Holoprosencephaly: Clinical evaluation on audiological and brainstem electrophysiological profiles

Abstract

This study evaluated audiological and electrophysiological profiles in 13 patients with holoprosencephaly. All patients had imaging evaluation by magnetic resonance imaging and molecular screening for the genes SHH, GLI2, and SIX3. Each patient underwent clinical (otological and vestibular antecedents, otoscopy) and instrumental (tympanometry, auditory brainstem response-ABR) evaluation to compare hearing and the electrophysiological profile possibly occurring in patients with these mutations. To our knowledge there are no systematic studies correlating molecular/ imaging and evoked potentials in patients with HPE. Here, we discuss the audiological and electrophysiological profiles of patients and the possible role of the genes studied on the overall findings. ß 2006 Wiley-Liss, Inc.

Audiological chronological findings in children with congenital anomalies of the central nervous system

“…Most children with HPE have severe motor impairment and little expressive language ability [16][17][18][19]. Antoneli et al showed that patients with alobar HPE had abnormalities in ABRs represented by increased interwave latencies in addition to those with absent waves, whereas patients with lobar HPE had normal ABRs [20]. In our study, four of the nine patients with lobar HPE and the one patient with semilobar HPE had abnormal results for ABRs.…”

Holoprosencephaly and holoprosencephaly‐like phenotypes: Review of facial and molecular findings in patients from a craniofacial hospital in Brazil

“…This study was approved by the Ethics Committee of the Hospital de Reabilitacão de Anomalias Craniofaciais (HRAC‐USP) after obtaining informed consent from participants. The sample consisted of patients of our center with classical HPE phenotype and with the HPE‐like phenotype previously reported in the American Journal of Medical Genetics 2006–2009 [Ribeiro and Richieri‐Costa, 2005a,b; Antoneli et al, 2006; Rahimov et al, 2006; Ribeiro et al, 2006a,b; Richieri‐Costa and Ribeiro, 2006a,b; Zechi‐Ceide et al, 2009] and shown in Figures 1–6. To these cases, we added 35 new patients with HPE, 36 patients with HPE‐L phenotype, and 6 patients with HPE‐L associated with SCMI.…”

Saethre-Chotzen Syndrome, Pro136His TWIST Mutation, Hearing Loss, and External and Middle Ear Structural Anomalies: Report on a Brazilian Family

“…Neural integrity was evaluated with stimulus clicks (0.1 millisecond in duration, 21.1 clicks per second) at 80 dBHL. Absolute peak latency and interpeak latencies of each patient were compared with normal parameters previously reported (Antoneli et al, 2006) and interpreted according to the presence or absence of impairment of the central auditory pathways, independent of the audiological status for hearing loss.…”