Prevalence of hearing loss in Rett syndrome

This study examined the auditory status of females with Rett syndrome (RS) using auditory brainstem response (ABR) testing and measures of acoustic admittance. Prevalence of hearing impairment in 81 female patients (age range 1 year 3 months to 39 years 8 months; mean age 8 years 7 months, SD 6 years 4 months) was evaluated with ABR measurements. If the ABR latencies at 20dB nHL exceeded those of the normative group, a slight hearing loss was diagnosed. For ABR thresholds in the range 30 to 40dB nHL, a mild hearing loss was determined; moderate hearing loss was diagnosed for ABR thresholds in the range 50 to 60dB nHL. Bilateral hearing loss was found in 16 (19.3%) patients and unilateral hearing loss in 13 (16%) patients. Bilateral hearing loss of moderate degree was found in one patient. No patient was found with severe hearing loss (ABR threshold of 70dB nHL and above) in either ear. Slight hearing loss was found in 10.5% of ears (17 of 162), mild hearing loss in 14.2% of ears(23 of 162), and moderate hearing loss in 3.1% of ears (5 of 162). In 72.2% of ears (117 of 162), findings indicated the presence of normal peripheral auditory sensitivity. Prevalence of sensorineural hearing loss was 17.3% (28 of 162). Evidence of conductive involvement (conductive and mixed hearing loss) was observed in 9.9% of ears (16 of 162). In this cross-sectional study, the prevalence of hearing loss was increased in older RS participants and in those with seizures requiring the use of anticonvulsants. Neither the type of hearing loss nor the presence of preserved speech seemed to be correlated with the type of mutation in methyl-CpG-binding protein 2 (MeCP2) gene that is associated with RS.     

Meningitis-related hearing loss evaluated with evoked potentials

Sixty-seven children with meningitis, ranging in age from 1 month to 14 years, were studied using brainstem auditory evoked potentials. Abnormal results were present in 60% of the subjects. Serial studies were obtained in 30% of the abnormal patients, 75% of whom demonstrated continued abnormalities on subsequent examination. Abnormal studies were found only in those patients who were 6 years of age or younger. The most prominent finding was an increased interwave interval resulting from increased wave V latencies. Additional abnormalities included an increased slope of the latency-intensity function suggestive of sensory-neural hearing loss. These studies clearly indicate the significance of early detection by the use of evoked potentials in the early diagnosis of hearing disorders in children with meningitis.     

Cochlear origin of hearing loss in MELAS syndrome

There have been few studies investigating the mechanism and nature of the hearing loss that occurs in the mitochondrial disorders. We studied 18 patients with the MELAS A3243G point mutation from four different kindreds. Pure tone audiometry, speech discrimination testing, acoustic reflexes, tympanometry, and brain stem auditory evoked responses were performed to localize the site of pathology in the auditory pathways. In 12 patients, we performed electrocochleography and otoacoustic emissions to assess cochlear involvement. Neuroimaging and promontory nerve stimulation were performed to exclude retrocochlear pathology. Audiological testing confirmed sensorineural hearing loss in 14 of the 18 patients studied; hearing loss was usually gradual in onset, was symmetrical, and initially affected the higher frequencies. In some patients, there were features that distinguished the hearing loss from presbyacusis, including a young age at onset, asymmetrical involvement, stepwise progression, and partial recovery. We treated one patient who had profound bilateral hearing loss with cochlear implantion; this restored good functional hearing. Hearing loss in MELAS syndrome appears to be due to dysfunction of the cochlea, probably resultiong from metabolic failure of the stria vascularis and outer hair cells. Cochlear implantation is a therapeutic option worth considering in those patients who become deaf.     

