Effect of continuous positive airway pressure therapy on recurrence of atrial fibrillation after pulmonary vein isolation in patients with obstructive sleep apnea: A randomized controlled trial.

BACKGROUND: Obstructive sleep apnea (OSA) is associated with atrial fibrillation (AF). Whether treatment with continuous positive airway pressure (CPAP) reduces AF recurrence after catheter ablation with pulmonary vein isolation (PVI) is unknown. OBJECTIVE: The purpose of this study was to assess the effect of CPAP treatment on the recurrence and burden of AF after PVI in patients with OSA. METHODS: We randomized patients with paroxysmal AF and an apnea-hypopnea index (AHI) ≥15 events/hour to treatment with CPAP or standard care. Heart rhythm was monitored by an implantable loop recorder. AF recurrence after PVI was defined as any episode of AF lasting >2 minutes after a 3-month blanking period. RESULTS: PVI was performed in 83 patients. Thirty-seven patients were randomized to CPAP treatment and 46 patients to standard care. The AHI was reduced from 26.7 ± 14 events/hour to 1.7 ± 1.3 events/hour at follow-up in the CPAP group (P = .001). A total of 57% of patients in both the CPAP group and the standard care group had at least 1 episode of AF 3-12 months after PVI (P for difference = 1). AF burden after ablation was reduced in both groups, with no between-group difference (P = .69). CONCLUSION: In patients with paroxysmal AF and OSA, treatment with CPAP did not further reduce the risk of AF recurrence after ablation. PVI considerably reduced the burden of AF in OSA patients, without any difference between groups.

Effect of Continuous Positive Airway Pressure on Arrhythmia in Atrial Fibrillation and Sleep Apnea: A Randomized Controlled Trial.

Rationale: Sleep apnea (SA) is highly prevalent in patients with atrial fibrillation (AF), and both conditions are associated with adverse cardiovascular outcomes.Objectives: To determine the effect of continuous positive airway pressure (CPAP) on AF burden.Methods: This open-label, parallel-group, randomized controlled trial included patients with paroxysmal AF and moderate to severe SA (apnea-hypopnea index ⩾15). A computerized system randomized eligible patients (1:1) to 5 months' treatment with CPAP plus usual care (CPAP, n = 55) or usual care alone (control, n = 54). The outcome assessment was blinded. The planned primary outcome was the difference between CPAP treatment and control groups in change of AF burden (percentage of time in AF) as measured by implantable loop recorder.Measurements and Main Results: A total of 579 patients with paroxysmal AF had respiratory polygraphy, of whom 244 (42%) had moderate to severe SA. Of these, 158 (65%) participated in the CPAP run-in period, of whom 39 (25%) patients did not tolerate the treatment. A total of 108 patients were available for the primary analysis. The mean time in AF decreased from 5.6% at baseline to 4.1% during the last 3 months of CPAP intervention and from 5.0% to 4.3% in the control group. The adjusted between-group difference at follow-up was -0.63 (95% confidence interval, -2.55 to 1.30) percentage points (P = 0.52). Seven serious adverse events (13%) occurred in the CPAP group, and two (4%) occurred in the control group.Conclusions: In patients with paroxysmal AF and SA, treatment with CPAP did not result in a statistically significant reduction in the burden of AF.Clinical trial registered with www.clinicaltrials.gov (NCT02727192).

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.

Comparing manual and automatic scoring of sleep monitoring data from portable polygraphy.

