Down's syndrome

Also called Down syndrome, Trisomy 21

An extra copy of chromosome 21. A learning disability, a set of health risks worth watching, and a person.

What it is

Around 40,000 people in the UK have Down's syndrome, and life expectancy has changed beyond recognition: from the twenties in the 1980s to around sixty today. That shift is why this entry spends as much time on adult health as on childhood.

It is caused by a third copy of chromosome 21. It brings a learning disability, which varies widely from person to person, and a recognisable set of physical features.

It also brings a specific medical profile, and knowing that profile is what turns treatable problems into treated ones.

Signs you might notice

The diagnosis is usually made at or before birth, so signs are not what families need. Risks are.

Congenital heart defects in around half of babies, which is why every newborn gets an echocardiogram.

Hearing and vision problems, both very common and both correctable.

Thyroid problems, especially hypothyroidism, which is common and easily missed because the symptoms look like the learning disability.

Sleep apnoea. Coeliac disease. Atlantoaxial instability in the neck.

And early-onset Alzheimer's disease: the gene for amyloid precursor protein sits on chromosome 21, so dementia typically arrives twenty years earlier than in the general population.

How it can affect day-to-day life

Diagnostic overshadowing is the biggest clinical danger. New symptoms get attributed to Down's syndrome rather than investigated, and treatable illness goes untreated. The LeDeR reviews document this repeatedly.

The annual health check exists precisely to counter that, and take-up is far from universal.

Expectations do their own damage. People with Down's syndrome work, live independently with support, form relationships and give evidence to select committees. Assuming otherwise, kindly, is still assuming.

Supporting someone well

Book the annual learning disability health check every year, without fail. It is free from age 14 and it is the main tool for catching the thyroid, hearing, coeliac and cardiac problems early.

Ask for a thyroid blood test yearly. Slowing down, weight gain and low mood are far more often thyroid than they are decline.

Insist on reasonable adjustments in healthcare. Longer appointments, easy-read information and a hospital passport are required under the Equality Act 2010, not favours.

Assume competence and make health decisions with the person, using the Mental Capacity Act properly rather than assuming an absence of capacity. Read mental capacity for the detail.

Watch for early dementia from the forties, and get a baseline assessment before you need one.

Fiducia Guardian holds the health checks, medicines, consents and care team in one record a family controls, and Fiducia Life gives the person their own side of it: my day, all about me, and a way to be met as themselves.

Where to get help

Register with the GP's learning disability register. That is what triggers the annual health check invitation.

The Down's Syndrome Association have a helpline and outstanding education resources.

Ask the local authority for a Care Act assessment at 18 and start transition planning from 14.