[Federal Register Volume 78, Number 23 (Monday, February 4, 2013)]
[Rules and Regulations]
[Pages 7659-7662]
From the Federal Register Online via the Government Publishing Office [www.gpo.gov]
[FR Doc No: 2013-02169]


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SOCIAL SECURITY ADMINISTRATION

20 CFR Part 404

[Docket No. SSA-2009-0039]
RIN 0960-AH04


Revised Medical Criteria for Evaluating Congenital Disorders That 
Affect Multiple Body Systems

AGENCY: Social Security Administration.

ACTION: Final rule.

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SUMMARY: We are revising the criteria in the Listing of Impairments 
(listings) that we use to evaluate cases involving impairments that 
affect multiple body systems in adults and children under titles II and 
XVI of the Social Security Act (Act). The revisions reflect our program 
experience and address adjudicator questions we have received since we 
last comprehensively revised this body system in 2005. We do not expect 
any decisional differences due to the revisions in this body system.

[[Page 7660]]


DATES: These rules are effective April 5, 2013.

FOR FURTHER INFORMATION CONTACT: Cheryl Williams, Office of Medical 
Listings Improvement, Social Security Administration, 6401 Security 
Boulevard, Baltimore, Maryland 21235-6401, (410) 965-1020. For 
information on eligibility or filing for benefits, call our national 
toll-free number, 1-800-772-1213, or TTY 1-800-325-0778, or visit our 
Internet site, Social Security Online, at http://www.socialsecurity.gov.

SUPPLEMENTARY INFORMATION:

Background

    We are making final the rules for evaluating congenital disorders 
that affect multiple body systems we proposed in a notice of proposed 
rulemaking (NPRM) we published in the Federal Register on October 25, 
2011 (76 FR 66006). The preamble to the NPRM provides a full 
explanation of the background of these revisions. We are not repeating 
that information here because we are adopting our proposed rules 
without change. You can view the preamble to the NPRM by visiting 
www.regulations.gov and searching for document ``SSA-2009-0039-0004.''

Why are we revising the listings for evaluating congenital disorders 
that affect multiple body systems?

    We are revising the listings for evaluating congenital disorders 
that affect multiple body systems to update the medical criteria, 
clarify how we evaluate congenital disorders, and address adjudicator 
questions.

When will we begin to use these final rules?

    We will begin to use these final rules on their effective date. We 
will continue to use the current listings until the date these final 
rules become effective. We will apply the final rules to new 
applications filed on or after the effective date of these final rules 
and to claims that are pending on or after the effective date.\1\ These 
final rules will remain in effect for 5 years after the date they 
become effective, unless we extend them, or revise and issue them 
again.
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    \1\ This means that we will use these final rules on and after 
their effective date, in any case in which we make a determination 
or decision. We expect that Federal courts will review our final 
decisions using the rules that were in effect at the time we issued 
the decisions. If a court reverses the our final decision and 
remands a case for further administrative proceedings after the 
effective date of these final rules, we will apply these final rules 
to the entire period at issue in the decision we make after the 
court's remand.
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Public Comments

