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

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: 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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  Developmental delays;

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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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  Seizures;

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  Sleep disturbances;

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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

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.

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*

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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.

REMARKS