We used sleep monitoring data from a study that investigated the prevalence, characteristics, risk factors and type of sleep apnea (SA) in 579 patients with paroxysmal atrial fibrillation. Most patients were screened for two nights, resulting in 1,043 sleep recordings that each contained data from one night. SA was diagnosed using the Nox T3 portable sleep monitor. An experienced sleep specialist scored the recordings manually using Noxturnal software. A total of 157 women (27%) and 422 men (73%) were examined; 477 (82.7%) had an apnea-hypopnea index (AHI) ≥ 5/hr, whereas moderate to severe SA (AHI ≥ 15/hr) was diagnosed in 243 patients (42.1%). The AHI derived from automatic and manual scoring showed a good agreement (Pearson's r coefficient of 0.96). The median difference in AHI was very small (i.e., 0.72 [mean difference, 1.06]), but was statistically significant (p < .0001). Automatic scoring classified sleep recordings with more than 90% accuracy into SA categories of mild (AHI ≥ 5/hr), moderate (AHI ≥ 15/hr) and severe (AHI ≥ 30/hr). We found a minor (11%-21%) mis-estimation of the number of recordings right above and below the boundary separating mild and moderate SA. The accuracy of automatic scoring differed from recording to recording, especially regarding the sensitivity of detecting disrupted breathing events. We found low to moderate agreement for the duration of disrupted breathing events (r = .53), for which the automatic scoring led to a statistically significant overestimation by 5.22 s (p < .0001).

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.

Treatment of sleep apnea in patients with paroxysmal atrial fibrillation: design and rationale of a randomized controlled trial.

RATIONALE: Atrial fibrillation is associated with increased mortality as well as morbidity. There is strong evidence for an association between atrial fibrillation and sleep apnea. It is not known whether treatment of sleep apnea with continuous positive airway pressure (CPAP) will reduce the burden of atrial fibrillation. OBJECTIVE: The Treatment of Sleep Apnea in Patients with Paroxysmal Atrial Fibrillation study will investigate the effects of CPAP in patients with paroxysmal atrial fibrillation and sleep apnea. DESIGN: The trial has a dual center, randomized, controlled, open-label, parallel design. METHODS: Two centers will enroll a total of 100 patients with both paroxysmal atrial fibrillation and sleep apnea (apnea-hypopnea index [AHI] ≥ 15 events/h) who are scheduled for catheter ablation. Patients will be randomized in a 1:1 ratio to CPAP or control group (50 patients in each arm). The effects of CPAP treatment on atrial fibrillation will be determined using an implanted loop recorder (Reveal LINQ™, Medtronic) that detects all arrhythmia episodes. The primary endpoint is a reduction of the total burden of atrial fibrillation in the intervention group, after 5 months' follow-up (preablation). Reduction in the arrhythmia recurrence rate after ablation is the main secondary endpoint. All patients will be followed up for 12 months after ablation. CONCLUSION: This study is the first randomized controlled trial that will provide data on the effects of CPAP therapy in patients with paroxysmal atrial fibrillation and sleep apnea. The results are expected to improve our understanding of the interaction between paroxysmal atrial fibrillation and sleep apnea. ClinicalTrials.gov Identifier. NCT02727192.

Risk factors for aggressive recurrent respiratory papillomatosis in adults and juveniles.

In this cohort study we examined whether gender, age at onset, observation time or human papillomavirus (HPV) genotype are risk factors for an aggressive clinical course in Recurrent Respiratory Papillomatosis (RRP). Clinical data from patient records comprised gender, age at onset, date of first endolaryngeal procedure with biopsy, date of last follow-up, total number of endolaryngeal procedures, and complications during the observation period. Disease was defined as juvenile (JoRRP) or adult onset (AoRRP) according to whether the disease was acquired before or after the age of 18. Aggressive disease was defined as distal spread, tracheostomy, four surgical operations annually or >10 surgeries in total. DNA was extracted from formalin-fixed paraffin-embedded tissue. HPV genotyping was performed by quantitative PCR assay identifying 15 HPV genotypes. The study included 224 patients. The majority were males (141/174 in AoRRPs and 31/50 in JoRRPs; p = 0.005). The median follow-up from initial diagnosis was 12.0 years (IQR 3.7-32.9) for JoRRPs and 4.0 years (IQR 0.8-11.7) for AoRRPs. The disease was more aggressive in juveniles than adults (p<0.001), a difference that disappeared after 10 years' observation. JoRRPs with aggressive disease were younger at onset (mean difference 4.6 years, 95%CI [2.4, 6.8], p = 0.009). HPV6 or -11 was present in all HPV-positive papillomas. HPV11 was more prevalent in aggressive disease, and HPV6 in non-aggressive disease (p<0.001). Multiple logistic regression revealed that only age at onset (OR = 0.69, 95% CI [0.53, 0.88], p = 0.003) was associated with aggressive disease in juveniles, while HPV11 (OR = 3.74, 95% CI [1.40, 9.97], p = 0.008) and observation time >10 years (OR = 13.41, 95% CI [5.46, 32.99[, p<001) were risk factors in adults. In conclusion, the only significant risk factor for developing aggressive disease in JoRRPs was age at onset, but both HPV11 and observation time >10 years were risk factors for an aggressive disease course in AoRRPs.

