Program Operations Manual System (POMS)
TN 84 (09-25)
DI 23022.967 MECP2 Duplication Syndrome
COMPASSIONATE ALLOWANCES INFORMATION
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MECP2 DUPLICATION SYNDROME
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ALTERNATE NAMES
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Distal Duplication Xq; Intellectual Deficit X-linked Lubs Type; Lubs-Arena Syndrome;
Lubs X-linked Intellectual Deficit Syndrome; Telomeric Duplication Xq Trisomy Xq28
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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 MECP2 duplication syndrome is established by molecular
genetic testing documenting duplications of Xq28, the chromosomal location of MECP2.
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, gastroesophageal
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 MECP2 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*
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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:
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DETERMINATION
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LISTING
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REMARKS
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Meets
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11.07
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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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