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Macroglossia and speech in Beckwith-Wiedemann syndrome: a sample survey study
J Van Borsel1, K Van Snick, J Leroy
1Ghent University Medical School, Ghent, Belgium.
International Journal of Language & Communication Disorders
|December 14, 2004
Summary
Beckwith-Wiedemann Syndrome (BWS) patients frequently have tongue overgrowth (macroglossia) and speech issues. Further research is needed to assess surgical effectiveness and speech therapy for BWS patients.
Area of Science:
- Pediatric Endocrinology
- Speech-Language Pathology
- Genetics
Background:
- Beckwith-Wiedemann Syndrome (BWS) is a congenital overgrowth disorder.
- Macroglossia is a common feature in BWS, potentially impacting speech development.
- Previous interventions for BWS-related speech issues lack comprehensive evaluation.
Purpose of the Study:
- To investigate the prevalence of macroglossia and articulation problems in BWS patients.
- To assess the effectiveness of surgical tongue reduction and articulation therapy in BWS.
- To identify areas for improved parental information and therapeutic strategies.
Main Methods:
- A sample survey study utilizing parent-completed questionnaires.
- Involved 40 patients diagnosed with Beckwith-Wiedemann Syndrome.
- Data collected on macroglossia presence and reported articulation difficulties.
Main Results:
- All 40 BWS patients exhibited macroglossia.
- Articulation problems were reported in 29 patients (72.5%).
- Speech difficulties persisted in some patients even after tongue surgery.
Conclusions:
- The efficacy of surgical tongue reduction for BWS articulation issues requires prospective validation.
- Current parental information regarding BWS management appears insufficient.
- The effectiveness of direct articulation therapy in BWS warrants further investigation.