| 1. |
- Brown, C., et al.
(författare)
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On the physics of the infant feeding bottle and middle ear sequela : Ear disease in infants can be associated with bottle feeding
- 2000
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Ingår i: International Journal of Pediatric Otorhinolaryngology. - 0165-5876 .- 1872-8464. ; 54:1, s. 13-20
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Tidskriftsartikel (refereegranskat)abstract
- Background: When using conventional feeding bottles, negative pressure is generated in the oral cavity, as well as, in the bottle when fluid is removed by sucking. The negative pressure inside the bottle causes the infant to suck excessively and the intraoral negative pressure may subsequently be transmitted to the middle ear via the eustachian tube. Methods: In seven infants, simultaneous pressure recordings were performed in the feeding vessel and the middle ear using three types of feeding bottles. Results: With conventional non-ventilated and under-ventilated bottles a negative pressure formed while the infant sucked and negative intratympanic pressure was frequently generated. Conclusions: It is suggested that this sequence of events may lead to secretory otitis and it's accompanying consequences. In contrast, a fully ventilated bottle showed positive pressure throughout the feeding procedure, which is similar to normal breast-feeding, and negative pressure changes were not recorded in the middle ear.
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| 2. |
- Bunne, Marie, et al.
(författare)
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Variability of Eustachian tube function in children with secretory otitis media. Evaluations at tube insertion and at follow-up
- 2000
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Ingår i: International Journal of Pediatric Otorhinolaryngology. - 0165-5876 .- 1872-8464. ; 52:2, s. 131-141
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Tidskriftsartikel (refereegranskat)abstract
- Objective: Despite the variable clinical course of diseases related to Eustachian tube function, the variability of tubal function has been less focused than outcomes of single tests. This study aimed to compare the passive and active tubal function and its variability in children with secretory otitis media (SOM) at tube insertion and at follow-up. Method: Thirty-eight ears in 19 children aged 4-10 years (mean 7.0 years) with long-standing SOM were examined 4-6 h after tube insertion, at 4 months and at 9 months. The pressure in the middle ear and the nasopharynx were recorded while performing (1) forced opening test, (2) equalization of +100 and −100 daPa, (3) Valsalva test, and (4) sniff test. The procedure was repeated after 30 min. Relationships were analyzed by uni- and multi-variate analysis of variance. Results: From tube insertion to 4 months, the mean forced opening pressure increased from 282±128 to 355±153 daPa (P<0.01), and the mean closing pressure from 91±51 to 126±82 daPa (P<0.01). There was no further change at 9 months. Female gender, serous effusion (in contrast to mucoid), and more than three previous episodes of acute otitis media were related to higher opening and closing pressures. At tube insertion, 60% and 16% equalized +100 and −100 daPa, respectively, and 28% succeeded in performing Valsalva inflation. The sniff test was positive in 32%, indicating a closing failure. These rates did not change significantly over time. For individual ears, outcomes of all tests varied considerably when retested after 30 min; Po changed by ±12% and Pc by ±26%, and 9-29% of the ears changed from a positive to negative response, or vice versa, in the equalization, Valsalva, and sniff tests. Conclusions: The unexpected finding of weaker closing forces at the day of tube insertion and increased tubal resistance at follow-up might be ascribed to changes in the muco-adhesive forces related to the disease and tube treatment. The pronounced intra-individual variability of test outcomes indicates that tubal function is dynamic and variable in ears prone to SOM, which emphasizes that results of single tubal function tests have very low prognostic value.
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| 3. |
- Forséni, M., et al.