    In the NPRM, we provided the public with a 60-day comment period, 
which ended on December 27, 2011. We received one public comment 
letter. The comment came from a national group representing disability 
examiners in the State agencies that make disability determinations for 
us.
    Below we provide a summary of points that were relevant to this 
rulemaking and our responses. We tried to present the commenter's 
concerns and suggestions accurately and completely.
    Comment: The commenter suggested revisions to the proposed criteria 
for meeting listings 10.06 and 110.06 Non-mosaic Down syndrome. The 
commenter suggested that an individual be found to meet the criteria of 
the listings unless chromosomal analysis shows a diagnosis of mosaic 
Down syndrome.
    Response: We are not adopting this comment because we do not agree 
with the suggestion that an individual should be found to meet listings 
10.06 or 110.06 unless chromosomal analysis shows a diagnosis of mosaic 
Down syndrome. We believe that the evidence needs to confirm a 
diagnosis of non-mosaic Down syndrome. Our rules specify that mosaic 
Down syndrome does not meet the criteria of our listings. However, it 
could satisfy the criteria of listings in other body systems, depending 
on the severity of the manifestations.
    Comment: The commenter also stated that fluorescence in situ 
hybridization (FISH) testing could differentiate non-mosaic from mosaic 
Down syndrome. The commenter suggested that we use this test in 
combination with a clinical description of diagnostic physical features 
and a diagnosis from an acceptable medical source to meet listings 
10.06 and 110.06.
    Response: We do not agree that we should use FISH testing when we 
evaluate non-Mosaic Down syndrome under listings 10.06 and 110.06. FISH 
testing does not distinguish between mosaic and non-mosaic Down 
syndrome. Karyotype analysis is the only stand-alone method of 
chromosomal analysis acceptable for confirming non-mosaic Down 
syndrome.

What is our authority to make rules and set procedures for determining 
whether a person is disabled under the statutory definition?

    The Act authorizes us to make rules and regulations and to 
establish necessary and appropriate procedures to implement them. 
Sections 205(a), 702(a)(5), and 1631(d)(1).

Regulatory Procedures

Executive Order 12866, as Supplemented by Executive Order 13563

    We have consulted with the Office of Management and Budget (OMB) 
and determined that these final rules meet the criteria for a 
significant regulatory action under Executive Order 12866, as 
supplemented by Executive Order 13563. Therefore, OMB reviewed them.

Regulatory Flexibility Act

    We certify that these final rules will not have a significant 
economic impact on a substantial number of small entities because they 
affect individuals only. Therefore, the Regulatory Flexibility Act, as 
amended, does not require us to prepare a regulatory flexibility 
analysis.

Paperwork Reduction Act

    These rules do not create any new or affect any existing 
collections and, therefore, do not require Office of Management and 
Budget approval under the Paperwork Reduction Act.

(Catalog of Federal Domestic Assistance Program Nos. 96.001, Social 
Security--Disability Insurance; 96.002, Social Security--Retirement 
Insurance; 96.004, Social Security--Survivors Insurance; and 96.006, 
Supplemental Security Income)

List of Subjects in 20 CFR Part 404

    Administrative practice and procedure; Blind, Disability benefits; 
Old-age, Survivors, and Disability Insurance; Reporting and 
recordkeeping requirements; Social Security.

Michael J. Astrue,
Commissioner of Social Security.
    For the reasons set out in the preamble, we are amending 20 CFR 
part 404 subpart P as set forth below:

PART 404--FEDERAL OLD-AGE, SURVIVORS AND DISABILITY INSURANCE 
(1950- )

Subpart P--[Amended]

0
1. The authority citation for subpart P of part 404 continues to read 
as follows:

    Authority: Secs. 202, 205(a)-(b) and (d)-(h), 216(i), 221(a), 
(i), and (j), 222(c), 223, 225, and 702(a)(5) of the Social Security 
Act (42 U.S.C. 402, 405(a)-(b) and (d)-(h), 416(i), 421(a), (i), and 
(j), 422(c), 423, 425, and 902(a)(5)); sec. 211(b), Pub. L. 104-193, 
110 Stat. 2105, 2189; sec. 202, Pub. L. 108-203, 118 Stat. 509 (42 
U.S.C. 902 note).


