Search Results (124)

Theory of Mind (ToM) is a construct that includes a range of connected abilities linked to the understanding of others’ mental states. During the last three decades, ToM development has been studied extensively in deaf and hard of hearing (DHH) individuals and performances compared to the typically hearing (TH) population. Given the advances in the early diagnosis of deafness, interventions, and hearing devices over this period, variations in task performance among DHH participants might have been reduced. The current systematic review aims to synthesize all studies of ToM in DHH individuals and answer the following question: Do DHH individuals (Population), compared to a control sample of TH and/or among themselves (Comparator), in an assessment of ToM (Intervention), have differentiated results (Outcome)? After a search of the literature, 97 papers were included. We found that, in general, TH participants outperformed their DHH peers in ToM measures; however, there was a wide range of results. Explanations for this variability included the quality of early interactions and early exposure to both signed and spoken language. The review also indicates that the understanding of false belief was the most studied component within ToM, while other components, such as understanding intention and irony, require further research. Implications of these findings for clinical practice are discussed. Full article

Some children with autism may require additional support to meet academic expectations for comprehension. Because an extensive set of research links oral narration to listening and reading comprehension, the promotion of narrative-based skills may be a viable intervention approach. The purpose of this study was to examine the effect of narrative intervention with explicit strategy instruction on the listening and reading retells of children with autism after hearing and decoding novel stories. Four children with autism aged 7 and 9 years old participated in this multiple baseline across participants single-case experimental design study. Behavioral therapists delivered the narrative intervention, which included explicit instruction on the use of story grammar icons, to each child individually within the course of their therapy. Results showed that all participants improved their listening (TauU ES range = 0.64–1.06) and reading (TauU ES range = 0.72–1.15) retells, but they required extended use of the icon strategy to achieve the most benefit. When icons were completely removed, three of the four participants performed above baseline levels on the listening and reading comprehension measures. Full article

This paper offers an overview of a large study of language and cognitive development in deaf and hard of hearing children. Specifically, we investigated how acquiring a signed or spoken language (language modality) and when a child’s access to language begins (i.e., at birth or later in development) influence cognitive development. We conducted in-person behavioral assessments with 404 children 3–10 years old (280 deaf and hard of hearing; 124 typically hearing). The tasks measured a range of abilities along a continuum of how strongly they depend on language input, such as general vocabulary and number words (strongly dependent) vs. skills such as tracking sets of two to three objects and standardized ‘nonverbal’ picture-similarity tasks (relatively independent of language). Overall, the timing of children’s access to language predicted more variability in their performance than language modality. These findings help refine our theories about how language influences development and suggest how a STEAM pedagogical approach may ameliorate the impacts of later access to language. These results underscore children’s need for language early in development. That is, deaf and hard of hearing children must receive fully accessible language input as early as possible through sign language, accompanied by hearing technology aimed at improving access to spoken language, if desired. Full article

The assessment of hearing in children is important, as hearing deficits can impair child development. The Auditory Steady-State Response (ASSR) is an electrophysiological technique that is able to simultaneously evaluate both ears at four frequencies, making it advantageous for testing children where the test time needs to be as short as possible. The objective of this work was to perform a literature review on the effectiveness of ASSR to gauge hearing thresholds in babies, infants, and children, examining its ability to distinguish mild hearing loss from normal cases. This review used PubMed, Web of Science, and Scopus databases from 2014 to 2024. A total of 1226 articles were identified, although only 16 met the previously established inclusion criteria. It was found that ASSR is a reliable diagnostic tool for babies, infants, and children. Recent work appears better able to distinguish mild hearing loss from normal hearing. One unresolved aspect that needs additional attention is the effectiveness of using bone-conducted stimuli. Full article

Deaf and hard-of-hearing (DHH) children are often reported to show deficits on working memory (WM) tasks. These deficits are often characterized as contributing to their struggles to acquire spoken language. Here we report a longitudinal study of a large (N = 103) sample of DHH children who acquired American Sign Language (ASL) as their first language. Using an n-back working memory task, we show significant growth in WM performance across the 7–13-year-old age range. Furthermore, we show that children with early access to ASL from their DHH parents demonstrate faster WM growth and that this group difference is mediated by ASL receptive skills. The data suggest the important role of early access to perceivable natural language in promoting typical WM growth during the middle school years. We conclude that the acquisition of a natural visual–gestural language is sufficient to support the development of WM in DHH children. Further research is required to determine how the timing and quality of ASL exposure may play a role, or whether the effects are driven by acquisition-related corollaries, such as parent–child interactions and maternal stress. Full article

