[Federal Register Volume 76, Number 206 (Tuesday, October 25, 2011)]
[Proposed Rules]
[Pages 66006-66011]
From the Federal Register Online via the Government Publishing Office [www.gpo.gov]
[FR Doc No: 2011-27357]
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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: Notice of proposed rulemaking (NPRM).
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SUMMARY: We propose to revise 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 proposed
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
the revisions in this body system.
DATES: To ensure that your comments are considered, we must receive
them by no later than December 27, 2011.
ADDRESSES: You may submit comments by any one of three methods--
Internet, fax, or mail. Do not submit the same comments multiple times
or by more than one method. Regardless of which method you choose,
please state that your comments refer to Docket No. SSA-2009-0039 so
that we may associate your comments with the correct regulation.
Caution: You should be careful to include in your comments only
information that you wish to make publicly available. We strongly urge
you not to include in your comments any personal information, such as
Social Security numbers or medical information.
1. Internet: We strongly recommend that you submit your comments
via the Internet. Visit the Federal eRulemaking portal at http://www.regulations.gov. Use the Search function to find docket number SSA-
2009-0039. The system will issue you a tracking number to confirm your
submission. You will not be able to view your comment immediately
because we must post each comment manually. It may take up to a week
for your comment to be viewable.
2. Fax: Fax comments to (410) 966-2830.
3. Mail: Address your comments to the Office of Regulations, Social
Security Administration, 107 Altmeyer Building, 6401 Security
Boulevard, Baltimore, Maryland 21235-6401.
Comments are available for public viewing on the Federal
eRulemaking portal at http://www.regulations.gov or in person, during
regular business hours, by arranging with the contact person identified
below.
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:
Why are we proposing to revise the listings for this body system?
We last published final rules making comprehensive revisions to the
multiple body systems listings on August 30, 2005.\1\ These listings
are scheduled to expire on October 31, 2013. However, we decided to
propose these revisions now to reflect our program experience and to
address adjudicator questions we have received since 2005.\2\
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\1\ 70 FR 51252.
\2\ We published an advance notice of proposed rulemaking
(ANPRM) on November 10, 2009. 74 FR 57971. In the ANPRM, we invited
interested people and organizations to send us written comments and
suggestions about whether and how we should revise these listings.
We received two comment letters. We said in the ANPRM that we would
not respond to the comment letters, and this NPRM does not reflect
the commenters' suggestions. You may read the comment letters at
http://www.regulations.gov by searching under docket number SSA-
2009-0039.
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What revisions are we proposing?
Most of the proposed rules are substantively the same as the
current ones. We propose to clarify and reorganize them. We also
propose to revise some rules to simplify them and to revise the
listings to include different methods for establishing the existence of
non-mosaic Down syndrome and other congenital disorders that affect
multiple body systems under the listings. We do not expect any
decisional differences due the revisions in this body sytem.
We propose to:
Revise the name of the body system from ``Impairments That
Affect Multiple Body Systems'' to ``Congenital Disorders That Affect
Multiple Body Systems'';
Reorganize and revise the introductory text for the adult
listings (section 10.00) and the childhood listings (section 110.00);
Revise adult listing 10.06 and childhood listing 110.06
for non-mosaic Down syndrome; and
Make editorial changes in childhood listing 110.08 for
catastrophic congenital disorders.
Why are we proposing to change the name of this body system?
We are proposing to change the name of this body system from
``Impairments That Affect Multiple Body Systems'' to ``Congenital
Disorders That Affect
[[Page 66007]]
Multiple Body Systems'' to clarify that we consider only certain
congenital disorders in this body system. We evaluate other disorders
that affect more than one body system under the listings that address
their specific effects. We evaluate congenital disorders with single
effects under other body systems.
What changes are we proposing to the introductory text of the multiple
body systems adult listings?
The following chart provides a comparison of the current
introductory text for adults and the proposed introductory text:
------------------------------------------------------------------------
Current introductory text Proposed introductory text
------------------------------------------------------------------------
10.00A What Impairment Do We Evaluate 10.00A Which disorder do we
Under This Body System? evaluate under this body
system?
10.00A1 General. Revised and included in
10.00A.
10.00A2 What is Down syndrome? Revised and included in
10.00B.
10.00A3 What is non-mosaic Down syndrome? 10.00B What is non-mosaic
Down syndrome?
10.00A4 What is mosaic Down syndrome? Revised and included in
10.00B and 10.00D.
