to fragile X-premutation-associated conditions (FXPAC) include cotranscriptional R-loop formations, FMR1 mRNA toxicity through both RNA gelation into nuclear foci and sequestration of various CGG-repeat-binding proteins, and the repeat-associated non-AUG (RAN)-initiated translation of potentially toxic proteins. Such molecular mechanisms contribute to subsequent consequences, including mitochondrial dysfunction and neuronal death. Clinically, premutation carriers may exhibit a wide range of symptoms and phenotypes. Any of the problems associated with the premutation can appropriately be called FXPAC. Fragile X-associated tremor/ataxia syndrome (FXTAS), fragile X-associated primary ovarian insufficiency (FXPOI), and fragile X-associated neuropsychiatric disorders (FXAND) can fall under FXPAC. Understanding the molecular and clinical aspects of the premutation of the FMR1 gene is crucial for the accurate diagnosis, genetic counseling, and appropriate management of affected individuals and families. This paper summarizes all the known problems associated with the premutation and documents the presentations and discussions that occurred at the International Premutation Conference, which took place in New Zealand in 2023.
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- 2023
- Full Text
- View/download PDF
4. P395: Assessing the collaborative relationships among diverse stakeholders working to expand access to genetic services in Puerto Rico
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Oksana Kutsa, Alissa Terry, Joann Bodurtha, Michele Caggana, Carlos Gonzalez, Enrique Lopez, Maria Frangenberg, Coralaidee Burgos, Norma Arciniegas-Medina, Amanda Bergner, and Melissa Raspa
- Subjects
Genetics ,QH426-470 ,Medicine - Published
- 2023
- Full Text
- View/download PDF
5. Outreach to new mothers through direct mail and email: recruitment in the Early Check research study
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Ryan S. Paquin, Megan A. Lewis, Blake A. Harper, Rebecca R. Moultrie, Angela Gwaltney, Lisa M. Gehtland, Holly L. Peay, Martin Duparc, Melissa Raspa, Anne C. Wheeler, Cynthia M. Powell, Nancy M. P. King, Scott M. Shone, and Donald B. Bailey Jr
- Subjects
Therapeutics. Pharmacology ,RM1-950 ,Public aspects of medicine ,RA1-1270 - Abstract
Abstract Meeting recruitment targets for clinical trials and health research studies is a notable challenge. Unsuccessful efforts to recruit participants from traditionally underserved populations can limit who benefits from scientific discovery, thus perpetuating inequities in health outcomes and access to care. In this study, we evaluated direct mail and email outreach campaigns designed to recruit women who gave birth in North Carolina for a statewide research study offering expanded newborn screening for a panel of rare health conditions. Of the 54,887 women who gave birth in North Carolina from September 28, 2018, through March 19, 2019, and were eligible to be included on the study’s contact lists, we had access to a mailing address for 97.9% and an email address for 6.3%. Rural women were less likely to have sufficient contact information available, but this amounted to less than a one percentage point difference by urbanicity. Native American women were less likely to have an email address on record; however, we did not find a similar disparity when recruitment using direct‐mail letters and postcards was concerned. Although we sent letters and emails in roughly equal proportion by urbanicity and race/ethnicity, we found significant differences in enrollment across demographic subgroups. Controlling for race/ethnicity and urbanicity, we found that direct‐mail letters and emails were effective recruitment methods. The enrollment rate among women who were sent a recruitment letter was 4.1%, and this rate increased to 5.0% among women who were also sent an email invitation. Study Highlights WHAT IS THE CURRENT KNOWLEDGE ON THE TOPIC? Under‐representation by traditionally underserved populations in clinical trials and health research is a challenge that may in part reflect inequitable opportunities to participate. WHAT QUESTION DID THIS STUDY ADDRESS? Are direct‐mail and email outreach strategies effective for reaching and recruiting women from traditionally underserved and rural populations to participate in large‐scale, population‐based research? WHAT DOES THIS STUDY ADD TO OUR KNOWLEDGE? Despite sending recruitment letters and email invitations in roughly equal proportion by urbanicity and race/ethnicity, women living in rural areas were less likely to enroll (2.8%) than women from urban areas (4.2%). Additionally, enrollment rates decreased as the probability that women were members of a racial or ethnic minority group increased. HOW MIGHT THIS CHANGE CLINICAL PHARMACOLOGY OR TRANSLATIONAL SCIENCE? Results from this study might encourage researchers to take a holistic and participant‐centered view of barriers to study enrollment that may disproportionately affect underserved communities, including differences in willingness to participate, trust, and access to resources needed for uptake.
- Published
- 2021
- Full Text
- View/download PDF
6. Severe Combined Immunodeficiency: Knowledge and Information Needs Among Healthcare Providers
- Author
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Oksana Kutsa, Angela Gwaltney, Alissa Creamer, and Melissa Raspa
- Subjects
severe combined immunodeficiency ,information needs ,healthcare providers ,newborn screening ,knowledge gaps ,rare genetic conditions ,Pediatrics ,RJ1-570 - Abstract
BackgroundSevere combined immunodeficiency (SCID) is a group of life-threatening genetic disorders responsible for severe dysfunctions of the immune system. Despite the expansion of newborn screening in the U.S., there are gaps in healthcare providers' knowledge of SCID.MethodsWe recruited 277 U.S. healthcare providers for an online survey. The survey assessed providers' experience with SCID patients, knowledge about SCID, and needs and preferred formats for SCID-related informational resources. We examined differences between providers who have seen 2 or more patients with SCID (SCID provider group) and those who have seen 0–1 SCID patients (non-SCID provider group).ResultsOverall, 210 (75.8%) providers were included in the non-SCID provider group, and 121 (57.6%) of these providers were pediatricians. Compared to the SCID provider group, non-SCID provider group reported lower mean rating of SCID knowledge (x̄ = 4.8 vs. x̄ = 8.6, p < 0.0001) and higher informational needs. The largest informational needs identified by the non-SCID provider group were “understanding specific type of SCID” and “understanding what to expect across the lifespan.” In the SCID provider group, the highest rated informational need was “family support referrals.” Participants in the non-SCID provider group identified scientific publications and websites as preferred formats, with some variation between medical specialties.ConclusionBased on their experience with treating SCID patients, providers have varying levels of SCID knowledge and different informational needs. For providers who have encountered few SCID patients, informational needs start early, usually immediately after receiving a positive newborn screening result. These findings provide useful direction for the development and preferred outlets for receiving SCID-related information, with some variations between different types of providers. Results from this study will serve as a guide for creating relevant and accessible SCID resources for providers who can utilize them to improve care for SCID patients.
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- 2022
- Full Text
- View/download PDF
7. Early Check: translational science at the intersection of public health and newborn screening
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Donald B. Bailey, Lisa M. Gehtland, Megan A. Lewis, Holly Peay, Melissa Raspa, Scott M. Shone, Jennifer L. Taylor, Anne C. Wheeler, Michael Cotten, Nancy M. P. King, Cynthia M. Powell, Barbara Biesecker, Christine E. Bishop, Beth Lincoln Boyea, Martin Duparc, Blake A. Harper, Alex R. Kemper, Stacey N. Lee, Rebecca Moultrie, Katherine C. Okoniewski, Ryan S. Paquin, Denise Pettit, Katherine Ackerman Porter, and Scott J. Zimmerman
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Newborn screening ,Rare disorders ,Translational science ,Pediatrics ,RJ1-570 - Abstract
Abstract Background Newborn screening (NBS) occupies a unique space at the intersection of translational science and public health. As the only truly population-based public health program in the United States, NBS offers the promise of making the successes of translational medicine available to every infant with a rare disorder that is difficult to diagnose clinically, but for which strong evidence indicates that presymptomatic treatment will substantially improve outcomes. Realistic NBS policy requires data, but rare disorders face a special challenge: Screening cannot be done without supportive data, but adequate data cannot be collected in the absence of large-scale screening. The magnitude and scale of research to provide this expanse of data require working with public health programs, but most do not have the resources or mandate to conduct research. Methods To address this gap, we have established Early Check, a research program in partnership with a state NBS program. Early Check provides the infrastructure needed to identify conditions for which there have been significant advances in treatment potential, but require a large-scale, population-based study to test benefits and risks, demonstrate feasibility, and inform NBS policy. Discussion Our goal is to prove the benefits of a program that can, when compared with current models, accelerate understanding of diseases and treatments, reduce the time needed to consider inclusion of appropriate conditions in the standard NBS panel, and accelerate future research on new NBS conditions, including clinical trials for investigational interventions. Trial registration Clinicaltrials.gov registration #NCT03655223. Registered on August 31, 2018.
- Published
- 2019
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8. Information and Emotional Support Needs of Families Whose Infant Was Diagnosed With SCID Through Newborn Screening
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Melissa Raspa, Molly Lynch, Linda Squiers, Angela Gwaltney, Katherine Porter, Holly Peay, Alissa Huston, Brian Fitzek, and John G. Boyle
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severe combined immunodeficiency ,newborn screening ,parents and families ,information needs ,emotional needs ,medically underserved ,Immunologic diseases. Allergy ,RC581-607 - Abstract
Background: Now that severe combined immune deficiency (SCID) has been added to newborn screening panels in all 50 states in the U.S., there is a need to develop and disseminate well-designed educational materials to parents who need information to make informed decisions about treatment and care for identified infants. SCID Compass was designed to address this gap. We summarize the results of two needs assessment activities for parents—a journey mapping exercise and online survey—which will inform the development of a website and new resources.Methods: We conducted in-depth interviews with seven parents of children with SCID identified through newborn screening. Participants were asked to complete a journey map to describe key timepoints related to SCID, starting at diagnosis through present day. This qualitative information informed an online survey that was completed by 76 parents who had a child with SCID. All participants were from the United States.Results: Analysis of journey maps revealed five distinct stages that parents experience: (1) Diagnosis, (2) Pre-Treatment, (3) Treatment, (4) Post-Treatment, and (5) The New Normal. At each stage, parents described unique emotions, challenges, contextual factors that can make a difference in their experience, and information and resource needs. Survey results indicated the highest-rated information needs for parents were understanding available treatment options and what to expect across the SCID lifespan. Emotional support needs included dealing with uncertainty about child's future and additional opportunities to connect with other families. Parents preferred receiving new materials from their healthcare provider or other families, and preferred materials in print, from social media, or online. Several differences were found among subgroups of parents, including those whose child had been identified through newborn screening as well as those considered medically underserved.Conclusions: Findings about unmet parent needs and informational preferences will serve as the foundation for creating a suite of resources for those who have a child with SCID. The materials will be tailored to specific stages of the journey. By using a family-centered approach, we will help to ensure that the materials designed and developed as part of SCID Compass will be understandable, comprehensive, and useful.
- Published
- 2020
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9. Supporting informed clinical trial decisions: Results from a randomized controlled trial evaluating a digital decision support tool for those with intellectual disability.
