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Coordinated Health Teams May Help Improve Outcomes For Children With ...

A coordinated, multidisciplinary health care team to address the specific physical, psychological and developmental needs of children with Trisomy 21, or Down syndrome, and congenital heart disease may help children with these conditions lead longer and more productive lives, according to a new scientific statement from the American Heart Association.

The scientific statement, "Trisomy 21 and Congenital Heart Disease: Impact on Health and Functional Outcomes from Birth Through Adolescence," published today in the Journal of the American Heart Association, an open-access, peer-reviewed journal of the Association.

Statement highlights include:

Trisomy 21, also known as Down syndrome, is a genetic condition that occurs when a person has an extra copy of chromosome 21. According to the American Heart Association's 2018 scientific statement on the genetic basis for congenital heart disease, Down syndrome is the most common chromosome abnormality, with approximately 5,300 infants born with Down syndrome in the U.S. Each year. About 35-50% of children with Down syndrome are also affected by congenital heart disease.

Around 70% of congenital heart disease conditions in children with Down syndrome present as some type of atrial septal defect or ventricular septal defect of the heart, often referred to as "a hole in the heart."

Pulmonary hypertension and single ventricle heart disease are two known cardiovascular conditions that may reduce life expectancy in individuals with Down syndrome.

Conditions affecting other body systems, including respiratory, endocrine, gastrointestinal, hematological, neurological and sensory systems, may interact with cardiovascular health concerns and lead to adverse effects for children with congenital heart disease and Down syndrome.

Improvements in diagnostic, medical and surgical interventions for cardiovascular disease over the past several decades have resulted in greatly improved survival for infants and children with congenital heart disease including those with Down syndrome. Current research on survival in children with congenital heart disease indicates that more than 97% of children with congenital heart disease can be expected to reach adulthood, highlighting the need for multidisciplinary care throughout their lifetime.

Neurodevelopmental and functional challenges may affect quality of life for children with Down syndrome and congenital heart disease. About 75% of children with these conditions experience feeding and swallowing problems as infants, increasing the risk of malnutrition and failure to thrive, which would affect physical and neurologic development. They also often face lifelong respiratory problems and hypothyroidism (an underactive thyroid; the thyroid produces important hormones that help regulate many functions in the body).

Vision and hearing impairments (sensory processing disorders) are also common among children with Down syndrome and may impact development of language and communication, as well as cognitive and social behavior skills.

Psychological conditions, including autism spectrum disorder, attention deficit/hyperactivity disorder, anxiety and depression, are also common in children with Down syndrome as well as children with congenital heart disease.

Social determinants of health may affect outcomes in children with Down syndrome and congenital heart disease because intellectual limitations and chronic health conditions often contribute to discrimination, bias, inequity, education and socioeconomic status.

Physical, occupational, speech and behavioral therapies are integral in health care plans for children with Down syndrome and congenital heart disease. Early speech intervention is important to improve communication and autonomy, while physical and occupational therapy are focused on strengthening gross and fine motor skills, increasing independence in activities of daily living, and supporting social skills and sensory integration.

A comprehensive "medical home" with primary and specialty care that includes a multidisciplinary team of professionals is advised to support care continuity, family-centered care and advocacy. Effective care coordination improves health care access and reduces delays in care, hospitalizations and health care costs. It can also result in enhanced care satisfaction and improvements in overall health outcomes.

With appropriate support and resources from the multidisciplinary care team, community, school and family, children with Down syndrome and congenital heart disease have opportunities to live fulfilling and productive lives with independence. It is important that the transition to adulthood includes assessment of their needs, skills and decision-making capacity.

Future research focused on reducing the burden of these conditions is needed to improve functional outcomes and quality of life for children with Down syndrome and congenital heart disease.

The statement was written on behalf of the American Heart Association's Pediatric Cardiovascular Nursing Committee of the Council on Cardiovascular and Stroke Nursing, the Council on Clinical Cardiology, the Council on Genomic and Precision Medicine, and the Council on Cardiovascular Radiology and Intervention. American Heart Association scientific statements promote greater awareness about cardiovascular diseases and help facilitate informed health care decisions. Scientific statements outline what is currently known about a topic and what areas need additional research. While scientific statements inform the development of guidelines, they do not make treatment recommendations.

Source:

Journal reference:

Peterson, J. K., et al. (2024). Trisomy 21 and Congenital Heart Disease: Impact on Health and Functional Outcomes From Birth Through Adolescence: A Scientific Statement From the American Heart Association. Journal of the American Heart Association. Doi.Org/10.1161/jaha.124.036214.

Mom Had Three Kids With Down Syndrome, Discovers She Has It Too (Exclusive)

A mom of three discovered that she shares more than just DNA with her three kids — she shares their specific genetic mutation, too.

TikTok creator Ashley Zambelli, 23, went viral after she discovered that not only would she be having a third baby with trisomy 21 — also known as Down syndrome — but she herself had tested positive for the mutation. In a series of videos posted to her TikTok account, the mom of three shared her shocked reaction.

In one video, Zambelli writes, "My geneticist SHOCKED I'm having a baby with trisomy 21 for the 3rd time."

