monosomy X Archives

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The best of 2023 from Innovation District

December 27, 2023

2023 with a lightbulb Advanced MRI visualization techniques to follow blood flow in the hearts of cardiac patients. Gene therapy for pediatric patients with Duchenne muscular dystrophy. 3D-printed casts for treating clubfoot. These were among the most popular articles we published on Innovation District in 2023. Read on for our full list.

1. Advanced MRI hopes to improve outcomes for Fontan cardiac patients

Cardiac imaging specialists and cardiac surgeons at Children’s National Hospital are applying advanced magnetic resonance imaging visualization techniques to understand the intricacies of blood flow within the heart chambers of children with single ventricle heart defects like hypoplastic left heart syndrome. The data allows surgeons to make critical corrections to the atrioventricular valve before a child undergoes the single ventricle procedure known as the Fontan.
(3 min. read)

2. Children’s National gives first commercial dose of new FDA-approved gene therapy for Duchenne muscular dystrophy

Children’s National Hospital became the first pediatric hospital to administer a commercial dose of Elevidys (delandistrogene moxeparvovec-rokl), the first gene therapy for the treatment of pediatric patients with Duchenne muscular dystrophy (DMD). Elevidys is a one-time intravenous gene therapy that aims to delay or halt the progression of DMD by delivering a modified, functional version of dystrophin to muscle cells.
(2 min. read)

3. New model to treat Becker Muscular Dystrophy

Researchers at Children’s National Hospital developed a pre-clinical model to test drugs and therapies for Becker Muscular Dystrophy (BMD), a debilitating neuromuscular disease that is growing in numbers and lacks treatment options. The work provides scientists with a much-needed method to identify, develop and de-risk drugs for patients with BMD.
(2 min. read)

4. First infants in the U.S. with specially modified pacemakers show excellent early outcomes

In 2022, five newborns with life-threatening congenital heart disease affecting their heart rhythms were the first in the United States to receive a novel modified pacemaker generator to stabilize their heart rhythms within days of birth. Two of the five cases were cared for at Children’s National Hospital. In a follow-up article, the team at Children’s National shared that “early post-operative performance of this device has been excellent.”
(2 min. read)

5. AI: The “single greatest tool” for improving access to pediatric healthcare

Experts from the Food and Drug Administration, Pfizer, Oracle Health, NVIDIA, AWS Health and elsewhere came together to discuss how pediatric specialties can use AI to provide medical care to kids more efficiently, more quickly and more effectively at the inaugural symposium on AI in Pediatric Health and Rare Diseases, hosted by Children’s National Hospital and the Fralin Biomedical Research Institute at Virginia Tech.
(3 min. read)

6. AAP names Children’s National gun violence study one of the most influential articles ever published

The American Academy of Pediatrics (AAP) named a 2019 study led by clinician-researchers at Children’s National Hospital one of the 12 most influential Pediatric Emergency Medicine articles ever published in the journal Pediatrics. The findings showed that states with stricter gun laws and laws requiring universal background checks for gun purchases had lower firearm-related pediatric mortality rates but that more investigation was needed to better understand the impact of firearm legislation on pediatric mortality.
(2 min. read)

7. Why a colorectal transition program matters

Children’s National Hospital recently welcomed pediatric and adult colorectal surgeon Erin Teeple, M.D., to the Division of Colorectal and Pelvic Reconstruction. Dr. Teeple is the only person in the United States who is board-certified as both a pediatric surgeon and adult colorectal surgeon, uniquely positioning her to care for people with both acquired and congenital colorectal disease and help them transition from pediatric care to adult caregivers.
(3 min. read)

8. First-of-its-kind holistic program for managing pain in sickle cell disease

The sickle cell team at Children’s National Hospital received a grant from the Founders Auxiliary Board to launch a first-of-its-kind, personalized holistic transformative program for the management of pain in sickle cell disease. The clinic uses an inter-disciplinary approach of hematology, psychology, psychiatry, anesthesiology/pain medicine, acupuncture, mindfulness, relaxation and aromatherapy services.
(3 min read)

