Journal of Speech, Language, and Hearing Research, 2007
To compare the effects of speech presentation level on acceptance of noise in listeners with norm... more To compare the effects of speech presentation level on acceptance of noise in listeners with normal and impaired hearing. Participants were listeners with normal (n = 24) and impaired (n = 46) hearing who were matched for conventional acceptable noise level (ANL). ANL was then measured at 8 fixed speech presentation levels (40, 45, 50, 55, 60, 65, 70, and 75 dB HL) to determine if global ANL (i.e., ANL averaged across speech presentation levels) or ANL growth (i.e., the slope of the ANL function) varied between groups. The effects of speech presentation level on acceptance of noise were evaluated using global ANLs and ANL growth. Results showed global ANL and ANL growth were not significantly different for listeners with normal and impaired hearing, and neither ANL measure was related to pure-tone average for listeners with impaired hearing. Additionally, conventional ANLs were significantly correlated with both global ANLs and ANL growth for all listeners. These results indicate that the effects of speech presentation level on acceptance of noise are not related to hearing sensitivity. These results further indicate that a listener's conventional ANL was related to his or her global ANL and ANL growth.
Journal of the American Academy of Audiology, 2005
Available data indicate that, on some auditory tasks, individuals with attention deficit/hyperact... more Available data indicate that, on some auditory tasks, individuals with attention deficit/hyperactivity disorder (ADHD/ADD) perform more poorly than individuals without ADHD/ADD. Research also indicates that performance may improve with the use of stimulant medication. The present study (1) examined the effect of stimulant medication on acceptance of background noise in individuals with ADHD/ADD and (2) investigated the dependence of speech presentation level on acceptance of noise in persons with ADHD/ADD. Fifteen normal hearing female college students with ADHD/ADD served as the participants. The participants were medicated in one session and unmedicated in the other session. Results showed that medication significantly increased the acceptance of background noise for individuals with ADHD/ADD. Results also indicated that acceptance of noise depends on speech presentation level, but the improvement in acceptance of noise was not dependent on medication.
Placement of the Xomed Audiant implantable bone conduction hearing prosthesis was initially restr... more Placement of the Xomed Audiant implantable bone conduction hearing prosthesis was initially restricted to a limited number of investigators. It was introduced to other otolaryngologists in a workshop on August 15-16, 1986. There have since been several workshops offered by Xomed and Dr. Hough, who developed the device, to train otolaryngologists how to implant this device. The literature thus far is limited to the experience of Hough and others involved with his initial trials. He has not reported any significant complications associated with this device. The purpose of this paper is to communicate a complication resulting from the use of this device. Skin ulceration over the implant resulted from excessive use of the hearing prosthesis within 2 weeks of the initial fitting. Other contributing factors in the breakdown of skin will be discussed along with suggestions regarding prevention.
Parents of 28 children and a young adult with CHARGE syndrome participated in a survey on factors... more Parents of 28 children and a young adult with CHARGE syndrome participated in a survey on factors related to communication development. Information was obtained using a questionnaire and a follow-up interview. Parents were asked to (1) specify their child's primary mode of communication, (2) judge the significance of the effects of physical disorders, sensory deficits, and behavior on development and communication, (3) provide lists of their child's conditions and disorders, and (4) provide information about intervention related to communication and education. Thirtynine percent of the participants (11/28) did not use symbolic language to communicate. The results suggest that factors affecting the majority of participants-physical disorders, vision loss, and hearing loss-may adversely affect communication ability. However, these factors did not preclude the development of symbolic language. Factors that were related to the development of symbolic language were success in the treatment of hearing loss with amplification, the ability to walk independently, and communication training initiated by 3 years of age. Other factors that may be related to the development of symbolic language are also discussed. ß 2005 Wiley-Liss, Inc.
To determine whether information beyond 2.0 kHz affected the acceptance of background noise in li... more To determine whether information beyond 2.0 kHz affected the acceptance of background noise in listeners with normal and/or impaired hearing. Speech stimuli (Arizona Travelogue) and multitalker babble were low-pass filtered at cutoff frequencies of 2.0, 4.0, and 6.0 kHz and presented using an adaptive paradigm to determine the most comfortable level (MCL) and acceptable noise level (ANL) for 4 experimental conditions (unfiltered, 2.0, 4.0, and 6.0 kHz) for each listener. MCL for listening to speech in quiet was significantly increased when the speech stimuli were low-pass filtered at 2.0 kHz relative to the unfiltered and 6.0-kHz conditions. Acceptance of background noise was significantly poorer when the speech and noise stimuli were low-pass filtered at 2.0 kHz relative to the 6.0-kHz condition. Listeners with impaired hearing sensitivity had significantly greater MCL values than listeners with normal hearing, but ANL values were not significantly affected by the hearing sensitivity of the listener. Information beyond 2.0 kHz significantly affected MCL and ANL values in both listeners with normal hearing and impaired hearing; however, effects for both the MCL and ANL measurements were small and may not be significant clinically.
