Mild Bilateral Sensorineural Hearing Loss Research Articles

A case of osteogenesis imperfecta diagnosed after subchondral insufficiency fracture of bilateral femoral heads.

Osteogenesis imperfecta (OI) is a heterogeneous disorder characterised by bone fragility. Herein, we report a case of OI diagnosed after subchondral insufficiency fracture (SIF) of bilateral femoral heads. A 37-year-old woman was referred to Saitama Medical University Hospital due to left hip pain without any trauma that lasted for 2 months. She was subsequently diagnosed with SIF of the left femoral head. After 3 months, she further developed SIF of the right hip without any trauma. Magnetic resonance imaging of the bilateral hips showed linear low-signal changes of the subchondral bone and bone marrow oedema of the femoral head on T2-weighted coronal and sagittal images, diagnosing of both SIFs. The bone mineral density was 0.851 g/cm2 (T-score, -1.3) at the lumbar spine, 0.578 g/cm2 (T-score, -1.9) at the right femoral neck, and 0.582 g/cm2 (T-score, -1.9) at the left femoral neck. Considering that the patient had multiple histories of fracture, blue sclera, and mild bilateral sensorineural hearing loss, she satisfied the diagnostic criteria for OI. Genetic testing revealed a mutation in COL1A1 (NM_000088.3, c.3806G>A: p. Trp1269*). After 7 months of conservative therapy, her symptoms improved. After 4 years, both hips were pain-free with no evidence of osteoarthritis progression. OI can result in insufficiency fractures due to bone fragility in adolescence and adulthood or later, and none of the cases of OI, except for the current case, were diagnosed as a result of bilateral SIF.

Language and quality of life in Swedish children with mild hearing loss

ABSTRACT This study explored the impact of mild bilateral sensorineural hearing loss (MBHL) on language development and health-related quality of life (HRQoL) and investigated the relationship between these outcomes in school-aged children. Participants comprised 16 children (9 girls, 7 boys) between 9–12 years (mean 11.2 years) with MBHL born in Sweden. Language was assessed by a Speech Pathologist and children self-reported their HRQoL. Results showed mean scores for language and HRQoL were not significantly different to normative means. Two children (12.5%) met the criterion for language disorder (LD) and another two children were considered at risk for poor HRQoL. The participants scored poorest on the language skills of formulating of sentences and following concepts and directions, and on the HRQoL domain of psychosocial wellbeing, although none significantly below normative means. A trend in the data showed a moderate positive correlation between overall language ability and HRQoL scores. Participant demographic factors of sex and hours of hearing aid use explained 15% of the variation in HRQoL outcomes; however, this was not statistically significant (p = .65). The hours of hearing aid use accounted for 27.5% of the variance in outcomes for language which was significant (p = .05). Overall, these results indicate that some children with MBHL are at risk of LD and poor HRQoL as they progress through school.

