Assessment & Research

Mitral valve prolapse in persons with Down syndrome.

Pueschel et al. (1994) · Research in developmental disabilities 1994
★ The Verdict

Nearly half of home-reared adults with Down syndrome have silent mitral valve prolapse, so BCBAs should build cardiac safety into session plans.

✓ Read this if BCBAs serving teens or adults with Down syndrome in day or residential programs.
✗ Skip if Clinicians working only with young children who already receive cardiology care.

01Research in Context

01

What this study did

Doctors gave heart ultrasounds to 36 adults with Down syndrome.

All lived at home and were between 20 and 32 years old.

The team counted how many hearts showed mitral valve prolapse.

02

What they found

More than half had abnormal scans.

Forty-four percent showed the floppy valve called prolapse.

None had been flagged before, so the problems were silent.

03

How this fits with other research

Hickey et al. (2025) later tracked 2,321 Coloradans with Down syndrome.

They found over half needed heart surgery, updating the 1994 count to today’s bigger caseload.

Ghaziuddin et al. (1996) pooled many studies and told clinics to screen all clients with Down syndrome for heart trouble.

The 1994 numbers now sit inside that wider warning.

Stancliffe et al. (2007) add a darker note: adults living at home die more often from cardiac causes, so catching valve issues early matters.

04

Why it matters

You may work with adults who look healthy yet carry hidden heart strain.

Add cardiac red flags to your intake checklist.

Watch stamina, breathing, and color change during sessions.

Prompt families to share echo results and schedule follow-ups.

Keeping the heart safe keeps the client ready to learn.

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→ Action — try this Monday

Add one question about recent heart ultrasound results to your intake form and note any activity restrictions before running physical programs.

02At a glance

Intervention
not applicable
Design
case series
Sample size
36
Population
down syndrome
Finding
not reported

03Original abstract

This study was designed to determine the prevalence of mitral valve prolapse and aortic insufficiency in home-reared, young persons with Down syndrome. Of the 36 individuals (ages 20-32 years) enrolled in this study, 20 had abnormal echocardiographic findings. Thirteen patients had mitral valve prolapse, 3 had both mitral valve prolapse and aortic insufficiency, 2 had only aortic insufficiency, and 2 had other mitral valve disorders. In 14 of the 16 patients with mitral valve prolapse, a midsystolic click was heard. Theories of the pathogenesis and possible complications of mitral valve prolapse and its relationship to exercise and sport activities are discussed.

Research in developmental disabilities, 1994 · doi:10.1016/0891-4222(94)90015-9