Identification Number:
DI 23022 TN 26
Intended Audience:See Transmittal Sheet
Originating Office:ORDP ODP
Title:Processing Quick Disability Determination (QDD) and Compassionate Allowance (CAL) in the Disability Determination Services (DDS)
Type:POMS Transmittals
Program:Title II (RSI)
Link To Reference:
 

PROGRAM OPERATIONS MANUAL SYSTEM
Part DI – Disability Insurance
Chapter 230 – Special Issues
Subchapter 22 – Processing Quick Disability Determination (QDD) and Compassionate Allowance (CAL) in the Disability Determination Services (DDS)
Transmittal No. 26, 08/15/2019

Audience

PSC: CS, DEC, DTE, IES, RECONR;
OCO-OEIO: CR, ERE, FCR, FDE, RECONE;
OCO-ODO: DE, DEC, DS, RECONE;
ODD-DDS: ADJ, DHU;

Originating Component

ODP

Effective Date

Upon Receipt

Background

This transmittal updates the Compassionate Allowance (CAL) impairment summaries in the subchapterfor Processing Quick Disability Determination (QDD) and Compassionate Allowance (CAL) in the Disability Determination Services (DDS).

 

Summary of Changes

DI 23022.080 List of Compassionate Allowance (CAL) Conditions

  • Alternate names of CAL conditions;

  • Description providing background and information about CAL condition;

  • Guidance on the type of diagnostic testing and physical findings are necessary for diagnosis of the CAL condition;

  • Information regarding treatment and progression of the CAL condition;

  • Guidance on what listings can be used to evaluate the CAL condition; and

  • Update the list of CAL conditions to include four new CAL conditions.

  1. 1. 

    DI 23022.133 CDKL5 Deficiency Disorder

  2. 2. 

    DI 23022.483 Primary Peritoneal Cancer

  3. 3. 

    DI 23022.877 Pitt Hopkins Syndrome

  4. 4. 

    DI 23022.887 Richter Syndrome

DI 23022.133 CDKL5 Deficiency Disorder

New CAL condition. Impairment summary information added.

DI 23022.483 Primary Peritoneal Cancer

New CAL condition. Impairment summary information added.

DI 23022.877 Pitt Hopkins Syndrome

New CAL condition. Impairment summary information added.

DI 23022.887 Richter Syndrome

New CAL condition. Impairment summary information added.

DI 23022.080 List of Compassionate Allowance (CAL) Conditions

The following is a complete list of CAL conditions:

Section Title

Section Number

Acute Leukemia

DI 23022.085

Adrenal Cancer -- with distant metastases or inoperable, unresectable or recurrent

DI 23022.090

Adult Non-Hodgkin Lymphoma

DI 23022.921

Adult Onset Huntington Disease

DI 23022.923

Aicardi-Goutieres Syndrome

DI 23022.665

Alexander Disease (ALX) -- Neonatal and Infantile

DI 23022.095

Allan-Herndon-Dudley Syndrome

DI 23022.925

Alobar Holoprosencephaly

DI 23022.670

Alpers Disease

DI 23022.675

Alpha Mannosidosis -- Type II and III

DI 23022.680

Alstrom Syndrome

DI 23022.350

Alveolar Soft Part Sarcoma

DI 23022.927

Amegakaryocytic Thrombocytopenia

DI 23022.355

Amyotrophic Lateral Sclerosis (ALS)

DI 23022.100

Anaplastic Adrenal Cancer -- with distant metastases or inoperable, unresectable or recurrent

