Diagnostic Criteria

Clinical and molecular diagnostic criteria for Pitt-Hopkins syndrome (PTHS) have been established [.]

Suggestive Findings

PTHS should be suspected in a proband with the following clinical and imaging findings and family history.

Clinical findings

• Developmental delay/ intellectual disability

• Delayed motor milestones, often associated with hypotonia

• Severely limited-to-absent speech, with regression in verbal abilities in some individuals

• Intellectual disability, typically moderate to severe

• Neurobehavioral/psychiatric manifestations

Source: GeneReviews — "Pitt-Hopkins Syndrome"

Differential Diagnosis

Disorders with features that overlap those of Pitt-Hopkins syndrome (PTHS) are listed in . Of these disorders, Rett syndrome and Angelman syndrome are the most common. Most of the disorders are distinguished from PTHS by the absence of typical PTHS facial features. Table 3. Disorders to Consider in the Differential Diagnosis of Pitt-Hopkins Syndrome

Management Guidelines

Clinical practice guidelines for management of individuals with Pitt-Hopkins syndrome (PTHS) have been published .

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with PTHS, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended.

Table 4.

Pitt-Hopkins Syndrome: Recommended Evaluations Following Initial Diagnosis

System/Concern | Evaluation | Comment

Neurologic eval

| By child neurologist | • To establish a neurologic baseline evaluate for other neurologic issues such as sleep dysfunction or seizures

• To incl brain MRI if not previously performed

• Consider EEG if seizures are a concern.

Developmental delay/ intellectual disability

| Developmental assessment | • To assess cognitive baseline determine the types of services educational strategies needed

• For infants young children: evaluate for early intervention.

• For school-age children: determine need for IEP or 504 plan.

Communication skills

| • By speech-language pathologist

• By therapist trained in accessory augmentative communication

| To assess need for nonverbal communication devices strategies

Behavioral abnormalities

| By child behavior specialist | Consider consultation w/child psychiatrist if behavioral issues are significant.

Breathing abnormalities

| By pediatric pulmonologist | • Assess for respiratory dysregulation, signs of chronic hypoxemia, and aspiration

Source: GeneReviews — "Pitt-Hopkins Syndrome"

Surveillance Guidelines

To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations summarized in are recommended. Table 6. Pitt-Hopkins Syndrome: Recommended Surveillance

Source: GeneReviews — "Pitt-Hopkins Syndrome"