MO021: Alport syndrome manifestation in twins

Abstract BACKGROUND AND AIMS Alport syndrome (AS) is a hereditary renal disease characterized by progressive loss of kidney function and often accompanied by sensorineural hearing loss and ocular abnormalities [1]. The variety of symptoms and their severity is closely associated with mode of inheritance, type of mutation, as well as the sex of the patient [2]. In cases of twins with Alport syndrome, genotype–phenotype manifestation shows a large intrafamilial heterogeneity, although only few reports have been published. In this case series, we describe three different manifestations of three unrelated families with AS with twin pattern. METHOD Molecular analysis by next-generation sequencing was performed on individuals with suspected AS in Vilnius University Hospital Santaros Klinikos. Only patients with confirmed pathogenic AS variants and presence of the twin sibling were included in this study. Clinical, genetic, and laboratory data were reviewed and compared among the siblings and their family members. RESULTS Case 1: Two heterozygous twin sisters with two compound heterozygous pathogenic variants c.4702C > T and c.3247G > C in COL4A3 gene led to autosomal recessive AS. The first sister with a history of nephritis from a childhood reached kidney failure at the age of 33. Further investigations revealed mild bilateral sensorineural hearing loss and no ocular lesions. Her 33-year-old heterozygous twin sister had a similar past history consisting of hematuria since the age of 5 and preeclampsia during her first pregnancy at the age of 30. However, at the age of 33, this patient still had preserved kidney function with eGFR >45 mL/min/1.73 m3. She also suffered by mild bilateral hearing loss while no ocular abnormalities were found. Case 2: Heterozygous pathogenic variant c.2623G > A in COL4A5 gene in female heterozygous twin and her relatives (her mother, son and granddaughter) led to X-linked AS while her twin brother was born healthy. The 51-year-old female’s medical history revealed hematuria since 7 years of age. Her kidney function gradually declined and the patient reached kidney failure at the age of 43 years. Family screening showed a history of kidney disease. Her mother developed hematuria and proteinuria at the age of 20 years and kidney failure at 60 years. The patient's son reached kidney failure at his 20s and he also had bilateral sensorineural hearing loss and typical ocular lesions. Her granddaughter has experienced persistent hematuria and proteinuria since 2 months old, but no extrarenal manifestations were discovered. Case 3: Two heterozygous twin brothers with heterozygous pathogenic variant c.593G > T in COL4A3 gene led to autosomal dominant AS. A 53-year-old male has experienced persistent hematuria and proteinuria since the age of 26. At the age of 53, kidney biopsy was performed where FSGS, thin and split glomerular basement membrane were observed. Further examination showed mild bilateral sensorineural hearing loss and no ocular abnormalities. Family screening revealed that multiple family members had a history of kidney disease. Patient's 55-year-old twin brother experienced persistent hematuria since early adulthood; however, he did not show any signs of hearing loss or ocular abnormalities. Elder brother demonstrated hematuria as well. The patient's deceased father reached kidney failure at the age of 69; however, no hearing abnormalities were found. CONCLUSION Observing genotype–phenotype manifestations suggest that some pathogenic variants demonstrate intrafamilial phenotypic variability. Therefore, despite having identical mutations, twins can manifest AS differently.

Mild matters: parental insights into the conundrums of managing mild congenital hearing loss

Objective To explore and describe parental experiences related to the management of mild bilateral congenital hearing loss in children. Design Using qualitative methods, we conducted semi-structured interviews with parents/caregivers until saturation of themes was achieved. We analysed transcripts using inductive content analysis. Study sample Caregivers of children under 3-years-old with mild bilateral sensorineural hearing loss. Results We interviewed 12 parents. Parental perception of advice regarding hearing aid fitting was varied; almost all children were offered hearing aids. Perceived positives related to hearing aids: feeling empowered that action has been taken; improvements in the child’s hearing perception and; facilitation of behavioural management. Perceived negatives of hearing aid use: difficulties with compliance resulting in parental frustration and guilt, damage/loss of equipment, discomfort, parental discord, altered quality of natural sound and potential bullying/stigma. Some parents were ambivalent about the effect of the hearing aids. Where hearing aids were offered and not fitted, there was significant ongoing uncertainty, and the family carried the burden of their decision. Conclusions There was a wide variation in perceived advice regarding early hearing aid fitting in children with mild bilateral hearing loss. We identified parental perceptions of positive/negative impacts of hearing aid fitting and potential perceived harms from not fitting.

De Novo Mutation of m.3243A>G together with m.16093T>C Associated with Atypical Clinical Features in a Pedigree with MIDD Syndrome.

Background The syndrome of maternally inherited diabetes and deafness (MIDD) is typically caused by the m.3243A>G mutation and widely considered maternally inherited. In our study, we aimed to investigate the heredity way of the m.3243A>G among pedigrees with MIDD and discover novel mitochondrial DNA mutations related to atypical clinical phenotypes. Methods Heteroplasmy levels of the m.3243A>G mutation in peripheral blood, saliva, and urine sediment of 31 individuals from 10 unrelated pedigrees were measured by pyrosequencing. Clinical evaluations including endocrinological, audiological, and magnetic resonance imaging (MRI) examinations, mitochondrial function evaluation in peripheral blood mononuclear cells (PBMCs), and whole mitochondrial DNA (mtDNA) sequencing were performed among the spontaneous mutant pedigrees. Results Among the 10 unrelated MIDD pedigrees, we found that the de novo m.3243A>G mutation occurred in the family 1957 (F1957). The proband (F1957-II-1) and her son (F1957-III-1) both manifested diabetes with mild bilateral sensorineural hearing loss (SNHL) and abnormal brain MRI, and F1957-III-1 also complained of severe nausea and vomiting. Mitochondrial function evaluation in PBMCs revealed an increased level of ROS generation and decreased levels of ATP and mitochondrial membrane potential (ΔΨm) in the two m.3243A>G carriers. Whole mtDNA sequencing also revealed a de novo heteroplasmic substitution at m.16093T>C in both the proband and her son. Conclusions Our study showed that de novo m.3243A>G mutation accompanied by other point mutations may occur in the very early embryonic or germ cell stage without maternal inheritance, bringing about both typical and atypical clinical features.