DI 23022.105

Angelman Syndrome

DI 23022.600

Aortic Atresia

DI 23022.540

Angiosarcoma

DI 23022.106

Aplastic Anemia

DI 23022.929

Astrocytoma -- GRADE III and IV

DI 23022.110

Ataxia Telangiectasia

DI 23022.360

Atypical Teratoid/Rhabdoid Tumor

DI 23022.111

Batten Disease

DI 23022.365

Beta Thalassemia Major

DI 23022.931

Bilateral Optic Atrophy -- Infantile

DI 23022.933

Bilateral Retinoblastoma

DI 23022.370

Bladder Cancer -- with distant metastases or inoperable or unresectable

DI 23022.115

Breast Cancer -- with distant metastases or inoperable or unresectable

DI 23022.125

CACH -- Vanishing White Matter Disease -- Infantile and Childhood Onset Forms

DI 23022.127

Canavan Disease (CD)

DI 23022.130

Carcinoma of Unknown Primary Site

DI 23022.685

Cardiac Amyloidosis- AL Type

DI 23022.580

Caudal Regression Syndrome- Types III and IV

DI 23022.935

CDKL5 Deficiency Disorder DI 23022.133

Cerebro Oculo Facio Skeletal (COFS) Syndrome

DI 23022.135

Cerebrotendinous Xanthomatosis

DI 23022.690

Child Neuroblastoma- - with distant metastasis or recurrent

DI 23022.695

Child Non-Hodgkin Lymphoma- - recurrent

DI 23022.700

Child T-Cell Lymphoblastic Lymphoma

DI 23022.937

Chondrosarcoma- - with multimodal therapy

DI 23022.705

Chronic Idiopathic Intestinal Pseudo Obstruction

DI 23022.136

Chronic Myelogenous Leukemia -- Blast Phase

DI 23022.140

Coffin-Lowry Syndrome

DI 23022.141

Congenital Lymphedema

DI 23022.939

Congenital Myotonic Dystrophy

DI 23022.143

Cornelia de Lange Syndrome- - Classic Form

DI 23022.710

Corticobasal Degeneration

DI 23022.605

Creutzfeldt-Jakob Disease (CJD) -- Adult

DI 23022.145

Cri du Chat Syndrome

DI 23022.375

Degos Disease, Systemic

DI 23022.380

DeSanctis Cacchione Syndrome

DI 23022.941

Dravet Syndrome

DI 23022.943

Early-Onset Alzheimer’s Disease

DI 23022.385

Edwards Syndrome (Trisomy 18)

DI 23022.390

Eisenmenger Syndrome

DI 23022.545

Endometrial Stromal Sarcoma

DI 23022.945

Endomyocardial Fibrosis

DI 23022.550

Ependymoblastoma (Child Brain Tumor)

Erdheim Chester Disease

DI 23022.150

DI 23022.947

Esophageal Cancer

DI 23022.155

Esthesioneuroblastoma

DI 23022.156

Ewing Sarcoma

DI 23022.715

Farber’s Disease (FD) -- Infantile

DI 23022.160

Fatal Familial Insomnia

DI 23022.949

Fibrodysplasia Ossificans Progressiva

DI 23022.395

Fibrolamellar Cancer

DI 23022.163

Follicular Dendritic Cell Sarcoma -- metastatic or recurrent

DI 23022.720

Friedreichs Ataxia (FRDA)

DI 23022.165

Frontotemporal Dementia (FTD) Picks Disease -- Type A – Adult

DI 23022.170

Fryns Syndrome

DI 23022.951

Fucosidosis – Type I

DI 23022.725

Fukuyama Congenital Muscular Dystrophy

DI 23022.400

Fulminant Giant Cell Myocarditis

DI 23022.953

Galactosialidosis – Early and Late Infantile Types

DI 23022.730

Gallbladder Cancer

DI 23022.175

Gaucher Disease (GD) --Type 2

DI 23022.180

Glioblastoma Multiforme (Brain Tumor)

