When an expecting mom learns her fetus has Down syndrome, she may want to talk with a genetic counselor. They can help explain the condition and offer counseling and support groups.
University of Texas student Duane Graves followed his charismatic childhood chum Rene Moreno, who has Down Syndrome, to capture their world in this playful, stirring and remarkably unique portrait documentary.
What is Down syndrome?
Down syndrome is caused by a problem with one of the chromosomes. Chromosomes are tiny packages of DNA that contain instructions for building cells and controlling the body’s functions. Everyone has 23 pairs of chromosomes, but people with Down syndrome have an extra 21st chromosome, which is why the condition is sometimes referred to as trisomy 21. It’s not a disease, but a genetic disorder that affects many aspects of mental and physical development.
The symptoms of Down syndrome can vary widely among affected individuals. They tend to have slowed growth, intellectual challenges of varying degrees and characteristic facial features like crossed eyes. They also have a higher risk of heart problems, gastrointestinal issues and other medical conditions.
It’s the most common genetic chromosomal condition, but it’s not a disease that’s contagious or infectious. It occurs when a mistake in cell division happens during pregnancy. This is why it’s important for women who are planning to have children to talk with a genetic counselor or health care provider about their family history. A woman with a family history of Down syndrome has a 3% chance of having a baby with the condition.
Children with Down syndrome generally learn to walk and talk later than other children, but they can achieve many developmental milestones over time. They may have mild to moderate intellectual disability, which causes them to have trouble learning, remembering and processing information. They also often have behavioral issues like impulsivity, stubbornness and temper tantrums.
Down syndrome can cause health problems like vision and hearing loss, gastroesophageal reflux and celiac disease. Down syndrome patients are also more likely to have heart defects and to experience a higher rate of cancer.
In addition to primary care providers, people with Down syndrome may be seen by medical specialists, including cardiologist, endocrinologist and geneticist. They may also need to work with other health professionals such as speech therapists, physical therapists and occupational therapists to improve motor skills and make daily living easier. They are also likely to need medical equipment, such as hearing aids and eyeglasses.
How is it diagnosed?
A doctor can diagnose Down syndrome by looking at a baby’s physical appearance or by performing a blood test called a karyotype test. This test removes a small sample of cells from the baby’s blood and examines them under a microscope for an extra 21st chromosome.
Chromosomes are small “packages” of genes that determine how a baby grows and develops during pregnancy and after birth. Normally, babies are born with 46 chromosomes. Down syndrome occurs when a baby has an extra copy of chromosome 21, which is the reason it’s also sometimes referred to as Trisomy 21.
There are three types of Down syndrome: non-mosaic, typical, and mosaic. Mosaic Down syndrome is less common and happens when only some of the cells in a baby have an extra chromosome.
What are the symptoms?
A monkey might look healthy and happy while frolicking in the jungle, but it could have a range of disorders lying dormant inside its body. Monkeys are notorious for biting and scratching people, but the critters are also known to spread parasites and zoonotic diseases. They are a common threat to human health, and they can also carry diseases such as HIV. In fact, the risk of infection from a monkey is much greater than with other species, such as dogs or cats.
Chimpanzees and other apes have a similar genetic structure to humans, and it isn’t uncommon for chimps to develop conditions that mimic Down syndrome. These disorders typically result from chromosomal mutations, which can occur during pregnancy or in adulthood. Healthy human cells contain 23 pairs of chromosomes, but when someone has Down syndrome, they have an extra chromosome — a third copy of chromosome 21, or trisomy 21. The same can happen in apes, which have 24 pairs of chromosomes. The first case of a chimpanzee with trisomy 22 was documented in 1969. The chimp died before reaching two years old, and it was the first time that scientists had recorded such a condition in a chimp.
In the decades that followed, scientists continued to study chimpanzees and found several examples of this condition. One was a female chimp named Kanako that was born in captivity at the Kyoto University Sanctuary and Wildlife Research Center. Kanako had a number of abnormal characteristics that set her apart from other chimps, including crossed eyes and cataracts that led to blindness by age seven. She also had a hole in her heart, underdeveloped teeth and stunted growth.
In addition to chimps, researchers have documented Down syndrome-like symptoms in gorillas and orangutans. More recently, Wisconsin researchers discovered a rhesus monkey with the condition, which they described as “non-retarded” compared to her peers. This is believed to be the first monkey with Down syndrome that was born in captivity. Other apes with this condition have been born in the wild, and some of them have been found to have the same behavioral traits as humans with Down syndrome, such as a delay in physical development.
What are the treatments?
Researchers have not yet developed any treatment for monkeypox, but doctors have a few things they can do to help patients. One is to give them antihistamines. These are available over the counter, such as Benadryl or Claritin. Another is to use a drug called tecovirimat. This is an antiviral drug that can prevent serious complications. It is available through the CDC.
Scientists have not been able to develop treatments for the neurological effects of Down syndrome, but they can try to manage symptoms, such as depression and anxiety. They also can try to reduce the risk of seizures, which is a common problem for people with Down syndrome. Other drugs that can be used to treat this condition include corticosteroids, which are used to control inflammation and immune system problems.
In the past, scientists have studied chimpanzees and gorillas with Down syndrome, but they have never found a monkey with the condition. A study published in 2016 in the journal Primates reports on a 24-year-old female chimpanzee named Kanako. She was born in captivity and exhibited several traits that resemble those of people with Down syndrome, such as stunted growth, crossed eyes, and a disorder that causes the corneas to thin over time. Kanako also had a congenital heart disease and underdeveloped teeth. The researchers determined that Kanako has a duplicate of chromosome 21, which is referred to as trisomy 22 in humans.
It is unknown if other chimpanzees have trisomy 22, but it may be more common than previously thought. In addition, in 2014, news reports from Tanzania described a baby chimpanzee named Otto who was suspected of having Down syndrome, but he died before chromosomal tests could be performed.
Monkeys with Down syndrome have several physical characteristics that are similar to those of human beings with the condition, such as abbreviated height, clubbed digits, and a wide 1-2 toe hole. They also have a higher rate of inborn coronary heart disease and Hirschsprung’s disease, which is caused by an overgrowth of the intestines. In addition, they are prone to infections and can have trouble learning new behaviors.