This report describes an adult male with a partial trisomy 6p(p211-pter) and a partial monosomy 9... more This report describes an adult male with a partial trisomy 6p(p211-pter) and a partial monosomy 9p(9p24-pter) resulting from a de novo unbalanced translocation. This patient does not show the classical featured of the 9p partial monosomy syndrome, thus disputing the claim of Hoo et al. (1982) that 9p24 is the critical segment for the monosomy syndrome. Partial trisomy for 6p has only been previously reported in children. In addition to the chromosomal anomalies, the patient has autosomal recessive spinal muscular atrophy with a different age of onset than two affected sibs. Finally, he shows unusual audiologic and ophthalmologic signs nor previously reported as part of the 9p monosomy or 6p trisomy syndromes.
A mixed bilateral hearing loss is described in a child with classical Larsen syndrome. The presen... more A mixed bilateral hearing loss is described in a child with classical Larsen syndrome. The presence of a residual conductive loss after successful placement of ventilating tubes suggests that the conductive loss is due to an ossicular abnormality. In Larsen syndrome, characterized by multiple joint dislocations and bony malformations, the ossicular joints may also be affected.
Page 1. Journal of Educational Audiology 7 (1999) 34 Audiologic and Educational Issues in CHARGE ... more Page 1. Journal of Educational Audiology 7 (1999) 34 Audiologic and Educational Issues in CHARGE Syndrome ... Page 3. Journal of Educational Audiology 7 (1999) 36 Issues related to development Determination of intellectual ability. ...
Farmers are exposed to noise that is potentially hazardous to hearing. We measured the hearing of... more Farmers are exposed to noise that is potentially hazardous to hearing. We measured the hearing of 161 male farmers and 75 male nonfarmers at the 1979 Missouri Farmers Association Agri-Fair and compared it with the hearing of 129 office workers from central Missouri. Fixed-level screening tests were conducted in both ears at three stimulus frequencies: 1000 and 2000 hertz at 20 decibels hearing level and 4000 hertz at 25 decibels hearing level. Audiometers were calibrated in accordance with the ANSI-1969 standard. The results show that farmers are at risk for hearing loss at 2000 and 4000 hertz when compared with office workers. The prevalence of hearing loss was greater for farmers at both frequencies in every decade age group from 25 to 64 years. Using screening failure at 2000 and 4000 hertz in both ears as a criterion for a loss that would affect communication ability, we found that the failure rate was 16.8 percent for farmers and 6.2 percent for office workers. As other investigators have found, the prevalence of high-frequency hearing loss in male nonfarmers who associate with farmers was nearly as great as for farmers.
In the measurement of hearing, a masking dilemma is a situation in which it is not possible to us... more In the measurement of hearing, a masking dilemma is a situation in which it is not possible to use masking to determine if the signal is crossing the head and activating the opposite cochlea. A nonmasking procedure, called the earplug procedure, was developed to rule out crossover for air-conducted signals in patients with a masking dilemma. In the procedure, an earplug is inserted in the suspect ear in an attempt to increase the loss in that ear. If the loss is increased significantly, then thresholds were obtained from the test ear and crossover is ruled out. If there was no significant threshold shift with the earplug, crossover is not ruled out and the uncertainty remains. Threshold shift criteria were developed for five test frequencies and for single test frequencies. The procedure correctly rules out crossover for a majority of unmaskable ears.
Eight audiology students with little or no visual reinforcement audiometry (VRA) experience each ... more Eight audiology students with little or no visual reinforcement audiometry (VRA) experience each performed a VRA test on an infant. Four of the students received approximately 5 hours of behavioral audiometry simulator (BAS) training, and 1 week later, after the first VRA test, all eight students tested a second infant. Student performance was rated by three audiologists who were experienced in performing VRA with infants. The performance of the group that received BAS training improved significantly while the performance of the control group did not. Among the students who received BAS training, those who improved the most during stimulated testing also showed the greatest improvement in VRA with real infants.