10.00B What Documentation Do We Need To 10.00C What evidence do we
Establish That You Have Non-Mosaic Down need to document non-mosaic
Syndrome? Down syndrome under 10.06?
10.00B1 General. Revised and included in
10.00C.
10.00B2 Definitive chromosomal analysis. Revised and included in
10.00C.
10.00B3 What if we do not have the results Revised and included in
of definitive chromosomal analysis? 10.00C.
10.00C How Do We Evaluate Other 10.00D How do we evaluate
Impairments That Affect Multiple Body mosaic Down syndrome and
Systems? other congenital disorders
that affect multiple body
systems?
10.00D1 Mosaic Down
syndrome.
10.00D2 Other congenital
disorders that affect
multiple body systems.
10.00D3 Evaluating the
effects of mosaic Down
syndrome or another
congenital disorder under
the listing.
10.00E What if your disorder
does not meet a listing?
------------------------------------------------------------------------
As the chart illustrates, we are proposing to make minor revisions
to terms in the introductory text (for example, changing the word
``impairment'' to ``disorder'') and to reorganize the information in
the text. We are also proposing to make other changes that we discuss
below.
In proposed section 10.00A, we explain that, although there are two
forms of Down syndrome, we evaluate only the non-mosaic form under the
listing. Non-mosaic Down syndrome occurs when a person has three copies
of chromosome 21 in all of their cells or an extra copy of chromosome
21 attached to a different chromosome in all of their cells. Mosaic
Down syndrome occurs when some cells have an extra copy of chromosome
21 and other cells are normal, with only two copies of the chromosome.
The mosaic form is much less common than the non-mosaic form, and its
effects are less likely to be of listing-level severity. In section
10.00D of the proposed rules, we clarify our guidance in current
10.00A4b that we will evaluate impairment(s) caused by mosaic Down
syndrome in the appropriate body system, or if the disorder does not
meet a listing, consider whether the impairment(s) medically equals the
listings.
In proposed section 10.00B, we describe non-mosaic Down syndrome
and its effects. We propose to replace the term ``mental retardation''
with the term ``intellectual disability'' to conform with recent
legislation that revised certain Federal statutes that referred to
``mental retardation'' to use the term ``intellectual disability''
instead.\3\
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\3\ Rosa's Law, Pub. L. 111-256 (Oct. 5, 2010). It also revised
references from ``a mentally retarded individual'' to ``an
individual with an intellectual disability.''
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In proposed section 10.00C1, we explain that we need a copy of a
laboratory report of karyotype analysis to establish that a claimant's
non-mosaic Down syndrome meets proposed listing 10.06A. Karyotype
analysis clarifies whether the Down syndrome is the non-mosaic or
mosaic form. The report must either be signed by a physician or, if
unsigned, accompanied by a statement from a physician indicating that
the person has Down syndrome.
In proposed section 10.00C1, we explain that:
We will not purchase karyotype analysis, consistent with
our longstanding policy that we will not purchase genetic testing, and
We will not accept the fluorescence in situ hybridization
(FISH) test--a screening test--and that it is not equivalent to the
requirement for karyotype analysis.
Our rules require evidence from an ``acceptable medical source'' to
establish the existence of a medically determinable impairment, and a
physician is the only acceptable source for establishing that a person
has Down syndrome.\4\ The physician does not need to provide any
additional information to establish the existence of the disorder, as
we explain in proposed section 10.00C1c.
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\4\ We define the terms ``medically determinable impairment''
and ``acceptable medical source'' in 20 CFR 404.1508, 404.1513,
416.908, and 416.913.
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Proposed section 10.00C2 corresponds in part to current section
10.00B3 and explains the evidence we need to establish that a
claimant's non-mosaic Down syndrome meets the criteria of proposed
listing 10.06B or 10.06C.
In proposed section 10.00C2a, we explain how we would
establish that non-mosaic Down syndrome meets proposed listing 10.06B.
This proposed listing covers claimants who have had definitive
laboratory testing, but who have not provided us with a copy of their
laboratory reports. Our current rules require detailed evidence
describing a person's physical appearance and other evidence that is
``persuasive'' that the claimant has non-mosaic Down syndrome. Since
the great majority of people with Down syndrome have the non-mosaic
form, we will no longer require the physician to describe the person's
physical features. Instead, to meet proposed listing 10.06B, a
physician must report that (1) The claimant has Down syndrome that is
consistent with prior karyotype analysis and (2) the claimant has the
distinctive physical features of the disorder.
