Program Operations Manual System (POMS)
TN 30 (08-20)
DI 23022.967 MECP2 Duplication Syndrome
COMPASSIONATE ALLOWANCES INFORMATION
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MECP2
DUPLICATION SYNDROME |
ALTERNATE
NAMES |
Trisomy Xq28; Distal Duplication Xq; Telomeric Duplication Xq; Lubs-Arena Syndrome;
Lubs X-linked Intellectual Deficit Syndrome; Intellectual Deficit X-linked Lubs Type
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DESCRIPTION
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MECP2 Duplication Syndrome is a genetic disorder in which there is an extra copy of the MECP2 gene on the X chromosome
in each cell, meaning only males are affected. This condition causes severe neurodevelopmental
disorders.
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DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND
ICD-9-CM/ICD-10-CM CODING
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Diagnostic testing: The laboratory diagnosis of MECP 2 duplication syndrome is established by molecular
genetic testing documenting duplications of Xq28, the chromosomal location of MECP
2.
Physical findings:
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Difficulties with swallowing and feeding;
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Abnormal muscle tone (ranging from hypotonia to spasticity);
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Recurrent respiratory infections; and
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ICD-9: 758.81
ICD-10: Q98.9
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PROGRESSION
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Children with this disorder appear normal at birth. Shortly after birth, infants show
signs of difficulties with feeding and swallowing resulting from hypotonia, gastro-esophageal
reflux, failure to thrive, developmental delay, seizures, and recurrent respiratory
infections. Respiratory infections and neurological deterioration are a major cause
of death, with mortality occurring in half of affected individuals by age 25.
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TREATMENT
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Medical management of children with MECP 2 duplication syndrome is supportive and
planned on a case-by-case basis, depending on the individual circumstances. For example,
physical and occupational therapies may be used to help relieve spasticity, maintain
or increase muscle tone. A speech language pathologist may evaluate communication
and swallowing problems. Assistive devices such as wheelchairs, helmet, and communication
boards may be used for safety, and to improve quality of life. Anticonvulsive medications
may be used to treat seizures. School age children may benefit from individualized
educational planning.
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SUGGESTED
PROGRAMMATIC ASSESSMENT* |
Suggested MER for Evaluation:
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•
Clinical history and physical examination that describes diagnostic features of the
impairment and laboratory findings are needed to confirm the diagnosis; and
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•
Developmental assessment or psychological testing to address allegations of mental
impairments may be warranted.
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Suggested Listings for
Evaluation: |
DETERMINATION
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LISTING
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REMARKS
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Meets
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11.07
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11.17
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12.05
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111.07
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111.17
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112.05
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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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