Download Spina Bifida Causes Spina bifida develops during the

Spina Bifida
Causes
Spina bifida develops during the first month after conception – usually before a woman
even knows she is pregnant. Although scientists have not identified the precise cause of
this birth defect, they believe it results from a combination of environmental and genetic
factors.
Incidence
Approximately 40% of all Americans may have spina bifida occulta, but because they
experience little or no symptoms, very few of them ever know that they have it. The other
two types of spina bifida, meningocele and myelomeningocele, are known collectively as
“spina bifida manifesta,” and occur in approximately one out of every thousand births. Of
these infants born with “spina bifida manifesta,” about 4% have the meningocele form,
while about 96% have myelomeningocele form. It is the second most common birth
defect.
About the Disorder
Spina bifida develops during the time when the neural plate, a sheet of cells along the
back of the fetus, forms the neural tube. In fetuses with spina bifida, parts of the neural
plate fail to form a tube. Spina bifida occulta usually has no obvious symptoms and may
be noticed on routine x-rays. A defect in one or more of the vertebrae is present but there
is no damage to the spinal cord. The skin over the defect may be dimpled or pigments, or
may have hairy patches. Meningocele is when the meninges protrude through the bony
defect producing a sac filled with cerebrospinal fluid. There may be some damage to the
spinal cord. Myelomeningocele refers to the most severe form when the spinal cord,
nerve roots, or both protrude into the sac. Neurological deficits are usually present
causing paralysis of muscles in the legs and lower trunk area. Skin sensations may be
impaired or absent and bladder and bowel incontinence may be present.
The effects of myelomeningocele, the most serious form of spina bifida, may include
muscle weakness or paralysis below the area of the spine where the incomplete closure
(or cleft) occurs, loss of sensation (pain, temperature, pressure) below the cleft, and loss
of bowel and bladder control. In addition, fluid may build up and cause an accumulation
of fluid in the brain (a condition known as hydrocephalus). A large percentage (70%90%) of children born with myelomeningocele have hydrocephalus. Hydrocephalus is
controlled by a surgical procedure called “shunting,” which relieves the fluid buildup in
the brain. If a drain (shunt) is not implanted, the pressure buildup can cause brain
damage, seizures, or blindness. Hydrocephalus may occur without spina bifida, but the
two conditions often occur together.
The types and severity of a patient’s symptoms are determined by the particular spinal
nerves involved. All nerves below the defect usually are affected. Therefore, the higher
the spina bifida occurs on the back, the greater the amount of nerve damage and loss of
muscle function and sensation. If a child’s upper thoracic cord and nerves are affected,
for example, the lower limbs may be totally paralyzed and normal walking will be
impossible. But a child with a lesion at the low sacral nerve level will have relatively
mild paralysis and bladder and bowel problems.
Educational Considerations of Spina Bifida
Research has been completed about general learning problems of children with spina
bifida and hydrocephalus. The research shows that these students often have difficulty
with the following:
• Visual perception problems which may cause difficulty with spatial discrimination,
figure ground perception, and eye tracking
• Language difficulties in reasoning and comprehension, auditory decoding, and
auditory association
• Inappropriate and bizarre language usage
• Reading problems in comprehension and content
• Sensory integration problems including late or nonestablished dominance, hand
weakness, poor motor control, problems crossing midline, poor kinesthetic and tactile
feedback, tactile defensiveness, and postural insecurity
• Math difficulty, especially affecting math reasoning skills
• Distractibility and inattentiveness
• Organizational problems
• Poor handwriting skills
• School staff should recognize the need for frequent absences due to medical
consultation/procedures/surgeries
• School personnel should be aware of the necessary medications and their side effects
• School staff should be aware of the signs of shunt malfunction/infection
• Students with spina bifida may have abstract thinking difficulties. They need concrete
beginnings/endings, need to experience materials, and to be an active participant
• Development of independence and consistent bowel/bladder management plan (this
may include catheterization performed by school personnel or student him/herself)
• Often need involvement of OT/PT/DAPE
• Need change in positions to avoid development of pressure sores
• May need written work modifications/accommodations and may need handwriting
alternatives
• Allow extra time to process questions and come up with answers
• Organizational skills and auditory/visual processing should be monitored
• Speech Language Clinician may be involved to help with language development
Resources
National Information Center for Children with and Youth with Disabilities Fact Sheet
Number 12, 1994
Spina Bifida, Hope Through Research, National Institute of Neurological and
Communicative Disorders and Stroke, NIH Publication No. 86-309, January 1986
Juvenile Rheumatoid Arthritis
Definition
Juvenile Rheumatoid Arthritis is a connective tissue disorder characterized by chronic
joint inflammation, migratory swelling, stiffness, and pain, which may be aggravated by
overuse, weather changes, and emotional factors. Usually, this condition appears before
the age of 7 and, unlike the adult form, the duration of the juvenile form is less than 10
years in a large percentage of the cases and may be only a few months.
