Diagnosis Discussion- Down Syndrome, Part 1

I wanted to make a post about Down Syndrome now since I didn’t get to post one in October, which was Down Syndrome Awareness Month.  I wanted to provide some general information about the diagnosis to educate those who may not know a lot about the syndrome.

Before you decide that you may not need to read this series of posts since you may not know anyone with Down Syndrome, just take a moment to quickly look at the myths and facts regarding Down Syndrome because there will likely be a time when you come across someone with Down Syndrome, and then you can be confident not to say / do anything ignorant and offensive :).  I’ll go into some of the fun stories some of my patients have told me in Part 2 of this series.

Another common population I work with is patients with Down Syndrome.  I primarily work with patients that are 0-3 years old for my job where I see patients in their homes.  I see a number of patients with Down Syndrome in home environments rather than in a clinic environment because they are usually approved for therapy in their home and not in a clinic, (in California anyway…).

I have been lucky to provide therapy services for a few patients with Down Syndrome since they were 6-8 months old until they turned 3.   So not only have I learned a lot about the diagnosis, I have also learned a lot about family dynamics and have had many discussions about what it’s like to be a parent to someone with Down Syndrome.

In this post, I will discuss the following topics regarding Down Syndrome:

General Info

Myths and Truths about Down Syndrome

Key Facts about Down Syndrome

In Part 2 of this series that I will post next week, I will post about:

Physical Therapy and Estimated gross motor milestones for children with Down Syndrome

What you DON’T say to a parent of a child with Down Syndrome

Great blogs from parents of a child with Down Syndrome

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GENERAL INFORMATION

I will briefly post some general info but if you are looking for in depth details, here are a few sites you can visit:

Medline Plus

National Institute of Health

National Down Syndrome Society <– great website for anyone looking for a number of resources to learn more about Down Syndrome

Here’s the general info, from Medline Plus

Down syndrome is a genetic condition in which a person has 47 chromosomes instead of the usual 46.

Causes

In most cases, Down syndrome occurs when there is an extra copy of chromosome 21. This form of Down syndrome is called Trisomy 21. The extra chromosome causes problems with the way the body and brain develop.

Down syndrome is the most common single cause of human birth defects.

Symptoms

Down syndrome symptoms vary from person to person and can range from mild to severe. However, children with Down syndrome have a widely recognized appearance.

The head may be smaller than normal and abnormally shaped. For example, the head may be round with a flat area on the back. The inner corner of the eyes may be rounded instead of pointed.

Common physical signs include:

  • Decreased muscle tone at birth
  • Excess skin at the nape of the neck
  • Flattened nose
  • Separated joints between the bones of the skull (sutures)
  • Single crease in the palm of the hand
  • Small ears
  • Small mouth
  • Upward slanting eyes
  • Wide, short hands with short fingers
  • White spots on the colored part of the eye (Brushfield spots)

Physical development is often slower than normal. Most children with Down syndrome never reach their average adult height.

Children may also have delayed mental and social development. Common problems may include:

  • Impulsive behavior
  • Poor judgment
  • Short attention span
  • Slow learning

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MYTHS AND TRUTHS ABOUT DOWN SYNDROME (from ndss.org)

Myth: Down syndrome is a rare genetic disorder.
Truth: Down syndrome is the most commonly occurring genetic condition. One in every 691 babies in the United States is born with Down syndrome, approximately 6,000 births per year. Today, there are more than 400,000 people living with Down syndrome living in the United States.

Myth: People with Down syndrome have severe cognitive delays.
Truth: Most people with Down syndrome have cognitive delays that are mild to moderate. Children with Down syndrome fully participate in public and private educational programs. Educators and researchers are still discovering the full educational potential of people with Down syndrome.

Myth: Most people with Down syndrome are institutionalized.
Truth: Today people with Down syndrome live at home with their families and are active participants in the educational, vocational, social, and recreational activities of the community. They are integrated into the regular education system and take part in sports, camping, music, art programs and all the other activities of their communities. People with Down syndrome are valued members of their families and their communities, contributing to society in a variety of ways.

Myth: Parents will not find community support in bringing up their child with Down syndrome.
Truth: In almost every community of the United States there are parent support groups and other community organizations directly involved in providing services to families of individuals with Down syndrome. Visit www.ndss.org to find a Down syndrome group in your area.