Facioscapulohumeral muscular dystrophy: hearing loss and other atypical features of patients with large 4q35 deletions

Background and purpose: Patients affected by facioscapulohumeral muscular dystrophy (FSHD) with unusual large 4q35 deletions tend to present atypical features in early childhood. We explored the clinical presentation of patients with a very short 4q35 fragment (10–13 kb) focusing on hearing loss, a still debated FSHD extramuscular manifestation. Patients and methods: We evaluated six cases with EcoRI 4q35 fragment size ranging from 10 to 13 kb. Assessment of hearing function was carried out by otoscopy, audiometry and auditory‐evoked brainstem responses (ABR). Patient data were compared with those of 28 similar subjects reported in the literature. Results: Sensorineural hearing loss was found in four patients, who presented infantile‐onset dystrophic phenotype. Hearing loss was associated with mental retardation in three of them and with epilepsy in two. Auditory ability of the other two cases was mildly impaired. If findings related to 28 similar cases reported to date are also considered, auditory impairment appears evident in 68% of these subjects. Conclusions: Hearing loss represents a characteristic feature of FSHD patients with a large 4q35 deletion. Moreover, when considering only cases with 10–11 kb, it appears to be associated with early‐onset dystrophic phenotype, with mental retardation (92%) and possibly with epilepsy (58%).     

Inaugural audiovisual impairment disclosing specific neurological disorders

The association of visual and auditory impairments, simultaneously or consecutively, is a rare condition at the onset of neurological diseases. To determine whether audiovisual impairment can be associated with a specific group of neurological disorders at onset, we performed a prospective study of 307 patients over 6 months in a specialized neurological unit in inflammatory diseases. Six patients (2%) experienced inaugural audiovisual impairments. The mean age of patients at onset was 39.5 ± 14.7 years, with a male:female ratio of 1:2. Both deficiencies were reported in three cases, including loss of visual acuity with tinnitus (two cases) or hearing loss (one case). Initial visual dysfunction, characterised by loss of visual acuity, was noted in one patient. Initial auditory impairment, characterised by dizziness and hearing loss, was noted in two patients. The mean interval between the occurrence of visual and auditory impairments was 3.8 ± 4.3 months. A neurological diagnosis was made in four cases (67%) at a mean time of 4.6 ± 4.6 months after disease onset. Visual impairments were optic neuritis for multiple sclerosis, serous retinal detachment for Vogt-Koyanagi-Harada's disease, a central retinal artery occlusion for Susac's syndrome and a retinal vasculitis for Cogan's syndrome. The systematic investigation of inaugural audiovisual impairment in young patients could help shorten the time to a specific neurological diagnosis.     

Evaluating geriatric medical outpatients with the Beck Depression Inventory-Fastscreen for medical patients

To ascertain how effective the seven-item Beck Depression Inventory-FastScreen for medical patients (BDI-FS) was in screening geriatric (> 55 years old) patients for depression, the BDI-FS and the 15-item Geriatric Depression Scale (GDS-S) were administered to 33 (44%) male and 42 (56%) female outpatients who were scheduled for routine office visits by physicians specializing in geriatric medicine. The internal consistency of the BDI-FS was high (coefficient alpha = 0.83), and it was positively correlated with the GDS-S, r = 0.81, p < 0.001. The BDI-FS scores were not related to sex, age, ethnicity, or type of medical diagnosis, but were positively correlated with a diagnosis of depression (r = 0.49, p < 0.001) and being prescribed an antidepressant (r = 0.55, p < 0.001). A BDI-FS cut-off score of four and above had 100% sensitivity and 84% specificity rates, respectively, for identifying patients who were and were not diagnosed with depression.     

Facioscapulohumeral muscular dystrophy (FSH) and hearing loss

It has been reported that cochlea is the lesion of hearing loss in FSH. However, the details of this lesion are not yet sufficiently known. We performed detailed audiologic studies to examine hearing loss in FSH. We experienced 2 cases of FSH associated with hearing loss. Case 1 was a girl aged 5 years, and case 2 a boy aged 15 years. Clinical findings, EMG and muscle biopsy gave a diagnosis of FSH in both cases. Hearing loss was evaluated by pure tone audiography, speech audiography, tympanometry, stapedial reflex, auditory brain stem response and electrocochleography. In case 1, pure tone audiograms revealed high tone hearing loss without an A-B gap. On speech audiography, the maximum articulation score was 100% and proved normal. The tympanogram was type A. Stapedial reflex was normal bilaterally. The threshold of the 5th wave increased markedly on auditory brain stem response. On electrocochleography, the H-curve of the input-output function curves of action potential was recorded, but the L-curve was absent. There were no complaints of hearing loss in case 2, but pure tone audiograms revealed high-tone hearing loss without an A-B gap. The tympanogram was type A. Stapedial reflex was normal bilaterally. On auditory brain stem response, threshold was increased and latency was prolonged when intensity was lowered. The electrocochleograms were almost normal. It has been reported that, in electrocochleography, the L-curve represents the function of the outer hair cells and the H-curve that of the inner hair cells. The electrocochleograms in case 1 showed damage to the outer hair cells.(ABSTRACT TRUNCATED AT 250 WORDS)     

