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Modified Resistance Water Therapy for Children With 22q11.2 Deletion Syndrome and Cleft Palate: A Pilot Observational
Václav Baslík1,2,3, Jitka Vokurková1,4,5, Darina Čurdová1
1Cleft Center of the University Hospital Brno, University Hospital Brno Brno Czech Republic.
Background And Aims:
22q11.2 deletion syndrome (22q11.2DS) is frequently associated with cleft palate and persistent velopharyngeal dysfunction, resulting in hypernasality and reduced speech intelligibility despite surgical repair. Conventional therapies often provide inconsistent outcomes. This pilot study aimed to evaluate the feasibility and potential effects of modified resistance water therapy (MRWT) on speech outcomes in children with 22q11.2DS.
Methods:
This retrospective observational pilot study included nine children (aged 3-9 years) with genetically confirmed 22q11.2DS and a history of cleft palate (including submucous cleft palate) with persistent hypernasality after palatoplasty. MRWT was administered as a home-based therapy using a silicone tube submerged in water, under regular supervision during follow-up visits with a speech therapist at a cleft center. Speech was assessed using blinded ratings of hypernasality (4-point scale), speech intelligibility (5-point scale), and articulation (percentage of phonemes correct, PPC). Statistical analysis was performed using the Wilcoxon signed-rank test, and inter-rater reliability was assessed using Cohen's kappa.
Results:
Significant improvements were observed across all assessed speech parameters. Hypernasality decreased significantly, with median scores improving from 2 to 1 (p = 0.003), while speech intelligibility showed a similar improvement from 2 to 1 (p = 0.011). PPC increased from 70.5% to 92% (p = 0.004). Inter-rater reliability was substantial to almost perfect (κ ≈ 0.79-0.89).
Conclusion:
MRWT appears to be a feasible, low-cost, and non-invasive adjunctive therapy with promising potential to improve speech outcomes in children with 22q11.2DS. Given the multifactorial etiology of velopharyngeal dysfunction in this population, MRWT may represent a useful addition to multidisciplinary care. However, larger prospective controlled studies are required to confirm its efficacy.