(författare)
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Detection and localization of interleukin-6 in the rat middle ear during experimental acute otitis media, using mRNA in situ hybridization and immunohistochemistry
- 2001
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Ingår i: International Journal of Pediatric Otorhinolaryngology. - 0165-5876 .- 1872-8464. ; 57:2, s. 115-121
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: Otitis media is one of the most common diseases among children. A well-known sequela of acute, chronic, and secretory otitis media is tympanosclerosis. With the exception of surgery, there is no causal treatment available for this condition, which may cause hearing disabilities. This study aimed to describe the localization of interleukin (IL)-6 mRNA and its gene product in the rat middle ear during pneumococcal otitis media. IL-6 is known to be involved in inflammatory and bone remodeling processes. METHODS: Using an experimental model of pneumococcal acute otitis media, the expression of interleukin IL-6, was analyzed. Sprague-Dawley rats were sacrificed at different time points varying from 1 h to 6 days intervals after inoculation. The middle ears were analyzed by messenger RNA in situ hybridization, and by immunohistochemistry with cell-type specific antibodies directed against IL-6. RESULTS: Transcripts of IL-6 were observed only on day 1 post-inoculation, whereas the final gene product was observed at all intervals after inoculation. IL-6 was localized in the bony part of the bulla nearest to the mucosa, around mucosal vessels, and in the ciliae of the mucosal epithelium. The results demonstrated that IL-6 was synthesized locally as early as 1 h after bacterial middle ear challenge, and that although transcription could not be detected after 24 h, the cytokine product persisted for at least 5 days after the infection was introduced. CONCLUSIONS: IL-6 was shown to be produced early in the inflammatory process during induced pneumococcal otitis media in the rat. No production was seen after 24 h although the protein remained in the tissue for at least 5 days. IL-6 could initiate a differentiation of macrophages to osteoclasts and thereby participate in a bone remodeling process leading to tympanosclerosis development.
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| 4. |
- Hultcrantz, Elisabeth, et al.
(författare)
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Tonsillectomy or tonsillotomy? : a randomized study comparing postoperative pain and long-term effects
- 1999
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Ingår i: International Journal of Pediatric Otorhinolaryngology. - 0165-5876 .- 1872-8464. ; 51:3, s. 171-6
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Tidskriftsartikel (refereegranskat)abstract
- Background: tonsillectomy (TE) is currently the most common treatment for children with snoring and sleep apnea. Many of these children have not had any severe throat infections. To cure such children from their obstructive problems, without influencing the immunological function of the tonsils, tonsillotomy (TT) with CO2-laser was performed in a randomized study comparing it to regular tonsillectomy, with special attention to postoperative pain and symptom recurrence. Method: 41 children 3.5–8 years-old were included — 21 ‘TT’s’ and 20 ‘TE’s’. They were all operated under the same anesthesia and followed the same postoperative scheme for analgesia. A visual analogue scale for pain measurements with faces was used for the first 24 h. After that, each day until pain-free, the parents registered the child’s pain on a three graded scale, what the child was able to eat, and the amount of analgesic drugs used. Results: all the children were cured from their breathing obstruction. The mean time used for the surgery was the same and no postoperative bleeding was seen in either group. ‘TT children’ were pain-free after 5 days and ‘TE children’ after 8 days. Eight to ten days after surgery, the TT-children had gained weight and the TE children lost weight significantly. The TE group used twice as much analgesic drugs as the TT group during the first postoperative week. The TT group was healed with normal-looking, but small tonsils after 8–10 days; the TE group often still showed edema and crusts. At the one-year follow-up 2/21among the ‘TT-children’ snored, but did not require re-surgery. Conclusion: tonsillotomy is much less painful than TE and children recover more quickly. Results with respect to breathing obstruction are almost the same for both methods at 1-year follow-up.
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| 5. |
- Johansson, Ewa, et al.
(författare)
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Tonsillectomy - Clinical consequences twenty years after surgery?
