What is Down's Syndrome?
The Centers for Disease Control and Prevention (CDC) has provided an excellent summary of Down's Syndrome. [Reference, infra.]
Down's syndrome (also called "Down syndrome") is a condition in which a person has an extra chromosome. Typically, a baby is born with 46 chromosomes. Babies with Down's syndrome have an extra copy of chromosome 21. A medical term for having an extra copy of a chromosome is ‘trisomy.' Down's syndrome is also referred to as Trisomy 21. This extra copy changes how the baby's body and brain develop, which can cause disabling mental and physical challenges for the baby.
Even though people with Down's syndrome might act and look similar, each person has different abilities. People with Down's syndrome usually have an IQ in the mildly-to-moderately low range and are slower to speak than other children.
Some common physical features of Down's syndrome include:
- A flattened face, especially the bridge of the nose
- Almond-shaped eyes that slant up
- A short neck
- Small ears
- A tongue that tends to stick out of the mouth
- Tiny white spots on the iris (colored part) of the eye
- Small hands and feet
- A single line across the palm of the hand (palmar crease)
- Small pinky fingers that sometimes curve toward the thumb
- Poor muscle tone or loose joints
- Shorter in height as children and adults
Down's syndrome remains the most common chromosomal condition diagnosed in the United States. Each year, about 6,000 babies born in the United States have Down's syndrome. This means that Down's syndrome occurs in about 1 out of every 700 babies.
Types of Down's Syndrome
There are three types of Down's syndrome:
Trisomy 21: About 95% of people with Down's syndrome have Trisomy 21. With this type of Down's syndrome, each cell in the body has 3 separate copies of chromosome 21 instead of the usual 2 copies.
Translocation Down's syndrome: This type accounts for a small percentage of people with Down's syndrome (about 3%). This occurs when an extra part or a whole extra chromosome 21 is present, but it is attached or “trans-located” to a different chromosome rather than being a separate chromosome 21.
Mosaic Down's syndrome: This type affects about 2% of the people with Down syndrome. Mosaic means mixture or combination. For children with mosaic Down's syndrome, some of their cells have 3 copies of chromosome 21, but other cells have the typical two copies of chromosome 21. Children with mosaic Down's syndrome may have the same features as other children with Down's syndrome. However, they may have fewer features of the condition due to the presence of some (or many) cells with a typical number of chromosomes.
Causes and Risk Factors
The extra chromosome 21 leads to the physical features and developmental challenges that can occur among people with Down's syndrome. Researchers know that Down's syndrome is caused by an extra chromosome, but no one knows for sure why Down's syndrome occurs or how many different factors play a role.
One factor that increases the risk for having a baby with Down's syndrome is the mother's age. Women who are 35 years or older when they become pregnant are more likely to have a pregnancy affected by Down's syndrome than women who become pregnant at a younger age. However, most babies with Down's syndrome are born to mothers less than 35 years old, because there are many more births among younger women.
There are two basic types of tests available to detect Down's syndrome during pregnancy. A screening test can tell a woman and her healthcare provider whether her pregnancy has a lower or higher chance of having Down's syndrome. Screening tests do not provide an absolute diagnosis, but they are safer for the mother and the developing baby. Diagnostic tests can typically detect whether a baby will have Down's syndrome, but they can be riskier for the mother and developing baby. Neither screening nor diagnostic tests can predict the full impact of Down's syndrome on a baby; no one can predict this.
Screening tests often include a combination of a blood test, which measures the amount of various substances in the mother's blood (e.g., MS-AFP, Triple Screen, Quad-screen), and an ultrasound, which creates a picture of the baby. During an ultrasound, one of the things the technician looks at is the fluid behind the baby's neck. Extra fluid in this region could indicate a genetic problem. These screening tests can help determine the baby's risk of Down's syndrome. Rarely, screening tests can give an abnormal result even when there is nothing wrong with the baby. Sometimes, the test results are normal and yet they miss a problem that does exist.
Diagnostic tests are usually performed after a positive screening test in order to confirm a Down's syndrome diagnosis. These tests look for changes in the chromosomes that would indicate a Down's syndrome diagnosis and include:
Chorionic villus sampling (CVS) of material from the placenta.
Amniocentesis examines the amniotic fluid (the fluid from the sac surrounding the baby).
Percutaneous umbilical blood sampling (PUBS) examines blood from the umbilical cord.
Other Health Problems
Many people with Down's syndrome have the common facial features and no other major birth defects. However, some people with Down's syndrome might have one or more major birth defects or other medical problems that include:
Obstructive sleep apnea, which is a condition where the person's breathing temporarily stops while asleep.
Heart defects present at birth.
Down's syndrome is a lifelong condition. Services early in life will often help babies and children with Down's syndrome to improve their physical and intellectual abilities. Most of these services focus on helping children with Down's syndrome develop to their full potential.
These services include speech, occupational, and physical therapy, and they are typically offered through early intervention programs in each state. Children with Down's syndrome may also need extra help or attention in school, although many children are included in regular classes.
Disability Benefits for Down's Syndrome
You can usually get “automatic” approval for disability benefits if you meet the Blue Book “listing” at 10.06 Non-mosaic Down syndrome, (chromosome 21 trisomy or chromosome 21 translocation), which sets forth the criteria, including a laboratory report of karyotype analysis, which is the definitive test to establish non-mosaic Down's syndrome, that the Social Security Administration requires for finding of disability.
A physician's report is also acceptable that states that you have Down's syndrome, with the distinctive facial or other physical features, and evidence demonstrating that you function at a level consistent with non-mosaic Down's syndrome.
If you do not meet a “listing,” you may still be eligible for disability benefits in accordance with your residual functional capacity (RFC) that determines what kinds of limitations or restrictions you have with your condition. If the RFC documents that you are unable to work at all (not even at a desk job), then disability benefits can be awarded using a medical-vocational allowance.
To be eligible for Social Security Disability Income (SSDI), an applicant with Down's syndrome must have been employed in the past and paid Social Security taxes. If the applicant hasn't worked, he/she may be eligible to receive benefits under the Supplemental Security Income (SSI) program, which is a program for the poor that has no work requirements.
If a Down's applicant has a parent who already receives SSDI, he/she may be eligible to receive benefits as an “adult child,” if he/she is > 18 years of age and became disabled before 22 years of age.
Essential Medical Documentation Needed for Disability Benefits:
- How does the condition impact you in your daily life? (substantial impact?)
- How does the condition impact your ability to concentrate, follow directions, stay focused and on task? (substantial interference?)
- How does the condition impact your ability to interact with others? (substantial interference?)
SSA utilizes the term "Impairments" (and resulting "limitations" - why you cannot work) are the essential bits of information that must be clearly and consistently documented throughout your medical history by the treating sources (medical doctors, psychologists, psychiatrists).
SSA additionally utilizes the term "Residual Functional Capacity" (RFC); this is a key concept related to the resulting physical and/or mental impairments from conditions for which the disability claim is based upon and the impact upon ability to work.
SSA has its own forms that are used for Mental RFC here. These forms can be filled out by the treating source who has the opportunity to examine the patient and understand the limitations which result from his/her condition and thereby document with specificity in the language of SSA disability.
Your disablity lawyer must work closely with your treating physician to get the proper documentation of your specific findings and impairments into the medical records. At Law Med that's what we do.