Vous êtes sur la page 1sur 24

Intellectual Disability

Intellectual disability (ID), once called mental retardation, is characterized by below-

average intelligence or mental ability and a lack of skills necessary for day-to-day living.
People with intellectual disabilities can and do learn new skills, but they learn them more
slowly. There are varying degrees of intellectual disability, from mild to profound.
What is intellectual disability?
Someone with intellectual disability has limitations in two areas. These areas are:
Intellectual functioning. Also known as IQ, this refers to a persons ability to learn,
reason, make decisions, and solve problems.
Adaptive behaviors. These are skills necessary for day-to-day life, such as being
able to communicate effectively, interact with others, and take care of oneself.
IQ (intelligence quotient) is measured by an IQ test. The average IQ is 100, with the
majority of people scoring between 85 and 115. A person is considered intellectually
disabled if he or she has an IQ of less than 70 to 75.
To measure a childs adaptive behaviors, a specialist will observe the childs skills and
compare them to other children of the same age. Things that may be observed include how
well the child can feed or dress himself or herself; how well the child is able to
communicate with and understand others; and how the child interacts with family, friends,
and other children of the same age.
Intellectual disability is thought to affect about 1% of the population. Of those affected, 85%
have mild intellectual disability. This means they are just a little slower than average to
learn new information or skills. With the right support, most will be able to live
independently as adults.

What are the signs of intellectual disability in children?

There are many different signs of intellectual disability in children. Signs may appear
during infancy, or they may not be noticeable until a child reaches school age. It often
depends on the severity of the disability. Some of the most common signs of intellectual
disability are:
Rolling over, sitting up, crawling, or walking late
Talking late or having trouble with talking
Slow to master things like potty training, dressing, and feeding himself or herself
Difficulty remembering things
Inability to connect actions with consequences
Behavior problems such as explosive tantrums
Difficulty with problem-solving or logical thinking
In children with severe or profound intellectual disability, there may be other health
problems as well. These problems may include seizures, mood disorders (anxiety, autism,
etc.), motor skills impairment, vision problems, or hearing problems.

What causes intellectual disability?

Anytime something interferes with normal brain development, intellectual disability can
result. However, a specific cause for intellectual disability can only be pinpointed about a
third of the time.
The most common causes of intellectual disability are:
Genetic conditions. These include things like Down syndrome and fragile X
Problems during pregnancy. Things that can interfere with
fetal brain development include alcohol or drug use, malnutrition, certain infections,
or preeclampsia.
Problems during childbirth. Intellectual disability may result if a baby is deprived
of oxygen during childbirth or born extremely premature.
Illness or injury. Infections like meningitis, whooping cough, or the measles can
lead to intellectual disability. Severe head injury, near-drowning, extreme
malnutrition, infections in the brain, exposure to toxic substances such as lead, and
severe neglect or abuse can also cause it.
None of the above. In two-thirds of all children who have intellectual disability, the
cause is unknown.

Can intellectual disability be prevented?

Certain causes of intellectual disability are preventable. The most common of these is fetal
alcohol syndrome. Pregnant women shouldnt drink alcohol. Getting proper prenatal care,
taking a prenatal vitamin, and getting vaccinated against certain infectious diseases can
also lower the risk that your child will be born with intellectual disabilities.
In families with a history of genetic disorders, genetic testing may be recommended
before conception.
Certain tests, such as ultrasound and amniocentesis, can also be performed during
pregnancy to look for problems associated with intellectual disability. Although these tests
may identify problems before birth, they cannot correct them.

How is intellectual disability diagnosed?

Intellectual disability may be suspected for many different reasons. If a baby has physical
abnormalities that suggest a genetic or metabolic disorder, a variety of tests may be done to
confirm the diagnosis. These include blood tests, urine tests, imaging tests to look for
structural problems in the brain, or electroencephalogram (EEG) to look for evidence of
In children with developmental delays, the doctor will perform tests to rule out other
problems, including hearing problems and certain neurological disorders. If no other cause
can be found for the delays, the child will be referred for formal testing.
Three things factor into the diagnosis of intellectual disability: interviews with the parents,
observation of the child, and testing of intelligence and adaptive behaviors. A child is
considered intellectually disabled if he or she has deficits in both IQ and adaptive behaviors.
If only one or the other is present, the child is not considered intellectually disabled.
After a diagnosis of intellectual disability is made, a team of professionals will assess the
childs particular strengths and weaknesses. This helps them determine how much and
what kind of support the child will need to succeed at home, in school, and in the

What services are available for people with intellectual disability?

For babies and toddlers, early intervention programs are available. A team of professionals
works with parents to write an Individualized Family Service Plan, or IFSP. This document
outlines the childs specific needs and what services will help the child thrive. Early
intervention may include speech therapy, occupational therapy, physical therapy, family
counseling, training with special assistive devices, or nutrition services.
School-age children with intellectual disabilities (including preschoolers) are eligible for
special education for free through the public school system. This is mandated by the
Individuals With Disabilities Education Act (IDEA). Parents and educators work together to
create an Individualized Education Program, or IEP, which outlines the childs needs and
the services the child will receive at school. The point of special education is to make
adaptations, accommodations, and modifications that allow a child with an intellectual
disability to succeed in the classroom.

What can I do to help my intellectually disabled child?