- 2003
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Ingår i: International Journal of Pediatric Otorhinolaryngology. - 0165-5876 .- 1872-8464. ; 67:9, s. 981-988
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Tidskriftsartikel (refereegranskat)abstract
- Tonsillectomy (T) is one of the most common surgical procedures performed on children. Long-term follow-up studies concerning its consequences are lacking. This study is the first study done on a group of patients that underwent T in their childhood, about 20 years ago. The investigation is a cohort study, which followed-up 18 patients who were tonsillectomized 20 years ago. It was to be determined whether these subjects suffer from more respiratory tract infections (or other infections) today, than people who are not tonsillectomized. A group of 54 age-matched subjects were selected for comparison. A questionnaire was mailed to the study population. No significant differences were found between the groups in the frequency of upper respiratory tract infection (URI). The mean number of URI's was approximately [MSOffice1]2.5 per year in both groups. The duration of the URI's was identical in each group. A high temperature was present to the same extent in each group. Absence from work, number of visits to physicians and the use of antibiotics were the same in each group. However, the prevalence of chronic disease was greater in the T-group than in the comparison group. The difference was significant with a Relative Risk of 9.41 and a Confidence Interval differing from 1 (1.13
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| 6. |
- Linder, Arne, et al.
(författare)
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Using the carbon dioxide laser for tonsillotomy in children
- 1999
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Ingår i: International Journal of Pediatric Otorhinolaryngology. - 0165-5876 .- 1872-8464. ; 50:1, s. 31-6
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Tidskriftsartikel (refereegranskat)abstract
- Carbon dioxide laser tonsillotomies were performed on 33 children aged 1-12 years for the relief of obstructive symptoms due to tonsillar hyperplasia. As opposed to conventional tonsillectomy, only the protruding part of each tonsil was removed. A carbon dioxide laser delivering 20 W was used for the excision. Twenty-one children were seen in active short-term follow-up and the records of all the children were checked for possible surgery related events up to 20-33 months after surgery. Laser tonsillotomy was uniformly effective in relieving the obstruction, with good hemostasis. The tonsillar remnants healed completely within 2 weeks. No major adverse events occurred. Post-operative pain appeared slight and easily controlled. There was no gain in operating time compared with conventional tonsillectomy. The laser tonsillotomies were in most cases done in day surgery. No recurrence of obstructive problems was reported up to 20-33 months after surgery. It was concluded that tonsillotomy, using a carbon dixoide laser, is a valid treatment for obstructive symptoms caused by enlarged tonsils, which can be performed with little bleeding and post-operative pain. The improved hemostasis may enable a shift from in-patient to day surgery.
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| 7. |
- Magnúsdóttir, Anna Björk, et al.
(författare)
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Experimental study of the virulence of Streptococcus pneumoniae with reduced susceptibility to penicillin
- 2000
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Ingår i: International Journal of Pediatric Otorhinolaryngology. - 0165-5876 .- 1872-8464. ; 55:1, s. 1-9
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Tidskriftsartikel (refereegranskat)abstract
- Streptococcus pneumoniae is a major cause of morbidity and mortality in all age groups. In a few years, penicillin non-susceptible pneumococci (PNSP) have emerged worldwide as a new threat. In order to better understand the mechanisms behind the rapid expansion of these strains, the virulence of 10 clinical and two transformed PNSP strains were compared with the virulence of three fully susceptible strains in a mouse model of bacteremia and a rat model of acute otitis media. Serotype, antibiotic susceptibility, and to some extent also genetic profile and growth rate of the strains were investigated before inoculation. The animals were monitored for up to 7 days after challenge by clinical examinations/otomicroscopy and cultures from middle ears and blood. The results of the study demonstrated that the PNSP strains had a significantly reduced ability to persist at the infectious site, and to some extent also to induce infections, compared with fully susceptible strains. The reduction was most evident for strains isolated from sources other than blood. It is therefore possible that other factors than virulence factors are of importance for the ability of PNSP strains to expand.
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| 8. |
- Melhus, Åsa, et al.
