Mother and father with a baby with Down syndrome

UK Human Development Institute Resources Formally Recommended by American Academy of Pediatrics for Families of Infants with Down Syndrome

In a clinical report released on April 18, The American Academy of Pediatrics recommended resources administered by the University of Kentucky Human Development Institute to pediatricians across the nation. These resources are recommended to be distributed by pediatricians to families learning about a prenatal  diagnosis of Down syndrome.

The report directs medical providers to Lettercase: National Center for Prenatal and Postnatal Resources, which has been housed within the Human Development Institute since 2012. Lettercase offers both print and digital resources that provide “accurate, balanced and up-to-date information for new and expectant parents learning about a diagnosis of Down syndrome and other genetic conditions,” according to the program website at lettercase.org.

“The guidelines in this report are really the definitive recommendations for pediatricians,” said Stephanie Meredith, director of Lettercase. “So to be included in that, especially when there are just a handful of resources listed… It’s just a real honor.”

The Lettercase “Understanding a Down Syndrome Diagnosis” book was originally developed in 2008 by Meredith and her husband, Justin. Harold Kleinert, who was, at the time, Human Development Institute Executive Director, was the principal investigator of Brighter Tomorrows, a grant funded through the U.S. Center for Disease Control Cooperative Agreement with the Association of University Centers on Disability (AUCD) to improve physicians’ capacity to provide accurate information to families upon the diagnosis of Down syndrome in their child. Brighter Tomorrows, which is also listed in the American Academy of Pediatrics report as a resource for families, has now merged with Lettercase as one national center.

Meredith and Kleinert had a vision of the societal need they could begin to meet by bringing their resources together. Generally, according to Meredith, grant-funded programs have a natural shelf life, as grants come with finite funding usually dispensed over a set number of years; so while Brighter Tomorrows was initiated through a two-year development grant and a subsequent one-year national dissemination grant Meredith and Kleinert found funding for Lettercase through book sales and various other revenue streams.

“It was kind of this piecemeal hardscrabble program, but we’ve made it flourish,” said Meredith. “It’s been a labor of love for [the Human Development Institute] and the Joseph P. Kennedy, Jr. Foundation to support this program, because it was definitely driven by wanting to meet a need that families have, as opposed to just fulfilling the cut out terms of a grant… We figured out a funding structure because we believed in the purpose of what we were doing.”

The Human Development Institute is part of a nationwide network of University Centers for Excellence. The inclusion of the Human Development Institute in the American Academy of Pediatrics report positions the institute as a leading national resource. For Lettercase resources, click here. For more information on the Human Development Institute, click here.

b/w photo of infant with black hair

HDI to Host Prenatal Disability Education Summit

On May 13, 2022, the National Center for Prenatal and Postnatal Resources, housed at the UK Human Development Institute will host the Prenatal Disability Education Summit at the Residence Inn Baltimore at the Johns Hopkins Medical Campus. This event is sponsored by the Joseph P. Kennedy, Jr. Foundation (JPKF) and will bring together national medical, advocacy, bioethics, industry, and policy leaders to collaboratively identify current challenges and potential solutions in the ethical provision of prenatal screening for disabilities.

Leaders from five national obstetrics, genetics, and pediatrics organizations will meet alongside bioethics experts, industry representatives, academics in disability studies, and leaders from federal agencies and 12 national disability advocacy organizations representing multiple conditions that can be diagnosed prenatally. The event will be held in Baltimore at the Johns Hopkins Medical Campus.

JPKF Trustee, Alex Pender, says, “The Joseph P. Kennedy, Jr. Foundation (JPKF) is thrilled to sponsor and be a part of the Prenatal Disability and Education Summit. For more than 75 years, JPKF has pushed for progress, inclusion, and respect for people with intellectual disabilities. The Foundation has helped inspire and advance a wave of landmark federal legislation providing support and programs for the disability community, including the Community Mental Health Act, the Individuals with Disabilities Education Act, and the Americans with Disabilities Act. This summit is an important step forward to advance the way in which women and families are given a medical diagnosis at the early stages of pregnancy and will be pivotal in how doctors care for the women and children these practices will impact most.”

Stephanie Meredith, the event organizer and the Director of the National Center for Prenatal and Postnatal Resources says this event will be the first of its kind to bring together such a diverse coalition of stakeholders to discuss strategies for making sure that patients undergoing prenatal screening get the support and information they need when learning about disabilities.

Meredith shares that, “Research shows that patients continue to struggle to get information about disabilities that meets their needs at that vulnerable moment when receiving prenatal screening results. They want to know about the medical issues and genetics, but they also want to know what life is like for people living with these conditions and their families. This is particularly vital because people with disabilities are part of a historically marginalized population, so we must make sure discussions about disabilities are based on accurate and up-to-date information without being clouded by stereotypes. And the stakes are high because patients can experience lasting trauma when they don’t receive the information and support that they need.”

