She seemed to
develop so normally. What happened?
RS results from a chain of events beginning with the MECP2 genetic mutation.
Mutations occur naturally in everyone all the time and most do not cause
problems. The MECP2 mutation results in a shortage or absence of MeCP2
protein needed to direct other genes. These downstream genes produce proteins
or factors which control the normal development of selected regions of
the brain responsible for sensory, emotional, motor and autonomic function.
Development appears to be normal in early infancy until the factors are
needed to be active or inactive, for further brain development. Without
these factors, selected regions of the brain remain developmentally immature.
This explains why the child appears to be developing normally in the first
months of life.
If it is a genetic, does this mean I may have another child with RS?
The chance of having more than one child with RS is very small, less
than one percent. This means that more than 99% of the time, the mutation
is sporadic, just occurs on its own and is not repeated in a family.
At what age does Rett syndrome begin?
The age when RS begins and the severity of different symptoms may vary.
The child with RS is usually born healthy and shows an early period of
apparently normal or near normal development until 6-18 months of life,
when there is a slowing down or stagnation of skills. A period of regression
then follows when she loses communication skills and purposeful use of
her hands. Soon, stereotyped hand movements, gait disturbances, and slowing
of the normal rate of head growth become apparent. Other problems may
include seizures and disorganized breathing patterns which occur when
she is awake. There may be a period of isolation or withdrawal when she
is irritable and cries inconsolably. Over time, motor problems may increase,
while other symptoms may decrease or improve.
What kind of handicaps will she have?
Apraxia (dyspraxia), the inability to program the body to perform motor
movements, is the most fundamental and severely handicapping aspect of
RS. It can interfere with every body movement, including eye gaze and
speech, making it difficult for the girl with RS to do what she wants
to do. Due to this apraxia and her inability to speak, it is very difficult
to make an accurate assessment of her intelligence. Most traditional testing
methods require her to use her hands and/or speech, which may be impossible
for the girl with RS. Her mobility may be delayed and she may have difficulty
crawling or walking.
Since she loses skills, is RS degenerative?
Rett syndrome is not a degenerative disorder, but it is a developmental
disorder. Barring illness or complications, survival into adulthood is
expected.
How often does RS occur?
RS is most often misdiagnosed as autism, cerebral palsy or non-specific
developmental delay. While many health professionals may not be familiar
with RS, it is a relatively frequent cause of delayed development in girls.
The prevalence rate in various countries is from 1:10,000 to 1:23,000
live female births, making it three times more common in females than
phenylketonuria (PKU), a congenital error of metabolism for which every
newborn in the USA is tested.
How is Rett syndrome diagnosed?
The diagnosis of RS is made on the basis of the presence of the MECP2
mutation (a blood test) and fulfilment of the diagnostic criteria. Most
mutations are sporadic, and occur only once in a family. There are more
than 100 mutations in the MECP2 gene which cause RS. Most of these are
found in eight hotspots in the coding region of the gene (part of the
gene which makes the MeCP2 protein). Mutations have been found in more
than 80% of girls who fulfil the diagnostic criteria for RS. For the remaining
20% who do not currently show a MECP2 mutation, yet do still fulfil the
diagnostic criteria, it is felt that their mutations are located in a
part of the very large MECP2 gene not yet screened. So, at this time,
it is possible to have RS with or without the MECP2 mutation. Because
researchers now understand that the MECP2 mutation also causes other disorders,
it is possible to have the MECP2 gene mutation and not have RS.
What disorders must be ruled out?
Other possible conditions which could look like RS must be ruled out.
They include Angelman syndrome (Happy Puppet Syndrome) and Prader-Willi
syndrome, metabolic disorders such as OCT deficiency, disorders of organic
acids and amino acids; storage diseases, mitochondrial disorders, and
Batten Disease. While there are no scientific tests for them, autism and
cerebral palsy are often misdiagnosed.
