Genetic factors, the most common etiology in severe to profound hearing loss, are one of the key determinants of Cochlear Implantation (CI) and Electric Acoustic Stimulation (EAS) outcomes. Satisfactory auditory performance after receiving a CI/EAS in patients with certain deafness gene mutations indicates that genetic testing would be helpful in predicting CI/EAS outcomes and deciding treatment choices. However, because of the extreme genetic heterogeneity of deafness, clinical application of genetic information still entails difficulties. Target exon sequencing using massively parallel DNA sequencing is a new powerful strategy to discover rare causative genes in Mendelian disorders such as deafness. We used massive sequencing of the exons of 58 target candidate genes to analyze 8 (4 early-onset, 4 late-onset) Japanese CI/EAS patients, who did not have mutations in commonly found genes including GJB2, SLC26A4, or mitochondrial 1555A>G or 3243A>G mutations. We successfully identified four rare causative mutations in the MYO15A, TECTA, TMPRSS3, and ACTG1 genes in four patients who showed relatively good auditory performance with CI including EAS, suggesting that genetic testing may be able to predict the performance after implantation.

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Massively Parallel DNA Sequencing Successfully Identifies New Causative Mutations in Deafness Genes in Patients with Cochlear Implantation and EAS

Objectives: Progress has been made in recent years in the provision of amplification and early intervention for children who are hard of hearing. However, children who use hearing aids (HAs) may have inconsistent access to their auditory environment due to limitations in speech audibility through their HAs or limited HA use. The effects of variability in children’s auditory experience on parent-reported auditory skills questionnaires and on speech recognition in quiet and in noise were examined for a large group of children who were followed as part of the Outcomes of Children with Hearing Loss study. Design: Parent ratings on auditory development questionnaires and children’s speech recognition were assessed for 306 children who are hard of hearing. Children ranged in age from 12 months to 9 years. Three questionnaires involving parent ratings of auditory skill development and behavior were used, including the LittlEARS Auditory Questionnaire, Parents Evaluation of Oral/Aural Performance in Children rating scale, and an adaptation of the Speech, Spatial, and Qualities of Hearing scale. Speech recognition in quiet was assessed using the Open- and Closed-Set Test, Early Speech Perception test, Lexical Neighborhood Test, and Phonetically Balanced Kindergarten word lists. Speech recognition in noise was assessed using the Computer-Assisted Speech Perception Assessment. Children who are hard of hearing were compared with peers with normal hearing matched for age, maternal educational level, and nonverbal intelligence. The effects of aided audibility, HA use, and language ability on parent responses to auditory development questionnaires and on children’s speech recognition were also examined. Results: Children who are hard of hearing had poorer performance than peers with normal hearing on parent ratings of auditory skills and had poorer speech recognition. Significant individual variability among children who are hard of hearing was observed. Children with greater aided audibility through their HAs, more hours of HA use, and better language abilities generally had higher parent ratings of auditory skills and better speech-recognition abilities in quiet and in noise than peers with less audibility, more limited HA use, or poorer language abilities. In addition to the auditory and language factors that were predictive for speech recognition in quiet, phonological working memory was also a positive predictor for word recognition abilities in noise. Conclusions: Children who are hard of hearing continue to experience delays in auditory skill development and speech-recognition abilities compared with peers with normal hearing. However, significant improvements in these domains have occurred in comparison to similar data reported before the adoption of universal newborn hearing screening and early intervention programs for children who are hard of hearing. Increasing the audibility of speech has a direct positive effect on auditory skill development and speech-recognition abilities and also may enhance these skills by improving language abilities in children who are hard of hearing. Greater number of hours of HA use also had a significant positive impact on parent ratings of auditory skills and children’s speech recognition.

Speech Recognition and Parent Ratings From Auditory Development Questionnaires in Children Who Are Hard of Hearing.

This study proposed and evaluated a guideline for outcome evaluation for infants and children with hearing loss who wear hearing aids. The University of Western Ontario Pediatric Audiological Monitoring Protocol (UWO PedAMP) was developed following a critical review of pediatric outcome evaluation tools and was systematically examined by the Network of Pediatric Audiologists of Canada. It consists of tools to gather clinical process outcomes as well as functional caregiver reports. The UWO PedAMP was administered to a clinical population of infants and children with hearing aids. Sixty-eight children were administered the functional outcome evaluation tools (i.e., caregiver reports) a total of 133 times. Clinical process outcomes of hearing aid verification (e.g., real-ear-to-coupler difference) revealed typical aided audibility (e.g., Speech Intelligibility Index). Results for the LittlEARS(®) questionnaire revealed that typically developing children with hearing loss who wear hearing aids are meeting auditory development milestones. Children with mild to moderate comorbidities displayed typical auditory development during the 1st year of life after which development began to decline. Children with complex factors related to hearing aid use had lower scores on the LittlEARS, but auditory development was in parallel to norms. Parents' Evaluation of Aural/Oral Performance (PEACH) results indicated no age effect on scoring for children above 2 years of age; however, the effect of degree of hearing loss was significant. This work provides clinicians with a systematic, evidence-based outcome evaluation protocol to implement as part of a complete pediatric hearing aid fitting.

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The University of Western Ontario Pediatric Audiological Monitoring Protocol (UWO PedAMP).

Auditory, speech and language development in young children with cochlear implants compared with children with normal hearing

Objective:Cochlear implantation is the most important treatment currently available for profound sensorineural hearing loss. The aim of this study was to investigate the etiology of hearing loss in patients with cochlear implantation, and to compare outcomes.Methods:Japanese hearing loss patients wh

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A Comprehensive Study on the Etiology of Patients Receiving Cochlear Implantation With Special Emphasis on Genetic Epidemiology.

