Research and Innovations

Our team is actively engaged in clinical research that aims to help professionals and families understand more about the 22q deletion and its impact on affected children. Through such investigative efforts, we will learn how best to care for our patients and how to best help them live healthy and productive lives.

Predictors of Hypernasal Speech in 22q11.2 deletion syndrome (velocardiofacial/DiGeorge syndrome)

Purpose of study: The purpose of this study is to determine if there are differences in velopharyngeal (palate) function in children with 22q11.2 deletion syndrome (velocardiofacial/DiGeorge syndrome) when compared to children with cleft palate and controls.

Who can participate:

• Children with a diagnosis of 22q11.2 deletion syndrome (including children with velocardiofacial or DiGeorge syndrome).
• Children with repaired cleft palate without a syndrome.
• Children must be ages 4-18 years, have normal hearing at the time of participating in the study, and speak English.

What will happen during the study:

• Children will be asked to come to Nationwide Children's for a visit that will include:
• Making a recording of your child's voice while they repeat words, name pictures, and wear a special microphone on their head.
• Asking your child to repeat words and sounds while we measure the amount of air that comes out of your child's nose and mouth when they talk.
• Asking your child to repeat words and sentences while a tiny camera looks into their nose to see how your child's palate and throat move when they talk.

Being in the study takes about 1 hour. There is no cost to be in the study. We will tell you the results of the tests when your child completes the study. Compensation for time and travel is available. For more information about this study, please contact Adriane Baylis, PhD, CCC-SLP at (614) 722-3895.

Motor Speech Deficits in Children with 22q11.2 Deletion Syndrome

Children with 22q have been shown to have more severe articulation disorders and more severe resonance disorders than children with cleft palate; however, researchers and clinicians do not yet understand the nature of this difference. This study compares children with 22q to children with cleft palate to determine the presence, type, and severity of motor speech deficits in children with 22q. The results from this study will also help determine the impact of motor speech deficits on speech outcome in children with 22q. For more information about this study, please contact Adriane Baylis, PhD, CCC-SLP at (614) 722-3895.

Latest Findings in 22q Research

Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome
Published in the Journal of Pediatrics, these guidelines present the best-practice recommendations currently available for managing patients with 22q11.2 deletion syndrome, across the lifespan.  The guidelines include a major focus on the changing issues through childhood development.
 
Access an abstract of this study:  Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome. J Pediatr. 2011 May 11. [Epub ahead of print]