The Down Syndrome Health Checks Nobody Tells You About

The Down syndrome health checks nobody tells you about

A woman in her late thirties with Down syndrome started sleeping through her alarm. Then she stopped wanting to go to her Thursday program. Then she put on eight kilograms in five months and her support workers started describing her, in shift notes, as “flat” and “non-compliant with the morning routine.” A behaviour support referral was discussed.

Her TSH, when somebody finally ordered it, was wildly elevated. She had been hypothyroid for an unknown length of time. Six weeks after starting thyroxine she was going to her Thursday program again.

That story, with the details changed, is one of the most common in Australian disability support. It is not a story about a bad GP or bad support workers. It is a story about a screening schedule that exists, is published, is free to follow, and routinely isn’t followed, because the system does not have anybody whose job it is to follow it.

This guide sets out what that schedule contains, age band by age band, and — the part that is usually missing — how to actually get it done in Australia.

Why Down syndrome needs a schedule rather than ordinary care

Most of us get health care reactively. Something hurts, we go to the GP, something happens. That model has two specific failure points for a person with Down syndrome.

The first is that several of the conditions on the Down syndrome list are silent until they are advanced. Hypothyroidism produces fatigue and weight gain and low mood, which in a person with intellectual disability get read as personality or behaviour. Obstructive sleep apnoea produces daytime sleepiness and irritability, and up to half of children with abnormal sleep studies have parents who reported no sleep problems at all. Coeliac disease can present with nothing but slowed growth. Atlantoaxial instability is usually asymptomatic until it isn’t.

The second is diagnostic overshadowing — the well-documented tendency for clinicians to attribute a new symptom to the person’s disability rather than investigate it. A 30-year-old without Down syndrome who becomes withdrawn and stops eating gets a workup. A 30-year-old with Down syndrome who does the same gets a behaviour support plan. This is not a hypothetical bias; it is the single largest avoidable contributor to poor health outcomes in this population.

A schedule solves both problems by taking the decision out of the moment. If TSH is checked every one to two years regardless of whether anybody has noticed anything, the silent hypothyroidism gets caught. If there is a documented functional baseline, the change gets noticed as a change rather than attributed to the diagnosis.

The conditions, with the actual numbers

Before the schedule, the list. These figures come principally from the Global Down Syndrome Foundation’s adult medical care guidelines, as summarised in American Family Physician, and from the published literature on sleep-disordered breathing.

A few of those rows deserve a sentence each, because they get handled badly.

Atlantoaxial instability is the one that produces the most unnecessary anxiety and the most unnecessary X-rays. Around one in ten adults with Down syndrome has radiographic instability at the top of the cervical spine. The Global guidelines explicitly recommend against routine cervical spine X-rays in asymptomatic people, because the radiographic finding does not reliably predict who will have a problem. What they recommend instead is an annual review of signs and symptoms of cervical myelopathy — new neck pain, change in gait, loss of hand function, bladder change, torticollis. Sports screening requirements vary and may still demand imaging; that is a separate matter from clinical care.

Osteoporosis is the honest gap. There is no evidence-based screening recommendation, and the guidelines say so. What they do say is that after a fragility fracture you investigate secondary causes — hyperthyroidism, coeliac disease, vitamin D deficiency, hyperparathyroidism, and medications affecting bone. That is a sensible rule and it is often skipped in favour of simply treating the fracture.

Solid tumours and atherosclerosis are less common in Down syndrome, not more. This gets lost in the long list of elevated risks, and it is worth knowing: not everything on the standard adult preventive health list applies with equal force.

The schedule, by age band

Down Syndrome Australia’s health screening tool is organised into six age bands — birth to 6 weeks, 1 month to 2 years, 1 to 5 years, 5 to 13 years, 13 to 21 years, and 21 and over — and each band has a downloadable PDF for the GP. It is free, it is written for clinicians, and the single most useful thing a family can do is print the relevant one and take it to the appointment.

What follows is a practical synthesis, not a substitute for it.

Birth to about 6 weeks

This is the densest period and it is usually handled well, because the baby is already in the system.