How does RS differ from autism?
The MECP2 gene mutation is found in RS and has also been revealed in
some cases of autism, so they are branches of the same tree. While RS
occurs primarily in girls, autism occurs much more frequently in boys.
In both conditions, there is loss of speech and emotional contact. However,
symptoms seen in RS and not in autism include deceleration of the rate
of head growth and loss of purposeful hand skills and mobility. While
hand flapping is seen frequently in autism as visual stimulation, the
wider range of compulsive purposeless hand stereotypes common to RS are
not seen in autism. The girl with RS almost always prefers people to objects,
but the opposite is seen in autism. Unlike those with autism, the RS girl
often enjoys affection. While girls with RS often have autistic tendencies
at an early age, these features decrease over time.
How is the RS diagnosis made?
Getting the MECP2 blood test is the first step. Your child's doctor
will look carefully at her early growth and development and will evaluate
her medical history and physical and neurological status. In making the
diagnosis, specialists rely on a RS Diagnostic Criteria Worksheet, which
has been developed by the world's foremost authorities in RS. Your daughter
may fall into one of three categories:
Classic RS: those who meet the diagnostic criteria guidelines;
Provisional RS: age 1-3, with some clinical evidence of RS, but not
enough to meet the diagnostic criteria;
Atypical RS: those who do not meet all of the diagnostic criteria for
classical RS. The diagnosis of a typical RS must include at least three
of the primary criteria and five of the supportive criteria. Atypical
cases account for about 15 percent of the total of diagnosed cases.
Types of atypical RS include:
Congenital Onset RS: developmental delay is noticed shortly after birth
and there is no early normal development; or seizures begin before the
regression period.
Late Onset RS: signs are delayed beyond the typical 18 month onset,
in some cases to 3 or 4 years.
Preserved Speech and Hand Skills RS: milder, incomplete symptoms are
seen, with age of onset at 3 to 4 years
Male RS: boys with RS may not conform to the same symptoms seen in girls.
Most of the very few boys with RS have a more debilitating condition than
girls, and thus are not yet recognized.
What are the diagnostic criteria for Rett syndrome?
How can I be sure my daughter has it?
Most parents know their daughters better than anyone. Often, they know
that Rett syndrome fits from the first description. Physicians use Diagnostic
Criteria Guidelines
Is Rett syndrome seen predominantly in one race?
No. A statewide population study in Texas has revealed that the incidence
of RS in the African-American and Hispanic population in the United States
is comparable to that in Caucasian Americans.
What are the stages of Rett syndrome?
Stage I
Early Onset Stage
Age: 6 months to 1.5 years
Duration: Months
Stage II
Rapid Destructive Stage
Age: 1 to 4 years
Duration: Weeks to Months
Stage III
Plateau Stage
Age: Preschool to school years
Duration: Years
Stage IV
Late Motor Deterioration Stage
Age: When stage III ceases, 5-25+ years
Duration: Up to decades
Do all girls move through the stages of Rett syndrome similarly?
No. The stages of Rett syndrome are simply provided to help understand
the natural history of the disorder. The course of RS is predetermined
according to her mutation and X-inactivation status, and varies from one
child to another, including the age when RS begins and the speed and severity
of symptoms. Therefore, two girls of the same age can appear quite different.
Can the severity be predicted?
Just as in any other disorder, there can be a wide range of disability
ranging from mild to severe. It is difficult to predict the intensity
of symptoms in any individual child. Many girls begin walking within the
normal range, while others show significant delay or inability to walk
independently. Some begin walking and lose this skill, while others continue
to walk throughout life. Still others do not walk until late childhood
or adolescence. The same range holds true for using her hands and other
skills she may acquire.
What will she be able to do?
