Screenings for people with Down syndrome
People with Down syndrome have a higher chance of some health conditions, including heart, thyroid, hearing and vision problems, and of Alzheimer's disease at a younger age. (MedlinePlus Genetics) So guidance lists extra checks at set ages, from birth through adulthood. (MedlinePlus)(NHS) This page covers screening only, not treatment or medicines. Testing in pregnancy is on prenatal cell-free DNA screening (NIPT).
The main guidelines
In the US, the American Academy of Pediatrics (AAP) publishes a health supervision report for children and adolescents with Down syndrome; the current version is from May 2022. (AAP, 2022) For adults, the Global Down Syndrome Foundation (GLOBAL) published a clinical guideline in October 2020. It made 14 recommendations and 4 statements of good practice, and says the evidence base was limited. (GLOBAL guideline, 2020) In the UK, the NHS describes the checks people with Down syndrome need. (NHS)
Checks MedlinePlus lists
MedlinePlus says people with Down syndrome need to be screened for certain medical conditions, and lists: (MedlinePlus)
- An eye exam every year during infancy
- Hearing tests every 6 to 12 months, depending on age
- Dental exams every 6 months
- X-rays of the upper (cervical) spine between ages 3 and 5 years
- Pap smears and pelvic exams beginning during puberty or by age 21
- Thyroid testing every 12 months
What a Pap test involves is on Pap smear: what to expect. Routine checks for all children are on well-child checkup screenings by age.
Heart
MedlinePlus Genetics says about half of all children with Down syndrome are born with a heart defect. (MedlinePlus Genetics) MedlinePlus says an echocardiogram and an electrocardiogram (ECG) to check for heart defects are usually done soon after birth, (MedlinePlus) and the NHS says doctors will check the baby's heart soon after birth. (NHS)
An expert consensus in Circulation, an American Heart Association journal, says infants with a new or prenatal diagnosis of Down syndrome should be examined for signs of congenital heart disease and ideally have an echocardiogram. It says screening for pulmonary hypertension is part of lifelong care in Down syndrome, and that regular screening for cardiovascular disease matters because symptoms can show up in unusual ways and many people have difficulty describing them. (Circulation, 2023) The GLOBAL guideline says its recommendation on managing risk factors for cardiovascular disease agrees with existing guidance for people without Down syndrome. (GLOBAL guideline, 2020) See heart screenings by age.
Thyroid
MedlinePlus Genetics says about 15 percent of people with Down syndrome have an underactive thyroid gland (hypothyroidism). (MedlinePlus Genetics) MedlinePlus lists thyroid testing every 12 months. (MedlinePlus) See who needs a thyroid test and thyroid test results.
Hearing and vision
MedlinePlus Genetics says people with Down syndrome have a higher risk of hearing and vision problems. (MedlinePlus Genetics) MedlinePlus says hearing problems are probably caused by repeated ear infections, lists eye problems such as cataracts, and says most children with Down syndrome need glasses. (MedlinePlus) The NHS says people with Down syndrome will need to have their sight and hearing regularly checked. (NHS) See child hearing screening, hearing tests by age, child vision screening and eye exams by age.
Sleep apnea
MedlinePlus lists sleep apnea among the conditions seen in people with Down syndrome, because the mouth, throat and airway are narrowed in children with Down syndrome. (MedlinePlus) How sleep apnea is checked is on sleep apnea screening.
Celiac disease
MedlinePlus Genetics lists celiac disease among the conditions people with Down syndrome have a higher risk of. (MedlinePlus Genetics) NICE says to consider serological testing for celiac disease (coeliac disease in NICE's spelling) in people with Down syndrome. (NICE NG20) See celiac disease screening.
