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The two siblings with a severe defect in mitochondrial translation, reduced levels of oxidative phosphorylation complexes containing mitochondrial DNA (mtDNA) encoded subunits, and progressive hepatoencephalopathy are investigated. The defective gene to a region on chromosome 3q containing elongation factor G1, which encodes a mitochondrial translation factor is outlined.

A small percentage of newborn babies will have hearing disorders, some of which will be chronic. In a study of 777 newborn babies, 41 (5%) had a hearing disorder. Risk factors for a hearing disorder included meningitis or bacterial infection in the blood, facial malformations, and a family history of hearing loss. Eighteen babies continued to have a hearing disorder in a follow-up exam, and 7 required a hearing aid., Objective. To determine the incidence and risk factors for hearing disorders in a selected group of neonates and the feasibility of selective hearing screening. Settings. Multicenter prospective trial at five centers in Germany. Methods. Enrollment criteria: in addition to previously defined risk factors by the Joint Committee on Infant Hearing (family history of hearing loss, in utero infections, craniofacial anomalies, birth weight [is less than] 1500 g, critical hyperbilirubinemia, ototoxic medications, bacterial meningitis, postnatal asphyxia, mechanical ventilation [is greater than] 5 days, stigmata, or syndromes associated with hearing loss), the impact of maternal drug abuse, birth weight [is less than] 10th percentile, persistent pulmonary hypertension, and intracranial hemorrhage more than or equal to grade III or periventricular leukomalacia on infant hearing were evaluated. The screening procedure was performed by automated auditory brainstem response (A-ABR; ALGO 1-plus; Natus Med Inc, San Carlos, CA). Statistics: univariate analyses of risk factors versus A-ABR results and a multivariate regression analysis were used; additionally, the total test time was recorded. Results. Seven hundred seventy recordings from 777 infants enrolled consecutively constitute the basis of this analysis. Mean gestational age was 33.8 [+ or -] 4.3 weeks, birth weight 2141 [+ or -] 968 g; 431 infants being male and 339 female; 41 (5.3%) infants exhibited pathologic A-ABR results (16 bilateral and 25 unilateral). Meningitis or sepsis, craniofacial malformations, and familial hearing loss were independent significant risk factors. Median total test time was 25 minutes. Follow-up examinations in 31 infants revealed persistent hearing loss in 18 infants (13 infants sensorineural, 5 from mixed disorders), 7 requiring amplification. Conclusion. Hearing screening in high-risk neonates revealed a total of 5% of infants with pathologic A-ABR (bilateral 2%). Significant risk factors were familial hearing loss, bacterial infections, and craniofacial abnormalities. Other perinatal complications did not significantly influence screening results indicating improved perinatal handling in a neonatal population at risk for hearing disorders. Pediatrics 1999;104:900-904; hearing screening, neonates, craniofacial malformations, sepsis, familial hearing loss; follow-up., ABBREVIATIONS. ABR, auditory brainstem response; OAE, otoacoustic emissions; A-ABR, automated auditory brainstem response; PPHN, persistent pulmonary hypertension of the newborn. One to 2 of 1000 newborns suffer from congenital or [...]