(författare)
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A resolved pneumococcal infection protects against nontypeable Haemophilus influenzae : an evaluation of different routes of whole cell immunization in protection against experimental acute otitis media
- 1997
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Ingår i: International Journal of Pediatric Otorhinolaryngology. - 0165-5876 .- 1872-8464. ; 39:2, s. 119-131
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Tidskriftsartikel (refereegranskat)abstract
- A conferred cross-protection between Haemophilus influenzae type b (Hib) and nontypeable H. influenzae (NTHi) was demonstrated in a previous study of experimental recurrent otitis media. To explore cross-protection further, and to compare oral administration of whole cells with two more conventional routes for vaccination against acute otitis media (AOM), a total number of 79 rats were immunized perorally, subcutaneously and intrabullarly with H. influenzae or pneumococci and thereafter challenged in the middle ear with NTHi or Hib 4 or 9 weeks later. Otomicroscopic changes, bacterial cultures, and serum IgG antibody levels were monitored. The study demonstrated that while peroral administration did not elicit any protection, a resolved pneumococcal AOM could reduce the susceptibility to reinfection with NTHi. In the latter case no cross-reacting antibodies were detected, but the protective rate was 50% or more, and it was comparable with that found after subcutaneous or intrabullar immunization with homologous NTHi or Hib strains. The results suggest that the protection of the rat middle ear mucosa may involve unspecific responses.
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| 9. |
- Melhus, Åsa, et al.
(författare)
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Effect of Haemophilus influenzae type b conjugate vaccine in combination with peroral immunization with Escherichia coli on experimental otitis media
- 1996
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Ingår i: International Journal of Pediatric Otorhinolaryngology. - : Elsevier BV. - 0165-5876 .- 1872-8464. ; 36:1, s. 1-12
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Tidskriftsartikel (refereegranskat)abstract
- The protective ability of a conjugated Haemophilus influenzae type b vaccine, ACT-HIB, used singly or in combination with orally administered Escherichia coli, was investigated in a rat model for acute otitis media. The humoral response to ACT-HIB was also analyzed. The study demonstrated that ACT-HIB vaccination resulted in a prompt antibody response, and that ACT-HIB was efficient in preventing middle ear infections caused by Haemophilus influenzae type b. The efficiency increased if the vaccine was combined with Escherichia coli. The results suggest that Escherichia coli could possibly be useful in the future as a vaccine vehicle, and since Haemophilus influenzae acute mastoiditis seems to be almost exclusively due to serotype b, the incidence of this infection may be reduced with the conjugated Haemophilus influenzae type b vaccines.
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| 10. |
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| 11. |
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| 12. |
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| 13. |
- Alm, Fredrik, 1983-, et al.
(författare)
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Adherence to Swedish guidelines for pain treatment in relation to pediatric tonsil surgery : A survey of the multidisciplinary team
- 2017
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Ingår i: International Journal of Pediatric Otorhinolaryngology. - : Elsevier. - 0165-5876 .- 1872-8464. ; 101, s. 123-131
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Tidskriftsartikel (refereegranskat)abstract
- Background: Pain management in children after tonsil surgery is essential, and optimal pain treatment has been discussed for many years. Data from the National Tonsil Register in Sweden (NTRS) and a national mapping system have demonstrated the need for national pain treatment guidelines for pediatric tonsil surgery. As a result, Swedish national guidelines, together with updated patient information on the website tonsilloperation.se, were developed and implemented in 2013.Objectives The objective of this study was to evaluate the professionals’ opinions of and adherence to pain treatment guidelines for pediatric tonsil surgery patients in a two-year follow-up.Method: This descriptive cross-sectional study was based on data from an inter-professional questionnaire, which was validated by an expert group using a content validity index (S-CVI 0.93). The questionnaire was sent to all Swedish ear, nose and throat (ENT) departments (n=49) that the NTRS identified as performing tonsil surgery on children younger than 18 years of age. In each clinic, we asked for responses from staff in each of the following professions: ENT physicians, anesthesia physicians, registered nurse anesthetists, and registered nurses in the ENT departments.Results: Respondents from 48 ENT departments participated, and 139/163 (85%) completed questionnaires were returned. The guidelines were reported as being clear, ensuring patient safety and providing optimal pharmacological treatment. Treatment was given according to the guidelines: Half of the departments gave pre- or intraoperative treatment with clonidine, betamethasone and high-dose paracetamol (acetaminophen). A multimodal pain approach (paracetamol and COX inhibitors) after hospital discharge was prescribed by all departments after tonsillectomy and, more extensively, after tonsillotomy. One-third of the departments prescribed paracetamol with a higher normal dose for the first three postoperative days. Half of the departments prescribed rescue analgesics, clonidine or opioids after tonsillectomy. None of the departments prescribed codeine or tramadol, drugs that are discouraged in the guidelines. The majority of the departments used the website tonsilloperation.se to provide information to the patients and their caregivers.Conclusion: The respondents' opinions of and the ENT departments adherence to the Swedish national guidelines were considered to be good. The national implementation process in Sweden has impacted the manner in which ENT departments treat pain after tonsil surgery.