Can mild bilateral sensorineural hearing loss affect developmental abilities in younger school-age children?

The research study was conducted for the purpose of examining the influence of mild bilateral sensorineural hearing loss (MBSNHL) on developmental abilities of younger school-age children. The sample encompassed 144 children with MBSNHL, aged 7.5-11 (M = 8.85). MBSNHL (20-40 dB HL) was identified by pure tone audiometry. The control group encompassed 160 children with normal hearing. The Acadia test of developmental abilities was used for assessment of developmental abilities. Although statistically significant differences between participants with MBSNHL and those with normal hearing were established in the majority of estimated developmental abilities domains, those differences do not indicate any significant delay in development of assessed abilities, except in the domain of auditory discrimination. The obtained results call for a systematic approach to children with MBSNHL in elementary schools.

Vestibular migraine

The aim of the study was to assess the evolution of clinical symptoms and vestibulo-cochlear function in patients with definite vestibular migraine (dVM). We reassessed 61 patients (54 women, 7 men, aged 24-76 years) with dVM according to validated diagnostic criteria after a median follow-up time of 9 years (range, 5.5-11). Assessment comprised a clinical interview and neurotologic examination, including pure-tone audiometry and caloric testing. The majority of patients (87%) had recurrent vertigo at follow-up. Frequency of vertigo was reduced in 56%, increased in 29%, and unchanged in 16%. Impact of vertigo was severe in 21%, moderate in 43%, and mild in 36%. Eighteen percent reported mild persistent unsteadiness. Interictal ocular motor abnormalities had increased from 16% initially to 41% of patients at follow-up. The most frequent finding was positional nystagmus (PN), in 28%, including definite central-type PN in 18%. However, only 1 of 9 patients with ocular motor abnormalities at initial presentation showed similar findings on follow-up. Concomitant cochlear symptoms with vertigo had increased from 15% initially to 49%. Eleven patients (18%) had developed mild bilateral sensorineural hearing loss, which also involved the low-frequency range. The majority of patients continue to have recurrent vertigo in the long-term evolution of VM, and the impact of vertigo may remain severe. Whereas interictal ocular motor abnormalities may show some variation over time, vestibulo-cochlear dysfunction progresses slowly in some patients with VM. Interictal central-type PN may help distinguish VM from peripheral vestibular disorders such as Ménière disease.

Hearing Loss and Airway Problems in Children With Mucopolysaccharidoses

IntroductionMucopolysaccharidoses (MPS) are a group of systemic diseases characterised by a genetic deficiency of lysosomal enzymes that cause the accumulation of glycosaminoglycans in different tissues. The onset of symptoms usually occurs in early childhood, causing problems of otitis media, hearing loss and airway obstruction in the ENT area. ObjectiveDescribing the audiological findings and airway pathology found in 9 children diagnosed as having MPS. MethodsA retrospective review was performed of the clinical and audiological findings, exploratory results and therapeutic ENT procedures for 9 children diagnosed with MPS in an ENT service at a tertiary paediatric public centre in the period 2007–2010. ResultsSubtypes found were 4 MPS type I, 2 moderate MPS type II, 1 severe MPS type II, 1 MPS type IV and 1 MPS type VI. All patients presented chronic middle ear effusions. A child developed mild bilateral sensorineural hearing loss; another case was diagnosed as mixed hearing loss. The remaining auditory pattern was moderate bilateral conductive hearing loss. Four patients showed secondary obstructive sleep apnoea/hypopnoea syndrome (OSAHS) due to Waldeyer ring hyperplasia; surgery could not be performed on one of them because of cervical spinal cord compression from mucopolysaccharide deposits. In 2 cases, there was OSAHS relapse. ConclusionsChildren with MPS are at increased risk for developing sensorineural hearing loss. The OSAHS syndrome appears in greater proportion than in the general child population, and recurrences may occur more frequently after surgery. Such children can also be risk patients in airway management.