0
2. Amend appendix 1 to subpart P of part 404 by
0
a. Revising item 11 of the introductory text;
0
b. Revising the body system name in part A for section 10.00 in the 
table of contents;

[[Page 7661]]

0
c. Revising section 10.00 in part A;
0
d. Revising the body system name in part B for section 110.00 in the 
table of contents; and
0
e. Revising section 110.00 in part B.
    The revisions read as follows:

Appendix 1 to Subpart P of Part 404--Listing of Impairments

* * * * *
    11. Congenital Disorders That Affect Multiple Body Systems 
(10.00 and 110.00): [Insert date 5 years from the effective date of 
the final rules].
* * * * *

10.00 Congenital Disorders That Affect Multiple Body Systems

* * * * *

Part A

* * * * *

10.00 Congenital Disorders that Affect Multiple Body Systems

    A. Which disorder do we evaluate under this body system? 
Although Down syndrome exists in non-mosaic and mosaic forms, we 
evaluate only non-mosaic Down syndrome under this body system.
    B. What is non-mosaic Down syndrome? Non-mosaic Down syndrome is 
a genetic disorder. Most people with non-mosaic Down syndrome have 
three copies of chromosome 21 in all of their cells (chromosome 21 
trisomy); some have an extra copy of chromosome 21 attached to a 
different chromosome in all of their cells (chromosome 21 
translocation). Virtually all people with non-mosaic Down syndrome 
have characteristic facial or other physical features, delayed 
physical development, and intellectual disability. People with non-
mosaic Down syndrome may also have congenital heart disease, 
impaired vision, hearing problems, and other disorders. We evaluate 
non-mosaic Down syndrome under 10.06. If you have non-mosaic Down 
syndrome documented as described in 10.00C, we consider you disabled 
from birth.
    C. What evidence do we need to document non-mosaic Down syndrome 
under 10.06?
    1. Under 10.06A, we will find you disabled based on laboratory 
findings.
    a. To find that your disorder meets 10.06A, we need a copy of 
the laboratory report of karyotype analysis, which is the definitive 
test to establish non-mosaic Down syndrome. We will not purchase 
karyotype analysis. We will not accept a fluorescence in situ 
hybridization (FISH) test because it does not distinguish between 
the mosaic and non-mosaic forms of Down syndrome.
    b. If a physician (see Sec. Sec.  404.1513(a)(1) and 
416.913(a)(1) of this chapter) has not signed the laboratory report 
of karyotype analysis, the evidence must also include a physician's 
statement that you have Down syndrome.
    c. For purposes of 10.06A, we do not require additional evidence 
stating that you have the distinctive facial or other physical 
features of Down syndrome.
    2. If we do not have a laboratory report of karyotype analysis 
showing that you have non-mosaic Down syndrome, we may find you 
disabled under 10.06B or 10.06C.
    a. Under 10.06B, we need a physician's report stating: (i) your 
karyotype diagnosis or evidence that documents your type of Down 
syndrome is consistent with prior karyotype analysis (for example, 
reference to a diagnosis of ``trisomy 21''), and (ii) that you have 
the distinctive facial or other physical features of Down syndrome. 
We do not require a detailed description of the facial or other 
physical features of the disorder. However, we will not find that 
your disorder meets 10.06B if we have evidence--such as evidence of 
functioning inconsistent with the diagnosis--that indicates that you 
do not have non-mosaic Down syndrome.
    b. If we do not have evidence of prior karyotype analysis (you 
did not have testing, or you had testing but we do not have 
information from a physician about the test results), we will find 
that your disorder meets 10.06C if we have: (i) a physician's report 
stating that you have the distinctive facial or other physical 
features of Down syndrome, and (ii) evidence that your functioning 
is consistent with a diagnosis of non-mosaic Down syndrome. This 
evidence may include medical or nonmedical information about your 
physical and mental abilities, including information about your 
education, work history, or the results of psychological testing. 
However, we will not find that your disorder meets 10.06C if we have 
evidence--such as evidence of functioning inconsistent with the 
diagnosis--that indicates that you do not have non-mosaic Down 
syndrome.
    D. How do we evaluate mosaic Down syndrome and other congenital 
disorders that affect multiple body systems?
    1. Mosaic Down syndrome. Approximately 2 percent of people with 
Down syndrome have the mosaic form. In mosaic Down syndrome, there 
are some cells with an extra copy of chromosome 21 and other cells 
with the normal two copies of chromosome 21. Mosaic Down syndrome 
can be so slight as to be undetected clinically, but it can also be 
profound and disabling, affecting various body systems.
    2. Other congenital disorders that affect multiple body systems. 
Other congenital disorders, such as congenital anomalies, 
chromosomal disorders, dysmorphic syndromes, inborn metabolic 
syndromes, and perinatal infectious diseases, can cause deviation 
from, or interruption of, the normal function of the body or can 
interfere with development. Examples of these disorders include both 
the juvenile and late-onset forms of Tay-Sachs disease, trisomy X 
syndrome (XXX syndrome), fragile X syndrome, phenylketonuria (PKU), 
caudal regression syndrome, and fetal alcohol syndrome. For these 
disorders and other disorders like them, the degree of deviation, 
interruption, or interference, as well as the resulting functional 
limitations and their progression, may vary widely from person to 
person and may affect different body systems.
    3. Evaluating the effects of mosaic Down syndrome or another 
congenital disorder under the listings. When the effects of mosaic 
Down syndrome or another congenital disorder that affects multiple 
body systems are sufficiently severe we evaluate the disorder under 
the appropriate affected body system(s), such as musculoskeletal, 
special senses and speech, neurological, or mental disorders. 
Otherwise, we evaluate the specific functional limitations that 
result from the disorder under our other rules described in 10.00E.
    E. What if your disorder does not meet a listing? If you have a 
severe medically determinable impairment(s) that does not meet a 
listing, we will consider whether your impairment(s) medically 
equals a listing. See Sec. Sec.  404.1526 and 416.926 of this 
chapter. If your impairment(s) does not meet or medically equal a 
listing, you may or may not have the residual functional capacity to 
engage in substantial gainful activity. We proceed to the fourth, 
and if necessary, the fifth steps of the sequential evaluation 
process in Sec. Sec.  404.1520 and 416.920 of this chapter. We use 
the rules in Sec. Sec.  404.1594 and 416.994 of this chapter, as 
appropriate, when we decide whether you continue to be disabled.