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| 14. |
- Anmyr, Lena, et al.
(författare)
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Children with hearing impairment : living with cochlear implants or with hearing aids
- 2011
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Ingår i: International Journal of Pediatric Otorhinolaryngology. - Amsterdam : Elsevier. - 0165-5876 .- 1872-8464. ; 75:6, s. 844-849
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Tidskriftsartikel (refereegranskat)abstract
- Objective The aim of this study was to enhance knowledge about the life circumstances of children with cochlear implants or hearing aids, regarding daily functioning and attitude to the impairment. Methods Data were obtained from 36 children with cochlear implants and 38 children with hearing aids via study-specific questionnaires with fixed answer alternatives. The questions covered (1) usage of aids and related factors, (2) hearing in different everyday situations, (3) thoughts about the children's own hearing and others’ attitudes to it, and (4) choice of language. The data were analyzed using SPSS, and presented via the theoretical frame of the International Classification of Functioning, Disability and Health, Child and Youth version (ICF-CY). Results Children with CI and HA functioned equally well in daily life, but there were also certain differences. Symptoms from neck and shoulders were more common among children with hearing aids than among children with cochlear implants (p < .001). Children with hearing aids used their aids significantly less often than those with cochlear implants (p < .001). The participation variables showed that children with hearing aids had significantly more hearing problems in team sports (p = .033) and outdoor activities (p = .019), in comparison to children with cochlear implants. The two groups had similar thoughts regarding their own hearing, mostly considering it not to be a problem. They also did not generally think that other people found their hearing to be a problem. Conclusions Children with cochlear implants and children with hearing aids have, in some aspects, equally good functioning in everyday life situations. However, certain differences were found in dimensions of functioning, regarding neck and shoulder pain, usage of aids and sign language, and hearing problems in some activities.
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| 15. |
- Anmyr, Lena, et al.
(författare)
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Sense of coherence, social networks, and mental health among children with a cochlear implant
- 2015
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Ingår i: International Journal of Pediatric Otorhinolaryngology. - : Elsevier BV. - 0165-5876 .- 1872-8464. ; 79:4, s. 610-615
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Tidskriftsartikel (refereegranskat)abstract
- Objective: The aim of this study was to explore the personal and social resources of children with a cochlear implant from a child's perspective. Method: This descriptive cross-sectional study included 19 children with cochlear implants, aged 9-12 years. Data was collected, using the children's sense of coherence (CSOC) scale, the Network map, and the strengths and difficulties questionnaire (SDQ). The data was analyzed using descriptive and correlation statistics. Results: Most children had a strong sense of coherence. School life was an important arena for their social network. The mental health was comparable to normal hearing children. Still, some of the children with implants had low SOC and poor mental health. High SOC and closeness of the social network, especially in school, were associated with good mental health. Conclusion: This study shows that Swedish school-aged children with cochlear implants as a group have access to personal and social resources as strong sense of coherence and social networks. Still, there are individual children with psychosocial problems who need support and treatment.
