Socialinė sveikatos nelygybė: vaikų kochlearinės implantacijos Lietuvoje rezultatai

The aim of this study was to evaluate the demographic, family, and educational differences in children’s speech perception development after cochlear (hearing) implantation. The research was conducted in Vilnius University Hospital Santaros Klinikos during the years 2013–2018. Open-set speech perception in quiet surroundings were evaluated during hearing assessments (n=81). Information about different factor groups was collected according to the Nottingham Children’s Implant Profile questionnaire. Three main factor groups were analysed: (a) demographic, (b) family, and (c) educational. A Bourdieu-based approach was adopted to analyse social inequalities of health of children with cochlear implants. Different factors were operationalized as different forms of capital. Our findings highlight the importance of family’s social and cultural capital to children speech perception after cochlear implantation. Šio tyrimo tikslas įvertinti vaikų su kochleariniais (klausos) implantais kalbos suvokimo raidos demografinius, šeimos ir lavinimo veiksnius. Tyrimas atliktas 2013–2018 metais Vilniaus universiteto ligoninės Santaros klinikose. Klausos raida buvo įvertinta naudojant atvirojo tipo kalbos suvokimo testus, kurie atlikti tylioje aplinkoje (n=81). Informacija apie skirtingas veiksnių grupes surinkti remiantis Notingemo kochlearinės implantacijos profilio klausimynu. Tyrimo metu buvo nagrinėtos trys pagrindinės veiksnių grupės: demografiniai, šeimos ir lavinimo veiksniai. Gauti rezultatai nagrinėti sveikatos nelygybės teorinių prieigų kontekste, pasitelkiant P. Bourdieu teorines įžvalgas. Skirtingi veiksniai buvo operacionalizuoti kaip skirtingos kapitalo formos. Tyrimo rezultatai pabrėžė šeimos socialinio ir kultūrinio kapitalo svarbą vaikų su kochleariniais implantais kalbos suvokimo raidai

Kochlearinė implantacija Lietuvoje: paplitimas ir sistemos apžvalga

[only abstract and keywords in English; full article, abstract and keywords in Lithuanian] Previous researches have shown that cochlear implantation (or hearing implantation) together with hearing recovery program provides successful social integration for children with sensorineural hearing loss. Cochlear implantation is implemented from 1998 in Lithuania. About 377 people were implanted until the end of 2017. Vast majority of whom are children. Most of the studies carried out in this field are dealing with clinical or technical aspects. There is a lack of research related to aspects of health policy or social integration problems. We overview the system of cochlear implantation, prevalence, and patients’ pathway in this paper. We use a document analysis and descriptive statistics methodologies in this study. To the authors knowledge this is the first study overviewing cochlear implantation system in Lithuania.[straipsnis, santrauka, reikšminiai žodžiai lietuvių kalba; santrauka ir reikšminiai žodžiai anglų kalba] Anksčiau atliktų tyrimų rezultatai rodo, kad kochlearinė (klausos) implantacija kartu su nuosekliai įgyvendinama klausos lavinimo programa gali užtikrinti sėkmingą kurčių vaikų socialinę integraciją. Kochlearinė implantacija Lietuvoje atliekama nuo 1998 metų. Iki 2017 metų pabaigos šalyje implantuoti 377 asmenys, dauguma iš jų – vaikai. Daugelis šios srities tyrimų yra skirta klinikiniams ar technologiniams kochlearinės implantacijos aspektams nagrinėti, tačiau trūksta darbų, kuriuose būtų nagrinėjami sveikatos politikos ir socialinės integracijos klausimai. Straipsnyje apžvelgiama dabartinė kochlearinės implantacijos sistema, implantacijų paplitimas ir paciento kelias. Tyrime derinami teisės aktų bei kitų dokumentų analizės ir aprašomosios statistikos metodai. Straipsnio autorių žiniomis, tai pirmas tyrimas, skirtas kochlearinės implantacijos sistemos apžvalgai Lietuvoje

Vaikų kochlearinės implantacijos funkciniai rezultatai ir prognostiniai veiksniai

