Quality of life and phonatory and morphological outcomes in cognitively unimpaired adolescents with Pierre Robin sequence: a cross-sectional study of 72 patients
Abstract Background Pierre Robin sequence (PRS) is a heterogeneous condition involving retro(micro)gnathia, glossoptosis and upper airway obstruction, very often with posterior cleft palate. Patients with PRS, either isolated or associated with Stickler syndrome have good intellectual prognosis. Nev...
| Main Authors: | , , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2021-10-01
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| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13023-021-02072-0 |
| _version_ | 1819143364438654976 |
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| author | Béatrice Thouvenin Véronique Soupre Marie-Anne Caillaud Charlotte Henry-Mestelan Christel Chalouhi Bachar Houssamo Cécile Chapuis Katia Lind Aurélie Royer Nancy Vegas Jeanne Amiel Gérard Couly Arnaud Picard Laurence Vaivre-Douret Véronique Abadie |
| author_facet | Béatrice Thouvenin Véronique Soupre Marie-Anne Caillaud Charlotte Henry-Mestelan Christel Chalouhi Bachar Houssamo Cécile Chapuis Katia Lind Aurélie Royer Nancy Vegas Jeanne Amiel Gérard Couly Arnaud Picard Laurence Vaivre-Douret Véronique Abadie |
| author_sort | Béatrice Thouvenin |
| collection | DOAJ |
| description | Abstract Background Pierre Robin sequence (PRS) is a heterogeneous condition involving retro(micro)gnathia, glossoptosis and upper airway obstruction, very often with posterior cleft palate. Patients with PRS, either isolated or associated with Stickler syndrome have good intellectual prognosis. Nevertheless, the quality of life in adolescence and the phonatory and morphological outcomes are rarely analysed. We assessed the phonatory and morphological outcomes of 72 cognitively unimpaired adolescents with PRS, studied their oral (COHIP-SF19), vocal (VHI-9i) and generic quality of life (QoL; KIDSCREEN-52), and searched for determinants of these outcomes. Results Two-thirds of our adolescents retained low or moderate phonation difficulties, but risk factors were not identified. For 14%, morphological results were considered disharmonious, with no link to neonatal retrognathia severity. Only one vs two-stage surgery seemed to affect final aesthetic results. The oral QoL of these adolescents was comparable to that of control patients and was significantly better than that of children with other craniofacial malformations (COHIP-SF19 = 17.5, 15.4 and 25.7, respectively). The oral QoL of the adolescents with non-isolated PRS was significantly worse (COHIP-SF19 = 24.2) than that of control patients and close to that of children with other craniofacial malformations. The vocal QoL of the adolescents (mean [SD] VHI-9i = 7.5 [5.4]) was better than that of patients with other voice pathologies and better when phonation was good. The generic QoL of the adolescents was satisfactory but slightly lower than that of controls, especially in dimensions concerning physical well-being, relationships and autonomy. QoL results were lower for adolescents with non-isolated than isolated PRS. Only non-isolated PRS and low oral QoL affected generic QoL. Conclusion Morphological or phonatory impairments remain non-rare in adolescents with PRS but do not seem to be directly responsible for altered QoL. These adolescents, especially those with non-isolated PRS, show self-confidence and social-relation fragility. We must focus on long-term functional and psychological results for PRS patients and improve therapy protocols and follow-up, notably those affecting the oral aspects of the disease. |
| first_indexed | 2024-12-22T12:25:04Z |
| format | Article |
| id | doaj.art-c1621709acc0475a988a4f5d87c333a3 |
| institution | Directory Open Access Journal |
| issn | 1750-1172 |
| language | English |
| last_indexed | 2024-12-22T12:25:04Z |
| publishDate | 2021-10-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj.art-c1621709acc0475a988a4f5d87c333a32022-12-21T18:25:50ZengBMCOrphanet Journal of Rare Diseases1750-11722021-10-0116111510.1186/s13023-021-02072-0Quality of life and phonatory and morphological outcomes in cognitively unimpaired adolescents with Pierre Robin sequence: a cross-sectional study of 72 patientsBéatrice Thouvenin0Véronique Soupre1Marie-Anne Caillaud2Charlotte Henry-Mestelan3Christel Chalouhi4Bachar Houssamo5Cécile Chapuis6Katia Lind7Aurélie Royer8Nancy Vegas9Jeanne Amiel10Gérard Couly11Arnaud Picard12Laurence Vaivre-Douret13Véronique Abadie14General Paediatrics Unit, Necker University Hospital, APHPReferral Centre for Rare Diseases “Syndrome de Pierre Robin et troubles de succion-déglutition congénitaux», Necker University Hospital, APHPIQVIAGeneral Paediatrics Unit, Necker University Hospital, APHPGeneral Paediatrics Unit, Necker University Hospital, APHPReferral Centre for Rare Diseases “Syndrome de Pierre Robin et troubles