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| 16. |
- Anmyr, Lena, et al.
(författare)
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Strengths and difficulties in children with cochlear implants : Comparing self-reports with reports from parents and teachers
- 2012
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Ingår i: International Journal of Pediatric Otorhinolaryngology. - : Elsevier BV. - 0165-5876 .- 1872-8464. ; 76:8, s. 1107-1112
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Tidskriftsartikel (refereegranskat)abstract
- Objective: The aim was to explore and compare how children with cochlear implants, their parents, and their teachers perceive the children's mental health in terms of emotional and behavioral strengths and difficulties.Methods: The self-report, parents', and teachers' versions of the Strengths and Difficulties Questionnaire (SDQ) were used to assess the mental health of 22 children with cochlear implants. The children's assessments were then compared to the parents' and 17 teachers' assessments. The data were analyzed using the SPSS software package.Results: Total difficulties (p = .000), emotional symptoms (p = .000), and conduct problems (p = .007) were greater according to the children than according to parents and teachers. Younger children (9 years, n = 12) reported more emotional symptoms than older children (12 and 15 years, n = 10). Almost a quarter of the children rated themselves in a way indicating mental ill-health. Parents and teachers each indicated mental ill-health for one child.Conclusions: Children with cochlear implants express greater concerns about their mental health than their parents and teachers do. This is important knowledge for adults in families, schools, and health care in order to support these children and offer treatment when needed.
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| 17. |
- Benatti, Alice, et al.
(författare)
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Endocochlear inflammation in cochlear implant users : Case report and literature review
- 2013
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Ingår i: International Journal of Pediatric Otorhinolaryngology. - Amsterdam : Elsevier. - 0165-5876 .- 1872-8464. ; 77:6, s. 885-893
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Forskningsöversikt (refereegranskat)abstract
- Objectives: Cochlear implantation is a relatively safe procedure with a low complication rate. The overall rate of complications among cochlear implant patients ranges from 6% to 20%. Major complications are those that are life-threatening or require surgery, whereas minor complications are those that can be medically treated. Nonetheless, certain complications, even if highly rare, may require specific investigations and treatments. Among these rare complications are those with endocochlear involvement, such as cochleitis or labyrinthitis, with fibrosis or ossification that could lead to explantation. The aims of the present study were to report a particular case of post-operative cochleitis and to review the rate of complications after cochlear implantation, emphasising those conditions with proven endocochlear involvement.Methods: We refer to the case of an eight-year-old Italian boy affected by the sudden onset of headache, ipsilateral otalgia and facial paresis, who presented to our clinic for inexplicable worsening of the performance of his implant and his residual hearing, six years after surgery. A complete investigation including (clinical history, routine, autoimmune and serological blood tests, electrophysiological measurements from the cochlear implant and neuroimaging) was performed and is herein described. Additionally, a comprehensive review of the literature was conducted using internet search engines; 274 papers were selected, 88 of which were best suited to our purposes.Results: In our case, the progression of the symptoms and the performance decrement required explantation, followed by a complete recovery. Reviewing the literature revealed only three reports concerning cases of proven endocochlear phlogosis that required revision surgery. Wound swelling/infection and vertigo remain the two most common complications of cochlear implantation. Failure of the device is the third most frequent complication (10.06% of all complications and 1.53% of cochlear implantations). Other rare conditions (such as granulating labyrinthitis with cochlear fibrosis, ossification and erosion, silicone allergy and the formation of a biofilm around the internal device) are possible and unpredictable. Although rare (approximately 1%), such cases may require explantation.Conclusions: Despite efforts by both surgeons and manufacturers, device-related and surgical complications still occur. These and other rare conditions demand specific management, and their frequency may be underestimated. Further studies are needed to assess more realistic rates of complications and devise more efficient strategies for early diagnosis and treatment.