Myth: Children with Down syndrome must be placed in segregated special education programs.
Truth: Children with Down syndrome have been included in regular academic classrooms in schools across the country. In some instances they are integrated into specific courses, while in other situations students are fully included in the regular classroom for all subjects. The current trend in education is for full inclusion in the social and educational life of the community. Increasingly, individuals with Down syndrome graduate from high school with regular diplomas, participate in post-secondary academic and college experiences and, in some cases, receive college degrees.

 I am currently discussing these concerns with a few of my patients whose children will soon turn 3 and begin preschool.  In my experiences so far, it is not guaranteed that a child with Down Syndrome will be included in a regular classroom and has to go through a number of tests before a decision will be made.  My patients also have to undergo additional tests to see what therapies they can continue receiving in a school environment.  

Myth: Adults with Down syndrome are unemployable.
Truth: Businesses are seeking adults with Down syndrome for a variety of positions. They are being employed in small- and medium-sized offices: by banks, corporations, nursing homes, hotels and restaurants. They work in the music and entertainment industry, in clerical positions, childcare, the sports field and in the computer industry to name a few.

Just take a look around you every now and then and you will see that adults with Down Syndrome are working everywhere.

Myth: Adults with Down syndrome are unable to form close interpersonal relationships leading to marriage.
Truth: People with Down syndrome have meaningful friendships, date, socialize, form ongoing relationships and marry.

Myth: People with Down syndrome are always happy.
Truth: People with Down syndrome have feelings just like everyone else in the population. They experience the full range of  emotions. They respond to positive expressions of friendship and they are hurt and upset by inconsiderate behavior.

— This one is my favorite myth, and is what most people ask me when I say I see a number of patients with Down Syndrome.   People usually reply, “Well, they’re usually easier to work with right, since they’re always happy?”  I usually laugh out loud.  I frankly don’t see any difference in any of my patients no matter their diagnosis, since most my patients are upset with me whenever I “encourage” them to do something they may not want to do at that moment 🙂

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KEY FACTS ABOUT DOWN SYNDROME- also from www.ndss.org

–Down syndrome is the most commonly occurring chromosomal condition. One in every 691 babies in the United States is born with Down syndrome.
–There are more than 400,000 people living with Down syndrome in the United States.
–Down syndrome occurs in people of all races and economic levels.
–The incidence of births of children with Down syndrome increases with the age of the mother. But due to higher fertility rates in younger women, 80% of children with Down syndrome are born to women under 35 years of age.
–All people with Down syndrome experience cognitive delays, but the effect is usually mild to moderate and is not indicative of the many strengths and talents that each individual possesses.
–Quality educational programs, a stimulating home environment, good health care, and positive support from family, friends and the community enable people with Down syndrome to develop their full potential and lead fulfilling lives.

Check back next week for part 2 of this series, where I will discuss physical therapy and Down Syndrome and share what you DON’T say to parents of a child with Down Syndrome, and share some great blogs from some parents with kiddos with Down Syndrome.



Categories: Diagnosis Discussion

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3 replies

  1. A note about special education:
    Federal law requires that students must be evaluated (academics & related services) to determine eligibility. Placing a student in special education simply because of a diagnosis (of any kind) is illegal and discriminatory. If a child with Down syndrome needs supports to access the curriculum but is able to adequately participate in and keep up with the general education curriculum, parents may want to explore a 504 plan instead of an IEP.

    If a student needs special education based on academic needs, eligibility and placement may e determined. Again, the testing that determines eligibility is also used to determine placement. Federal law requires placing a student in the least restrictive environment. In special education, this typically starts with integration in the general education classroom with a special education teacher in the same classroom (inclusion model) or available for additional help during subjects that are a concern (individual or small group support in a room separate from the general education classroom) and moves to a fully self contained special education classroom. If any of your patients’ parents have been told that integration in general education is not guaranteed or possible, I’d suggest they seek out a private educational advocate.

    Therapy at school, however, is not guaranteed even with a diagnosis and eligibility determined. Therapy is a related service, and is meant to facilitate the student’s ability to access AND participate in the special educational curriculum, as outlined by the IEP, and physical education. Modifications and adaptations may be provided, for example through adaptive PE, but this may or may not indicate a need for school based PT. This decision must be a team decision, including the parents. However, parents should also be educated about what the role of therapy at school is, and how it differs from clinic or home based therapy.

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  2. Any good therapeutic ideas to encourage crawling in children with down syndrome? Please respond to Sarah@stepspt.com.
    Thank you!
    Dr. Sarah Kranz, PT DPT

    Like

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  1. Diagnosis Discussion- Down Syndrome Part 2 | Beyond Basic Play

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