Tag Archives: Down Syndrome

Down Syndrome Awareness Day

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Down Syndrome Awareness Day is chance to spread awareness, advocacy and inclusion throughout the community.  On March 21st, we celebrate individuals with Down syndrome and make people aware of their abilities and accomplishments.

It’s not about celebrating disabilities; it’s about celebrating abilities.

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What Is Down Syndrome?
Down syndrome (or Down’s syndrome) is a chromosomal disorder caused by an error in cell division that results in an extra 21st chromosome. The condition leads to impairments in both cognitive ability and physical growth that range from mild to moderate developmental disabilities. Through a series of screenings and tests, Down syndrome can be detected before and after a baby is born.

The only factor known to affect the probability of having a baby with Down syndrome is maternal age. That is, less than one in 1,000 pregnancies for mothers less than 30 years of age results in a baby with Down syndrome. For mothers who are 44 years of age, about 1 in 35 pregnancies results in a baby with Down syndrome. Because younger women generally have more children, about 75 – 80% of children with Down syndrome are born to younger women.

What causes Down syndrome?
Down syndrome occurs because of an abnormality characterized by an extra copy of genetic material on all or part of the 21st chromosome. Every cell in the body contains genes that are grouped along chromosomes in the cell’s nucleus or center. There are normally 46 chromosomes in each cell, 23 inherited from your mother and 23 from your father. When some or all of a person’s cells have an extra full or partial copy of chromosome 21, the result is Down syndrome.

The most common form of Down syndrome is known as Trisomy 21, a condition where individuals have 47 chromosomes in each cell instead of 46. This is caused by an error in cell division called nondisjunction, which leaves a sperm or egg cell with an extra copy of chromosome 21 before or at conception. Trisomy 21 accounts for 95% of Down syndrome cases, with 88% originating from nondisjunction of the mother’s egg cell.

The remaining 5% of Down syndrome cases are due to conditions called mosaicism and translocation. Mosaic Down syndrome results when some cells in the body are normal while others have Trisomy 21. Robertsonian translocation occurs when part of chromosome 21 breaks off during cell division and attaches to another chromosome (usually chromosome 14). The presence of this extra part of chromosome 21 causes Down some syndrome characteristics. Although a person with a translocation may appear physically normal, he or she has a greater risk of producing a child with an extra 21st chromosome.

October is Down Syndrome Awareness Month

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Down Syndrome Awareness Month is chance to spread awareness, advocacy and inclusion throughout the community. During the month of October, we celebrate  individuals with Down syndrome and make people aware of their abilities and accomplishments

What Is Down Syndrome?
In every cell in the human body there is a nucleus, where genetic material is stored in genes.  Genes carry the codes responsible for all of our inherited traits and are grouped along rod-like structures called chromosomes.  Typically, the nucleus of each cell contains 23 pairs of chromosomes, half of which are inherited from each parent. Down syndrome occurs when an individual has a full or partial extra copy of chromosome 21.

This additional genetic material alters the course of development and causes the characteristics associated with Down syndrome. A few of the common physical traits of Down syndrome are low muscle tone, small stature, an upward slant to the eyes, and a single deep crease across the center of the palm – although each person with Down syndrome is a unique individual and may possess these characteristics to different degrees, or not at all.

How Common is Down Syndrome?
One in every 691 babies in the the United States is born with Down syndrome, making Down syndrome the most common genetic condition. Approximately 400,000 Americans have Down syndrome and about 6,000 babies with Down syndrome are born in the United States each year.

What Causes Down Syndrome?
Regardless of the type of Down syndrome a person may have, all people with Down syndrome have an extra, critical portion of chromosome 21 present in all or some of their cells.  This additional genetic material alters the course of development and causes the characteristics associated with Down syndrome.

The cause of nondisjunction is currently unknown, but research has shown that it increases in frequency as a woman ages.  However, due to higher birth rates in younger women, 80% of children with Down syndrome are born to women under 35 years of age.

There is no definitive scientific research that indicates that Down syndrome is caused by environmental factors or the parents’ activities before or during pregnancy.

The additional partial or full copy of the 21st chromosome which causes Down syndrome can originate from either the father or the mother. Approximately 5% of the cases have been traced to the father.

When Was Down Syndrome Discovered?
For centuries, people with Down syndrome have been alluded to in art, literature and science. It wasn’t until the late nineteenth century, however, that John Langdon Down, an English physician, published an accurate description of a person with Down syndrome. It was this scholarly work, published in 1866, that earned Down the recognition as the “father” of the syndrome. Although other people had previously recognized the characteristics of the syndrome, it was Down who described the condition as a distinct and separate entity.

In recent history, advances in medicine and science have enabled researchers to investigate the characteristics of people with Down syndrome. In 1959, the French physician Jérôme Lejeune identified Down syndrome as a chromosomal condition. Instead of the usual 46 chromosomes present in each cell, Lejeune observed 47 in the cells of individuals with Down syndrome. It was later determined that an extra partial or whole copy of chromosome 21 results in the characteristics associated with Down syndrome. In the year 2000, an international team of scientists successfully identified and catalogued each of the approximately 329 genes on chromosome 21. This accomplishment opened the door to great advances in Down syndrome research.

