PROGRAM OPERATIONS MANUAL SYSTEMPart DI – Disability InsuranceChapter 230 – Special IssuesSubchapter 22 – Processing Quick Disability Determination (QDD) and Compassionate Allowance (CAL) in the Disability Determination Services (DDS)Transmittal No. 28, 08/13/2020
This transmittal contains additions to the Program Operations Manual System (POMS) sections for Processing Quick Disability Determination (QDD) and Compassionate Allowance (CAL) in subchapter DI 23022. The new POMS sections are:
DI 23022.146 Desmoplastic Round Cell Tumors
DI 23022.186 GM1 - Gangliodosis - Infantile & Juvenile Forms
DI 23022. 236 Nicolaides-Baraitser Syndrome
DI 23022.287 Rubinstein-Taybi Syndrome
DI 23022.298 Secondary Adenocarcinoma of the Brain
The information in these new sections includes content to comply with the Social Security Administration’s plain language initiative and updates to policy guidance.
Summary of Changes
DI 23022.146 Desmoplastic Small Round Cell Tumors
Added list of alternate names to "Alternate Names" section;
Added description of conditions to "Description" section;
Added diagnostic testing, physical findings, ICD-9-CM, and ICD-10-CM information to "Diagnostic Testing, Physical Findings, and ICD-9-CM/ICD-10-CM Coding" section;
Added information about the progression of the condition to the "Progression" section;
Added information about the treatment of the condition to the "Treatment" section;
Added guidance on what MER should be considered when evaluating claims with this condition alleged in the "Suggested MER for Evaluation" section; and
Added guidance on what listings could be met or equaled when evaluating claims with this condition alleged in the "Suggested Listings for Evaluation" section.
Added list of alternate names to "Alternate Names" section;Added description of conditions to "Description" section;
DI 23022.236 Nicolaides-Baraitser Syndrome
Added description of conditions to "Description" section;Added diagnostic testing, physical findings, ICD-9-CM, and ICD-10-CM information to "Diagnostic Testing, Physical Findings, and ICD-9-CM/ICD-10-CM Coding" section;
DSRCT; Desmoplastic small round-cell tumor
Desmoplastic small round cell tumor (DSRCT) is a rare, highly aggressive type of soft tissue cancer (sarcoma) that usually begins in the abdomen. It primarily affects children and young adults and is more common in males. It is formed by small, round cancer cells surrounded by scar-like tissue and is often found in the tissue (peritoneum) that lines the inside of the abdomen and pelvis.
DSRCT often is not diagnosed until the cancer is advanced, tumors grow large and spread through the lymph system or blood stream to other parts of the body. They can spread to many areas of the body, including the lymph nodes, lungs, bone, and liver.
DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM
testing: A diagnosis of DSRCT is usually made by a combination of the histologic appearance and immunohistochemical staining results from a biopsy specimen.
Other testing may include:
Cytogenic analysis; and
Fluorescence in situ hybridization (FISH).
Abdominal pain and a feeling of fullness;
Hepatomegaly (enlarged liver);
Nausea and vomiting;
Ileus (obstruction of ileum or other part of the intestine); and
Symptoms of gastrointestinal obstruction, such as constipation.
DSRCT typically arises in serous lined surfaces of the abdominal or pelvic peritoneum, and spreads to the omentum, lymph nodes, and hematogenously (carried by blood) disseminates especially to the liver.
Treatment of DSRCT may include chemotherapy, hyperthermic intraperitoneal chemotherapy (HIPEC), radiation therapy, surgery, and stem cell transplantation. DSRCT is often resistant to treatment and frequently recurs. Despite aggressive therapy, 3-year overall survival has been estimated at 44% and the 5-year survival rate remains around 15%.
SUGGESTED PROGRAMMATIC ASSESSMENT*
Suggested MER for Evaluation:
Clinical history and examination that describes diagnostic features of the impairment;
Results of cytogenic analysis or FISH testing; and
Results of immunohistochemical staining.
113.03 A or B
13.04 A or B
* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.
