Down Syndrome: Development, Health, Care

What is Down syndrome?

Down syndrome is a genetic condition in which a person has an extra copy of chromosome 21, usually in every cell.⁠¹ Chromosomes carry the genes, and the extra one changes how a baby’s body and brain develop. Its other name, trisomy 21, means three copies of chromosome 21.⁠^1,16

It is a condition, not a disease. The National Down Syndrome Society (NDSS) calls it a condition or a syndrome, not a disease or birth defect, and notes that people with Down syndrome are part of the intellectual and developmental disability community.⁠¹⁷

Every person is different. Symptoms vary from person to person and over a lifetime, and not every person has serious health problems.⁠^3,18

How common is Down syndrome?

It is the most common chromosomal condition diagnosed in the United States. CDC counts about 5,775 babies with Down syndrome born each year,⁠¹ which its Living with Down Syndrome page puts at about 1 in every 640 births.⁠⁵ Estimates vary with the data used: NDSS gives 1 in 775 as of 2018.⁠⁶ About 200,000 people in the US have Down syndrome.⁠¹⁶

Who first described Down syndrome, and why is it called that?

The English physician John Langdon Down published an accurate description in 1866, and the condition is named for him; he did not have it.⁠^6,17 In 1959 the French physician Jérôme Lejeune found that people with Down syndrome have 47 chromosomes instead of the usual 46.⁠⁶

In the US the preferred name is Down syndrome, without the apostrophe and the s, because the name honors the doctor who described it rather than someone who had it.⁠¹⁷

What causes Down syndrome?

A random error in cell division. In nondisjunction, a pair of chromosomes fails to split, so an egg or sperm ends up with an extra chromosome 21, and the baby then has three copies.⁠² Most of the time the error happens at random while the egg or sperm is forming.⁠²

Nothing a parent did causes it. NICHD says no behavioral activity of the parents or environmental factor is known to cause Down syndrome, and NDSS notes there is no definitive research showing it is caused by environmental factors or by what parents did before or during pregnancy.⁠^2,6

Is Down syndrome genetic or hereditary?

It is genetic, but it is usually not inherited. Trisomy 21 and mosaic Down syndrome are not inherited, and NDSS puts the share of all cases with a hereditary component at about 1%.⁠^6,16

The exception is translocation Down syndrome. A parent who does not have Down syndrome can carry a rearranged chromosome 21 and pass it on, though about three-quarters of translocations arise new.⁠^2,4 Testing the parents’ chromosomes shows which it is, and a genetic counselor can explain the chance in future pregnancies.⁠²

Does Down syndrome come from the mother or the father?

Usually the mother’s egg. In most cases the extra chromosome comes from the egg, in under 5% from the father’s sperm, and in the rest the error happens after fertilization as the embryo grows.⁠²

Can Down syndrome be prevented?

Nothing parents do is known to cause it, so there is nothing known to avoid: NICHD says no behavioral activity of the parents or environmental factor is known to cause Down syndrome.⁠² Age is the only factor NDSS says has been linked to a higher chance, and it is covered below.⁠⁶

What are the types of Down syndrome?

There are three, and the physical features and behaviors are similar in all of them.⁠¹

There are no distinct cognitive or medical differences between translocation and complete trisomy 21.⁠² In mosaic Down syndrome, how a person is affected can depend on how many cells carry the extra chromosome, though people with mosaicism can have any of the associated medical problems.⁠^2,4

What are the risk factors for Down syndrome?

The mother’s age is the main known one. The chance rises with age, especially from 35, and parents who have had one child with Down syndrome have a higher chance of another, at any age.⁠¹ Parents who have a chromosomal condition themselves, or carry a translocation, are also more likely to have a child with Down syndrome, which occurs in all ethnic and economic groups.⁠^2,19

Most babies with Down syndrome are still born to mothers under 35, because younger women have more babies: NDSS puts it at 51%.⁠^1,6

What are the chances of having a baby with Down syndrome by age?

About 1 in 350 at age 35, rising to 1 in 100 at 40 and about 1 in 30 at 45, according to NDSS.⁠⁶

What is the chance of having another child with Down syndrome?

For most families it is low. NDSS estimates about 1 in 100, up to age 40, after a baby with trisomy 21, and the AAP notes the chance ranges from 1% in most families to 100% in some circumstances, depending on many factors.⁠^4,6 Genetic counseling works out the chance for each family.⁠²

How is Down syndrome diagnosed before birth?

With two kinds of tests, both offered to every pregnant woman. Screening tests estimate the chance that a baby has Down syndrome; diagnostic tests can say whether it does.⁠^1,7 Neither can predict how Down syndrome will affect a particular baby.⁠¹

Whether to test is your choice, and a genetic counselor can help you weigh it.⁠^7,9 Blood screening is less reliable with twins or triplets.⁠⁹

What does a positive Down syndrome screening result mean?

That the baby has a higher chance than average, not that the baby has Down syndrome. A negative result means a lower chance but does not rule it out; a positive cell-free DNA result should be followed by CVS or amniocentesis.⁠⁷

Can an ultrasound show Down syndrome?

It can show signs, but it cannot diagnose it. Ultrasound may find features linked to Down syndrome, such as heart defects, extra skin at the back of the neck or a “double bubble” that suggests a blocked bowel, which is why the AAP calls it an additional screening tool.⁠⁴ A special ultrasound of the heart before birth helps plan the baby’s care.⁠¹⁰

How is Down syndrome diagnosed after birth?

By the baby’s physical signs, then a blood test of the chromosomes. A physical exam is the most sensitive test in the first 24 hours, and a chromosome test confirms it.⁠^4,9 Rapid results usually come within 48 hours and the complete analysis within 3 to 5 days.⁠¹⁰

What are the signs of Down syndrome in a newborn?