Although the girl with RS will need help for most activities of daily
living, she can learn some independent skills. Most girls can learn to
use the toilet and many can learn to feed themselves by hand or with utensils
with some assistance. Some girls can learn to use augmentative devices
to communicate. Despite their difficulties, girls and women with RS can
continue to learn and enjoy family and friends well into middle age and
beyond. They experience a full range of emotions and show their engaging
personalities as they take part in social, educational and recreational
activities at home and in the community.
What drugs have been tried?
L-Dopa is a synthetic form of dopamine. It has been found to improve
rigidity during the motor deterioration stage (4), but otherwise failed
to provide improvement on a consistent basis.
Naltrexone (Revia) is an opiate antagonist, used to alleviate the drug
high in addicts. It was tried in RS due to the unusually high level of
naturally-occurring opium-like brain chemicals called endorphins in the
spinal fluid of girls with RS, and their diminished response to pain.
The study was limited to the dose of 1 mg/kg/day and did not show dramatic
results. However, independent studies have shown that use of naltrexone
in higher or lower doses may be beneficial in controlling irregular breathing
and seizures, and in alleviating screaming spells. This may be due to
the drug's sedative effects. One negative aspect of the study was that
performance on the Bayley Scales of Infant Development was significantly
worse during the administration of the drug compared to placebo, also
possibly due to its sedative effect. Another negative side effect is loss
of appetite.
Bromocriptine (Parlodel) is a drug which improves the functioning of
the dopamine system in the brain. One drug trial showed initial improvements
in communication, decreased agitation and reduced hand movements in the
first phase; however, when the drug was stopped symptoms reappeared, and
the reintroduction of the drug did not bring back the initial improvements.
The drug was found to be most effective in those girls who had milder
symptoms.
Tyrosine (dopamine and noradrenalin) and Tryptophan (serotonin) are
amino acids, used to boost neurotransmitter levels. The study indicated
no differences in clinical performance or EEG patterns.
L-Carnitine is a derivative of the essential amino acid lysine, and
is often found to be deficient in those who take anticonvulsants. A single
case report of one child indicated improvements in language and awareness.
However, the child reported was an atypical case of RS, and these results
have not been replicated. In another study of 35 girls, carnitine supplements
(100 mg/kg/day) did not lead to any major neurological improvements in
the group as a whole. However, approximately 75% of the families involved
in the study reported subtle, but important improvements to their quality
of life while on the drug, including increased alertness, increased mobility,
less daytime sleeping, increased energy, and improvement in constipation.
Some parents reported their daughter saying a word for the first time
in a number of years. L-carnitine has been found beneficial in a large
group of girls with RS to increase muscle mass. A beneficial side effect
is loose stools.
The Blue Bird Circle Rett Center at Baylor College of Medicine, Houston,
Texas and the Rett Center for Excellence at the University of Alabama
at Birmingham have begun a double-blind placebo-controlled treatment study
using betaine and folate. Any girl or woman who tests positive for the
MECP2 mutation is eligible to participate in this study.
A clinical drug trial using dextromethorphan (DM) has been initiated
at the Children's Center in Johns Hopkins Hospital. It has been shown
that receptors for the excitatory amino acids glutamate, in particular
the NMDA type, are increased in the brain of young girls with RS. This
neurotransmitter and its receptors, when in excess, cause harmful over-stimulation
of the nerve cells (neurons) in the brain, contributing in part to the
seizures, behavioral phenotype, and cognitive impairment, in RS. The study
will examine the effects of this neurotransmitter and its excessive receptors
using DM because of its identified ability to block NMDA receptor channels.
This drug is available for human consumption. Infants with respiratory
infections and cough, as well as non-ketotic hyperglycinemia are treated
with DM, and it has been well tolerated. The clinical trial will study
the benefits of DM vs. placebo on EEG, seizures, cognition, and motor
impairment seen in RS.
What is life expectancy?