Weight and diabetes
The GLOBAL adult guideline says its recommendation on screening for obesity agrees with existing guidance for people without Down syndrome. Its two diabetes recommendations call for screening to start earlier and repeat at shorter intervals than for other adults, because diabetes is more common and starts earlier in adults with Down syndrome. It also says to look for secondary causes of osteoporosis, in line with existing guidance. (GLOBAL guideline, 2020) In the UK, the NHS annual health check includes weight, heart rate and blood pressure. (NHS, annual health checks) See screenings if you have overweight or obesity and A1C and blood sugar test results.
Memory checks from midlife
MedlinePlus Genetics says people with Down syndrome often have a gradual decline in thinking ability as they age, usually starting around age 50, and that about half of adults with Down syndrome develop Alzheimer's disease, commonly in their fifties or sixties. (MedlinePlus Genetics)
- GLOBAL guideline: its only strong recommendation is screening for Alzheimer-type dementia starting at age 40. (GLOBAL guideline, 2020)
- NHS: regular check-ups from about age 30 to look for possible signs of dementia, such as not being able to remember new things, getting confused more easily, or finding it harder to understand what people are saying. It says these signs can often be linked to conditions other than dementia. (NHS)
Memory tests used in general practice are on memory screening: Mini-Cog and MoCA.
The yearly check-up
The NHS says people with Down syndrome should see a GP once a year for a check-up. (NHS) Anyone aged 14 or over on their GP practice learning disability register can have a free annual health check, where a doctor or nurse does a physical check-up and asks about things that can be more common in people with a learning disability. (NHS, annual health checks) How screening can be adjusted for people with disabilities is on screenings for people with disabilities.
When to contact a provider
MedlinePlus, Down syndrome, when to contact a medical professional: (MedlinePlus)
- A provider should be consulted to determine if the child needs special education and training.
- It is important for the child to have regular checkups with a provider.
Where they differ:
- When memory checks start. The GLOBAL adult guideline starts dementia screening at age 40, (GLOBAL guideline, 2020) while the NHS says regular check-ups for signs of dementia from about age 30. (NHS)
- Diabetes compared with other adults. The GLOBAL guideline starts diabetes screening earlier and repeats it more often than for adults without Down syndrome, (GLOBAL guideline, 2020) so the usual adult schedules on screenings if you have diabetes and the age pages are not the whole picture.
- Who sets the schedule. In the US, the AAP report covers children and adolescents and the GLOBAL guideline covers adults; (AAP, 2022) (GLOBAL guideline, 2020) in the UK, the NHS points to a yearly GP check-up and, from age 14, the learning disability annual health check. (NHS) (NHS, annual health checks)
Your doctor decides what your result means for you.
Questions people ask
How often is thyroid testing done for people with Down syndrome?
MedlinePlus lists thyroid testing every 12 months among the checks people with Down syndrome should have. MedlinePlus Genetics says about 15 percent of people with Down syndrome have an underactive thyroid gland. (MedlinePlus) (MedlinePlus Genetics)
When do memory checks start for adults with Down syndrome?
The 2020 GLOBAL adult guideline made one strong recommendation: screening for Alzheimer-type dementia starting at age 40. The NHS says adults with Down syndrome should have regular check-ups from about age 30 to look for possible signs of dementia. (GLOBAL guideline, 2020) (NHS)
Are hearing and eye checks needed every year?
MedlinePlus lists an eye exam every year during infancy and hearing tests every 6 to 12 months, depending on age. The NHS says people with Down syndrome will need their sight and hearing checked regularly. (MedlinePlus) (NHS)
Should people with Down syndrome be tested for celiac disease?
NICE says to consider serological testing for celiac disease (coeliac disease in NICE's spelling) in people with Down syndrome. MedlinePlus Genetics lists celiac disease among the conditions people with Down syndrome have a higher risk of. (NICE NG20) (MedlinePlus Genetics)
Is there a yearly check-up for adults with Down syndrome in the UK?
The NHS says people with Down syndrome should see a GP once a year for a check-up, and that anyone aged 14 or over on their GP practice learning disability register can have a free annual health check. (NHS) (NHS, annual health checks)