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| 18. |
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| 19. |
- Borg, Erik, et al.
(författare)
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Speech and language development in a population of Swedish hearing-impaired pre-school-children, a cross-sectional study
- 2007
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Ingår i: International Journal of Pediatric Otorhinolaryngology. - : Elsevier BV. - 0165-5876 .- 1872-8464. ; 71:7, s. 1061-1077
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Tidskriftsartikel (refereegranskat)abstract
- Objective: There is little information on speech and language development in preschool children with mild, moderate or severe hearing impairment. The primary aim of the study is to establish a reference material for clinical use covering various aspects of speech and language functions and to relate test values to pure tone audiograms and parents' judgement of their children's hearing and language abilities. Methods: Nine speech and language tests were applied or modified, both classical tests and newly developed tests. Ninety-seven children with normal hearing and 156 with hearing impairment were tested. Hearing was 80 dB HL PTA or better in the best ear. Swedish was their strongest language. None had any additional diagnosed major handicaps. The children were 4-6 years of age. The material was divided into 10 categories of hearing impairment, 5 conductive and 5 sensorineural: unilateral; bilateral 0-20; 21-40; 41-60; 61-80 dB HL PTA. The tests, selected on the basis of a three component language model, are phoneme discrimination; rhyme matching; Peabody Picture Vocabulary Test (PPVT-III, word perception); Test for Reception of Grammar (TROG, grammar perception); prosodic phrase focus; rhyme construction; Word Finding Vocabulary Test (word production); Action Picture Test (grammar production); oral motor test. Results: Only categories with sensorineural toss showed significant differences from normal. Word production showed the most marked delay for 21-40 dB HL: 5 and 6 years p < 0.01; for 41-60 dB: 4 years p < 0.01 and 6 years p < 0.01 and 61-80 dB: 5 years p < 0.05. Phoneme discrimination 21-40 dB HL: 6 years p < 0.05; 41-60 dB: 4 years p < 0.01; 61-80 dB: 4 years p < 0.001, 5 years p < 0.001. Rhyme matching: no significant difference as compared to normal data. Word perception: sensorineural 41-60 dB HL: 6 years p < 0.05; 61-80 dB: 4 years p < 0.05; 5 years p < 0.01. Grammar perception: sensorineural 41-60 dB HL: 6 years p < 0.05; 61-80 dB: 5 years p < 0.05. Prosodic phrase focus: 41-60 dB HL: 5 years p < 0.01. Rhyme construction: 41-60 dB HL: 4 years p < 0.05. Grammar production: 61-80 dB HL: 5 years p < 0.01. Oral motor function: no differences. The Word production test showed a 1.5-2 years delay for sensorineural impairment 41-80 dB HL through 4-6 years of age. There were no differences between hearing-impaired boys and girls. Extended data for the screening test [E. Borg, A. Risberg, B. McAllister, B.M. Undemar, G. Edquist, A.C. Reinholdsson, et at., Language development in hearing-impaired children. Establishment of a reference material for a ""Language test for hearing-impaired children"", Int. J. Pediatr. Otorhinolaryngot. 65 (2002) 15-26] are presented. Conclusions: Reference values for expected speech and language development are presented that cover nearly 60% of the studied population. The effect of the peripheral hearing impairment is compensated for in many children with hearing impairment up to 60 dB HL. Above that degree of impairment, language delay is more pronounced, probably due to a toss of acuity. The importance of central cognitive functions, speech reading and signing for compensation of peripheral limitations is pointed out.
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| 20. |
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| 21. |
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| 22. |
- Busi, Micol, et al.
