Mosaicism
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
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.
SPINA BIFIDA
Definition
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.
Symptoms
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
problems.
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.
Meningocele
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.
Myelomeningocele
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
(scoliosis)
Causes
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
condition.
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.
Complications
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
accumulates.
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.
Ultrasound
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.
Amniocentesis
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
doctor.
Prevention
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:
Beans
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
Definition
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
adults.
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.
Symptoms
The signs and symptoms of hydrocephalus vary generally by age of onset.
Infants
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
Vomiting
Sleepiness
Irritability
Poor feeding
Seizures
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
Headache
Blurred or double vision
Physical signs
Abnormal enlargement of a toddler's head
Sleepiness
Difficulty remaining awake or waking up
Nausea or vomiting
Unstable balance
Poor coordination
Poor appetite
Seizures
Behavioral and cognitive changes
Irritability
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:
Headache
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
performance
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
stuck
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
symptoms:
A high-pitched cry
Problems with sucking or feeding
Unexplained, recurrent vomiting
An unwillingness to bend or move the neck or head
Breathing difficulties
Seizures
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.
Causes
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
skull
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.
Newborns
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
Complications
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
hydrocephalus.
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
Reflexes
Muscle strength
Muscle tone
Sensory status
Sense of touch
Vision and eye movement
Hearing
Movement status
Coordination
Balance
Psychiatric condition
Mental status
Mood
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
examinations.
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.
Prevention
Hydrocephalus is not a preventable condition. However, there are ways to reduce the risk of
hydrocephalus:
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
complications.
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.