Program Operations Manual System (POMS)
TN 54 (09-22)
DI 23022.133 CDKL5 Deficiency Disorder
COMPASSIONATE ALLOWANCES INFORMATION
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CDKL5 DEFICIENCY DISORDER
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ALTERNATE NAMES
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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
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DESCRIPTION
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CDKL5
Deficiency Disorderis 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
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DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING
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Diagnostic
testing:The diagnosis of CDKL5 Deficiency disorders is made by:
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History and physical examination;
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Genetic testing for CDKLF mutations;
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Electroencephalography (EEG) testing; and
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Magnetic resonance imaging (MRI).
Physical findings: The signs and symptoms of CDKL5 Deficiency disorders may include:
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Microcephaly (small head size);
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Hand wringing movements or mouthing of hands;
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Global developmental delays and intellectual delays;
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Impaired language/communication skills;
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Hypersensitivity to touch;
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Lack of eye contact or poor eye contact;
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Gastroesophageal reflux (GERD);
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Breathing irregularities, such as hyperventilation;
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Episodes of crying or laughing for no reason;
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Autistic-like tendencies, such as hand flapping;
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Cortical visual impairment (CVI);
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Eating/drinking challenges;
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ICD-9: 345.1
ICD-10: G40.4
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PROGRESSION
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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.
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TREATMENT
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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.
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SUGGESTED PROGRAMMATIC ASSESSMENT*
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Suggested MER for Evaluation:
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Clinical history and examination that describes the diagnostic features of the impairment;
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Genetic testing confirming mutations in the CDKL5 gene; and
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Suggested Listings for Evaluation:
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DETERMINATION
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LISTING
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REMARKS
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Meets
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11.02
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11.17
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12.02
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110.08
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111.02
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111.17
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112.02
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Equals
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* 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.
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