Hipoacusia y problemas de vía aérea en niños con mucopolisacaridosis

Introduction Mucopolysaccharidoses (MPS) are a group of systemic diseases characterised by a genetic deficiency of lysosomal enzymes that causes the accumulation of glycosaminoglycans in different tissues. The onset of symptoms usually occurs in early childhood, causing problems of otitis media, hearing loss and airway obstruction in the ENT area. Objective Describing the audiological findings and airway pathology found in 9 children diagnosed as having MPS. Methods A retrospective review was performed of the clinical and audiological findings, exploratory results and therapeutic ENT procedures for 9 children diagnosed with MPS in an ENT service at a tertiary paediatric public centre in the period 2007-2010. Results Subtypes found were 4 MPS type I, 2 moderate MPS type II, 1 severe MPS type II, 1 MPS type IV and 1 MPS type VI. All patients presented chronic middle ear effusions. A child developed mild bilateral sensorineural hearing loss; another case was diagnosed as mixed hearing loss. The remaining auditory pattern was moderate bilateral conductive hearing loss. Four patients showed secondary obstructive sleep apnoea/hypopnoea syndrome (OSAHS) due to Waldeyer ring hyperplasia; surgery could not be performed on one of them because of cervical spinal cord compression from mucopolysaccharide deposits. In 2 cases, there was OSAHS relapse. Conclusions Children with MPS are at increased risk for developing sensorineural hearing loss. The OSAHS syndrome appears in greater proportion than in the general child population, and recurrences may occur more frequently after surgery. Such children can also be risk patients in airway management.

Perda auditiva leve: desempenho no Teste da Habilidade de Atenção Auditiva Sustentada

hearing loss during childhood is considered a risk factor for developmental delay. to verify the performance of children diagnosed with mild hearing loss, conductive and sensorineural, in the Sustained Auditory Attention Ability Test (SAAAT). The purpose of the study was to verify if the test is influenced by the presence of hearing impairment. a clinical study of the SAAAT considering three groups: Group 1 (G1) control group composed by children with normal hearing, Group 2 (G2) composed by children with mild bilateral sensorineural hearing loss and Group 3 (G3), composed by children with mild bilateral conductive hearing loss. Participants were children with ages between 7 and 11 years; 30 children in each group. A prospective study. Pure Tone Audiometry, Acoustic Imittance Measures and SAAAT. children with sensorineural and conductive hearing loss presented a lower performance in all of the SAAT results when compared to the control group. the SAAAT was influenced by the presence of mild hearing impairment, considering that the greatest influence was observed in the presence of sensorineural hearing loss.

Orodental findings of a family with lacrimo-auriculo-dento digital (LADD) syndrome

Lacrimo-auriculo-dento-digital (LADD) syndrome is an autosomal dominantly inherited disorder characterized mainly by hypoplasia/aplasia of lacrimal and salivary tracts, small cup-shaped and/or malformed ears, sensorineuronal or conductive hearing loss, abnormalities of the teeth, and variable anomalies of the hands and feet. In this case report, general and dentofacial features of 2 siblings and their father are described. Both siblings presented hypoplastic lacrimal puncta, cup-shaped/low-set ears with bilateral sensorineuronal hearing loss, broad first toes, and bilateral clinodactyly of the fifth toes. The 17-year-old female revealed mainly peg-shaped incisors, long thin-rooted teeth, malformed molars, microdontia, and enamel hypoplasia; and the 10-year-old male showed a short lingual frenulum, peg-shaped incisors, shallow cusps, agenesis of mandibular second premolars, and taurodontism. Father exhibited hypoplastic puncta, hypolacrimia, mild bilateral sensorineural hearing loss, taurodontism, and absence of some teeth. In conclusion, this case report of a family has demonstrated the various general and orofacial features encountered in LADD syndrome.