The physical signs are usually present at birth and become clearer as the baby grows.⁠¹

• Low muscle tone

  Poor muscle tone or loose joints.⁠^1,3

• Eyes

  Almond-shaped eyes that slant up, sometimes with small white spots on the colored part (Brushfield spots).⁠^1,3

• Face and neck

  A flattened face and nose bridge, small ears, a short neck with extra skin at the back.⁠^1,3

• Tongue

  A tongue that tends to stick out of the mouth.⁠¹

• Hands

  A single line across the palm, small pinky fingers, small hands and feet.⁠¹

• Feet

  A deep groove between the first and second toes.⁠³

Can a baby with Down syndrome have few of the physical signs?

Yes. A person with Down syndrome may have these characteristics to different degrees or not at all, and many of them are also common in people without it, which is why the diagnosis is confirmed with a blood test.⁠^6,9

What health problems are common with Down syndrome?

Hearing loss, eye problems, sleep apnea, ear infections and heart defects are among the most common, and many can be treated.⁠^4,18 These are the figures the AAP’s 2022 report gives.⁠⁴

What heart problems do babies with Down syndrome have?

About half are born with a heart defect: estimates run from 40% to 50% (AAP) to 50% to 65% (CDC).⁠^4,5 The most typical are ventricular or atrioventricular septal defects, holes between the heart’s chambers.⁠⁴

Every newborn with Down syndrome should have an echocardiogram read by a pediatric cardiologist, even if one was done before birth.⁠^4,10 Some defects are minor; others need surgery soon after birth, and children are also at higher risk of high blood pressure in the lungs.⁠^4,18

What is atlantoaxial instability in Down syndrome?

Instability of the bones at the top of the spine, under the base of the skull, which can press on the spinal cord. Children with Down syndrome are at slightly higher risk, and 1% to 2% have symptoms.⁠^4,18

Routine neck X-rays are not needed without symptoms, and daily activity should not be limited by unneeded worries.⁠¹⁰ Tell your child’s doctor about a stiff or sore neck, a head tilt, or changes in walking, in using the arms or legs, or in bowel or bladder control.⁠¹⁰ The neck is kept in a neutral position during anesthesia and surgery, and contact sports such as football, soccer and gymnastics carry a risk of spinal cord injury.⁠⁴

Is Down syndrome linked to leukemia?

Leukemia is more common in children with Down syndrome but still rare, about 1%.⁠⁴ Some newborns have a temporary blood condition, transient abnormal myelopoiesis, so the AAP recommends a complete blood count by 3 days of age.⁠⁴

Is autism more common in children with Down syndrome?

Yes. The AAP puts autism at 7% to 19% of children with Down syndrome, and a 2015 meta-analysis of autism features across genetic syndromes, from 168 papers, estimated 16% in Down syndrome.⁠^4,20 The AAP asks doctors to screen for it and to refer a child who may have autism or ADHD for evaluation as soon as it is suspected.⁠^4,10

Read nextAutism: signs, diagnosis and support

What is Down syndrome regression disorder?

A loss or decline of skills a person already had, in language, thinking, behavior or daily living, described in late childhood, the teens or early adulthood.⁠^4,21 An international panel agreed on the name Down syndrome regression disorder in 2022; catatonia, agitation and hallucinations have also been reported.⁠²¹

What health checks does a child with Down syndrome need?

The usual checkups and vaccines, plus a few extra tests at set ages. The American Academy of Pediatrics publishes a schedule for children with Down syndrome; its 2022 report and the family guide based on it set out these checks.⁠^4,10

Growth is tracked on CDC’s growth charts for children with Down syndrome, which were drawn from a group of children who may not represent every child.⁠^10,22 Dental care starts within 6 months of the first tooth or by age 1; delayed or missing teeth are common.⁠^4,18

When should a child with Down syndrome have a sleep study?

Between 3 and 4, for every child, the AAP says, because sleep apnea is common and parents’ observations do not reliably rule it out.⁠^4,10 Tell the doctor sooner about snoring, loud breathing, pauses in breathing, or daytime sleepiness.⁠¹⁰

How does Down syndrome affect development?

Children with Down syndrome reach milestones later, but they reach many of them. Low muscle tone slows rolling over, sitting, standing and walking, and NICHD notes that children eventually meet many of these milestones.⁠³

Learning is affected too. Cognitive impairment usually ranges from mild to moderate and is only rarely severe, and the AAP notes that people with Down syndrome often function better socially than their test scores predict.⁠^3,4

RelatedHypotonia (low muscle tone)Delayed motor milestones

When do children with Down syndrome sit and walk?

Later than other children, with a wide range. In a 2015 study of 79 children with Down syndrome, 10% of those under 3 could walk, and 95% of those aged 3 to 6.⁠²³ Researchers have built a gross motor schedule from 509 children with Down syndrome, so a child’s progress can be compared with other children who have it.⁠²⁴

How does Down syndrome affect speech and language?

Most children understand more than they can say. Expressive language lags behind comprehension, and speech is often slower to come, but most children develop the communication skills they need, and language keeps developing through the teens.⁠^3,10,25

Sign language and pictures can bridge the gap until speech comes, and ASHA notes that augmentative and alternative communication (AAC), often feared to delay speech, may help improve natural speech.⁠^11,26 Good hearing matters for speech, which is one reason hearing is tested so often.⁠^4,10

How does Down syndrome affect learning?

Unevenly. Nonverbal learning and memory are relative strengths compared with verbal skills, while attention and planning skills are harder and become more so with age.⁠²⁵ Children may become frustrated when they find it hard to communicate.⁠¹¹

Are there levels or a spectrum of Down syndrome?

