Pitt-Hopkins syndrome (PTHS) is a genetic disorder that affects development, speech and intellect. Children with PTHS need life-long specialized care for concerns related to breathing, digestion, behavior development and other medical issues. At MassGeneral Hospital for Children (MGHfC), your child will receive care from a multidisciplinary team of specialists throughout the hospital. In this handout, you will learn recommendations for managing your child’s health conditions related to PTHS.

Gastroenterology:

Medical concern

  • Chronic (long-term) constipation
  • Drooling
  • Gastroesophageal reflux (GERD, also called acid reflux or heartburn

Treatment

Constipation
  • Daily monitoring of bowel movements and food intake
  • Behavioral changes to ease constipation
  • In severe cases, referral to a neurogastroenterologist (a doctor who studies how the nerves and muscles in the stomach and intestines work)
Drooling
  • Speech and language therapy
  • In severe cases, Botox® injections into the salivary glands (glands that produce saliva)
  • Salivary duct ligation (surgery to remove the salivary glands)
GERD
  • Anti-reflux medications

Respiratory:

Medical concern

  • Apnea (pauses in breathing)
  • Hyperventilation (rapid breathing)

Treatment

  • In most cases, treatment is not needed unless it affects your child’s sleep.
  • If your child’s breathing is interrupted at night, polysomnography (sleep study) can help the care team figure out next steps for treatment.

Sensory:

Medical concern

  • Vision or hearing challenges
  • Pain

Treatment

  • Regular vision and hearing checks
  • Learn how to recognize how your child expresses pain

Neurology:

Medical concern

  • Seizures (which can be difficult to tell apart from apnea in some cases)

Treatment

  • Electroencephalography (EEG, a test that checks electrical activity in the brain)
  • Imaging of the brain
  • Anti-seizure medication

Orthopedics:

Medical concern

  • Flat feet
  • Valgus positioning (when one or both knees bend inward toward one another)
  • Scoliosis

Treatment

Flat feet

  • Custom footwear or shoe inserts
  • Custom shoes or leg braces

Valgus positioning

  • If your child has a lot of trouble walking, surgery can help correct issues with walking or balance

Scoliosis

  • Regular spine checks

Maintenance care: Pediatrics:

Medical concern

  • Dental health
  • Regular follow-up care
  • Vaccinations
  • Heart and kidney health

Treatment

  • Regular dental and primary care visits
  • Regular vaccinations, according to national guidelines.
  • If there are concerns with your child’s heart or kidneys, an ultrasound can help the care team figure out next steps for treatment

Maintenance care: Adults:

Medical concern

  • Behavior changes in individuals with PTHS may be caused by pain due to unrecognized physical causes and should lead to careful physical exams for constipation, infections and dental problems.
  • Speech delay or absence of speech
  • Cryptorchidism (in males, when one or both testes do not fall from the abdomen, or belly area, into the scrotum)

Treatment

Behavior changes

  • Behavior changes might be caused by pain, infection, dental issues or other medical concerns. The care team will check your child’s symptoms to figure out what might be causing them.

Speech delay or absence of speech

  • Speech and language therapy
  • Communication assistance devices, such as an iPad® or picture chart

Cryptorchidism

  • Surgery to move the testes into the correct position

Care/Transition planning:

Medical concern

  • Transition from pediatric to adult care
  • Sexual development and education

Treatment

  • When your child reaches puberty, ask the care team how to ensure a smooth transition from pediatric to adult care.
  • Education about physical and emotional changes that happen during puberty. Education about sex should be appropriate to your child’s emotional and intellectual abilities.

Cognition and Behavior:

Medical concern

  • Anxiety
  • Agitation or aggressive behavior
  • Autism spectrum disorder (ASD)
  • Sensory processing disorders (a disorder in which the brain has trouble receiving and responding to information that comes in through the senses)
  • Learning disabilities

Treatment

Anxiety

  • Medications, such as antidepressants or anti-anxiety medications

Agitation or aggressive behavior

  • Assessments by the care team on your child’s behaviors
  • Learning skills to improve daily life and change anxious or harmful behaviors

Autism spectrum disorder

  • Evaluation for a diagnosis of ASD
  • Developmental and educational support to help your child reach their full cognitive and educational potential

Sensory processing disorders and learning disabilities

  • Assessments by the care team to develop methods to prevent understimulation or overstimulation