DI 23022.185

Glioma Grade III and IV

DI 23022.735

Giant Axonal Neuropathy

DI 23022.181

Gluteric Acidemia – Type II

DI 23022.470

Head and Neck Cancers -- with distant metastasis or inoperable or uresectable

DI 23022.190

Heart Transplant Graft Failure

DI 23022.555

Heart Transplant Wait List – 1A/1B

DI 23022.560

Hemophagocytic Lymphohistiocytosis

DI 23022.405

Hepatoblastoma

DI 23022.745

Hepatopulmonary Syndrome

DI 23022.955

Hepatorenal Syndrome

DI 23022.957

Histiocytosis Syndromes

DI 23022.750

Hoyeaal-Hreidarsson Syndrome

DI 23022.191

Hutchinson-Gilford Progeria Syndrome

DI 23022.755

Hydranencephaly

DI 23022.760

Hypocomplementemic Urticarial Vasculitis Syndrome

DI 23022.765

Hypophosphatasia- Perinatal (Lethal) and Infantile Onset Types

DI 23022.770

Hypoplastic Left Heart Syndrome

DI 23022.565

I Cell Disease

DI 23022.775

Idiopathic Pulmonary Fibrosis

DI 23022.420

Infantile Free Sialic Acid Storage Disease

DI 23022.780

Infantile Neuroaxonal Dystrophy (INAD)

DI 23022.195

Infantile Neuronal Ceroid-Lipofuscinoses

DI 23022.425

Inflammatory Breast Cancer (IBC)

DI 23022.200

Intracranial Hemangiopericytoma

DI 23022.201

Jervell and Lange-Nielsen Syndrome

DI 23022.959

Joubert Syndrome

DI 23022.202

Junctional Epidermolysis Bullosa Lethal Type

DI 23022.430

Juvenile Onset Huntington Disease

DI 23022.785

Kidney Cancer -- inoperable or unresectable

DI 23022.205

Kleefstra Syndrome

DI 23022.207

Krabbe Disease (KD) --Infantile

DI 23022.210

Kufs Disease Type A and B

DI 23022.790

Large Intestine Cancer -- with distant metastasis or inoperable, unresectable or recurrent

DI 23022.215

Late Infantile Neuronal Ceroid-Lipofuscinoses

DI 23022.435

Leigh’s Disease

DI 23022.440

Leiomyosarcoma

DI 23022.961

Leptomeningeal Carcinomatosis

DI 23022.216

Lesch-Nyhan Syndrome (LNS)

DI 23022.220

Lewy Body Dementia

DI 23022.610

Liposarcoma – metastatic or recurrent

DI 23022.221

Lissencephaly

DI 23022.795

Liver Cancer

DI 23022.225

Lowe Syndrome

DI 23022.615

Lymphomatoid Granulomatosis - Grade III

DI 23022.800

Malignant Brain Stem Gliomas - Childhood

DI 23022.805

Malignant Ectomesenchymoma

DI 23022.226

Malignant Gastrointestinal Stromal Tumor

DI 23022.963

Malignant Germ Cell Tumor

DI 23022.965

Malignant Multiple Sclerosis

DI 23022.620

Malignant Renal Rhabdoid Tumor

DI 23022.227

Mantle Cell Lymphoma (MCL)

