Hearing loss in facioscapulohumeral dystrophy

Bilateral sloping high frequency hearing loss of 20–90 dB was found in six out of ten patients with infantile or adolescent onset FSHD. In all cases the basic defect could be traced to the cochlea. The outer hair cells of the basal turn are predominantly affected. In 20 patients with various other forms of muscular dystrophy or neuromuscular disorders with an FSH distribution, no sensorineural hearing loss was found. Myopathology of FSHD patients extended from mild to severe, often showing inflammatory infiltrates and type I fibre atrophy, without unequivocal differences between the two groups with and without hearing loss. It is concluded that cochlear dysfunction is a specific and frequenct phenomenon of early onset FSHD.Abbreviations FSH facioscapulohumeral - FSHD facioscapulohumeral dystrophy - MD muscular dystrophy - SISI short increment sensitivity index     

Nonsyndromic sensorineural deafness--analysis of etiology in relatives

We present the results of complex clinical examination of children affected with sensorineural hearing loss. The siblings (minimum two) were born from unaffected parents and came from twelve families. Molecular studies confirmed genetic background of hearing loss in 6 families and enabled identification of GJB2 mutations in investigated probants.     

Sensorineural hearing loss in primary antibody deficiency disorders

To evaluate the hearing function in patients affected by primary antibody deficiency disorders. Forty-seven patients, 25 of whom were affected by X-linked agammaglobulinemia and 22 of whom were affected by common variable immunodeficiency were evaluated with audiologic tests that included pure tone audiometry, acoustic immittance assessment and auditory brainstem-evoked response. Eighteen patients (38%), 7 with X-linked agammaglobulinemia and 11 with common variable immunodeficiency, showed sensorineural hearing loss, bilateral in 12 and unilateral in 6. Our data underline the high frequency of hearing loss in patients with antibody deficiency and suggest that a systematic audiologic evaluation should be part of the clinical care of these patients.     

Levy-Hollister syndrome

The Levy-Hollister syndrome is an autosomal dominant disorder characterized by lacrimal malformations, simple cup-shaped ears, hearing loss, hypodontia and enamel dysplasia, and upper limb malformations. Renal anomalies have been noted variably. Two families with this disorder have been described previously. Recently, a third family with the Levy-Hollister syndrome was evaluated. Unusual features present in this family included bilateral nasolacrimal duct fistulas, radial aplasia, and unusual dermal ridge patterns. Early recognition of this disorder should prompt investigation for renal anomalies and/or hearing loss. It should also lead to consideration of surgical attempts to correct the lacrimal abnormalities or conductive hearing loss, thereby reducing the long-term morbidity in affected patients.     

Mastoid abnormalities in down syndrome

Hearing loss and otitis media are commonly associated with Down syndrome. Hypoplasia of the mastoids is seen in many affected children and sclerosis of mastoid bones is not uncommon in Down syndrome. Awareness and early recognition of mastoid abnormality may lead to appropriate and timely therapy, thereby preserving the child’s hearing or compensating for hearing loss; factors which are important for learning and maximum development.     

Unexpected hearing loss in high-risk infants

Eleven high-risk infants who had normal auditory brainstem responses at the time of discharge from the neonatal intensive care unit were found on follow-up between 13 and 48 months later to have significant sensorineural hearing loss. All 11 infants were the products of high-risk pregnancies and deliveries. Birth weights ranged from 890 to 3,700 g, but seven had birth weights of more than 1,500 g. Gestational ages ranged from 28 to 42 weeks. The length of hospitalization ranged from 45 to 167 days. All of the infants had respiratory distress, requiring prolonged mechanical ventilation with resultant chronic lung disease. All of the infants had received pancuronium, morphine, ampicillin, and gentamicin, and ten had also received furosemide and chlorothiazide. Other frequent clinical complications included abnormal CNS findings during the neonatal intensive care unit stay (ten infants), acidosis (pH less than 7.25) on the initial blood gas test (eight infants), and persistent fetal circulation in all seven infants with birth weights greater than 1,500 g. Developmentally, eight of nine children tested between 12 and 36 months of age were normal in all respects other than the hearing loss and the related language impairment. We conclude that infants who have been very ill in the newborn period, including term infants, may remain at risk for development of significant sensorineural hearing loss even though they have passed an initial auditory brainstem responses screening test in the newborn period.     

