Down Syndrome Insights for Families and Caregivers

Down syndrome is a genetic condition that has been recognized and studied for centuries but remains a relevant topic for medical research and social awareness in modern times. People with Down syndrome can lead full, happy lives with proper support from family, friends, educators, and medical professionals. In our guide, we will cover the history of Down syndrome, the causes of this condition, the common symptoms to look out for, the diagnostic process, and the best treatment options to explore.

Whether you are a parent who is expecting a baby and is worried about the risk of Down syndrome or an advocate who wants to learn how to help people with Down syndrome in your community, we hope this article will be useful to you. While this guide offers important information about Down syndrome, it cannot replace a consultation with a qualified doctor. If you need help with a Down syndrome diagnosis, reach out to Nashville Mental Health—our experts will be able to assist you.

What Is Down Syndrome?

Down syndrome is a genetic disorder that takes place when a person is partially or fully endowed with an extra copy of chromosome 21. This additional genetic material leads to the alteration in the development of the individual and may cause mental and physical challenges.

On the 21st of March, the world celebrates Down Syndrome Day to raise public awareness regarding this condition and advocate for the well-being and acceptance of people with Down syndrome. While in the past people with Down syndrome were marginalized and excluded from public life, these days they have the same rights and opportunities as those without this condition.

Historical Overview of Down Syndrome

It is believed Down syndrome has existed for thousands of years—some historians claim to have found drawings and paintings of people with Down syndrome created before our era. The first scientific description of the condition is attributed to a British physician, John Langdon Down. In 1862, he identified the disorder, and in 1866, the doctor published his findings, referring to the condition as Mongoloid.

In 1959, a French geneticist, Jerome Lejeune, discovered that the condition was caused by the presence of an extra chromosome. The name of the disorder—Down syndrome—was officially adopted in 1965 after the World Health Organization approved it. The same year, the condition was recognized as a form of mental disability eligible for special education.

Causes of Down Syndrome

Down syndrome is caused by abnormal cell division—when chromosome 21 is copied an extra time, the genetic material is mismatched, leading to this condition. At the same time, there are several risk factors associated with Down syndrome:

• The advanced age of the mother. If a baby is conceived when the mother is 35 years old or older, there is a higher chance of Down syndrome.
• Genetic predisposition. Parents who have one child with Down syndrome or are known to be carriers of the genetic translocation may have another child with the same condition.
• The age of the father. Some studies show that fathering a child after the age of 40 slightly increases the risk of Down syndrome.

Symptoms of Down Syndrome

Here are the most common signs of Down syndrome you may notice when the baby is born:

• Flattened face
• Almond-shaped eyes
• Short neck
• Small ears
• Protruding tongue
• Poor muscle tone
• Short height

Bear in mind that some of the physical features listed above may be present in individuals without Down syndrome. It is important to pay attention to the developmental milestones of the child – if they have trouble keeping up with their peers when it comes to cognitive and physical development, you should talk to a doctor.

Diagnosis of Down Syndrome

Two types of tests can determine whether the child will be born with Down syndrome or not—screening tests and diagnostic tests. It is advised to screen for Down syndrome during pregnancy – a healthcare provider will examine the blood of the mother and conduct an ultrasound to identify the risk of the disorder.

Diagnostic tests such as chorionic villus sampling and amniocentesis are more invasive and precise—they are typically carried out when the mother is older than 35 or the initial screening test has shown the likelihood of Down syndrome. These tests are performed during pregnancy; however, if the disorder is not diagnosed until the child is born, a pediatrician will be able to spot the symptoms of Down syndrome upon a visual examination of the newborn.

Treatment of Down Syndrome

While there is no cure for Down syndrome at the moment, there are various therapies and programs designed to help people with Down syndrome. Below you can see the interventions that may benefit a person with Down syndrome:

• Speech therapy. A speech-language pathologist will assist the person with Down syndrome and teach them to overcome articulation problems.
• Physical therapy. It has been pointed out that people with Down syndrome struggle with low muscle tone and poor posture—a physical therapist will address these issues from a young age.
• Special education. Educators trained to work with children with Down syndrome will be able to create individualized development plans adapted to the needs of a particular student.

With proper support and care, people with Down syndrome can live long, fulfilling lives. In many countries, children with Down syndrome have access to free special education. Talk to your local education board to find out whether your child is eligible for this program.

Embracing People With Down Syndrome

We hope that our guide will help you understand Down syndrome and support people with this disorder, whether you are expecting a child with Down syndrome or want to advocate for the rights of people with special needs in your community. From prenatal screening to special education customized to fit the needs of the student, there are many ways to help a person with Down syndrome!

If your child has been diagnosed with Down syndrome, get in touch with Nashville Mental Health. Our team will be able to develop a personalized treatment plan for your child and advise you on the therapies you can continue at home. Reach out to us today and let us assist you!

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