Adults With Both Down Syndrome And Congenital Heart Defects Show Remarkable Resilience

Adults pinch some Down Syndrome and congenital bosom defects, besides known arsenic congenital bosom illness (CHD), are showing singular resilience contempt facing important aesculapian challenges, according to a caller MUSC study successful Pediatric Cardiology. The study recovered that adults ages 18 to 45 pinch some conditions are conscionable arsenic apt to work, unpaid and acquisition nan aforesaid value of life arsenic those pinch Down Syndrome alone. 

The study was conducted done nan Pediatric Heart Network, a consortium of starring children's hospitals that includes nan MUSC Shawn Jenkins Children's Hospital. The web conducts investigation successful children and adults surviving pinch CHD. Andrew Atz, M.D., professor and president of Pediatrics astatine MUSC, is nan elder writer connected nan study and a main interrogator for nan Pediatric Heart Network.

Understanding Down syndrome and CHD

Down syndrome is simply a familial information caused by an other transcript of chromosome 21. This other chromosome affects really nan assemblage and encephalon develop. Down syndrome is nan astir communal familial origin of intelligence disablement successful nan U.S. 

Congenital bosom illness is simply a superior wellness rumor that affects astir half of group pinch Down syndrome. It occurs erstwhile location is simply a defect successful really nan bosom aliases humor vessels are formed astatine birth.

For galore families, it's difficult to cognize what life will look for illustration for children pinch some conditions. 

I deliberation group want to know, 'When my kid grows up, will they unrecorded a normal life? Will they person a bully life, a happy, a productive life?' I deliberation those are things that really matter a batch to people."

Stephanie Gaydos, M.D., subordinate professor of pediatrics and lead interrogator connected nan study

To reply those questions, Gaydos designed her study to return a deeper look. She aimed to find retired if adults surviving pinch a dual test of Down syndrome and CHD had greater difficulties pinch their day-to-day lives than those pinch a test of Down Syndrome alone. Gaydos, Atz and their squad besides looked astatine different important wellness issues that hap much commonly successful group pinch CHD aliases group pinch Down syndrome, for illustration intelligence wellness problems aliases neurologic disorders specified arsenic seizures and/or stroke, which tin impact value of life and employment abilities.

The study included 287 adults pinch Down syndrome, 104 of whom besides had CHD, and their caregivers. Participants were invited to complete a broad online questionnaire that assessed aesculapian history, employment/volunteer experience, value of life, intelligence wellness and caregiver burden. Researchers past compared nan results between participants pinch and without CHD. The questionnaire was created and administered utilizing REDCap, a secure, web-based package level developed astatine Vanderbilt University to support information seizure for investigation studies, pinch nan thief of nan REDCap squad astatine the South Carolina Clinical & Translational Research Institute.

Good news for patients and their families

Gaydos and her squad were heartened by nan study's findings.

"Is community engagement or quality of life worse successful adulthood if you besides person congenital bosom disease?" Gaydos asked. "In our sample, we didn't find that to beryllium nan case, which is fantastic."

The researchers recovered that having some Down syndrome and CHD doesn't clasp group backmost from participatingin their communities. Adults pinch nan dual test are statistically conscionable arsenic apt to clasp jobs arsenic those pinch only Down syndrome and reported more volunteer participation – contempt having much neurologic problems. This accusation sheds ray connected really these wellness issues construe into adult-life functioning and besides challenges long-held assumptions to connection a hopeful outlook for families and attraction providers. 

Adults pinch Down syndrome and CHD showed astir identical employment rates arsenic those without CHD, astatine 61% and 60%, respectively. Rates of volunteerism were moreover much striking – 32% of participants pinch Down syndrome and CHD volunteered successful their communities, compared pinch 19% of participants pinch conscionable Down syndrome. 

Laying nan groundwork for early research

For Gaydos and Atz, this investigation is conscionable nan beginning. They spot this activity arsenic a instauration for building a deeper knowing of life pinch these conditions and tailoring aesculapian attraction to support semipermanent occurrence much fully.

"We deliberation it's a really optimistic uncovering for patients and their families, for children who are calved pinch some of these wellness issues," said Gaydos. "Having a bosom defect from birth positive Down syndrome doesn't needfully mean that you'll beryllium astatine little likelihood for having a productive role successful nan organization successful adulthood."