Hearing loss in Norwegian adults with achondroplasia.

BACKGROUND: Achondroplasia is the most common form of disproportionate skeletal dysplasia. The condition is caused by a mutation in the FGFR3 gene, affecting endochondral bone growth, including the craniofacial anatomy. Recurrent otitis media infections, chronic middle ear effusion, and hearing loss are common in children with achondroplasia, but few studies have investigated hearing loss in adults with this condition. OBJECTIVES: This population-based study investigated the prevalence, severity, and type of hearing loss in Norwegian adults with achondroplasia. METHODS: We collected data on 45 adults with genetically confirmed achondroplasia: 23 men and 22 women, aged 16-70 years. All participants underwent a comprehensive audiologic assessment, including medical history, pure-tone audiometry, speech audiometry, and impedance audiometry. According to the Global Burden of Disease classification, pure-tone average ≥ 20 decibel hearing level (dB HL) was considered clinically significant hearing loss. RESULTS: Insertion of ventilation tubes had been performed in 44% (20/45) of the participants, 49% (22/45) had a history of adenoidectomy, while 20% (9/45) used hearing aids. Hearing loss in at least one ear was found in 53% (24/45) of the participants; in 57% (13/23) of the men and 50% (11/22) of the women. In the youngest age group (age 16-44 years), 50% (14/28) had hearing loss, although predominantly mild (20-34 dB HL). An abnormal tympanometry (Type B or C) was found in 71% (32/45) of the participants. The majority (15/24) had conductive hearing loss, or a combination of conductive and sensorineural hearing loss (8/24). CONCLUSIONS: Adults with achondroplasia are at increased risk of early hearing loss. Our findings underline the importance of a regular hearing assessment being part of standard care in achondroplasia, including adolescents and young adults. In adult patients diagnosed with hearing loss, an evaluation by an otolaryngologist should be considered, and the need for hearing aids, assistive listening devices, and workplace and educational accommodations should be discussed. Clinical trial registration ClinicalTrials.gov identifier NCT03780153.

Obstructive sleep apnea in Norwegian adults with achondroplasia: a population-based study.

BACKGROUND: Previous studies have found a high prevalence of obstructive sleep apnea (OSA) in children with achondroplasia, but clinical studies on this complication in adults with achondroplasia are lacking. OBJECTIVES: This population-based, cross-sectional study investigated the prevalence, severity, and predictive factors of OSA in Norwegian adults with achondroplasia. METHODS: We collected clinical data on 49 participants. Participants without a preexisting diagnosis of OSA had an overnight sleep registration. OSA was defined as an apnea-hypopnea index (AHI) ≥ 5 plus characteristic clinical symptoms, or AHI ≥ 15. We used the Berlin Questionnaire to assess clinical symptoms of OSA. RESULTS: OSA was found in 59% (29/49) of the participants (95% confidence interval 44 to 73%), of whom 59% (17/29) had moderate to severe OSA (AHI ≥ 15), and 48% (14/29) were previously undiagnosed. Variables predictive of OSA were: excessive daytime sleepiness; unrested sleep; loud snoring; observed nocturnal breathing stops; hypertension; age > 40 years; and BMI > 30 kg/m2. CONCLUSION: OSA was highly prevalent in Norwegian adults with achondroplasia, which we believe is representative of this population worldwide. Follow-up of adults with achondroplasia should include assessment of symptoms and signs of OSA, with a low threshold for conducting an overnight sleep registration if findings suggestive of OSA are present.

Surgery for obstructive sleep apnea in young children: Outcome evaluated by polysomnograhy and quality of life.

PURPOSE: Hypertrophy of adenoid and tonsils is the most common risk factor for OSA in children, and adenotonsillectomy is considered the first-line treatment. The effect of surgery for OSA in children varies considerably between studies, and few studies have focused on the effect in young children under 5 years of age. Thus, the aim of this study was to: 1) evaluate the effect of surgery for OSA in young children using objective data from polysomnography and parent-reported symptoms using questionnaires, and 2) identify predictors of residual OSA following surgery. METHODS: This is a prospective cohort study of children aged 2-4 years who were referred for surgery to treat OSA. Measures collected before and after surgery included polysomnography (PSG), Pediatric Sleep Questionnaire (PSQ), OSA-18 and clinical data. RESULTS: 56 children completed a preoperative and postoperative PSG. Their median age was 3.1 (IQR 2.6-3.1) years. After surgery, 63% had an obstructive apnea hypopnea index (OAHI) < 1, 82% had an OAHI < 2 and 95% had an OAHI < 5. Parent-reported OSA-18 and PSQ scores improved significantly after surgery. In logistic regression analyses, higher preoperative OAHI was the only significant clinical predictor of residual OSA after surgery. CONCLUSION: There was a high resolution rate after surgery for OSA in this group of young children, with significant improvements in both the OAHI measured with PSG and parent-reported symptoms. The only clinical predictor of residual OSA after surgery was higher preoperative OAHI.

