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The Incudomalleolar Articulation in Down Syndrome (Trisomy 21): a Temporal Bone Study

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The Incudomalleolar Articulation in Down Syndrome (Trisomy 21): a Temporal Bone Study Zurich Open Repository and Archive University of Zurich Main Library Strickhofstrasse 39 CH-8057 Zurich www.zora.uzh.ch Year: 2015 The incudomalleolar articulation in down syndrome (trisomy 21): a temporal bone study Fausch, Christian ; Röösli, Christof Abstract: HYPOTHESIS: One reason for conductive hearing loss (HL) in patients with Down syndrome (DS) is structural anomalies in the incudomalleolar joint (IMJ) that impair sound transmission. BACK- GROUND: The majority of hearing losses in patients with DS are conductive. One reason is the high incidence of inflammatory processes such as otitis media. However, in some patients, the middle earseems to be normal. The assumption of structural disorders causing a HL is supported by a previous study revealing structural abnormalities of the incudostapedial joint (ISJ) in these patients. METHODS: In a retrospective analysis, histologic sections of the IMJ of 16 patients with DS were compared with 24 age- and sex-matched subjects with normal middle ear ossicles. The length of 8 parameters of the IMJ were measured at 3 positions and compared between the 2 groups. RESULTS: Age (p = 0.318) and sex distri- bution (p = 1) for the DS group and the matched controls were comparable. The IMJs (p < 0.001) and the cartilage of patients with DS are significantly wider in most measurements compared with controls. However, the joint space is not significantly different in the 2 groups. CONCLUSION: Conductive HL might be caused by a significantly wider IMJ in patients with DS supporting the findings of aprevious study reporting similar findings for the ISJ. The etiology of these findings is unclear. Patients withDS have a high prevalence of deficient collagen synthesis. Immunohistochemical analysis may be needed to investigate the collagen structure of the ISJ and IMJ in patients with DS. DOI: https://doi.org/10.1097/MAO.0000000000000456 Posted at the Zurich Open Repository and Archive, University of Zurich ZORA URL: https://doi.org/10.5167/uzh-107959 Journal Article Published Version Originally published at: Fausch, Christian; Röösli, Christof (2015). The incudomalleolar articulation in down syndrome (trisomy 21): a temporal bone study. Otology Neurotology, 36(2):348-353. DOI: https://doi.org/10.1097/MAO.0000000000000456 Otology & Neurotology 36:348Y353 Ó 2015, Otology & Neurotology, Inc. The Incudomalleolar Articulation in Down Syndrome (Trisomy 21): A Temporal Bone Study Christian Fausch and Christof Ro¨o¨sli Department of Otorhinolaryngology, Head and Neck Surgery, University Hospital Zurich, Zurich, Switzerland Hypothesis: One reason for conductive hearing loss (HL) in Results: Age (p = 0.318) and sex distribution (p = 1) for the DS patients with Down syndrome (DS) is structural anomalies in the group and the matched controls were comparable. The IMJs (p G incudomalleolar joint (IMJ) that impair sound transmission. 0.001) and the cartilage of patients with DS are significantly Background: The majority of hearing losses in patients with DS wider in most measurements compared with controls. However, are conductive. One reason is the high incidence of inflamma- the joint space is not significantly different in the 2 groups. tory processes such as otitis media. However, in some patients, Conclusion: Conductive HL might be caused by a significantly the middle ear seems to be normal. The assumption of structural wider IMJ in patients with DS supporting the findings of a disorders causing a HL is supported by a previous study re- previous study reporting similar findings for the ISJ. The eti- vealing structural abnormalities of the incudostapedial joint ology of these findings is unclear. Patients with DS have a high (ISJ) in these patients. prevalence of deficient collagen synthesis. Immunohistochem- Methods: In a retrospective analysis, histologic sections of the ical analysis may be needed to investigate the collagen struc- IMJ of 16 patients with DS were compared with 24 age- and sex- ture of the ISJ and IMJ in patients with DS. Key Words: matched subjects with normal middle ear ossicles. The length of Conductive hearing lossVDown syndromeVHistopathologyV 8 parameters of the IMJ were measured at 3 positions and Incudomalleolar jointVTemporal bone. compared between the 2 groups. Otol Neurotol 36:348Y353, 2015. After early efforts by Seguin to differentiate the Down syndrome is known to be associated with path- symptoms of trisomy 21 (Down syndrome, DS) from cre- ologic changes of joints such as ligament laxity, tinism, the English neurologist John Landon-Down first hypermobility, and bony anomalies (5). Up to 20% of described a specific nosologic category of the symptoms