In proposed section 10.00C2b, we explain a new method for
establishing disability based on non-mosaic Down syndrome under
proposed listing 10.06C. The proposed listing, which is also based on
our adjudicative
[[Page 66008]]
experience, allows for a finding of disability when the claimant has
not had definitive laboratory testing or we have no information about
karyotype analysis results even if the person did have a test. Because
we do not have definitive test results, we would require a more
detailed description of the clinical features of the disorder and
evidence that the claimant's functioning is consistent with a diagnosis
of non-mosaic Down syndrome. The proposed provision would allow us to
find that a claimant does not have non-mosaic Down syndrome if we have
other evidence that is inconsistent with a diagnosis of the disorder.
This provision is similar to current 10.00B3 that provides ``the report
must be consistent with other evidence in your case record.'' While we
do not need to obtain additional evidence, we must consider any other
evidence in the case record to ensure that it is consistent with the
diagnosis.
What changes are we proposing to the multiple body systems listings for
adults?
We propose to revise current listing 10.06, Non-mosaic Down
syndrome, to make it more specific. A claimant can demonstrate that he
or she meets proposed listing 10.06 in one of three ways.
Under proposed listing 10.06A, a claimant can demonstrate
that he or she meets the listing based solely on a laboratory report of
karyotype analysis that a physician signed or on a laboratory report of
karyotype analysis that is not signed by a physician but is accompanied
by a physician's statement that the person has Down syndrome;
Under proposed listing 10.06B, a claimant can demonstrate
that he or she meets the listing based on a physician's statement that
the claimant has Down syndrome that is consistent with prior karyotype
analysis demonstrating chromosome 21 trisomy or chromosome 21
translocation and that the person has the distinctive physical features
of Down syndrome; and
Under proposed listing 10.06C, a person can meet the
listing when we do not have a copy of, or information about, laboratory
testing, but we have a physician's report that the person has Down
syndrome with distinctive physical features and evidence that the
person functions at a level consistent with non-mosaic Down syndrome.
What changes are we proposing to the introductory text of the
congenital disorders listings for children?
The following chart provides a comparison of the current
introductory text for children and the proposed introductory text:
------------------------------------------------------------------------
Current introductory text Proposed introductory text
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110.00A What Kinds of Impairments 110.00A Which disorders do we
Do We Evaluate Under This Body evaluate under this body system?
System?
110.00A1 General. Revised and included in 110.00A.
110.00A2 What is Down syndrome? Revised and included in 110.00B.
110.00A3 What is non-mosaic Down 110.00B What is non-mosaic Down
syndrome? syndrome?
110.00A4 What is mosaic Down Revised and included in 110.00F.
syndrome?
110.00A5 What are catastrophic Revised and included in 110.00D.
congenital abnormalities or
diseases?
110.00B What Documentation Do We 110.00C What evidence do we need to
Need To Establish That You Have an document non-mosaic Down syndrome
Impairment That Affects Multiple under 110.06?
Body Systems?
110.00B1 General. Revised and included in 110.00C.
110.00B2 Non-mosaic Down syndrome Revised and included in 110.00C.
(110.06)
110.00B3 Catastrophic congenital Revised and included in 110.00D and
abnormalities or diseases (110.08) 110.00E.
110.00D What are catastrophic
congenital disorders?
110.00E What evidence do we need
under 110.08?
110.00C How Do We Evaluate Other 110.00F How do we evaluate mosaic
Impairments That Affect Multiple Down syndrome and other congenital
Body Systems and That Do Not Meet disorders that affect multiple
the Criteria of the Listings in body systems?
This Body System?
110.00F1 Mosaic Down syndrome.
110.00F2 Other congenital disorders
that affect multiple body systems.
110.00F3 Evaluating the effects of
mosaic Down syndrome or another
congenital disorder under the
listings.
110.00G What if your disorder does
not meet a listing?
------------------------------------------------------------------------
We propose to reorganize and revise the introductory text as in the
adult rules. Since we are proposing the same changes in the childhood
rules that correspond to the adult rules, we do not summarize them
here. Proposed section 110.00C is identical to proposed section 10.00C
and includes a reference to a child's ``work history.'' We included
this phrase in the child rules because the listings in part B are for
people up to the age of 18, and some older adolescents have worked.