The data of 122 pediatric cochlear implant users was analysed in this multicenter, interdisciplinary, cross-sectional study. The aim of the study was to assess the results of pediatric cochlear implantation and determine their prognostic factors. The etiological profile of hearing loss amongst pediatric cochlear implant users was identified after genetic testing, detection of CMV DNA in dried blood spots and analysis of perinatal risk factors. The main etiological factor in the present study was the non-syndromic hearing loss. The prevalence of inner ear malformations in the group of pediatric CI users was established after the analysis of temporal bone CT images. The present study also evaluated speech perception, and speech and language development outcomes after pediatric CI. Demographic, audiologic, surgical, implant-associated, etiological, radiological, family, rehabilitation and education-related factors were analysed in order to find the association with postoperative results. An analysis of prognostic factors revealed that results of speech perception and language development of pediatric CI users are mostly associated with family, education and rehabilitation-related factors. A multivariate regression analysis proved that the age at implantation, postoperative CI-aided thresholds and the diameter of the bony cochlear nerve canal are the independent prognostic factors of speech perception after pediatric CI. Results of speech and language development depend on parents’ engagement in child’s learning process and accessibility of speech and language therapy

The functional results and prognostic factors of pediatric cochlear implantation

The data of 122 pediatric cochlear implant users was analysed during this multicenter, interdisciplinary, cross-sectional study. The aims of the study were to assess the results of cochlear implantation (CI) in children and determine their prognostic factors. The etiological profile of hearing loss amongst pediatric cochlear implant users was identified by performing genetic testing, detecting CMV DNA in dried blood spots and analyzing perinatal risk factors. The major etiology in our study was non-syndromic hearing loss. The prevalence of inner ear malformations in the group of pediatric CI users was established after analysis of temporal bone CT images. Speech perception and speech and language development outcomes after pediatric cochlear implantation were evaluated during this study. Demographic, audiologic, surgical, implant-associated, etiological, radiological, family, rehabilitation and education-related factors were analysed in order to find the relation to postoperative results. An analysis of prognostic factors revealed that results of speech perception and language development of pediatric CI users are mostly associated with family, education and rehabilitation – related factors. A multivariate regression analysis proved that age at implantation, postoperative CI-aided thresholds and the diameter of the bone cochlear nerve canal are independent prognostic factors of speech perception after pediatric CI. Results of speech and language development depend on parents’ engagement in child’s learning process and accessibility of speech and language therapy

Vaikų gyvenimo kokybės po kochlearinės implantacijos vertinimas

Background. Cochlear implantation (CI) is the main treatment method for deaf children. CI influences not only communication, but also psychosocial outcomes in children with severe to profound hearing loss. Focusing on issues specific to CI (e.g., self-reliance, social relations, education) may provide a more accurate and relative view of functional status of paediatric cochlear implant users. The objectives of this study were to translate into Lithuanian and adapt an international questionnaire of the quality of life after cochlear implantation and to evaluate parental perspectives regarding CI and the child’s progress after a minimum of two years after surgery. Materials and methods. The parental questionnaire The Children with Cochlear Implants: Parental Perspectives CCIPP was used to evaluate the quality of life following cochlear implantation. The questionnaire includes 74 items covering two main domains: decision-making (26 items) and the outcomes of implantation (48 items). Quality of life is estimated according to the scores of eight sub-domains: communication, general functioning, well-being, self-reliance, social relations, education, effects of implantation, and supporting the child. Results. The paediatric sample consisted of 11 (39%) girls and 17 (61%) boys, whose mean age at the time of cochlear implantation was 2.41 ± 2.25 years, mean duration of the implant use 3.7 ± 1.3 years. All the grand means in the outcomes of implantation domain exceeded 3 on the 5-point scale, meaning that parents viewed the quality of life of their children as either average or better. Parents rated the sub-domains of communication (3.90 ± 0.77 points), social relations (4.05 ± 0.41), and supporting the child (3.89 ± 0.49) most positively. Conclusions. According to parents, the quality of life improves after the cochlear implantation, especially in the fields of communication, social relations and supporting the child

