Program Operations Manual System (POMS)
TN 33 (08-20)
COMPASSIONATE ALLOWANCES INFORMATION
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PITT
HOPKINS SYNDROME |
ALTERNATE NAMES
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Pitt Hopkin Syndrome; Pitt Hopkins Disease; and Pitt Hopkin Disease
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DESCRIPTION
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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.
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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 Pitt Hopkins syndrome is made by:
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Physical examination and history;
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Electroencephalography (EEG);
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Magnetic Resonance Imaging (MRI); and
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Genetic testing showing TCF4 gene mutations.
Physical findings: The signs and symptoms of Pitt Hopkins syndrome may include:
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Low muscle tone (hypotonia);
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Small head size (microcephaly);
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Behavioral characteristics such as: feeding difficulties, aggressive outbursts, anxiety,
hand biting, head banging, stereotypical hand or head movements;
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Distinctive facial features;
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Breathing problems such as episodes of rapid breathing (hyperventilation), followed
by episodes of struggling to breathe or not breathing;
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Eye or vision problems such as nearsightedness (myopia); eye misalignment (strabismus);
and astigmatism;
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Gastrointestinal problems; and
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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
ICD-10: Q99.8
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PROGRESSION
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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.
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TREATMENT
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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.
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SUGGESTED PROGRAMMATIC ASSESSMENT*
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Suggested MER for
Evaluation:
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Clinical history, examination, and laboratory testing that describe the diagnostic
features of the impairment; and
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Developmental assessment or psychological testing to address allegations of mental
impairment 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 |
11.02 |
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11.17
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12.05
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12.14
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111.02
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112.05
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112.14
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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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