Developmental outcome in Pierre Robin sequence: A longitudinal and prospective study of a consecutive series of severe phenotypes |
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Authors: | Béatrice Thouvenin Juliette Djadi‐Prat Christel Chalouhi Sébastien Pierrot Stanislas Lyonnet Gérard Couly Véronique Abadie M.D. Ph.D. |
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Affiliation: | 1. General Pediatrics Department, H?pital Necker‐Enfants Malades, Paris, France;2. Biostatistics Unit, H?pital Necker‐Enfants Malades, Paris, France;3. ENT Department, H?pital Necker‐Enfants Malades, Paris, France;4. Genetics Department, H?pital Necker‐Enfants Malades, Paris, France;5. Paris Descartes University, Paris, France;6. Head and Neck Surgery Unit, H?pital Necker‐Enfants Malades, Paris, France |
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Abstract: | Pierre Robin sequence (PRS) is a congenital condition with a heterogeneous and imprecise developmental prognosis. We conducted a longitudinal prospective study analyzing the long‐term developmental outcome of a consecutive series of 39 children with PRS who had an a priori good prognosis (isolated PRS or PRS associated with a Stickler syndrome) but severe neonatal disorders (respiratory and feeding difficulties). Psychomotor and cognitive levels, speech, and eating behavior were assessed at 15 months of age and 3 and 6 years of age; 24 of the oldest children were interviewed at age 11 or 12 years. Results were analyzed by diagnosis, extent of respiratory and feeding disorders, and treatment modalities. Cognitive scores were within normal ranges and increased over time, from 90.5 at 15 months of age to 109.1 at 6 years. The 24 oldest children were enrolled in the appropriate junior high school grade at the normal age. For children 15 months of age, language scores were below the average, as were scores for vocabulary at 3 years for half of the patients. At 6 years, children's speech showed persistent rhinolalia, which was mild (47%), moderate (11%), or major (11%). At 15 months of age, 74% of the children had satisfactory eating behavior, and 15% had serious difficulties. At 3 and 6 years, 18% and 6% of the children, respectively, had eating problems. Treatment modalities had no significant effect on long‐term outcome. Global developmental quotient scores were lower but not significantly for children with an associated Stickler syndrome than those with isolated PRS. Children with isolated PRS showed good prognosis. © 2013 Wiley Periodicals, Inc. |
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Keywords: | Pierre Robin sequence Stickler syndrome feeding disorders upper airway obstruction tracheotomy phonation speech cognitive development |
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