No official levels, but a wide range. The AAP describes cognitive impairment that may be mild, is usually moderate and is occasionally severe, and NDSS and MedlinePlus describe it as usually mild to moderate.⁠^4,6,16 People with mosaic Down syndrome may be less affected, though not always.⁠^1,4

What therapies help children with Down syndrome?

Physical, occupational and speech therapy. There is no single standard treatment; a child is usually cared for by a team that includes physicians, special educators and speech, occupational and physical therapists.⁠¹¹ The AAP advises starting referrals for speech, fine motor and gross motor therapies in the first month of life, and reviewing them at checkups in early childhood.⁠⁴

How does physical therapy help a child with Down syndrome?

It builds motor skills, strength, posture and balance. A physical therapist helps a child work with low muscle tone in ways that avoid long-term problems, such as an efficient walking pattern rather than one that might cause foot pain.⁠¹¹

Next stepPhysical therapy for Down syndromeFind a physical therapist

How does occupational therapy help a child with Down syndrome?

It adapts everyday tasks to a child’s abilities, such as eating, dressing, writing and using a computer, sometimes with tools like an easier-to-grip pencil; in high school it can help teens find jobs and skills that match their interests.⁠¹¹

Next stepOccupational therapy for Down syndromeFind an occupational therapist

How does speech therapy help a child with Down syndrome?

It improves communication and how a child uses language, and early, ongoing speech and language work is particularly helpful.⁠^3,11 A speech-language therapist can teach signs and pictures until speech comes, and can help a baby breastfeed when low muscle tone makes feeding hard.⁠^11,18

Next stepSpeech therapy for Down syndromeFind a speech therapist

Is there a cure for Down syndrome?

No. There is no cure, and treatment follows each person’s own physical and intellectual needs.⁠^10,11,15

Research continues. In a 2025 study, Japanese researchers used CRISPR gene editing to remove the extra chromosome 21 from lab-grown stem cells and skin cells, an approach they hope will lay groundwork for future treatments; the work was done in cells in the lab, not in people.⁠²⁷

RelatedPhysical therapyOccupational therapySpeech therapyPhysical Therapy for Down Syndrome: A Parent's GuideOccupational Therapy for Children With Down SyndromeSpeech Therapy for Down Syndrome: A Parent's Guide

How does early intervention help a baby with Down syndrome?

It brings therapy and support in the first three years. Research shows early intervention improves outcomes for children with Down syndrome, and it can begin shortly after birth and continue until age 3.⁠¹¹ The AAP says it is not too early to start looking for these services in the first month.⁠¹⁰

In the US, a baby with Down syndrome qualifies under Part C of the Individuals with Disabilities Education Act, which covers children under 3 with a diagnosed condition, such as a chromosomal abnormality, that has a high probability of causing developmental delay.⁠¹²

1. Refer. Parents can refer their own child to the state’s early intervention program.⁠²⁸
2. Evaluation. The evaluation and assessment are done at no cost to the family.⁠¹³
3. A plan. Service coordination and the family plan are also at no cost; states may charge sliding fees for some services.⁠¹³
4. At age 3. Most children then receive services through the local school district.⁠¹¹

A family the state finds unable to pay must receive all Part C services at no cost.⁠¹³

What school support do children with Down syndrome get?

Special education under IDEA, through the end of high school or age 21. A team that includes the parents writes an Individualized Education Program (IEP) with the child’s goals.⁠¹¹

The law requires children with disabilities to be educated with children who are not disabled to the maximum extent appropriate.⁠²⁹ Integration into regular schools has become much more common, students with Down syndrome are included in typical classrooms across the country, and more of them graduate with diplomas and go on to college programs.⁠^11,30

What is the life expectancy of people with Down syndrome?

About 60 years on average today, according to the AAP.⁠¹⁴ It has risen fast: CDC reports an average of about 10 years in 1960 and about 47 in 2007, and the Global Down Syndrome Foundation’s adult guideline cites 25 years in 1983 and 60 in 2020.⁠^5,31

Survival in the first year is lower for babies born with a very low birth weight or a heart defect, and CDC notes that Black infants with Down syndrome have lower survival past the first year.⁠⁵

What is life like for adults with Down syndrome?

Fuller than ever before, NICHD says. More young people with Down syndrome are learning to drive and finishing high school, and many adults hold jobs, live independently and form meaningful relationships, and some marry.⁠^15,30

Do people with Down syndrome get Alzheimer’s disease?

Many do, though not all. Chromosome 21 carries the gene for amyloid precursor protein, most people with Down syndrome have the brain plaques of Alzheimer’s by age 40, and 50% or more develop dementia as they age, usually in their fifties or sixties.⁠^16,32 This form is not passed down from parent to child.⁠³²

The Global Down Syndrome Foundation’s adult guideline makes one strong recommendation: screening for Alzheimer-type dementia from age 40. Changes in behavior may be the best indicators of dementia.⁠^15,31

How should you talk about Down syndrome?

Person first. NDSS asks that people with Down syndrome be referred to as people first, so “a child with Down syndrome” rather than “a Down syndrome child,” and that the condition be called Down syndrome, not “Down’s.”⁠¹⁷ People have Down syndrome; they do not suffer from it and are not afflicted by it.⁠¹⁷

People with Down syndrome have feelings just like anyone else, and many understand more than they can say.⁠^10,30

Related on DrSensory

• Physical therapy for Down syndrome

  What a physical therapist works on, from infancy to walking.

• Occupational therapy for Down syndrome

  Daily activities, fine motor skills and sensory processing.

• Speech therapy for Down syndrome

  Communication, feeding and swallowing.

• Hypotonia

  Low muscle tone in babies and children.

• Delayed motor milestones

  When sitting, crawling and walking come late.

• Delayed speech

  Late talking in young children.

• Physical therapy

  The DrSensory guide to pediatric physical therapy.

• Occupational therapy

  The DrSensory guide to pediatric occupational therapy.