Cross-modal plasticity in deaf subjects dependent on the extent of hearing loss

Cross-modal plasticity in deaf subjects is still discussed controversial. We tried to figure out whether the plasticity is dependent on the extent of hearing loss. Three groups of volunteers, comprising twelve individuals each, were investigated. They were characterized by three distinctive features, one had normal hearing, the other one lost hearing and the third had only minimal residual hearing ability. All participants, except those of group one, were capable of using German Sign Language (GSL). The groups were studied with functional MRI in a standard block design during individuals' watching sign language videos alternating with black frame. During sign language conditions, deaf subjects revealed a significant activation of the auditory cortex in both hemispheres comprising Brodmann areas (BA) 42 and 22 corresponding to the secondary associative auditory areas. Additionally, activation of the angular and supramarginal gyrus was seen. Activation of the primary auditory cortex was revealed in deaf subjects with total hearing loss during sign language tasks but not in subjects with residual hearing ability. In conclusion our results indicate a cortical reorganization of the auditory cortex comprising primary auditory fields only present in subjects with total hearing loss.     

Neural correlates of listening effort related factors: Influence of age and hearing impairment

In the last years, there has been a rising interest to find an objective method to estimate listening effort. Previously, we have shown that the wavelet phase synchronization stability (WPSS), gained from the instantaneous phase of auditory late responses (ALRs), could serve as a feasible measure for listening effort related factors.In the current study, we examined if the WPSS reflects the listening effort in young as well as middle-aged subjects and in persons with a different degree of hearing loss. To evoke ALR sequences, we generated syllabic paradigms with a different level of difficulty to evoke ALR sequences. We expected, due to the varying task demand, that the subjects require a measurable difference in the amount of effort to solve the paradigms. Additionally, a possible age and/or hearing loss related effect on the neural correlates of listening effort was investigated.The results indicate, that WPSS reflects the listening effort related factors needed to solve an auditory task. A further finding was that the reaction time data and the N1 wave amplitude information hardly yield any correlate of the invested listening effort. In addition, we noticed an age as well as hearing sensitivity related effect on the listening effort.     

Prevalence of visual and hearing impairment in a Dutch institutionalized population with intellectual disability

A screening of hearing and visual function was performed using clinical assessment methods in a Dutch institutionalized population of 672 people with mild to profound intellectual disability (ID). Because the studied population was not comparable to the total Dutch population with ID, subgroups were distinguished according to level of ID, age younger and older than 50 years, and the presence or absence of Down's syndrome (DS). The prevalences of both hearing and visual impairment were considerably increased in all subgroups, as compared with the general population. In the least affected group, i.e. those < 50 years with a mild or moderate ID by other causes than DS, the prevalences of hearing and visual impairment were 21% and 4%, respectively (as opposed to 2–7% and 0.2–1.9% in the general Dutch population <50 years, respectively). The prevalence of hearing impairment showed a sharp and highly significant increase in individuals with DS and subjects ≥ 50 years. To a lesser extent, young adults with severe or profound ID had an increased risk of hearing impairment. Visual impairment and blindness were specifically highly prevalent in people with severe or profound ID (51% < 50 years of age). Down's syndrome and an age ≥ 50 years were also significant risk factors for visual impairment. There was an alarmingly high prevalence of combined sensory impairment, especially in those with severe or profound ID (20%). Although hearing impairment had been diagnosed prior to this screen in 138 people and visual impairment in 65 individuals, a first diagnosis of hearing impairment was made in 128 subjects and of visual impairment in 90 cases. This highlights the tendency for sensory impairments to go unnoticed in people with ID, which is not restricted to those with severe or profound ID. Therefore, the present authors stress the importance of regular screening as outlined in the existing IASSID international consensus statement.     