Due to the rarity of RS, very little is known about long term prognosis
and life expectancy. Most of those who have been identified are under
18 years of age. It is often difficult to identify older girls and women
due to the frequent lack of complete infant and childhood developmental
records. However, studies have determined that a girl with RS has a 95%
chance of surviving to age 20-25 years. This compares to a 98% survival
probability for the general U.S. female population. Between the ages of
25-40, the survival rate drops to 69% in RS, compared to 97% in the general
U.S. female population. The average life expectancy of a girl given the
diagnosis of RS may exceed 47 years. While there are a few women in their
40's and 50's who have RS, there have been too few women studied to make
reliable estimates beyond age 40. While these statistics show that life
expectancy is less in RS, it is not nearly as low as other similar neurological
disorders.
What are the causes of death?
It is important to note that only 7% of cases reported to the IRSA have
resulted in death. This means that 93% of those diagnosed are still living.
The most frequently reported causes of death (one-quarter of deaths) are
variations of sudden, unexplained death with no apparent underlying cause
such as an acute injury or infection. The factors most strongly associated
with an increased risk of sudden unexplained death in RS are uncontrolled
seizures, swallowing difficulties and lack of mobility. Neither physical
or occupational therapy, nutritional status or living arrangements made
a difference in the incidence of sudden unexplained death. Ongoing studies
will help predict which girls are at greatest risk and which girls might
benefit most from new medical or educational interventions. Other deaths
have resulted from pneumonia. The factors most strongly associated with
an increased risk of death by pneumonia are compromised lung function
due to scoliosis and difficulty swallowing. Other causes of death include
malnutrition, intestinal perforation or twisted bowel, as well as accidents
and illness.
When she dies, what can we do to help find answers?
Although she may be at higher risk for life-threatening events such
as pneumonia, choking and seizures, it is very likely that your daughter
will live a long life. However, we are all at risk for accidents of many
types and illnesses that are unexpected. A time will come when we will
all die. Researchers are ready to listen, to learn, and to share. You
can participate in research studies that will help us understand RS.
What has research taught us about RS?
Studies have revealed that although the brain is 30% smaller than normal,
there are no obvious malformations, gross abnormalities or signs of infection.
There is increased neuronal cell packing density. That is, cells should
be further apart, but in RS they are very close together because cell-to-cell
connections are not well-developed along the route. Neurons are reduced
in size and there is reduced branching, which interferes with functions
such as thinking, doing, and feeling. The number of synapses (brain-cell
to brain-cell connections) is about half the normal number. Abnormalities
in multiple areas of the brain may account for the following clinical
symptoms:
Frontal lobe: Cerebral blood flow appears reduced, particularly in frontal
brain regions. This looks like what might be seen in a 7 week-old child.
This area is much more involved than other brain parts. It is necessary
for mood and emotion.
Caudate: much smaller than normal; involved in cognition, awareness
and behavior
Putamen: no anatomical change; necessary for movement
Temporal lobe (limbic system): no anatomical change; needed for memory,
learning, emotion, behavior.
Cerebellum: reduction in some cell populations; needed for equilibrium
and balance.
Hippocampus: no anatomical change; necessary for information processing.
Substantia Nigra: marked reduction in the pigment, melanin, and degeneration
of cells; necessary for movement and critical thinking
Medulla (Brain stem): strong evidence of brain stem immaturity, leading
to problems with the autonomic nervous system, such as sleep, salivation,
breathing, heart rate, swallowing, bowel motility, blood circulation in
hands and feet, and reduced sensitivity to pain.
Neurotransmitters: reduced. These include:
Dopamine - necessary for movement and critical thinking,
Acetylcholine - necessary for memory, cognition, movement control, and
Glutamate - necessary for brain plasticity, important in seizures and
cell death.
What has research found?
Rett Syndrome was previously described as a neurodegenerative disorder,
with very poor prognosis and little potential for learning. Scientific
studies have now identified Rett Syndrome as a disorder of developmental
arrest, which begins shortly before or after birth at a critical time
of brain and synapse formation.