• Speech therapy

  The DrSensory guide to speech and language therapy.

• Autism

  Signs, diagnosis and support.

• Medical and physical conditions

  The hub for neurological and physical conditions in children.

• Find a therapist

  Occupational, physical and speech therapists by city and state.

Sources

1. Centers for Disease Control and Prevention. About Down Syndrome. Page dated January 8, 2026. Checked October 23, 2026.
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   “Down syndrome is a condition in which a person has an extra copy of chromosome 21”; “Down syndrome is the most common chromosomal condition diagnosed in the United States”; “Each year, about 5,775 babies born in the US have Down syndrome”; “People with Down syndrome often have developmental challenges, such as being slower to learn to speak than other children”; signs include “A flattened face, especially the bridge of the nose”, “Almond-shaped eyes that slant up”, “A tongue that tends to stick out of the mouth”, “A short neck”, “Small ears, hands, and feet”, “A single line across the palm of the hand (palmar crease)”, “Small pinky fingers”, “Poor muscle tone or loose joints” and “Shorter-than-average height”; “About 95% of people with Down syndrome have Trisomy 21”; translocation “accounts for about 3% of people with Down syndrome”; mosaic “accounts for about 2% of people with Down syndrome”; “People with mosaic Down syndrome may have fewer features of the condition”; “The risk of having a baby with Down syndrome increases with age. This is especially the case if you are 35 years or older when you get pregnant”; “However, the majority of babies with Down syndrome are still born to mothers less than 35 years old. This is because there are many more births among younger women”; “Parents with one child with Down syndrome have a higher chance of having another child with Down syndrome regardless of age”; “Screening tests do not provide an absolute diagnosis”; “Neither screening nor diagnostic tests can predict the full impact of Down syndrome on a baby”.
2. Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD). What causes Down syndrome?. Checked October 23, 2026.
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   “Down syndrome is caused by a random error in cell division that results in the presence of an extra copy of chromosome 21”; “The type of error is called nondisjunction”; “Most of the time, the error occurs at random during the formation of an egg or sperm. To date, no behavioral activity of the parents or environmental factor is known to cause Down syndrome”; “In the majority of cases, the extra copy of chromosome 21 comes from the mother through the egg”; “In a small percentage (less than 5%) of cases, the extra copy of chromosome 21 comes from the father through the sperm”; “In the remaining cases, the error occurs after fertilization, as the embryo grows”; “The symptoms of someone with mosaic trisomy 21 may vary from those of someone with complete trisomy 21 or translocation trisomy 21, depending on how many cells have the extra chromosome”; “There are no distinct cognitive or medical differences between people with translocation trisomy 21 and those with complete trisomy 21”; “Sometimes, a parent who does not have Down syndrome may carry a translocation in chromosome 21 that can be passed on to children and cause Down syndrome”; “A genetic counselor can assist families affected by translocation trisomy 21 in understanding the risk of Down syndrome in future pregnancies”.
3. Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD). What are the symptoms of Down syndrome?. Checked October 23, 2026.
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   “The symptoms of Down syndrome vary from person to person, and people with Down syndrome may have different problems at different times of their lives”; “Decreased or poor muscle tone”; “Short neck, with excess skin at the back of the neck”; “White spots on the colored part of the eye (called Brushfield spots)”; “A deep groove between the first and second toes”; “because of poor muscle tone, a child with Down syndrome may be slow to learn to turn over, sit, stand, and walk”; “It may take children with Down syndrome longer than other children to reach developmental milestones, but they will eventually meet many of these milestones”; “Cognitive impairment, or problems with thinking and learning, is common in people with Down syndrome and usually ranges from mild to moderate. Only rarely is Down syndrome associated with severe cognitive impairment”; “Most children with Down syndrome develop the communication skills they need, although it might take longer for them to do so compared with other children”; “Early, ongoing speech and language interventions to encourage expressive language and improve speech are particularly helpful”.
4. Bull MJ, Trotter T, Santoro SL, Christensen C, Grout RW; Council on Genetics. Health supervision for children and adolescents with Down syndrome. Pediatrics. 2022;149(5):e2022057010. doi:10.1542/peds.2022-057010 (PMID 35490285). Checked October 23, 2026.
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   The American Academy of Pediatrics clinical report. “The degree of cognitive impairment is variable and may be mild (IQ of 50–70), usually is moderate (IQ of 35–50), or occasionally is severe (IQ of 20–35)”; common conditions include “hearing loss (75%), obstructive sleep apnea (50%–79%), otitis media (50%–70%), eye problems (60%–80%)”, “congenital heart defects (50%)”, “symptomatic atlantoaxial instability (1%–2%)”, “transient abnormal myelopoiesis (4%–10%) and later leukemia (1%)”, “celiac disease (1%–5%)” and “autism (7%–19%)”; “People with Down syndrome often function more effectively in social situations than would be predicted based on cognitive assessment results, unless there is presence of cooccurring autism”; “Approximately three-quarters of these unbalanced translocations are de novo, and the remainder result from translocation inherited from a parent”; “People with mosaicism may be more mildly affected than people with complete trisomy 21 or translocation chromosome 21, but this is not always the case, and their condition may include any of the associated medical problems and may be indistinguishable from trisomy 21”; “The chance of recurrence for families with an affected child depends on many factors and vary greatly, from 1% in most families to 100% in some circumstances”; “The American College of Obstetricians and Gynecologists recommends that all pregnant women, regardless of age or risk status, be offered the option of screening and diagnostic testing for Down syndrome”; “The detection rate of Down syndrome by first-trimester screening is 82% to 87%, by second trimester screening is 80%, and by combined first- and second-trimester screening (referred to as integrated screening) is ∼95%”; cell-free DNA “is the most sensitive method for screening for Down syndrome”, “with a 2017 meta-analysis reporting