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:
- a small jaw (micrognathia) and, in many cases, a very receding chin (retrognathia),
- 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
- 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: https://acpacares.org/selecting-a-team/ [1]. 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:
- Positioning the baby on his belly. This can help the tongue fall forward and make it easier to breathe.
- 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.
- Surgery to keep the tongue pulled forward (either a tongue-lip adhesion or glossopexy) can keep the air passage open until the jaw grows.
- Surgery to cut the lower jaw and move it slowly forward thus moving the tongue forward (mandibular distraction procedure)
- 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.
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.
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 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 [email protected]. The Cleft Palate Foundation https://acpacares.org/ [2] 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.
[3]
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 [4] 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 https://www.nnlm.gov/membership/directory [5]
Related: List and Explanation of Disabilities for Disability Awareness Month [6]
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- 8 Ways to be a Great Advocate For Your Family Member With Special Needs [8]
- Coping with the Life You Never Imagined [9]
- How Do You Talk to Your Child About Their Diagnosis? [10]
- Developing Your Own Network [11]
- Surgery Survival [12]
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