Down Syndrome
Down Syndrome, a genetic disorder, can lead to minor or severe physical and developmental issues. One out of about 700 newborns is born with an extra chromosome and has Down syndrome.
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Down Syndrome
Down syndrome is a chromosomal disorder resulting from an extra copy of chromosome 21. This condition can have an impact on one’s mental capacity and physical development, lead to a variety of developmental differences, and increase one’s chance of developing certain health issues. To identify Down syndrome either before or after birth, medical practitioners can perform screenings and testing. This condition continues as the most common chromosomal condition diagnosed in the United States. Every year, about 6,000 babies born in the United States have Down syndrome. This means that this condition occurs in about 1 in every 700 babies.
What Is Down Syndrome?
This genetic disorder can lead to minor to severe physical and developmental issues. Down syndrome patients are born with an extra chromosome. The appropriate number of chromosomes, which are collections of genes, is essential for your body to function properly. With Down syndrome, this extra chromosome causes a variety of problems that have an impact on physical and mental health. if your child has this disorder, treatment can significantly improve their chances of leading a fulfilling life.
Down Syndrome Causes and Risk Factors
Humans have 23 pairs of chromosomes in each of their body cells. Your mother contributes one chromosome to each pair, and your father contributes the other. With Down syndrome, something goes awry and an extra copy of chromosome 21 is given to the developing embryo. A patient with Down’s syndrome has DNA that consists of three copies rather than two, this causes the condition’s symptoms. Doctors are unsure of why this occurs. Scientists have found nothing in the surroundings or the parent’s actions or inactions to cause this condition.
Doctors are aware that women over 35 have an increased risk of giving birth to a child with Down syndrome, even if they are unsure of the exact cause. Mothers are more likely to have another child with this condition if they have already have one child with the disorder.
QUESTIONS AND ANSWERS
What is Down syndrome, and what causes it?
Down syndrome, also known as trisomy 21, appears as a genetic disorder caused by the presence of an extra copy of chromosome 21. Typically, a person has two copies of this chromosome, but individuals with Down syndrome have three copies. The extra genetic material can lead to developmental and intellectual challenges, as well as certain physical features associated with Down syndrome. Doctors and scientists believe that the specific cause of the extra chromosome occurs randomly and does not link to any specific actions or behaviors of the parents.
What are the common characteristics and health concerns associated with Down syndrome in children?
Children with Down syndrome often exhibit certain physical characteristics, including almond-shaped eyes, a flat facial profile, a short neck, and a single deep crease across the palm of the hand. They may experience developmental delays, and intellectual disabilities, and have a higher likelihood of certain health concerns such as congenital heart defects, respiratory issues, hearing problems, and thyroid conditions. Early intervention programs, medical care, speech therapy, and special education services can help address these challenges and improve the quality of life for children with Down syndrome.
What resources and support are available for families of children with Down syndrome?
Families of children with Down syndrome have access to a range of resources and support networks. These may include local and national Down syndrome organizations, support groups, educational programs, therapy services, and medical specialists. Early intervention programs and therapies such as physical, occupational, and speech therapy can significantly aid in the child’s development. Additionally, parent support groups provide a platform for sharing experiences, knowledge, and emotional support. It’s important for families to actively engage with these resources to ensure their child receives the best possible care and support throughout their development.
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Developmental Delays
The cognitive development profiles of people with Down syndrome often indicate mild to severe intellectual impairment. However, intelligence and cognitive development vary greatly from person to person. Additionally, learning issues in people with Down syndrome cause developmental delays. The cognitive and behavioral characteristics of someone with this condition follow a certain pattern. These are different from children who are normally developing and children with intellectual disabilities for other reasons.
Developmental milestones are frequently attained by children with Down syndrome a bit later than their classmates. They can take a while to learn how to sit down, turn over, or stand. Additionally, coordination of fine motor skills may take longer than normal to develop. Even after the infant develops motor skills, these abilities might take some time to fine-tune. It may take longer than expected to develop language skills, including speaking and understanding. Having said that, many of these milestones are eventually attained by persons with Down syndrome.
Down Syndrome and Genetics?
Most of the time this condition is not inherited and does not run in families. Even though Down syndrome appears as a hereditary disorder, most cases of it are caused by mistakes made when a sperm and an egg join and copy genetic material to make a child. In rare circumstances, there is a correlation between the parents of a child with translocation Down syndrome, and their propensity to have further children with this disorder. According to the Genetic and Rare Diseases Information Center, if one parent has a genetic rearrangement termed a balanced translocation, a higher probability of having a child with Down syndrome exists in future pregnancies. This occurs because translocations can cause this condition. However, not all translocation Down syndrome cases will cause a newborn to get the condition.