As under the current listings, the proposed childhood listings
include a listing that we do not include in the adult rules--proposed
listing 110.08 for ``catastrophic'' congenital disorders. We propose to
reorganize and clarify the introductory text that explains listing
110.08 as follows:
In proposed section 110.00D, we briefly explain the kinds
of disorders we would evaluate under proposed listing 110.08 and
provide some examples of these disorders. In the current rules, we
include these examples in listing 110.08. We propose to move them to
the introductory text so there is no implication that the examples in
current listings 110.08A and B are the sole disorders covered by these
listings.
Proposed section 110.00E corresponds to current section
110.00B3. We propose changes in this section to make it similar to
proposed sections 10.00C and 110.00C for non-mosaic Down syndrome. For
example, the current rule requires both a clinical description of the
diagnostic physical features of the disorder and the report of the
definitive laboratory study establishing the diagnosis. Since the
second requirement is for a definitive laboratory study, we do not
believe that we also need a description of the diagnostic clinical
features in such cases. We believe that we can simplify the rule and
make some favorable determinations more quickly.
[[Page 66009]]
What changes are we proposing to the congenital disorders listings for
children?
We propose to revise current listing 110.06, Non-mosaic Down
syndrome, in the same way as proposed adult listing 10.06. We would
revise listings 110.08A and B by moving the examples from these current
listings to proposed section 110.00D in the introductory text. We would
also replace the phrase ``profoundly impaired'' in listing 110.08A with
the phrase ``very serious interference'' the same phrase we use in
proposed listing 110.08B. Both listings should have the same severity
criterion. The criterion we propose is based on current listing
110.08B, which uses the phrase ``interferes very seriously'' and is a
term we use in other rules. We would also clarify in proposed section
110.00D that ``very seriously'' has the same meaning as our definition
of the term ``extreme'' in our rules for determining functional
equivalence for children.\5\
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\5\ See 20 CFR 416.926a(e)(3).
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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).
How long would these proposed rules be effective?
If we publish these proposed rules as final rules, they will remain
in effect for 5 years after the date they become effective, unless we
extend them, or revise and issue them again.
Clarity of These Proposed Rules
Executive Order 12866, as supplemented by Executive Order 13563,
requires each agency to write all rules in plain language. In addition
to your substantive comments on these proposed rules, we invite your
comments on how to make them easier to understand.
For example:
Would more, but shorter, sections be better?
Are the requirements in the rules clearly stated?
Have we organized the material to suit your needs?
Could we improve clarity by adding tables, lists, or
diagrams?
What else could we do to make the rules easier to
understand?
Do the rules contain technical language or jargon that is
not clear?
Would a different format make the rules easier to
understand, e.g., grouping and order of sections, use of headings,
paragraphing?
When will we start to use these rules?
We will not use these rules until we evaluate public comments and
publish final rules in the Federal Register. All final rules we issue
include an effective date. We will continue to use our current rules
until that date. If we publish final rules, we will include a summary
of those relevant comments we received along with responses and an
explanation of how we will apply the new rules.
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 this NPRM meets the criteria for a significant
regulatory action under Executive Order 12866, as supplemented by
Executive Order 13563. Therefore, OMB reviewed it.
Regulatory Flexibility Act
We certify that this NPRM 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 propose to amend 20 CFR
part 404 subpart P as set forth below:
PART 404--FEDERAL OLD-AGE, SURVIVORS AND DISABILITY INSURANCE
(1950- )
Subpart P--[Amended]
1. The authority citation for subpart P of part 404 is revised 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).
2. Amend appendix 1 to subpart P of part 404 by revising item 11 of
the introductory text before part A of appendix 1 to 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].
* * * * *
3. Amend part A of appendix 1 to subpart P of part 404 by revising
the body system name for section 10.00 in the table of contents to read
as follows:
* * * * *
10.00 Congenital Disorders That Affect Multiple Body Systems.
* * * * *
4. Revise section 10.00 in part A of appendix 1 to subpart P of
part 404 to read as follows:
* * * * *
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.
[[Page 66010]]
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).
* * * * *
5. Amend part B of appendix 1 to subpart P of part 404 by
revising the body system name in section 110.00 in the table of
contents to read as follows:
* * * * *
110.00 Congenital Disorders That Affect Multiple Body Systems
* * * * *
6. Revise section 110.00 in part B of appendix 1 to subpart P of
part 404 to read as follows:
Appendix 1 to Subpart P of Part 404--Listing of Impairments
* * * * *
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 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
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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. 2011-27357 Filed 10-24-11; 8:45 am]
BILLING CODE 4191-02-P