Steps to help your intellectually disabled child include:
Learn everything you can about intellectual disabilities. The more you know, the
better advocate you can be for your child.
Encourage your childs independence. Let your child try new things and encourage
your child to do things by himself or herself. Provide guidance when its needed and
give positive feedback when your child does something well or masters something
Get your child involved in group activities. Taking an art class or participating in
Scouts will help your child build social skills.
Stay involved. By keeping in touch with your childs teachers, youll be able to follow
his or her progress and reinforce what your child is learning at school through
practice at home.
Get to know other parents of intellectually disabled children. They can be a great
source of advice and emotional support.
A congenital disorder arising from a chromosome defect, causing intellectual impairment and
physical abnormalities including short stature and a broad facial profile. It arises from a defect
involving chromosome 21, usually an extra copy (trisomy-21).

What is Down syndrome?

Down syndrome is a set of physical and mental traits caused by a gene problem that
happens before birth. Children who have Down syndrome tend to have certain features,
such as a flat face and a short neck. They also have some degree of intellectual disability.
This varies from person to person. But in most cases it is mild to moderate.
Down syndrome is a lifelong condition. But with care and support, children who have Down
syndrome can grow up to have healthy, happy, productive lives.

What causes Down syndrome?

Down syndrome is caused by a problem with a baby's chromosomes. Normally, a person
has 46 chromosomes. But most people with Down syndrome have 47 chromosomes. In rare
cases, other chromosome problems cause Down syndrome. Having extra or abnormal
chromosomes changes the way the brain and body develop.
Experts don't know the exact cause, but some things increase the chance that you'll have a
baby with Down syndrome. These things are called risk factors.
Your risk of having a baby with Down syndrome is higher if:
You are older when you get pregnant. Many doctors believe that the risk increases
for women age 35 and older.
You have a brother or sister who has Down syndrome.
You had another baby with Down syndrome.
If you've had a baby with Down syndrome and are planning another pregnancy, you may
want to talk to your doctor about genetic counseling.

What are the symptoms?

Most children with Down syndrome have:
Distinctive facial features, such as a flat face, small ears, slanting eyes, and a
small mouth.
A short neck and short arms and legs.
Low muscle tone and loose joints. Muscle tone usually improves by late childhood.
Below-average intelligence.
Many children with Down syndrome are also born with heart, intestine, ear, or breathing
problems. These health conditions often lead to other problems, such as airway
(respiratory) infections or hearing loss. But most of these problems can be treated.
How is Down syndrome diagnosed?
Your doctor may suggest that you have tests during pregnancy to find out if your baby has
Down syndrome. You may decide to have:
Screening tests, such as an ultrasound or a blood test during your first or second
trimester. These can help show if the developing baby (fetus) is at risk for Down
syndrome. But these tests sometimes give false-positive or false-negative results.
Diagnostic tests, such as chorionic villus sampling or amniocentesis. These can
show if a baby has Down syndrome. You may want to have these tests if you have
abnormal results from a screening test or if you are worried about Down syndrome.
Sometimes a baby is diagnosed after birth. A doctor may have a good idea that a baby has
Down syndrome based on the way the baby looks and the results of a physical exam. To
make sure, the baby's blood will be tested. It may take 2 to 3 weeks to get the test results.

What kind of care will your child need?

Starting soon after birth, a baby with Down syndrome will be tested for health problems,
such as eye, ear, or thyroid problems. The sooner these problems are found, the better they
can be managed. Regular doctor visits can help your child stay in good health.
Your doctor will make a treatment plan that meets your growing child's needs. For example,
most children with Down syndrome need speech therapy and physical therapy. Teens and
adults with Down syndrome may need occupational therapy to learn job skills and learn
how to live on their own. Counseling may help with social skills and emotional issues.
Many professionals will help you and your child through life. But you are vital to your
child's success. To help your child:
Learn all you can about Down syndrome. This can help you know what to expect
and how you can help your child.
Find out what type of financial help you can get by contacting your state's
Department of Developmental Disabilities.
Check into resources in your area. For example, many states provide free early-
intervention programs for children with Down syndrome up to age 3 to help them
get off to a good start.
Look into school options for your child. Federal law requires public schools to
provide services to all children with disabilities who are ages 3 to 21.
Raising a child with Down syndrome has both challenges and rewards. Remember to take
time for yourself. And ask for help when you need it. Talking to other parents who are
raising children with Down syndrome can be a big help. Ask your doctor or hospital about
parent support groups, or contact a group like the National Down Syndrome Congress.
Down Syndrome-Cause
Down syndrome is caused by abnormal cell division in early embryo development.
Normally, a child inherits 46 chromosomes, 23 from each parent. Each chromosome carries
DNA, called genes, which tell how the brain and body should develop.
But a fetus with Down syndrome has extra or abnormal chromosomes. Having extra genetic
material changes the way the brain and body develop. The type of Down syndrome depends
on how many cells have the extra or abnormal chromosomes.
Medical experts believe the cell changes most often start in a woman's egg before or
at conception. Less often, the error occurs in sperm at conception. It is not known what
causes the cells to divide abnormally. One type of Down syndrome, called translocation-
type, may be passed down through families (inherited).

