Revised Medical Criteria for Evaluating Impairments that Affect Multiple Body Systems
Final Rule Effective October 31, 2005
The rule for this listing did not really change significantly from the old listing. The Social Security Administration (SSA) mainly added clarifying information about the listing, which I have summarized below.
10.00 Impairments That Affect Multiple Body Systems
10.01 Category of Impairments, Impairments That Affect Multiple Body Systems
10.06 Non-mosaic Down syndrome, established as described in 10.00B.
10.00 B. What Documentation Do We Need To Establish That You Have Non-Mosaic Down Syndrome?
1. General. We need documentation from an acceptable medical source, as defined in §§ 404.1513 (a) and 416.913(a), to establish that you have a medically determinable impairment.
2. Definitive chromosomal analysis. We will find that you have non-mosaic Down syndrome based on a report from an acceptable medical source that indicates that you have the impairment and that includes the actual laboratory report of definitive chromosomal analysis showing that you have the impairment. Definitive chromosomal analysis means karyotype analysis. In this case, we do not additionally require a clinical description of the diagnostic physical features of your impairment.
3. What if we do not have the results of definitive chromosomal analysis?
When we do not have the actual laboratory report of definitive chromosomal analysis, we need evidence from an acceptable medical source that includes a clinical description of the diagnostic physical features of Down syndrome, and that is persuasive that a positive diagnosis has been confirmed by definitive chromosomal analysis at some time prior to our evaluation. To be persuasive, the report must state that definitive chromosomal analysis was conducted and that the results confirmed the diagnosis. The report must be consistent with other evidence in your case record; for example, evidence showing your limitations in adaptive functioning or signs of a mental disorder that can be associated with non-mosaic Down syndrome, your educational history, or the results of psychological testing.
Down syndrome
- Also known as Trisomy 21
- Most common chromosomal abnormality of live births, with an incidence of 1/800
- Genetic condition in which there are three copies of chromosome 21 within the cells of the body instead of the normal two copies per cell
- This extra chromosomal material changes the orderly development of the body and brain
- Characterized by a complex of physical characteristics, delayed physical development, and mental retardation
Two types of Down syndrome:
- Non-mosaic Down syndrome
- Mosaic Down syndrome
Listing 10.06 Down syndrome is for adult non-mosaic Down syndrome only
Non-mosaic Down syndrome
- An impairment that commonly affects multiple body systems and considered significant enough to prevent any gainful activity
- Most severe form of Down syndrome in which functional abilities are always very poor
- An extra copy of chromosome 21 is in every cell of the body
- At least 98 percent of people with Down syndrome have this form
- Virtually all cases affect the mental, neurological, and skeletal systems
- Often accompanied by heart disease, impaired vision, hearing problems, and other conditions
Bottom line: If the chromosome study report proving non-mosaic Down syndrome is not in file, the medical file must contain an acceptable reference to the fact that testing was conducted and the results of the testing. The referenced results must be consistent with other evidence such as evidence showing limitations in adaptive functioning or signs of a mental disorder consistent with non-mosaic Down syndrome, the individual’s educational history, or the results of psychological testing.
Have the treating doctor write a brief statement saying that the applicant has had a test that proved the diagnosis of non-mosaic Down syndrome. And have the doctor describe the limitations of adaptive functioning, any special education, and any IQ test results.
Important: SSA considers adults with confirmed non-mosaic Down syndrome disabled from birth; therefore, listing 10.06 should expedite disability redeterminations at age 18 for individuals who were eligible for SSI as children on the basis of non-mosaic Down syndrome.
Mosaic Down syndrome
- Occurs when some cells have the normal two copies of chromosome 21 and some cells have an extra copy of chromosome 21
- Occurs in only 1–2 percent of people with Down syndrome
- Excluded from listing 10.06 because it may manifest in a wide range of impairment severity – from no obvious clinical impairment to profoundly disabling
- SSA evaluates adults with confirmed mosaic Down syndrome under the listing criteria in any affected body system(s) on an individual case basis
If an applicant has the most severe form of mosaic Down syndrome causing a degree of impairment that prevents gainful activity, listing 10.06 could not be met, but possibly equaled. Or SSA must consider whether the impairment meets the criteria of a listing for any another body system, such as a mental disorder like mental retardation.
How Does SSA Evaluate Other Impairments That Affect Multiple Body Systems?
If an individual has a different severe impairment(s) that affects multiple body systems, SSA must consider whether the impairment(s) meets the criteria of a listing in another body system. These impairments, other than non-mosaic Down Syndrome, would not be evaluated under listing 10.06, but would be evaluated under the listing(s) in which the body system(s) is affected.
Examples of impairments that can interrupt normal body function or interfere with development:
- Congenital anomalies – birth defects
- Other chromosomal disorders – genetic disorders
- Dysmorphic syndromes – syndromes from birth that produce abnormal body structure or malformations
- Metabolic disorders – genetic abnormalities of body metabolism, such as an enzyme deficiency
- Perinatal infectious diseases – infections occurring in the period around childbirth
In these impairments, the degree of interruption and associated functional limitations may vary widely from individual to individual. For this reason, SSA evaluates the specific effects of these impairments on individuals under the listing criteria in any affected body system(s) on an individual case basis.
Examples of specific other impairments include:
- Triple X syndrome (XXX syndrome) - chromosome abnormality in which females are usually taller than average, may have menstrual irregularities, and may have mental impairments
- Fragile X syndrome – most common inherited cause of mental retardation and may cause enlarged testes, and facial abnormalities
- Phenylketonuria (PKU) – genetic disorder causing a lack of the enzyme needed to break down the amino acid phenylalanine, which can cause brain damage and progressive mental retardation
- Caudal regression syndrome – congenital disorder, which causes abnormal development of the lower spine, underdevelopment of the legs, and genitourinary and gastrointestinal abnormalities
- Fetal alcohol syndrome – birth defects resulting from alcohol use by the mother during pregnancy causing growth retardation, head and facial abnormalities, neurological abnormalities and developmental delay