Various aspects of hearing loss in newborns: A narrative review

Table 1 Common causes of hereditary hearing loss

Type	Mode of inheritance	Gene or syndrome	Type of deafness	Laterality	Severity of deafness	Systemic disorders
Non-syndromic	Autosomal dominant	WFS1	Mostly SNHL	Uni- or bilateral	Variables	No
		TECTA	Mostly SNHL	Uni- or bilateral	Variables	No
		COCH	Mostly SNHL	Uni- or bilateral	Variables	No
		KNCQ4	Mostly SNHL	Uni- or bilateral	Variables	No
	Autosomal recessive	GJB2	Mostly SNHL	Uni- or bilateral	Variables	No
		SLC26A4	Mostly SNHL	Uni- or bilateral	Variables	No
		MYO15A	Mostly SNHL	Uni- or bilateral	Variables	No
		OTOF	Mostly SNHL	Uni- or bilateral	Variables	No
		CDH23	Mostly SNHL	Uni- or bilateral	Variables	No
		TMC1	Mostly SNHL	Uni- or bilateral	Variables	No
Syndromic	Autosomal dominant	Neurofibromatosis 2	High frequency SNHL	Bilateral	Mild to profound	Facial nerve paresis or paralysis; Tinnitus; Vertigo
		Branchio-oto-renal syndrome	Mixed (50%), Conductive (30), SNHL (20%)	Bilateral	Severe and progressive	Otological problems (e.g. cochlear dysplasia), Branchial anomalies e.g. lateral cervical fistulae, Renal such as agenesis
		Treacher Collins	Conductive; Sensorineural or mixed hearing loss less common	Unilateral or bilateral	Various severities	Craniofacial abnormalities such as hypoplastic facial bones and external auditory canal atresia
		Stickler syndrome	Conductive; SNHL; Mixed	Unilateral or bilateral	Various severities	Ophthalmological such as vitreous anomaly. Joint hypermobility; Craniofacial anomalies such as hypertelorism
		Waardenburg syndrome				Dystopia canthorum, heterochromia iridium, white forelock, synophrys, broad nasal root, hypoplasia of, the alae nasi, patent metopic suture line, and a square jaw
	Autosomal recessive	Pendred syndrome	SNHL			Goiter and a partial defect in iodide organification
		Jervell and Lange–Nielsen syndrome	SNHL		Severe to profound	Marked prolongation of the QT interval, and multiple syncopal attacks induced by exercise or emotion
		Usher syndrome	SNHL	Bilateral	Various severities	Vestibular dysfunction, retinitis pigmentosa
		Refsum disease	SNHL		Severe and progressive	Peripheral polyneuropathy; Cerebellar ataxia; Retinitis pigmentosa; Ichthyosis
	X-linked dominant	Alport syndrome	SNHL	Bilateral	Progressive	Hemorrhagic nephritis; Vision changes
	Mitochondrial	MELAS	SNHL	Bilateral	Progressive	Short stature; Nausea; Migraines; Seizures; Alternating hemiparesis; Hemianopia; Cortical blindness
		MERRF				Myoclonic epilepsy; Ataxia; Dementia; Optic atrophy; Short stature; Neuropathy

SNHL: Sensorineural hearing loss.

Table 2 Studies from various nations using different tools to diagnose hearing loss in newborns

Authors	Country	Year	Sample size	Study method	Data type	Diagnostic tool	Predictor(s)
Malesci et al[7]	Italy	2022	318878	Longitudinal retrospective study	Newborns	UNHS	UNHS is feasible and effective
Chu et al[34]	Taiwan	2015	15345	Retrospective study	Newborns	UNHS; Genetic testing	A genetic profile of the connexin genes and SLC26A4 gene among infants with hearing impairment detected by a UNHS program in Taiwan
Durante et al[42]	Brazil	2021	105	Comparative study	Newborns	Transient-evoked otoacoustic emissions and distortion product otoacoustic emissions	The impact of smoking exposure could be analyzed through transient-evoked otoacoustic emissions in newborns.
Bielecki et al[44]	Poland	2011	5282	Comparative study	Newborns	UNHS	Most common risk factors for hearing loss; Ototoxic drugs; Premature birth; Low birth weight; Intensive care in excess of 7 d
Pitathawatchai et al[53]	Thailand	2023	126	A decision analytical model with a 78-year time horizon	Newborns	UNHS; TNHS	Both tools are cost-effective
Rawlinson et al[57]	Australia	2018	1669	Cohort study	Newborns, Infants	UNHS; CMV testing	Congenital CMV (5.9%) in infants with permanent hearing loss and who did not pass the UNHS
Boppana et al[62]	United States	2010	20448	Comparative study	Newborns	CMV testing	Saliva rapid culture had low sensitivity in comparison with CMV testing with DBS real-time PCR

UNHS: Universal newborn hearing screening; TNHS: Targeted newborn hearing screening; CMV: Cytomegalovirus; PCR: Polymerase chain reaction.