a detection rate of 99.7%, with a false-positive rate of 0.04% in singleton pregnancies”; “Ultrasonography is an additional screening tool for Down syndrome because structural changes, including congenital heart defects, increased nuchal skin fold, “double bubble” sign suggestive of duodenal atresia, ventriculomegaly, and short–long bones, may be identified by prenatal imaging”; “A physical examination is the most sensitive test in the first 24 hours of life to diagnose trisomy 21 in an infant”; “Perform an echocardiogram, to be read by a pediatric cardiologist, regardless of whether a fetal echocardiogram was performed”; heart defects “typically ventricular or atrioventricular septal defects”; “Infants and children with Down syndrome are also at increased risk of pulmonary hypertension even in the absence of intracardiac structural defects”; “Obtain a complete blood cell count with differential by 3 days of age to evaluate for transient abnormal myelopoiesis (TAM)”; “Leukemia is more common in children with Down syndrome than in the general population but is still rare (1%)”; “Within the first 6 months of life, refer to a pediatric ophthalmologist or ophthalmologist with expertise and experience with infants with disabilities”; “repeat measurement of TSH at 6 and 12 months of age and then annually”; “behavioral audiogram and tympanometry should be performed every 6 months until normal hearing levels are established bilaterally by ear-specific testing (usually after 4 years of age)”; “There is poor correlation between negative parent-report of symptoms and polysomnogram results”; “referral to a pediatric sleep laboratory for a sleep study or polysomnogram for all children with Down syndrome between ages 3 and 4 years is recommended”; “For children on a diet that contains gluten, review for symptoms potentially related to celiac disease at each health supervision visit because children with Down syndrome are at increased risk”; “beginning at 1 year of age and annually thereafter”; “Children with Down syndrome are at slightly increased risk of symptomatic atlantoaxial subluxation”; “maintaining the cervical spine in a neutral position during any anesthetic, surgical, or radiographic procedure to minimize the risk of spinal cord injury”; “Parents can be advised that participation in contact sports, such as football, soccer, and gymnastics, places children at risk for spinal cord injury”; “Pediatricians should be aware of symptoms referred to as “acute regression in Down syndrome,” “catatonia,” or “disintegrative disorder” occurring in late childhood, adolescence, or early adulthood”; “Patients who experience loss of skills, marked mood changes, or catatonia, or who develop repetitive thoughts or behaviors that interfere with usual life activity, should be referred to specialists familiar with diagnosis and treatment of the disorder”; “Refer children who may have autism spectrum disorder, attention-deficit/hyperactivity disorder, or other psychiatric or behavioral problems for appropriate evaluation and intervention as soon as suspected”; from birth to 1 month, “Initiate referral for speech, fine motor, or gross motor therapies, unless medically contraindicated”; from 1 to 5 years, “Review early intervention, including physical therapy, occupational therapy, and speech therapy, at all health supervision visits”; “Infants with Down syndrome can breastfeed successfully, but some may need early support until a successful nursing pattern is established”; “Reassure parents that delayed and irregular dental eruption patterns are common and that hypodontia occurs with increased frequency (23%)”; “Although males with Down syndrome are usually infertile, there have been rare instances in which a male has reproduced”. Read in the Internet Archive copy of April 8, 2026.
5. Centers for Disease Control and Prevention. Living with Down Syndrome. Page dated November 22, 2024. Checked October 23, 2026.
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   “Each year, about 5,700 babies born in the United States have Down syndrome. This means that Down syndrome occurs in about 1 in every 640 babies”; “In 1960, on average, persons with Down syndrome lived to be about 10 years old. In 2007, on average, persons with Down syndrome lived to be about 47 years old”; “Babies born with a very low birth weight or a congenital heart defect are less likely to survive their first year”; “There are also racial disparities, with Black infants having a lower survival past the first year”; “Between 50 and 65% of all babies born with Down syndrome are also born with a congenital heart defect”; “Hearing loss (up to 75% may be affected)”; “Ear infections (between 50 and 70% may be affected)”; “Eye diseases, like cataracts (up to 60%)”; “Eye issues requiring glasses (50%)”.
6. National Down Syndrome Society. About Down Syndrome. Checked October 23, 2026.
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   “As of 2018, it is estimated that 1 in every 775 liveborn babies has Down syndrome (13.2 per 10,000)”; “John Langdon Down, an English physician, published an accurate description of a person with Down syndrome”, “published in 1866”; “In 1959, the French physician Jérôme Lejeune identified Down syndrome as a chromosomal condition”; “Instead of the usual 46 chromosomes present in each cell, Lejeune observed 47 in the cells of individuals with Down syndrome”; “Age is the only factor that has been linked to an increased chance of having a baby with Down syndrome resulting from nondisjunction or mosaicism”; “due to higher birth rates in younger women, 51% of children with Down syndrome are born to women under 35 years of age”; “There is no definitive scientific research that indicates that Down syndrome is caused by environmental factors or the parents’ activities before or during pregnancy”; “A 35-year-old woman has about a one in 350 chance of conceiving a child with Down syndrome, and this chance increases gradually to 1 in 100 by age 40. At age 45 the incidence becomes approximately 1 in 30”; the maternal age table gives 1 in 2,000 at 20, 1 in 1,200 at 25, 1 in 900 at 30, 1 in 350 at 35, 1 in 100 at 40, 1 in 30 at 45 and 1 in 10 at 49; “only 1% of all cases of Down syndrome have a hereditary component”; “Once a parent has given birth to a baby with trisomy 21 (nondisjunction) or translocation, it is estimated that the chances of having another baby with trisomy 21 is 1 in 100 up until age 40”; “Most individuals with Down syndrome have cognitive delays that are mild to moderate”; “each person with Down syndrome is a unique individual and may possess these characteristics to different degrees, or not at all”.
7. American College of Obstetricians and Gynecologists. Prenatal Genetic Screening Tests. Checked October 23, 2026.