Recurrent respiratory papillomatosis: HPV genotypes and risk of high-grade laryngeal neoplasia.

Patients with recurrent respiratory papillomatosis (RRP) in Norway treated between 1987 and 2009 were recruited to this cohort study. They were followed from disease onset and data recorded until January 2012. Here, we describe the distribution of human papillomavirus (HPV) genotypes, the prevalence of multiple HPV infections, and the risk of high-grade laryngeal neoplasia and respiratory tract invasive carcinoma in a large cohort of patients with RRP. We also examined whether HPV genotype, gender, age or clinical course are risk factors for this development. Clinical records and histological specimens were reviewed. Using formalin-fixed paraffin-embedded biopsies, HPV genotyping were performed by quantitative polymerase chain reaction assays identifying 15 HPV types. HPV-negative specimens were analyzed by metagenomic sequencing. Paraffin blocks were available in 224/238 patients. The DNA quality was approved in 221/224 cases. HPV DNA was detected in 207/221 patients and all were HPV 6 or HPV 11 positive, comprising HPV 6 in 133/207, HPV 11 in 40/207 cases and HPV 6/11 in 15/207 cases. Co-infection with one or two high-risk HPV types together with HPV 6 or HPV 11 was present in 19/207 patients. Metagenomic sequencing of 14 HPV-negative specimens revealed HPV 8 in one case. In total, 39/221 patients developed high-grade laryngeal neoplasia. 8/221 patients developed carcinoma of the respiratory tract (six patients with laryngeal carcinoma and two patients with lung carcinoma). High-grade laryngeal neoplasias were found more frequently in HPV-negative versus HPV-positive patients, (RR = 2.35, 95% CI 1.1, 4.99), as well as respiratory tract carcinomas (RR = 48, 95% CI 10.72, 214.91). In summary, the majority of RRP were associated with HPV 6 and/or 11. HPV-negative RRP biopsies occurred more frequently in adult-onset patients, and were associated with an increased risk of laryngeal neoplasia and carcinoma in the respiratory tract.

Obstructive sleep apnea in younger school children with Down syndrome.

OBJECTIVE: We aimed to assess the prevalence of obstructive sleep apnea (OSA) in 8 year old school children with Down syndrome (DS). While the prevalence in otherwise healthy children is below 5%, the prevalence estimates in children with DS are uncertain (30-80%). OSA directly affects cognitive development and school performance. STUDY DESIGN: Population based cross sectional study in a limited geographical area. METHODS: Polysomnography (PSG) with video and audio recordings was performed in 8-year-old children with DS in a pediatric sleep unit according to the guidelines of American Academy of Sleep Medicine. Twenty-nine of all 32 children with DS within a restricted area comprising >50% of the Norwegian population and 54% of the children with DS born in Norway in 2002 were enrolled. RESULTS: This study reports an apnea hypopnea index AHI>1.5 in 28 of 29 children and an obstructive apnea index (OAI)>1 in 24 of 29 children. 19 children (66%) had an AHI>5 and 17 children (59%) had an OAI>5 which indicated moderate to severe OSA. No correlation was found between OSA and obesity or gender. CONCLUSION: The high prevalence of disease found in these previously undiagnosed 8-year-old children underlines the importance of performing OSA diagnostics in children with DS throughout childhood. These findings suggest that the prevalence of OSA remains high up to early school years. In contrast to earlier publications, this current study has the advantage of being population based, the study is performed on children of a narrow age band to estimate prevalence of disease and the diagnostic gold standard of PSG is applied.