DI 23022.230

Maple Syrup Urine Disease

DI 23022.445

Marshall-Smith Syndrome

DI 23022.231

Mastocytosis - Type IV

DI 23022.815

MECP 2 Duplication Syndrome

DI 23022.967

Medulloblastoma - with metastasis

DI 23022.820

Megacystis Microcolon Intestinal Hypoperistalsis Syndrome

DI 23022.233

Megalencephaly-Capillary Malformation Syndrome

DI 23022.234

Menkes Disease - Classic or Infantile Onset Form

DI 23022.969

Merkel Cell Carcinoma - with metastasis

DI 23022.825

Merosin Deficient Congenital Muscular Dystrophy

DI 23022.450

Metachromatic Leukodystrophy - Late Infantile

DI 23022.235

Mitral Valve Atresia

DI 23022.575

Mixed Dementia

DI 23022.455

MPS I, formerly known as Hurler Syndrome

DI 23022.415

MPS II, formerly known as Hunter Syndrome

DI 23022.410

MPS III, formerly known as Sanfilippo Syndrome

DI 23022.495

Mucosal Melanoma

DI 23022.460

Multicentric Castleman Disease

DI 23022.625

Multiple System Atrophy

DI 23022.630

Myocolonic Epilepsy and Ragged Red Fibers Syndrome

DI 23022.830

Neonatal Adrenoleukodystrophy

DI 23022.465

(Neonatal) Glutaric Acidemia

DI 23022.470

Nephrogenic Systemic Fibrosis

DI 23022.835

NFU-1 Mitochondrial Disease

DI 23022.971

Niemann-Pick Disease (NPD) -- type A

DI 23022.240

Niemann-Pick Disease Type C

DI 23022.475

Nonketotic Hyperglycinemia

DI 23022.973

Non-Small Cell Lung Cancer -- with metastases to or beyond the hilar nodes or inoperable, unresectable or recurrent

DI 23022.245

Obliterative Bronchiolitis

DI 23022.840

Ohtahara Syndrome

DI 23022.845

Oligodendroglioma Brain Tumor- Grade III

DI 23022.246

Ornithine Transcarbamylase (OTC) Deficiency

DI 23022.250

Orthochromatic Leukodystrophy with Pigmented Glia

DI 23022.850

Osteogenesis Imperfecta (OI) -- Type II

DI 23022.255

Osteosarcoma, formerly known as Bone Cancer -- with distant metastases or inoperable or unresectable

DI 23022.120

Ovarian Cancer -- with distant metastases or inoperable or unresectable

DI 23022.260

Pallister-Killian Syndrome

DI 23022.261

Pancreatic Cancer

DI 23022.265

Paraneoplastic Pemphigus

DI 23022.635

Patau Syndrome (Trisomy 13)