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   “Both screening and diagnostic testing are offered to all pregnant women”; first-trimester screening, a blood test and nuchal translucency ultrasound, “usually are done together between 10 weeks and 13 weeks of pregnancy”; the quad screen “is done between 15 weeks and 22 weeks of pregnancy”; cell-free DNA: “This test can be done starting at 10 weeks of pregnancy. It takes about 1 week to get the results. A positive cell-free DNA test result should be followed by a diagnostic test with amniocentesis or CVS”; “A positive screening test result for aneuploidy means that your fetus is at higher risk of having the disorder compared with the general population. It does not mean that your fetus definitely has the disorder”; “A negative result means that your fetus is at lower risk of having the disorder compared with the general population. It does not rule out the possibility that your fetus has the disorder”; “It is your choice whether to have prenatal testing”.
8. American College of Obstetricians and Gynecologists. Prenatal Genetic Diagnostic Tests. Checked October 23, 2026.
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   Amniocentesis “is usually done between 15 and 20 weeks of pregnancy”; “There is a very small chance of pregnancy loss with amniocentesis”; “CVS is done earlier than amniocentesis, between 10 and 13 weeks of pregnancy”; “The chance of miscarriage with CVS is slightly higher than the chance of miscarriage with amniocentesis”.
9. Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD). How do health care providers diagnose Down syndrome?. Checked October 23, 2026.
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   “A prenatal screening test. This test can show an increased likelihood that a fetus has Down syndrome, but it cannot determine whether Down syndrome is definitely present”; “An ultrasound can detect fluid at the back of a fetus’s neck, which sometimes indicates Down syndrome”; “If a woman is pregnant with twins or triplets, a blood test will not be as reliable”; “Before having diagnostic testing, a pregnant woman and her family may want to meet with a genetic counselor to discuss their family history and the risks and benefits of testing in their specific situation”; “A diagnosis of Down syndrome after birth is often based initially on physical signs of the syndrome”; “But because individuals with Down syndrome may not have these symptoms, and because many of these symptoms are common in the general population, the health care provider will take a sample of the baby’s blood to confirm the diagnosis”.
10. American Academy of Pediatrics. Health Care Information for Families of Children and Adolescents with Down Syndrome. Version 2, October 2022. Checked October 23, 2026.
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    Based on the 2022 clinical report: “The medical issues for a child with Down syndrome change with age”; “Prenatal screening and (diagnostic) testing for Down syndrome should be offered to all families”; “getting a prenatal heart ultrasound can help your doctors give the best care to the baby”; “Talking with a medical genetics team (medical geneticist and genetic counselor) or others recommended by your child’s doctor may be helpful”; “National, state, and local parent support groups can be a very good place to learn about doctors, therapists, and other providers in your community”; “The rapid analysis results are typically available within 48 hours, whereas the complete analysis might take 3-5 days for the results”; the echocardiogram “should be done even if a prenatal echocardiogram was done”; “It is not too early in the first month of life to start to look for the developmental services (sometimes called “Early Intervention”) that will be very important in early childhood”; “Hearing should be tested at birth and again every 6 months in early childhood”; “Higher risks of hearing problems can go with middle ear fluid and ear infections”; “The eyes should be tested at birth and again at 1 year or sooner if there are concerns”; “A TSH should be obtained at birth and again at age 6 months and 1 year”; “It can stop working normally for half of people with Down syndrome by adulthood”; “a blood test (TSH) is needed every year, or sooner if symptoms change”; “When there is a problem, treatment is safe and can often be started by your primary doctor”; “Tests for low iron (ferritin, serum iron, and other tests) and anemia (CBC and other tests if needed) should be done every year”; “Daily physical activity is important to your child and should not be limited by unneeded worries”; “X-rays are not needed unless there is pain or changes in the use of hands, walking, or bowel or bladder function”; neck signs: “Stiff or sore neck”, “Change in walking”, “Change in use of arms or legs”, “Head tilt”; “AAP recommends that every child with Down syndrome have a sleep study between the ages of 3 and 4 years”; sleep signs: “Loud breathing”, “Snoring”, “Pauses in breathing during sleep”, “Daytime sleepiness”; “Many people with Down syndrome understand more than they can say”; “Speech progress can be slow in Down syndrome, but after some delays many will learn to talk”; “Ask your doctor to screen for autism because it occurs more commonly in children with Down syndrome”; “There are no medicines or therapies that can “cure” Down syndrome”.
11. Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD). What are common treatments for Down syndrome?. Checked October 23, 2026.
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    “There is no single, standard treatment for Down syndrome”; “Treatments are based on each individual’s physical and intellectual needs, as well as his or her personal strengths and limitations”; “A child with Down syndrome likely will receive care from a team of health professionals, including, but not limited to, physicians, special educators, speech therapists, occupational therapists, physical therapists, and social workers”; “Research indicates that early intervention improves outcomes for children with Down syndrome”; “This assistance can begin shortly after birth and often continues until a child reaches age 3”; “After that age, most children receive interventions and treatment through their local school district”; under IDEA, “Each child is entitled to these services from birth through the end of high school, or until age 21, whichever comes first”; “If a child qualifies for special services, a team of people will work together to design an Individualized Education Plan (IEP) for the child”; “Integration into a regular school has become much more common in recent decades”; “Physical therapy includes activities and exercises that help build motor skills, increase muscle strength, and improve posture and balance”; “A physical therapist can also help a child with Down syndrome compensate for physical challenges, such as low muscle tone, in ways that avoid long-term problems”; “help a child establish an efficient walking pattern, rather than one that might lead to foot pain”; “Speech-language therapy can help children with Down syndrome improve their communication skills and use language more effectively”; “A speech-language therapist can help a child use alternate means of communication, such as sign language and pictures, until he or she learns to speak”; “The therapist also may help an infant breastfeed because breastfeeding can strengthen muscles that are used for speech”; “Occupational therapy helps find ways to adjust everyday tasks and conditions to match a person’s needs and abilities”; self-care “such as eating, getting dressed, writing, and using a computer”; “An occupational therapist might offer special tools that can help improve everyday functioning, such as a pencil that is easier to grip”; “At the high school level, an occupational therapist could help teenagers identify jobs, careers, or skills that match their interests and strengths”; “Children with Down syndrome may become frustrated because of difficulty communicating”.