Causes
No one knows the cause of JRA, but we know that it involves abnormalities of the
immune system. The immune system defends our bodies against bacteria, viruses, and
other foreign substances. Some research suggests that in autoimmune diseases such as
JRA, one type of white blood cells called lymphocytes loses the ability to tell parts of
one’s body, such as cartilage, from harmful agents like bacteria or viruses. This results in
the release of chemicals that can damage the body’s own tissues, in a process called
inflammation. Heredity plays some part in the development of several forms of arthritis.
However, the inherited trait alone does not cause the illness. We think that this trait along
with some other unknown factors triggers the disease. It is unusual for more than one
child in a family to have arthritis.
Incidence
An estimated 200,000 infants, youngsters and teenagers in the U.S. have arthritis. Of
these, 75,000 have juvenile rheumatoid arthritis.
Types of JRA
There are three forms of juvenile rheumatoid arthritis:
• Polyarticular: In the polyarticular form, which is the most common, larger
joints of the body are involved. Knees, ankles, and wrists, and then the neck,
fingers, elbows, and shoulders are affected. Hip involvement occurs in some.
As the disease progresses, subluxation and dislocation may occur and
abnormal bony structures are evident on x-ray. This type affects five or more
joints. Girls get polyarticular arthritis more often than boys do.
• Systemic: The onset of the systemic form is accompanied by a pink skin rash,
a very high fever, and extreme fatigue. Often it resembles serious infections of
the body and may require hospitalization for testing. This type affects both the
joints and the internal organs. It is the least common form of JRA. Boys and
girls are equally likely to get this form. In some, the systemic symptoms of the
disease and the fever may go away completely, although the joint-related
symptoms of arthritis may remain.
• Pauciarticular: One distinguishing feature of the pauciarticular form is the
tendency for the iris of the eye and the lens muscle to become inflamed. This
condition is called “anterioruveitis” and “iridocyclitis.” If untreated, this
condition may result in blindness. In this form of JRA, four or fewer joints are
affected. Usually the large joints (knees, ankles or elbows) are affected. It also
often affects a particular joint on only one side of the body.
Educational Considerations of JRA
• Many children experience a period of stiffness upon getting up each day. For
some it may last only minutes and for others hours. Depending on the student’s
needs, the school may have to allow an altered school day or may just need to be
flexible about the student arriving late. If the student arrives late, someone should
be available to go over the missed work and/or give the student extra time to
catch up on any missed assignments.
• Some children may require homebound instruction due to the necessity for
bedrest during acute episodes.
• Fatigue should be avoided. The child may require frequent rest periods during the
day.
• All activities, which cause abnormal stresses on the joints, should be avoided and
adapted physical education programs are often indicated.
• Normal activities should be encouraged when medical reports indicate the
disease is not in an acute stage.
• Prolonged periods of sitting may cause stiffness and pain so the teacher should
allow the student to stand and move about unobtrusively every 30 minutes or so
(i.e. call on the student to perform some duty such as collecting quiz papers)
• If the student has difficulty walking, he should be allowed to leave class early
enough to get to his next class on time. The team should help make sure that the
student’s classes are in the same area of the school. Allow the student to use the
elevator.
• Carrying things may be difficult for the student. The team should arrange for the
student to have a locker on each floor. Provide an extra set of books for at home
to avoid carrying heavy books back and forth.
• The student may need extra time to complete projects and assignments. The
student should not be expected to take timed tests.
• The student may need to use a computer or other types of assistive devices.
Resources
Arthritis in Children, Arthritis Foundation
When Your Student Has Arthritis – A Guide for Teachers, Arthritis Foundation
Muscular Dystrophy
Causes
Each form of muscular dystrophy is caused by a defect in a gene. All forms are hereditary
conditions, with the genetic defect transmitted by one parent in some forms of the disease
and by both parents in other types. However, there are many cases of muscular dystrophy
in families with no known history of the disease. The basic defect in any hereditary
disorder resides in the patient’s genetic material. In muscular dystrophy, a protein
abnormality results from a defective gene. The abnormality could be the absence of an
important protein, not enough of it, too much of it, or a protein that doesn’t work
correctly. This protein abnormality causes the muscles to waste away.
Incidence
Many thousands of Americans suffer from muscular dystrophy. Almost 2/3 of these cases
are children. Symptoms may appear any time between birth and adolescence. However,
muscular dystrophy can strike anyone at any age. Some forms develop in the teens;
others in the twenties, or even middle age.
