Characterization of hearing-impairment in Generalized Arterial Calcification of Infancy (GACI)

Table 2 Summary of GACI patients with audiology evaluations (n = 19)

Age (years)	Sex	Right ear					Left ear					Carhart notch	OCD Pattern	History of PET	NBHS Result
Age (years)	Sex	Degree of HL	Type of HL	Tymp	AR	Tympanic Membrane	Degree of HL	Type of HL	Tymp	AR	Tympanic Membrane	Carhart notch	OCD Pattern	History of PET	NBHS Result
0.7	M			A		Normal			As		Normal			No	Pass
2.0	F			A		Normal			A		Normal			No	Pass
➢4.1	F	Moderate	CHL	A		Normal	Moderate	CHL	A		Normal	No	Yes	No	Fail
➢4.2	M			B (PET)		PET			B (perf)		Thin; PET Extruded			PET	Pass
4.5	F	NH		A		Normal	NH		A		Normal		No	No	Pass
➢5.1	M	NH	NA	C		Minimal fluid under TM	Mild	CHL	B (MEE)		Yellow MEE	No	No	No	Pass
5.8	F	NH	NA	A			NH	NA	A		Normal		No	No	Pass
➢6.3	F	NH		C	Abs		NH		C	Abs	Normal		No
➢7.0†	M	Moderate	CHL*	A		Thin inferiorly, retracted onto promontory	Severe	CHL*	Ad		Monomeric		Yes	PET	Pass
➢7.9†	F	Mild	CHL*	A	Abs	Normal	Moderate	CHL*	Ad	Abs	Normal	BE	Yes	PET	Pass
➢8.2	M	NH	SubCl	A		Normal	NH	NA	A	Abs	Normal	No	Yes	No	Pass
➢8.9	F	Mild	SNHL	C		SOM	Mild	CHL	C		Retracted, SOM partially filling	RE	Yes	No	Fail
9.0	M			A		Normal			A				No	No	NR
9.7†	M	Moderate	CHL*	A	Abs	Normal	Moderate	CHL*	A	Abs	Thin posteriorly	No	Yes	PET	Fail
13.1	F	NH	NA	A	Elev	Normal	NH	NA	A	Abs	Normal	No	No	No	NR
➢25.5†	M	Moderate	CHL	A	Abs	Thickened, no SOM	Mild	CHL*	A	Abs	Thin, retracted	RE	Yes	PET	NR
26.3	F	NH		A	Abs	Normal	NH	NH	A	Pres	Normal	No	No	No	NR
35.7†^α	F	Profound	SNHL*	A	Abs	Normal	Profound	SNHL*	Ad	Abs	Normal			PET	Fail
38.5†	F	NH	NA	A	Elev	Normal	NH	NA	A	Elev	Normal	RE	Yes	No	NR

Abs absent, AR acoustic reflexes, BE both ears, CHL conductive hearing loss, Elev elevated, HL hearing loss, LE left ear, MEE middle ear effusion, NA not applicable, NBHS newborn hearing screening, NH normal hearing, NR not reported, OCD ossicular chain dysfunction, PET past or current pressure equalization tube, RE right ear, SNHL sensorineural hearing loss, SOM serous otitis media, SubCl subclinical air-bone gaps, TM tympanic membrane (as observed by otoscopy), Tymp tympanogram type
➢ Arrows denote nine of ten patients previously reported in Ferreira et al. [2]. The 10th previously reported patient was removed from this study due to cerumen impaction
^†Daggers denote hearing aid use in the patient
*Asterisks denote hearing aid use in the specific ear
^αThis 35.7-year-old female patient has bilateral EVA and biallelic pathogenic variants in SLC26A4
Periods represent insufficient data
Tympanogram types are defined in Additional file 1: Table S1

ISSN: 1750-1172