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Lauren A McCormack, Amanda Wylie, Rebecca Moultrie, Robert D Furberg, Anne C Wheeler, Katherine Treiman, Donald B Bailey, and Melissa Raspa
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Medicine ,Science - Abstract
BACKGROUND:Informed consent requires that individuals understand the nature of the study, risks and benefits of participation. Individuals with intellectual disabilities (ID) have cognitive and adaptive impairments that may affect their ability to provide informed consent. New treatments and clinical trials for fragile X syndrome, the most commonly known inherited cause of ID, necessitate the development of methods to improve the informed consent process. The goal of this study was to compare the efficacy of a digital decision support tool with that of standard practice for informed consent and to examine whether the tool can improve decisional capacity for higher functioning individuals. METHODS:Participants (N = 89; mean age = 21.2 years) were allocated to the experimental group (consenting information provided via the digital decision support tool), or the comparison group (information provided via standard practice). Participants were assessed on four aspects of decisional capacity (Understanding, Appreciating, Reasoning, and Expressing a choice). We used regression analyses to test the impact of the tool on each outcome, repeating the analyses on the higher functioning subsample. RESULTS:No differences existed in any domain of decisional capacity for the sample in full. However, participants in the higher IQ subsample who used the tool scored better on Understanding after adjustment (β = 0.25, p = 0.04), but not on Appreciating or Reasoning. No differences by experimental group existed in the decision to join the hypothetical trial for the full sample or higher functioning subsample. CONCLUSIONS:A decision support tool shows promise for individuals with fragile X syndrome with higher cognitive abilities. Future studies should examine the level of cognitive ability needed for sufficient understanding, whether these findings can be translated to other clinical populations, and the impact of the tool in larger trials and on trial retention.
- Published
- 2019
- Full Text
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10. A Voluntary Statewide Newborn Screening Pilot for Spinal Muscular Atrophy: Results from Early Check
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Katerina S. Kucera, Jennifer L. Taylor, Veronica R. Robles, Kristin Clinard, Brooke Migliore, Beth Lincoln Boyea, Katherine C. Okoniewski, Martin Duparc, Catherine W. Rehder, Scott M. Shone, Zheng Fan, Melissa Raspa, Holly L. Peay, Anne C. Wheeler, Cynthia M. Powell, Donald B. Bailey, and Lisa M. Gehtland
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newborn screening ,spinal muscular atrophy ,genetics ,SMN1 gene ,pilot study ,Pediatrics ,RJ1-570 - Abstract
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 (EC) research study. Here, we describe the EC experience from October 2018 through December 2020. We enrolled a total of 12,065 newborns and identified one newborn with 0 copies of SMN1 and two copies of SMN2, consistent with severe early onset of SMA. We also detected one false positive result, likely stemming from an unrelated blood disorder associated with a low white blood cell count. We evaluated the timing of NBS for babies enrolled prenatally (n = 932) and postnatally (n = 11,133) and reasons for delays in screening and reporting. Although prenatal enrollment led to faster return of results (median = 13 days after birth), results for babies enrolled postnatally were still available within a timeframe (median = 21 days after birth) that allowed the opportunity to receive essential treatment early in life. We evaluated an SMA q-PCR screening method at two separate time points, confirming the robustness of the assay. The pilot project provided important information about SMA screening in anticipation of forthcoming statewide expansion as part of regular NBS.
- Published
- 2021
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11. Latent Class Analysis Identifies Distinctive Behavioral Subtypes in Children with Fragile X Syndrome
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Walter E. Kaufmann, Melissa Raspa, Carla M. Bann, Julia M. Gable, Holly K. Harris, Dejan B. Budimirovic, and Reymundo Lozano
- Abstract
Fragile X syndrome (FXS) is characterized by variable neurobehavioral abnormalities, which leads to difficulties in developing and evaluating treatments and in determining accurate prognosis. We employed a pediatric cross-sectional sample (1,072 males, 338 females) from FORWARD, a clinic-based natural history study, to identify behavioral subtypes by latent class analysis. Input included co-occurring behavioral conditions, sleep and sensory problems, autistic behavior scales (SCQ, SRS-2), and the Aberrant Behavior Checklist revised for FXS (ABC[subscript FX]). A 5-class solution yielded the most clinically meaningful, pharmacotherapy independent behavioral groups with distinctive SCQ, SRS-2, and ABC[subscript FX] profiles, and adequate non-overlap ([greater than or equal to] 71%): "Mild" (31%), "Moderate without Social Impairment" (32%), "Moderate with Social Impairment" (7%), "Moderate with Disruptive Behavior" (20%), and "Severe" (9%). Our findings support FXS subtyping, for improving clinical management and therapeutic development. [Written with the FORWARD Consortium.]
- Published
- 2024
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12. Sensory Difficulties in Children With an FMR1 Premutation
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Melissa Raspa, Amanda Wylie, Anne C. Wheeler, Jacek Kolacz, Anne Edwards, Keri Heilman, and Stephen W. Porges
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FMR1 premutation ,fragile X syndrome ,sensory processing ,hypersensitivity ,hyposensitivity ,feeding behavior ,Genetics ,QH426-470 - Abstract
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 premutation have shown sensory challenges as early as infancy and into early childhood. This study sought to examine differences in sensory difficulties in children with an FMR1 premutation compared with children with FXS and typically developing children. We conducted an online survey of 176 parents of affected children (FXS or FMR1 premutation). Most respondents were mothers who are Caucasian (86%), have a 4-year college or graduate degree (68%), and are married (92%). Children ranged in age from 5 to 18, with a mean age of 13.0 years (3.3 SD). Participants completed the BBC Sensory Scales, a 50-item Likert-type scale (1 = Almost Always, 4 = Almost Never) comprised of 8 subscales that assessed auditory processing, visual processing, tactile processing, and eating and feeding behaviors. Mean scores were calculated for the items and each of the subscales. Non-parametric tests examined differences in child and family-level variables. Across all BBCSS subscales, children with an FMR1 premutation displayed more sensory challenges than typically developing children. For six out of the eight subscales, children with the full mutation had the lowest scores indicating more sensory challenges, but this was closely followed by children with an FMR1 premutation. Fragile X status was associated with seven of the eight subscales; children with an FMR1 premutation did not differ from children with FXS on any of the subscales but had more digestive problems than children with no fragile X. Gender, autism status, and family income were also related to sensory sensitivities. In conclusion, these data provide further evidence that some children with an FMR1 premutation experience sensory difficulties that are similar to children with FXS but different than typically developing children.
- Published
- 2018
- Full Text
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13. Early Identification of Fragile X Syndrome through Expanded Newborn Screening
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Katherine C. Okoniewski, Anne C. Wheeler, Stacey Lee, Beth Boyea, Melissa Raspa, Jennifer L. Taylor, and Donald B. Bailey
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fragile X syndrome ,newborn screening ,early identification ,Neurosciences. Biological psychiatry. Neuropsychiatry ,RC321-571 - Abstract
Over the past 20 years, research on fragile X syndrome (FXS) has provided foundational understanding of the complex experiences of affected individuals and their families. Despite this intensive focus, there has been little progress on earlier identification, with the average age of diagnosis being 3 years. For intervention and treatment approaches to have the greatest impact, they need to begin shortly after birth. To access this critical timespan, differential methods of earlier identification need to be considered, with an emerging focus on newborn screening practices. Currently, barriers exist that prevent the inclusion of FXS on standard newborn screening panels. To address these barriers, an innovative program is being implemented in North Carolina to offer voluntary screening for FXS under a research protocol, called Early Check. This program addresses the difficulties observed in prior pilot studies, such as recruitment, enrollment, lab testing, and follow-up. Early Check provides an opportunity for stakeholders and the research community to continue to gain valuable information about the feasibility and greater impact of newborn screening on the FXS population.
- Published
- 2019
- Full Text
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14. 'Just tell me what's going on': The views of parents of children with genetic conditions regarding the research use of their child's electronic health record.
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Sara M. Andrews, Melissa Raspa, Anne Edwards, Rebecca Moultrie, Lauren Turner-Brown, Laura Wagner, Alexandra Alvarez Rivas, Mary Katherine Frisch, and Anne C. Wheeler
- Published
- 2020
- Full Text
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15. Psychometric Assessment of the Rett Syndrome Caregiver Assessment of Symptom Severity (RCASS)
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Melissa Raspa, Angela Gqaltney, Carla Bann, Jana von Hehn, Timothy A. Benke, Eric D. Marsh, Sarika U. Peters, Amitha Ananth, Alan K. Percy, and Jeffrey L. Neul
- Abstract
Purpose: Rett syndrome is a severe neurodevelopmental disorder that affects about 1 in 10,000 females. Clinical trials of disease modifying therapies are on the rise, but there are few psychometrically sound caregiver-reported outcome measures available to assess treatment benefit. We report on a new caregiver-reported outcome measure, the Rett Caregiver Assessment of Symptom Severity (RCASS). Methods: Using data from the Rett Natural History Study (n=649), we examined the factor structure, using both exploratory and confirmatory factor analysis, and the reliability and validity of the RCASS. Results: The four-factor model had the best overall fit, which covered movement, communication, behavior, and Rett-specific symptoms. The RCASS had moderate internal consistency. Strong face validity was found with age and mutation type, and criterion validity was established with other similar measures, including the Revised Motor-Behavior Assessment Scale, Clinical Severity Scale, Clinical Global Impression Scale, and the Child Health Questionnaire. Conclusion: These data provide initial evidence that the RCASS is a viable caregiver-outcome measure for use in clinical trials in Rett syndrome. Future work to assess sensitivity to change and other measures of reliability, such as test-retest and inter-rater agreement, are needed.
- Published
- 2023
16. The International Fragile X Premutation Registry: building a resource for research and clinical trial readiness
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David Hessl, Hilary Rosselot, Robert Miller, Glenda Espinal, Jessica Famula, Stephanie L Sherman, Peter K Todd, Ana Maria Cabal Herrera, Karen Lipworth, Jonathan Cohen, Deborah A Hall, Maureen Leehey, Jim Grigsby, Jayne Dixon Weber, Sundus Alusi, Anne Wheeler, Melissa Raspa, Tamaro Hudson, and Sonya K Sobrian
- Subjects
Fragile X Mental Retardation Protein ,Guanine ,Genetics ,Humans ,Neurodegenerative Diseases ,Registries ,Trinucleotide Repeat Expansion ,Genetics (clinical) - Abstract
FMR1premutation cytosine-guanine-guanine repeat expansion alleles are relatively common mutations in the general population that are associated with a neurodegenerative disease (fragile X-associated tremor/ataxia syndrome), reproductive health problems and potentially a wide range of additional mental and general health conditions that are not yet well-characterised. The International Fragile X Premutation Registry (IFXPR) was developed to facilitate and encourage research to better understand theFMR1premutation and its impact on human health, to facilitate clinical trial readiness by identifying and characterising diverse cohorts of individuals interested in study participation, and to build community and collaboration among carriers, family members, researchers and clinicians around the world. Here, we describe the development and content of the IFXPR, characterise its first 747 registrants from 32 countries and invite investigators to apply for recruitment support for their project(s). With larger numbers, increased diversity and potentially the future clinical characterisation of registrants, the IFXPR will contribute to a more comprehensive and accurate understanding of the fragile X premutation in human health and support treatment studies.
