[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
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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]]
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c. Revising section 10.00 in part A;
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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