Associations between speech features and phenotypic severity in Treacher Collins syndrome.

BACKGROUND: Treacher Collins syndrome (TCS, OMIM 154500) is a rare congenital disorder of craniofacial development. Characteristic hypoplastic malformations of the ears, zygomatic arch, mandible and pharynx have been described in detail. However, reports on the impact of these malformations on speech are few. Exploring speech features and investigating if speech function is related to phenotypic severity are essential for optimizing follow-up and treatment. METHODS: Articulation, nasal resonance, voice and intelligibility were examined in 19 individuals (5-74 years, median 34 years) divided into three groups comprising children 5-10 years (n = 4), adolescents 11-18 years (n = 4) and adults 29 years and older (n = 11). A speech composite score (0-6) was calculated to reflect the variability of speech deviations. TCS severity scores of phenotypic expression and total scores of Nordic Orofacial Test-Screening (NOT-S) measuring orofacial dysfunction were used in analyses of correlation with speech characteristics (speech composite scores). RESULTS: Children and adolescents presented with significantly higher speech composite scores (median 4, range 1-6) than adults (median 1, range 0-5). Nearly all children and adolescents (6/8) displayed speech deviations of articulation, nasal resonance and voice, while only three adults were identified with multiple speech aberrations. The variability of speech dysfunction in TCS was exhibited by individual combinations of speech deviations in 13/19 participants. The speech composite scores correlated with TCS severity scores and NOT-S total scores. Speech composite scores higher than 4 were associated with cleft palate. The percent of intelligible words in connected speech was significantly lower in children and adolescents (median 77%, range 31-99) than in adults (98%, range 93-100). Intelligibility of speech among the children was markedly inconsistent and clearly affecting the understandability. CONCLUSIONS: Multiple speech deviations were identified in children, adolescents and a subgroup of adults with TCS. Only children displayed markedly reduced intelligibility. Speech was significantly correlated with phenotypic severity of TCS and orofacial dysfunction. Follow-up and treatment of speech should still be focused on young patients, but some adults with TCS seem to require continuing speech and language pathology services.

Bilateral hypodontia is more common than unilateral hypodontia in children with Down syndrome: a prospective population-based study.

BACKGROUND: In individuals with simple hypodontia, congenital absence of teeth commonly affects just one tooth of a pair, not both. However, patterns of hypodontia have not been fully explored in children with Down syndrome (DS). OBJECTIVE: We describe the frequency and left-right symmetry of hypodontia in the permanent dentition of 8- to 9-year-old Norwegian children with DS. MATERIALS AND METHODS: This population-based cross-sectional study was part of a national prospective study evaluating upper airway function, hearing, dental, and craniofacial characteristics in a cohort of children with DS born in 2002. The cohort consisted of 29 children with DS and represented 57 per cent of all children born with DS in Norway in 2002. Hypodontia was assessed using panoramic and/or dental radiographs. Data were collected prospectively at TAKO-Centre, National Resource Centre for Oral Health in Rare Medical Conditions, Lovisenberg Diakonale Hospital, Oslo, Norway. RESULTS: Hypodontia of permanent teeth, excluding third molars, was found in 61.5 per cent of the 26 children included in the final sample. Among the 16 children with hypodontia, 75.0 per cent were missing two or more permanent teeth. Two children (7.7 per cent) had severe hypodontia (oligodontia). The teeth most often missing were the maxillary lateral incisors, followed by the mandibular second premolars and maxillary second premolars. Most (68.9 per cent) cases of hypodontia occurred bilaterally. CONCLUSIONS: The majority of the children with DS were missing one or more permanent teeth. Unlike in the general population, bilateral hypodontia was more common than unilateral hypodontia in this sample of children with DS.