The purpose of this study was to determine whether telephone communication was improved with elec... more The purpose of this study was to determine whether telephone communication was improved with electromagnetic coupling for in-the-ear hearing aid users with mild to moderate hearing losses. Each user adjusted his hearing aid gain to the level he determined to be best for telephone communication with each coupling method. Under these conditions, average word recognition scores in quiet and average high-frequency output levels measured at the tympanic membrane were not different for each coupling method. The ability to tolerate background noise was also studied. Background noise tolerance was not different for the two coupling methods. However, significantly greater levels of background noise were tolerated when telephone side-tone feedback was eliminated regardless of coupling method.
Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery, 1984
Although the majority of patients receiving erythromycin experience no hearing loss, certain pati... more Although the majority of patients receiving erythromycin experience no hearing loss, certain patients are susceptible. Erythromycin ototoxicity data were analyzed on 20 patients from 13 reports in the English language literature as well as on two patients from the University of Missouri-Columbia. Patients were classified with respect to age, sex, premorbid diagnosis, renal/hepatic function, type of erythromycin used, dosage, duration of therapy, and route of administration. The following auditory effects were considered: onset of symptoms, degree and configuration of hearing loss, and recovery of hearing. The factors which, when combined with the use of high-dose erythromycin (greater than or equal to 2 gm/day), might place patients at risk for erythromycin ototoxicity are preexisting renal or hepatic disease, age (elderly), and perhaps being female. With knowledge of the predisposing factors and auditory effects, the clinician can more easily recognize hearing loss caused by erythr...
International journal of pediatric otorhinolaryngology, 1986
Ear anomalies and hearing loss are major components of CHARGE Syndrome. This paper describes the ... more Ear anomalies and hearing loss are major components of CHARGE Syndrome. This paper describes the external ear anomalies found in this syndrome: short wide pinnae, often cupped and asymmetrical; distinctive triangular concha; discontinuity between the antihelix and antitragus; and 'snipped-off' portions of the helical folds. The patterns of anomalies are so distinctive that a preliminary diagnosis of CHARGE Syndrome can often be made on the basis of ear shape alone. Part II of this communication describes hearing loss in this syndrome.
International Journal of Pediatric Otorhinolaryngology, 1979
The effect of middleear dysfunction and disease on hearing and language development at one year o... more The effect of middleear dysfunction and disease on hearing and language development at one year of age was evaluated for 143 high-risk infants. These infants were categorized as normal or abnormal based on otologic history, otoscopic examinations, and on tympanometric examinations. Language was significantly related to gestational age, being delayed by approximately the amount of prematurity. Language scores were therefore adjusted for gestational age. Speech-detection threshold was not related to gestational age, and was used as the measure of hearing. Hearing levels were negatively correlated with adjusted language quotients.
International Journal of Pediatric Otorhinolaryngology, 1986
CHARGE is a mnemonic for a syndrome with multiple congenital anomalies that occurs with normal ch... more CHARGE is a mnemonic for a syndrome with multiple congenital anomalies that occurs with normal chromosomes. The unique external ear anomalies have been described in CHARGE Syndrome Part I in this journal. This report describes the distinctive middle ear and sensorineural losses that occur in the syndrome, both of which can be progressive and, in most cases, are moderate to severe. There is evidence to indicate that these losses are due to congenital ossicular anomalies, eustachian tube dysfunction from craniofacial malformation, and cochlear involvement that is greatest for high frequencies.
We had the opportunity to examine eight individuals in four generations of a family with dominant... more We had the opportunity to examine eight individuals in four generations of a family with dominant CHARGE association. In three generations there were five affected individuals. The 25-year old male proband had coloboma of the iris, retina and optic disc, mental retardation, hypogonadism, malformed ears, and mixed hearing loss. His 19-year old sister had colobomas of the retina, choroid, and disc, mental retardation and malformed ears. The mother of these two individuals had coloboma of the retina, choroid, and optic disc, dull mentality, and mixed hearing loss. The proband's maternal grandmother had peripapillary staphylomatous changes of the disc, mixed hearing loss, and malformed protruding ears. The proband's maternal uncle had mental retardation, hypogonadism, mixed hearing loss, protruding ears, but no colobomas. All of the affected individuals had a distinct configuration to the midface, including malar hypoplasia, prominent nasal columnella and a long nasal philtrum. The inheritance of the CHARGE association in this family would appear to be autosomal dominant. However, as the males have not reproduced, it is not possible to rule out X-linked dominant inheritance.