(författare)
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Novel mutations in the SLC26A4 gene
- 2012
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Ingår i: International Journal of Pediatric Otorhinolaryngology. - Amsterdam : Elsevier. - 0165-5876 .- 1872-8464. ; 76:9, s. 1249-1254
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Tidskriftsartikel (refereegranskat)abstract
- Objectives: Mutations in the SLC26A4 gene (7q22.3–7q31.1) are considered one of the most common causes of genetic hearing loss. There are two clinical forms related to these mutations: syndromic and non-syndromic deafness. The first one is named Pendred Syndrome (PS) when deafness is associated with thyroid goiter; the second is called DFNB4, when no other symptoms are present. Both are transmitted as an autosomal recessive trait, but simple heterozygotes can develop both forms of deafness. Actually it is thought that Pendred Syndrome occurs when both alleles of SLC26A4 gene are mutated; DFNB4 seems due to monoallelic mutations. PS and DFNB4 can be associated with inner ear malformations. In most of the cases (around 80%), these consist in Enlarged Vestibular Aqueduct (EVA). EVA can also be present without SLC26A4 mutations.Understanding the role of new SLC26A4 variants should facilitate clinical assessment, as well as diagnostic and therapeutic approaches. This investigation aims to detect and report genetic causes of two unrelated Italian boys with hearing loss.Methods: Patients and family members underwent clinical, audiological and genetic evaluations. To identify genetic mutations, DNA sequencing of SLC26A4 gene (including all 21 exons, exon-intron boundaries and promoter region) was carried out.Results: Both probands were affected by congenital, progressive and fluctuating mixed hearing loss. Temporal bone imaging revealed a bilateral EVA with no other abnormalities in both cases. Probands were heterozygotes for previously undescribed mutations in the SLC26A4 gene: R409H/IVS2+1delG (proband 1) and L236P/K590X (proband 2). No other mutations were detected in GJB2, GJB6 genes or mitochondrial DNA (mit-DNA).Conclusions: The IVS2+1delG and K590X mutations have not yet been described in literature but there is some evidence to suggest that they have a pathological role. The results underlined the importance of considering the complete DNA sequencing of the SLC26A4 gene for differential molecular diagnosis of deafness, especially in those patients affected by congenital, progressive and fluctuating mixed hearing loss with bilateral EVA.
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| 23. |
- Castiglione, Alessandro, 1976-, et al.
(författare)
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EYA1-related disorders : two clinical cases and a literature review
- 2014
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Ingår i: International Journal of Pediatric Otorhinolaryngology. - Amsterdam : Elsevier. - 0165-5876 .- 1872-8464. ; 78:8, s. 1201-1210
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Forskningsöversikt (refereegranskat)abstract
- Objectives: To delineate the diagnostic and rehabilitative aspects of syndromes that have overlapping features, we present the cases of two unrelated Caucasian males affected by hearing impairment, preauricular pits and cervical fistulae. Specific findings that are helpful in the diagnosis and management of EYA1-related disorders are highlighted.Methods: Genetic, otologic, imaging, eye and renal evaluations were conducted to achieve a detailed and comprehensive assessment, leading to the most accurate diagnosis and appropriate treatment. A literature review was also carried out.Results: Diagnostic criteria indicated that the two patients were affected by BOS1 (Branchio-Otic Syndrome 1). We also identified a novel sporadic missense mutation in the EYA1 gene: p.G533R (c.1597G>A, NM_000503.4), a highly conserved, heterozygotic amino acid substitution. In the other case, we identified the p.X593QextX6 (c.1777T>A, NM_000503.4) substitution. Both variants lead to isoform 1 (EYA1B and EYA1C) which is composed of 592 amino acids. Clinical and in silico evidence suggests a pathogenic role for the new mutations. Imaging evaluation revealed a complex pathology, characterized by external, inner and middle ear malformations, without renal anomalies.Conclusions: Our results demonstrate the importance of considering the imaging evaluation and the complete DNA sequencing of the EYA1 gene for the differential diagnosis of deafness and related branchio-oto-renal disorders.
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