PSN Issue
Pierre Robin Sequence
What is Pierre Robin
Sequence?
Pierre Robin Sequence
(PRS) is a birth defect named for the French Doctor, Dr. Pierre Robin
(pronounced ro-BAN), who first defined the disorder in 1923. It is called a “sequence” since most
doctors feel that PRS is the result of a sequence of events which happen to the
baby early in the pregnancy. First
the lower jaw does not grow normally.
Then the tongue develops in an abnormal position. The tongue placement prevents the roof
of the mouth (palate) from closing.
So babies are diagnosed with PRS when they have these three signs:
1. a small jaw (micrognathia) and, in
many cases, a very receding chin (retrognathia),
2. an abnormal attachment of the tongue
(glossoptosis) in the back of the throat which makes the air passage through
the back of the throat very narrow and leads to breathing problems
3. a cleft palate (a few babies with
PRS babies do not have this)
How is Pierre Robin
Sequence Diagnosed?
There is no special
test to diagnose PRS. Some babies
are diagnosed during fetal ultrasounds when the small jaw and the cleft palate
are seen. After birth, the
diagnosis is made based on the baby‘s physical exam and the observed feeding
and breathing problems. There are
tests that may be done to determine the severity of the defect such as x-ray or
fiber-optic swallowing studies.
The baby’s oxygen levels may be constantly monitored to determine if the
levels fall during sleep (sleep apnea), while eating or when in certain
positions.
PRS may be the only
birth defect in a baby, but can be part of a syndrome. There are more than 30
syndromes that can include PRS. Stickler Syndrome and Velo-cardio-facial
Syndrome (VCFS or deletion 22q) are the two most commonly associated
syndromes. A geneticist will be
consulted when there are other unusual findings that are not found in PRS alone
so that genetic testing can be done. Babies with isolated PRS (no associated
syndromes) usually have normal motor and learning skills after their breathing
and feeding issues are corrected.
How is Pierre Robin
Sequence treated?
Because of the
specialized care needed by babies with Pierre Robin Sequence, their care should
be coordinated by a Craniofacial Team. This webpage explains about these teams: http://www.cleftline.org/publications/choosing_team.
Not only will the Craniofacial
Team have the most experience dealing with PRS, but it will have the wide range
of experts needed to treat the problems that arise from birth until adulthood.
Initial treatments are
aimed at helping the baby breathe and eat. Airway problems in PRS can range from mild to severe. Treatments may include some of the
following:
1. Positioning the baby on his belly. This can help the tongue fall forward
and make it easier to breathe.
2. A small tube (nasopharyngeal tube) can
be placed through the nose and down into the back of the throat behind the
tongue to keep the breathing passage open.
3. Surgery to keep the tongue pulled
forward (either a tongue-lip adhesion or glossopexy) can keep the air passage
open until the jaw grows.
4. Surgery to cut the lower jaw and
move it slowly forward thus moving the tongue forward (mandibular distraction
procedure)
5. Tracheostomy, when a curved tube is
inserted through the front of the neck directly into the baby’s windpipe
(trachea) in surgery. This is done when there is no other way to insure that the
baby will get enough oxygen. This
can be removed when the child’s jaw grows enough to keep the normal airway
open. See this website for a diagram. http://www.phoenixchildrens.com/emily-center/child-health-topics/handouts/Airway-with-Trach-829.pdf
Feeding problems will often
improve as breathing becomes easier.
Because of the anatomy of the baby’s mouth, breastfeeding is usually not
an option but mothers are encouraged to pump their breasts. Then they can bottle
feed using their breast milk so the babies get the benefits of breast milk. These babies will need to use
specialized cleft palate nipples to make bottle-feeding successful.
If the baby isn’t
gaining weight with bottle feeding (or is choking and getting small amounts of
liquid into the windpipe), a small tube (called a nasogastric tube) can be
placed through the nose and down into the stomach. The breast milk or formula is put through this tube. If tube
feeding is going to be needed for months, sometimes the baby is given a
gastrostomy tube or G- button. This is a surgically inserted tube placed directly into the stomach
through the baby’s skin and stomach wall.
It is often safer and more comfortable for the baby than the nasogastric
tube. It is removed when it is no longer needed.
Babies with PRS may go
home with equipment such as a home apnea monitor, an oximeter, oxygen, a feeding
pump, or suction equipment. Some
babies with PRS may qualify for home nursing care services.
Surgery to repair the
cleft in the palate is usually done after 9 months of age. The baby will be hospitalized for
several days and, in some hospitals, may stay in the Intensive Care Unit
overnight to provide special monitoring of their breathing. You can find
parent-friendly information on cleft palate repair at http://www.pierrerobin.org/cleft-palate-repair.htm
Children with PRS have
frequent ear infections so they need to be followed by the Ear, Nose and Throat
specialist (Otolaryngologist) on the Craniofacial Team. Hearing evaluations should be done
yearly when they are young. Speech
therapy is usually needed.
Craniofacial teams
include specialized dentists who will follow children with PRS to be sure that
the upper and lower teeth line up properly. Orthodontic procedures may be needed as the child advances
through the school years.
Some babies/toddlers
with PRS will qualify for early intervention services provided by the
State. The Social Worker on the
Craniofacial Team can arrange for these services as well as help with financial/insurance
questions that may arise. The Team
Psychologist can assist with any behavior or psychological problems that can
occur in a family with a special needs child.
Raising a child that
is born with a birth defect or syndrome can be overwhelming for a family. There are national and (in some areas)
local groups that can provide support and information for families of children
with PRS or with Cleft Palates. The Robin Network http://www.pierrerobin.org/support.htm
is a source of family -friendly information. On their online message board parents post questions and get
responses from other parents who have children with PRS. This parent-run organization (no
medical board) has been active for 10 years and can be emailed at info@pierrerobin.org. The Cleft Palate Foundation http://www.cleftline.org
provides information written by health professionals on both Pierre Robin
Sequence as well as Cleft Palate. The
Cleft Palate Foundation (CPF) offers the toll-free helpline 1-800-24-CLEFT. CPF was started 36 years ago and is
part of the American Cleft Palate-Craniofacial Association, the organization
for Health Professionals who treat Cleft Lip and Palate and other Craniofacial
Conditions.
Some hospitals and communities have specialized
libraries called consumer health libraries where patients and families can get
information about their child’s diagnosis and its treatment(s). The Emily Center, located at Phoenix Children’s
Hospital, is the oldest and most comprehensive pediatric consumer health
library in the Southwestern United States. Staffed by Pediatric Nurses and bilingual library personnel,
the library provides families throughout Arizona with written and audiovisual
materials in English or Spanish about child health, injury and illness. People living in Arizona who are involved with the care of a
child can call or email the Center and explain their questions and concerns. The Emily Center staff will prepare an
individualized packet of information for them. There is no charge for this service. To read more about The
Emily Center or to find out how to contact them, go to their website at www.theemilycenter.org Families who do not live in Arizona can get a list of
consumer health libraries in their state by going to the website of MedlinePlus
at http://www.nlm.nih.gov/medlineplus/libraries.html
Disclaimer: All information on this site is of a general nature and is furnished for knowledge and understanding only.