Journal of Speech, Language, and Hearing Research, 2007
To compare the effects of speech presentation level on acceptance of noise in listeners with norm... more To compare the effects of speech presentation level on acceptance of noise in listeners with normal and impaired hearing. Participants were listeners with normal (n = 24) and impaired (n = 46) hearing who were matched for conventional acceptable noise level (ANL). ANL was then measured at 8 fixed speech presentation levels (40, 45, 50, 55, 60, 65, 70, and 75 dB HL) to determine if global ANL (i.e., ANL averaged across speech presentation levels) or ANL growth (i.e., the slope of the ANL function) varied between groups. The effects of speech presentation level on acceptance of noise were evaluated using global ANLs and ANL growth. Results showed global ANL and ANL growth were not significantly different for listeners with normal and impaired hearing, and neither ANL measure was related to pure-tone average for listeners with impaired hearing. Additionally, conventional ANLs were significantly correlated with both global ANLs and ANL growth for all listeners. These results indicate that the effects of speech presentation level on acceptance of noise are not related to hearing sensitivity. These results further indicate that a listener's conventional ANL was related to his or her global ANL and ANL growth.
Journal of the American Academy of Audiology, 2005
Available data indicate that, on some auditory tasks, individuals with attention deficit/hyperact... more Available data indicate that, on some auditory tasks, individuals with attention deficit/hyperactivity disorder (ADHD/ADD) perform more poorly than individuals without ADHD/ADD. Research also indicates that performance may improve with the use of stimulant medication. The present study (1) examined the effect of stimulant medication on acceptance of background noise in individuals with ADHD/ADD and (2) investigated the dependence of speech presentation level on acceptance of noise in persons with ADHD/ADD. Fifteen normal hearing female college students with ADHD/ADD served as the participants. The participants were medicated in one session and unmedicated in the other session. Results showed that medication significantly increased the acceptance of background noise for individuals with ADHD/ADD. Results also indicated that acceptance of noise depends on speech presentation level, but the improvement in acceptance of noise was not dependent on medication.
Placement of the Xomed Audiant implantable bone conduction hearing prosthesis was initially restr... more Placement of the Xomed Audiant implantable bone conduction hearing prosthesis was initially restricted to a limited number of investigators. It was introduced to other otolaryngologists in a workshop on August 15-16, 1986. There have since been several workshops offered by Xomed and Dr. Hough, who developed the device, to train otolaryngologists how to implant this device. The literature thus far is limited to the experience of Hough and others involved with his initial trials. He has not reported any significant complications associated with this device. The purpose of this paper is to communicate a complication resulting from the use of this device. Skin ulceration over the implant resulted from excessive use of the hearing prosthesis within 2 weeks of the initial fitting. Other contributing factors in the breakdown of skin will be discussed along with suggestions regarding prevention.
Parents of 28 children and a young adult with CHARGE syndrome participated in a survey on factors... more Parents of 28 children and a young adult with CHARGE syndrome participated in a survey on factors related to communication development. Information was obtained using a questionnaire and a follow-up interview. Parents were asked to (1) specify their child's primary mode of communication, (2) judge the significance of the effects of physical disorders, sensory deficits, and behavior on development and communication, (3) provide lists of their child's conditions and disorders, and (4) provide information about intervention related to communication and education. Thirtynine percent of the participants (11/28) did not use symbolic language to communicate. The results suggest that factors affecting the majority of participants-physical disorders, vision loss, and hearing loss-may adversely affect communication ability. However, these factors did not preclude the development of symbolic language. Factors that were related to the development of symbolic language were success in the treatment of hearing loss with amplification, the ability to walk independently, and communication training initiated by 3 years of age. Other factors that may be related to the development of symbolic language are also discussed. ß 2005 Wiley-Liss, Inc.
To determine whether information beyond 2.0 kHz affected the acceptance of background noise in li... more To determine whether information beyond 2.0 kHz affected the acceptance of background noise in listeners with normal and/or impaired hearing. Speech stimuli (Arizona Travelogue) and multitalker babble were low-pass filtered at cutoff frequencies of 2.0, 4.0, and 6.0 kHz and presented using an adaptive paradigm to determine the most comfortable level (MCL) and acceptable noise level (ANL) for 4 experimental conditions (unfiltered, 2.0, 4.0, and 6.0 kHz) for each listener. MCL for listening to speech in quiet was significantly increased when the speech stimuli were low-pass filtered at 2.0 kHz relative to the unfiltered and 6.0-kHz conditions. Acceptance of background noise was significantly poorer when the speech and noise stimuli were low-pass filtered at 2.0 kHz relative to the 6.0-kHz condition. Listeners with impaired hearing sensitivity had significantly greater MCL values than listeners with normal hearing, but ANL values were not significantly affected by the hearing sensitivity of the listener. Information beyond 2.0 kHz significantly affected MCL and ANL values in both listeners with normal hearing and impaired hearing; however, effects for both the MCL and ANL measurements were small and may not be significant clinically.