Hearing improvement in patients with Fabry disease treated with agalsidase alfa

Aim : To describe the nature and prevalence of hearing loss in Fabry disease, and its response to enzyme replacement therapy (ERT) with agalsidase alfa. Methods : Fifteen male patients with Fabry disease were enrolled in a randomized, double-blind study and received placebo ( n = 8) or ERT ( n = 7) with agalsidase alfa for 6 months. This was followed by an open-label extension of 36 months thus far. Alongside this trial, an additional eight men and two women have so far received open-label ERT for between 6 and 30 months. Pure-tone audiometry, impedance audio-metry and otoacoustic emission testing were performed at 0 (baseline), 6, 18, 30 and 42 months. Results : Nine patients (36%) had bilateral and ten (40%) had unilateral high-frequency sensorineural hearing loss (SNHL). Three (12%) had unilateral middle ear effusions with conductive losses persisting beyond 6 months. Only five patients (20%) had normal hearing. The high-frequency SNHL deteriorated over the first 6 months in both placebo and active treatment groups by a median 6.3 dB ( p < 0.0001, Wilcoxon matched-pairs). This hearing loss subsequently improved above baseline by 1.5 dB at 18 months (p = 0.07), by 5.0 dB at 30 months ( p = 0.006) and by 4.0 dB at 42 months ( p = 0.01).
Conclusion : Significant hearing loss, usually high-frequency SNHL, is a common manifestation of Fabry disease in adults. α-Galactosidase A replacement therapy with agalsidase alfa appears to reverse the hearing deterioration in these patients. This improvement, however, is gradual, suggesting the need for long-term ERT.     

Sensorineural hearing loss in sickle cell disease patients in Sicily

AIM: Sickle cell disease has been frequently associated with sensorineuronal hearing loss. Several studies have demonstrated a significant prevalence rate of sensorineuronal hearing loss in black patients reporting a range of 11-41%, while few data are reported for white people with Hb S/beta thalassemia. In this paper we evaluated the prevalence of sensorineuronal hearing loss in a Sicilian population affected by sickle cell disease. METHODS: Otologic and audiologic examinations were performed in 50 patients with S-beta thalassemia (37 with the beta(s)beta(0th) and 13 with the beta(s)beta(+th)) and 23 patients with sickle cell anemia (beta(s)beta(s)) observed at the Department of Pediatric Hematology and Oncology, University of Catania. RESULTS: A sensorial hearing loss of more than 25 dB was recorded in 24% of subjects with Hb S/beta0-thalassemia, in 23% of subjects with Hb S/beta+-thalassemia and in 30% of subjects with sickle cell anemia. We found an increase in the frequency of hearing loss with increasing age. CONCLUSIONS: Our data showed that sensorineuronal hearing loss is a common complication in white patients with sickle cell anemia, and in patients with severe forms of Hb S/beta-thalassemias.     

Hearing improvement in patients with Fabry disease treated with agalsidase alfa

AIM: To describe the nature and prevalence of hearing loss in Fabry disease, and its response to enzyme replacement therapy (ERT) with agalsidase alfa. METHODS: Fifteen male patients with Fabry disease were enrolled in a randomized, double-blind study and received placebo (n = 8) or ERT (n = 7) with agalsidase alfa for 6 months. This was followed by an open-label extension of 36 months thus far. Alongside this trial, an additional eight men and two women have so far received open-label ERT for between 6 and 30 months. Pure-tone audiometry, impedance audiometry and otoacoustic emission testing were performed at 0 (baseline), 6, 18, 30 and 42 months. RESULTS: Nine patients (36%) had bilateral and ten (40%) had unilateral high-frequency sensorineural hearing loss (SNHL). Three (12%) had unilateral middle ear effusions with conductive losses persisting beyond 6 months. Only five patients (20%) had normal hearing. The high-frequency SNHL deteriorated over the first 6 months in both placebo and active treatment groups by a median 6.3 dB (p < 0.0001, Wilcoxon matched-pairs). This hearing loss subsequently improved above baseline by 1.5 dB at 18 months (p = 0.07), by 5.0 dB at 30 months (p = 0.006) and by 4.0 dB at 42 months (p = 0.01). CONCLUSION: Significant hearing loss, usually high-frequency SNHL, is a common manifestation of Fabry disease in adults. Alpha-galactosidase A replacement therapy with agalsidase alfa appears to reverse the hearing deterioration in these patients. This improvement, however, is gradual, suggesting the need for long-term ERT.     