9. Recommendations for management of positive monosomy X on cell-free DNA screening

Non-invasive prenatal testing using cell-free DNA (cfDNA) is currently offered to all pregnant women regardless of the fetal risk. In a study published in the American Journal of Obstetrics and Gynecology, researchers from Children’s National Hospital provided context and expert recommendations for maternal and fetal evaluation and management when cfDNA screening is positive for monosomy X or Turner Syndrome.
(2 min. read)

10. Innovation in clubfoot management using 3D anatomical mapping

While clubfoot is relatively common and the treatment is highly successful, the weekly visits required for Ponseti casting can be a significant burden on families. Researchers at Children’s National Hospital are looking for a way to relieve that burden with a new study that could eliminate the weekly visits with a series of 3D-printed casts that families can switch out at home.
(1 min. read)

11. Gender Self-Report seeks to capture the gender spectrum for broad research applications

A new validated self-report tool provides researchers with a way to characterize the gender of research participants beyond their binary designated sex at birth. The multi-dimensional Gender Self-Report, developed using a community-driven approach and then scientifically validated, was outlined in a peer-reviewed article in the American Psychologist, a journal of the American Psychological Association.
(2 min. read)

12. Cardiovascular and bone diseases in chronic kidney disease

In a study published by Advances in Chronic Kidney Disease, a team at Children’s National Hospital reviewed cardiovascular and bone diseases in chronic kidney disease and end-stage kidney disease patients with a focus on pediatric issues and concerns.
(1 min. read)

Recommendations for management of positive monosomy X on cell-free DNA screening

February 15, 2023

In a study published in the American Journal of Obstetrics and Gynecology, researchers provide context and expert recommendations for maternal and fetal evaluation and management when cfDNA screening is positive for monosomy X or Turner Syndrome (TS).

Non-invasive prenatal testing (NIPT) using cell-free DNA (cfDNA) is currently offered to all pregnant women regardless of the fetal risk. While this test has excellent value to screen for chromosomal abnormalities such as Down syndrome, the test has a much lower positive predictive value for sex-chromosome abnormalities such as Turner syndrome. In a study published in the American Journal of Obstetrics and Gynecology, researchers provide context and expert recommendations for maternal and fetal evaluation and management when cfDNA screening is positive for monosomy X or Turner Syndrome (TS).

The manuscript was put together by the Turner Syndrome Special Interest Group (TS SIG) of the Pediatric Endocrine Society, chaired by Roopa Kanakatti Shankar, M.D., endocrinologist at Children’s National Hospital, along with other specialists including a gynecologist, maternal fetal medicine expert, cardiologists and pediatric endocrinologists.

The big picture

The field of NIPT using cfDNA testing has advanced considerably making it routine in the care of pregnant women and more couples are opting for it. This will lead to an increased detection of monosomy X overall — some of which may be true positives, but others may be false positives, or even an indicator of maternal TS rather than an affected fetus. This article discusses the changing landscape and provides an expert opinion on how to manage these scenarios.

How does this work move the field forward?

“We hope that this will increase provider knowledge and recognition of the pitfalls of NIPT as a screening test for sex-chromosome disorders such as monosomy X,” says Dr. Kanakatti Shankar. “It will also provide a framework for the next diagnostic steps, management and referrals that a provider may take to optimize care for both mother and child.”

How is Children’s National leading in this space?

Current guidelines for the care of individuals with TS throughout the lifespan do not specifically address management of individuals with a cell-free DNA screen positive for monosomy X.

“As chair of the TS Special Interest Group, I was able to lead this unique collaborative effort which we hope will lead to better understanding of NIPT results in the context of TS and for multispecialty providers to improve prenatal detection and timely care,” says Dr. Kanakatti Shankar.

