Primary ciliary dyskinesia in Volendam: Diagnostic and phenotypic features in patients with a CCDC114 mutation.

Primary ciliary dyskinesia (PCD) is a heterogeneous disease, with impaired mucociliary clearance causing respiratory tract infections. A founding CCDC114 mutation has led to a relatively homogeneous and large Dutch PCD population in Volendam. Our aim was to describe their phenotype. Therefore, all Volendam PCD patients seen at the Amsterdam UMC were included in this study. Data were collected on lung function, microbiology, radiology, and ear-nose-throat (ENT) symptoms. A mixed effects model estimated lung function decline in %point per year (95% confidence interval [CI]). Thirty-three (60%) out of approximately 56 Volendam PCD patients were treated at our center and included in this study. Only 30% of patients had situs inversus. FEV1 declined in children (-1.43%/year, CI: -1.80/-1.05), but not in adults (0.01%/year, CI: -0.36/0.38). Pseudomonas aeruginosa was cultured in 21% of children and 60% of adults, respectively. Patients who have been infected at some point with P. aeruginosa had a steeper decline in FEV1 as compared to patients that have never been infected. Neonatal symptoms (79%) and ENT problems (94%) were common; fertility issues however, were not (11%) common. Compared to other PCD cohorts, the Volendam/CCDC114 patients have a moderately severe phenotype with lung function decline predominantly occurring in childhood.

Tongue Lip Adhesion in the Treatment of Robin Sequence: Respiratory, Feeding, and Surgical Outcomes.

OBJECTIVE: Objective evaluation of the efficacy of tongue lip adhesion (TLA) in the management of Robin sequence (RS). STUDY DESIGN: Retrospective cohort study. SETTING: Tertiary referral hospital. PATIENTS, PARTICIPANTS: The craniofacial database of Amsterdam UMC, Vrije Universiteit Amsterdam was searched to identify infants with RS who underwent tong lip adhesion (TLA). Forty-one RS infants who underwent TLA from 1993 to 2016 were identified. INTERVENTIONS: TLA. MAIN OUTCOME MEASURE: The outcome measures were pre- and postoperative polysomnography results, nutritional status, weight gain, age at operation, hospital stay length, extubation time after TLA, and complications. RESULTS: Forty-one RS patients were included who had TLA at an average age of 26.6 days. In 16 cases a pre- and postoperative polysomnography was performed. In 13 of these cases (81.3%) improvement was observed, in 2 (12.5%) the results were inconclusive, and in 1 (6.3%) no improvement was seen. Patients were extubated after a mean of 2.2 days.The mean hospital stay was 40.2 days. Reintervention was needed in 7 patients because of a wound dehiscence. The mean age of TLA release was 9.7 months. At discharge, 9 (22%) children still needed total nutritional support for persistent feeding difficulties. The average growth from birth to adhesion release was 4.6 kg. CONCLUSION: This cohort demonstrates that TLA is a successful procedure in children with RS in terms of respiratory, feeding, and growth outcome. Only minor complications were seen in our cohort.

Prospective evaluation of voice outcome during the first two years in male patients treated by radiotherapy or laser surgery for T1a glottic carcinoma.

In this prospective cohort study, we assessed voice outcome in patients before and up to 2 years after treatment for early glottic cancer either by radiotherapy or by laser surgery; 106 male patients, treated for T1aN0M0 glottic cancer either by endoscopic laser surgery (n = 67) or by radiotherapy (n = 39), participated in the study. Patients' voices were recorded and analysed pre-treatment and 3, 6, 12 and 24 months post-treatment at their routine visit at the outpatient clinic. Average fundamental frequency (F0), percent jitter, percent shimmer and normalized noise energy (NNE) were determined. After 2 years, local control rate was 95% in the radiotherapy group and 97% in the laser surgery group. Larynx preservation rate was 95% after radiotherapy and 100% after laser surgery. Voice outcome recovers more quickly in patients treated with laser surgery in comparison to radiotherapy: 3 months after laser surgery there is no longer a difference with regard to normal voices except for the fundamental frequency, which remains higher pitched, even in the longer term. For patients treated with radiotherapy it takes longer for jitter, shimmer and NNE to become normal, where jitter remains significantly different from normal voices even after 2 years. According to these results, we believe that laser surgery is the first treatment of choice in the treatment of selected cases of T1a glottic carcinomas with good functional and oncological results.

A screening questionnaire for voice problems after treatment of early glottic cancer.