How do we know that RS is a condition of developmental arrest?
Supportive Clinical Evidence
Early onset
Normal head size at birth
Low muscle tone
Weak cry and poor suck
Abnormal 4th toe (short)
Improved learning and gaining new skills
Supportive Neurobiological Evidence
Small brain (12-33% reduction)
No malformations, storage, demyelinization, infection or gliosis
Dendritic arborizations, cell differentiation and neuronal growth affected
Small neurons with increased neuronal packing, migration not affected
Thinning of hippocampus
Significant involvement of caudate nucleus
Decreased melanin (pigment) in substantia nigra
Lack of mature olfactory (smell) neurons
Supportive Immunochemical Evidence
Early cholinergic deficits result in dendritic differentiation
MAP 2 decreased or absent in inner layer of cortex
These studies reverse the previous hypothesis of brain degeneration,
opening doors to educational programs and therapies that will help. Studies
have raised speculation that the primary conduction abnormality may be
influenced by neurotrophic (growth) factors responsible for maturation
of the heart and central nervous system. It is felt that these same neurotrophic
factors may drive changes in the intestinal tract. These studies pave
the way for treatments that will ultimately lead to a better way of life
for girls with rett syndrome and a method to prevent sudden, unexplained
deaths.
What are the research findings in RS?
Autonomic Findings
Agitation
Dyspraxia
Slow responsiveness
Poor sensory-motor integration
Disorganized breathing
Vasomotor changes (blue hands and feet)
Vacant spells
Constipation 90%
Abdominal distention (bloating) 50%
Biochemical Findings
Transient elevation of plasma ammonia
Elevated levels of beta-endorphins
Decreasing levels of dopamine & norepinephrine with age in cerebrespinal
fluid (CSF)
Transient elevation of lactic acid & aline in plasma cerebrespinal
fluid (CSF)
Cardiovascular Findings
Sudden unexplained death, 25% of all deaths (reported deaths 7% of total
population)
Immaturity of the atrio-ventricular conduction system (heart)
Nutritional Findings
Growth failure has many causes, but has a strong basis in nutritional
deficit.
Progressive weight and height failure unless aggressive nutritional rehabilitation
is undertaken.
Repetitive involuntary motor movements are not associated with increased
energy expenditure.
Sleeping metabolic rates are low and are consistent with features of malnutrition;
these findings can be reversed with nutritional support
Deficits in lean body mass persist despite aggressive refeeding regimens.
Deficits in lean body mass may be associated with increased rates of amino
acid oxidation and urea recycling.
Preliminary data suggest that the intestinal absorption of calcium and
vitamin D status are normal in RS, despite the presence of reduced bone
mineral density.
Oropharyngeal dysfunction and gastroesophageal dysmotility are found in
100% and 69% of Rett syndrome girls, respectively.
Abnormalities of oropharyngeal dysfunction include poor tongue mobility,
reduced oropharyngeal clearance, and laryngeal penetration of liquid &
solid food during swallowing.
Esophageal dysmotility, including abnormal wave patterns, delayed emptying,
atony, gastroesophageal reflux; gastric dysmotility, including diminished
gastric peristalsis or atony.
Neurophysiological Findings
Seizures are reportedly a common problem
Prolonged video/EEG/polygraphic studies confirm that the occurrence
of epileptic seizures is overestimated in Rett syndrome. Many events were
frequently reported as typical seizures but were not associated with EEG
severe discharge; these events include twitching, head turning, staring,
laughing, pupil dilatation, breath holding, and hyperventilation. Actual
seizures may be under recognized.
No one characteristic seizure type has been identified in Rett syndrome;
both focal and generalized electrographic seizures are recorded. Video/EEG
monitoring may be necessary to provide definitive information regarding
the need for anticonvulsant therapy.