DI 23022.480

Pearson Syndrome

DI 23022.855

Pelizaeus-Merzbacher Disease- - Classic Form

DI 23022.860

Pelizaeus-Merzbacher Disease- - Connatal Form

DI 23022.865

Peripheral Nerve Cancer- - metastatic or recurrent

DI 23022.870

Peritoneal Mesothelioma

DI 23022.270

Peritoneal Mucinous Carcinomatosis

DI 23022.975

Perry Syndrome

DI 23022.875

Phelan-McDermid Syndrome

DI 23022.977

Pitt Hopkins Syndrome DI 23022.877

Pleural Mesothelioma

DI 23022.275

Pompe Disease -- Infantile

DI 23022.280

Primary Central Nervous System Lymphoma

DI 23022.640

Primary Effusion Lymphoma

DI 23022.645

Primary Peritoneal Cancer DI 23022.483

Primary Progressive Aphasia

DI 23022.485

Progressive Bulbar Palsy

DI 23022.281

Progressive Multifocal Leukoencephalopathy

DI 23022.490

Progressive Supranuclear Palsy

DI 23022.650

Prostate Cancer- Hormone Refractory Disease— or with visceral metastases

DI 23022.282

Pulmonary Atresia

DI 23022.585

Pulmonary Kaposi Sarcoma

DI 23022.655

Retinopathy of Prematurity- Stage V

DI 23022.979

Rett (RTT) Syndrome

DI 23022.285

Revesez Syndrome

DI 23022.286

Rhabdomyosarcoma

DI 23022.880

Rhizomelic Chondrodysplasia Punctata

DI 23022.885

Richter Syndrome DI 23022.887

Roberts Syndrome

DI 23022.981

Salivary Tumors

DI 23022.290

Sandhoff Disease

DI 23022.295

Schindler Disease - - Type I

DI 23022.890

Seckel Syndrome

DI 23022.296

Severe Combined Immunodeficiency- Childhood

DI 23022.983

Single Ventricle

DI 23022.590

Sinonasal Cancer

DI 23022.985

Sjogren-Larsson Syndrome

DI 23022.297

Skin Malignant Melanoma—with metastases

DI 23022.810

Small-Cell Cancer of the Large Intestine

DI 23022.300

Small-Cell Cancer of the Ovary

DI 23022.305

Small-Cell Cancer of the Prostate

DI 23022.310

Small-Cell Cancer of the Thymus

DI 23022.311

Small-Cell Cancer of the Uterus

DI 23022.315

Small-Cell Lung Cancer

DI 23022.320

Small Intestine Cancer -- with distant metastases or inoperable, unresectable or recurrent

DI 23022.325

Smith Lemli Opitz Syndrome

DI 23022.895

Soft Tissue Sarcoma – with distant metastases or recurrent

DI 23022.326

Spinal Muscular Atrophy (SMA) -- Types 0 and 1

DI 23022.330

Spinal Nerve Root Cancer- - metastatic or recurrent

DI 23022.900

Spinocerebellar Ataxia

DI 23022.500

Stiff Person Syndrome

DI 23022.905

Stomach Cancer -- with distant metastases or inoperable, unresectable or recurrent

DI 23022.335

Subacute Sclerosing Panencephalitis

DI 23022.505

Superficial Siderosis of the Central Nervous System

DI 23022.337

Tabes Dorsalis

DI 23022.910

Tay Sachs Disease

DI 23022.510

Tetrasomy 18p

DI 23022.343

Thanatophoric Dysplasia, Type 1

DI 23022.515

The ALS/Parkinsonism Dementia Complex

DI 23022.660

Thyroid Cancer

DI 23022.340

Transplant Coronary Artery Vasculopathy

DI 23022.987

Tricuspid Atresia

DI 23022.595

Ullrich Congenital Muscular Dystrophy

DI 23022.520

Ureter Cancer -- with distant metastases or inoperable, unresectable or recurrent

DI 23022.345

Usher Syndrome- Type I

DI 23022.989

Ventricular Assist Device Recipient

DI 23022.570

Walker Warburg Syndrome

DI 23022.525

Wolf-Hirschhorn Syndrome

DI 23022.915

Wolman Disease

DI 23022.530

Xeroderma Pigmentosum

DI 23022.920

X-Linked Lymphoproliferative Disease

DI 23022.346

X-Linked Myotubular Myopathy

DI 23022.347

Zellweger Syndrome

DI 23022.535

 

DI 23022.133 CDKL5 Deficiency Disorder

COMPASSIONATE ALLOWANCE INFORMATION

CDKL5 DEFICIENCY DISORDER

ALTERNATE NAMES

 

CDKL V Deficiency Disorder; CDKL Five Deficiency Disorder; CDKL5 Encephalopathy; CDKL V Encephalopathy; CDKL Five Encephalopathy; CDKL5-Related Epilepsy; CDKL V Related Epilepsy; CDKL5-Related Epileptic Encephalopathy; CDKL Five Related Epileptic Encephalopathy; Early Infantile Epileptic Encephalopathy 2; Early Infantile Epileptic Encephalopathy Two; Early Infantile Epileptic Encephalopathy II; Early Infantile Epilepsy Encephalopathy 2; Early Infantile Epilepsy Encephalopathy Two; Early Infantile Epilepsy Encephalopathy II

DESCRIPTION CDKL5 Deficiency Disorder is a rare X-linked genetic disorder caused by mutations in the CDKL5 gene. CDKL5 gene mutations can cause a broad range of clinical symptoms and severity. Most people with CDKL5 deficiency disorder have early-onset, intractable epilepsy and neurodevelopmental delay affecting cognitive, motor, speech, and visual functioning. CDKL5 is one of the most common forms of genetic epilepsy.
DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM CODING Diagnostic testing: The diagnosis of CDKL5 Deficiency disorders is made by:
  • History and physical examination;

  • Genetic testing for CDKLF mutations;

  • Electroencephalography (EEG) testing; and

  • Magnetic resonance imaging (MRI).