- Published
- 2022
17. Uncertainties experienced by parents of children diagnosed with severe combined immunodeficiency through newborn screening
- Author
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Melissa Raspa, Oksana Kutsa, Sara M. Andrews, Angela Y. Gwaltney, Erin Mallonee, Alissa Creamer, Paul K. J. Han, and Barbara B. Biesecker
- Subjects
Genetics ,Genetics (clinical) - Published
- 2023
18. Latent Class Analysis Identifies Distinctive Behavioral Subtypes in Children with Fragile X Syndrome
- Author
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Julia Gable, Melissa Raspa, Carla Bann, and Walter Kaufmann
- Subjects
Developmental and Educational Psychology - Published
- 2022
19. Latent Class Analysis Identifies Distinctive Behavioral Subtypes in Children with Fragile X Syndrome
- Author
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Walter E, Kaufmann, Melissa, Raspa, Carla M, Bann, Julia M, Gable, Holly K, Harris, Dejan B, Budimirovic, Reymundo, Lozano, and Stephanie M, Morris
- Abstract
Fragile X syndrome (FXS) is characterized by variable neurobehavioral abnormalities, which leads to difficulties in developing and evaluating treatments and in determining accurate prognosis. We employed a pediatric cross-sectional sample (1,072 males, 338 females) from FORWARD, a clinic-based natural history study, to identify behavioral subtypes by latent class analysis. Input included co-occurring behavioral conditions, sleep and sensory problems, autistic behavior scales (SCQ, SRS-2), and the Aberrant Behavior Checklist revised for FXS (ABC
- Published
- 2022
20. Outreach to new mothers through direct mail and email: recruitment in the Early Check research study
- Author
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Rebecca Moultrie, Martin Duparc, Cynthia M. Powell, Angela Gwaltney, Lisa M. Gehtland, Megan A. Lewis, Ryan S. Paquin, Holly L. Peay, Nancy M. P. King, Anne Wheeler, Blake A. Harper, Scott M. Shone, Melissa Raspa, and Donald B. Bailey
- Subjects
Rural Population ,Minority group ,Population ,Ethnic group ,Mothers ,RM1-950 ,Vulnerable Populations ,General Biochemistry, Genetics and Molecular Biology ,Article ,Underserved Population ,Email address ,Neonatal Screening ,North Carolina ,Humans ,Postal Service ,General Pharmacology, Toxicology and Pharmaceutics ,education ,education.field_of_study ,Clinical Trials as Topic ,Electronic Mail ,General Neuroscience ,Research ,Patient Selection ,Infant, Newborn ,General Medicine ,Articles ,Clinical trial ,Outreach ,Female ,Therapeutics. Pharmacology ,Public aspects of medicine ,RA1-1270 ,Rural area ,Psychology ,Demography - Abstract
Meeting recruitment targets for clinical trials and health research studies is a notable challenge. Unsuccessful efforts to recruit participants from traditionally underserved populations can limit who benefits from scientific discovery, thus perpetuating inequities in health outcomes and access to care. In this study, we evaluated direct mail and email outreach campaigns designed to recruit women who gave birth in North Carolina for a statewide research study offering expanded newborn screening for a panel of rare health conditions. Of the 54,887 women who gave birth in North Carolina from September 28, 2018, through March 19, 2019, and were eligible to be included on the study’s contact lists, we had access to a mailing address for 97.9% and an email address for 6.3%. Rural women were less likely to have sufficient contact information available, but this amounted to less than a one percentage point difference by urbanicity. Native American women were less likely to have an email address on record; however, we did not find a similar disparity when recruitment using direct‐mail letters and postcards was concerned. Although we sent letters and emails in roughly equal proportion by urbanicity and race/ethnicity, we found significant differences in enrollment across demographic subgroups. Controlling for race/ethnicity and urbanicity, we found that direct‐mail letters and emails were effective recruitment methods. The enrollment rate among women who were sent a recruitment letter was 4.1%, and this rate increased to 5.0% among women who were also sent an email invitation. Study Highlights WHAT IS THE CURRENT KNOWLEDGE ON THE TOPIC? Under‐representation by traditionally underserved populations in clinical trials and health research is a challenge that may in part reflect inequitable opportunities to participate. WHAT QUESTION DID THIS STUDY ADDRESS? Are direct‐mail and email outreach strategies effective for reaching and recruiting women from traditionally underserved and rural populations to participate in large‐scale, population‐based research? WHAT DOES THIS STUDY ADD TO OUR KNOWLEDGE? Despite sending recruitment letters and email invitations in roughly equal proportion by urbanicity and race/ethnicity, women living in rural areas were less likely to enroll (2.8%) than women from urban areas (4.2%). Additionally, enrollment rates decreased as the probability that women were members of a racial or ethnic minority group increased. HOW MIGHT THIS CHANGE CLINICAL PHARMACOLOGY OR TRANSLATIONAL SCIENCE? Results from this study might encourage researchers to take a holistic and participant‐centered view of barriers to study enrollment that may disproportionately affect underserved communities, including differences in willingness to participate, trust, and access to resources needed for uptake.
- Published
- 2021
21. A Psychometric Evaluation of the Motor-Behavioral Assessment Scale for Use as an Outcome Measure in Rett Syndrome Clinical Trials
- Author
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Daniel G. Glaze, Walter E. Kaufmann, Jeffrey L. Neul, Sarika U. Peters, Peter Heydemann, David N. Lieberman, Steven A. Skinner, Alan K. Percy, Melissa Raspa, Tim A. Benke, Cary Fu, Richard H. Haas, Robin C. C. Ryther, Mary Jones, Angela Gwaltney, Eric Marsh, Shannon M. Standridge, and Carla Bann
- Subjects
Psychometrics ,Child Behavior ,Rett syndrome ,Test validity ,Motor Activity ,Neuropsychological Tests ,behavioral disciplines and activities ,Article ,Neurodevelopmental disorder ,Arts and Humanities (miscellaneous) ,Outcome Assessment, Health Care ,Item response theory ,Rett Syndrome ,Developmental and Educational Psychology ,medicine ,Humans ,Child ,Psychomotor learning ,General Medicine ,medicine.disease ,Clinical trial ,Psychiatry and Mental health ,Neuropsychology and Physiological Psychology ,Pediatrics, Perinatology and Child Health ,Female ,Neurology (clinical) ,Psychology ,Natural history study ,Clinical psychology - Abstract
Rett syndrome (RTT) is a neurodevelopmental disorder that primarily affects females. Recent work indicates the potential for disease modifying therapies. However, there remains a need to develop outcome measures for use in clinical trials. Using data from a natural history study (n = 1,075), we examined the factor structure, internal consistency, and validity of the clinician-reported Motor Behavior Assessment scale (MBA). The analysis resulted in a five-factor model: (1) motor dysfunction, (2) functional skills, (3) social skills, (4) aberrant behavior, and (5) respiratory behaviors. Item Response Theory (IRT) analyses demonstrated that all items had acceptable discrimination. The revised MBA subscales showed a positive relationship with parent reported items, age, and a commonly used measure of clinical severity in RTT, and mutation type. Further work is needed to evaluate this measure longitudinally and to add items related to the RTT phenotype.
- Published
- 2020
22. 'Just tell me what’s going on': The views of parents of children with genetic conditions regarding the research use of their child’s electronic health record
- Author
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Alexandra Alvarez Rivas, Rebecca Moultrie, Anne Edwards, Lauren Turner-Brown, Laura Danielle Wagner, Anne Wheeler, Melissa Raspa, Mary Katherine Frisch, and Sara Andrews
- Subjects
Male ,Parents ,Autism Spectrum Disorder ,Genetics, Medical ,media_common.quotation_subject ,Health Informatics ,Trust ,Research and Applications ,Social issues ,Affect (psychology) ,Altruism ,Ethics, Research ,Developmental psychology ,Electronic Health Records ,Humans ,Confidentiality ,Bioethical Issues ,Child ,health care economics and organizations ,media_common ,Information Dissemination ,Bioethics ,Focus Groups ,Transparency (behavior) ,Focus group ,Content analysis ,Fragile X Syndrome ,Female ,Psychology ,Attitude to Health - Abstract
Objective The purpose of this study was to understand the ethical, legal, and social issues described by parents of children with known or suspected genetic conditions that cause intellectual and developmental disabilities regarding research use of their child’s electronic health record (EHR). Materials and Methods We conducted 4 focus groups with parents of children with a known (n = 12) or suspected (n = 11) genetic condition, as well as 2 comparison groups with parents who had a child with no known genetic condition (n = 15). Focus group transcripts were coded and analyzed using directed content analysis. Results After weighing the risks and benefits, parents of children with known or suspected genetic conditions were willing to share their child’s EHR for research studies under certain conditions. Preferences were for studies conducted by universities or nonprofits that might benefit their child or others with the same condition. Parents also valued return of research results. Discussion Trust, transparency, altruism, and concerns about privacy emerged as factors that affect parents’ willingness to allow research use of their child’s EHR. Conclusion Researchers should consider how to build trust with parents by increasing transparency of the research process and explaining specifically how they will ensure the confidentiality of EHR data.
- Published
- 2020
23. Expert Evaluation of Strategies to Modernize Newborn Screening in the United States
- Author
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Melissa Raspa, Katherine Porter, Donald Bailey, Holly Peay, Sara Andrews, and Angela Gwaltney
- Subjects
Research ,Child Health Services ,Infant, Newborn ,General Medicine ,Pediatrics ,Quality Improvement ,United States ,Online Only ,Neonatal Screening ,Pregnancy ,Surveys and Questionnaires ,Humans ,Female ,Expert Testimony ,Original Investigation - Abstract
Key Points Question What solutions do subject matter experts recommend to prepare newborn screening for a rapid increase in the number of transformative therapies that must be provided early in life? Findings In this survey study, 40 experts in newborn screening evaluated 20 potential solutions. The highest rated solutions addressed cross-state variability, national harmonization, data needed for clinical and policy decisions, and support to expedite state implementation. Meaning These findings suggest that a coordinated national vision that incorporates effective solutions will be needed for newborn screening to accommodate an increasing number of transformative therapies., This survey study identifies and evaluates expert recommendations for modernizing newborn screening in preparation for rapid increases in the number of novel therapies that must be provided early in life., Importance Novel therapies, including cell and gene therapies, can radically improve outcomes among patients with rare disorders, especially if provided early. Newborn screening (NBS) could support early access to novel therapies, but the speed of new therapy development is a disruptive event for which the public health NBS system and state newborn screening programs are unprepared. Objective To identify and evaluate possible solutions for modernizing NBS. Design, Setting, and Participants In this survey study, NBS experts representing clinical research, federal or state advisory boards, patient advocacy groups, industry, or state laboratories completed an online survey in which they considered 20 potential solutions for modernizing NBS and rated each. Exposures Participants considered 20 potential solutions in the 5 following domains: (1) timeliness of disorder review, (2) alternative mechanisms to offer screening for new disorders not currently part of NBS, (3) expanded data collection, (4) support for states, and (5) emerging methods of screening and their consequences. Main Outcomes and Measures Mean ratings for each solution on efficacy, acceptability, feasibility, and sustainability. Results The survey was completed by 40 NBS experts (median [range] age, 54 [37-73] years; 22 [55.0%] women). Participants acknowledged that substantial change is needed to prepare the NBS system for rapid expansion of novel therapies; on a scale of 0 (no change) to 10 (extensive change), the median (range) score was 8 (2-10), with 18 respondents (45.0%) believing that the NBS would need many new components or an entirely new system to accommodate the changes. All solutions for modernization were considered potentially efficacious by at least 23 respondents (57.5%). The 2 most strongly endorsed were to establish mechanisms for cross-state data coordination for provisional disorders (38 respondents [95.0%]) and create a network of regional screening laboratories (36 [90.0%]). These were closely followed by aligning programs across federal agencies (35 [87.5%]), expanding funding for research (34 [85.0%]), expanding funding to states (34 [85.0%]), building capacity to identify genetic variants and an associated clinical database (34 [85.0%]), and conducting surveillance to study long-term outcomes (34 [85.0%]). Conclusions and Relevance In this study, there was consensus among experts that NBS needs to change if the system is to be prepared for a rapid increase in transformative therapies. To our knowledge, this is the first systematic inventory of potential solutions for modernizing NBS and expert perceptions of each. The findings suggest that the modernization of NBS will require the integration of highly rated solutions, strategic planning, and coordination among multiple stakeholders.
