Disability Awareness Hub: Spotlight on SHINE Syndrome

At helpz, we’re passionate about raising awareness and supporting individuals with rare and complex conditions.

One such condition is SHINE Syndrome, a recently named genetic disorder that affects brain development and function. First identified in 2021, SHINE Syndrome is linked to mutations in the DLG4 gene, which disrupts the production of a key brain protein called PSD95—essential for healthy brain cell communication.

What Does SHINE Stand For?

SHINE is an acronym that captures the core challenges faced by individuals with the syndrome:

S – Sleep issues

H – Hypotonia (low muscle tone or floppiness)

I – Intellectual disability

N – Neurological disorders

E – Epilepsy

Each person with SHINE Syndrome experiences a unique combination of symptoms, which may include:

• Difficulty sleeping or needing excessive sleep
• Delayed motor milestones and challenges with mobility
• Intellectual disability affects learning, communication, and social participation
• Neurological conditions such as autism, ADHD, sensory processing disorders, and migraines
• Epilepsy, often with complex or sleep-related seizure types

Other Possible Challenges

Some individuals may also face additional health concerns, including:

• Bone and joint issues
• Structural brain changes
• Speech and task-related difficulties
• Anxiety, psychosis, vomiting, and eye problems

Common Behaviours of Concern



While research is still emerging, behaviours such as outbursts, hyperactivity, repetitive actions, and self-harm have been observed in some individuals. Importantly, no two people with SHINE Syndrome are alike, support needs vary widely.

What Can Help?

A multidisciplinary approach is key. Support may include:

• Neurological and genetic assessments
• Behavioural therapy and medication for sleep or seizures
• Occupational and physiotherapy for mobility and fine motor skills
• Speech therapy for communication and swallowing
• Vision services and adaptive devices
• Individual education plans and early intervention programs
• Emotional and practical support for families

Resources and Support Networks



Families and carers can access valuable resources through:

• DLG4 SHINE Foundation
• Rare Voices Australia
• Disability Gateway
• Council for Intellectual Disability
• Vision Australia