Implementing neonatal hearing screening has significantly reduced the age at which hearing impairments are detected in children. Nevertheless, objective electrophysiological assessments, such as auditory brainstem response (ABR) or auditory steady-state response (ASSR) testing, are often necessary for children older than six months. These evaluations should be conducted while the child is asleep to obtain accurate and interpretable results, as movement and muscle activity can introduce artifacts that compromise the quality of the recordings. In this narrative review, we evaluate sedation strategies in paediatric procedures, focusing on the efficacy, safety, and practicality of agents/routes for inducing sleep during ABR/ASSR testing. Sedation choices should prioritise patient safety, clinical context, and result reliability and be tailored to the individual’s age, health status, and procedural needs. Full article

Objective: The development of a normal sleep–wake rhythm in the first weeks of life depends on the physiological sensory needs of the newborn as well as the environment surrounding them. This includes, for example, avoiding pain, exposure to bright light at night and high noise levels. In high-risk newborns, this process can be influenced by immaturity of the central and peripheral nervous systems, therapeutic strategies and the work organization of an intensive care unit. Methods: This study used a narrative review to examine the literature on the interrelationship of sensory modalities on sleep–wake behavior in the context of neonatal intensive care. The current Cochrane reviews on cycled lighting’s effect on premature infants’ circadian rhythm development and noise or sound management in the neonatal intensive care unit, as well as the World Health Organization (WHO) global position paper on kangaroo mother care, were included. Results: An extensive body of literature relates to fetal and neonatal development of the five sensory modalities: touch, taste, smell, hearing and sight. In contrast, there is a lack of evidence regarding the choice of optimal lighting and suitable measures for noise reduction. Since 2023, the WHO has recommended that, from the moment of birth, every “small and sick” newborn should remain in skin-to-skin contact (SSC) with their mother. Developmental support pursues a multimodal approach with the goal of fostering early parent–child bonding, including the child’s needs and environmental conditions. Discussion: The implementation of early SSC and attention to the sleep–wake cycle require systemic changes in both the obstetric and neonatal settings to ensure seamless perinatal management and subsequent neonatal intensive care. Since there is a lack of evidence on the optimal sensory environment, well-designed, well-conducted and fully reported randomized controlled trials are needed that analyze short-term effects and long-term neurodevelopmental outcomes. Full article

Hearing plays a significant role in children’s development. The Auditory Steady State Response (ASSR) using a narrow band CE^® chirp is a technique that allows multiple stimuli to be presented simultaneously, making it possible to obtain electrophysiological thresholds with frequency specificity. The objective of this work is to analyze the findings obtained with the ASSR NB-CE^® chirp technique and compare them with two other methodologies—click ABR and tone-burst ABR—in the audiological assessment of children carried out under inhalation anesthesia. All the exams were performed in a single session. This study involved 71 children aged between 14 and 59 months, male and female, who were referred for ABR and ASSR due to suspected hearing loss and/or delay in speech/language development. Pearson’s correlation coefficient between the uncorrected and corrected thresholds obtained in the three methods demonstrated high correlations for all frequencies evaluated. Full article

Background: Cytomegalovirus (CMV) infection is the most common and serious congenital infection, with universal screening in pregnancy, standardized therapy, and a vaccine still lacking. Study design: In the 1990s, we noted that intravenous ganciclovir did not cure some children with severe sequelae due to congenital cytomegalovirus (CMV) infection. Therefore, we performed an open randomized trial using intravenous foscarnet as an alternative to intravenous ganciclovir in 24 infants (12 in each therapy group), all with severe neurological manifestations due to congenital CMV infection. Nine and five infants, belonging to the foscarnet or ganciclovir group, respectively, had abnormal hearing. One infant in each group also had chorioretinitis. Concomitantly, 12 CMV-infected infants with similar manifestations, who did not receive any therapy, were used as controls. The results of short-term (2 years) and long-term (7–29 years, mean 22.2) follow-up are reported herein. Short-term results: Neurological outcomes were normal in five of the twelve children who were treated with foscarnet, compared to nine of the twelve children given ganciclovir. None of the untreated children were healthy. There was a statistically significant difference (p = 0.023) between the treated and untreated children. Hearing was normal in four of the twelve children treated with foscarnet, seven of the twelve children treated with ganciclovir, and two untreated children. Long-term-results: Two children in both therapy groups died before the age of 17 years, and six untreated children died between 7 and 26 years of age. Neurological outcomes were normal in three of the ten children treated with foscarnet, in two of the ten treated with ganciclovir, and in none of the untreated children. Hearing was normal in two children treated with foscarnet, in six children treated with ganciclovir, and in one untreated child. Conclusions: Intravenous ganciclovir and foscarnet were found to be safe at long-term follow-up and appeared to be capable of mitigating the neurological and auditory consequences of congenital CMV disease at the short-term follow-up. However, there was progressive worsening of the symptomatology in all three groups, with a statistically significant increase in the number of deaths (p = 0.035) among 4 of the 24 children in the therapy groups and 6 of the 12 untreated children. Full article