Validation of the LittlEARS® Auditory Questionnaire in children with normal hearing

Resume Introduction Le questionnaire EAS ( Buss & Plomin, 1984 ) permet la mesure de quatre dimensions heritables et relativement stables du temperament : Activite, Emotivite, Sociabilite et Timidite. Objectif Une traduction francaise de cet outil a fait l’objet d’une etude de validation chez des enfants âges de six a 12 ans ( Gasman et al., 2002 ), notre objectif est d’etendre le processus de validation a un groupe d’enfants plus jeunes. Methode Le temperament de 350 enfants âges entre deux et cinq ans et de 290 enfants âges entre six et neuf ans a ete evalue a l’aide de deux questionnaires : l’EAS et le DOTS-R (versions parent). Resultats Des analyses factorielles confirmatoires multi-groupes ont permis de verifier l’invariance de mesure et l’invariance structurale de l’EAS (modele en quatre facteurs) sur les deux echantillons et ont montre que les scores d’echelles constituent de bonnes approximations des scores factoriels. Par ailleurs, si nous n’avons pas observe de differences significatives liees au sexe dans les scores de temperament, les enfants les plus âges sont en moyenne moins actifs et plus emotifs que les enfants les plus jeunes. Enfin, la coherence interne et la validite concordante de chaque echelle se sont revelees satisfaisantes. Conclusion L’EAS (version parent) peut donc etre utilise des l’âge de deux ans, facilitant ainsi l’etude du developpement du temperament dans l’enfance.

Analyse de la structure factorielle du questionnaire de tempérament EAS (version parents) auprès de deux échantillons d’enfants âgés de deux à cinq ans et de six à neuf ans

Resume La strategie nationale « Autisme au sein des troubles neurodeveloppementaux » preconise la mise en place de dispositifs de soutien et d’accompagnement pour les familles. En effet, les familles d’un enfant presentant un handicap, et plus particulierement un trouble du spectre de l’autisme (TSA), doivent regulierement s’adapter au trouble et a ses manifestations. Le concept de qualite de vie permet d’interroger les difficultes des familles du point de vue des parents et des fratries. Peu de travaux ont cependant evalue la qualite de vie des freres et sœurs, leurs besoins et les effets des accompagnements parfois mis en place. Nous avons realise une revue de la litterature sur la qualite de vie des fratries d’enfants presentant un TSA (bases de donnees : PubMed, PsycINFO et Google Scholar). Nous avons recense 53 etudes publiees entre 1993 et 2019. Les recherches font apparaitre des resultats tres contrastes quant a l’impact du TSA sur la qualite de vie des fratries. Nous presentons ici les resultats, un tiers des etudes concluant a une absence d’impact, un autre tiers observant des effets globalement negatifs, le tiers restant faisant apparaitre des effets mixtes, negatifs et positifs. Les recherches soulignent l’effet particulier des difficultes comportementales des enfants avec un TSA sur le vecu de ses freres et sœurs. Les etudes presentent egalement des differences methodologiques importantes, avec des approches qualitatives ou quantitatives, des differences dans le mode de recueil de donnees et le choix de la dimension comparative. Au plan theorique, les concepts retenus pour mesurer le bien-etre des fratries sont differents selon les etudes. La plupart s’interesse surtout a l’ajustement social et comportemental des fratries, qui n’est qu’un aspect de la qualite de vie.

Qualité de vie des fratries d’enfants avec un trouble du spectre de l’autisme. Revue de littérature

Le but de ce travail est de decrire comment les meres de jumeaux se representent precocement la relation entre les deux enfants et d'examiner s'il existe des influences mutuelles entre les perceptions des meres, leurs comportements et attitudes educatives vis-a-vis de la gemellite et le debut du developpement verbal des enfants. Les donnees portent sur 32 familles de jumeaux (monozygotes, dizygotes de meme sexe et dizygotes de sexe different), rencontrees deux ans apres la naissance pour un entretien semi-structure avec la mere. L'entretien a ete analyse a l'aide d'une grille composee de deux echelles : l'echelle des attitudes et pratiques educatives des meres relatives a la differenciation (degre de similitude/difference et personnalisation des vetements et des jouets des enfants); l'echelle des representations maternelles du lien gemellaire (description de la structure du lien entre les enfants selon cinq dimensions : complicite, rivalite, relations agonistiques, dominance et personnalite). L'evaluation du developpement verbal a ete realisee au moyen d'une adaptation du Brunet-Lezine. Les resultats sont presentes en mettant en relation les indicateurs de developpement verbal, la typologie des meres relative a leurs attitudes et pratiques envers la gemellite et celle relative a leurs representations du lien fraternel gemellaire. Ils sont egalement examines en fonction du type de gemellite.

Attitudes et représentations des mères envers la gémellité a deux ans et développement du langage chez les jumeaux : La gémellité aujourd'hui. Représentations, recherches et pratiques

G. Le Maner-Idrissi

Papers

Validation of the LittlEARS® Auditory Questionnaire in children with normal hearing

Analyse de la structure factorielle du questionnaire de tempérament EAS (version parents) auprès de deux échantillons d’enfants âgés de deux à cinq ans et de six à neuf ans

Qualité de vie des fratries d’enfants avec un trouble du spectre de l’autisme. Revue de littérature

Attitudes et représentations des mères envers la gémellité a deux ans et développement du langage chez les jumeaux : La gémellité aujourd'hui. Représentations, recherches et pratiques