- Published
- 2021
24. Severe Combined Immunodeficiency: Knowledge and Information Needs Among Healthcare Providers
- Author
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Oksana Kutsa, Angela Gwaltney, Alissa Creamer, and Melissa Raspa
- Subjects
Pediatrics, Perinatology and Child Health - Abstract
BackgroundSevere combined immunodeficiency (SCID) is a group of life-threatening genetic disorders responsible for severe dysfunctions of the immune system. Despite the expansion of newborn screening in the U.S., there are gaps in healthcare providers' knowledge of SCID.MethodsWe recruited 277 U.S. healthcare providers for an online survey. The survey assessed providers' experience with SCID patients, knowledge about SCID, and needs and preferred formats for SCID-related informational resources. We examined differences between providers who have seen 2 or more patients with SCID (SCID provider group) and those who have seen 0–1 SCID patients (non-SCID provider group).ResultsOverall, 210 (75.8%) providers were included in the non-SCID provider group, and 121 (57.6%) of these providers were pediatricians. Compared to the SCID provider group, non-SCID provider group reported lower mean rating of SCID knowledge (x̄ = 4.8 vs. x̄ = 8.6, p < 0.0001) and higher informational needs. The largest informational needs identified by the non-SCID provider group were “understanding specific type of SCID” and “understanding what to expect across the lifespan.” In the SCID provider group, the highest rated informational need was “family support referrals.” Participants in the non-SCID provider group identified scientific publications and websites as preferred formats, with some variation between medical specialties.ConclusionBased on their experience with treating SCID patients, providers have varying levels of SCID knowledge and different informational needs. For providers who have encountered few SCID patients, informational needs start early, usually immediately after receiving a positive newborn screening result. These findings provide useful direction for the development and preferred outlets for receiving SCID-related information, with some variations between different types of providers. Results from this study will serve as a guide for creating relevant and accessible SCID resources for providers who can utilize them to improve care for SCID patients.
- Published
- 2021
25. Research Gaps in Fragile X Syndrome: An Updated Literature Review to Inform Clinical and Public Health Practice
- Author
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Melissa Raspa, Anne Wheeler, Katherine C. Okoniewski, Anne Edwards, and Samantha Scott
- Subjects
Psychiatry and Mental health ,Pediatrics, Perinatology and Child Health ,Developmental and Educational Psychology - Abstract
The phenotypic impact of fragile X syndrome (FXS) has been well-documented since the discovery of the fragile X messenger ribonucleoprotein 1 gene 30 years ago. However, gaps remain in clinical and public health research. The purpose of this literature review was to determine the extent to which these gaps have been addressed and identify targeted areas of future research.We conducted an electronic search of several scientific databases using a variety of key words. The search focused on 5 areas identified as research gaps by an earlier review: (1) diagnosis, (2) phenotypic presentation, (3) familial impact, (4) interventions and treatments, and (5) life span perspectives. Inclusion criteria included publication between 2014 and 2020, focus on human subjects, and publication in English. A total of 480 articles were identified, 365 were reviewed, and 112 are summarized in this review.Results are organized into the following categories: (1) FXS phenotype and subtypes (FXS subtypes, medical profile, cognitive/developmental profile, social and behavioral profile); (2) needs of adults; (3) public health needs (clinical diagnosis and newborn screening, health care needs, and access); (4) treatment (treatment priorities, pharmacological treatments, and behavioral and educational interventions); and (5) families (economic burden and mother-child relationship).Despite the progress in many areas of FXS research, work remains to address gaps in clinical and public health knowledge. We pose 3 main areas of focused research, including early detection and diagnosis, determinants of health, and development and implementation of targeted interventions.
- Published
- 2021
26. Emergence of Developmental Delay in Infants and Toddlers With an FMR1 Mutation
- Author
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Angela Gwaltney, Katherine C. Okoniewski, Jane E. Roberts, Melissa Raspa, Elizabeth Berry-Kravis, Donald B. Bailey, Molly Losh, Susan M. Rivera, Gary E. Martin, Anne Wheeler, Kelly N. Botteron, Heather C. Hazlett, David R Hessl, and Dejan B. Budimirovic
- Subjects
business.industry ,Psychological intervention ,medicine.disease ,FMR1 ,Developmental psychology ,Fragile X syndrome ,Language development ,Pediatrics, Perinatology and Child Health ,Mutation (genetic algorithm) ,medicine ,Early childhood ,Toddler ,business ,Motor skill - Abstract
BACKGROUND: Children with FMR1 gene expansions are known to experience a range of developmental challenges, including fragile X syndrome. However, little is known about early development and symptom onset, information that is critical to guide earlier identification, more accurate prognoses, and improved treatment options. METHODS: Data from 8 unique studies that used the Mullen Scales of Early Learning to assess children with an FMR1 gene expansion were combined to create a data set of 1178 observations of >500 young children. Linear mixed modeling was used to explore developmental trajectories, symptom onset, and unique developmental profiles of children RESULTS: Boys with an FMR1 gene full mutation showed delays in early learning, motor skills, and language development as young as 6 months of age, and both sexes with a full mutation were delayed on all developmental domains by their second birthday. Boys with a full mutation continued to gain skills over early childhood at around half the rate of their typically developing peers; girls with a full mutation showed growth at around three-quarters of the rate of their typically developing peers. Although children with a premutation were mostly typical in their developmental profiles and trajectories, mild but significant delays in fine motor skills by 18 months were detected. CONCLUSIONS: Children with the FMR1 gene full mutation demonstrate significant developmental challenges within the first 2 years of life, suggesting that earlier identification is needed to facilitate earlier implementation of interventions and therapeutics to maximize effectiveness.
- Published
- 2021
27. Health care for individuals with fragile X Syndrome: Understanding access and quality
- Author
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Amanda Wylie, Ellen Bishop, Adrienne Villagomez, Anne Wheeler, and Melissa Raspa
- Subjects
Adult ,Male ,Parents ,congenital, hereditary, and neonatal diseases and abnormalities ,medicine.medical_specialty ,Adolescent ,Developmental Disabilities ,Health Personnel ,media_common.quotation_subject ,Convenience sample ,Health Services Accessibility ,Young Adult ,03 medical and health sciences ,0302 clinical medicine ,Intellectual Disability ,Surveys and Questionnaires ,Health care ,medicine ,Humans ,Disabled Persons ,Family ,Quality (business) ,030212 general & internal medicine ,Parental perception ,Child ,Quality of Health Care ,media_common ,Primary Health Care ,business.industry ,Public Health, Environmental and Occupational Health ,General Medicine ,medicine.disease ,Fragile X syndrome ,Family member ,Attitude ,Caregivers ,Social Class ,Child, Preschool ,Fragile X Syndrome ,Family medicine ,Female ,Clinical Competence ,business ,030217 neurology & neurosurgery ,Health care quality - Abstract
Background Previous research suggests that individuals with intellectual or developmental disabilities (IDD) may experience challenges accessing quality health care. Objective/Hypothesis This study explored parent perceptions of access and quality of health care services for children with fragile X syndrome (FXS), the leading hereditary cause of intellectual/developmental disabilities. Methods Nearly 600 primary caregivers of at least one child with FXS completed an online survey on access, barriers, and quality of health care for their family member with FXS (N = 731). Results In a convenience sample of well-educated and affluent caregivers, the majority did not report experiencing difficulties with access to services. Caregivers of younger children and those with lower family incomes reported greater challenges with health care access. Nearly 40% of caregivers indicated that their child's PCP was not as knowledgeable about FXS-related needs as they would prefer, indicating a possible knowledge gap on the part of providers. Conclusions These factors represent potential barriers to quality health care for individuals with FXS, with potential lifelong effects ranging from delayed age of diagnosis to difficulty accessing a PCP in adulthood.
- Published
- 2019
28. Decisional Capacity for Informed Consent in Males and Females with Fragile X Syndrome
- Author
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Margaret DeRamus, Amanda Wylie, Anne Edwards, Paul S. Appelbaum, Kylee Miller, Adrienne Villagomez, Anne Wheeler, Melissa Raspa, and Donald B. Bailey
- Subjects
Adult ,Male ,medicine.medical_specialty ,Adolescent ,Decision Making ,Morals ,Article ,Young Adult ,03 medical and health sciences ,Sex Factors ,0302 clinical medicine ,Informed consent ,Intellectual disability ,Developmental and Educational Psychology ,medicine ,Humans ,0501 psychology and cognitive sciences ,Child ,Informed Consent ,Public health ,05 social sciences ,Cognition ,medicine.disease ,Fragile X syndrome ,Clinical trial ,Fragile X Syndrome ,Autism ,Female ,Comprehension ,Psychology ,Neurocognitive ,030217 neurology & neurosurgery ,050104 developmental & child psychology ,Clinical psychology - Abstract
Although informed consent is critical for all research, there is increased ethical responsibility as individuals with intellectual or developmental disabilities (IDD) become the focus of more clinical trials. This study examined decisional capacity for informed consent to clinical trials in individuals with fragile X syndrome (FXS). Participants were 152 adolescents and adults (80 males, 72 females) with FXS who completed a measure of decisional capacity and a comprehensive battery of neurocognitive and psychiatric measures. Females outperformed males on all aspects of decisional capacity. The ability to understand aspects of the clinical trial had the strongest association with the ability to appreciate and reason about the decision. Scaffolding improved understanding, suggesting researchers can take steps to improve decisional capacity and the informed consent process.