PURPOSE: After treatment for early glottic cancer, a considerable number of patients end up with voice problems interfering with daily life activities. A 5-item screening questionnaire was designed for detection of voice impairment. The purpose of this study is to assess psychometric properties of this questionnaire in clinical practice. METHODS AND MATERIALS: The questionnaire was completed by 110 controls without voice complaints and 177 patients after radiotherapy or laser surgery for early glottic cancer. RESULTS: Based on normative data of the controls, a score of 5 or less on at least 1 of the 5 questions was considered to state overall voice impairment. Reliability of the questionnaire proved to be good. Voice impairment was reported in 44% of the patients treated with radiotherapy vs. 29% of the patients treated with endoscopic laser surgery. CONCLUSIONS: The questionnaire proved to be a reliable, valid, and feasible method to detect voice impairment in daily life. The questionnaire is easy to fill in, and interpretation is straightforward. It is useful for both radiation oncologists and otorhinolaryngologists in their follow-up of patients treated for early glottic cancer.

Long-term efficacy of voice therapy in patients with voice problems after treatment of early glottic cancer.

OBJECTIVE: The purpose of the present pilot study is to investigate whether the beneficial short-term effects of voice therapy in patients with voice problems after treatment of early glottic cancer as reported in our earlier study remain present on the long term. STUDY DESIGN: In this prospective study, 12 patients, selected based on a screening questionnaire about voice problems and randomly assigned for treatment with voice therapy (vs no treatment), were evaluated with a mean of 13 months after finishing voice therapy to evaluate the long-term voice effects. METHODS: Voice assessment consisted of the Voice Handicap Index (VHI) and acoustic analyses (percent jitter, percent shimmer, and noise-to-harmonics ratio). RESULTS: Statistical analysis showed that the beneficial short-term effect on the mean VHI, percent jitter, and shimmer remained stable after more than a year of follow-up. CONCLUSIONS: The present study provides initial evidence that the beneficial effect of voice therapy is not just a short-lived voice improvement but may result in a better voice for a period of at least 1 year. Future long-term randomized controlled trials are needed to confirm our findings.

The efficacy of voice therapy in patients after treatment for early glottic carcinoma.

BACKGROUND: After treatment for early glottic carcinoma, a considerable number of patients end up with voice problems that interfere with daily life activities. The objective of this randomized and controlled study was to assess the efficacy of voice therapy in these patients. METHODS: Of 177 patients, 6-120 months after treatment for early glottic carcinoma, 70 patients (40%) suffered from voice impairment based on a 5-item screening questionnaire. Approximately 60% of those 70 patients were not interested in participating in the current study. Twenty-three patients who were willing to participate were assigned randomly either to a voice therapy group (n = 12 patients) or to a control group (n = 11 patients). Multidimensional voice analyses (the self-reported Voice Handicap Index [VHI], acoustic and perceptual voice quality analysis, videolaryngostroboscopy, and the Voice Range Profile) were conducted twice: before and after voice therapy or with 3 months in between for the control group. RESULTS: Statistical analyses of the difference in scores (postmeasurement minus premeasurement) showed significant voice improvement after voice therapy on the total VHI score, percent jitter, and noise-to-harmonics ratio in the voice signal and on the perceptual rating of vocal fry. CONCLUSIONS: Voice therapy proved to be effective in patients who had voice problems after treatment for early glottic carcinoma. Improvement not only was noticed by the patients (VHI) but also was confirmed by objective voice parameters.

Health status and voice outcome after treatment for T1a glottic carcinoma.

Radiotherapy as well as endoscopic laser surgery as the most widely used treatment modalities for T1a glottic carcinoma cause minor morbidity and negligible mortality and result in more or less comparable, excellent cure and larynx preservation rates. Therefore, other outcome measures such as voice-related problems and health status are important factors in the choice of treatment for T1a glottic cancer. The present study focuses on voice-related problems in the daily life of patients treated by radiotherapy or endoscopic laser surgery for T1a glottic cancer. Self ratings on health status assessed by means of COOP/WONCA health status charts and voice problems evaluated with a validated voice-specific questionnaire (the Voice Handicap Index) and overall judgment on voice quality were obtained. A total of 102 patients (56 treated by endoscopic laser surgery and 46 treated by radiotherapy) with at least 1-year follow-up were included. Response scores were high: 52 (93%) patients after endoscopic laser surgery versus 40 (87%) patients after radiation therapy completed and returned the questionnaires. A high percentage of patients reported voice problems in daily life: 58% of the patients following radiotherapy and 40% of the patients following endoscopic treatment had abnormal VHI scores. The difference between both treatment modalities proved to be significant. No significant differences were found concerning health status or overall judgment of voice quality. Moderate correlations were found between total VHI score and voice quality judgment and the COOP/WONCA social activities chart. This study reveals that treatment for T1a glottic cancer often does result in voice problems in daily life, negatively influencing patients social activities. Patients selected for endoscopic laser surgery on average report fewer voice-related problems than those who underwent radiotherapy.