Improving Care of Patients with Down Syndrome: The Clinical Impact of an Integrated Lifespan Model

What happens when care for pediatric and adult patients with Down syndrome is connected in one place?

An estimated 400,000 to 600,000 people are living with Down syndrome in the United States. As medical care has advanced, the focus has evolved from survival in childhood to supporting quality of life across the lifespan, and the life expectancy for individuals with Down syndrome has increased from 25 years in 1983 to 60 years today. However, this progress has revealed new long-term challenges, including fragmented care, limited access to specialized providers and growing gaps in support as patients transition into adulthood.

In partnership with the National Down Syndrome Society (NDSS), AdventHealth for Children launched the SMILE with Stella Tremonti Down Syndrome Clinic in 2023 as part of the first and only lifespan down syndrome program in the Southeast. Based in Orlando, Florida, it serves as a comprehensive medical home for children and adults with Down syndrome, providing coordinated care from prenatal diagnosis through adulthood. By connecting services across the continuum, this integrated, lifespan model strengthens access, improves the patient and family experience, and creates opportunities for clinically meaningful discovery that can advance care for this population.

“Down syndrome is becoming more common in terms of numbers and survival,” explains Asef Mahmud, MD, lead physician for the program’s adult care. “Longer life expectancy is a testament to medical progress, and it makes access to specialized care for adults more critical than ever. Our program was designed to close that gap by offering coordinated, lifelong care that evolves alongside each patient’s needs.”

Addressing Fragmentation Across the Lifespan

As individuals with Down syndrome live longer and require increasingly complex care, many patients and families continue to face fragmented systems that can make coordination between providers, specialists and support services difficult.

A nationwide survey commissioned by the National Down Syndrome Society (NDSS) found that half of adults with Down syndrome and their families struggle to find medical providers experienced in caring for this population. One-third reported receiving inadequate guidance when transitioning from pediatric to adult care because of the limited availability of adult providers.

Most primary care physicians encounter few patients with Down syndrome during their careers, limiting familiarity with the multisystem health issues and care coordination needs associated with the condition. At the same time, many patients experience sensory issues, communication barriers and medical anxiety that require additional time, flexibility and support during visits.

“Physicians may only see one or two patients with Down syndrome in their practice,” says Stacy McConkey, MD, medical director over pediatrics at the AdventHealth clinic. “That makes it difficult to build comfort and expertise with the unique medical, developmental and behavioral challenges these patients can experience.”

Gaps in care become especially visible during the transition to adulthood.

“When patients age out of pediatric care, many patients describe it as falling off a cliff,” comments Dr. McConkey.

Dr. Mahmud agrees. “Many adult providers will go their entire career and not see a single patient with Down syndrome,” he explains. “Insurance is an issue. Time is an issue. I think a lot of primary care doctors want to help, but they just don't have the time or resources to deal with the complexity these patients bring to the table. This creates a real void for families.”

Recognizing these challenges, AdventHealth designed its lifespan clinic model to create continuity rather than episodic care, ensuring that patients and families remain connected to specialized support throughout every stage of life.

Building a Lifespan Clinic Model for Coordinated, Whole-Person Care

Led by board-certified physicians specializing in lifelong, primary care for individuals with Down syndrome, the AdventHealth SMILE with Stella Tremonti Down Syndrome Clinic was intentionally designed to bridge gaps from diagnosis through adulthood. Key elements include:

• Prenatal support and care coordination: Beginning at diagnosis in utero, the clinic offers social work support, collaboration with maternal-fetal specialists, parent education, birth planning assistance, referrals and diagnostic coordination.
• Integrated specialty care: Patients receive care from dedicated primary care physicians with expertise in Down syndrome, supported by a multidisciplinary team that includes nurses and registered dietitians. The clinic also maintains strong referral partnerships with speech, occupational, and physical therapists.
• Transition-to-adulthood planning: The clinic helps patients and families navigate guardianship, continuing education and workforce integration.
• Dedicated care coordination: Each family is paired with a dedicated care coordinator who is a licensed social worker and provides support with scheduling, care coordination, specialty referrals, communication and access to community resources. As the mother of a child with Down syndrome, she also brings valuable personal insight and lived experience to her role.

“With our clinic, families know there is a comprehensive program that will care for them throughout their entire journey,” says Dr. Mahmud. “They never have to leave the fold.”

Improving Outcomes Through Continuity and Patient-Centered Care

At the center of AdventHealth’s model is a commitment to treating the patient and family as a unit. Based directly on patient and caregiver feedback, the clinic has adapted both its environment and care delivery approach to better support patient comfort, engagement and long-term outcomes.

Program features include:

• Longer, flexible office visits
• A sensory-adapted care environment
• Proactive screening for conditions more common in this population
• Assistance with communication, daily living skills, employment readiness and social inclusion
• Advocacy and navigation support with specialists, school systems and community resources
• Inpatient coordination and continuity when hospitalization is needed

"Navigating life with a child who has Down syndrome can be overwhelming for parents to do on their own,” explains Dr. McConkey. “These patients require multiple therapies, screenings and specialists. Our role is to connect the dots and hold each family’s hands along the way so that the patient receives comprehensive, coordinated care that supports both their health and their future.”