Background: Vestibular function implements head position regulation and body spatial navigation. It matures during childhood and adolescence and integrates with the completion of an individual’s motor development. Nevertheless, vestibular impairment is associated with profound paediatric hearing loss and has a negative impact on the child’s motor proficiency. Cochlear implantation (CI) is the treatment of choice for severe hearing loss, where conservative treatment plans are not appropriate or fail. The Teenager and Young Adults Cochlear Implant (TAYACI) study investigates the long-term outcomes of early implantation with respect to the hearing, speech, psychological, and balance development among CI users. Methods: This study focuses on the vestibular function and the appropriate methods for vestibular assessment. The results of two established vestibular test methods are explored: the video head impulse test (vHIT) and cervical/ocular vestibular-evoked myogenic potentials (cVEMP, oVEMP) with air and bone conduction vibration stimulation. The results of vHIT, cVEMP, and oVEMP, per implanted ear and the relation to the aetiology of hearing loss are reported. An additional dynamic visual acuity (DVA) test was included to assess clinical oscillopsia. Results: Overall abnormal lateral canal testing was detected in 35/76 (46.1%) of the implanted ears. Bone-conducted cVEMP (BC cVEMP) was pathological in 33/76 (43.3%) and BC oVEMP in 42/76 (55.3%). Lateral canal impairment was associated with the background diagnosis of the hearing loss. Oscillopsia was related to bilateral canal impairment (sensitivity 73% specificity 100%). Conclusions: Lateral canal testing together with BC VEMPs were the most reproducible modules for vestibular testing The above tests were related to each other and complemented the overall vestibular assessment. DVA is a helpful tool to screen dynamic oscillopsia in patients with bilateral vestibular impairment. Full article

The BCS1L gene encodes a mitochondrial chaperone which inserts the Fe₂S₂ iron–sulfur Rieske protein into the nascent electron transfer complex III. Variants in the BCS1L gene are associated with a spectrum of mitochondrial disorders, ranging from mild to severe phenotypes. Björnstad syndrome, a milder condition, is characterized by sensorineural hearing loss (SNHL) and pili torti. More severe disorders include Complex III Deficiency, which leads to neuromuscular and metabolic dysfunctions with multi-systemic issues and Growth Retardation, Aminoaciduria, Cholestasis, Iron Overload, and Lactic Acidosis syndrome (GRACILE). The severity of these conditions varies depending on the specific BCS1L mutation and its impact on mitochondrial function. This study describes a 27-month-old child with SNHL, proximal renal tubular acidosis, woolly hypopigmented hair, developmental delay, and metabolic alterations. Genetic analysis revealed a homozygous BCS1L variant (c.38A>G, p.Asn13Ser), previously reported in a patient with a more severe phenotype that, however, was not functionally characterized. In this work, functional studies in a yeast model and patient-derived fibroblasts demonstrated that the variant impairs mitochondrial respiration, complex III activity (CIII), and also alters mitochondrial morphology in affected fibroblasts. Interestingly, we unveil a new possible mechanism of pathogenicity for BCS1L mutant protein. Since the interaction between BCS1L and CIII is increased, this suggests the formation of a BCS1L-containing nonfunctional preCIII unable to load RISP protein and complete CIII assembly. These findings support the pathogenicity of the BCS1L c.38A>G variant, suggesting altered interaction between the mutant BCS1L and CIII. Full article

Background/Objectives: Unilateral hearing loss (UHL) is a relatively common disability condition comprising around 20–50% of all congenital hearing loss (HL). The adverse effects of UHL affect the typical development of auditory function with implications for communication, speech and language acquisition, academic development and quality of life. Current literature suggests an early intervention treatment in order to avoid developmental delays, but there is a lack of evidence about the effectiveness and use of hearing devices. The purpose of the present study was to evaluate the benefits of rehabilitative strategies such as hearing aid (HA) and cochlear implant (CI) in UHL children by exploring audiological and parent-reported outcomes. Methods: A total of 18 UHL children, between the ages of 3 and 17, were enrolled in the study designed as a prospective longitudinal study from July 2023 to July 2024. All children were evaluated for speech perception in quiet and noise and subjective benefits before and after rehabilitative treatment with HA in 15 (83.3%) children and with CI in 3 (16.7%) children. Results: The evaluation of audiological outcomes in children with UHL, based on assessment of aided sound field thresholds and speech perception scores assessment versus unaided, shows improvements in audiometric thresholds and how the hearing devices adequately support listening and spoken language. Scores with hearing devices were significantly higher than baseline-only scores when averaging both SSQ and CHILD questionnaires, pointing to an overall rehabilitative benefit. Conclusions: Rehabilitative interventions, particularly HA and CI, offer notable benefits when introduced early, but achieving optimal outcomes requires a multidisciplinary and individualized approach. Full article

