Apparent life-threatening events, facial dysmorphia and sleep-disordered breathing

A standardized clinical evaluation and questionnaire was, beginning in 1985 , applied to infants referred for an apparent life-threatening event (ALTE) . All children who underwent this "core evaluation protocol" during a 10-ye ar period were reviewed. Documentation of clinical complaints. symptoms and signs of sleep-disordered breathing, sleep/wake evaluation, systematic eva luation of the face and naso-oro-pharynx, nocturnal polygraphic recording, and systematic follow-up was conducted. A total of 346 infants had complete data sets, with a smaller group of 46 age-matched healthy infants as contr ols. A scorer blind to the clinical data analyzed the polygraphic investiga tion and divided the 346 referred into two groups. Group A, 42.6% of the po pulation, included infants with no abnormal findings based on nocturnal pol ygraphic recording. These infants were no different from controls at initia l evaluation and during follow-up. Group B, 57.4% of the population, includ ed infants who had obstructive breathing during sleep which became more obv ious over time, Two-thirds of these infants not only had clinical symptoms of sleep-disordered breathing but also had mild facial dysmorphia that coul d be seen clearly at 6 months of age. Conclusion A subgroup of infants with apparent life-threatening events pres ent an indication of a sleep-disordered breathing syndrome which is associa ted with a mild dysmorphia. This mild facial dysmorphia needs to be recogni zed early to distinguish these infants from other infants with apparent lif e-threatening events and to initiate appropriate treatment.