Down Syndrome - Symptoms

There are more than 50 features of Down syndrome. But not every person with Down
syndrome has all the same features or health problems. Some features and problems are
Body shape and size
Short stature (height). A child often grows slowly and is shorter than average as an
Low muscle tone (hypotonia) throughout the body. Belly muscles with low muscle
tone can make the stomach stick out.
A short, wide neck. The neck may have excess fat and skin.
Short, stocky arms and legs. Some children also have a wide space between the big
toe and second toe.
Face shape and features
Slanted eyes. The doctor may also notice small spots on the colored part of
the eye (iris).
A nasal bridge that looks pushed in. The nasal bridge is the flat area between the
nose and eyes.
Small ears. And they may be set low on the head.
Irregularly shaped mouth and tongue. The child's tongue may partly stick out.
The roof of the mouth (palate) may be narrow and high with a downward curve.
Irregular and crooked teeth. Teeth often come in late and not in the same order
that other children's teeth come in.
Health problems
Some health problems related to Down syndrome are:
Intellectual disability. Most children with Down syndrome have mild to moderate
cognitive disability.
Heart defects. About half of the children who have Down syndrome are born with
a heart defect.
Hypothyroidism, celiac disease, and eye conditions.
Respiratory infections, constipation, hearing problems, or dental problems.
Depression or behavior problems associated with ADHD or autism.

Down Syndrome - What Happens

Although every child is different, you may find it helpful to understand some patterns
of Down syndrome as your child grows. It also helps to know that most people who have
Down syndrome can flourish and live healthy, happy, and productive lives.
Many of the challenges for people with Down syndrome are related to intellectual
disability and health problems. Problems may come up at different ages.
Your baby may reach growth and development milestones later than other children do.
These may include rolling over, sitting, standing, walking, and talking.
In this age group, health problems and developmental disabilities can lead to behavior
problems. For example, a child may develop oppositional defiant disorder in part because
he or she does not communicate well or understand others' expectations.
Puberty starts at about the same ages for teens with Down syndrome as for other teens.
They may face social difficulties and vulnerabilities, such as abuse, injury, and other types
of harm. They may also have a hard time handling strong emotions and feelings. Sometimes
these struggles can lead to mental health problems, especially depression.
Men with Down syndrome most often are sterile and cannot father children. Many women
with Down syndrome can have children, and they usually have early menopause.

Down Syndrome - What Increases Your Risk

Certain things increase the chance that you will have a baby with Down syndrome. These
are called risk factors. Risk factors may be different based on the type of Down syndrome.
Trisomy 21
Trisomy 21 is the most common type of Down syndrome. People with this type have an
extra chromosome (47 instead of 46) in every cell. Risk factors for this type include:
Being older when you get pregnant. The risk of having a baby with a genetic
problem increases as a woman gets older. Many doctors believe that the risk
increases for women age 35 and older. This risk keeps rising the older a woman gets.
Having a previous pregnancy in which the fetus had Down syndrome. Women
who have had a pregnancy with trisomy 21 Down syndrome have a 1-in-100 chance
of having another child with the condition.1

This type of Down syndrome is caused by only some cells producing 47 chromosomes.
Mosaicism affects up to 3 out of 100 people who have Down syndrome. 2 Risk factors for
mosaicism are similar to those for trisomy 21.
Translocation type is the only type of Down syndrome that may be passed through families,
but most of the time it happens randomly. A person with this type has 46 chromosomes, but
part of one chromosome breaks and then attaches to a different chromosome. Up to 5 out of
100 people with Down syndrome have the translocation type. 2
You may be a carrier of the translocation chromosome if you have:
A family history of Down syndrome.
Had other children with this type of Down syndrome.
If you are thinking about becoming pregnant and you're at risk for having a child with
Down syndrome, you may want to see a geneticist or genetic counselor. They can help you
understand your risk and work with you on genetic testing.

Down Syndrome - Exams and Tests

Testing during pregnancy
There are two types of tests for birth defects: screening and diagnostic. You may decide to
A screening test. This can show the chance that a baby has Down syndrome. It can't
tell you for sure that your baby has it. If the test result is "positive," it means that
your baby is more likely to have Down syndrome. So your doctor may want you to
have a diagnostic test to make sure. If the screening test result is "negative," it means
that your baby probably doesn't have Down syndrome. But it doesn't guarantee that
you will have a normal pregnancy or baby.
A diagnostic test. This test can show if a baby has Down syndrome.
The decision to have a test for birth defects is personal. You have to think about your age,
your chance of passing on a family disease, your need to know about any problems, and
what you might do after you have the test results. Your spiritual beliefs and other values
also may affect your decision.
To learn more about testing during pregnancy, see the topic Birth Defects Testing.
Diagnosis after birth
If Down syndrome was not diagnosed before your baby was born, doctors can often get a
clear sense of whether your child has Down syndrome by how your baby looks and by
doing a physical exam. But traits can be subtle in a newborn, depending on the type of
Down syndrome that he or she has.
To confirm a diagnosis, a newborn will have a blood sample taken for chromosomal
analysis, called a karyotype test.
Waiting for a formal diagnosis can be stressful. Try to focus on caring and bonding with
your newborn and getting the help you need. Your doctor or hospital may also be able to
refer you to local resources and support groups. For more information, see Treatment
Telling others
Another challenge parents may face is finding a way to tell family members and friends
about their child's condition. If you don't learn that your baby has Down syndrome until
after he or she is born, you will have little time to absorb the information before you need
to answer questions from excited family and friends who are eager for news.
The best approach may be to simply state the facts, such as, "Our baby was diagnosed with
Down syndrome." If you aren't ready to talk about your child's condition beyond that, say
so. You may feel able to tell only one or two people. If this is the case, consider asking them
to share the news with others. Of course, there is no right or wrong way to tell people.
Know that there are resources to help you.