12. Individuals with Disabilities Education Act regulations, Electronic Code of Federal Regulations. 34 CFR 303.21 Infant or toddler with a disability. Checked October 23, 2026.
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    “Infant or toddler with a disability means an individual under three years of age who needs early intervention services because the individual” has a diagnosed physical or mental condition that “Has a high probability of resulting in developmental delay” and “Includes conditions such as chromosomal abnormalities”.
13. Individuals with Disabilities Education Act regulations, Electronic Code of Federal Regulations. 34 CFR 303.521 System of payments and fees. Checked October 23, 2026.
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    A State may set a “schedule of sliding or cost participation fees that may be charged to the parent for early intervention services under this part”; if the family meets the State’s definition of inability to pay, “the infant or toddler with a disability must be provided all part C services at no cost”; “The following are required functions that must be carried out at public expense, and for which no fees may be charged to parents”, including “Evaluation and assessment” and “Service coordination services”.
14. American Academy of Pediatrics. AAP Updates Recommendations for Care of Children with Down Syndrome. Published April 18, 2022. On the 2022 clinical report: “improvement in care and quality of life has increased the life expectancy of people with Down syndrome to an average age of 60”. Checked October 23, 2026.
15. Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD). Other Down Syndrome FAQs. Checked October 23, 2026.
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    “Currently, there is no cure for Down syndrome”; “More and more youth and young adults with Down syndrome are achieving some of the same milestones as other young people, such as learning to drive and finishing high school”; “Males with Down syndrome generally have a reduced sperm count and are usually unable to father children. In contrast, females with Down syndrome have regular menstrual periods and can get pregnant and carry a baby to term”; “people with Down syndrome now live fuller, richer lives than ever before as family members and contributors to their community”; “Many adults with Down syndrome form meaningful relationships and eventually marry”; “many adults with Down syndrome have developed the skills required to hold jobs and to live independently well into later adult life”; “Currently, changes in behavior may be the best indicators of dementia in people with Down syndrome”.
16. MedlinePlus Genetics, National Library of Medicine. Down syndrome. Checked October 23, 2026.
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    “All affected individuals experience cognitive delays, but the intellectual disability is usually mild to moderate”; “approximately 200,000 people in this country have the condition”; “Most cases of Down syndrome are not inherited”; “People with translocation Down syndrome can inherit the condition from an unaffected parent”; “Like trisomy 21, mosaic Down syndrome is not inherited”; “Approximately half of adults with Down syndrome develop Alzheimer's disease”; “people with Down syndrome commonly develop this condition earlier, in their fifties or sixties”.
17. National Down Syndrome Society. Preferred Language. Checked October 23, 2026.
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    “People with Down syndrome should always be referred to as people first”; “Down syndrome is named for the English physician John Langdon Down, who characterized the condition, but did not have it”; “the preferred usage in the United States is Down syndrome”; “Down syndrome is a condition or a syndrome, not a disease or birth defect”; “People with Down syndrome are part of the Intellectual and Developmental Disability (IDD) community”; people “do not "suffer from" it and are not "afflicted by" it”.
18. Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD). What conditions or disorders are commonly associated with Down syndrome?. Checked October 23, 2026.
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    “However, each individual with Down syndrome is different, and not every person will have serious health problems”; “Many of these associated conditions can be treated with medication, surgery, or other interventions”; “Almost one half of babies with Down syndrome have congenital heart disease (CHD)”; “Some children with Down syndrome have misshapen bones in the upper part of the spine, underneath the base of the skull. These misshaped bones can press on the spinal cord and increase the risk for injury”; “Some heart anomalies are minor and may be treated with medication, but others require immediate surgery”; “Infants with Down syndrome have a 62-fold higher rate of pneumonia, especially in the first year after birth, than do infants without Down syndrome”; “Poor muscle tone, combined with a tendency for the tongue to stick out, can also make it difficult for an infant with Down syndrome to feed properly”; seizures “usually occur either during the first 2 years of life or after the third decade of life”; “Health care providers recommend visiting the dentist within 6 months of the appearance of the child’s first tooth or by the time the child is 1 year old”.
19. Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD). Who is at risk for Down syndrome?. Checked October 23, 2026.
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    “Down syndrome is the most frequent chromosomal cause of mild to moderate intellectual disability, and it occurs in all ethnic and economic groups”; “parents who have a child with Down syndrome or another chromosomal disorder, or who have a chromosomal disorder themselves, are more likely to have a child with Down syndrome”.