10.01 Category of Impairments, Congenital Disorders That Affect 
Multiple Body Systems

    10.06 Non-mosaic Down syndrome (chromosome 21 trisomy or 
chromosome 21 translocation), documented by:
    A. A laboratory report of karyotype analysis signed by a 
physician, or both a laboratory report of karyotype analysis not 
signed by a physician and a statement by a physician that you have 
Down syndrome (see 10.00C1), or
    B. A physician's report stating that you have chromosome 21 
trisomy or chromosome 21 translocation consistent with prior 
karyotype analysis with the distinctive facial or other physical 
features of Down syndrome (see 10.00C2a), or
    C. A physician's report stating that you have Down syndrome with 
the distinctive facial or other physical features and evidence 
demonstrating that you function at a level consistent with non-
mosaic Down syndrome (see 10.00C2b).
* * * * *

110.00 Congenital Disorders That Affect Multiple Body Systems

* * * * *

Part B

* * * * *

110.00 Congenital Disorders That Affect Multiple Body Systems

    A. Which disorders do we evaluate under this body system? We 
evaluate non-mosaic Down syndrome and catastrophic congenital 
disorders under this body system.
    B. What is non-mosaic Down syndrome? Non-mosaic Down syndrome is 
a genetic disorder. Most children with non-mosaic Down syndrome have 
three copies of chromosome 21 in all of their cells (chromosome 21 
trisomy); some have an extra copy of chromosome 21 attached to a 
different chromosome in all of their cells (chromosome 21 
translocation). Virtually all children with non-mosaic Down syndrome 
have characteristic facial or other physical features, delayed 
physical development, and intellectual disability. Children with 
non-mosaic Down syndrome may also have