High cardiovascular risk profile in patients with sleep apnea.

OBJECTIVES/HYPOTHESIS: Sleep apnea is associated with hypertension and diabetes, putting these patients at high risk for developing cardiovascular disease. The goal of this study was to identify the individual cardiovascular risk profile and to detect premature and undiagnosed disease in patients with various degrees of sleep apnea. STUDY DESIGN: Cross-sectional. METHODS: Over a 6-month period, we consecutively characterized all patients referred to our sleep laboratory for an initial evaluation of sleep apnea. Clinical history; blood tests with oral glucose tolerance test, when appropriate; test for microalbuminuria; and an electrocardiogram (ECG) were performed. The Framingham general cardiovascular risk score was assessed in each patient. RESULTS: A total of 255 patients were evaluated. Of those, 190 (75%) were diagnosed with sleep apnea. Patients with sleep apnea had a significantly higher Framingham risk score than patients without sleep apnea. Adjusted for age and gender, severe sleep apnea was associated with a 60% increased cardiovascular risk compared with not having sleep apnea. In sleep apnea patients without previously diagnosed hypertension, an additional 45% had significant elevated blood pressure. Among sleep apnea patients without known diabetes, we tested 48% with a pathological glucose disposal. Twenty percent of sleep apnea patients without known heart disease had significant ECG changes. CONCLUSIONS: High Framingham score, undiagnosed hypertension, and pathological glucose disposal were highly prevalent in patients with sleep apnea. Appropriate screening routines are important to detect cardiovascular risk factors in patients with sleep apnea.

Otitis media with effusion in children with in Down syndrome.

OBJECTIVE: To determine the prevalence of otitis media with effusion (OME) in children with Down syndrome (DS), and the associated to hearing loss at the age of 8 years. STUDY DESIGN: A national population based clinical study of all children with DS born in Norway in 2002. RESULTS: OME was found in 20 out of 52 (38%) children. Those with OME had a significant lower hearing level with a mean pure tone average (PTA) of 33.4 dB HL compared to children with no OME whose mean PTA was 21.7 dB HL (p < 0.0001). Verified hearing loss above 25 dB HL in the better hearing ear was found in 12 out of the 20 with OME, compared to 5 out 31 without OME. CONCLUSION: The findings of this present study uncover the increased risk of OME in eight year old children with DS as current otitis media was found in one of three. This reduced hearing ability in children with DS due to OME at age of 8 strongly emphasizes the need for optimal treatment and follow up to optimize hearing rehabilitation. The findings are further supported by the population based study design, the focus on the narrow age band and the high response rate.

Hearing level in children with Down syndrome at the age of eight.

This study examines the prevalence of hearing loss in children with Down syndrome at the age of 8. All children were examined in the ENT-departments of public hospitals in Norway and the study population consisted of children born in Norway in 2002 with Down syndrome. Hearing loss was defined as pure-tone air-conduction reduction by on average more than 25 dB HL in the best hearing ear. A cross sectional clinical and audiological population based study was chosen as study design. Hearing loss more than 25 dB HL in the best hearing ear was found in 17/49 children (35%). Mild hearing loss was found in 13 children (26%), moderate in 3 (6%) children and severe hearing loss in 1 child (2%). Conductive hearing loss was found in 8 children (16%), 9 children (18%) had a sensory-neural hearing loss, and mixed hearing loss was found in 3 children. Mean hearing level among boys and girls were 30.0 dB HL (SD 15.7) and 25.5 dB HL (SD13.7) respectively, a non-significant difference (p=0.139). In conclusion this study indicates that both conductive and sensorineural hearing loss, is still common in children with Down syndrome children at the age of eight and as much as two thirds of the children may have a bilateral impairment. The study population was under diagnosed in terms of hearing loss and thus our findings underline the importance of continuous audiological follow up of this group of children throughout childhood.

