Table 1.

Methods Used for Diagnosis of Severe Pediatric Gastroesophageal Reflux for Study Subjects

Diagnosis	Diagnostic Methods	Subject Study Numbers
Affected (n = 26)	Endoscopy and biopsy	010, 012, 021, 022, 023, 029, 033,* 056, and 060 (n = 9)
	Barium swallow	026 and 027 (n = 2)
	pH probe	117 (n= 1)
	Barium swallow and pH probe	011, 028, 031,* 062, 103,* 105, and 106 (n = 7)
	Endoscopy, barium swallow, and pH probe	013,* and 032* (n = 2)
	History†	014, 020, 048, 101, and 104 (n = 5)
Presumptively affected (n = 10)	History	002, 016, 017,‡ 040, 043, 045, 054, 058, 108, and 114

^*Subject underwent fundoplicatioπ to surgically prevent gastroesophageal reflux (GER).

^†Definitive severe pediatric GER diagnoses, based on histories, were made for children (study numbers [SNs] 014, 020, and 104) who exhibited multiple signs and symptoms consistent with GER; had siblings who displayed the same signs and symptoms and who had been diagnosed using objective methods of analysis; and resolved their GER symptoms when treated with antireflux medications, providing a posteriori evidence of severe pediatric GER. Definitive severe pediatric GER diagnoses, based on histories, were made for adults (SNs 048 and 101) who had overwhelming GER signs and symptoms as children that persisted unabated throughout adolescence and extended to the time of this study. Both of these persons also had children diagnosed with severe pediatric GER; however, SN 048’s son did not participate in this study and is not shown on the pedigree.

^‡Individual was diagnosed with esophagitis by endoscopy as a young adult.