About the Disorder
There are four main types of muscular dystrophy: Duchenne, Facioscapulohumeral,
Limb-Girdle, and Myotonic.
Duchenne Muscular Dystrophy usually develops in boys between the ages of two and
six. Early signs are often overlooked. The child may have difficulty climbing stairs and
rising from sitting or lying positions. There is a tendency to fall frequently. Later, the
child may develop a waddling gait. Serum levels of the muscle enzyme CPK are elevated
in Duchenne Muscular Dystrophy even before clinical signs of the disease appear.
A distinctive characteristic of Duchenne Muscular Dystrophy is the seeming enlargement
of calf muscles, caused by the deposition of fat and connective tissue. Progression is
rapid with no remission and is marked by wasting of proximal muscles – particularly in
the pelvic girdle – followed by involvement of the pectoral muscles, and finally of all
muscle groups. In this, the most common and severe type of muscular dystrophy, few
patients survive their early 20’s. The hereditary pattern in Duchenne MD is of the
recessive X-linked type, in which the mother transmits the defective gene, almost
exclusively to male children. There is a 50% probability that any female offspring will be
a carrier of the defective gene.
Facioscapulo-Humeral Muscular Dystrophy usually occurs in early adolescence,
occasionally as late as the mid-20’s, and sometimes in infancy. There is marked
variability in the severity and onset of symptoms from patient to patient. Initial
involvement occurs in the muscles of the face and shoulder girdle. There is a resulting
lack of facial mobility (difficulty closing eyes and whistling, unlined face even in middle
age); difficulty in raising arms over the head, and a characteristic forward slope of the
shoulders. The progression is very slow as a rule, with plateaus of significant duration.
Average life span is rarely shortened, although patients may suffer considerable
disability. Trunk and leg muscles may become involved, and the person may be unable to
walk. The hereditary pattern is autosomal dominant. In this form of inheritance, a single
gene derived from one parent transmits a trait. The carrier of a dominant disease gene
usually suffers from the same disorder. There is a 50 % probability of incidence among
offspring – male or female.
Limb-Girdle Dystrophy occurs anywhere from the first to the third decade of life. It
begins in either the shoulder muscles or muscles of the lower trunk and upper legs. The
symptoms vary with part of the body affected. When the shoulders are affected, the
student may have difficulty raising arms and lifting objects, and have drooping shoulders.
If the legs and trunk are affected, the student may waddle, have frequent falls, and/or
have difficulty rising from the floor and climbing stairs. The progression of the disease
varies. If it begins in the shoulder muscles, it is generally slower. Sometimes the
progression is very rapid. The course is unpredictable, but most become severely disabled
and unable to walk in middle age. Life span is usually shortened. The hereditary pattern
is autosomal recessive. Unless both parents carry the defective gene, none of their
children will manifest the disease. When both parents carry the gene, each offspring has a
25% probability of being completely free of the hereditary defect. Sons and daughters are
equally at risk.
Myotonic Muscular Dystrophy, also known as Steinert’s disease, may occur at any age
including infancy, but is most frequent between 20 and 35. The first signs are weakness
of the fingers, hands, forearms, feet and lower legs. Facial muscle weakness (dropping
lids, jaw) may also be obvious early. There may be stiffness in the hands and feet,
especially after chill. The student may have difficulty relaxing her grip. The student may
also trip and fall frequently. The hereditary pattern is autosomal dominant; the defective
gene may be inherited from either side of the family. There is a 50% probability of
incidence among offspring.
Other types of muscular dystrophy include Becker Muscular Dystrophy, Congenital
Dystrophy, Distal Muscular Dystrophy, Opthalmoplegic Muscular Dystrophy and
Oculopharyngeal Dystrophy. Becker MD is similar to Duchenne but starts later in life
and is less severe. The life span may be normal. Congenital Dystrophy takes place during
the fetal period and the disease is already manifest at birth. The essential features include
hypotonia, muscle weakness, and contractures. Distal Muscular Dystrophy involves the
small muscles of the extremities, and is the rarest subgroup. Opthalmoplegic Muscular
Dystrophy usually shows in adulthood. Extraocular muscles are involved initially and the
muscles used in swallowing tend to become affected. Oculopharyngeal usually appears in
adulthood. It affects the eyes and throat. It progresses slowly but steadily.
Educational Considerations of Muscular Dystrophy
• Extra set of books at home
• Evacuation plan
• Rest periods if needed
• DAPE, OT, PT
• Assistive devices (computer, pencil grips, eating utensils, Hoyer lifts, etc.)
• Extra time for assignments
• Pupil support assistant to assist with ADL’s
Resources
Facts about Muscular Dystrophy, Muscular Dystrophy Association
Muscular Dystrophy, MDA
What Everyone Should Know about Muscular Dystrophy, MDA