Multidisciplinary Velopharyngeal Dysfunction Evaluation Helps Detect Non-classic Cases of 22q11.2 Deletion

Area of Science:

• Genetics
• Pediatric Medicine
• Speech-Language Pathology

Background:

• 22q11.2 deletion syndrome (22q) is a complex genetic disorder with diverse clinical manifestations.
• Velopharyngeal dysfunction (VPD) is a common symptom in children with 22q, but its diagnostic role is not fully elucidated.
• Early diagnosis of 22q is crucial for timely intervention and improved patient outcomes.

Purpose of the Study:

• To investigate the utility of multidisciplinary VPD assessments in diagnosing 22q in pediatric populations.
• To identify clinical indicators within VPD evaluations that suggest 22q in undiagnosed children.
• To highlight the importance of a multidisciplinary approach for 22q diagnosis.

Main Methods:

• Retrospective cohort study of 75 children with genetically confirmed 22q evaluated at a tertiary pediatric hospital's VPD clinic.
• Data collected through comprehensive medical record review, ICD-10 codes, and institutional keyword searches.
• Analysis focused on patient characteristics, diagnostic pathways, and clinical presentations leading to 22q genetic testing.

Main Results:

• Nine out of 75 children (12%) were newly diagnosed with 22q following VPD evaluation.
• Non-cleft VPI was present in 100% of newly diagnosed 22q cases versus 52% of previously diagnosed cases (P=.008), serving as a significant indicator.
• Congenital heart disease, craniofacial abnormalities, and developmental delays were additional findings associated with 22q diagnosis.

Conclusions:

• Multidisciplinary VPD evaluations are effective in identifying previously undiagnosed cases of 22q.
• The presence of non-cleft VPI should prompt a high index of suspicion for 22q in children with unexplained VPI.
• Integrated clinical approaches involving specialists like plastic surgeons, otolaryngologists, and speech-language pathologists are vital for early 22q detection and management.