Psychiatric comorbidity in patients with spasmodic torticollis

Several studies have reported raised levels of psychopathology based on self-rating scales in patients with spasmodic torticollis. Recent publications have also proposed that psychopathology, especially symptoms of depression, might be a reaction to dystonia or constitute a nonspecific reaction pattern. To determine the actual frequency of psychiatric disorders, we evaluated 44 patients with spasmodic torticollis (20 female, 24 male; mean age 43.6 years, sd 10.4) using the standard instrument for psychiatric diagnosis in the DSM-III-R (Structured Clinical Interview Schedule, SCID). The SCID permits retrospective diagnosis for most of the major psychiatric disorders, including the time before onset of dystonia. SCID criteria for at least one psychiatric disorder were fulfilled in 65.9% of patients, including both lifetime and current diagnosis. The most frequent diagnostic categories were panic disorder with or without agoraphobia (29.5%), major depressive disorder (25%), substance abuse (13.6%), and obsessive compulsive disorders (6.8%) were diagnosed less frequently. The patient-recalled onset of psychiatric symptoms preceded onset of torticollis symptoms in 43.2% of those investigated.     

Correlates of mental health disorders among children with hearing impairments

Aim  The aim of this study was to elucidate factors related to the high rate of mental health disorders seen in those with impaired hearing, including social factors and audiological measures.
Method  A representative sample of 95 pupils (47 females, 48 males; mean age 11y 1mo, range 6y 5mo to 16y, SD 2y 7mo) with hearing impairments of at least 40dB and normal non-verbal intelligence (IQ 97.5, SD 19.5), was assessed audiologically and with a structured clinical interview giving both current and lifetime diagnoses, and the Strengths and Difficulties Questionnaire. Detailed social information was gathered from parents and teachers.
Results  Point and lifetime prevalence rates for any psychiatric disorder (32.6%; 45.3%) and depression (7.4%; 26.3%) were higher than in general population samples and not related to the degree of hearing loss. There was a relation between having a lifetime diagnosis and the child's ability to be understood within the family (25.6% vs 7.7%, odds ratio 4.12 [1.2–14.1], p= 0.02). Internalizing mental health disorders were between three and six times more likely in those who had been teased, maltreated by classmates, or isolated.
Interpretation  We conclude that the increased risk of depression in those who have been teased, isolated, or maltreated is not peculiar to deafness, but the ability to make oneself understood is, and is modestly related ( r =0.22–0.34) to the probability of these adverse experiences.     

Progressive sensorineural hearing loss in childhood

A progressive sensorineural hearing loss in childhood, with an extremely variable prevalence (from 4% to 30%), has been reported in the literature. This wide range of reported figures could depend on the different criteria used for identifying the deterioration, the groups, and the examined age ranges. The most frequent etiology of progressive sensorineural hearing loss in childhood includes hereditary causes, both syndromic and nonsyndromic, and developmental and infectious causes, whereas metabolic, toxic, autoimmune, traumatic, and vascular etiologies are less common; however, the origin of the hearing impairment often remains unknown. The population for this study consisted of 178 children with bilateral sensorineural hearing loss who were examined between 1971 and 1993 using audiologic tests. Syndromal genetic hearing loss was excluded from the study. A progressive loss of acuity was found in 11 subjects, with a prevalence of 6.2%. The etiology was hereditary deafness in five patients, congenital infection in one, and congenital inner ear anomaly in another patient; in the last four children the etiology was unknown. Onset of deterioration was after 4 years of age in 73% of the patients. The progressive evolution was binaural in almost all patients (10 of 11) and asymmetric in most, with a tendency to a greater deterioration at the frequencies initially least affected.     

