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What is PURA Syndrome and What Are the Treatment Options?

Oct 23rd, 2023 | by Kate Alexander

Kate Alexander

October 23rd, 2023

What is PURA Syndrome?

PURA Syndrome, or PURA-related neurodevelopmental disorder, is a condition characterized by mild to moderate developmental delay, moderate to severe intellectual disability, low muscle tone, seizures, and feeding difficulties. PURA is the name given to a gene on chromosome 5; there are two copies of this gene. Approximately 470 children and adults worldwide are affected by PURA Syndrome. It was first reported in medical literature in 2014.

What is the Cause of PURA Syndrome?

PURA Syndrome occurs when one of the two copies of the PURA gene does not function normally. This can be caused by a variant or mutation, or by gene deletion. This is thought to lead to reduced levels of the Pura protein, which is important for normal brain development, as well as nerve cell growth and nerve signals.

What Are Some Challenges Children With Pura Syndrome Will Face?

  • Low muscle tone (hypotonia) and generalised weakness
  • Delayed motor development (i.e. difficulties learning to roll, sit, crawl and walk, difficulties with reaching, grasping and manipulating objects)
  • Poor balance and unsteady gait
  • Delayed expressive communication (ability to communicate using words or phrases)
  • Intellectual disability and learning difficulties
  • Problems with swallowing (dysphagia) and feeding difficulties
  • Seizures (epilepsy)
  • Vision problems
  • Infants may experience excessive sleepiness, low body temperature, and breathing issues; these typically resolve around 1 year of age
  • Other features of PURA Syndrome can include abnormalities of the heart, eyes, gastrointestinal system, urogenital system, and skeleton.

What Are Some Treatment Options for Pura Syndrome?

Whilst there is no cure for PURA Syndrome, early intervention through multidisciplinary treatment is recommended to support development of gross motor, fine motor, feeding, communication, and cognitive skills.

  • Physiotherapy may focus on improving muscle tone, increasing strength, coordination and balance.
  • Occupational therapy may target upper limb strength and functional use to support activities of daily living such as dressing.
  • Speech and language pathology may address receptive and expressive language, and may also support feeding difficulties.

About the Author

Kate is a paediatric physiotherapist at NAPA Centre Sydney. Kate knows that a little bit of fun and laughter is the key to getting the job done. After seeing the benefits of intensive therapy firsthand, Kate is excited to help make a difference in the lives of NAPA kids and their families.

About NAPA Centre 

NAPA Centre provides paediatric therapy services to children diagnosed with PURA syndrome. Learn more about treatment options in this blog post.

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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