[[Page 7662]]

congenital heart disease, impaired vision, hearing problems, and 
other disorders. We evaluate non-mosaic Down syndrome under 110.06. 
If you have non-mosaic Down syndrome documented as described in 
110.00C, we consider you disabled from birth.
    C. What evidence do we need to document non-mosaic Down syndrome 
under 110.06?
    1. Under 110.06A, we will find you disabled based on laboratory 
findings.
    a. To find that your disorder meets 110.06A, we need a copy of 
the laboratory report of karyotype analysis, which is the definitive 
test to establish non-mosaic Down syndrome. We will not purchase 
karyotype analysis. We will not accept a fluorescence in situ 
hybridization (FISH) test because it does not distinguish between 
the mosaic and non-mosaic forms of Down syndrome.
    b. If a physician (see Sec. Sec.  404.1513(a)(1) and 
416.913(a)(1) of this chapter) has not signed the laboratory report 
of karyotype analysis, the evidence must also include a physician's 
statement that you have Down syndrome.
    c. For purposes of 110.06A, we do not require evidence stating 
that you have the distinctive facial or other physical features of 
Down syndrome.
    2. If we do not have a laboratory report of karyotype analysis 
documenting that you have non-mosaic Down syndrome, we may find you 
disabled under 110.06B or 110.06C.
    a. Under 110.06B, we need a physician's report stating: (i) your 
karyotype diagnosis or evidence that documents your type of Down 
syndrome that is consistent with prior karyotype analysis (for 
example, reference to a diagnosis of ``trisomy 21'') and (ii) that 
you have the distinctive facial or other physical features of Down 
syndrome. We do not require a detailed description of the facial or 
other physical features of the disorder. However, we will not find 
that your disorder meets 110.06B if we have evidence--such as 
evidence of functioning inconsistent with the diagnosis--that 
indicates that you do not have non-mosaic Down syndrome.
    b. If we do not have evidence of prior karyotype analysis (you 
did not have testing, or you had testing but we do not have 
information from a physician about the test results), we will find 
that your disorder meets 110.06C if we have: (i) a physician's 
report stating that you have the distinctive facial or other 
physical features of Down syndrome and (ii) evidence that your 
functioning is consistent with a diagnosis of non-mosaic Down 
syndrome. This evidence may include medical or nonmedical 
information about your physical and mental abilities, including 
information about your development, education, work history, or the 
results of psychological testing. However, we will not find that 
your disorder meets 110.06C if we have evidence--such as evidence of 
functioning inconsistent with the diagnosis--that indicates that you 
do not have non-mosaic Down syndrome.
    D. What are catastrophic congenital disorders? Some catastrophic 
congenital disorders, such as anencephaly, cyclopia, chromosome 13 
trisomy (Patau syndrome or trisomy D), and chromosome 18 trisomy 
(Edwards' syndrome or trisomy E), are usually expected to result in 
early death. Others such as cri du chat syndrome (chromosome 5p 
deletion syndrome) and the infantile onset form of Tay-Sachs disease 
interfere very seriously with development. We evaluate catastrophic 
congenital disorders under 110.08. The term ``very seriously'' in 
110.08 has the same meaning as in the term ``extreme'' in Sec.  
416.926a(e)(3) of this chapter.
    E. What evidence do we need under 110.08?
    We need one of the following to determine if your disorder meets 
110.08A or B:
    1. A laboratory report of the definitive test that documents 
your disorder (for example, genetic analysis or evidence of 
biochemical abnormalities) signed by a physician.
    2. A laboratory report of the definitive test that documents 
your disorder that is not signed by a physician and a report from a 
physician stating that you have the disorder.
    3. A report from a physician stating that you have the disorder 
with the typical clinical features of the disorder and that you had 
definitive testing that documented your disorder. In this case, we 
will find that your disorder meets 110.08A or B unless we have 
evidence that indicates that you do not have the disorder.
    4. If we do not have the definitive laboratory evidence we need 