- Published
- 2019
29. A Description of the Educational Setting Among Individuals With Fragile X Syndrome
- Author
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Eric J. Dziuban, Georgina Peacock, Melissa Raspa, Pangaja Paramsothy, Anne Wheeler, Catharine Riley, Rebecca Nash, and Kendra Gilbertson
- Subjects
Male ,Parents ,congenital, hereditary, and neonatal diseases and abnormalities ,Educational measurement ,Activities of daily living ,Adolescent ,education ,Mainstreaming ,Article ,Developmental psychology ,Young Adult ,03 medical and health sciences ,0302 clinical medicine ,Arts and Humanities (miscellaneous) ,Surveys and Questionnaires ,Intellectual disability ,Developmental and Educational Psychology ,medicine ,Humans ,0501 psychology and cognitive sciences ,Functional ability ,Child ,Students ,Schools ,05 social sciences ,Psychosocial Support Systems ,General Medicine ,medicine.disease ,Education of Intellectually Disabled ,Fragile X syndrome ,Psychiatry and Mental health ,Neuropsychology and Physiological Psychology ,Socioeconomic Factors ,Child, Preschool ,Fragile X Syndrome ,Pediatrics, Perinatology and Child Health ,Autism ,Female ,Educational Measurement ,Neurology (clinical) ,Psychology ,Inclusion (education) ,030217 neurology & neurosurgery ,050104 developmental & child psychology - Abstract
Children with fragile X syndrome (FXS) display wide-ranging intellectual and behavioral abilities that affect daily life. We describe the educational setting of students with FXS and assess the relationships between school setting, co-occurring conditions, and functional ability using a national survey sample (n = 982). The majority of students with FXS in this sample have formal individualized education plans, spend part of the day outside regular classrooms, and receive modifications when in a regular classroom. Males with FXS and certain co-occurring conditions (autism, aggression, and self-injurious behavior) are more likely to spend the entire day outside regular classrooms, compared to males without these co-occurring conditions. Students who spend more time in regular classrooms are more likely to perform functional tasks without help.
- Published
- 2019
30. A Voluntary Statewide Newborn Screening Pilot for Spinal Muscular Atrophy: Results from Early Check
- Author
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Beth Boyea, Anne Wheeler, Katherine Charlotte Okoniewski, Holly L. Peay, Scott M. Shone, Katerina S. Kucera, Melissa Raspa, Lisa M. Gehtland, Donald B. Bailey, Kristin Clinard, Catherine Rehder, Veronica R. Robles, Cynthia M. Powell, Martin Duparc, Jennifer L. Taylor, Brooke Migliore, and Zheng Fan
- Subjects
0301 basic medicine ,Pediatrics ,medicine.medical_specialty ,SMN1 ,030105 genetics & heredity ,Article ,03 medical and health sciences ,0302 clinical medicine ,Immunology and Microbiology (miscellaneous) ,medicine ,Screening method ,SMN1 gene ,genetics ,Early onset ,spinal muscular atrophy ,Newborn screening ,business.industry ,newborn screening ,pilot study ,lcsh:RJ1-570 ,Obstetrics and Gynecology ,lcsh:Pediatrics ,Spinal muscular atrophy ,medicine.disease ,SMA ,False-positive result ,Blood Disorder ,Pediatrics, Perinatology and Child Health ,business ,030217 neurology & neurosurgery - Abstract
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 (EC) research study. Here, we describe the EC experience from October 2018 through December 2020. We enrolled a total of 12,065 newborns and identified one newborn with 0 copies of SMN1 and two copies of SMN2, consistent with severe early onset of SMA. We also detected one false positive result, likely stemming from an unrelated blood disorder associated with a low white blood cell count. We evaluated the timing of NBS for babies enrolled prenatally (n = 932) and postnatally (n = 11,133) and reasons for delays in screening and reporting. Although prenatal enrollment led to faster return of results (median = 13 days after birth), results for babies enrolled postnatally were still available within a timeframe (median = 21 days after birth) that allowed the opportunity to receive essential treatment early in life. We evaluated an SMA q-PCR screening method at two separate time points, confirming the robustness of the assay. The pilot project provided important information about SMA screening in anticipation of forthcoming statewide expansion as part of regular NBS.
- Published
- 2021
31. Emergence of Developmental Delay in Infants and Toddlers With an
- Author
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Anne C, Wheeler, Angela, Gwaltney, Melissa, Raspa, Katherine C, Okoniewski, Elizabeth, Berry-Kravis, Kelly N, Botteron, Dejan, Budimirovic, Heather Cody, Hazlett, David, Hessl, Molly, Losh, Gary E, Martin, Susan M, Rivera, Jane E, Roberts, and Donald B, Bailey
- Subjects
Male ,Fragile X Mental Retardation Protein ,Child, Preschool ,Developmental Disabilities ,Mutation ,Humans ,Infant ,Female ,Articles - Abstract
[Figure: see text] BACKGROUND: Children with FMR1 gene expansions are known to experience a range of developmental challenges, including fragile X syndrome. However, little is known about early development and symptom onset, information that is critical to guide earlier identification, more accurate prognoses, and improved treatment options. METHODS: Data from 8 unique studies that used the Mullen Scales of Early Learning to assess children with an FMR1 gene expansion were combined to create a data set of 1178 observations of >500 young children. Linear mixed modeling was used to explore developmental trajectories, symptom onset, and unique developmental profiles of children
- Published
- 2021
32. Barriers and Facilitators to Genetic Service Delivery Models: Scoping Review (Preprint)
- Author
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Melissa Raspa, Rebecca Moultrie, Danielle Toth, and Saira Naim Haque
- Abstract
BACKGROUND Advances in diagnostics testing and treatment of genetic conditions have led to increased demand for genetic services in the United States. At the same time, there is a shortage of genetic services professionals. Thus, understanding the models of service delivery currently in use can help increase access and improve outcomes for individuals identified with genetic conditions. OBJECTIVE This review aims to provide an overview of barriers and facilitators to genetic service delivery models to inform future service delivery. METHODS We conducted a scoping literature review of the evidence to more fully understand barriers and facilitators around the provision of genetic services. RESULTS There were a number of challenges identified, including the limited number of genetics specialists, wait time for appointments, delivery of services by nongenetics providers, reimbursement, and licensure. The ways to address these challenges include the use of health information technology such as telehealth, group genetic counseling, provider-to-provider education, partnership models, and training; expanding genetic provider types; and embedding genetic counselors in clinical settings. CONCLUSIONS The literature review highlighted the need to expand access to genetic services. Ways to expand services include telehealth, technical assistance, and changing staffing models. In addition, using technology to improve knowledge among related professionals can help expand access.
- Published
- 2020
33. Ethical, Legal, and Social Issues Related to the Inclusion of Individuals With Intellectual Disabilities in Electronic Health Record Research: Scoping Review
- Author
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Rebecca Moultrie, Lauren Turner-Brown, Mary Katherine Frisch, Sara Andrews, Laura Wagner, Anne Edwards, Anne Wheeler, and Melissa Raspa
- Subjects
0301 basic medicine ,Best practice ,Internet privacy ,Health Informatics ,Review ,030105 genetics & heredity ,Health records ,privacy ,Social issues ,lcsh:Computer applications to medicine. Medical informatics ,03 medical and health sciences ,Electronic health record ,Informed consent ,Intellectual disability ,medicine ,Humans ,genetics ,health care economics and organizations ,business.industry ,lcsh:Public aspects of medicine ,informed consent ,lcsh:RA1-1270 ,Precision medicine ,medicine.disease ,electronic health records ,030104 developmental biology ,intellectual disability ,lcsh:R858-859.7 ,Return of results ,Psychology ,business ,Ethical Analysis - Abstract
Background Data from electronic health records (EHRs) are increasingly used in the field of genetic research to further precision medicine initiatives. However, many of these efforts exclude individuals with intellectual disabilities, which often stem from genetic conditions. To include this important subpopulation in EHR research, important ethical, legal, and social issues should be considered. Objective The goal of this study was to review prior research to better understand what ethical, legal, and social issues may need further investigation when considering the research use of EHRs for individuals with genetic conditions that may result in intellectual disability. This information will be valuable in developing methods and best practices for involving this group in research given they are considered a vulnerable population that may need special research protections. Methods We conducted a scoping review to examine issues related to the use of EHRs for research purposes and those more broadly associated with genetic research. The initial search yielded a total of 460 unique citations. We used an evaluative coding process to determine relevancy for inclusion. Results This approach resulted in 59 articles in the following areas: informed consent, privacy and security, return of results, and vulnerable populations. The review included several models of garnering informed consent in EHR or genetic research, including tiered or categorical, blanket or general, open, and opt-out models. Second, studies reported on patients’ concerns regarding the privacy and security of EHR or genetic data, such as who has access, type of data use in research, identifiability, and risks associated with privacy breach. The literature on return of research results using biospecimens examined the dissension in the field, particularly when sharing individualized genetic results. Finally, work involving vulnerable populations highlighted special considerations when conducting EHR or genetic research. Conclusions The results frame important questions for researchers to consider when designing EHR studies, which include individuals with intellectual disabilities, including appropriate safeguards and protections.
- Published
- 2020
34. Information and Emotional Support Needs of Families Whose Infant Was Diagnosed With SCID Through Newborn Screening
- Author
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Alissa Huston, Molly Lynch, Brian Fitzek, Katherine Ackerman Porter, Holly L. Peay, Angela Gwaltney, John G Boyle, Melissa Raspa, and Linda Squiers
- Subjects
Male ,Parents ,0301 basic medicine ,lcsh:Immunologic diseases. Allergy ,medicine.medical_specialty ,Emotional support ,information needs ,Immunology ,New materials ,Survey result ,Information needs ,educational materials ,emotional needs ,medically underserved ,03 medical and health sciences ,Neonatal Screening ,0302 clinical medicine ,Resource (project management) ,Surveys and Questionnaires ,medicine ,Humans ,Immunology and Allergy ,Family ,Social media ,Original Research ,Health Services Needs and Demand ,Newborn screening ,newborn screening ,Infant, Newborn ,Psychosocial Support Systems ,Infant ,severe combined immunodeficiency ,United States ,030104 developmental biology ,Family medicine ,Needs assessment ,Female ,parents and families ,Psychology ,lcsh:RC581-607 ,030215 immunology - Abstract
Background: Now that severe combined immune deficiency (SCID) has been added to newborn screening panels in all 50 states in the U.S., there is a need to develop and disseminate well-designed educational materials to parents who need information to make informed decisions about treatment and care for identified infants. SCID Compass was designed to address this gap. We summarize the results of two needs assessment activities for parents—a journey mapping exercise and online survey—which will inform the development of a website and new resources. Methods: We conducted in-depth interviews with seven parents of children with SCID identified through newborn screening. Participants were asked to complete a journey map to describe key timepoints related to SCID, starting at diagnosis through present day. This qualitative information informed an online survey that was completed by 76 parents who had a child with SCID. All participants were from the United States. Results: Analysis of journey maps revealed five distinct stages that parents experience: (1) Diagnosis, (2) Pre-Treatment, (3) Treatment, (4) Post-Treatment, and (5) The New Normal. At each stage, parents described unique emotions, challenges, contextual factors that can make a difference in their experience, and information and resource needs. Survey results indicated the highest-rated information needs for parents were understanding available treatment options and what to expect across the SCID lifespan. Emotional support needs included dealing with uncertainty about child's future and additional opportunities to connect with other families. Parents preferred receiving new materials from their healthcare provider or other families, and preferred materials in print, from social media, or online. Several differences were found among subgroups of parents, including those whose child had been identified through newborn screening as well as those considered medically underserved. Conclusions: Findings about unmet parent needs and informational preferences will serve as the foundation for creating a suite of resources for those who have a child with SCID. The materials will be tailored to specific stages of the journey. By using a family-centered approach, we will help to ensure that the materials designed and developed as part of SCID Compass will be understandable, comprehensive, and useful.
