Mosaic and Non-Mosaic Down Syndrome - Condition and Symptoms
Down syndrome is a condition in which there are three copies of chromosome 21 within the cells of the body instead of two. The extra chromosomes result in delayed physical development and mental retardation. There are three types of Down syndrome: Trisomy 21, Translocation, and Mosaic Down syndrome. People with Non-Mosaic Down Syndrome have an extra chromosome in every cell of the body, while people with Mosaic Down Syndrome have some cells with an extra chromosome and others which are normal.
Ninety-eight percent of people with Down syndrome have Trisomy 21 or Translocation Down syndrome. The Social Security Administration (SSA) considers people with Non-Mosaic Down syndrome as being disabled from birth. Most cases of Non-Mosaic Down syndrome affect the mental, neurological, and skeletal systems, and the syndrome is often accompanied by heart disease, impaired vision, hearing problems, and other conditions.
Mosaic Down syndrome occurs in only one to two percent of people with Down syndrome, and there is a wide range in the level of severity of the impairment. Mosaic Down syndrome can be profound and disabling, but it can also be so slight as to be clinically undetected.
Both prenatal screening and specific diagnostic tests are available to diagnose Down syndrome, but screening is not always an accurate predictor of the condition. The specific tests, which are 98% accurate in making a diagnosis, are amniocentesis (taking a sample of the amniotic fluid surrounding the fetus and analyzing it for chromosome abnormalities), chorionic villus sampling (taking cells from the mother’s placenta for analysis), and percutaneous umbilical blood sampling (taking blood from a vein in the umbilical cord for analysis).
Common physical characteristics for Down syndrome include low muscle tone, flat facial profile, somewhat depressed nasal bridge and small nose, upward slant to the eyes, abnormal shape of the ear, a single deep crease across the center of the palm, excessive ability to extend the joints, dysplastic middle phalanx of 5th finger, small skin folds on the inner corner of the eyes, excessive space between the big toe and the second toe, and a tongue that is large in relationship to size of the mouth.
Besides mental retardation, health issues associated with Down syndrome include congenital heart defects, and individuals suffering from Down syndrome may have a higher incidence of infections, respiratory problems, and vision and hearing impairments, as well as thyroid disorders and other medical conditions. With appropriate medical care most children and adults with Down syndrome lead healthy lives, living into their fifties and beyond.
Filing for Social Security Disability with a Down Syndrome Diagnosis
The SSA considers Down syndrome to be one of the “Impairments that Affect Multiple Body Systems” under Section 110.00. SSA differentiates between Non-Mosaic Down syndrome and Mosaic Down syndrome.
Non-Mosaic Down Syndrome
SSA considers those with Non-Mosaic Down syndrome disabled from birth and automatically eligible for Social Security disability benefits. For confirmation of a Non-Mosaic Down syndrome diagnosis, SSA requires a definitive chromosomal analysis (meaning a karyotype analysis) from an acceptable medical source that indicates existence of the impairment. The actual karyotype analysis showing the impairment should absolutely be included with a Social Security Disability application. When furnished with the actual karyotype analysis, SSA will not require the clinical description of the physical features of Down syndrome.
If you do not have the actual karyotype analysis, SSA will ask for a report from an acceptable medical source that includes the clinical description of the physical features of Down syndrome. The report must state that the karyotype analysis was conducted and that the results confirmed the diagnosis. The report must be consistent with other evidence in the case record, such as evidence of limitations in adaptive functioning, signs of a mental disorder that can be associated with Non-Mosaic Down syndrome, educational history, or results of psychological testing.
Mosaic Down Syndrome
The symptoms of Mosaic Down syndrome must significantly impair the ability to achieve gainful employment in order to qualify for Social Security Disability benefits. The SSA evaluates each applicant on a case by case basis. In addition, the particular body parts that are affected by Down syndrome must be impaired in certain ways that meet SSA criteria in order to qualify a person for disability benefits. The impairments must be medically determinable, and found in SSA’s disability listings. Alternatively, an impairment will qualify a claimant for benefits if it “functionally equals a listing.” The SSA’s disability evaluation process focuses on the functional limitations caused by the condition, and therefore Social Security Disability benefits can be awarded as long as the Mosaic Down syndrome condition is determined to be sufficiently limiting. The SSA considers the following in making its determination:
- Severity of Condition - the effects of Down syndrome must interfere with basic work-related activities for your claim to be considered.
- Work - if you are able to work, your earnings cannot average more than $1000 a month. If you were previously working but were forced to stop because of a condition related to your Down syndrome, the SSA will determine whether or not you may be able to return to your previous employment in the future. If you cannot do the work you did in the past, the SSA will determine if you are able to adjust to other work. This determination will consider your medical conditions, along with your age, education, past work experience and any transferable skills you may have.
- Related Disabling Conditions - for each major body system, SSA maintains a list of medical conditions so severe they automatically qualify a person for Social Security Disability benefits. Certain bodily functions impaired by Mosaic Down syndrome may qualify you for disabilities based on this list, but if your condition and/or symptoms do not meet the requirements specifically listed, the SSA will decide if your impairment is of equal severity to a medical condition on the list.
Your Down Syndrome Disability Case
If you are disabled by Down syndrome preventing you from achieving gainful employment, you are likely entitled to Social Security Disability (SSDI) benefits. By working closely with medical professionals and a qualified Social Security disability attorney or advocate to collect and present the appropriate documentation to support your disability claim, you can be sure that your disability case will have the highest possible chance of success.