Across her videos, Zambelli shares that she has three children, two of whom have tested positive for trisomy 21. Zambelli experienced a pregnancy loss with a third baby who also tested positive for the mutation. When her geneticist noticed that she was having so many babies with this specific genetic mutation, Zambelli was prompted to get tested herself.

"Finding out I was pregnant with another baby that has trisomy 21 was definitely a shock to all of us," Zambelli tells PEOPLE exclusively. "It's not unheard of to conceive one to two since Down syndrome is, as far as we know, usually caused by a random failed separation of chromosomes during mitosis. But to have more than one or two? That's when this might not be a 'random' mutation."

Zambelli is mom to three young girls, Lillian, Evelyn, and Katherine.

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"Our oldest daughter Lillian has trisomy 21 and we can't wait to see [her and her sibling] grow up together, including our second daughter, Evelyn, who does not have Down syndrome. We are also very excited to see the person Evelyn grows to become since there's just something special about having siblings with Down syndrome."

Asked what inspired her to get herself genetically tested, Zambelli explains that it was actually her OB/GYN that came up with the idea. "She is the one who informed me that it's pretty rare to conceive a child with Down syndrome three times and wrote me a referral to a geneticist to see if I had a chromosomal abnormality."

Once Zambelli was tested, it came back positive for mosaic Down syndrome, or trisomy 21 mosaicism/mosaic trisomy 21.

According to the Stanford Children's Hospital, this form of Down syndrome is diagnosed when there's a mixture of two types of cells. Some have the usual 46 chromosomes and some have 47, which are the ones with the extra chromosome 21 that defines trisomy 21. Although this can cause babies born with mosaic Down syndrome to have similar features to babies with Down syndrome, it is also possible to have few features.

"When I got the call [with the diagnosis], I was happy! I've always had some miscellaneous complications throughout my life that never made sense to doctors, but now they do," Zambelli tells PEOPLE.

Although her kids are too young to understand their diagnoses, her friends and family were happy and supportive of Zambelli. "My friends and family were very surprised with my diagnosis...Everyone was very happy for me and supportive."

In her TikTok videos, Zambelli strives to create an educational platform where she can spread awareness about the genetic mutation. "TikTok has been such an amazing community to be in for spreading awareness of Down syndrome and the three forms of it — trisomy 21, mosaic, and translocation," she says. "All I can do is present the facts, keep spreading awareness, and hope to see a change."

As for the hardest part of her journey? "Encountering some people within the Down syndrome community. There have been a few who do not take me seriously and make me feel as if I need to prove my condition to them," the mom revealed.

"The stigma around Down syndrome unfortunately exists in our own community. I'm hoping that will change soon for the better."

Jake Burger To Wear No. 21 With Texas Rangers To Raise Awareness For ...

Miami Marlins' Jake Burger watches his RBI double before being caught trying to stretch it into a triple during seventh-inning baseball game action against the Toronto Blue Jays in Toronto, Friday, Sept. 27, 2024.

ARLINGTON — New Texas Rangers first baseman Jake Burger has yet to take an at-bat for the club, but appears ready to make an immediate impact.

In the community.

Ahead of the club's winter banquet, Burger on Friday announced that he would wear No. 21 with the Rangers this season to raise awareness about Down Syndrome, the genetic condition with which his daughter, Penelope, was born in October. Down Syndrome is also known as Trisomy 21, a repetition of the 21st chromosome. Burger said he and wife Ashlyn are expected to announce a foundation for Trisomy 21 research and support in the near future.

Related:10 things to know about Jake Burger, the Texas Rangers' newest marketable slugger

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"This was the first time I could pick a number that was not just near and dear to my heart, but to a lot of other people's heart," said Burger, who wore No. 36 with Miami last year before the Rangers acquired him. "For me, it's trying to spread awareness and get the word out about Down Syndrome. I'm really proud of this number, and really excited to wear it to represent my daughter and so many other people out there."

Ashlynn Burger gave birth to Penelope on Oct. 25, but the couple had been aware of the diagnosis since April. Penelope has done well, but is still facing an open heart surgical procedure in late February in Nashville. Burger is expected to leave the Rangers for several days in the early stages of spring training to be present for the surgery. The couple also has a two-year old son, Brooks.

"For a lot of Down syndrome babies, there's a lot of medical things that can go wrong," Burger said. "We were really fortunate. We thought she was going to have to have surgery right out of the womb, but thank God, for reaching out and touching her and giving her a chance to [get stronger]. She still has something wrong with her heart and is going to have open heart surgery. But she's strongest little person I know, and I know she's going to get through that with the breeze."

The Rangers have had 44 different players to wear the number 21 in franchise history, dating back to Washington days. Jared Walsh and then Jonathan Ornelas both wore the number in 2024. Perhaps the most notable Ranger to wear it previously was Ruben Sierra, a native of Puerto Rico. Puerto Rican legend Roberto Clemente wore 21 throughout his Hall of Fame career.

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Evan has covered the Rangers since 1997. He has twice been named one of the top 10 beat writers in the country by the AP Sports Editors. His passions outside of covering baseball are his wife, Gina, his two step kids, two crazy dogs & barbecue. Let's not discuss the cat. Evan graduated from Georgia State University, but oddly is a Georgia fan.

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