- Published
- 2020
35. Evaluating Sensory Processing in Fragile X Syndrome: Psychometric Analysis of the Brain Body Center Sensory Scales (BBCSS)
- Author
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Melissa Raspa, Jacek Kolacz, Keri J. Heilman, and Stephen W. Porges
- Subjects
Adult ,Male ,medicine.medical_specialty ,Psychometrics ,Sensory processing ,Autism Spectrum Disorder ,medicine.medical_treatment ,media_common.quotation_subject ,Sensation ,Sensory system ,Audiology ,Article ,03 medical and health sciences ,0302 clinical medicine ,Surveys and Questionnaires ,030225 pediatrics ,Perception ,Intellectual disability ,Developmental and Educational Psychology ,medicine ,Humans ,0501 psychology and cognitive sciences ,Registries ,Child ,Aged ,media_common ,Aged, 80 and over ,05 social sciences ,Brain ,Reproducibility of Results ,Middle Aged ,medicine.disease ,Fragile X syndrome ,Caregivers ,Autism spectrum disorder ,Polyvagal Theory ,Fragile X Syndrome ,Sensation Disorders ,Autism ,Female ,Psychology ,050104 developmental & child psychology - Abstract
Individuals with fragile X syndrome (FXS), especially those co-diagnosed with autism spectrum disorder (ASD), face many sensory processing challenges. However, sensory processing measures informed by neurophysiology are lacking. This paper describes the development and psychometric properties of a parent/caregiver report, the Brain-Body Center Sensory Scales (BBCSS), based on Polyvagal Theory. Parents/guardians reported on 333 individuals with FXS, 41% with ASD features. Factor structure using a split-sample exploratory-confirmatory design conformed to neurophysiological predictions. Internal consistency, test-retest, and inter-rater reliability were good to excellent. BBCSS subscales converged with the Sensory Profile and Sensory Experiences Questionnaire. However, data also suggest that BBCSS subscales reflect unique features related to sensory processing. Individuals with FXS and ASD features displayed more sensory challenges on most subscales.
- Published
- 2018
36. Attendance at Fragile X Specialty Clinics: Facilitators and Barriers
- Author
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Anne Wheeler, Renee D. Clark, Amanda Wylie, Holly Usrey-Roos, Sharon A. Kidd, Stephanie L. Sherman, Jessica A. Liu, and Melissa Raspa
- Subjects
Male ,medicine.medical_specialty ,Outpatient Clinics, Hospital ,Adolescent ,Specialty ,Family income ,Logistic regression ,03 medical and health sciences ,0302 clinical medicine ,Arts and Humanities (miscellaneous) ,030225 pediatrics ,Intellectual disability ,Developmental and Educational Psychology ,Humans ,Medicine ,Registries ,030212 general & internal medicine ,Child ,Psychiatry ,Socioeconomic status ,business.industry ,Attendance ,General Medicine ,Patient Acceptance of Health Care ,medicine.disease ,FMR1 ,United States ,Fragile X syndrome ,Self-Help Groups ,Psychiatry and Mental health ,Neuropsychology and Physiological Psychology ,Social Class ,Socioeconomic Factors ,Child, Preschool ,Fragile X Syndrome ,Pediatrics, Perinatology and Child Health ,Female ,Neurology (clinical) ,business ,Demography - Abstract
The objectives were to describe the demographic characteristics of children with Fragile X syndrome (FXS) and to determine predictors of attendance at Fragile X (FX) clinics. Findings from the Community Support Network (CSN) and Our Fragile X World (OFXW) samples showed that children who attended FX Clinics were mostly male, high-school aged or younger, and white, non-Hispanic. Using logistic regression models, awareness about FX Clinic services, guardian education, and income (CSN), and child age, family income, and total number of co-occurring conditions (OFXW) were predictors of clinic attendance. Demographic and child characteristics accounted for a large portion of the explained variance. Importantly, symptom severity and parent knowledge about services were independent predictors beyond the demographic characteristics of families.
- Published
- 2017
37. Public Health Literature Review of Fragile X Syndrome
- Author
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Melissa Raspa, Anne Wheeler, and Catharine Riley
- Subjects
Adult ,Male ,medicine.medical_specialty ,Cross-sectional study ,Developmental Disabilities ,DNA Mutational Analysis ,Psychological intervention ,Article ,Diagnosis, Differential ,Fragile X Mental Retardation Protein ,03 medical and health sciences ,0302 clinical medicine ,Trinucleotide Repeats ,medicine ,Humans ,Language Development Disorders ,0501 psychology and cognitive sciences ,Genetic Testing ,Child ,Psychiatry ,Genetic testing ,Parenting ,medicine.diagnostic_test ,business.industry ,Public health ,05 social sciences ,Cognition ,Prognosis ,medicine.disease ,Fragile X syndrome ,Cross-Sectional Studies ,Phenotype ,Systematic review ,Caregivers ,Fragile X Syndrome ,Pediatrics, Perinatology and Child Health ,Anxiety ,Female ,Public Health ,medicine.symptom ,business ,Delivery of Health Care ,Social Adjustment ,030217 neurology & neurosurgery ,050104 developmental & child psychology - Abstract
OBJECTIVES: 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 used to help inform future public health research and provide pediatricians with up-to-date information about the implications of the condition for individuals and their families. METHODS: An electronic literature search was conducted, guided by a variety of key words. The search focused on 4 areas of both clinical and public health importance: (1) the full mutation phenotype, (2) developmental trajectories across the life span, (3) available interventions and treatments, and (4) impact on the family. A total of 661 articles were examined and 203 were included in the review. RESULTS: The information is presented in the following categories: developmental profile (cognition, language, functional skills, and transition to adulthood), social-emotional profile (cooccurring psychiatric conditions and behavior problems), medical profile (physical features, seizures, sleep, health problems, and physiologic features), treatment and interventions (educational/behavioral, allied health services, and pharmacologic), and impact on the family (family environment and financial impact). Research gaps also are presented. CONCLUSIONS: The identification and treatment of FXS remains an important public health and clinical concern. The information presented in this article provides a more robust understanding of FXS and the impact of this complex condition for pediatricians. Despite a wealth of information about the condition, much work remains to fully support affected individuals and their families.
- Published
- 2017
38. Ethical, Legal, and Social Issues Related to the Inclusion of Individuals With Intellectual Disabilities in Electronic Health Record Research: Scoping Review (Preprint)
- Author
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Melissa Raspa, Rebecca Moultrie, Laura Wagner, Anne Edwards, Sara Andrews, Mary Katherine Frisch, Lauren Turner-Brown, and Anne Wheeler
- Subjects
ComputingMilieux_COMPUTERSANDSOCIETY ,health care economics and organizations - Abstract
BACKGROUND Data from electronic health records (EHRs) are increasingly used in the field of genetic research to further precision medicine initiatives. However, many of these efforts exclude individuals with intellectual disabilities, which often stem from genetic conditions. To include this important subpopulation in EHR research, important ethical, legal, and social issues should be considered. OBJECTIVE The goal of this study was to review prior research to better understand what ethical, legal, and social issues may need further investigation when considering the research use of EHRs for individuals with genetic conditions that may result in intellectual disability. This information will be valuable in developing methods and best practices for involving this group in research given they are considered a vulnerable population that may need special research protections. METHODS We conducted a scoping review to examine issues related to the use of EHRs for research purposes and those more broadly associated with genetic research. The initial search yielded a total of 460 unique citations. We used an evaluative coding process to determine relevancy for inclusion. RESULTS This approach resulted in 59 articles in the following areas: informed consent, privacy and security, return of results, and vulnerable populations. The review included several models of garnering informed consent in EHR or genetic research, including tiered or categorical, blanket or general, open, and opt-out models. Second, studies reported on patients’ concerns regarding the privacy and security of EHR or genetic data, such as who has access, type of data use in research, identifiability, and risks associated with privacy breach. The literature on return of research results using biospecimens examined the dissension in the field, particularly when sharing individualized genetic results. Finally, work involving vulnerable populations highlighted special considerations when conducting EHR or genetic research. CONCLUSIONS The results frame important questions for researchers to consider when designing EHR studies, which include individuals with intellectual disabilities, including appropriate safeguards and protections.
- Published
- 2019
39. Early Check: translational science at the intersection of public health and newborn screening
- Author
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Denise Pettit, Katherine Ackerman Porter, Nancy M. P. King, Scott J. Zimmerman, Rebecca Moultrie, Scott M. Shone, Katherine Charlotte Okoniewski, Jennifer L. Taylor, Barbara B. Biesecker, Holly L. Peay, Christine E. Bishop, Stacey Lee, Lisa M. Gehtland, Melissa Raspa, Megan A. Lewis, Martin Duparc, Blake A. Harper, Donald B. Bailey, Michael Cotten, Ryan S. Paquin, Alex R. Kemper, Cynthia M. Powell, Beth Boyea, and Anne Wheeler
- Subjects
Male ,Newborn screening ,Research program ,medicine.medical_specialty ,Translational science ,Population ,Psychological intervention ,Muscular Atrophy, Spinal ,Translational Research, Biomedical ,03 medical and health sciences ,Study Protocol ,0302 clinical medicine ,Neonatal Screening ,030225 pediatrics ,Outcome Assessment, Health Care ,medicine ,North Carolina ,Humans ,030212 general & internal medicine ,Prospective Studies ,education ,Intersectoral Collaboration ,education.field_of_study ,Internet ,Informed Consent ,business.industry ,Public health ,Health Policy ,Patient Selection ,Translational medicine ,lcsh:RJ1-570 ,Infant, Newborn ,food and beverages ,lcsh:Pediatrics ,3. Good health ,Clinical trial ,Self-Help Groups ,Early Diagnosis ,Risk analysis (engineering) ,Scale (social sciences) ,Fragile X Syndrome ,Pediatrics, Perinatology and Child Health ,Rare disorders ,Female ,Public Health ,business ,Follow-Up Studies ,Program Evaluation - Abstract
Newborn screening (NBS) occupies a unique space at the intersection of translational science and public health. As the only truly population-based public health program in the United States, NBS offers the promise of making the successes of translational medicine available to every infant with a rare disorder that is difficult to diagnose clinically, but for which strong evidence indicates that presymptomatic treatment will substantially improve outcomes. Realistic NBS policy requires data, but rare disorders face a special challenge: Screening cannot be done without supportive data, but adequate data cannot be collected in the absence of large-scale screening. The magnitude and scale of research to provide this expanse of data require working with public health programs, but most do not have the resources or mandate to conduct research. To address this gap, we have established Early Check, a research program in partnership with a state NBS program. Early Check provides the infrastructure needed to identify conditions for which there have been significant advances in treatment potential, but require a large-scale, population-based study to test benefits and risks, demonstrate feasibility, and inform NBS policy. Our goal is to prove the benefits of a program that can, when compared with current models, accelerate understanding of diseases and treatments, reduce the time needed to consider inclusion of appropriate conditions in the standard NBS panel, and accelerate future research on new NBS conditions, including clinical trials for investigational interventions. Clinicaltrials.gov registration # NCT03655223 . Registered on August 31, 2018.
