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Daily Checkup: Down syndrom

Dr. Reymundo Lozano specializes in helping children and adults who are living with intellectual disabilities.Handout

Dr. Reymundo Lozano specializes in helping children and adults who are living with intellectual disabilities.

The Specialist:

Dr. Reymundo Lozano specializes in helping children and adults who are living with intellectual disabilities. He’s an assistant professor of pediatrics, genetics and genomic sciences, and psychiatry at the Icahn School of Medicine at Mount Sinai.

Who’s at risk:

Doctors estimate that about 250,000 Americans have Down syndrome.

“Down syndrome is a chromosomal condition associated with intellectual disability that can range from mild to moderate,” says Dr. Reymundo Lozano, an assistant professor of pediatrics, genetics and genomic sciences, and psychiatry at the Icahn School of Medicine at Mount Sinai. “This is the most common chromosomal condition and is caused by having an extra copy of the 21 chromosome.” About 1 out of every 750-850 newborns has Down syndrome.

Down syndrome develops in the very early stages of reproduction. “Down syndrome arises from a defect in the ability of eggs to divide, which can lead one of the eggs to keep an extra copy of the 21 chromosome,” Lozano says. “If that egg is fertilized, then the fetus will have Down syndrome.”

Women of any age can have a child with Down syndrome, but the risk increases with the age of the mother.

“We consider women over 35 years of age to be at higher risk and every year the percentage of the risk gets higher,” says Lozano. “This is a syndrome that relates to the biology of the reproduction system, so everyone who reproduces is equally affected. Down syndrome affects people regardless of gender or racial difference.”

Signs and symptoms:

Down syndrome can be diagnosed visually when a child is born. “There are typical facial characteristics that are very distinctive, including a broad and flat face and slanted eyes,” Lozano says. “These babies also have an extra crease in the inner side of the eye and usually only one palmar crease in the hands, while most people have two.”

Low muscle tone also characterizes babies born with Down syndrome. “This low muscle tone can lead to difficulty feeding, so these newborns often stay in the nursery for a little while,” Lozano says. “Because we have national screening for down syndrome, many of these children are now diagnosed prenatally. This is a very difficult process for families, affected by many factors, and some parents will chose not to continue a pregnancy after the diagnosis of Down syndrome.”

Traditional treatment:

People with Down syndrome are also at increased risk of other health problems that are separate but related to the chromosomal condition. “About 50% of individuals with Down syndrome also have a heart defect, so they require multi-disciplinary care,” Lozano says. “For instance, a patient with Down syndrome might be treated by a pediatrician, cardiologist and neurologist, as well as behavioral and physical therapists.” Celiac disease and hypothyroidism are also common in people with Down syndrome.

Infants with Down syndrome require occupational therapy to help increase muscle tone and ability to feed. “The American Academy of Pediatrics released guidelines that tell doctors what to do at every visit during childhood and adolescence,” Lozano says. “For example, at two weeks of age we do a physical exam to check for muscle and feeding issues, we check thyroid function and we do an echocardiogram to check for heart defects.”

All affected individuals have cognitive and motor delays, and some also have autism.

“The idea is to start early with developmental therapies to support children as much as possible — so individuals who have mild intellectual disability may be able to function out in the community,” Lozano says. “They may be able to live on their own, have a partner, but still require some degree of extra support.”

Research breakthroughs:

Individuals with Down syndrome are predisposed to certain other health problems, especially as they age. “The aging process of an individual with Down syndrome is different than the aging process of someone from the general population, and they have a higher risk of Alzheimer’s,” Lozano says. “We want to stay on top of any problems that develop, and currently many projects are looking at how to treat cognitive deficits and Alzheimers in this population.”

Questions for your doctor:

If your child has Down syndrome, don’t hesitate to ask the pediatrician, “What kind of guidelines are you following for my child’s care?” and even, “Can I get a copy?” If your pregnancy is high-risk, then you might ask, “Can I have non-invasive fetal testing?” There are all sorts of new treatments in the pipeline, so if you’re interested ask, “Is my child a candidate for a clinical trial?” Another crucial question is, “What are the resources as my child transitions into adulthood?” Or “What can we do to support our child in a life that’s as independent as possible?”

“What I hear from parents all the time is that having a child with Down syndrome is a blessing that enriches their lives,” says Lozano. “We know a lot more about this syndrome than we did, and people with Down syndrome are living longer and healthier and happier lives.”

What you can do:

Get informed.

There is a plethora of associations serving people with Down syndrome and their families. Lozano recommends starting with the Down Syndrome Information Alliance (downsyndromeinfo.org/), the National Down Syndrome Society (ndss.org/), and Mount Sinai (mountsinai.org).

Talk to other parents.

“Doctors know a lot about the biology and treatment of Down syndrome, but when it comes to daily living skills, the parents are the ones who know the most and have come up with solutions,” Lozano says. “The many DS associations allow parents to talk other parents about their experiences. It’s a great opportunity to share information, socialize, and support research.”

Check out clinical trials.

There are many studies underway, so check ClinicalTrials.gov to see if there might be something appropriate for your child.

By the numbers:

— About 250,000 Americans have Down syndrome.

— 5300 babies are born with Down syndrome each year in this country.

— Down syndrome affects 1 out of every 750-850 newborns.

Source: Dr. Reymundo Lozano

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