The essentials are an echocardiogram regardless of whether a murmur was heard — around half of these babies have a cardiac defect and some are not audible; a full blood count, because of the risk of transient abnormal myelopoiesis and congenital leukaemia; thyroid function, which is also covered by the newborn screening heel prick but worth confirming; a hearing screen, with follow-up if it is not clearly passed; an ophthalmology review looking for congenital cataract; and attention to feeding, because hypotonia and a relatively large tongue make breastfeeding and bottle feeding genuinely harder and the weight curve is the thing to watch.

Red flags in this period that need urgent attention: bilious vomiting or failure to pass meconium, which can indicate duodenal atresia or Hirschsprung disease, both of which occur at elevated rates.

1 month to 5 years

Cardiac follow-up as directed by the cardiologist. Thyroid function annually — this is the single most repeated recommendation across every guideline, at every age. Hearing assessment every six to twelve months, because glue ear is near-universal and the narrow canals make it hard to detect; untreated conductive loss in this window directly damages language development. Vision assessment by an ophthalmologist or optometrist experienced with Down syndrome at least every one to two years. Growth monitoring on Down syndrome-specific charts, not general population charts. Coeliac screening if there are symptoms or growth concerns.

And the one that is most often missed: a sleep study by age 4. The American Academy of Pediatrics has recommended since 2011 that every child with Down syndrome have a polysomnogram by age 4 regardless of symptoms. Australian practice is inconsistent on this and a great many Australian children with Down syndrome reach school age without one. Given what untreated obstructive sleep apnoea does to cognition — one study found verbal IQ around nine points lower in children with Down syndrome who had OSA — this is not an optional extra. We have written it up separately in sleep apnoea and Down syndrome.

5 to 13 years

Thyroid annually. Hearing and vision annually. Growth and weight, with obesity prevention becoming a live issue from around 8. Dental review at least annually — periodontal disease is common and starts early. Coeliac assessment. Cervical myelopathy symptom review before any sport that involves neck loading or contact.

This band is also where behaviour and mental health start needing deliberate attention, and where the first episodes of what later gets called “challenging behaviour” tend to appear. The discipline worth adopting early: before anybody writes a behaviour support plan, rule out pain, hearing loss, vision loss, constipation, sleep apnoea and hypothyroidism. In that order. All six are common, all six present as behaviour, and all six are treatable.

13 to 21 years

Everything above continues. Added to it:

Puberty and sexual health. Young people with Down syndrome go through puberty on broadly typical timing. Fertility is reduced in men and generally present in women. Menstrual management, contraception, consent education and protective behaviours all need to be addressed, and they are addressed far less often than they should be. The assumption that a person with intellectual disability does not need sex education is both wrong and dangerous — it is a known risk factor for abuse.

Transition planning. Paediatric to adult health care transfer is a cliff in Australia and nobody is responsible for it. Somewhere around 16 to 18, a young person loses the paediatrician who has coordinated everything and acquires a GP who may never have managed an adult with Down syndrome. The handover document — diagnoses, surgical history, current screening schedule, baseline function, communication profile, who to call — has to be written by somebody, and in practice it is usually the family or nobody.

Mental health. Rates of depression and anxiety rise through adolescence and into young adulthood, and this is also the age band where Down syndrome regression disorder typically appears, with onset usually between 10 and 30 and most often after puberty. A rapid loss of skills in a teenager or young adult with Down syndrome is a medical emergency in slow motion and should never be managed as behaviour.

21 and over: the adult schedule

Here the Global Down Syndrome Foundation guidelines become specific, and they are worth following to the letter because they are the only evidence-based adult Down syndrome guidelines in existence.

Two notes on that table.

The dementia row is the one the Australian disability sector most needs to act on. Annual functional screening from 40 using the National Task Group Early Detection Screen for Dementia, based on interviews with the people who know the person, not on cognitive testing of the person. The guidelines also caution against diagnosing Alzheimer’s-type dementia before 40 — early-onset dementia in Down syndrome is real but a decline in a 30-year-old is far more likely to be something else. Alzheimer’s disease and Down syndrome covers this in depth.

The annual behavioural and psychosocial review sounds soft and is anything but. It is the mechanism by which change gets noticed. A support provider that cannot produce, on request, a written account of how a person was functioning twelve months ago has made it impossible for anybody to detect decline.

Not in the adult guidelines, and still necessary

The Global guidelines are silent on hearing, vision and sleep apnoea in adults, which has been criticised and is a genuine gap rather than a judgment that they do not matter.