Down Syndrome - Home Treatment

As a parent of a child with Down syndrome, you play an important role in helping your
child reach his or her full potential. You and your child will have challenges and
Babies and young children
Your child will likely take more time than other children to reach certain milestones. But his
or her achievements are just as significant and exciting to watch. Be patient, and encourage
your young child as he or she learns.
Walking and other motor development milestones. You can help your baby and
young child strengthen muscles through directed play. As your child gets older, you
can work with a physical therapist and your doctor to design an exercise program to
help your child maintain and increase muscle strength and physical skills.
Self-feeding. Help your child learn to eat independently by sitting down together at
meals. Use gradual steps to teach your child how to eat. Start with allowing your
child to eat with his or her fingers and offering thick liquids to drink.
Dressing. Teach your child how to dress himself or herself by taking extra time to
explain and practice.
Communicating. Simple measures, such as looking at your baby while speaking or
showing and naming objects, can help your baby learn to talk.
Grooming and hygiene. Help your child learn the importance of being clean and
looking his or her best. Establish a daily routine for bathing and getting ready. As
your child gets older, this will become increasingly important. Gradually add new
tasks to the routine, such as putting on deodorant.
Encourage your child to learn, socialize, and be physically active. For example, enroll your
child in classes with other children of the same age. Think of ways you can stimulate your
child's thinking skills without making tasks too difficult. But know that it is okay for your
child to be challenged and sometimes fail.
Enroll your young child (infant through age 3) in an early-intervention program. These
programs have staff who are trained to monitor and encourage your child's development.
Talk with a doctor about programs in your area.
School-age children
Keep encouraging your child to learn, socialize, and be physically active. Here are some tips:
Be involved with your child's education. Most children who have Down syndrome
can be included in a regular classroom. Your child may need an adapted curriculum
and may sometimes attend special classes.
Know that your child has a legal right to education. These laws also protect your
rights as a parent to be fully informed about or to challenge educational decisions
concerning your child.
Be active with your child. This will help your child feel better, whether or not he or
she has weight problems. To learn more, see:
o Physical Activity for Children and Teens.
o Helping Children With Disabilities Stay Active.
Adolescents and teens
Socially, teens who have Down syndrome have the same needs as everyone else. Most will
want to date, socialize, and form intimate relationships. You can help your child develop
healthy relationships by teaching appropriate social skills and behavior. Peer acceptance
and self-esteem are affected by how well your preteen or teen addresses these issues.
Here are some tips:
As your child enters puberty, teach proper grooming and hygiene.
Encourage your child to take part in school and community activities. Teens usually
graduate from high school, unless their disabilities are severe. Provide opportunities
for your child to form healthy friendships. This is critical for your child's happiness
and sense of belonging.
Be aware of the social difficulties and vulnerabilities your child faces. Start early to
prepare your child for healthy adult relationships and the possibility of an intimate
o Teach respect for his or her body and the bodies of others.
o Talk openly about your morals and beliefs.
o Provide sex education that is honest and presented in a way that your child
can understand. Talk about the reproductive and intimate aspects of sex.
o Discuss birth control methods and safer sex practices to prevent sexually
transmitted infections.
During your child's teen years, you may also want to start planning for your child's future
jobs and living arrangements. Many people who have Down syndrome live independently
as adults in group homes or apartments with support services. But most group homes and
community centers require a basic level of self-sufficiency, such as being able to eat, dress,
and bathe independently. Vocational training helps many young adults learn how to work in
many settings, such as stores, restaurants, and hotels.
Most adults who have Down syndrome function well in society. They often have regular
jobs, have friends and romantic relationships, and take part in community activities.
An adult with Down syndrome benefits from working outside the home and having social
activities. Having an active lifestyle with continued learning makes anyone, including a
person with Down syndrome, feel more vibrant and feel that his or her life is meaningful.
Adult day care may be an option. Or the Special Olympics and other activities that
emphasize exercise might be options. Encourage an adult's interests, such as in art or in
hobbies such as drawing.

Spina bifida is part of a group of birth defects called neural tube defects. The neural tube is
the embryonic structure that eventually develops into the baby's brain and spinal cord and
the tissues that enclose them.
Normally, the neural tube forms early in the pregnancy and closes by the 28th day after
conception. In babies with spina bifida, a portion of the neural tube fails to develop or close
properly, causing defects in the spinal cord and in the bones of the spine.
Spina bifida occurs in various forms of severity. When treatment for spina bifida is
necessary, it's done surgically, although such treatment doesn't always completely resolve
the problem.