High frequency hearing loss in Ullrich-Turner syndrome

A total of 38 patients with Ullrich-Turner syndrome underwent standard otological and audiometric evaluation as well as high frequency audiological tests. Some 26 (68.4%) patients had a history of middle ear infections, and ten (26.3%) had required otolaryngological surgery. Conventional audiometry (125–8000 Hz) demonstrated normal hearing in only 25 of the ears (33%); between 500–4000 Hz, 16 ears (21.0%) had a mixed type and eight ears (10.5%) had conductive hearing loss. High frequency audiometry (8–18 kHz) revealed sensorineural hearing loss in 98.7% of the ears. Our results for conventional audiometry are in accordance with the literature. Conclusion The detection of a high prevalence of hearing loss in the high frequency range brings a significant new perspective to the pursuit of the aetiology of ear and hearing problems in Ullrich-Turner syndrome. This pathology seems to be a premature variant of presbycusis and it may underlie future hearing impairment which will come to clinical attention only after it progresses to conventional testing frequencies. While further studies are underway to evaluate this aspect, routine otological and audiological follow-up of patients with Ullrich-Turner syndrome is warranted from the time of diagnosis. Received: 1 December 1999 and in revised form: 31 March 2000 / Accepted: 4 April 2000     

Sensorineural hearing loss associated with Kawasaki disease

In five children who met the diagnostic criteria for Kawasaki Disease, sensorineural hearing loss developed in association with the acute illness. The children, aged 7 months to 13 years, had deficits ranging from mild to profound bilateral sensorineural hearing loss. There were no associated neurologic abnormalities, and immunologic investigations and magnetic resonance imaging failed to reveal a cause. Treatment regimens differed among the children, but none had high salicylate levels (greater than 20 mg/dl) or received other ototoxic medications. Antiinflammatory therapy was not obviously beneficial in any case, and four of the children have persistent hearing deficits. We conclude that auditory involvement may be a complication of Kawasaki disease; screening of clinically affected children should be considered.     

Early hearing detection and intervention in children with prelingual deafness, effects on language development

AIM: The purpose of this study was to assess, the cognitive and receptive language abilities in children with prelingual hearing impairment, in relation to the age of enrollment in the intervention program and examine the related variables. METHODS: Seventy children with congenital prelingual deafness were divided into 2 groups based on their age at the start of the intervention program: 17 children enrolled between 0-12 months of age, 53 children enrolled after the age of 12 months. The age of intervention is defined as the identification and confirmation of hearing loss, adaptation of hearing aids, and enrollment in the program of special education at the Orthophonological Institute of Rome. Assessments were carried out at 5 years of age. The receptive language abilities were measured using the Peabody picture vocabulary test (PPVT), while the cognitive abilities used the Raven standard progressive matrices test. The material was administered by staff skilled in assessing children with hearing loss. The assessment of language score tests (PPVT and Raven progressive matrix test) of samples of children with hearing loss was compared with normal standardized scores of hearing peers at 5 years of age. Mean group differences were compared using t-tests. The results were considered statistically significant for a P-value less than or equal to 0.05. RESULTS: A progressive decline in the mean PPVT score with increasing ages of enrollment was present. The mean receptive language score of the children enrolled within the first 12 months was significantly better (P<0.001) compared to those over 13 months. The nonverbal IQ, determined by Raven's standard progressive matrices, showed no statistically significant differences in IQ scores (P = 0.083) between children with early and late age of enrollment. Our data revealed that language abilities are significantly affected by the degree of hearing loss (P<0.001 Children with very severe hearing loss, find it more difficult to achieve adequate language abilities than children with moderate and severe hearing. CONCLUSION: According to previous studies on the matter, our data suggest that identification of hearing loss at early age associated with early hearing aid fitting, and enrollment in early intervention within the first 12 months of age, may help to obtain good results in the receptive language skills performance. The early identification of prelingual hearing loss at birth through the neonatal screening must therefore be, , considered the primary step for accessing a quality intervention.     