20. Richards C, Jones C, Groves L, Moss J, Oliver C. Prevalence of autism spectrum disorder phenomenology in genetic disorders: a systematic review and meta-analysis. Lancet Psychiatry. 2015;2(10):909–916. doi:10.1016/s2215-0366(15)00376-4 (PMID 26341300). From the abstract: “We identified 168 papers reporting the prevalence of ASD phenomenology and found widely varying methods and quality of data”; “Down's syndrome (16%)”. Checked October 23, 2026.
21. Santoro JD, Patel L, Kammeyer R, et al. Assessment and diagnosis of Down syndrome regression disorder: international expert consensus. Frontiers in Neurology. 2022;13:940175. doi:10.3389/fneur.2022.940175 (PMID 35911905; PMC9335003). Checked October 23, 2026.
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    “Symptoms of this condition include subacute loss or deterioration of previously acquired developmental skills in the domains of language, communication, cognition, executive function, behavioral, and adaptive skills”; “Neuropsychiatric symptoms including catatonia, agitation, hallucination, and depersonalization have also been reported”; “78% of panelists agreeing to use the term Down Syndrome Regression Disorder (DSRD)”.
22. Centers for Disease Control and Prevention. Growth Charts for Children with Down Syndrome. Page dated November 19, 2024. “These charts can help track the growth of children with Down syndrome”; “These children might not be representative of all children with Down syndrome in the United States”. Checked October 23, 2026.
23. Malak R, Kostiukow A, Krawczyk-Wasielewska A, et al. Delays in motor development in children with Down syndrome. Medical Science Monitor. 2015;21:1904–1910. doi:10.12659/msm.893377 (PMID 26132100; PMC4500597). Checked October 23, 2026.
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    “The study group consisted of 79 children with DS (42 boys, 37 girls)”; “the walking ability was performed by 10% of children under 3 years old and by 95% of children aged 3–6 years”; “Motor development, especially standing position and walking ability, is delayed in children with Down syndrome”.
24. Winders P, Wolter-Warmerdam K, Hickey F. A schedule of gross motor development for children with Down syndrome. Journal of Intellectual Disability Research. 2019;63(4):346–356. doi:10.1111/jir.12580 (PMID 30575169). Checked October 23, 2026.
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    From the abstract: “Longitudinal data on 44 defined gross motor skills were collected on a large cohort of children with DS (n = 509)”; “The gross motor development of the child with DS can be assessed based on his or her performance relative to other children with DS”.
25. Grieco J, Pulsifer M, Seligsohn K, Skotko B, Schwartz A. Down syndrome: cognitive and behavioral functioning across the lifespan. American Journal of Medical Genetics Part C. 2015;169(2):135–149. doi:10.1002/ajmg.c.31439 (PMID 25989505). Checked October 23, 2026.
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    From the abstract: “Nonverbal learning and memory are strengths relative to verbal skills. Expressive language is delayed relative to comprehension”; “Aspects of language skills continue to develop throughout adolescence”; “Deficits in attention/executive functions are present in childhood and become more pronounced with age”.
26. American Speech-Language-Hearing Association. Augmentative and Alternative Communication (Practice Portal). “Potential AAC users may believe that AAC reduces motivation to improve natural speech and delays language development. However, AAC use may help improve natural speech when used in a multimodal approach”; “early AAC use can help develop speech and language”. Checked October 23, 2026.
27. Hashizume R, Wakita S, Sawada H, et al. Trisomic rescue via allele-specific multiple chromosome cleavage using CRISPR-Cas9 in trisomy 21 cells. PNAS Nexus. 2025;4(2):pgaf022. doi:10.1093/pnasnexus/pgaf022 (PMID 39967679; PMC11832276). From Mie University, Japan. Checked October 23, 2026.
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    “can achieve trisomy rescue by eliminating the target chromosome from human trisomy 21 induced pluripotent stem cells and fibroblasts”; “We anticipate that an AS approach will lay the groundwork for more sophisticated medical interventions targeting trisomy 21”.
28. Individuals with Disabilities Education Act regulations, Electronic Code of Federal Regulations. 34 CFR 303.303 Referral procedures. Primary referral sources include “Parents, including parents of infants and toddlers”. Checked October 23, 2026.
29. Individuals with Disabilities Education Act regulations, Electronic Code of Federal Regulations. 34 CFR 300.114 LRE requirements. “To the maximum extent appropriate, children with disabilities, including children in public or private institutions or other care facilities, are educated with children who are nondisabled”. Checked October 23, 2026.
30. National Down Syndrome Society. Facts, Myths, & Truths About Down Syndrome. Checked October 23, 2026.
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    “Students with Down syndrome are included in typical academic classrooms in schools across the country”; “Increasingly, individuals with Down syndrome graduate from high school with diplomas, and participate in postsecondary academic and college programs”; “Life expectancy for people with Down syndrome has increased dramatically in recent decades – from 25 in 1983 to approximately 60 today”; “Some choose to date, maintain ongoing relationships, and marry”; “People with Down syndrome have feelings just like anyone else”.
31. Tsou AY, Bulova P, Capone G, et al; Global Down Syndrome Foundation Medical Care Guidelines for Adults with Down Syndrome Workgroup. Medical care of adults with Down syndrome: a clinical guideline. JAMA. 2020;324(15):1543–1556. doi:10.1001/jama.2020.17024 (PMID 33079159). Checked October 23, 2026.
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    From the abstract: “average life expectancy has increased substantially, from 25 years in 1983 to 60 years in 2020”; “Only 1 strong recommendation was formulated: screening for Alzheimer-type dementia starting at age 40 years”; “Overall, the evidence base was limited”.
32. National Institute on Aging. Alzheimer’s Disease in People With Down Syndrome. Checked October 23, 2026.
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    “Many but not all people with Down syndrome develop Alzheimer’s disease when they get older”; chromosome 21 “carries a gene that produces a specific protein called amyloid precursor protein (APP)”; “By age 40, most people with Down syndrome have these plaques”; “Estimates suggest that 50% or more of people with Down syndrome will develop dementia due to Alzheimer’s disease as they age”; “This type of Alzheimer’s in people with Down syndrome is not passed down genetically from a parent to a child”.

Medical disclaimer. This page is for general educational purposes and does not constitute medical advice, diagnosis, or treatment. Always consult a qualified healthcare provider about your child. If your child has lost skills they previously had, contact their doctor promptly.