Early outcomes of cochlear implantation in children

The present study aims are to clarify causes of congenital hearing loss in children who received cochlear implant (CI) and to evaluate the early outcomes after cochlear implantation. 46 children with congenital deafness who underwent cochlear implantation were assessed prior to and 12 months after activation of the CI. The average hearing threshold measured by auditory brainstem response (ABR) audiometry was 98,2 dB. The average age of diagnosis of hearing loss for all 46 children was 14,6 months. Molecular genetic testing was performed for 21 patients. 12 cases of genetic non-syndromic connexin mutation related deafness were identified and two syndromes – CHARGE and Jacobsen were diagnosed. Of the causes identified, a genetic mechanism was present in 30,4% of the cases, peripartal problems in 23,9%, congenital cytomegalovirus infection in 2,2%, postnatal infection 4,3%, and in 39,1% of the cases etiologic factor remained unknown. According to CT imaging findings, 3 children showed inner ear anomalies: 2 Mondini malformations and a narrow internal auditory canal, and one partial cochlear ossification. The majority of children (30; 65,2%) were implanted before 24 months of age. The average age at implantation was 25,4 months. Outcomes were measured using the Categories of Auditory Performance (CAP) score. For all children, the CAP score increased after implantation. After 12 months 28 (60,9%) children had a CAP score of 4 or 5 (discriminates speech sounds or understands common phrases without lipreading). This study demonstrates that the better auditory performance was achieved by children who were implanted at a younger age. So, since one third of the cases of congenital deafness is due to genetic factors, molecular genetic testing plays a central role in the evaluation of the etiology and should be extended. Hearing loss for most of the children was diagnosed late, thus it is necessary to introduce the universal newborn hearing screening in our country. Further studies to evaluate late outcomes as well as determine prognostic factors in our population of implanted children are needed

A novel CHD7 variant disrupting acceptor splice site in a patient with mild features of CHARGE syndrome: a case report

Background CHARGE syndrome (MIM# 214800)—which is characterised by a number of congenital anomalies including coloboma, ear anomalies, deafness, facial anomalies, heart defects, atresia choanae, genital hypoplasia, growth retardation, and developmental delay—is caused by a heterozygous variant in the CHD7 (MIM# 608892) gene located on chromosome 8q12. We report the identification of a novel c.5535-1G > A variant in CHD7 and provide the evaluation of its effect on pre-mRNA splicing. Case presentation In this study, we report on a female presenting features of CHARGE syndrome. A novel heterozygous CHD7 variant c.5535-1G > A located in the acceptor splice site of intron 26 was identified in the proband’s DNA sample after analysis of whole exome sequencing data. In silico predictions indicating that the variant is probably pathogenic by affecting pre-mRNA splicing were verified by genetic analysis based on reverse transcription of the patient’s RNA followed by PCR amplifications performed on synthesised cDNA and Sanger sequencing. Sanger sequencing of cDNA revealed that the c.5535-1G > A variant disrupts the original acceptor splice site and activates a cryptic splice site only one nucleotide downstream of the pathogenic variant site. This change causes the omission of the first nucleotide of exon 27, leading to a frameshift in the mRNA of the CHD7 gene. Our results suggest that the alteration induces the premature truncation of the CHD7 protein (UniProtKB: Q9P2D1), thus resulting in CHARGE syndrome. Conclusion Genetic analysis of novel splice site variant underlines its importance for studying the pathogenic splicing mechanism as well as for confirming a diagnosis

Etiological profile of hearing loss amongst Lithuanian pediatric cochlear implant users

article no. 110043Introduction: Congenital sensorineural hearing loss is a heterogeneous disorder; its etiological profile varies between populations. Pathogenic variants of GJB2 gene are the major cause of non-syndromic hearing loss. Congenital cytomegalovirus infection (cCMV) is the most important prenatal etiological factor causing hearing loss and other disorders. Perinatal events, syndromes, postnatal infections or traumas are less common. Causes of the remaining one third of hearing loss cases are unknown. Objectives: To determine the etiological profile of hearing loss in pediatric cochlear implant users in Lithuanian population. Methods: The data of 122 children (70 male/52 female; aged 7.6 ± 3.3 years) cochlear implant users were analysed. Medical records of all children recruited in Santaros Clinics (Vilnius, Lithuania) were analysed to identify prenatal, perinatal, or postnatal risk factors based on the adapted list proposed by the Joint Committee of Infant Hearing. Genetic counselling and testing according to the scheme were performed to 101 children. DNA of 117 children was extracted from the DBS on Guthrie cards and CMV DNA detected using real time PCR. Results: Non-syndromic hearing loss was diagnosed in 65 cases (53.3%), 58 of which were GJB2 gene-associated; syndromic hearing loss was diagnosed to 8 children (6.6%). Perinatal (prematurity, low birth weight, hypoxia, hyperbilirubinemia, sepsis, ototoxicity, and meningitis) and postnatal (meningitis) risk factors were associated with hearing loss in 16 (13.1%) and 4 (3.3%) study participants respectively. CMV DNA was detected in 12 samples (9.8%). The cause of hearing loss remained unknown only for 17 (13.9%) children. Conclusions: The major cause of HL in the current study was GJB2 gene alterations. [...]Vilniaus universiteta