Raising awareness about Turner Syndrome

February 10, 2021

Gracie Popielarcheck was diagnosed at age one with Turner Syndrome.

By Roopa Kanakatti Shankar, M.D., M.S., Director of the Turner Syndrome Program at Children’s National Hospital.

The Children’s National Turner Syndrome Clinic is part of the Division of Endocrinology and Diabetes which is ranked by U.S. News & World Report as one of the top 10 programs in the nation. The clinic opened in January 2019 and is the first of its kind in the Washington, D.C., region. A multidisciplinary clinic is held once a month with a team experts in cardiology, endocrinology, psychology, gynecology and genetics to help care for the needs of patients with Turner Syndrome all in one day. The referral network of specialties includes neuropsychology, otolaryngology, audiology, orthopedics, urology and dentistry.

Turner syndrome (TS) is a rare disease affecting girls, with a prevalence of around 25-50 out of every 100,000 females. It is caused by partial or complete loss of the second sex chromosome. This affects multiple organs and can cause heart defects, skeletal abnormalities, hearing loss and learning difficulties. It also affects growth and puberty and can cause infertility. Although the condition was first described in 1938 by Henry Turner, an endocrinologist from Oklahoma, and is well characterized, there is a significant delay in diagnosis and recognition of the condition, especially in milder forms that can still significantly impact the well-being of the individual.

“Having a Turner Syndrome clinic near our city has made life so much easier,” says Gracie’s mom, Leslie Popielarcheck. “We can see all of Gracie’s specialists all in one day and under one roof.”

Families often ask why it took so long to recognize this condition. Many findings can be subtle, the presentation can vary greatly and often short stature may be overlooked in some girls. We now recognize that the classic form (monosomy X) impacts less than half of the girls and the rest have mosaicism (45,X/ 46XX) or other structural abnormalities in the X-chromosome. Recognizing features beyond the classic “short stature, neck webbing, lymphedema and cardiac defects” is indeed important to get timely care for these girls and women across the lifespan. Many have recurrent ear infections and hearing loss. Most have a normal intelligence, and even superior verbal skills but face challenges in visual spatial perception, executive function, working memory and social cognition that impact academic achievement.

13-year-old Gracie Popielarcheck was diagnosed with TS at the age of one after her parents noticed a delay in her speech and development. “We had never heard of Turner Syndrome when Gracie was diagnosed,” says Leslie Popielarcheck, Gracie’s mom. “Gracie didn’t have the classic physical features that girls with Turner Syndrome are known to have.”

With support, most of these girls and women can manage the medical and psychosocial challenges and rise to their full potential. Advances in the field and multidisciplinary care models have helped in the establishment of TS clinics across the country that strive to improve the standard care for these girls.

However, several challenges remain:

Improving awareness among primary care physicians in regard to the extended spectrum and variability of presentation at a wide variety of ages
Decreasing health disparities and making multidisciplinary clinics and comprehensive care available and accessible even to disadvantaged communities
Ensuring adequate medical and social support for transition of young adults and care of adults with Turner syndrome

Gracie P., Kyra Dorfman with Dr. Shankar

Kyra Dorfman, Dr. Shankar and Gracie.

Our TS program, initiated 2 years ago, aims to overcome these challenges and provide care to families impacted by TS in our community. We strive to serve as a Regional Resource for the community as well as physicians in our community and have been recognized by the TSGA (Turner syndrome Global Alliance) as one of only nine clinics nationwide with a Level 4 designation.

“Having a Turner Syndrome clinic near our city has made life so much easier,” Popielarcheck says. “We can see all of Gracie’s specialists all in one day and under one roof.”

As we highlight these resources for the Turner Syndrome Awareness Month this February 2021, and celebrate the strength and tenacity of our beautiful girls, we hope our efforts will improve recognition of the condition and delivery of comprehensive medical care and support to the community we serve.