The sensible Australian practice, and what we would push for:

Hearing — formal audiology every one to two years in adulthood, and sooner on any suspicion. Hearing loss in Down syndrome is progressive and often begins early. An adult who has become withdrawn, stopped participating in group conversation, or seems not to follow instructions should have their hearing tested before anybody calls it a behaviour or a cognitive change.

Vision — at least every two years, with specific attention to cataract, which occurs earlier, and keratoconus, which is substantially more common. Reduced vision also gets mistaken for reduced interest.

Sleep apnoea — a low threshold for a sleep study in any adult with daytime sleepiness, snoring, witnessed apnoeas, treatment-resistant hypertension, unexplained cognitive decline or weight gain. Given adult prevalence estimates approaching 100% in some series, the realistic question is not whether to investigate but when.

How to actually get this done in Australia

A schedule nobody owns is a document, not a service. Here is the practical machinery.

The annual health assessment

Medicare funds an annual health assessment for people with intellectual disability. It is specifically designed for this situation: a longer appointment, once a year, covering a whole-body examination, blood pressure, height and weight, a conversation about health priorities, and identification of follow-up care. Health Direct and the Department of Health describe it as taking up to an hour.

Two things make it work far better. Book a long appointment explicitly and ask whether a practice nurse is available for part of it. And complete the CHAP beforehand.

CHAP

The Comprehensive Health Assessment Program is a free, evidence-based tool built for exactly this purpose. Part 1 is filled in before the appointment by the person, a family member or a support worker. Part 2 guides the practitioner through the assessment. Free versions exist for adults and for young people aged 12 to 18.

Why it matters: a GP who sees one adult with Down syndrome every three years cannot be expected to carry the syndrome-specific screening list in their head. CHAP puts it in front of them, prompts the syndrome-specific items, and produces an action plan. The research on CHAP is reasonably consistent — it increases detection of previously unidentified health problems. The barrier is almost never GP resistance; it is that nobody prints Part 1.

Who should own the schedule

This is the question we would most like providers to answer in writing.

In a supported independent living house, the people who notice change are the support workers on shift, and the people who book appointments are typically the house coordinator or the family. The screening schedule falls between them and lands nowhere. The fix is administrative and cheap: a one-page health surveillance sheet in the person’s file listing each screening item, when it was last done, when it is next due, and who is booking it. Reviewed at every house meeting. That is it. It costs nothing and it is the difference between a person with Down syndrome getting their thyroid checked and not.

If you are choosing a provider for an adult with Down syndrome, ask to see this document for an existing resident, with names redacted. The answer tells you a great deal. We have set out the other questions worth asking in supported independent living with Down syndrome.

The funding side

The screening itself is mostly Medicare and public hospital work, not NDIS. The NDIS funds the support to access it — the worker’s time to attend the appointment, transport, the coordination to book it, and capacity building to help the person understand and participate in their own health care. Those are legitimate plan inclusions and they are frequently absent, which is part of why the schedule does not get followed.

Registered nursing, where it is needed, sits at $128.05 per hour under the 2026–27 price limits. Allied health is $193.99 for occupational therapy and speech pathology, $183.99 for physiotherapy, $188.99 for podiatry, $178.99 for dietetics and $252.99 for psychology. Dietetics is worth flagging specifically for Down syndrome: with obesity substantially elevated and resting metabolic rate lower, generic advice to eat less and move more performs badly, and a dietitian who understands the physiology performs much better.

A short list of things that are not Down syndrome

We will finish on the point that matters most, because it is the one that changes outcomes.

When an adult with Down syndrome deteriorates — gets slower, quieter, angrier, heavier, less able — the following should be ruled out before anybody reaches for a diagnosis of dementia, a behaviour support plan or an antipsychotic:

• hypothyroidism
• obstructive sleep apnoea
• hearing loss
• vision loss
• constipation
• dental pain or infection
• depression
• vitamin B12 or vitamin D deficiency
• coeliac disease
• a urinary tract infection
• medication side effects, especially anticholinergic burden
• grief, or a change in household, staff or routine that nobody flagged

Every item on that list is common in Down syndrome, presents as functional decline, and is treatable. The Global guidelines make the same point in formal language: before diagnosing dementia, rule out reversible causes.

It is not a sophisticated insight. It is just one that gets skipped, and it is the reason a woman in her late thirties spent months being described as non-compliant when what she needed was a blood test.