Spina bifida occurs in three forms, each varying in severity.
Spina bifida occulta
This mildest form results in a small separation or gap in one or more of the bones
(vertebrae) of the spine. Because the spinal nerves usually aren't involved, most children
with this form of spina bifida have no signs or symptoms and experience no neurological
Visible indications of spina bifida occulta can sometimes be seen on the newborn's skin
above the spinal defect, including:
An abnormal tuft of hair
A collection of fat
A small dimple or birthmark
Many people who have spina bifida occulta don't even know it, unless the condition is
discovered during an X-ray or other imaging test done for unrelated reasons.
In this rare form, the protective membranes around the spinal cord (meninges) push out
through the opening in the vertebrae. Because the spinal cord develops normally, these
membranes can be removed by surgery with little or no damage to nerve pathways.
Also known as open spina bifida, myelomeningocele is the most severe form and the
form people usually mean when they use the term "spina bifida."
In myelomeningocele, the baby's spinal canal remains open along several vertebrae in the
lower or middle back. Because of this opening, both the membranes and the spinal cord
protrude at birth, forming a sac on the baby's back.
In some cases, skin covers the sac. Usually, however, tissues and nerves are exposed, making
the baby prone to life-threatening infections.
Neurological impairment is common, including:
Muscle weakness of the legs, sometimes involving paralysis
Bowel and bladder problems
Seizures, especially if the child requires a shunt
Orthopedic problems such as deformed feet, uneven hips and a curved spine

Doctors aren't certain what causes spina bifida. As with many other problems, it appears to
result from a combination of genetic and environmental risk factors, such as a family
history of neural tube defects and folic acid deficiency.

Risk factors
Although doctors and researchers don't know for sure why spina bifida occurs, they have
identified a few risk factors:
Race. Spina bifida is more common among whites and Hispanics.
Sex. Girls are affected more often.
Family history of neural tube defects. Couples who've had one child with a neural
tube defect have a slightly higher chance of having another baby with the same
defect. That risk increases if two previous children have been affected by the
In addition, a woman who was born with a neural tube defect, or who has a close relative
with one, has a greater chance of giving birth to a child with spina bifida. However, most
babies with spina bifida are born to parents with no known family history of the condition.
Folate deficiency. Folate (vitamin B-9) is important to the healthy development of a
baby. Folate is the natural form of vitamin B-9. The synthetic form, found in
supplements and fortified foods, is called folic acid. A folate deficiency increases the
risk of spina bifida and other neural tube defects.
Some medications. Anti-seizure medications, such as valproic acid (Depakene),
seem to cause neural tube defects when taken during pregnancy, perhaps because
they interfere with the body's ability to use folate and folic acid.
Diabetes. Women with diabetes who don't control their blood sugar well have a
higher risk of having a baby with spina bifida.
Obesity. Pre-pregnancy obesity is associated with an increased risk of neural tube
birth defects, including spina bifida.
Increased body temperature. Some evidence suggests that increased body
temperature (hyperthermia) in the early weeks of pregnancy may increase the risk
of spina bifida. Elevating your core body temperature, due to fever or the use of
saunas or hot tubs, has been associated with increased risk of spina bifida.
If you have known risk factors for spina bifida, talk with your doctor to determine if you
need a larger dose or prescription dose of folic acid, even before a pregnancy begins.
If you take medications, tell your doctor. Some medications can be adjusted to diminish the
potential risk of spina bifida, if plans are made ahead of time.

Spina bifida may cause no symptoms or only minor physical disabilities. Frequently, it leads
to severe physical and mental disabilities.
Factors that affect severity
The severity of the condition is affected by:
The size and location of the neural tube defect
Whether skin covers the affected area
Which spinal nerves come out of the affected area of the spinal cord
Range of complications
Complications may include:
Physical and neurological problems. This may include lack of normal bowel and
bladder control and partial or complete paralysis of the legs. Children and adults
with this form of spina bifida might need crutches, braces or wheelchairs to help
them get around, depending on the size of the opening in the spine and the care
received after birth.
Accumulation of fluid in the brain (hydrocephalus). Babies born with
myelomeningocele also commonly experience accumulation of fluid in the brain, a
condition known as hydrocephalus.
Most babies with myelomeningocele will need a ventricular shunt a surgically placed
tube that allows fluid in the brain to drain as needed into the abdomen. This tube might be
placed just after birth, during the surgery to close the sac on the lower back, or later as fluid
Infection in the tissues surrounding the brain (meningitis). Some babies with
myelomeningocele may develop meningitis, an infection in the tissues surrounding
the brain, which may cause brain injury and can be life-threatening.
Other complications. Additional problems may arise as children with spina bifida
get older. Children with myelomeningocele may develop learning disabilities,
including difficulty paying attention, problems with language and reading
comprehension, and trouble learning math.
Children with spina bifida may also experience latex allergies, skin problems, urinary tract
infections, gastrointestinal disorders and depression.

Tests and diagnosis

If you're pregnant, you'll be offered prenatal screening tests to check for spina bifida and
other birth defects. The tests aren't perfect. Most mothers who have positive blood tests
have normal babies.
Also, even if the results are negative, there's still a small chance that spina bifida is present.
Talk to your doctor about prenatal testing, its risks and how you might handle the results.
Blood tests
Your doctor will most likely check for spina bifida by first performing the following:
Maternal serum alpha-fetoprotein (MSAFP) test. A common test used to check
for myelomeningocele is the maternal serum alpha-fetoprotein (MSAFP) test. To
perform this test, your doctor draws a blood sample and sends it to a laboratory,
where it's tested for alpha-fetoprotein (AFP) a protein that's produced by the
It's normal for a small amount of AFP to cross the placenta and enter the mother's
bloodstream, but abnormally high levels of AFP suggest that the baby has a neural tube
defect, most commonly spina bifida or anencephaly, a condition characterized by an
underdeveloped brain and an incomplete skull.
Some spina bifida cases don't produce a high level of AFP. On the other hand, when a high
level of AFP is found, a neural tube defect is present only a small percentage of the time.
Varying levels of AFP can be caused by other factors including a miscalculation in fetal
age or multiple babies so your doctor may order a follow-up blood test for confirmation.
If the results are still high, you'll need further evaluation, including an ultrasound
Other blood tests. Your doctor may perform the MSAFP test with two or three other
blood tests, which may detect other hormones, such as human chorionic
gonadotropin (HCG), inhibin A and estriol.
Depending on the number of tests, the combination is called a triple screen or quadruple
screen (quad screen). These tests are commonly done with the MSAFP test, but their
objective is to screen for trisomy 21 (Down syndrome), not neural tube defects.

