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Introduction: 22q11.2 deletion syndrome (22qDS) is the most common chromosomal microdeletion syndromes. The incidence in the literature ranges between 1:1000-1:3000 livebirths. 1,2 These patients present with a wide array of symptoms including, but not limited to, cardiac anomalies, immunodeficiency, velopharyngeal insufficiency, hypoparathyroidism and developmental delay. Feeding difficulties are commonly reported in this patient population however little is known about the pathogenesis, progression over time, and treatment strategies. The goal of this study is to better understand the incidence of feeding difficulties, work-up and management strategies for dysphagia, and outcomes over time for pediatric patients with 22qDS.

Methods: After approval from the IRB, a retrospective chart review was performed for 166 consecutive patients enrolled in the CMH 22q team repository. The charts were reviewed for genetic diagnosis, evidence of feeding difficulties, recurrent aspiration, failure to thrive and dysphagia. We reviewed all patients with oral or pharyngeal dysphagia, aspirations, failure to thrive due to feeding intolerance or aversive feeding patterns. The need for alternative feeding methods such as nasogastric tube feeding or gastrostomy tube feeding were noted. Patients who underwent video fluoroscopic swallow studies (VFSS) were identified and the findings recorded. Patients who underwent flexible and surgical laryngoscopies as well as injection laryngoplasties were recorded.

Results: One hundred and sixty-six patient charts were reviewed. Sixty-five patients (39%) had reported feeding concerns and had been evaluated by a therapist. Structural abnormalities were relatively common with 11% having laryngomalacia and 7% with laryngeal cleft. Thirty-nine patients (28%) underwent a total of 65 VFSS; 13 patients had more than one VFSS. Results of VFSS showed 72.3% had oral dysphagia, 78.5% had pharyngeal dysphagia, and 56.9% showed penetrations into the larynx. Of the 13 with repeat studies and oral dysphagia, 7 patients had no change in their dysphagia, 3 patients had improvement, and 2 patients had worsening. Four percent of patients had reported failure to thrive, and 23% had history of a gastrostomy tube.

Conclusion: Feeding difficulties were commonly reported in our large cohort of patients with 22qDS. It was frequent for patients to be evaluated by a feeding therapist and to undergo formal swallow study. Gastrostomy tube was required in nearly one quarter of patients. Providers caring for patients with 22q should be aware of the potential for feeding difficulties to ensure timely diagnosis and treatment. Future studies are needed to better characterize dysphagia outcomes over time for patients with 22qDS.

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Feeding And Swallowing Disorders In Children With 22q11.2 Deletion Syndrome