Developmental outcome of children with Robin sequence: How does the question arise?

  • A. Fleurance
    Affiliations
    Department of General Paediatrics, Reference Centre for Rare Diseases “Pierre Robin Sequences and Congenital Sucking-swallowing Troubles”, Necker University Hospital, Paris, France
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  • C. Poets
    Affiliations
    Interdisciplinary Centre for Cleft Palate & Craniofacial Malformations and Department of Neonatology, University Hospital, Tübingen, Germany
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  • C. Chalouhi
    Affiliations
    Department of General Paediatrics, Reference Centre for Rare Diseases “Pierre Robin Sequences and Congenital Sucking-swallowing Troubles”, Necker University Hospital, Paris, France
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  • B. Thouvenin
    Affiliations
    Department of General Paediatrics, Reference Centre for Rare Diseases “Pierre Robin Sequences and Congenital Sucking-swallowing Troubles”, Necker University Hospital, Paris, France
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  • V. Abadie
    Correspondence
    Corresponding author. Service de pédiatrie générale, Hôpital Universitaire, Necker 149 rue de Sèvres, 75015, Paris, France.
    Affiliations
    Department of General Paediatrics, Reference Centre for Rare Diseases “Pierre Robin Sequences and Congenital Sucking-swallowing Troubles”, Necker University Hospital, Paris, France

    Paris University, Paris, France
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Published:September 17, 2021DOI:https://doi.org/10.1016/j.siny.2021.101286

      Highlights

      • In patients with RS, genetic investigations must be repeated until a diagnosis is identified. This allowsto foresee long-term developmental prognosis.
      • Optimal management of respiratory and feeding disorders is important for long-term intellectual development.
      • Otitis media must be treated, velar insufficiency re-educated or re-operated, in order to optimize speech development.

      Abstract

      Robin sequence (RS) is a heterogeneous congenital condition characterized by retrognathia, glossoptosis, upper airway obstruction, and very often, posterior U-shape cleft palate. Half the children with RS have an underlying syndrome, either identified (syndromic RS) or not (RS+). Long-term intellectual developmental outcome first depends on the underlying diagnosis and is often poor in syndromic cases. On the contrary, the rare studies that analysed the long-term developmental outcome of children with isolated RS who received effective treatment of their respiratory and feeding difficulties early in life, showed intellectual and academic results close to or within the normal range. Speech outcome in RS is often delayed with phonation disorders. Speech difficulties depend on intellectual level, hearing and velar function after palate repair. It affects most children with RS and deserves active monitoring and care.
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