under E1, E2, or E3, we will find that your disorder meets 110.08A 
or B if we have: (i) a report from a physician stating that you have 
the disorder and that you have the typical clinical features of the 
disorder, and (ii) other evidence that supports the diagnosis. This 
evidence may include medical or nonmedical information about your 
development and functioning.
    5. For obvious catastrophic congenital anomalies that are 
expected to result in early death, such as anencephaly and cyclopia, 
we need evidence from a physician that demonstrates that the infant 
has the characteristic physical features of the disorder. In these 
rare cases, we do not need laboratory testing or any other evidence 
that confirms the disorder.
    F. How do we evaluate mosaic Down syndrome and other congenital 
disorders that affect multiple body systems?
    1. Mosaic Down syndrome. Approximately 2 percent of children 
with Down syndrome have the mosaic form. In mosaic Down syndrome, 
there are some cells with an extra copy of chromosome 21 and other 
cells with the normal two copies of chromosome 21. Mosaic Down 
syndrome can be so slight as to be undetected clinically, but it can 
also be profound and disabling, affecting various body systems.
    2. Other congenital disorders that affect multiple body systems. 
Other congenital disorders, such as congenital anomalies, 
chromosomal disorders, dysmorphic syndromes, inborn metabolic 
syndromes, and perinatal infectious diseases, can cause deviation 
from, or interruption of, the normal function of the body or can 
interfere with development. Examples of these disorders include both 
the juvenile and late-onset forms of Tay-Sachs disease, trisomy X 
syndrome (XXX syndrome), fragile X syndrome, phenylketonuria (PKU), 
caudal regression syndrome, and fetal alcohol syndrome. For these 
disorders and other disorders like them, the degree of deviation, 
interruption, or interference, as well as the resulting functional 
limitations and their progression, may vary widely from child to 
child and may affect different body systems.
    3. Evaluating the effects of mosaic Down syndrome or another 
congenital disorder under the listings. When the effects of mosaic 
Down syndrome or another congenital disorder that affects multiple 
body systems are sufficiently severe we evaluate the disorder under 
the appropriate affected body system(s), such as musculoskeletal, 
special senses and speech, neurological, or mental disorders. 
Otherwise, we evaluate the specific functional limitations that 
result from the disorder under our other rules described in 110.00G.
    G. What if your disorder does not meet a listing? If you have a 
severe medically determinable impairment(s) that does not meet a 
listing, we will consider whether your impairment(s) medically 
equals a listing. See Sec.  416.926 of this chapter. If your 
impairment(s) does not meet or medically equal a listing, we will 
consider whether it functionally equals the listings. See Sec. Sec.  
416.924a and 416.926a of this chapter. We use the rules in Sec.  
416.994a of this chapter when we decide whether you continue to be 
disabled.

110.01 Category of Impairments, Congenital Disorders That Affect 
Multiple Body Systems

    110.06 Non-mosaic Down syndrome (chromosome 21 trisomy or 
chromosome 21 translocation), documented by:
    A. A laboratory report of karyotype analysis signed by a 
physician, or both a laboratory report of karyotype analysis not 
signed by a physician and a statement by a physician that the child 
has Down syndrome (see 110.00C1), or
    B. A physician's report stating that the child has chromosome 21 
trisomy or chromosome 21 translocation consistent with karyotype 
analysis with the distinctive facial or other physical features of 
Down syndrome (see 110.00C2a), or
    C. A physician's report stating that the child has Down syndrome 
with the distinctive facial or other physical features and evidence 
demonstrating that the child is functioning at the level of a child 
with non-mosaic Down syndrome (see 110.00C2b).
    110.08 A catastrophic congenital disorder (see 110.00D and 
110.00E) with:
    A. Death usually expected within the first months of life, or
    B. Very serious interference with development or functioning.
* * * * *
[FR Doc. 2013-02169 Filed 2-1-13; 8:45 am]
BILLING CODE 4191-02-P