Physical findings: The signs and symptoms of CDKL5 Deficiency disorders may include:

  • Seizures;

  • Microcephaly (small head size);

  • Hand wringing movements or mouthing of hands;

  • Global developmental delays and intellectual delays;

  • Impaired language/communication skills;

  • Hypersensitivity to touch;

  • Lack of eye contact or poor eye contact;

  • Gastroesophageal reflux (GERD);

  • Constipation;

  • Small, cold feet;

  • Breathing irregularities, such as hyperventilation;

  • Grinding of teeth;

  • Episodes of crying or laughing for no reason;

  • Low/poor muscle tone;

  • Limited hand skills;

  • Autistic-like tendencies, such as hand flapping;

  • Scoliosis;

  • Cortical visual impairment (CVI);

  • Apraxia;

  • Eating/drinking challenges;

  • Interruptive sleep;

  • Sideways glance; and

  • Crossing of the legs.

ICD-9: 345.1

PROGRESSION

Seizures in CDKL5 deficiency disorder usually begin within the first 3 months of life, and they can appear as early as the first week after birth. The types of seizures change with age, and they usually follow a predictable pattern. Seizures occur daily in most affected individuals, and they are resistant to treatment.

About 90% of people diagnosed with CDKL5 deficiency disorder are female. Affected males tend to have more severe developmental disabilities, including profound intellectual disability and almost no development of gross and fine motor skills. The life expectancy varies depending on the severity of health problems.

TREATMENT Currently there is no cure for CDKL5 deficiency disorder. Management is mainly focused on optimizing the individual’s abilities and providing psychosocial support for the family. Anticonvulsant drugs, ketogenic diets, and vagus nerve stimulation are used to treat seizures. Steroids and adrenocorticotrophic (ACTH) have been used for the treatment of infantile spasms.
SUGGESTED PROGRAMMATIC ASSESSMENT *
Suggested MER for Evaluation:
  • Clinical history and examination that describes the diagnostic features of the impairment;

  • Genetic testing confirming mutations in the CDKL5 gene; and

  • MRI of the brain.

Suggested Listings for Evaluation:
DETERMINATION

LISTING

REMARKS
Meets 11.02

11.17

12.02

110.08

111.02

111.17

112.02

Equals
* 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.

DI 23022.483 Primary Peritoneal Cancer

COMPASSIONATE ALLOWANCE INFORMATION

PRIMARY PERITONEAL CANCER

ALTERNATE NAMES

Primary Peritoneal Carcinoma; Primary Peritoneal Neoplasm; Primary Peritoneal Tumor; Primary Peritoneal Sarcoma; Serous Surface Papillary Carcinoma; Serous Surface Papillary Cancer; Serous Surface Papillary Sarcoma; Serous Surface Papillary Tumor; Serous Surface Papillary Neoplasm; Extra Ovarian Serous Carcinoma; Extra Ovarian Serous Cancer; Extra Ovarian Serous Neoplasm; Extra Ovarian Serous Tumor; Extra Ovarian Serous Sarcoma; Primary Serous Papillary Carcinoma; Primary Serous Papillary Cancer; Primary Serous Papillary Sarcoma; Primary Serous Papillary Tumor; Primary Serous Papillary Neoplasm

DESCRIPTION

Primary peritoneal cancer (PPC) is cancer that originates in the peritoneum, which is a moist sheet of tissue that lines the abdominal cavity and the surface of the abdominal organs. The peritoneum protects the organs and allows them to move smoothly within the abdomen. The cells of the peritoneum develop from the same type of cells, which form the ovaries, so PPC shares characteristics with ovarian cancer, and though rare PPC can occur in men. The exact cause of PPC is not known, but may be associated with the gene BRCA1/2 (also seen in ovarian cancer).

