PURA Syndrome is a rare genetic disorder that affects neurodevelopment. According to the PURA foundation, there are only 780 confirmed cases of the disorder globally.⁴ It arises from haploinsufficiency. This occurs when one copy of the gene is insufficient to perform the task properly. Most of your genes come in pairs, usually one from each parent; however, having one working copy of the gene is normally sufficient. In conditions like PURA syndrome, having one working copy doesn’t produce the protein amount required in the body, leading to developmental issues such as delays in speech.¹ This article will explore further how speech is affected in PURA syndrome and the importance of speech therapy in improving your quality of life.

Why Speech Therapies Matter in Rare Disorders

PURA is described as a congenital genetic condition, which means that you show signs of hypotonia (low muscle tone), feeding difficulty, and delayed development from birth. There is no cure for the disorder, so it is managed through a multidisciplinary approach. You may show widespread developmental issues, but difficulty with speech and communication remains the most common and impactful symptom experienced.²

Speech and language therapy is often one of the most common steps in supporting you with PURA syndrome. It helps you find your voice by tailoring strategies to your individual needs and communication. For some, this may mean working on stuttering, while others may need support with dysarthria, a condition that affects muscle control and makes speech sound slurred or slow. 

Starting early makes a big difference. With early intervention, you can begin to develop stronger communication skills and gain the skills needed to enhance your quality of life. These help you share how you feel, describe pain, ask for help, and connect with people around you. It also increases your confidence and social engagement. Over time, these skills can prepare you for academic progress and open up more opportunities for learning and personal growth.³

Communication Challenges in PURA syndrome 

You may struggle not only with verbal expression but also with understanding spoken language. While many remain non-verbal, those who do speak typically find comprehension more difficult than expressing themselves.¹ This can make everyday communication especially difficult, not just for you, but also for your family, who are trying to understand and connect with you.

A major part of the challenge comes from hypotonia or low muscle tone. It affects the muscles needed for speech, making it harder to form clear sounds. As a result, you may sound unclear or slow in speech. Without early therapeutic intervention, these difficulties may greatly impact your quality of life.. 

Tools and Techniques: From ACC to Oral-Motor Exercises 

For individuals with PURA syndrome, traditional speech therapy may not be enough on its own. In such cases, additional support through communication tools can make a big difference. That’s where Augmentative and Alternative Communication (AAC) tools come in. These tools, which range from simple picture boards to advanced speech-generating devices, offer new ways for individuals to express themselves. Depending on your needs, the following are examples of AAC tools and systems used:⁵

Low-tech AAC options

• Communication Boards: images, symbols, or written words on a board or in a binder. These tools allow you to point to pictures that represent daily routines or preferences, making it easier to communicate without speech
• Picture Exchange Communication Systems (PECS): This utilises picture cards to allow you to form sentences and make requests. It is a simple and affordable approach to enhancing communication skills

High-tech AAC options

• Speech Generating Devices: Using electronic devices to create spoken words and phrases operated in different ways, either through handheld devices or eye tracking devices
• Eye Tracking and Head Tracking Devices: Ideal for individuals with limited physical movement. Eye or head tracking devices allow you to select words and symbols to form sentences
• Tablet-based apps: The use of smartphones and tablets equipped with AAC apps can also be used as a communication aid. These apps are designed to be versatile and use various methods, such as text-to-speech options. This method can also be a more cost-effective method to consider

How to choose the right ACC device

Choosing the best communication tool for PURA syndrome isn't a one-size-fits-all process. It takes time, care, and collaboration between families, speech therapists, and other healthcare professionals. Many factors, such as physical ability, communication level, lifestyle, and environment, are taken into consideration, but ultimately it is a highly personalised process. These are a few general considerations when choosing AAC;

• Motor skills: Considering things like motor skills and physical limitations can play an important role in selecting the most appropriate tool and communication aid
• Cognitive skills: considering whether simple visual-based communication is preferred or if they can use more complex tools is essential
• Budget and Finance: Cost depends on what approach you are going for and can vary widely. It’s important to consult with your GP or speech therapist early on to explore what resources, support services, or funding options may be available through local healthcare

What does progress look like?

Progress in communication for individuals with PURA syndrome often follows a nonlinear path, with unique milestones for each individual.

• Vocalisation emerges first: You may start by making sounds and mumbling your words. This can be an important early sign in developing communication skills
• Understanding develops early: You may show good comprehension and can follow instructions like “come here “ or “sit here”  before you can express yourself verbally
• Alternative communication: Those who remain non-verbal may learn to use the signs or AAC tools, such as picture boards, communications apps, to engage in social interaction as their primary form of communication 

How progress manifests in each person differs widely and is not clear-cut. Measuring progress through small, meaningful achievements like making new sounds or responding consistently to simple commands reflects growth in communication and confidence.⁶

Summary 

PURA syndrome is a rare genetic disorder affecting brain development, with fewer than 800 confirmed cases globally. Most individuals with PURA commonly suffer from delayed speech and language skills, and early intervention of speech therapy is the most impactful form of support. Tools like AAC form an essential part of the support plan for individuals with the disorder. Progress varies for each child and is often measured through small but meaningful milestones, like vocalising sounds or using symbols to communicate.