Revised Medical Criteria for Evaluating Congenital Disorders That Affect Multiple Body Systems, 66006-66011 [2011-27357]

Agencies

• Social Security Administration

[Federal Register Volume 76, Number 206 (Tuesday, October 25, 2011)]
[Proposed Rules]
[Pages 66006-66011]
From the Federal Register Online via the Government Printing 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 https://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 https://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 https://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 
https://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\
---------------------------------------------------------------------------

    \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
------------------------------------------------------------------------
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

[[Page 66011]]

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