questionWhat is Pierre Robin Sequence?

answerThank you for your question. Let me just start by saying that although I do have many years of experience working as a certified speech-language pathologist with diverse populations in diverse settings, I have never worked with an individual with Pierre Robin Sequence (or Complex). Therefore, my reply is based on research and not experience. Since this question is rather general, I’ll attempt to simply describe this condition and the role of Speech-Language Pathologists (SLP’s) in working with children with this diagnosis.

Pierre Robin Sequence or Complex (pronounced “Roban”) is the name given to a birth condition that involves the lower jaw being either small in size (micrognathia) or set back from the upper jaw (retrognathia). As a result, the tongue tends to be displaced back towards the throat, where it can fall back and obstruct the airway (glossoptosis). Most infants born with this condition, but not all, will also have a cleft palate. The basic cause appears to be the failure of the lower jaw to develop normally before birth. At about 7-10 weeks into a pregnancy, the lower jaw grows rapidly, allowing the tongue to descend from between the two halves of the palate. If, for some reason, the lower jaw does not grow properly, the tongue can prevent the palate from closing, resulting in a cleft palate. The small or displaced lower jaw also causes the tongue to be positioned at the back of the mouth, possibly causing breathing difficulty at birth. This “sequencing” of events is the reason why the condition has been classified as a deformation sequence. Pierre Robin Sequence/Complex is rather uncommon, and like most birth defects, varies in severity from child to child. Some children may have more problems than others. Problems in breathing and feeding/swallowing (or dysphagia) in early infancy are the most common. Parents need to know how to position the infant in order to minimize problems (i.e., not placing the infant on his or her back). For severely affected children, positioning alone may not be sufficient, and the pediatrician may recommend specially-designed devices to protect the airway and facilitate feeding. Some children who have severe breathing problems may require a surgical procedure to make satisfactory breathing possible. (http://www.cleftline.org/what-we-do/publications/pierre-robin-sequence/)

Treatment Considerations: Since children with Pierre Robin Sequence/Complex may have a variety of health concerns, parents are often strongly advised to locate a craniofacial center where evaluation and treatment planning can be coordinated by an experienced multidisciplinary staff composed of health care professionals from many different specialties- including speech-language pathologists. This is not to imply that Speech-Language Pathologists working in other care and education settings may not work with children diagnosed with Pierre Robin Sequence. Please see the following excerpts from the American Association of Speech-Language Pathologists and Audiologists (ASHA) Position Statement regarding the “Roles of Speech-Language Pathologists in Swallowing and Feeding Disorders: Technical Report” http://www.asha.org/policy/TR2001-00150/

“The area of pediatric swallowing and feeding disorders is one of the most rapidly evolving patient care areas for medically based speech-language pathologists and other professionals serving children. In addition, as an increasing number of high-risk infants survive and enter educational programs, school-based speech-language pathologists must acquire medical knowledge and skills to manage swallowing and feeding disorders. These children are seen in early intervention and preschool programs, and then transition to school settings where they may be in regular classrooms with some specialized services as needed, or they may be in separate special education groups. In any case, school-based speech-language pathologists often provide services for their swallowing and feeding needs. ………

Feeding is a developmental process; when interrupted, children may demonstrate oral sensorimotor dysfunction, undernutrition (malnutrition or failure to thrive [FTT]), poor growth, delayed development, poor academic achievement, psychological problems, and loss of overall health and well-being. Oral sensorimotor function, swallowing, and respiration coordination are important processes that relate to development of normal feeding, eating, and speech motor skills. Therefore, the development of functional, safe eating is extremely important.

The speech-language pathologist is a primary professional involved in assessment and management of individuals with swallowing and feeding disorders.

Speech-language pathologists have extensive knowledge of anatomy, physiology, and functional aspects of the upper aerodigestive tract for swallowing and speech across the age spectrum including infants, children, and adults (including geriatrics). …… Speech-language pathologists also have extensive knowledge of the underlying medical and behavioral etiologies of swallowing and feeding disorders. In addition, they have expertise in all aspects of communication disorders that include cognition, language, and behavioral interactions, many of which may affect the diagnosis and management of swallowing and feeding disorders. Because of the complexities of assessment and treatment in most persons with swallowing and feeding disorders, speech-language pathologists and other professionals work as a team with families, caregivers, and patients. Those teams may vary in their composition of specialists depending on the setting, population, and needs of individuals.

Concerning treatment, the position paper goes on to state: “Regardless of the patient’s age and skill levels, primary goals of feeding and swallowing intervention are to support adequate nutrition and hydration, minimize the risk of pulmonary complications, and maximize the quality of life. Optimizing a child’s neurodevelopmental potential is an additional goal for the pediatric patient with swallowing and feeding problems. Speech-language pathologists strive to facilitate the development of coordinated movements of the mouth, respiratory, and phonatory systems for communication as well as for oral feeding. Intervention processes and techniques must never jeopardize the child’s nutrition and pulmonary status. Primary to a successful oral sensorimotor and swallowing program is the overall health of the child. Medical, surgical, and nutritional considerations are all important. In addition to oral-motor function, positioning, seating, muscle tone, and sensory issues all need to be addressed during treatment. If gastroesophageal reflux is a factor, adequate management is fundamental to other aspects of treatment. Underlying disease state(s), chronological and developmental age of the child, social/environmental arena, and psychological/behavioral factors all affect treatment recommendations.”

To summarize: As you can see, Pierre Robin Sequence is a complex pediatric diagnosis that may result in a variety of challenges for young children. If you are a family member concerned about a child with this diagnosis, I highly recommend consulting with the child’s pediatrician for advice as well as seeking recommendations from a specialized pediatric craniofacial treatment center where a team of medical professionals can coordinate the best treatment plan.