Parental decision making and the choice of communication modality for the child who is deaf

BACKGROUND: Early intervention decisions for a deaf or hard of hearing child are difficult to make, partly because of the lack of definitive proof of the superiority of any particular communication approach. OBJECTIVE: To compare the relative importance of the child's hearing loss and parental attitudes, beliefs, values, and aspirations in the decision process. METHODS: Eighty-three parents were surveyed about decision factors that may have affected their choice of communication modality, including resource availability, attitudes and beliefs about hearing loss, values, trade-offs, and goals. Parental preference ratings on hypothetical outcomes were also collected in 4 domains: communication, academic performance, social functioning, and emotional well-being. RESULTS: The child's extent of hearing loss was the most influential decision factor (P<.001). Beyond the extent of hearing loss, logistic regression further showed that parental cognitive-attitudinal factors were important in the inclination to favor an oral approach-if they believed that deafness can and should be corrected and if they desired the child to be able to speak (P =.03 and.04, respectively). Technology that aims at improving the child's ability to speak (eg, cochlear implants) had no significant impact on the decision to choose oral only training. CONCLUSIONS: Professionals who work with deaf children and their parents should recognize the presence of many relevant issues beyond the extent of the child's hearing loss. Interventions may be most effective if aimed at balancing parental beliefs and aspirations and audiologic considerations.     

Hearing loss in Down's syndrome. A treatable handicap more common than generally recognized.

Significant hearing loss was found in about two-thirds of a series of 107 individuals with Down's syndrome. Hearing loss of that degree causes retardation of speech, language and intellectual development in normal children. Down's children are presumably affected even more by this sensory deprivation and without correction are prevented from reaching their full potential.     

Cleidocranial dysostosis. A review of 11 cases in five generations

A female who was born after a gestation of 37 weeks without incident. A caesarean was performed due to cephalopelvic disproportion. She had no clavicles, dehiscence of the sagittal suture, large anterior fontanelle and occipital prominence. A chest x-ray, abdominal and brain ultrasound and karyotype, was requested, with changes only seen in the x-ray,, which showe clavicular agenesis and flared chest. Cleidocranial dysostosis was diagnosed a family study was started. There are ten affected members in five generations. The partial or total absence of clavicles, the late closure of cranial sutures and fontanelles, the diastasis of the pubic symphysis and the flared chest during the first days of life, are constant features. Four presented characteristic facies and three delayed onset of first teeth which required extractions. There is hearing loss in three of them. The three documented childbirths were caesarean due to cephalopelvic disproportion. Other alterations are failure to thrive, coxa vara and early osteoarthritis.     

Genetic deafness:the primary cause of sensorineural hearing loss in children]

Genetically-transferred hearing impairments account for more than 50% of cases of pediatric sensorineural hearing defects. Multiple clinical aspects are involved in genetic hearing impairment, including the involvement of other organs, genetic inheritance, and the degree and age at onset of hearing loss. Diagnosis relies on family history, on the systematic investigation of the symptomatology including an associated syndrome, and audiometry testing in parents and siblings. Analysis of the connexin 26 gene is also indicated, as it is frequently involved in this disorder. Further genetic analysis in affected families will aid in detecting other as yet unidentified genes responsible for hearing impairment.     

Hearing loss in very low birthweight infants treated with neonatal intensive care.