Many obstetricians rely on ultrasonography to screen for spina bifida. If blood tests indicate
high AFP levels, your doctor will suggest an ultrasound exam to help determine why. The
most common ultrasound exams bounce high-frequency sound waves off tissues in your
body to form black-and-white images on a video monitor.
The information these images provide can help establish whether there's more than one
baby and can help confirm gestational age, two factors that can affect AFP levels. An
advanced ultrasound can also detect signs of spina bifida, such as an open spine or
particular features in your baby's brain that indicate spina bifida.
In expert hands, ultrasound today is quite effective in detecting spina bifida and assessing
its severity. Ultrasound is safe for both mother and baby.
If a blood test shows high levels of AFP in your blood but the ultrasound is normal, your
doctor may offer amniocentesis. During amniocentesis, your doctor uses a needle to remove
a sample of fluid from the amniotic sac that surrounds the baby.
An analysis indicates the level of AFP present in the amniotic fluid. A small amount of AFP is
normally found in amniotic fluid.
However, when an open neural tube defect is present, the amniotic fluid contains an
elevated amount of AFP because the skin surrounding the baby's spine is gone and AFP
leaks into the amniotic sac.
Discuss the risks of this test, including a slight risk of loss of the pregnancy, with your

Treatments and drugs

Spina bifida treatment depends on the severity of the condition. Spina bifida occulta often
doesn't require treatment at all, but other types of spina bifida do.
Meningocele involves surgery to put the meninges back in place and close the opening in
the vertebrae. Myelomeningocele also requires surgery, usually within 24 to 48 hours after
Performing the surgery early can help minimize risk of infection that's associated with the
exposed nerves and may also help protect the spinal cord from additional trauma.
During the procedure, a neurosurgeon places the spinal cord and exposed tissue inside the
baby's body and covers them with muscle and skin. Sometimes a shunt to control
hydrocephalus in the baby's brain is placed during the operation on the spinal cord.
Prenatal surgery
In this procedure which takes place before the 26th week of pregnancy surgeons
expose a pregnant mother's uterus surgically, open the uterus and repair the baby's spinal
Proponents of fetal surgery believe that nerve function in babies with spina bifida seems to
worsen rapidly after birth, so it may be better to repair spina bifida defects while you're
still pregnant and the baby is still in your uterus (in utero).
So far, children who received the fetal surgery need fewer shunts and are less likely to need
crutches or other walking devices. But the operation poses risks to the mother and greatly
increases the risk of premature delivery.
Discuss with your doctor whether this procedure may be right for you.
Ongoing care
Treatment doesn't end with the initial surgery, though. In babies with myelomeningocele,
irreparable nerve damage has already occurred and ongoing care from a multidisciplinary
team of surgeons, physicians and therapists is usually needed. Babies with
myelomeningocele may need further operations for a variety of complications.
Paralysis and bladder and bowel problems often remain, and treatment for these conditions
typically begins soon after birth. Babies with myelomeningocele may also start exercises
that will prepare their legs for walking with braces or crutches when they're older.
Many have a tethered spinal cord a condition in which the spinal cord is bound to the
scar of the closure and is less able to properly grow in length as the child grows. This
progressive "tethering" can cause loss of muscle function to the legs, bowel or bladder.
Surgery can limit the degree of disability and may also restore some function.
Cesarean birth
Cesarean birth may be part of the treatment for spina bifida. Many babies with
myelomeningocele tend to be in a feet-first (breech) position. If your baby is in this position
or if your doctor has detected a large cyst, cesarean birth may be a safer way to deliver your

Folic acid, taken in supplement form starting at least one month before conception and
continuing through the first trimester of pregnancy, greatly reduces the risk of spina bifida
and other neural tube defects.
Get folic acid first
It's critical to have enough folic acid in your system by the early weeks of pregnancy to
prevent spina bifida. Because many women don't discover that they're pregnant until this
time, experts recommend that all women of childbearing age take a daily supplement of
400 micrograms (mcg) of folic acid.
Several foods, including bread, pasta, rice and breakfast cereals, are fortified with 400 mcg
of folic acid per serving. Folic acid may be listed on food packages as folate, which is the
natural form of folic acid found in food.