Neuropathological Findings
Morphologic (anatomical) features are unique, with only decreased brain
weight being consistently present. The brain is preferentially involved
in this altered growth; other organ weights are appropriate for the individual's
height.
No consistent evidence of a degenerative, inflammatory or ischemic process.
No evidence of a progressive change in brain morphology over time. MRI
and EEG studies support this observation.
Best hypothesis to fit the fact that there is no recognizable disease
process is that RS seems to be the result of a maturational arrest of
brain development. Golgi studies suggest that arrested brain development
affects dendritic size in selected brain regions, namely the frontal,
motor, and limbic regions. This change is not seen in Trisomy 21 (Down
Syndrome.)
Alterations in numerous neurotransmitters have been observed, but there
does not yet appear to be consistent data suggesting that the primary
defect is in any of them.
Is mitochondrial disease a secondary effect in RS?
Morphologic research is directed towards identifying possible deficiencies
in neurotrophic factors which could initiate the changes which appear
to be an arrest of brain development.
Epidemiology And Survival
The prevalence of Rett syndrome is 1 per 22,800 (0.44/10000) females
aged 2-18 years of age as determined in the Texas Rett Syndrome Registry.
Rett syndrome has been reported in all races and ethnic groups.
Rett individuals have an estimated 70% survival at age 35 years; this
contrasts sharply with an estimated 27% survival at 35 years for severely
retarded individuals.
The majority of deaths in Rett syndrome are either sudden and unexpected
or secondary to pneumonia.
This information is just a small part of the 320 page text,
The Rett Syndrome Handbook
What happens when she hyperventilates?
Deep breathing expels more carbon dioxide from the body than usual,
so her hyperventilation causes her carbon dioxide level to fall. Carbon
dioxide is one of the body’s normal waste products carried in the
blood. Its purpose is to maintain the acid/alkali balance so that cells
can function normally. When her carbon dioxide level falls, cells cannot
function normally. Hyperventilation may cause her to feel dizzy and her
fingers to tingle.
What happens when she holds her breath?
When she holds her breath, her oxygen level in the bloodstream falls.
This may cause her to feel faint.
Are the abnormal breathing episodes or tremors related to seizures?
The abnormal breathing episodes can resemble epileptic seizures, but
they are not. Sometimes, what is thought to be a seizure is not, and some
seizures may fail to be recognized when she is asleep or even awake. Vacant
spells are brief interruptions of awareness that may resemble seizures
but are not.
Will she always breathe this way?
For the majority of girls, irregular breathing patterns become less
noticeable as they get older. The younger girl with RS appears to have
more hyperventilation while the older girl has more of a type of breathing
known as Valsalva’s maneuver.
What should we do about her irregular breathing?
Although episodes of breath holding produce great anxiety for parents
to watch, they are always followed by regular breathing. Observing the
irregular breathing can cause great concern, but experts in RS recommend
a low key approach, taking comfort in the fact that girls do become accustomed
to the irregular breathing and regular breathing will soon return. While
it may seem like forever, it is important to stay calm and in control.
There is a lot of research at present directed at answering these questions.
How can breathing be so abnormal when she is awake and normal when she
sleeps?
In Rett syndrome, irregular breathing occurs only when she is awake
and does not usually occur during sleep. When she is awake, the periods
of abnormal breathing result from probable immaturity of neurons regulating
breathing mechanisms. During periods of sleep, the changes in body function
allow us to breathe regularly and continuously. When abnormal breathing
is seen in some girls with RS during sleep, it is of the obstructive type,
usually from enlarged tonsils. Airway obstruction may be caused by mechanical
problems in the breathing passages. Mouth breathing, snoring and frequent
ear infections may be signals that your daughter has a problem which should
be evaluated by an ear, nose, and throat specialist.
Are the breathing problems dangerous to her health?