The hearing of 111 perinatal intensive care survivors of birthweights 1500 g or less was assessed at a mean age of 6 1/2 years (range 4--12). These 111 infants included 86% of the long-term survivors of this birthweight cared for in the newborn unit of University College Hospital, London, during the years 1966--72. All these infants were nursed in commercially available incubators for periods ranging from 2 to 80 days (mean 37) in which the mean noise threshold was 65 dB. Ten (9%) had sensory neural nearing losses, one (1%) infant had a congenital conductive hearing loss, and 21 (19%) infants had exudative otitis media with a mean loss of 25 dB. Apnoeic attacks in the neotal period were the most significant predictors of hearing loss in these infants (P less than 0.05) and an indirect serum filirubin level of at least 170 micromol/l (10 mg/100 ml) in the neonatal period had an additive effect (P less than 0.05). There was no evidence that ambient noise had affected the hearing of these very low birthweight infants.     

Otitis media with effusion in children: current management

Otitis Media with Effusion (OME, ‘glue ear’) is the commonest cause of childhood hearing loss. Because the condition fluctuates, initial management of otitis media with effusion is audiometric confirmation and quantification of any hearing loss involved, explanation to parents or carers and watchful waiting with continued audiometric monitoring.Neither medical treatments nor “complementary/alternative” treatments have been proven to be effective in the management of otitis media with effusion. Insertion of ventilation tubes (grommets) for children over 3 years of age with a bilateral hearing impairment associated with otitis media with effusion, who have failed watchful waiting, is effective in restoring hearing thresholds. The hearing returns to normal almost immediately. While normal auditory thresholds are the surrogate marker following surgical intervention, improvement in quality of life, social and educational performance are recognized but so far not well measured in trials, and not customary in routine clinical service.Where adenoidectomy can additionally be justified in persistent OME, the combination of ventilation tubes and adenoidectomy in such children is broadly beneficial to terms of hearing, respiratory and related health and to development. This benefit is sustained for over 2 years after intervention and is cost-effective.For children with persistent glue ear under the age of 3 years, there is very limited evidence from clinical trials on which to base decision-making. There is also no good evidence for the benefits of surgical intervention for children with unilateral effusion and hearing loss, even if persistent. Clinical experience from adults with unilateral glue ear suggests that in a normally hearing individual, sudden reduction in hearing from one ear is unexpectedly disabling. Grommets may however be helpful for younger children with frequent, recurrent acute otitis media and perforation, refractory to prophylactic antibiotic treatment. In this situation the primary intention of surgery is not to improve hearing, which is usually not affected in a persistent way, but to protect the tympanic membrane from repeated, and sometimes, permanent perforation.     

The relationship between language development and behaviour problems in children with hearing loss

Background:  There are well-replicated findings that link poor development on a range of communication skills with increased behavioural problems. This paper examines this relationship in children with hearing loss.
Method:  One hundred and twenty children with hearing loss (67 boys, 53 girls) and 63 hearing children (37 boys, 26 girls) with a mean age of 8 years from eight districts in Southern England were assessed for receptive and expressive language skills. The relationships between these measures and an aggregate of parent- and teacher-reported behaviour problems in the children were investigated.
Results:  Children with hearing loss had higher levels of behaviour problems compared to hearing children. Once the language abilities of children with hearing loss are taken into account, the negative effects of hearing loss on behaviour disappear.
Conclusions:  Behaviour problems are found more commonly in children with hearing loss and the level of behaviour problems is highest amongst those children with hearing loss with the least developed language capabilities.     

Newborn auditory follow-up

Because hearing is a key component in the infant's development of speech, language, and cognition, early detection of infant hearing loss is critically important. The routine evaluation of hearing should include the identification of parental concerns regarding infant hearing as well as the assessment and diagnosis of infants with potential hearing impairment. Identification of hearing loss should be followed by early interventions to prevent developmental delays. This article promotes universal screening of newborn hearing. The article also provides a review of the embryogenesis of hearing and includes a breakdown of risks for hearing loss, recommendations for auditory testing, and suggestions for follow-up, early intervention, and support for families of infants with hearing impairment.