Planning pregnancy
If you're actively trying to conceive, most pregnancy experts believe supplementation of at
least 400 mcg of folic acid a day is the best approach for women planning pregnancy.
Your body doesn't absorb folate as easily as it absorbs synthetic folic acid, and most people
don't get the recommended amount of folate through diet alone, so vitamin supplements
are necessary to prevent spina bifida.
And, it's possible that folic acid will also help reduce the risk of other birth defects,
including cleft lip, cleft palate and some congenital heart defects.
It's also a good idea to eat a healthy diet, including foods rich in folate or enriched with folic
acid. This vitamin is present naturally in many foods, including:
Citrus fruits and juices
Egg yolks
Dark green vegetables, such as broccoli and spinach
When higher doses are needed
If you have spina bifida or if you've given birth to a child with spina bifida, you'll need extra
folic acid before you become pregnant.
If you're taking anti-seizure medications or you have diabetes, you may also benefit from a
higher dose of this B vitamin. In these cases, the recommended dose of folic acid may be up
to 4,000 mcg (4 mg) beginning one month prior to conception and during the first few
months of pregnancy.
However, check with your doctor before taking additional folic acid supplements.

Hydrocephalus is the buildup of fluid in the cavities (ventricles) deep within the brain. The
excess fluid increases the size of the ventricles and puts pressure on the brain.
Cerebrospinal fluid normally flows through the ventricles and bathes the brain and spinal
column. But the pressure of too much cerebrospinal fluid associated with hydrocephalus
can damage brain tissues and cause a large spectrum of impairments in brain function.
Although hydrocephalus can occur at any age, it's more common among infants and older
Surgical treatment for hydrocephalus can restore and maintain normal cerebrospinal fluid
levels in the brain. A variety of interventions are often required to manage symptoms or
functional impairments resulting from hydrocephalus.

The signs and symptoms of hydrocephalus vary generally by age of onset.
Common signs and symptoms of hydrocephalus in infants include:
Changes in the head
An unusually large head
A rapid increase in the size of the head
A bulging or tense soft spot (fontanel) on the top of the head
Physical symptoms
Poor feeding
Eyes fixed downward (sunsetting of the eyes)
Deficits in muscle tone and strength, responsiveness to touch, and expected growth
Toddlers and older children
Among toddlers and older children, signs and symptoms may include:
Physical symptoms
Blurred or double vision
Physical signs
Abnormal enlargement of a toddler's head
Difficulty remaining awake or waking up
Nausea or vomiting
Unstable balance
Poor coordination
Poor appetite
Behavioral and cognitive changes
Change in personality
Problems with attention
Decline in school performance
Delays or problems with previously acquired skills, such as walking or talking
Young and middle-aged adults
Common signs and symptoms in this age group include:
Difficulty in remaining awake or waking up
Loss of coordination or balance
Loss of bladder control or a frequent urge to urinate
Impaired vision
Decline in memory, concentration and other thinking skills that may affect job
Older adults
Among adults 60 years of age and older, the more common signs and symptoms of
hydrocephalus are:
Loss of bladder control or a frequent urge to urinate
Memory loss
Progressive loss of other thinking or reasoning skills
Difficulty walking, often described as a shuffling gait or the feeling of the feet being
Poor coordination or balance
Slower than normal movements in general
When to see a doctor
Seek emergency medical care for infants and toddlers experiencing these signs and
A high-pitched cry
Problems with sucking or feeding
Unexplained, recurrent vomiting
An unwillingness to bend or move the neck or head
Breathing difficulties
Seek prompt medical attention for other signs or symptoms in any age group.
Because more than one condition can result in the problems associated with
hydrocephalus, it's important to get a timely diagnosis and appropriate care.
Hydrocephalus is caused by an imbalance between how much cerebrospinal fluid is
produced and how much is absorbed into the bloodstream.
Cerebrospinal fluid is produced by tissues lining the ventricles of the brain. It flows through
the ventricles by way of interconnecting channels and eventually flows into spaces around
the brain and spinal column. It's absorbed primarily by blood vessels in tissues near the
base of the brain.
Cerebrospinal fluid plays an important role in brain function by:
Keeping the brain buoyant, allowing the relatively heavy brain to float within the
Cushioning the brain to prevent injury
Removing waste products of the brain's metabolism
Flowing back and forth between the brain cavity and spinal column to maintain a
constant pressure within the brain compensating for changes in blood pressure
in the brain
Excess cerebrospinal fluid in the ventricles occurs for one of the following reasons:
Obstruction. The most common problem is a partial obstruction of the normal flow
of cerebrospinal fluid, either from one ventricle to another or from the ventricles to
other spaces around the brain.
Poor absorption. Less common is a problem with the mechanisms that enable the
blood vessels to absorb cerebral spinal fluid. This is often related to inflammation of
brain tissues from disease or injury.
Overproduction. Rarely, the mechanisms for producing cerebrospinal fluid create
more than normal and more quickly than it can be absorbed.

Risk factors
In many cases, the exact event leading to hydrocephalus is unknown. However, a number of
developmental or medical problems can contribute to or trigger hydrocephalus.
Hydrocephalus present at birth (congenital) or shortly after birth may occur because of any
of the following:
Abnormal development of the central nervous system that can obstruct the flow of
cerebral spinal fluid
Bleeding within the ventricles, a possible complication of premature birth
Infection in the uterus during a pregnancy, such as rubella or syphilis, that can cause
inflammation in fetal brain tissues
Other contributing factors
Other factors that can contribute to hydrocephalus among any age group include:
Lesions or tumors of the brain or spinal cord
Central nervous system infections, such as bacterial meningitis or mumps
Bleeding in the brain from stroke or head injury
Other traumatic injury to the brain