This report describes an adult male with a partial trisomy 6p(p211-pter) and a partial monosomy 9... more This report describes an adult male with a partial trisomy 6p(p211-pter) and a partial monosomy 9p(9p24-pter) resulting from a de novo unbalanced translocation. This patient does not show the classical featured of the 9p partial monosomy syndrome, thus disputing the claim of Hoo et al. (1982) that 9p24 is the critical segment for the monosomy syndrome. Partial trisomy for 6p has only been previously reported in children. In addition to the chromosomal anomalies, the patient has autosomal recessive spinal muscular atrophy with a different age of onset than two affected sibs. Finally, he shows unusual audiologic and ophthalmologic signs nor previously reported as part of the 9p monosomy or 6p trisomy syndromes.
A mixed bilateral hearing loss is described in a child with classical Larsen syndrome. The presen... more A mixed bilateral hearing loss is described in a child with classical Larsen syndrome. The presence of a residual conductive loss after successful placement of ventilating tubes suggests that the conductive loss is due to an ossicular abnormality. In Larsen syndrome, characterized by multiple joint dislocations and bony malformations, the ossicular joints may also be affected.
Page 1. Journal of Educational Audiology 7 (1999) 34 Audiologic and Educational Issues in CHARGE ... more Page 1. Journal of Educational Audiology 7 (1999) 34 Audiologic and Educational Issues in CHARGE Syndrome ... Page 3. Journal of Educational Audiology 7 (1999) 36 Issues related to development Determination of intellectual ability. ...
Farmers are exposed to noise that is potentially hazardous to hearing. We measured the hearing of... more Farmers are exposed to noise that is potentially hazardous to hearing. We measured the hearing of 161 male farmers and 75 male nonfarmers at the 1979 Missouri Farmers Association Agri-Fair and compared it with the hearing of 129 office workers from central Missouri. Fixed-level screening tests were conducted in both ears at three stimulus frequencies: 1000 and 2000 hertz at 20 decibels hearing level and 4000 hertz at 25 decibels hearing level. Audiometers were calibrated in accordance with the ANSI-1969 standard. The results show that farmers are at risk for hearing loss at 2000 and 4000 hertz when compared with office workers. The prevalence of hearing loss was greater for farmers at both frequencies in every decade age group from 25 to 64 years. Using screening failure at 2000 and 4000 hertz in both ears as a criterion for a loss that would affect communication ability, we found that the failure rate was 16.8 percent for farmers and 6.2 percent for office workers. As other investigators have found, the prevalence of high-frequency hearing loss in male nonfarmers who associate with farmers was nearly as great as for farmers.
In the measurement of hearing, a masking dilemma is a situation in which it is not possible to us... more In the measurement of hearing, a masking dilemma is a situation in which it is not possible to use masking to determine if the signal is crossing the head and activating the opposite cochlea. A nonmasking procedure, called the earplug procedure, was developed to rule out crossover for air-conducted signals in patients with a masking dilemma. In the procedure, an earplug is inserted in the suspect ear in an attempt to increase the loss in that ear. If the loss is increased significantly, then thresholds were obtained from the test ear and crossover is ruled out. If there was no significant threshold shift with the earplug, crossover is not ruled out and the uncertainty remains. Threshold shift criteria were developed for five test frequencies and for single test frequencies. The procedure correctly rules out crossover for a majority of unmaskable ears.
Eight audiology students with little or no visual reinforcement audiometry (VRA) experience each ... more Eight audiology students with little or no visual reinforcement audiometry (VRA) experience each performed a VRA test on an infant. Four of the students received approximately 5 hours of behavioral audiometry simulator (BAS) training, and 1 week later, after the first VRA test, all eight students tested a second infant. Student performance was rated by three audiologists who were experienced in performing VRA with infants. The performance of the group that received BAS training improved significantly while the performance of the control group did not. Among the students who received BAS training, those who improved the most during stimulated testing also showed the greatest improvement in VRA with real infants.