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM CODING

Diagnostic testing: The diagnosis of primary peritoneal cancer is made by:

  • History and physical exam;

  • Pelvic exam;

  • CA 125 Assay;

  • Ultrasound;

  • Computerized Tomography (CT/CAT) scan;

  • Positron Emission Tomography (PET) scan;

  • Magnetic Resonance Imaging (MRI);

  • Chest X-ray; and

  • Biopsy.

Physical findings: The signs and symptoms of primary peritoneal cancer may include:

  • Pain, swelling, or a feeling of pressure in the abdomen or pelvis;

  • Vaginal bleeding that is heavy or irregular, especially after menopause;

  • Vaginal discharge that is clear, white, or colored with blood;

  • Lump in the pelvic area; and

  • Gastrointestinal problems such as gas, bloating, or constipation

ICD-9: 158.8

PROGRESSION

The prognosis for individuals with primary peritoneal cancer is often poor. Median life expectancy is 1-2 years, with a range of 4 months to >5 years, the 5-year survival rate is about 26%.

TREATMENT

The presentation of PPC may be in the advanced stages at initial diagnosis, making curative treatment very difficult. Treatment may include surgery, radiation, and/or chemotherapy. The treatment of primary peritoneal cancer depends on the stage/grade of cancer; whether the patient has extra fluid in the abdomen that causes swelling; whether the cancer is unresectable, metastatic, or recurrent; changes in the BRACA1 or BRACA2 genes; and the patient’s age and general health.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:
  • Clinical history and examination that describes the diagnostic features of the impairment;

  • Pathology/biopsy report of the cancer; and

  • Imaging reports such as CT scan, MRI scan; PET scan, and Ultrasound

Suggested Listings for Evaluation:
DETERMINATION

LISTING

REMARKS

Meets

 

 

Equals

13.23 E

Primary peritoneal cancer, by definition equals 13.23E 1 a – extension to peritoneal surfaces.

* 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.

DI 23022.877 Pitt Hopkins Syndrome

COMPASSIONATE ALLOWANCE INFORMATION

PITT HOPKINS SYNDROME

ALTERNATE NAMES

Pitt Hopkin Syndrome; Pitt Hopkins Disease; and Pitt Hopkin Disease

DESCRIPTION

Pitt-Hopkins syndrome is a rare genetic disorder caused by mutations in the TCF4 gene. Intellectual disability and developmental delay, breathing problems, recurrent seizures (epilepsy), and distinctive facial features characterize the disorder. People with Pitt-Hopkins syndrome typically do not develop speech; some may learn to say a few words. Many affected individuals exhibit features of autistic spectrum disorders, which are characterized by impaired communication and socialization skills.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM CODING

Diagnostic testing: The diagnosis of Pitt Hopkins syndrome is made by:

  • Physical examination and history;

  • Electroencephalography (EEG);

  • Magnetic Resonance Imaging (MRI); and

  • Genetic testing showing TCF4 gene mutations.

Physical findings: The signs and symptoms of Pitt Hopkins syndrome may include:

  • Low muscle tone (hypotonia);

  • Developmental delays;

  • Small head size (microcephaly);

  • Behavioral characteristics such as: feeding difficulties, aggressive outbursts, anxiety, hand biting, head banging, stereotypical hand or head movements;

  • Distinctive facial features;

  • Breathing problems such as episodes of rapid breathing (hyperventilation), followed by episodes of struggling to breathe or not breathing;

  • Seizures;

  • Sleep disturbances;

  • Eye or vision problems such as nearsightedness (myopia); eye misalignment (strabismus); and astigmatism;

  • Gastrointestinal problems; and

  • Skeletal features such as flat feet, clubfoot, small hands and feet; broad fingertips or tapered fingers; bent or curved fingers, and overlapping toes.