COMPASSIONATE ALLOWANCE INFORMATION
GM1 gangliosidosis type I; GM1 gangliosidosis type II; beta-galactosidase-1 (GLB1) deficiency; GLB1 deficiency; Landing disease; type 1 GM1 gangliosidosis; type 2 GM1 gangliosidosis; Beta-galactosidosis; Classic infantile (type 1) GM1 gangliosidosis; Juvenile (type 2) GM1 gangliosidosis
GM1 gangliosidosis is a rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological, and dysmorphic features.
DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM
Diagnosis may be difficult due to the wide clinical spectrum of the disease. Diagnosis is confirmed by:
Biochemical assay of beta-galactosidase activity and/or by molecular genetic testing; and
A secondary combined defect of both GLB1 and neuraminidase (NEU1) has to be excluded.
Other diagnostic testing includes:
Peripheral blood smear (testing vacuolated lymphocytes);
Urine oligosaccharides; and
Bone marrow examination.
Physical findings: Physical findings for types 1 and 2 GM1 gangliodosis may include:
Gingival hypertrophy (enlarged gums);
Cardiomyopathy (enlarged, weakened heart muscle);
Enlarged organs inside of the abdomen, including liver, spleen, stomach, kidneys, or pancreas (visceromegaly);
Abnormal development of bones (dysostosis);
Difficulties with speech; and
Infants with Type 1 GM1 gangliosidosis typically appear normal until around 6 months of age when their development slows and muscles used for movement weaken. Affected children typically do not live past 2 years of age.
Type 2 GM1 gangliosidosis consists of intermediate forms of the condition, also known as the late infantile and juvenile forms. Children with GM1 gangliosidosis type 2 have normal early development, but they begin to develop signs and symptoms of the condition around the age of 18 months (late infantile form) or 5 years (juvenile form). Infants with GM1 gangliosidosis type 2 experience developmental regression but usually do not have cherry-red spots, distinctive facial features, or enlarged organs. Type 2 usually progresses more slowly than type 1, but still causes a shortened life expectancy. Children with the late infantile form typically survive into mid-childhood, while those with the juvenile form may live into early adulthood.
Treatment for GM1 gangliosidosis is symptomatic and supportive. Substrate reduction therapy is a potential approach for clinical trials in late-onset forms. Prognosis depends on the type of GM1 gangliosidosis and is extremely poor in the severe infantile form.
Results of genetic testing confirming diagnosis of the impairment; and
Definitive results of other diagnostic testing.
Sparse hair and mental retardation; NCBRS; NBS; Intellectual disability-sparse hair-brachydactyly syndrome
Nicolaides-Baraitser syndrome (NCBRS) is a very rare condition characterized by severe intellectual disability and various physical features. Features of the condition can worsen over time. NCBRS is caused by mutations in the SMARCA2 gene and is inherited in an autosomal dominant manner. However, all cases of NCBRS reported to date have been sporadic, occurring in people with no family history of NCBRS.
DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND
Genetic testing showing mutations in the SMARCA2 gene.
Nose with a broad base, thick nostrils, and upturned tip;
Broad philtrum (indentation in middle of upper lip);
Narrow and or down-slanting palpebral fissures (width of the eyes);
Short fingers and toes (brachydactyly); and
Prominent joints of the fingers and toes (interphalangeal joints).
Most individuals with NCBRS have epilepsy, which often begins in infancy. Affected individuals can experience multiple seizure types, and the seizures can be difficult to control with medication.
All individuals with NCBRS has moderate to severe intellectual disability. Early developmental milestones, such as crawling and walking, are often normally achieved, but further development is limited, and language development is severely impaired. At least one-third of affected individuals never develop speech, while others lose their verbal communication over time. People with this condition are often described as having a happy demeanor and being very friendly, although they can exhibit moments of aggression and temper tantrums.
While some features of NCBRS are always present, there is variability, and the severity of features may range from mild to severe. Therefore, the long-term outlook may vary among affected people.
Treatment of NCBRS focuses on managing individual symptoms. Depending on the symptoms present, treatment might include medication, occupational therapy, physical therapy, speech therapy, and hearing aids. Seizures are treated with anti-convulsant medications.