Long-term complications of hydrocephalus can vary widely and are often difficult to
predict. If hydrocephalus has progressed by the time of birth, it may result in significant
intellectual, developmental and physical disabilities. Less severe cases, when treated
appropriately, may have few, if any, notable complications.
Adults who have experienced a significant decline in memory or other thinking skills
generally have poorer recoveries and persistent symptoms after treatment of
The severity of complications depends on:
Underlying medical or developmental problems
Severity of initial symptoms
Timeliness of diagnosis and treatment
Tests and diagnosis
A diagnosis of hydrocephalus is usually based on:
Your answers to the doctor's questions about signs and symptoms
A general physical
A neurological exam
Brain imaging tests
Neurological exam
The type of neurological exam will depend on a person's age. The neurologist may ask
questions and conduct relatively simple tests in the office to judge:
Muscle condition
Muscle strength
Muscle tone
Sensory status
Sense of touch
Vision and eye movement
Movement status
Psychiatric condition
Mental status
Brain imaging
Brain imaging tests can show enlargement of the ventricles caused by excess cerebrospinal
fluid. They may also be used to identify underlying causes of hydrocephalus or other
conditions contributing to the symptoms. Imaging tests may include:
Ultrasound. Ultrasound imaging, which uses high-frequency sound waves to
produce images, is often used for an initial assessment for infants because it's a
relatively simple, low-risk procedure. The ultrasound device is placed over the soft
spot (fontanel) on the top of a baby's head. Ultrasound may also detect
hydrocephalus prior to birth when the procedure is used during routine prenatal
Magnetic resonance imaging (MRI) uses radio waves and a magnetic field to
produce detailed 3-D or cross-sectional images of the brain. This test is painless, but
it is noisy and requires lying still. Some MRI scans can take up to an hour and require
mild sedation for children. However, some hospitals may use a quick version of MRI
that takes about five minutes and doesn't require sedation.
Computerized tomography (CT) scan is a specialized X-ray technology that can
produce cross-sectional views of the brain. Scanning is painless and takes about 20
minutes. This test also requires lying still, so a child usually receives a mild sedative.
CT scans for hydrocephalus are usually used only for emergency exams.

Treatments and drugs

One of two surgical treatments may be used to treat hydrocephalus.
The most common treatment for hydrocephalus is the surgical insertion of a drainage
system, called a shunt. It consists of a long, flexible tube with a valve that keeps fluid from
the brain flowing in the right direction and at the proper rate. One end of the tubing is
usually placed in one of the brain's ventricles. The tubing is then tunneled under the skin to
another part of the body where the excess cerebrospinal fluid can be more easily absorbed
such as the abdomen or a chamber in the heart.
People who have hydrocephalus usually need a shunt system for the rest of their lives, and
regular monitoring is required.
Endoscopic third ventriculostomy
Endoscopic third ventriculostomy is a surgical procedure that can be used for some people.
In the procedure, your surgeon uses a small video camera to have direct vision inside the
brain and makes a hole in the bottom of one of the ventricles or between the ventricles to
enable cerebrospinal fluid to flow out of the brain.
Complications of surgery
Both surgical procedures can result in complications. Shunt systems can stop draining
cerebrospinal fluid or poorly regulate drainage because of mechanical malfunctions,
blockage or infections. Complications of ventriculostomy include bleeding and infections.
Any failure requires prompt attention, surgical revisions or other interventions. Signs and
symptoms of problems may include:
Nausea or vomiting
Vision problems
Redness, pain or tenderness of the skin along the path of the shunt tube
Abdominal pain when the shunt valve is in the abdomen
Recurrence of any of the initial hydrocephalus symptoms
Other treatments
Some people with hydrocephalus, particularly children, may need additional treatment,
depending on the severity of long-term complications of hydrocephalus.
A care team for children may include a:
Pediatrician or physiatrist, who oversees the treatment plan and medical care
Pediatric neurologist, who specializes in the diagnosis and treatment of
neurological disorders in children
Occupational therapist, who specializes in therapy to develop everyday skills
Developmental therapist, who specializes in therapy to help your child develop
age-appropriate behaviors, social skills and interpersonal skills
Mental health provider, such as a psychologist or psychiatrist
Social worker, who assists the family with accessing services and planning for
transitions in care
Special education teacher, who addresses learning disabilities, determines
educational needs and identifies appropriate educational resources
Adults with more severe complications also may require the services of occupational
therapists, social workers, specialists in dementia care or other medical specialists.

Hydrocephalus is not a preventable condition. However, there are ways to reduce the risk of
If you're pregnant, get regular prenatal care. Following your doctor's
recommended schedule for checkups during pregnancy can reduce your risk of
premature labor, which places your baby at risk of hydrocephalus and other
Protect against infectious illness. Follow the recommended vaccination and
screening schedules for your age and sex. Preventing and promptly treating the
infections and other illnesses associated with hydrocephalus may reduce your risk.
To prevent head injury:
Use appropriate safety equipment. For babies and children, use a properly
installed, age- and size-appropriate child safety seat on all car trips. Make sure all
your baby equipment crib, stroller, swing, highchair meets all safety standards
and is properly adjusted for your baby's size and development. Children and adults
should wear helmets while riding bicycles, skateboards, motorcycles, snowmobiles
or all-terrain vehicles.
Always wear a seat belt in a motor vehicle. Small children should be secured in
child safety seats or booster seats. Depending on their size, older children may be
adequately restrained with seat belts.