Types
There are several varieties of Down syndrome, including:
Trisomy 21
With over 95 percent of instances falling within this category, it is the most prevalent. It happens when individuals have 47 chromosomes rather than 46 in each cell. Trisomy 21 is brought on by a mistake in cell division. A sperm or egg cell with this mistake has an extra copy of chromosome 21 either before or after fertilization.
Mosaic Down Syndrome
About 2 percent of Down syndrome patients exhibit this kind. Chromosome 21 will appear on some of the children’s chromosomes as an additional copy, while it will appear on other cells as the usual two copies. Depending on whether there are 2 or 3 copies of chromosome 21 in a cell, children have fewer of the condition’s defining the characteristics of this condition.
Translocation Down Syndrome
Around 3 percent of Down syndrome instances are like this. This kind happens when a piece of chromosome 21 separates during cell division and fuses with another chromosome, often chromosome 14. Some of the hallmarks of Down syndrome are brought on by the presence of an additional piece of chromosome 21. Although a person with a translocation does not have any distinguishing physical characteristics, they are more likely to give birth to a child with Down’s Syndrome.
Diagnosis
During pregnancy, regular tests that look for Down syndrome are available. The first and second trimesters are typically when they are given. These preliminary exams employ ultrasound to check for any aberrant fluid accumulation in the baby’s neck and evaluate hormone levels in the blood. Chorionic villus sampling and amniocentesis are the two most often used diagnostic procedures.
Down Syndrome Treatments
Down syndrome does not have a particular therapy. However, several physical and developmental therapies exist to assist persons with Down syndrome to attain their full potential. They should begin as soon as possible. The demands of every child will vary, but the following help:
- Physical, occupational, and speech therapy
- Services for specialized education
- Recreational and social activities
- programs that teach self-care techniques and provide employment training
To keep an eye out for and treat any health issues linked to the illness, you’ll also collaborate closely with your child’s doctor.
Down Syndrome vs. Autism
Down Syndrome and Autism Spectrum disorders can affect a person’s cognitive abilities. There exist significant variations between these conditions. Contrary to Down syndrome, a person with autism lacks any distinctive or immediately distinguishable physical traits. Down syndrome appears as a genetic disorder while Autism appears as a neurological disease; although, its specific etiology is yet unknown. Both diseases may result in learning impairments or communication discrepancies when compared to a typical kid their age, and how this manifests itself might vary depending on the condition and the person. Both conditions have no known treatments. Most people will employ a variety of therapeutic techniques to manage their illness or enhance key aspects of their lives.
Outlook
Many activities that normal individuals can do, a person with Down syndrome can also do. Children may take longer to learn basic abilities like walking and talking, but with early stimulation and therapy, they can grow at their own rate and go to school. A person with Down syndrome may work and have a semi-independent life depending on how the disorder affects them. Down syndrome sufferers require friendships and connections. Some people choose to live alone, get married, or live with a partner. The Centers for Disease Control and Prevention (CDC) reports that because of recent developments in medicine and therapy, a person with Down syndrome now has a much longer life expectancy.
A person with Down syndrome had a 10-year life expectancy on average in 1960. In 2007, the average lifespan of someone with Down syndrome was 47 years. Due to contemporary developments in healthcare, early therapies, and effectively controlling congenital problems like heart diseases, a child born with Down syndrome today has the highest chance of having a long, fulfilling life.
Summary
A chromosome 21 error causes Down syndrome. A collection of traits unique to this condition occurs because of this mistake, which replicates into the genes. Physical traits, developmental disabilities, and the likelihood of developing additional health concerns exist in all Down Syndrome children. Even though a cure does not exist for this condition, early involvement can help a child grow and advance at their own rate. People with Down syndrome now have a better outlook than ever thanks to contemporary improvements in healthcare and therapy, and this trend may continue as additional medical discoveries take place.
Why Choose Medical City Children’s Orthopedics and Spine Specialists
Finally, our doctors at Medical City Children’s Orthopedics and Spine Specialists, with offices in Arlington, Dallas, Flower Mound, Frisco, and McKinney, TX understand the importance of maintaining your child’s health. In addition, our experts and specialists have the training, knowledge, and experience required treat children with Down Syndrome. If you believe your child may possibly have Down Syndrome or any other kind of condition, don’t hesitate to call our office to schedule an appointment to get a proper diagnosis at one of our four locations.
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