Correlations between disease-specific quality of life and polysomnographic findings in children with obstructive sleep apnea.

OBJECTIVES: Obstructive sleep apnea (OSA) can have a negative impact on quality of life in children. The OSA-18 is a disease-specific quality of life questionnaire for children. The questionnaire has been found to be a poor predictor of OSA diagnosed with polysomnography (PSG), yet OSA-18 scores do markedly improve after adenotonsillectomy. The aim of this study was to examine the correlations between OSA-18 and PSG findings, beyond the apnea hypopnea index (AHI). METHODS: This study was a prospective study of children 2-6 years of age who were referred to an Ear, Nose and Throat department for adenoidectomy and/or tonsillectomy. Prior to surgery, all of the children underwent PSG and a physical examination, and their parent completed the OSA-18 questionnaire. Spearman correlations were used to determine the associations between OSA-18 scores and PSG parameters. RESULTS: The sample consisted of 97 children who underwent PSG and their parents who answered the OSA-18 questionnaire. We found positive correlations between the AHI and both the OSA-18 total score (rho = 0.21, p = 0.04) and the sleep disturbance subscale (rho = 0.51, p < 0.01). The only other PSG parameter that significantly correlated with the OSA-18 was the number of awakenings and arousals per hour of sleep (rho = 0.29, p < 0.01). CONCLUSION: We only found weak correlations between the OSA-18 score and PSG findings, suggesting the two methods are measuring different aspects of pediatric OSA. CLINICAL TRIAL: NCT02233166.

Obstructive sleep apnea in 2-6 year old children referred for adenotonsillectomy.

PURPOSE: Adenotonsillectomy is one of the most common surgical procedures performed in children. The indications for surgery are either frequent recurrent throat infections or hypertrophy of the tonsils/adenoid vegetation, which can cause obstructive sleep apnea (OSA). There is disagreement regarding the need for sleep studies before adenotonsillectomy to confirm a diagnosis of OSA. Several studies have evaluated questionnaires and physical examination as tools to identify OSA, with conflicting results. The aim of this study was to evaluate the prevalence of OSA among children referred for adenotonsillectomy and whether questionnaires or physical examination can help identify OSA. METHODS: This is a prospective cohort study of children aged 2-6 years, referred for adenotonsillectomy. Polysomnography and an otorhinological examination were performed. Tonsillar size and the oral cavity were graded using Friedman's classification and Mallampati score, respectively. The Pediatric Sleep Questionnaire (PSQ) and OSA-18 were also completed. RESULTS: 100 children were included. The prevalence of OSA was 87%, with 52% having moderate to severe OSA. The usefulness of the PSQ and OSA-18 for detecting OSA was evaluated using multiple cutoff points, but none yielded acceptable values for both sensitivity and specificity. In logistic regression analyses predicting different levels of OSA severity, age, Friedman tonsillar size and Mallampati score were weakly associated with OSA. CONCLUSIONS: The prevalence of OSA is high among children referred for adenotonsillectomy and questionnaires and clinical characteristics are not sensitive enough to detect the presence or severity of OSA.

Sleep-related groaning: prevalence and characteristics in a cohort of patients with suspected obstructive sleep apnea.

CONCLUSION: Nocturnal groaning has the same prevalence in patients referred for diagnosis of sleep-disordered breathing as among other populations referred for sleep studies. The respiratory tracings in these patients have a distinct appearance that is possible to recognize with a polygraphic recording and thereby prevent the pattern from being misdiagnosed as central apneas. OBJECTIVES: The aim of this study was first to estimate the prevalence of groaning in patients referred for diagnosis of sleep-related breathing disorders. Second, we wanted to describe the respiratory pattern in order to distinguish the patients from patients with sleep apnea. METHODS: This was a prospective study in 1004 patients, performed in the Sleep Unit in our ENT Department, during a 12 month period. RESULTS: Four patients were diagnosed with video polysomnography, and the diagnosis of nocturnal groaning was confirmed. The prevalence of groaning in our sleep laboratory was 0.4%. All the patients had a mild form of sleep-related disturbance, and all groaning episodes occurred during REM sleep. The groaning events appeared in clusters. The length of each groan varied between 4 and 38 s. The number of events in a period varied between 2 and 11, and the length of each groaning period ranged between 11 and 168 s.