Temporal Bone Study of Down's Syndrome

Temporal bone histopathologic findings in partial trisomy 13 and partial trisomy 14

“…Stapes abnormalities previously reported in trisomy 13 include bulky stapes, thick crura and footplate, and more central attachment of the anterior and posterior crura to the footplate [5]. The facial nerve canal dehiscence which was observed in our case also occurs in trisomy 13 and other chromosomal aberrations such as trisomy 21, trisomy 22, and 4pÀ [5,[8][9][10][11][12][13][14][15]. Other middle ear abnormalities including small facial nerve, persistence of the stapedial artery, wide angle of the facial genu, and absence of the pyramidal eminence described in trisomy 13 were not observed in the present case.…”

“…Ulualp et al communication between the utricle and saccule. An abnormal shape of the cochlea has been reported in trisomy 13 as well as in trisomies of chromosomes 21 and 22 [5,[8][9][10][11][12]. In addition to the overall malformation of the cochlea, absence of the hook portion, malformed apical turn, and absence or underdevelopment of the modiolus have been demonstrated in trisomy 13 [3][4][5].…”

“…Studying the temporal bones of patients with chromosomal disorders provides an opportunity to identify the association of certain ear anomalies with specific chromosomal abnormalities. Ear anomalies affecting the external, middle, and inner ear have been documented in temporal bone studies of patients with chromosomal disorders such as trisomy 13 (Patau Syndrome) [2][3][4][5], trisomy 18 (Edwards Syndrome) [6,7], trisomy 21 (Down Syndrome) [8][9][10][11], trisomy 22 [12], 4pÀ (Wolf-Hirschhorn Syndrome) [13][14][15], and Turner Syndrome [16,17]. The nature and extent of ear anomalies vary according to the particular chromosomal aberration that may be present.…”

UK and Ireland experience of cochlear implants in children with Down Syndrome

“…Studies have shown, however, that good management of preimplantation otitis media can allow implantation without delay, and once implanted, possibly due to the effect of the cortical mastoidectomy involved in the implantation procedure, the rate of otitis media reduces [15]. Otitis media in children with DS is more frequent, and often more difficult to treat [16]. The glue produced tends to be thicker, blocking ventilation tubes (VT), immunodeficiency contributes to higher rates of VT infection and extrusion and multiple sets of tubes are often required.…”

Percepção da fala em bebês no primeiro ano de vida

“…A literatura tem descrito alterações em todas as partes do sistema auditivo periférico e central em pessoas com SD (Balkany, 1980;Becker, Mito, Takashima, & Onodera, 1991;Bilgin, Kasemsuwan, Schachern, Paparella, & Le, 1996;Dahle & Baldwin, 1992;Strome & Strome, 1992). No estudo de Tristão e Feitosa (2000) foi mostrada a relação entre distúrbios encontrados no aparelho auditivo, replicando os dados da literatura, e um comprometimento maior no desenvolvimento da linguagem.…”