That continuity is particularly important because individuals with Down syndrome face elevated risks for a wide range of medical conditions across the lifespan. In childhood, this can include congenital heart defects, hearing and vision impairment, thyroid disorders, gastrointestinal disease, sleep apnea and leukemia. In adolescence and adulthood, health challenges evolve to include obesity, diabetes, mental health disorders, early-onset Alzheimer’s disease and dementia.

“The challenge is not treating Down syndrome itself,” comments Dr. McConkey. “It’s recognizing and proactively managing the health patterns that commonly accompany it so patients can remain as healthy and supported as possible throughout their lives.”

As patients with Down syndrome live longer, clinicians are also seeing the emergence of age-related conditions much earlier than in the general population, underscoring the importance of long-term surveillance and coordinated specialty care.

“Medical care for adults with Down syndrome now extends far beyond pediatric interventions,” Dr. Mahmud explains. “We are increasingly focused on chronic disease management, dementia screening and individualized approaches to Alzheimer’s care, which often begins when these patients are still in their 40s.”

This level of continuity improves patient care today and is also generating new clinical insights that may shape the future of Down syndrome care.

Enabling Discovery to Further Enhance Care

As AdventHealth’s lifespan clinic for Down syndrome is maturing, the care team has begun identifying clinical patterns that are opening doors to better ways of caring for these patients.

“Our care model is allowing us to see things differently,” says Dr. McConkey. “When you combine continuity with volume and close patient relationships, patterns become visible that would otherwise be missed.”

Emerging examples of these discoveries include:

• Paroxysmal tonic up gaze, a rare non-epileptic movement disorder characterized by recurring upward eye deviation with preserved horizontal gaze
• Down syndrome regression disorder, a severe condition in which adolescents or young adults with Down syndrome experience sudden loss of previously acquired speech, behavioral or functional skills

Dr. McConkey had a patient whose mom observed unusual eye rolling episodes in her daughter and was concerned it was seizures. A full neurological work-up ruled that cause out. However, after attending a presentation about paroxysmal disorders at a meeting of the Down Syndrome Medical Interest Group (DSMIG), Dr. McConkey made the connection that this could be the cause of her patient’s issue.

“I recognized that this might be paroxysmal tonic up gaze, and I now have four children in my practice of 250 with the same disorder,” comments Dr. McConkey. “The prevalence is supposed to be one in a million. If I was in a traditional pediatric practice, I wouldn't have this many children with Down syndrome, and I wouldn't have uncovered this trend. Volume creates visibility, and visibility enables discovery.”

Dr. McConkey has since submitted her findings for publication and is preparing additional presentations to share observations with the broader Down syndrome clinical community.

Dr. Mahmud has seen similar opportunities emerge in adult care through recognition of Down syndrome regression disorder.

“One of my first patients presented with regression disorder, which remains underrecognized nationally,” he explains. “There is no definitive diagnostic test, and only a handful of centers across the country even treat it.”

Through collaboration with a specialist at Children’s Hospital of Los Angeles, the AdventHealth team has expanded access to evaluation and treatment for affected patients.

“Because we follow these individuals long-term, we can better understand outcomes over time,” Dr. Mahmud says. “That is critical for advancing both care delivery and clinical knowledge.”

Driving Innovation Through Patient and Family Partnership

Beyond identifying rare conditions, the AdventHealth SMILE with Stella Tremonti Down Syndrome Clinic is bridging diagnostic expertise and specialized medical care with practical therapeutic support designed to improve everyday patient experiences and outcomes.

Through its Patient and Family Experience Council, AdventHealth is partnering directly with families to identify barriers and co-develop solutions. Current initiatives include evidence-based strategies designed to improve tolerance of routine but often challenging activities such as toothbrushing, echocardiograms and lab draws. The care team is integrating occupational therapy and applied behavioral analysis to help reduce fear and improve patient acceptance and compliance.

“We want to make routine care less stressful and more successful for patients and their families,” comments Dr. McConkey. “If we can reduce medical fear early in life, we can improve adherence and support healthier long-term outcomes. Our model helps sustain engagement and build trust to makes these insights and improvements possible.”

Advancing Knowledge Through Collaboration and Education
In addition to the advisory council, outside partnerships remain central to the clinic’s continued growth and impact. AdventHealth collaborates closely with several key organizations, including:

• Down Syndrome Medical Interest Group (DSMIG) and Project ECHO
• DS-Connect: The Down Syndrome Registry
• Global Down Syndrome Foundation
• National Down Syndrome Society
• National Down Syndrome Congress
• Down Syndrome Association of Central Florida

Dr. McConkey and Dr. Mahmud also regularly share clinical insights through lectures, grand rounds and educational programs across AdventHealth and the Down syndrome community.

Helping Individuals with Down Syndrome Feel Whole

AdventHealth’s lifespan Down syndrome clinic was built on a commitment to whole-person care. However, it has evolved into something more: a true community of lifelong support and a dynamic environment for better understanding and improving the care of people with Down syndrome.

“Continuity, concentration and coordination lead to better care for our patients,” says Dr. Mahmud.

Dr. McConkey agrees. “Families in the Down syndrome community are deeply connected and incredibly supportive of one another,” she says. “We are committed to continuing to learn alongside them so we can keep advancing care, improving quality of life and helping every patient feel fully supported.”