- Published
- 2019
40. Barriers and Facilitators to Genetic Service Delivery Models: Scoping Review
- Author
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Danielle Toth, Melissa Raspa, Saira Haque, and Rebecca Moultrie
- Subjects
Licensure ,Knowledge management ,telehealth ,Health information technology ,Service delivery framework ,business.industry ,genetic services ,Genetic counseling ,Staffing ,rare diseases ,Review ,Telehealth ,General partnership ,genetics ,Business ,Reimbursement - Abstract
Background Advances in diagnostics testing and treatment of genetic conditions have led to increased demand for genetic services in the United States. At the same time, there is a shortage of genetic services professionals. Thus, understanding the models of service delivery currently in use can help increase access and improve outcomes for individuals identified with genetic conditions. Objective This review aims to provide an overview of barriers and facilitators to genetic service delivery models to inform future service delivery. Methods We conducted a scoping literature review of the evidence to more fully understand barriers and facilitators around the provision of genetic services. Results There were a number of challenges identified, including the limited number of genetics specialists, wait time for appointments, delivery of services by nongenetics providers, reimbursement, and licensure. The ways to address these challenges include the use of health information technology such as telehealth, group genetic counseling, provider-to-provider education, partnership models, and training; expanding genetic provider types; and embedding genetic counselors in clinical settings. Conclusions The literature review highlighted the need to expand access to genetic services. Ways to expand services include telehealth, technical assistance, and changing staffing models. In addition, using technology to improve knowledge among related professionals can help expand access.
- Published
- 2021
41. Family Communication and Cascade Testing for Fragile X Syndrome
- Author
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Anne Edwards, Ellen Bishop, Melissa Raspa, Anne Wheeler, and Donald B. Bailey
- Subjects
Adult ,Male ,0301 basic medicine ,congenital, hereditary, and neonatal diseases and abnormalities ,medicine.medical_specialty ,Cascade testing ,Adolescent ,Genetic counseling ,Disclosure ,030105 genetics & heredity ,Young Adult ,03 medical and health sciences ,0302 clinical medicine ,Surveys and Questionnaires ,030225 pediatrics ,medicine ,Humans ,Family ,Genetic Testing ,Young adult ,Child ,Psychiatry ,Genetics (clinical) ,Genetic testing ,medicine.diagnostic_test ,business.industry ,Communication ,Public health ,Extended family ,medicine.disease ,Test (assessment) ,Fragile X syndrome ,Child, Preschool ,Fragile X Syndrome ,Female ,business ,Social psychology - Abstract
A total of 679 families who had at least one child with fragile X syndrome (FXS) were recruited from a research registry to participate in a survey examining cascade testing and communication about FXS. Families had a total of 1117 children (804 males, 313 females). Most families (84 %) had tested all of their children. The main reason for not testing, which did not differ by gender or age of the child, was that the child did not show signs of FXS (68 %). Families talked with their children about FXS occasionally (47 %) although 16 % said they do not talk about it. Most families (66 %) had told their children their FXS status, with males and those with the premutation being less likely to be told test results. Of those that did not, 46 % said that they would tell their child when they were old enough to understand, whereas 34 % had either decided they would not tell or were not sure if or when they were going to tell. About a quarter of respondents (28 %) indicated that no extended family members had been tested, with income and communication about FXS being the strongest predictors. Results from this large scale survey provide important data on how families communicate about FXS and reasons testing is or is not sought. This information can be used by genetic counsellors in providing follow-up to families after a FXS diagnosis.
- Published
- 2016
42. Validity of a condition specific outcome measure for fragile X syndrome: the Aberrant Behaviour Checklist-utility index
- Author
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Ellen Bishop, Sean D. Candrilli, Patricia Sacco, Melissa Raspa, and Jennifer Petrillo
- Subjects
medicine.medical_specialty ,business.industry ,030503 health policy & services ,Rehabilitation ,Construct validity ,Poison control ,Caregiver burden ,medicine.disease ,Mental health ,Occupational safety and health ,Fragile X syndrome ,03 medical and health sciences ,Psychiatry and Mental health ,0302 clinical medicine ,Neurology ,Arts and Humanities (miscellaneous) ,Quality of life ,030225 pediatrics ,Injury prevention ,medicine ,Neurology (clinical) ,0305 other medical science ,Psychiatry ,business ,Clinical psychology - Abstract
BACKGROUND: The purpose of this study was to assess the construct validity of the Aberrant Behaviour Checklist-utility index (ABC-UI) by examining the relationship between healthcare resource utilisation by patients with fragile X syndrome (FXS) as well as burden experienced by their caregivers. METHOD: In 2011, a total of 350 US caregivers of individuals with FXS completed a questionnaire that captured information on FXS-related burden as well as the ABC-Community. Using the ABC-UI, a condition-specific outcome measure derived from the ABC-Community, five utility index categories were created: very low (0.00-0.33); low (0.34-0.66); moderate (0.67-0.77); high (0.78-0.89); and very high (0.90-1.00). Multivariable regression models examined the association between the utility value and nine burden-related outcomes. RESULTS: Approximately 2% of individuals with FXS were in the very low utility index category, 31% low, 27% moderate, 38% high and 3% very high. The median utility value was 0.74. Women with FXS and adults 18 years and older had higher values. Regression results indicate that individuals with higher utility values were more likely to have fewer specialist visits, use fewer prescription medications, need fewer hours of unpaid caregiving, inflict fewer caregiver injuries and have caregivers with fewer mental health provider visits. CONCLUSIONS: The ABC-UI appears to function well as condition-specific outcome measure, and as an indicator of health-related quality-of-life and economic burden in individuals with FXS. Among patients with FXS in the US and their caregivers, significant differences in health care resource utilisation and burden exist across health state utility categories. Language: en
- Published
- 2016
43. Caregiver Preferences for the Treatment of Males with Fragile X Syndrome
- Author
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James T Cross, Jui-Chen Yang, F. Reed Johnson, Judith Dunn, Jorge A. Quiroz, Melissa Raspa, and Donald B. Bailey
- Subjects
Adult ,Male ,congenital, hereditary, and neonatal diseases and abnormalities ,Adolescent ,media_common.quotation_subject ,MEDLINE ,Severity of Illness Index ,Self-Control ,Young Adult ,03 medical and health sciences ,0302 clinical medicine ,030225 pediatrics ,Outcome Assessment, Health Care ,Intellectual disability ,Severity of illness ,Health care ,Developmental and Educational Psychology ,Humans ,Medicine ,Young adult ,Child ,media_common ,business.industry ,Phenotypic trait ,Self-control ,Middle Aged ,medicine.disease ,Self Care ,Fragile X syndrome ,Psychiatry and Mental health ,Caregivers ,Child, Preschool ,Fragile X Syndrome ,Pediatrics, Perinatology and Child Health ,Female ,business ,030217 neurology & neurosurgery ,Clinical psychology - Abstract
Fragile X syndrome (FXS) is the most common inherited form of intellectual disability. The objective of this study was to determine the relative importance that caregivers place on improving different phenotypic traits observed in males with FXS to better understand the greatest medical needs for developing and evaluating FXS treatments.Fragile X syndrome caregivers (n = 614) compared hypothetical treatments in a discrete-choice experiment. The treatments varied in their effects on 6 outcomes associated with FXS: learning and applying new skills, explaining needs, controlling behavior, taking part in new social activities, caring for oneself, and paying attention. The relative importance was calculated for improving severe or moderate levels of disability and transformed to a 10-point scale. Relative importance was also quantified by patient age group (child, adolescent, and adult).Most important to caregivers were controlling behavior (10.0) and caring for oneself (9.9). Least important was taking part in new social activities (4.2). A partial improvement in controlling behavior or self-care was more important than full resolution of the least important disabilities. This was consistent across age groups. Improvements from severe to moderate disability were more important than from moderate to no disability.Caregivers expressed strong preferences for improvement in self-care and behavioral control, independent of the age of the individual with FXS. These data may be helpful when designing studies to test the efficacy of FXS treatments because small treatment effects on very important outcomes may be valued more than large treatment effects on less valued outcomes.
- Published
- 2016
44. Preferences for the research use of electronic health records among young adults with fragile X syndrome or autism spectrum disorder
- Author
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Alexandra Alvarez Rivas, Rebecca Moultrie, Anne Edwards, Melissa Raspa, Marykate Frisch, Sara Andrews, Laura Wagner, Anne Wheeler, and Lauren Turner-Brown
- Subjects
Adult ,Male ,Adolescent ,Autism Spectrum Disorder ,Context (language use) ,Trust ,Affect (psychology) ,Article ,Young Adult ,03 medical and health sciences ,0302 clinical medicine ,Informed consent ,Health care ,medicine ,Electronic Health Records ,Humans ,Disabled Persons ,030212 general & internal medicine ,Qualitative Research ,Informed Consent ,Attitude to Computers ,business.industry ,Public Health, Environmental and Occupational Health ,Patient Preference ,General Medicine ,Focus Groups ,medicine.disease ,Focus group ,Autism spectrum disorder ,Fragile X Syndrome ,Female ,business ,Return of results ,Psychology ,030217 neurology & neurosurgery ,Clinical psychology ,Qualitative research - Abstract
Background Health researchers are increasingly using electronic health records (EHRs) to study the health care needs of people with neurodevelopmental disorders (NDDs). However, little is known about the preferences of people with NDDs for sharing EHRs for research. Objective To explore preferences for sharing EHRs for research among young adults ages 18–40 who make their own legal decisions and who have autism spectrum disorder (ASD), fragile X syndrome (FXS), or no NDDs. Methods We conducted a qualitative study with seven focus groups: 2 ASD groups, 3 FXS groups, and 2 no-NDD groups. We asked participants about factors that could affect their willingness to share their EHRs for research: type of organization, type of information, study purpose, duration, contact frequency, return of results, benefits, and risks. We analyzed the qualitative data using directed content analysis. Results Participants with NDDs valued personally relevant and directly beneficial EHR research. Participants with NDDs expressed willingness to share sensitive data if the study was personally relevant. Most participants wanted to receive results, but only participants with FXS indicated it would affect their willingness to participate. Participants were concerned about privacy risks, discrimination, researcher misconduct, and financial conflicts of interest. Conclusion This study provides initial evidence suggesting that young adults with NDDs prefer EHR research that is personally relevant, benefits themselves and their communities, and is conducted in the context of trusting, reciprocal participant-researcher relationships. The findings point to the need for researchers to improve the informed consent process and to better engage individuals with NDDs in research.