Auditory event related potentials in children with peripheral hearing loss

ObjectiveThe aim of the study was to investigate the neurophysiological responses in children with hearing loss.MethodsCortical auditory evoked potentials and Mismatch Negativity (MMN) Responses were recorded in 40 children, 9–12 years old: 12 with hearing loss, 12 with central auditory processing disorder (CAPD) and 16 with normal hearing. Passive oddball paradigms were used with nonverbal and verbal stimuli.ResultsFor P1, no significant group differences were observed. A significant reduction in N2 amplitude with all stimuli was observed in the group of children with hearing loss compared to the results of those with normal hearing. N2 results did not reveal any significant differences between the group of children with hearing loss and the children with CAPD. MMN amplitude indicated a trend toward larger MMN amplitude among the group of children with hearing loss compared to the value of those of children with CAPD.ConclusionsAbnormal N2 characteristics could be a manifestation of a specific signature in children with hearing loss. This cortical response could be considered as a neurophysiologic marker of central auditory processing deficits in these children.SignificanceResults suggest maturational delays and/or deficits in central auditory processing in children with hearing loss.     

Geropsychiatric consultation in a general hospital in Taiwan

The aim of this study was to characterize clinically significant issues in a psychiatric consultation service for geriatric inpatients in a general hospital in Taiwan. This was a case-control study. During a 5-month period, 100 geriatric (age > or =65 years) inpatients consecutively referred for consultation-liaison psychiatric service from non-psychiatric departments formed the study group. Another 100 medical inpatients, also referred for consultation-liaison to the psychiatric service, but aged 17-50, formed the control (non-geriatric) group. The diagnosis, demography, reason for referral, symptomatology, and other clinical characteristics were determined by consensus between two psychiatrists. Psychiatric diagnosis was made according to criteria in the 4th edition of the Diagnostic and Statistical Manual of Mental Disorders. The geropsychiatric consultation rate was 0.9%. Geriatric patients constituted 20.1% of all psychiatric referrals. Common reasons for referral of geriatric inpatients were confusion (32%), depression (17%), disturbing behaviors (14%), and psychosis (14%). The most common psychiatric disorder among geriatric patients was an organic mental disorder (79%), followed by a depressive disorder (13%). More geriatric patients suffered from cancers and cerebrovascular diseases than non-geriatric patients. The geriatric group was more likely to have multiple physical illnesses. Organic mental disorder and depressive disorders are the most common psychiatric diagnoses in the geropsychiatric consultation service of the authors. In the authors' experience, both psychotropic medication treatment and psychosocial intervention are important in geropsychiatric consultation.     

Bilateral profound hearing loss due to meningeal carcinomatosis.

Meningeal carcinomatosis (MC) is an uncommon form of metastasis of solid tumors. Hearing loss as the presenting symptom of MC is very uncommon. A patient with an esophageal signet ring cell carcinoma 3 years previously presented with sudden onset of profound hearing loss affecting both ears. He had no evidence of local tumor recurrence. Brain magnetic resonance imaging (MRI) showed swelling and increased signal intensity on T2 weighted images of both acoustic nerves and the right trigeminal nerve. After gadolinium administration, enhancement of both acoustic and trigeminal nerves was seen. He later developed unsteadiness and head-movement-dependent oscillopsia due to vestibular areflexia and diplopia. At that time MRI showed leptomeningeal enhancement. MC was diagnosed, although cerebrospinal fluid cytology could not confirm that diagnosis. The patient died 16 weeks after the onset of deafness. In patients with progressive unilateral and bilateral hearing loss, meningeal carcinomatosis should be considered, especially if there is a history of previous malignancy.     

Sociodemographic and clinical predictors of mortality in geriatric depression.

OBJECTIVE: It is well documented that depression and early mortality are related, and current research suggests that depression may influence vascular causes of death. The authors report on prospectively observed mortality in elderly depressed patients, comparing differences in sex and vascular risk. METHODS: The subjects were 338 patients with unipolar major depression; patients with neurological or other psychiatric disorders were excluded. All subjects received a clinical evaluation and a standardized interview to establish DSM-III depression diagnosis. The cohort had a mean age of 67.2 years and was followed up at approximately 10 years from last contact. RESULTS: Mortality was associated with older age, older age at depression onset, and being male. Also, in men, mortality was associated with higher baseline CES-D scores, and, in women, with having a higher vascular risk rating or late age at depression onset. CONCLUSION: This is the first study demonstrating a gender-by-vascular condition interaction effect on mortality. Women with vascular risk factors may require closer follow-up to control vascular conditions. The relationship between greater depression and increased mortality risk among men is interesting, and further studies will be required to replicate and understand it.     