October is Down Syndrome Awareness Month

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October is Down Syndrome Awareness Month

Down Syndrome Awareness Month is chance to spread awareness, advocacy and inclusion throughout the community. During the month of October, we celebrate  individuals with Down syndrome and make people aware of their abilities and accomplishments

What Is Down Syndrome?
In every cell in the human body there is a nucleus, where genetic material is stored in genes.  Genes carry the codes responsible for all of our inherited traits and are grouped along rod-like structures called chromosomes.  Typically, the nucleus of each cell contains 23 pairs of chromosomes, half of which are inherited from each parent. Down syndrome occurs when an individual has a full or partial extra copy of chromosome 21.

This additional genetic material alters the course of development and causes the characteristics associated with Down syndrome. A few of the common physical traits of Down syndrome are low muscle tone, small stature, an upward slant to the eyes, and a single deep crease across the center of the palm – although each person with Down syndrome is a unique individual and may possess these characteristics to different degrees, or not at all.

How Common is Down Syndrome?
One in every 691 babies in the the United States is born with Down syndrome, making Down syndrome the most common genetic condition. Approximately 400,000 Americans have Down syndrome and about 6,000 babies with Down syndrome are born in the United States each year.

What Causes Down Syndrome?
Regardless of the type of Down syndrome a person may have, all people with Down syndrome have an extra, critical portion of chromosome 21 present in all or some of their cells.  This additional genetic material alters the course of development and causes the characteristics associated with Down syndrome.

The cause of nondisjunction is currently unknown, but research has shown that it increases in frequency as a woman ages.  However, due to higher birth rates in younger women, 80% of children with Down syndrome are born to women under 35 years of age.

There is no definitive scientific research that indicates that Down syndrome is caused by environmental factors or the parents’ activities before or during pregnancy.

The additional partial or full copy of the 21st chromosome which causes Down syndrome can originate from either the father or the mother. Approximately 5% of the cases have been traced to the father.

When Was Down Syndrome Discovered?
For centuries, people with Down syndrome have been alluded to in art, literature and science. It wasn’t until the late nineteenth century, however, that John Langdon Down, an English physician, published an accurate description of a person with Down syndrome. It was this scholarly work, published in 1866, that earned Down the recognition as the “father” of the syndrome. Although other people had previously recognized the characteristics of the syndrome, it was Down who described the condition as a distinct and separate entity.

In recent history, advances in medicine and science have enabled researchers to investigate the characteristics of people with Down syndrome. In 1959, the French physician Jérôme Lejeune identified Down syndrome as a chromosomal condition. Instead of the usual 46 chromosomes present in each cell, Lejeune observed 47 in the cells of individuals with Down syndrome. It was later determined that an extra partial or whole copy of chromosome 21 results in the characteristics associated with Down syndrome. In the year 2000, an international team of scientists successfully identified and catalogued each of the approximately 329 genes on chromosome 21. This accomplishment opened the door to great advances in Down syndrome research.

How One Toys ‘R’ Us Trip Brought Mobility to Hundreds of Disabled Kids

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These $200 alternatives to power wheelchairs are helping physically impaired kids get moving.

Cole Galloway’s workspace at the University of Delaware resembles a ransacked toy store. There are piles of plastic tubing, swim noodles, stuffed animals, and battery-powered Jeep and Barbie cars everywhere. But Galloway, 48, is a physical therapy professor and infant behavior expert whose lab has a very clear mission: to provide mobility to children with cognitive or physical disabilities.

Galloway started his infant behavior lab to study how children learn to move their bodies. He was particularly interested in finding ways to close what he calls “an exploration gap” — the difference between typically developing children and those who suffer from mobility issues due to conditions like cerebral palsy and Down syndrome. In 2007 Sunil Agrawal, a professor of mechanical engineering at the university, approached Galloway in a conversation he says went something like this: I’ve got small robots. You’ve got small babies. I wonder if we can do something together.

The two professors started building power mobility robots that let disabled children explore their surroundings with greater confidence and independence. But due to the cost and heft of the parts, their early vehicles cost tens of thousands of dollars and weighed up to 150 pounds, making them inaccessible to the families who needed them the most. Galloway’s solution to those problems came to him during a visit to Toys ‘R’ Us, where he saw he could shift his vision of “babies driving robots” to the lower tech “babies driving race cars.” It was then that Go Baby Go was born.

Unlike electric wheelchairs, which are usually reserved by kids above age three, Galloway’s cars can be used in the critical early years of development. He estimates that so far Go Baby Go has retrofitted an estimated 100 toy cars, a small dent for the more than half a million American children under the age of five who have mobility problems. To spread his mission, Galloway has traveled across the country, posted YouTube videos and spoken with dozens of parents. He hopes that others can learn from his work and build cars of their own: “If you’re not going to drop what you’re doing and come work for us, at least contact us — we’ll send you everything we have.”

Unforgettable Anthem Performance

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Marley Sommer is the eldest son of AHL Worcester Sharks coach Roy Sommer. Marley also has Down syndrome and is autistic. Neither stopped him from taking to the ice on Wednesday night to perform the Star Spangled Banner in front of the crowd.

Sporting a special Worcester Sharks jersey for Autism Awareness Month, Sommer was supposed to sing the anthem from the bench. He had other ideas. With his dad behind him, Sommer took advantage of the red carpet laid out for the puck drop and walked out to the middle of the ice and let loose with the national anthem.

As you would expect, there wasn’t a dry eye in the building according to Sharks broadcaster Eric Lindquist. Everybody couldn’t help but be touched by a pretty incredible moment.