Adults with VATER association: long-term prognosis

Area of Science:

• Pediatric Genetics
• Developmental Biology
• Clinical Genetics

Background:

• VATER association is a complex congenital anomaly with limited long-term prognostic data.
• Previous studies on VATER association primarily focused on children under 10 years old.
• Accurate long-term outcome data for VATER association is scarce, hindering prognostication.

Purpose of the Study:

• To conduct a long-term follow-up of individuals diagnosed with VATER association.
• To investigate the long-term medical and neurological outcomes in VATER association patients.
• To assess the accuracy of VATER association diagnosis and its long-term implications.

Main Methods:

• Longitudinal follow-up study of patients diagnosed with VATER association.
• Interviews and clinical examinations of 16 adult patients.
• Review of medical records and ascertainment of mortality data.

Main Results:

• Cognitive impairment was observed in 5 of 16 individuals, often associated with anomalies outside typical VATER spectrum.
• Adult incontinence was reported in 5 of 9 individuals with a history of imperforate anus.
• Growth deficiency (height ≤ 5th centile) affected 6 of 16 patients, and infertility was noted in 3 of 4 attempting conception.

Conclusions:

• VATER association is associated with significant long-term challenges including cognitive, functional, and reproductive issues.
• Individuals with VATER association may experience persistent medical problems into adulthood.
• Comprehensive long-term care and support are crucial for individuals with VATER association.