de succion-déglutition congénitaux», Necker University Hospital, APHPPaediatric Maxillofacial and Plastic Surgery Unit, Necker University Hospital, APHPGeneral Paediatrics Unit, Necker University Hospital, APHPGeneral Paediatrics Unit, Necker University Hospital, APHPGeneral Paediatrics Unit, Necker University Hospital, APHPImagine InstitutePaediatric Maxillofacial and Plastic Surgery Unit, Necker University Hospital, APHPReferral Centre for Rare Diseases “Syndrome de Pierre Robin et troubles de succion-déglutition congénitaux», Necker University Hospital, APHPImagine InstituteGeneral Paediatrics Unit, Necker University Hospital, APHPAbstract Background Pierre Robin sequence (PRS) is a heterogeneous condition involving retro(micro)gnathia, glossoptosis and upper airway obstruction, very often with posterior cleft palate. Patients with PRS, either isolated or associated with Stickler syndrome have good intellectual prognosis. Nevertheless, the quality of life in adolescence and the phonatory and morphological outcomes are rarely analysed. We assessed the phonatory and morphological outcomes of 72 cognitively unimpaired adolescents with PRS, studied their oral (COHIP-SF19), vocal (VHI-9i) and generic quality of life (QoL; KIDSCREEN-52), and searched for determinants of these outcomes. Results Two-thirds of our adolescents retained low or moderate phonation difficulties, but risk factors were not identified. For 14%, morphological results were considered disharmonious, with no link to neonatal retrognathia severity. Only one vs two-stage surgery seemed to affect final aesthetic results. The oral QoL of these adolescents was comparable to that of control patients and was significantly better than that of children with other craniofacial malformations (COHIP-SF19 = 17.5, 15.4 and 25.7, respectively). The oral QoL of the adolescents with non-isolated PRS was significantly worse (COHIP-SF19 = 24.2) than that of control patients and close to that of children with other craniofacial malformations. The vocal QoL of the adolescents (mean [SD] VHI-9i = 7.5 [5.4]) was better than that of patients with other voice pathologies and better when phonation was good. The generic QoL of the adolescents was satisfactory but slightly lower than that of controls, especially in dimensions concerning physical well-being, relationships and autonomy. QoL results were lower for adolescents with non-isolated than isolated PRS. Only non-isolated PRS and low oral QoL affected generic QoL. Conclusion Morphological or phonatory impairments remain non-rare in adolescents with PRS but do not seem to be directly responsible for altered QoL. These adolescents, especially those with non-isolated PRS, show self-confidence and social-relation fragility. We must focus on long-term functional and psychological results for PRS patients and improve therapy protocols and follow-up, notably those affecting the oral aspects of the disease.https://doi.org/10.1186/s13023-021-02072-0Pierre Robin sequenceGeneric quality of lifeOral quality of lifeVocal quality of lifeOutcome |
| spellingShingle | Béatrice Thouvenin Véronique Soupre Marie-Anne Caillaud Charlotte Henry-Mestelan Christel Chalouhi Bachar Houssamo Cécile Chapuis Katia Lind Aurélie Royer Nancy Vegas Jeanne Amiel Gérard Couly Arnaud Picard Laurence Vaivre-Douret Véronique Abadie Quality of life and phonatory and morphological outcomes in cognitively unimpaired adolescents with Pierre Robin sequence: a cross-sectional study of 72 patients Orphanet Journal of Rare Diseases Pierre Robin sequence Generic quality of life Oral quality of life Vocal quality of life Outcome |
| title | Quality of life and phonatory and morphological outcomes in cognitively unimpaired adolescents with Pierre Robin sequence: a cross-sectional study of 72 patients |
| title_full | Quality of life and phonatory and morphological outcomes in cognitively unimpaired adolescents with Pierre Robin sequence: a cross-sectional study of 72 patients |
| title_fullStr | Quality of life and phonatory and morphological outcomes in cognitively unimpaired adolescents with Pierre Robin sequence: a cross-sectional study of 72 patients |
| title_full_unstemmed | Quality of life and phonatory and morphological outcomes in cognitively unimpaired adolescents with Pierre Robin sequence: a cross-sectional study of 72 patients |
| title_short | Quality of life and phonatory and morphological outcomes in cognitively unimpaired adolescents with Pierre Robin sequence: a cross-sectional study of 72 patients |
| title_sort | quality of life and phonatory and morphological outcomes in cognitively unimpaired adolescents with pierre robin sequence a cross sectional study of 72 patients |
| topic | Pierre Robin sequence Generic quality of life Oral quality of life Vocal quality of life Outcome |
| url | https://doi.org/10.1186/s13023-021-02072-0 |
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