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What does the name mean?

Many parents ask what the name means. Pierre Robin Syndrome was identified by a French physician during the early part of the 20th century and as it is usual in the medical profession when physician discovers a recognisable pattern of problems that it is named after them. It has also been known as Robin Syndrome, Pierre Anomalad, Robin Sequence, Robin Anomalad and Pierre Robin Complex. In the UK it is currently known as Pierre Robin Sequence but until recently was called Pierre Robin Syndrome.

There has been a big debate about the change from syndrome to sequence in recent years. From a parent's point of view the difference is best explained by considering the problems that have become evident because of the position of the jaw. As the jaw's growth was restricted (for reasons as yet unknown) this led to the tongue not having any room which forced it up into the roof of the mouth, which prevented the closure of the palate. This is a developmental problem that occurs very early on in the pregnancy. A syndrome normally describes a genetic defect that causes multiple problems, not just developmental problems such as the jaw in this case. Why Pierre Robin happens is still unclear but it is known to affect 1 in 14,500 babies born in the UK each year. Approximately 50% to 80% of these babies with have other associated conditions, the most common being Stickler Syndrome (see below).

What kind of Problems does it present?

The most immediate and serious problems for parents and professionals caring for babies born with Pierre Robin are feeding and breathing difficulties. The degree of difficulty varies from baby to baby. Some babies have no problems with breathing and only minor problems with feeding; most babies have problems that require them to be in hospital for a few weeks until a feeding pattern is established and any breathing difficulties eased or managed; a smaller group of babies have great difficult in one of both areas and these difficulties can persist for several months. All babies born with this condition need careful investigation by experienced professionals, to ensure that they are able to maintain an adequate intake of oxygen and should as a matter of routine have their oxygen level monitored. Parents need help and advice about the right feeding bottle and position for feeding which again should be done experienced professionals. How parents get this help and advice differs from hospital to hospital but as a rule one of the following should be available:

• Cleft Lip and Palate Team
• Specialist Health Visitor
• Speech and Language Therapist
• Feeding Clinic

 

Cleft Palate

The palate is the roof of the mouth, which runs from behind the top of the teeth to the nasal cavity. Babies born with Pierre Robin can have a cleft (gap) in the hard and/or soft palate or just a high arched palate without a gap. Babies with a gap often suffer with some milk coming down their nose during bottle feeding but this gets better as a feeding pattern is established; growth occurs and the palate is repaired. The age of the palate repair can be anytime between 6-19 months. If there is concern about breathing then it maybe delayed. The operation will require a short stay in hospital and is usually performed by a plastic surgeon.

Breathing

Breathing for some babies can be very difficult and a cause of great concern. This is due to the tongue which flops back at its base because of the position of the jaw. This can be most evident when the baby is placed on his/her back and during feeding times. Babies that have these problems may need extra help and sometimes a temporary airway such as a nasopharyngeal airway (nasal-prong) is used. This is a small tube placed down the nose that acts to keep the tongue out of the way and therefore ensures an adequate intake of oxygen. In a small group of babies the degree of difficulty maybe so severe that a nasal-prong is not sufficient and it becomes necessary to perform a tracheotomy. Babies with any breathing difficulties must be under the care, or at the very least the supervision, of specialist hospitals.

Hearing

It is important that hearing is tested regularly as children with a cleft palate can sometimes have problems with hearing. If you are under a Cleft Lip & Palate Team this will be done automatically in the clinic, if not then you need to ask to see and ENT consultant or an audiologist.

Sleeping

It is very difficult for a baby with Pierre Robin to lay on their back as this can cause them to obstruct their airway. The correct sleeping position has become an issue in light of the ‘back to sleep' campaign with regard to cot death. The exact position for a baby with Pierre Robin depends on the severity of the breathing difficulties and how they are being managed; most babies are nursed on their side. Advice should be sought from your hospital who will give advice taking all the factors involved into consideration.

Stickler Syndrome

Because some children with Pierre Robin have received a subsequent diagnosis of Stickler Syndrome eye checks should be carried out on a regular basis. Therefore, you need to ensure that an appointment is made with an opthalamogist for an eye examination. For more information visit the Sticker Support Group http://www.stickler.org.uk

The Future

Most children with Pierre Robin sequence grow up normally even if they had quite severe problems in the first year. It is important that your child is cared for in the long term, if possible, by an established Cleft Lip and Palate Team including a paediatrician. This arrangement is much better for parents and children because of the expertise such as a specialist team would have, and all of the relevant health professionals would be seen normally in one long visit as opposed to several visits to each individual specialist. If, however, this team approach is not available in your area then you will need to be seen by the following health professionals at some point: Otologist, Audiologist, Dietician, and a Specialist Health Visitor. You may need, as a parent, to ask to be seen by these specialists. Do not assume that you will automatically be referred. Also, with regard to Stickler Syndrome, an appointment to see an opthalamogist must be made for frequent eye checks. You need to be seen regularly especially during the first few years. It is important to arrange to see a paediatrician who can look after all aspects of care and who will be aler for additional problems which sometimes present , such as Sticklers Syndrome, and who would be able to refer you to various specialist, such as Clinical Geneticist, if appropriate.

Seeing all these professional can be quite stressful for both parents and children. To help you make sure that you get positive results during these visits try to make notes of points you want to discuss and if you do not understand what is being said then ask them to clarify exactly what they mean. Also, do not be afraid to let them know if you are worried about something, at the end of the day you know your child better than they do.

Important notes for parents

• Professional who have experience of the condition should undertake the care of babies born with Pierre Robin Sequence. Care should be carried out, or at the very least coordinated from, a specialist hospital, especially during the first few weeks.

• Parents need individual expert advice and help with regard to feeding, and with positioning for both feeding and sleeping. This advice and help can only come from specialist health professionals.

• Parents must be proactive and ensure that they are referred to all the relevant health professionals as listed.

• Don't forget that nay new baby is tiring and a baby with Pierre Robin certainly requires a lot of attention. It is important to take some time for yourself. Try to get a break, look to family members or organisations such as Family Link who offer volunteers who are especially trained to look after children with special needs. Ask what, if any, provision that your local council offers such as short break care