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Pitt-Hopkins Syndrome: Treatment Options at NAPA

Sep 18th, 2023 | by Eabha Barry

Eabha Barry

September 18th, 2023

What is Pitt-Hopkins Syndrome?

Pitt-Hopkins syndrome is a rare genetic neurological disorder. It is caused by mutations in the TCF4 gene. It is estimated to occur in 10,000 to 30,00 newborns. In this blog, we share Pitt-Hopkins syndrome treatment options delivered through multidisciplinary paediatric therapy at NAPA Centre clinics.

What is the Cause of Pitt-Hopkins Syndrome?

Pitt-Hopkins syndrome is a rare genetic disorder caused by a specific mutation or deletion of the TCF4 gene on chromosome 18. This mutation affects the development of the nervous system, leading to intellectual disability, developmental delays, and other symptoms. The syndrome is not generally inherited and usually occurs sporadically. The exact cause of the gene mutation is not always known, it is believed to be a random occurrence in most cases.

What Are Some Characteristics in Children With Pitt-Hopkins Syndrome?

The presentation and severity of symptoms in Pitt-Hopkins syndrome can fluctuate among individuals, with some individuals showing more severe symptoms and challenges than others. The symptoms may include:

  • Intellectual disability
  • Developmental delays
  • Absence of speech or minimal speech
  • Breathing problems, including episodes of rapid breathing and hyperventilation
  • Low muscle tone (hypotonia)
  • Behavioural challenges, such as aggression, anxiety, and self-injurious behaviours
  • Distinct facial features, including a wide mouth and a prominent lower lip.

What Are Some Pitt-Hopkins Syndrome Treatment Options?

There is currently no cure; Pitt-Hopkins syndrome treatment focuses on managing symptoms and providing supportive care. This may include speech therapy, occupational therapy, physiotherapy, and medication to control seizures and breathing difficulties. It is important for individuals with Pitt-Hopkins syndrome to receive comprehensive care from a multidisciplinary team of healthcare professionals to address their specific needs.

About the Author

Eabha (pronounced Ava) is an Occupational Therapist at NAPA Centre Syndey. Known for her enthusiasm, Eabha is passionate about making therapy sessions enjoyable for children. She believes that incorporating fun into the sessions not only helps engage the children but also enhances their progress. In addition to her professional pursuits, Eabha enjoys exploring and immersing herself in the vibrant city of Sydney. Eabha can be found unwinding by taking long walks along the beach, listening to engaging podcasts, and practising yoga..

About NAPA Centre 

Learn about Pitt-Hopkins syndrome and therapy options at NAPA Centre Paediatric therapy clinics in Austalia, UK, and US.NAPA specialises in working with children with physical and neurological delays. In addition to working with children with more common diagnoses such as cerebral palsy and Down syndrome, NAPA has a special interest and expertise with children with rare, multiple and complex conditions. NAPA Centre’s Intensive Model of Therapy (IMOT) is world-renowned, and one of the leading clinics in Australia for paediatric therapy programs with a large multi-discliplinary team of Occupational Therapists, Physiotherapists and Speech Therapists all working together. Families routinely travel from all parts of Sydney, the NSW region, from across Australia and even from the Australasian region to access NAPA’s unique and effective programs for their children.

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