They can be alarming to watch, and may make her somewhat uncomfortable,
but they are not felt to cause permanent damage. It is not known why the
normal breathing during sleep brings out EEG abnormalities, while abnormal
breathing during wakefulness causes the EEG to normalize to what is often
seen in RS. Cessation of breathing during sleep is not typically seen
in RS. However, if your child stops breathing for short periods of time
while asleep, you should talk with her physician. She may need testing
to rule out airway obstruction. This is a separate problem from RS, for
which there is treatment.
How can I tell if she is swallowing air?
Air swallowing can be difficult to detect. Air can be swallowed inadvertently
in significant amounts each time she eats. It can also occur throughout
the day in small amounts. Sometimes it is easy to hear air as it is being
swallowed. If her upper abdomen is distended shortly after she eats it
could be that she is swallowing air. Here are some signs and symptoms
associated with air swallowing:
-
Audible swallowing at any time, including sleep
-
Severe dysfunction of swallowing with air swallowing apparent during
eating or drinking
-
Abdominal distention, usually following feedings or episodes of
hyperventilation and breath holding
-
Frequent burping (may be beneficial)
-
Large amounts of gas passed through the rectum
If a large amount of air stays temporarily in the stomach, it will
lead to sudden distention of the upper part of the abdomen. The stomach
stretches, creating significant tension. If the girl with RS is unable
to burp or pass gas, the bowel wall may become thin over time. This is
especially true in individuals who have a poor nutritional status.
Extreme distention of the wall of the stomach may lead to rupture.
Several cases of gastric rupture have been reported in girls with RS.
Once the stomach or any part of the intestine is torn, this will lead
to peritonitis, an acute inflammation and infection of the abdominal cavity.
Without immediate attention, peritonitis may lead to death. However, severe
problems are infrequent, even though gastrointestinal problems are common
in RS.
If air is passed into the intestine adequately, gastric distention will
be less of a problem. But it can accumulate in the mid-intestine, causing
distention of the abdomen and uncomfortable cramps. Constipation and medications
that slow down the passage of stool can worsen abdominal cramps.
If you suspect that she is swallowing air, there are a few things you
can do. Decrease the length of mealtimes if it appears she is swallowing
air while eating. Minimize stress and discomfort. Sit her in an upright
position after she eats to help her burp and decrease the amount of gas
in the stomach that is passed into the bowel. Keep on top of constipation
so that gas does not accumulate in the mid intestine. In some situations,
even the frequent use of enemas (not routinely recommended) may be preferred
to severe episodes of abdominal distention.
If these measures are not adequate and her abdominal distention is severe,
you may need to ask the advice of her physician on more aggressive methods.
This might include the placement of a tube through her nose into the stomach
(nasogastric tube) or the placement of a tube through the abdominal wall
into the stomach (gastrostomy button). This will help to decompress the
bowel and allow the gas to flow out. It will prevent gas from advancing
into the intestine. However, once the air is beyond the stomach, the bowel
cannot be decompressed with any of these tubes. Some surgical interventions
to prevent reflux, such as the Nissen fundoplication, in which the opening
from the esophagus to the stomach is closed, may help in GE reflux, preventing
heartburn or intermittent vomiting. At the same time, they can also increase
the chances of a complication from air swallowing, since she is now unable
to burp to get rid of gas.
The risks and benefits of such surgery should be weighed carefully in
each patient prior to making this decision. In rare situations, the placement
of a colostomy (opening the bowel into the abdominal wall) may help in
allowing adequate flow of intestinal contents and decrease the complications
from inadequate passage of stool.
Early detection as well as consultation with a gastroenterologist are
extremely important to avoid progression of the problem and to manage
it as early as possible, thus preventing more severe complications.
Should she have an electrocardiogram (ECG)?
As your daughter enters adolescence, you may wish to have an ECG performed.
What can be done about heart irregularities?
If irregularities are noted on the electrocardiogram, a cardiologist
may be consulted. Nonspecific ECG changes probably do not warrant medications.
For more information, visit the IRSA
website.
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