- Published
- 2020
45. Sensory Difficulties in Children With an FMR1 Premutation
- Author
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Keri J. Heilman, Anne Wheeler, Jacek Kolacz, Melissa Raspa, Anne Edwards, Amanda Wylie, and Stephen W. Porges
- Subjects
congenital, hereditary, and neonatal diseases and abnormalities ,Sensory processing ,hyposensitivity ,lcsh:QH426-470 ,medicine.medical_treatment ,feeding behavior ,Sensory system ,Family income ,03 medical and health sciences ,0302 clinical medicine ,030225 pediatrics ,Genetics ,medicine ,Early childhood ,fragile X syndrome ,sensory processing ,Full mutation ,Genetics (clinical) ,business.industry ,medicine.disease ,FMR1 ,Fragile X syndrome ,lcsh:Genetics ,Molecular Medicine ,Autism ,hypersensitivity ,business ,FMR1 premutation ,030217 neurology & neurosurgery ,Clinical psychology - Abstract
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 premutation have shown sensory challenges as early as infancy and into early childhood. This study sought to examine differences in sensory difficulties in children with an FMR1 premutation compared with children with FXS and typically developing children. We conducted an online survey of 176 parents of affected children (FXS or FMR1 premutation). Most respondents were mothers who are Caucasian (86%), have a 4-year college or graduate degree (68%), and are married (92%). Children ranged in age from 5 to 18, with a mean age of 13.0 years (3.3 SD). Participants completed the BBC Sensory Scales, a 50-item Likert-type scale (1 = Almost Always, 4 = Almost Never) comprised of 8 subscales that assessed auditory processing, visual processing, tactile processing, and eating and feeding behaviors. Mean scores were calculated for the items and each of the subscales. Non-parametric tests examined differences in child and family-level variables. Across all BBCSS subscales, children with an FMR1 premutation displayed more sensory challenges than typically developing children. For six out of the eight subscales, children with the full mutation had the lowest scores indicating more sensory challenges, but this was closely followed by children with an FMR1 premutation. Fragile X status was associated with seven of the eight subscales; children with an FMR1 premutation did not differ from children with FXS on any of the subscales but had more digestive problems than children with no fragile X. Gender, autism status, and family income were also related to sensory sensitivities. In conclusion, these data provide further evidence that some children with an FMR1 premutation experience sensory difficulties that are similar to children with FXS but different than typically developing children.
- Published
- 2018
46. A Digital Decision Support Tool to Enhance Decisional Capacity for Clinical Trial Consent: Design and Development (Preprint)
- Author
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Robert D Furberg, Alexa M Ortiz, Rebecca R Moultrie, Melissa Raspa, Anne C Wheeler, Lauren A McCormack, and Donald B Bailey Jr
- Abstract
BACKGROUND Challenges in the clinical and research consent process indicate the need to develop tailored, supportive interventions for all individuals, especially those with limited decisional capacity. We developed a tool to enhance shared decision making and the decisional capacity for individuals with fragile X syndrome engaged in the informed consent process for a clinical trial. OBJECTIVE We describe the design and development process of a tablet-based decision support tool. METHODS Our development process for the decision support tool employed a user-centered, feature-driven design approach. We began with an environmental scan to catalog relevant mobile apps, and we conducted interviews with people with a diagnosis of fragile X syndrome and clinicians at fragile X syndrome clinics. To develop content for the decision support tool, we extracted key concepts and elements from a real clinical trial consent form and rewrote it using plain-language principles. RESULTS We used iterative testing to continuously evaluate and revise the decision support tool content. The tool was finalized in 2016 and contained a series of vignettes, quiz questions, and a sorting activity. A randomized controlled trial was then conducted to compare the efficacy of the decision support tool with a standard verbal presentation of material that mimicked typical informed consent practice. CONCLUSIONS The informed consent process is primed to leverage digital health resources that promote increased understanding and engagement of research participants in the consent and research process. The process and experiences we describe may provide a model for other digital health design and development initiatives seeking to create more interactive and accessible decision support resources. CLINICALTRIAL ClinicalTrials.gov NCT02465931; https://www.clinicaltrials.gov/ct2/show/NCT02465931 (Archived by WebCite at http://www.webcitation.org/6zx2KY9YW)
- Published
- 2018
47. A Digital Health App to Assess Decisional Capacity to Provide Informed Consent: Protocol for a Randomized Controlled Trial (Preprint)
- Author
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Robert D Furberg, Melissa Raspa, Anne C Wheeler, Lauren A McCormack, and Donald B Bailey
- Abstract
BACKGROUND Any study with human subjects must have a robust consent process to ensure that participants understand the study and can decide whether they want to be involved. Investigators must determine whether a potential study participant is able to make an informed decision and what modifications or supports are needed to maximize participation in decision making. A variety of approaches have been used to modify consent forms and the consent process to increase the research participants’ decisional capacity. This protocol describes a randomized controlled trial (RCT) of a digital health app to support decision making among individuals contemplating providing consent to participate in a clinical trial. OBJECTIVE The objective of this RCT will be to determine if the use of a tablet-based app facilitates greater participation in and satisfaction with the consent process compared with standard practice and identify which individual factors are associated with better response to the decision aid. We hypothesize that the tablet-based version of the consent process will promote more informed decision making, including decisions that are more consistent with individual preferences and values expressed during qualitative data collection. METHODS A two-arm RCT will be conducted in a sample of approximately 100 individuals with fragile X syndrome in their homes across the United States. RESULTS Data analysis will be completed by late 2018. CONCLUSIONS By developing and testing a novel consent decision aid, we will have a better understanding of whether and how technological support can optimize the fit between the decisional capacity and the decisional process. CLINICALTRIAL ClinicalTrials.gov NCT02465931; https://clinicaltrials.gov/ct2/show/NCT02465931 (Archived by WebCite at http://www.webcitation.org/72Q3xJQAw) INTERNATIONAL REGISTERED REPOR PRR1-10.2196/10360
- Published
- 2018
48. Clinical models of telehealth in genetics: A regional telegenetics landscape
- Author
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Michele Caggana, Joann Bodurtha, Kunal Sanghavi, Beth Vogel, Melissa Raspa, Luba Djurdjinovic, Amanda Wylie, and Alissa B. Terry
- Subjects
Licensure ,Genetics ,0303 health sciences ,Telemedicine ,Service delivery framework ,Genetic counseling ,030305 genetics & heredity ,Genetic Counseling ,Geneticist ,Telehealth ,computer.software_genre ,03 medical and health sciences ,0302 clinical medicine ,Videoconferencing ,Telephone counseling ,Pregnancy ,030220 oncology & carcinogenesis ,Humans ,Female ,Psychology ,computer ,Genetics (clinical) - Abstract
The use of live video consultations in genetics has been shown to improve patient access with high satisfaction; however, little is known about the current landscape of clinical telehealth models in the field of genetics (i.e., telegenetics). This survey aimed to address that gap across seven states and the District of Columbia. Among 51 self-defined telegenetics programs responding to an online survey, 32 currently utilized live videoconferencing as at least one of their technologies (i.e., were "video-capable"). Analysis of this subgroup revealed that medical institutions were the most common program setting, and prenatal and cancer services were the most common sub-specialty. Forty-seven percent of these programs reported billing insurance for patient care. When exploring measures of patient access among these programs, 56% had a wait time of under 2 weeks, 25% saw more than 50 patients per month, 50% estimated their geographic reach at over 200 miles, and 59% were able to provide remote telegenetics consultations to patients' homes. Professional licensure was reported as the biggest barrier, and patient access and convenience were reported as the largest benefit and success. Among the 19 remaining programs, eight currently active programs exclusively used telephone technology; these were less likely to have a geneticist (p = 0.01), had a shorter wait time (p = 0.04), and had been established for a longer time (p = 0.02) when compared to video-capable programs. Further, two currently active programs indicated the use of store-and-forward telehealth. Finally, nine programs were currently planning their programs, with a focus on video-capable technologies and more varied patient specialties. We observed a diverse landscape of telehealth models being utilized to provide genetic services, and the data demonstrated that these programs are focused on enhancing patient access. Our query about telegenetics drew responses from programs that were not using live videoconferencing technology models, which prompts further exploration, and challenges us to develop consensus around the meaning of "telegenetics." Similarly, our data suggest a need for continued research to assess the equivalency, accessibility, and role of telephone consultations across genetic services. While a multitude of policy factors influence which service delivery models are utilized, further research on these varied approaches, and their associated patient outcomes, is also needed to inform program development.
- Published
- 2018
49. A comparison of functional academic and daily living skills in males with fragile X syndrome with and without autism
- Author
-
Ellen Bishop, Anne Wheeler, Amanda Wylie, Melissa Raspa, Donald B. Bailey, and Vitor Franco
- Subjects
Adult ,Male ,030506 rehabilitation ,Activities of daily living ,Adolescent ,education ,Psychological intervention ,Transportation ,Comorbidity ,behavioral disciplines and activities ,Developmental psychology ,03 medical and health sciences ,Survey methodology ,Young Adult ,Intellectual disability ,Academic Performance ,Activities of Daily Living ,Adaptation, Psychological ,Developmental and Educational Psychology ,medicine ,Humans ,0501 psychology and cognitive sciences ,Cooking ,Autistic Disorder ,Child ,Daily living skills ,Aged ,Laundering ,05 social sciences ,Hygiene ,Middle Aged ,medicine.disease ,Fragile X syndrome ,Clinical Psychology ,Household Work ,Cross-Sectional Studies ,Reading ,Case-Control Studies ,Child, Preschool ,Fragile X Syndrome ,Respondent ,Functional academic skills ,Autism ,Safety ,0305 other medical science ,Psychology ,Independent living ,050104 developmental & child psychology - Abstract
Background Adaptive behaviors, such as functional academic and daily living skills, are critical for independence in adults with intellectual and developmental disabilities. However, little is known about these skills in fragile X syndrome (FXS), the most common form of inherited intellectual disability. Aims The purposes of this study were to describe the functional academic and daily living skills of males diagnosed with FXS across different age groups and compare skill attainment by autism status and other common co-occurring conditions. Methods and procedures We used survey methods to assess parent-reported functional academic and daily living skills in 534 males with FXS. Functional academic skills included time and schedules, money, math, reading, and writing skills. Daily living skills included hygiene, cooking, laundry and housekeeping, transportation, and safety skills. Outcomes and results Analyses examined functional academic and daily living skills in a cross-sectional sample of males between ages 5 and 67. Differences in skill attainment were found by child age, co-morbid autism status, total number of co-occurring conditions, and respondent education. Functional academic and daily living skills were predictive of community employment and independent living. Conclusions and implications These data provide important information on the mastery of both foundational and more complex adaptive skills in males with FXS. Both functional academic and daily living skills were predictive of measures of independence above and beyond other child and family characteristics. These findings point to the need to focus interventions to support the attainment of independence in males with FXS.
- Published
- 2018
50. Promoting Family Outcomes in Early Intervention
- Author
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Melissa Raspa, Amanda Wylie, Donald B. Bailey, and Siobhan Colgan
- Published
- 2017
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