Association of APOE genetic polymorphism with cognitive function and suicide history in geriatric depression

Apolipoprotein E (APOE) has been associated with a variety of late-life neuropsychiatric disorders, including geriatric depression. This study determined whether APOE genotypes affect vulnerability to geriatric depression. We also tested the effect of the presence of the APOE epsilon4 (APOE4) allele on age of onset, suicide attempt history and cognitive function in geriatric depressed patients. We genotyped APOE in 111 elderly inpatients diagnosed as having major depression and 144 normal controls. The depressed patients were evaluated at baseline using the Hamilton Rating Scale for Depression and the Mini-Mental State Examination (MMSE) after admission. Age of onset of depression and suicide attempt history in the depressed group were evaluated by interview and medical record. We found no association between APOE genotypes and geriatric depression (p = 0.342) or APOE4 status and age of onset of depression (p = 0.281). However, compared with depressed subjects lacking the APOE epsilon4 allele, depressed subjects who were also APOE4 carriers showed significantly lower MMSE scores (p = 0.021) and an increased suicide attempt history (p = 0.012). The APOE genotype may contribute to cognitive performance and suicidality in geriatric depression, rather than being a specific risk factor for the disorder.     

Children of depressed parents. Increased psychopathology and early onset of major depression

Data on the psychiatric diagnosis, overall functioning, and treatment of 220 6- to 23-year-old subjects who were at high or low risk for major depression are presented. The subjects' diagnoses were made by a child psychiatrist based on best-estimate evaluation of diagnostic information derived from structured interviews (Schedule for Affective Disorders and Schizophrenia for School-Aged Children, Epidemiologic Version) with the subjects and separately with their mothers about their children. The major findings were an increased overall prevalence of major depression and substance abuse, psychiatric treatment, poor social functioning, and school problems in the children of depressed proband parents compared with children of normal proband parents. Overall prepubertal depression was uncommon and the sex ratios were equal. After 12 years of age, there was an increasing preponderance of female subjects in the group with major depression. The mean age at onset of major depression was similar for male and female subjects. However, it was significantly earlier in the children of depressed probands (mean age at onset, 12 to 13 years) compared with the children of normal probands (mean age at onset, 16 to 17 years). Symptom profiles and additional types of diagnoses in the depressed children from either proband parent group did not differ. These children are being followed up longitudinally to determine the prognostic significance, persistence, recurrence, and recall of their symptoms. Several research and clinical strategies are suggested by these data.     

Combined hearing and visual impairment and depression in a population aged 75 years and older

BACKGROUND: Depression is associated with both visual and hearing impairment. Little is known about the relationship between combined hearing and visual impairment and mood in this age group. The aim of this population-based study was to investigate the association between functional sensory impairment, especially combined sensory impairment and depressive symptoms and depression diagnosed according to the DSM-IV criteria. METHOD: The study group consisted of 470 adults, population-based sample, aged 75 years or older. We used the Snellen eye charts with E-letters and reading charts to evaluate the functional visual acuity. The ability to conduct a face-to-face conversation, the hearing aid use and the self-reported hearing problems were used to assess the functional hearing acuity. Depression was identified with two different methods. A geriatrician interviewed the subjects and the DSM-IV checklist was used to determine whether they met the criteria for major depression. The Zung Depression Status Inventory (DSI) was used to identify depressive symptoms. The cut off points of 40/80 and 48/80 in the DSI-score was used. RESULTS: Seventy-two persons (15%) of the study population had depression diagnosed according to the DSM-IV criteria. Twelve per cent of subjects in the Functional Hearing Impairment (FHI) group, twenty per cent in the Functional Visual Impairment (FVI) group, eighteen per cent in the Combined Sensory Impairment (CSI) group and fifteen per cent in the Adequate Sensory Function (ASF) group suffered major depression. The differences between these groups were insignificant. The occurrence rates of the DSI score equal or over 40 points was 50% in the FHI group, 53% in the FVI group, 70% in the CSI group and 45% in the ASF group. The difference between the ASF group and sensory impairment group including FHI, FVI and CSI groups was statistically significant (p = 0.03). CONCLUSIONS: Depressive symptoms, but not major depression, were common if elderly persons had combined sensory impairment.