The DEAD/DExD/H-box RNA helicases are a group of RNA-binding proteins involved in the metabolism of mRNAs. They coordinate gene expression programs and play a role in cellular signaling, fate, and survival. We describe a case of a 36-year-old female with neuromuscular disease, sensorineural hearing loss, retinitis pigmentosa, and primary ovarian insufficiency harboring a heterozygous de novo missense pathogenic variant in the DEAH-box helicase 16 (DHX16) gene. This is the first case exhibiting a high intellectual level and the highest survival outcome so far. Eight previous cases of DHX16 disease-causing variant carriers have been described with common features, including muscle weakness with hypotonia, myopathy or peripheral neuropathy, sensorineural hearing loss, abnormal retinal findings, and infantile spasms or epilepsy. Increasing evidence associates RNA-binding proteins, including the DEAD/DExD/H-box helicase family genes, with neuropsychiatric or neurodevelopmental disorders. DHX16 genetic analysis should be considered early when diagnosing a child or young adult with muscular disease, severe hearing loss, and ocular anomalies. Full article

Objectives: Antibiotic exposure during pregnancy is common, accounting for over 80% of all medications prescribed. Antibiotics in pregnancy are linked to increased childhood disease risk, through direct toxicity or potentially microbiome dysbiosis. This systematic review investigated the relationship between in-utero exposure to antibiotics and childhood hearing loss. Methods: We searched Ovid Medline, Embase, and PubMed for studies examining antibiotic exposure during pregnancy and its associations with hearing loss in offspring. Studies with children whose mothers had data on antibiotic exposure during pregnancy were selected. The meta-analysis calculated (1) pooled prevalence of childhood hearing loss and (2) pooled odds ratios (ORs) for associations between in-utero exposure to antibiotics and childhood hearing loss. Results: Of 1244 studies identified, 18 met the inclusion criteria. Among 161,053 children exposed in-utero to antibiotics, 4368 developed hearing loss. The pooled prevalence of childhood hearing loss was 0.9% (95% CI 0.0–2.8%, I² = 99.6%). In-utero exposure to antibiotics was associated with an increased risk of childhood hearing loss (pooled OR 1.2, 95% CI 1.1 to 1.3, I² = 15.4%). Aminoglycoside exposure during pregnancy was associated with a higher risk of hearing loss (pooled OR 1.2, 95% CI 1.1 to 1.3, I² = 38.4%), while exposure to other antibiotic classes showed no association. Conclusions: The prevalence of childhood hearing loss among those exposed to antibiotics during pregnancy is high. Although the overall risk appears modest, aminoglycosides are linked to a significantly higher risk, suggesting maternal aminoglycoside exposure may indicate a risk for child hearing loss. Further research is needed to clarify causal pathways and long-term effects of in-utero exposure to antibiotics. Full article

Background: Parental satisfaction is an important factor in the evaluation of early intervention programs but is rarely investigated. The Muenster Parental Program (MPP) is a short, evidence-based early intervention program that focuses on parental responsiveness. It is a family-centered intervention for parents of infants aged 3–18 months who have recently been diagnosed with hearing loss and fitted with hearing devices, including prior to or following cochlear implant surgery. Objective: We aim to receive feedback from parents regarding the process and outcomes of their participation in the MPP. Method: Following their participation, all participants of the MPP were asked to complete an evaluation questionnaire. This article reports feedback from the first 52 participants (44 mothers, 7 fathers, and 1 godmother). Their infants (N = 45) had moderate to complete hearing loss, they were aged 2–20 months, and 40% of them had an additional disease, disorder, and/or developmental delay. Results: Parents reported high levels of satisfaction with the content, didactics, setting, and individual benefits of the intervention, and a high recommendation rate (92%). The aspects most appreciated were meeting other affected parents and the concrete individual support of parent–child communication, including video feedback. Almost all parents (96%) reported a change in their communication style with their child. This confirms the results of a previous controlled intervention study on the enhancement of parental responsiveness via the MPP. Conclusions: This evaluation of the MPP from a parental point of view has revealed equally high satisfaction with the content, setting, and didactics amongst all parents regardless of any potentially influential parent or child variables. The MPP is well suited to a wide range of close caregivers’ needs despite the known diversity of children with hearing loss and their parents or families. Full article