The purpose of this study was to determine whether telephone communication was improved with elec... more The purpose of this study was to determine whether telephone communication was improved with electromagnetic coupling for in-the-ear hearing aid users with mild to moderate hearing losses. Each user adjusted his hearing aid gain to the level he determined to be best for telephone communication with each coupling method. Under these conditions, average word recognition scores in quiet and average high-frequency output levels measured at the tympanic membrane were not different for each coupling method. The ability to tolerate background noise was also studied. Background noise tolerance was not different for the two coupling methods. However, significantly greater levels of background noise were tolerated when telephone side-tone feedback was eliminated regardless of coupling method.
Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery, 1984
Although the majority of patients receiving erythromycin experience no hearing loss, certain pati... more Although the majority of patients receiving erythromycin experience no hearing loss, certain patients are susceptible. Erythromycin ototoxicity data were analyzed on 20 patients from 13 reports in the English language literature as well as on two patients from the University of Missouri-Columbia. Patients were classified with respect to age, sex, premorbid diagnosis, renal/hepatic function, type of erythromycin used, dosage, duration of therapy, and route of administration. The following auditory effects were considered: onset of symptoms, degree and configuration of hearing loss, and recovery of hearing. The factors which, when combined with the use of high-dose erythromycin (greater than or equal to 2 gm/day), might place patients at risk for erythromycin ototoxicity are preexisting renal or hepatic disease, age (elderly), and perhaps being female. With knowledge of the predisposing factors and auditory effects, the clinician can more easily recognize hearing loss caused by erythr...
International journal of pediatric otorhinolaryngology, 1986
Ear anomalies and hearing loss are major components of CHARGE Syndrome. This paper describes the ... more Ear anomalies and hearing loss are major components of CHARGE Syndrome. This paper describes the external ear anomalies found in this syndrome: short wide pinnae, often cupped and asymmetrical; distinctive triangular concha; discontinuity between the antihelix and antitragus; and 'snipped-off' portions of the helical folds. The patterns of anomalies are so distinctive that a preliminary diagnosis of CHARGE Syndrome can often be made on the basis of ear shape alone. Part II of this communication describes hearing loss in this syndrome.
International Journal of Pediatric Otorhinolaryngology, 1979
The effect of middleear dysfunction and disease on hearing and language development at one year o... more The effect of middleear dysfunction and disease on hearing and language development at one year of age was evaluated for 143 high-risk infants. These infants were categorized as normal or abnormal based on otologic history, otoscopic examinations, and on tympanometric examinations. Language was significantly related to gestational age, being delayed by approximately the amount of prematurity. Language scores were therefore adjusted for gestational age. Speech-detection threshold was not related to gestational age, and was used as the measure of hearing. Hearing levels were negatively correlated with adjusted language quotients.
International Journal of Pediatric Otorhinolaryngology, 1986
CHARGE is a mnemonic for a syndrome with multiple congenital anomalies that occurs with normal ch... more CHARGE is a mnemonic for a syndrome with multiple congenital anomalies that occurs with normal chromosomes. The unique external ear anomalies have been described in CHARGE Syndrome Part I in this journal. This report describes the distinctive middle ear and sensorineural losses that occur in the syndrome, both of which can be progressive and, in most cases, are moderate to severe. There is evidence to indicate that these losses are due to congenital ossicular anomalies, eustachian tube dysfunction from craniofacial malformation, and cochlear involvement that is greatest for high frequencies.
We had the opportunity to examine eight individuals in four generations of a family with dominant... more We had the opportunity to examine eight individuals in four generations of a family with dominant CHARGE association. In three generations there were five affected individuals. The 25-year old male proband had coloboma of the iris, retina and optic disc, mental retardation, hypogonadism, malformed ears, and mixed hearing loss. His 19-year old sister had colobomas of the retina, choroid, and disc, mental retardation and malformed ears. The mother of these two individuals had coloboma of the retina, choroid, and optic disc, dull mentality, and mixed hearing loss. The proband's maternal grandmother had peripapillary staphylomatous changes of the disc, mixed hearing loss, and malformed protruding ears. The proband's maternal uncle had mental retardation, hypogonadism, mixed hearing loss, protruding ears, but no colobomas. All of the affected individuals had a distinct configuration to the midface, including malar hypoplasia, prominent nasal columnella and a long nasal philtrum. The inheritance of the CHARGE association in this family would appear to be autosomal dominant. However, as the males have not reproduced, it is not possible to rule out X-linked dominant inheritance.
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