as patients with DS experience atlantoaxial instability (6). a distinct form of mental disability in 1862 (1). The typical Therefore, it is reasonable to assume that the joints in the karyotype had been discovered in 1959 by Lejeune et al. middle ear could also be affected by pathologic changes. (2). Down syndrome is one of the most common genetic In the past, most temporal bone studies of subjects with aberrations in humans that results in intellectual disability. DS focused on the histopathologic characteristics of the It is caused by a chromosomal condition in which a third inner ear, not placing much emphasis on the middle ear. copy of the long arm of human chromosome 21 is present However, some histopathologic studies of temporal bones (3). Among other disabilities, children with DS have a high have shown numerous abnormalities of the middle ear, prevalence of hearing loss (HL). It is estimated to be found especially the ossicular chain (7). A study of the incudo- in two-thirds of all patients. Of these, around 80% are stapedial joint (ISJ) in DS revealed that the distance be- conductive, of which, 60% are related to tympanic mem- tween the head of the stapes and the lenticular process of brane perforation and/or otitis media with middle ear ef- the incus is significantly wider compared with age-matched fusion. However, middle ear structures seem normal in normally hearing subjects. A wider joint might result in a many patients, and the cause for the conductive HL re- less efficient transmission of sound energy (8). These mains unclear (4). findings indicate one possible cause for conductive HL; however, the specific role of the incudomalleolar joint (IMJ) in contributing to hearing sensitivity remains un- clear. Kaf (9) compared wideband energy reflectance in Address correspondence and reprint requests to Christian Fausch, patients with DS with healthy controls and found signifi- M.D., Department of Otorhinolaryngology, University Hospital Zurich, cant differences between 5.7 and 8 kHz in the DS group. Frauenklinikstrasse 24, CH-8091 Zurich, Switzerland; E-mail: [email protected] This difference manifests in a higher frequency range than The authors disclose no conflicts of interest. expected. Energy reflectance in patients with ossicular 348 Copyright © 2015 Otology & Neurotology, Inc. Unauthorized reproduction of this article is prohibited. INCUDOMALLEOLAR ARTICULATION IN DS 349 interruptions is reported to show sharp minima between 0.6 and 2 kHz (10). One possible explanation is the difference in ear canal volume (smaller in the DS group), another the lack of conductive hearing loss, as hearing thresholds are not reported. Many investigations have been made to de- termine the role of the IMJ in sound transmission. In 2002, Willi et al. (11) demonstrated that the articulation is not to be seen as a rigid body. Moreover, it seems that the elastic tissues of the medial and lateral ligaments define the mechanics of the frequency dependent motions. Laxity in this particular joint causes inappropriate motion between the malleus and incus leading to transmission loss, which affects the middle ear. Such laxity may be caused by a wider joint. In this study, we investigated the quantitative aspects of the anatomy of the IMJ in subjects with DS to char- acterize further the findings of previous studies (8). We hypothesized that the histologic anatomy of the IMJ in patients with DS would differ from the IMJ of a matched control group without DS (Fig. 1). FIG. 2. Illustration of the measurement positions in a logic dia- gram of a midsection of the incudomalleolar articulation. (1/2) MATERIALS AND METHODS stands is defined as midline. The temporal bone collection of the ENT Department of the The camera was linked to a scanning program (Axiovision 4.6.3; University Hospital of Zurich served as a source for the temporal Carl Zeiss AG, Oberkochen, Germany), which was running on a bone sections. Of 19 subjects with DS, 16 met the inclusion criteria personal computer (HP Compaq dc7900 Convertible Minitower; (presence of a section through the IMJ and the absence of artifacts). HP, Palo Alto, USA). Investigations and the photographs were They were compared with 24 age- and sex-matched controls. made using a magnification of Â1.6 and Â5.0. The temporal bones had been processed for light microscopy All measurements were made using ImageJ (http://rsbweb.nih. using the standard method of fixation in formalin, decalcification gov/ij/). On each cross-sectional slide of the articulation, 25 pa- using trichloroacetic acid or ethylenediaminetetraacetic acid, em- rameters were defined and statistically compared between the 2 bedding in celloidin, serial sectioning in the horizontal plane at a groups. The line (called longline) was defined as the distance section thickness of 20 Hm, and staining of every 10th section between the synovial membranes
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