Understanding speech problems in 22q11.2 deletion syndrome for outcome prediction

Background: Understanding and managing speech problems in patients with 22q11.2 deletion syndrome (22q11DS) is especially challenging because many clinical findings are associated with the syndrome and the presentation is heterogeneous among patients. Naturally, parents are interested to know whether their child will benefit from surgery. However, prognostic factors remain elusive. Since the individual outcome is variable and difficult to predict, there is often disappointment. Our objectives were to increase the understanding of the etiology of velopharyngeal dysfunction (VPD) in 22q11DS and find prognostic factors for outcome. Methods and Results: Histological properties of the pharyngeal constrictor muscle did not differ between patients with and without the syndrome, and histological properties of the nucleus ambiguus did not differ between mice with and without the deletion. Platybasia was not correlated with speech resonance. In a chart review we found that half of our patients had residual hypernasal resonance following velopharyngoplasty. In a systematic review of the literature we found comparable results following other surgeries. Through a questionnaire we found that only one-third of all young adults with 22q11DS have normal speech. Conclusions: These studies have contributed to our understanding of speech problems in 22q11DS, and given clinicians some numbers to quote when informing parents and caregivers about the expected course of treatment and outcome. The etiology of VPD in 22q11DS is multifaceted, and is likely a sum of many factors. More research is needed before we will be able to achieve more predictable and reliable results for each patient with 22q11DS and VPD.