SUGGESTED PROGRAMMATIC ASSESSMENT*
Clinical history and examination that describes diagnostic features of the impairment; and
Genetic testing showing mutations in the SMARCA2 gene.
Broad Thumb-Hallux Syndrome; RSTS; RTS; Rubinstein Syndrome; Rubinstein-Taybi Deletion Syndrome
Rubinstein-Taybi Syndrome (RTS) is a rare genetic disorder with onset during early childhood. RTS affects multiple organ systems and is characterized by marked mental disability and physical abnormalities.
RTS has profound adverse effects on intellectual development in children, and is often accompanied by memory, mood, and anxiety disorders. The average IQ for individuals with RTS is about 50.
The most common type of RTS is caused by a mutation of the CREBBP gene on chromosome 16p13. A generally milder form of RTS is associated with mutations on the EP300 gene and accounts for approximately 3% of cases of RTS. In about 30-40% of cases, the exact cause is unknown.
Occasionally, microdeletion of chromosome 16p13.3 leads to failure to thrive and death in infancy. This extremely severe form is sometimes designated Rubinstein-Taybi Deletion Syndrome.
testing: Clinical diagnosis of RTS relies heavily on the combined presence of intellectual disability, broad thumbs and halluces (big toes), and unique facial features.
Genetic tests may confirm mutation, but are susceptible to false negatives.
Physical findings: Children with RTS are characterized by:
Abnormally broad thumbs and big toes;
Downward slanted eyelids;
Congenital heart defects;
Chronic gastrointestinal issues;
Prominent “beaked” nose;
Missing or misshapen teeth;
High arched eyebrows;
Short stature; and
A high propensity for malignant and benign tumors.
Children with RTS may appear to develop within normal ranges during prenatal and early infantile stages, but height, weight, and head circumference percentiles will rapidly decline in the first months of life.
When RTS presents in early childhood, individuals can be expected to achieve normal life expectancy.
Rubinstein-Taybi Deletion Syndrome presents in early infancy and is the most severe form. Survival past early childhood has not been observed in this subtype.
There is no specific treatment for RTS. Treatment is symptom-specific, to include:
Surgery to repair the bones in the thumbs or toes can sometimes improve grasp or relieve discomfort;
Early intervention programs and special education to address developmental disabilities;
Referral to behavioral specialists and support groups for family members;
Medical treatment for heart defects, hearing loss, and eye abnormalities; and
Medications to reduce the symptoms of constipation and gastroesophageal reflux disease (GERD).
Clinical history and examination that describes the diagnostic features of the impairment; and
Laboratory tests confirming mutation or deletion on chromosome 16p13.3.
Adenocarcinoma Brain Metastasis; Brain Adenocarcinoma; Metastatic Adenocarcinoma of the Brain
Secondary Adenocarcinoma of the Brain is a brain lesion caused by the spread of cancerous cells from a malignant tumor in another organ. Adenocarcinomas usually metastasize to the brain from primary tumors in the lung, though metastases originating in the breast or gastrointestinal organs have been observed.
Adenocarcinoma is a type of cancer that begins in glandular (secretory) cells. Glandular cells are found in tissue that lines certain internal organs that make and release substances in the body.
The diagnosis is established by:
History and physical examination;
Brain imaging (CT or MRI scans);
Neurological testing; or
Physical findings: Common symptoms include:
Slurred or confused speech;
Numbness or weakness on one side of the body; and
The prognosis for individuals with secondary adenocarcinoma of the brain is generally poor. Long-term survival is very rare but has been known to occur with aggressive treatment and therapy.
Approach to treatment varies based on the site and aggressiveness of the primary tumor, but typically involves a combination of surgery, radiation, and chemotherapy.
Initial response to treatment tends to be favorable, but relapse within one year is common. Neurological impairment is a frequent side effect of treatment.
Suggested MER for Evaluation:
Clinical history and examination that describes the diagnostic features of the impairment;
Imaging reports such as CT scan or MRI scan;
Operative reports; and
13.16 A & B 2
13.23 A 2, B 3, C 2, & E 1 b