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Developmental outcome of children with Robin sequence: How does the question arise?
A Fleurance1, C Poets2, C Chalouhi1
1Department of General Paediatrics, Reference Centre for Rare Diseases "Pierre Robin Sequences and Congenital Sucking-swallowing Troubles", Necker University Hospital, Paris, France.
Insights
Robin sequence (RS) can impact development, but early treatment of respiratory and feeding issues in isolated cases leads to normal intellectual and academic outcomes. Syndromic cases often have poorer developmental results.
Area of Science:
- Medical Genetics
- Developmental Pediatrics
- Otolaryngology
Background:
- Robin sequence (RS) is a complex congenital disorder affecting facial structure and airway.
- It presents with retrognathia, glossoptosis, airway obstruction, and often cleft palate.
- Half of RS cases are associated with an underlying syndrome (syndromic RS).
Purpose of the Study:
- To evaluate the long-term intellectual and academic outcomes of children with Robin sequence.
- To differentiate outcomes based on the presence or absence of an underlying syndrome.
- To highlight the importance of early intervention for respiratory and feeding difficulties.
Main Methods:
- Review of existing literature on Robin sequence outcomes.
- Analysis of developmental trajectories in syndromic versus isolated RS cases.
- Assessment of factors influencing speech development post-palate repair.
Main Results:
- Intellectual outcome in syndromic RS is frequently poor.
- Children with isolated RS and early, effective treatment show near-normal intellectual and academic results.
- Speech development is often delayed, with phonation disorders, influenced by intellect, hearing, and velar function.
Conclusions:
- Early intervention is crucial for improving developmental outcomes in isolated Robin sequence.
- Syndromic RS requires careful management due to associated developmental challenges.
- Active monitoring and care for speech difficulties are essential for all children with RS.
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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