Understanding the functional impact of Stickler Syndrome

The same diagnosis can lead to different disability-related needs. For Stickler Syndrome, evidence should identify the specific permanent impairment, its severity, the person's current capabilities and the impact on daily activities. A specialist report is more informative when it describes what the individual can and cannot do in real situations, rather than only repeating a diagnosis. It is also important to separate impairment from a temporary medical complication or an activity limitation that has been resolved by appropriate treatment.

Areas to explore during a functional assessment

• Receiving spoken, signed, tactile or written information in a usable format: document whether the person manages independently, with assistive technology, with verbal prompts or with hands-on help.
• Navigating unfamiliar buildings, transport and public spaces safely: document whether the person manages independently, with assistive technology, with verbal prompts or with hands-on help.
• Accessing conversations, warnings, appointments and services: document whether the person manages independently, with assistive technology, with verbal prompts or with hands-on help.
• Using prescribed sensory equipment or accessible communication supports: document whether the person manages independently, with assistive technology, with verbal prompts or with hands-on help.

Where relevant, ask whether support is needed throughout the day, during particular activities or only during periods of deterioration. Record the frequency, duration and type of assistance. This gives the participant, family and allied health team a practical basis for discussing disability support without presuming a standard level of need.

Detailed examples of support needs

When considering Stickler Syndrome, the following reported features can be discussed with the treating team and linked to measurable day-to-day impacts:

• Nearsightedness or retinal problems, occasionally with risk of retinal detachment: ask the treating professional how this affects the person's usual daily tasks, what is permanent and which support is actually needed.
• Hearing impairment of differing degrees: ask the treating professional how this affects the person's usual daily tasks, what is permanent and which support is actually needed.
• Joint hypermobility or earlier-onset arthritis: ask the treating professional how this affects the person's usual daily tasks, what is permanent and which support is actually needed.
• Potential difficulties walking or performing manual tasks: ask the treating professional how this affects the person's usual daily tasks, what is permanent and which support is actually needed.

For example, a functional report might explain that the person can prepare a simple meal when ingredients are arranged within reach, but needs another person's assistance for tasks requiring sustained standing, safe transfers, sequencing or accessible communication. A different person with the same diagnosis may prepare meals independently and need support mainly with travel or social participation. The report should state the person's actual experience, not copy either example as a presumed fact.

Preparing stronger evidence for the NDIA

1. Diagnosis and impairment: identify the relevant condition, any confirmed subtype, the body functions affected and why the impairment is considered permanent or likely permanent.
2. Functional capacity: describe communication, social interaction, learning, mobility, self-care and self-management using concrete tasks and observations.
3. Support already used: record assistive technology, rehabilitation, clinical treatments and informal assistance, including what these have and have not achieved.
4. Frequency and reliability: explain how often help is required, whether the person can complete the activity safely and consistently, and whether needs fluctuate.
5. Participation: document the impact on work, education, family life, community involvement and the person's own goals.
6. Professional evidence: include the most relevant specialist and allied health reports; ask clinicians to distinguish medical treatment from ongoing disability-related assistance.

The NDIA's functional capacity guidance considers the help a person ordinarily requires, including supervision, guidance, prompting, prescribed equipment or physical assistance. Evidence should reflect the person's usual life, not only their best or worst day.

Building a practical support plan

Start with a goal the person chooses, such as getting ready in the morning, participating in a community group, using public transport or managing a home routine. Identify the barriers, the person's existing skills and the minimum effective support. Consider whether an occupational therapist, physiotherapist, speech pathologist or other qualified professional should assess equipment, communication or safe movement. The person and their chosen representatives should agree on how workers will assist and how progress will be reviewed.

For higher-intensity needs, a written individual care plan should specify the task, clinician instructions, training and escalation procedures. The NDIS may fund eligible disability-related health supports, including some continence, dysphagia, seizure, respiratory and wound supports, but ordinary medical treatment and medicines generally remain healthcare responsibilities. Never assume that all clinical care is funded because a diagnosis appears on List A or List B.

Common questions about daily support and eligibility

Sources: NDIS functional capacity guidance, NDIS List B and NDIS disability-related health supports.