Meredith adds, “As prenatal screening efforts increase, we are heading into a looming public health crisis of genetic information without a sufficient infrastructure for patient education and support. That means the work of this interdisciplinary team is essential to ensuring that all stakeholders are working together to meet the needs of vulnerable families and to provide clinicians accurate and up-to-date information and training about disabilities.”

The Summit will:

  • Assess the current state of education about disabilities for expectant parents undergoing prenatal screening.
  • Review collaborative accomplishments since the last Down Syndrome Consensus Meeting in 2008.
  • Establish collaborative goals in the areas of public policy, organizational policies/guidelines, research, and ethical practices for the next decade to ensure that families receive accurate, up-to-date, and balanced information, resources, healthcare, and support they need following a diagnosis or screening results and to help families and clinicians better understand a more up-to-date vision of people living with disabilities.
  • Discuss best practices for building relationships between the disability advocacy and medical communities and discuss strategies for the education and training of medical and genetics professionals to better understand current life outcomes for people with disabilities.
  • Produce a directory of stakeholders who want to continue to work collaboratively on disability education in the prenatal setting

The primary sponsor of the event is the Joseph P. Kennedy, Jr. Foundation, and other vital sponsors include The National Parents First Call Center, a program of the Massachusetts Down Syndrome Congress, Down Syndrome Diagnosis Network, The National Down Syndrome Society, The Trisomy 18 Foundation, Sunflower Neonatology Associates, Case Western Department of Bioethics, and Genetic Support Foundation with support from the Kennedy Krieger Institute at the Johns Hopkins Medical Campus, and the Center for Dignity in Healthcare for People with Disabilities.

Pregnant woman with toddler on a beach

Administration for Community Living funds Center for Dignity in Healthcare for People with Disabilities

The Administration for Community Living has awarded the University of Cincinnati Center for Excellence in Developmental Disabilities a $1.5 million grant to lead eight national partners, including the Human Development Institute (HDI) at the University of Kentucky, and other stakeholders in establishing a Center for Dignity in Healthcare for People with Disabilities (CDHPD). The CDHPD will develop and disseminate protocols to address and prevent healthcare discrimination that can impact Americans with disabilities across the lifespan.

ACL reports that “the Center will develop resources for medical professionals to address and prevent healthcare discrimination, including policies, protocols, and resources. They will also develop resources for reporting healthcare discrimination and advocacy in partnership with people with intellectual and developmental disabilities (I/DD) and their families.” The main areas of focus for the grant will be prenatal screening, organ transplants, mental health, ageing, and end-of-life issues for people with I/DD.

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Six people in a group

The Intersection of Genetics and the Disability Rights Movement

HDI’s Medical Outreach Director, Stephanie Meredith, and colleagues, Dr. Kara Ayers Associate Director of the University of Cincinnati UCEDD; Dr. John Constantino, Director of the Washington University in St. Louis Intellectual and Developmental Disabilities Research Center, Dr. Igna Van den Veyver a leading Maternal Fetal Medicine Specialist from Baylor College of Medicine; Katie Stoll, Executive Director of the Genetic Support Foundation; and Dr. Marsha Michie, an anthropologist from Case Western Reserve University presented on the intersection of disability and genetics at the annual American Society of Human Genetics meeting in Houston, TX on Friday, October 18. This presentation was made possible by ASHG, in collaboration with the Association of University Centers and NICHD.
Approximately 300 medical professionals attended this session that discussed the value of technology, the need to remember the patients at the other end of tests, and the prioritization of our collective humanity. “Nothing About Us Without Us!”, was a core message of this presentation that identified tools and strategies to provide a forum for the voices of people with disabilities and their families, in conversations about genetics and medical practice. The meaningful dialogue focused on how to intentionally include the perspectives of people with genetic conditions (and their families) when creating guidelines and public policy–and to make that happen by acknowledging the painful history of stigmatization and abuse endured by people with disabilities throughout history and then building relationships with the medical community and putting humanity first. Continue reading

Parents with baby with Down syndrome

Fall Research Brief 2019

Adherence of cell-free DNA noninvasive prenatal screens to ACMG recommendations in providing patient education resources
Research Brief by Stephanie Meredith & Mark Leach

Cell-free DNA prenatal screens (also known as NIPS or NIPT) were released in the US by commercial labs eight years ago as screening tests for conditions such as Down syndrome, Trisomy 18, and Trisomy 13. When these screens were originally released in 2011, they were largely covered in the media as non-invasive prenatal diagnostic tests that could detect conditions with a simple blood draw. However, even though cell-free DNA noninvasive prenatal screens are more sensitive than traditional screening tests, there are still chances for false positives and, less often, false negatives. Therefore, they are considered screening tests and are not actually diagnostic (Mozersky, 2012). The introduction of this new technology and some of the confusion surrounding it prompted national medical and genetics societies to issue guidelines about the administration of these screens. Continue reading