ICD-9: 758.89

PROGRESSION

Pitt Hopkins syndrome affects both males and females and can affect individuals of any ethnic or racial background. People with Pitt Hopkins syndrome survive into adulthood, but continue to have severe cognitive and communication impairments. Pitt Hopkins syndrome is thought to be a very rare condition. Approximately 500 affected individuals have been reported worldwide.

TREATMENT

There is currently no cure for this disorder. Management of Pitt Hopkins syndrome includes the treatment of seizures; physical and occupational therapies to improve adaptive functioning; and speech therapy with focus on non-verbal methods of communication. School age children require individualized and flexible instructional curricula. Dietary/nutritional consultation is used to better manage constipation and other gastrointestinal issues.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:
  • Clinical history, examination, and laboratory testing that describe the diagnostic features of the impairment; and

  • Developmental assessment or psychological testing to address allegations of mental impairment may be warranted.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets 11.02

 

11.17

12.05

12.14

111.02

112.05

112.14

Equals
* 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.

DI 23022.887 Richter Syndrome

COMPASSIONATE ALLOWANCE INFORMATION
RICHTER SYNDROME

ALTERNATE NAMES

Richter Disease; Richter Transformation; Richter’s syndrome; Richter’s Disease; Richter’s Transformation

DESCRIPTION

Richter syndrome (RS) is a rare type of non-Hodgkin lymphoma. This condition occurs when chronic lymphocytic leukemia (CLL) transforms into a fast growing aggressive type of lymphoma, most commonly diffuse large B-cell lymphoma. (DLBCL). The risk of developing RS depends on the genetic mutations in the CLL cell; clinical characteristics; biologic and genetic features of the CLL B-cell clone; and therapy for progressive CLL.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM CODING

Diagnostic testing: Diagnostic testing for individuals with Richter syndrome includes:

  • Blood chemistry studies;

  • Computerized Tomography (CT/CAT) scan;

  • Positron Emission Tomography (PET) scan;

  • Magnetic Resonance Imaging (MRI);

  • Bone marrow aspiration; and

  • Biopsy.

Physical findings: The signs and symptoms of Richter syndrome may include:

  • Increased size of lymph nodes (lymphadenopathy);

  • Painless swelling in the neck, axilla, abdomen, spleen (splenomegaly) or groin; and

  • Unexplained weight loss, fevers and night sweats (commonly referred to as B-symptoms) .

Other signs and symptoms may include:

  • Increased fatigue;

  • Shortness of breath;

  • Dizziness;

  • Palpitations;

  • Low Platelets with characteristic bruising or bleeding;

  • Increase in serum lactate dehydrogenase (LDH); and

  • Elevated serum calcium (hypercalcemia).

ICD-9: 200.7

PROGRESSION

RS indicates the transformation of CLL into an aggressive lymphoma. The median age of occurrence is between 61 years and 70 years. People with CLL are at increased risk of developing a second malignant neoplasm such as cancers of the lung, brain, eye, and malignant melanoma. The median time to occurrence of CLL to RS is 1.8 to 5 years after diagnosis. Approximately 2% to 10% of people who have chronic lymphocytic leukemia develop Richter transformation. Prognosis is very poor with survival generally less than 1 year.

TREATMENT

Richter syndrome lymphoma is treated with the same chemotherapy drugs used for all other aggressive lymphomas, such as chemotherapy, radiation therapy, or antibody or biological therapy. RS is not very responsive to any of the available treatments.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:
  • Clinical history and examination that describes the diagnostic features of the impairment;

  • CT, MRI, or PET scan reports;

  • Pathology/Biopsy reports of the cancer;

  • Surgical procedures; and

  • Up-to-date progress reports.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

 

 

Equals

13.05 D

 

* 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.

DI 23022 TN 26 - Processing Quick Disability Determination (QDD) and Compassionate Allowance (CAL) in the Disability Determination Services (DDS) - 8/15/2019