Association between obstructive sleep apnea and health-related quality of life in individuals affected with Treacher Collins syndrome.

Although the relationship between Quality of Life (QoL) and obstructive sleep apnea (OSA) has been reported in several studies, little is known about this relationship among individuals affected with Treacher Collins syndrome (TCS). The aim of this study was to examine the associations between obstructive sleep and QoL in TCS patients. Thirty-six individuals with TCS (8-75 years) were invited to participate in expanded medical examinations, including a sleep study, polysomnography, as well as to respond to questionnaires about health related Health-related quality of life (HRQoL). Twenty-three (64 %) responded to the invitation, but four were later excluded due to additional diagnoses or unconfirmed TCS, and four were below 12 years and excluded due to different scoring rules for sleep and respiratory disturbances in young children and adults. The remaining group comprised 15 adults and adolescents with TCS, 5 male (33 %) and 10 female (66 %). The participants were between 12 and 75 years of age (mean 38.6, SD 18.5). Obstructive sleep was found in 87 % of the patients and several sleep apnea parameters, among these wake time after sleep, subjective snoring and mean saturation, were associated with poorer HRQoL. OSA appears to account for reduced HRQoL in adolescents and adults with TCS.

Orofacial functions and oral health associated with Treacher Collins syndrome.

OBJECTIVE: The aim of this study was to describe orofacial features and functions and oral health associated with Treacher Collins syndrome (TCS) in relation to the variable phenotypic expression of the condition. MATERIALS AND METHODS: The Nordic Orofacial Test-Screening (NOT-S), MHC Questionnaire, MHC Observation chart and clinical examinations of nasal and pharyngeal conditions and chewing and swallowing function were used to assess 19 individuals aged 5-74 years (median 34 years). TCS severity scores were calculated by a clinical geneticist. RESULTS: Orofacial features characterizing the study group were altered profile, increased mandibular angle, narrow hypopharynx and facial asymmetry. Basic orofacial functions such as breathing, eating, facial expression and speech were affected in all subjects demonstrating orofacial dysfunction in at least two NOT-S domains (median NOT-S total score 4/12, range 2-7). Significant correlation was found between the TCS severity scores reflecting phenotypic expression and the NOT-S total scores reflecting orofacial function. Self-reported experience of dry oral mucosa was common. Overall, dental health was good with few carious lesions diagnosed, but considerable need for orthodontic treatment was documented. CONCLUSIONS: Altered orofacial features and functions in TCS are common and often persist into late adolescence and adulthood. The functional level was correlated with the phenotypic variability of the condition. The standard of oral health was satisfactory. The findings indicated that individuals with TCS are likely to require lifelong health services related to their oral condition.

Salivary gland pathology as a new finding in Treacher Collins syndrome.

In our clinical experience, individuals with Treacher Collins syndrome (TCS) present with more complaints of oral dryness and higher caries activity than seen in the general population. A literature review identified no reports of salivary gland pathology and glandular dysfunction associated with TCS. Twenty-one Norwegian individuals with TCS underwent ultrasound examinations and salivary secretion tests of the submandibular and parotid glands. Intraglandular architecture patterns were analyzed and subsequently classified as either normal, dysplastic, or aplastic. The results were compared with salivary secretion rates and subjective reports of oral dryness. Ultrasound examination revealed pathological appearance of the salivary glands in approximately half (48%) of the individuals, with dysplasia identified in six (29%) participants and aplasia in four (19%). Almost all participants had co-existing low salivary secretion rates. A few individuals had low salivary secretion rates despite normal appearance of the salivary gland tissue on ultrasound examination. Subjective experience of oral dryness did not correlate significantly with low salivary secretion rates. We conclude that mild to severe salivary gland pathology and dysfunction can be associated with TCS. Further investigation is needed to clarify this association.