Hypernasality Research Articles

Measurement of Nasal Mucociliary Clearance by Saccharin Test

The nasal mucosa lines the entry of the respiratory tract and is in constant contact with a great variety of inhaled microbial antigens and allergens. Mucociliary clearance is defined as cleaning of upper and lower airway by interaction of nasal mucus and ciliary beating. Inhaled particles, bacteria and virus are trapped in the mucus and are transported by the beat of the cilia to the pharynx where they are either swallowed or coughed up. The main purpose of this study is to examine the capabilities of the saccharin test and its application in determination of the modified mucociliary clearance time (MTC) by obstructive nasal breathing, caused by different local pathology. The essence of the test is that a small amount of saccharin is placed approximately 1 cm behind the anterior end of the inferior turbinate. In the presence of normal mucociliary action, the saccharin will be swept backwards to the nasopharynx and a sweet taste perceived. 15 healthy volunteers and 15 patients with obstructive nasal breathing were tested with the saccharin test. Most of the similar studies indicate different clearance times as normal, averaging between 5 and 19 minutes (max. 36 minutes). Results, out of the norm, were registered in cases with present nasal breathing disorder. Our research does not show considerable difference in this respect. Regardless of whether normal or pathological mucociliary clearance is concerned, the saccharin test appears to be simple, inexpensive and reproducible examination, appropriate for quick and reliable valuation of mucociliary function or dysfunction.

Oxygen Mask Related Nasal Integument and Osteocartilagenous Disorders in F-16 Fighter Pilots

BackgroundA preliminary survey showed half of the participating Royal Netherlands Air Force (RNLAF) F-16 fighter pilots to have nasal integument and osteocartilagenous disorders related to wearing in-flight oxygen masks.AimTo make an inventory of these disorders and possible associated factors.MethodsAll RNLAF F-16 pilots were requested to fill out a semi-structured questionnaire for a cross-sectional survey. Additionally, one squadron in The Netherlands and pilots in operational theater were asked to participate in a prospective study that required filling out a pain score after each flight. Pilot- and flight-related variables on all participants were collected from the RNLAF database. A linear mixed model was built to identify associated factors with the post-flight pain score.ResultsThe response rate to the survey was 83%. Ninety of the 108 participants (88%, 6 missing) reported tenderness, irritation, pain, erythema, skin lesions, callous skin, or swelling of nasal bridge integument or architecture. Seventy-two participants (71%, 6 missing) reported their symptoms to be troublesome after a mean of 6±3 out of 10 flights (0;10, 54 missing). Sixty-six pilots participated in scoring post-flight pain. Pain scores were significantly higher if a participant had ≥3 nasal disorders, after longer than average flights, after flying abroad, and after flying with night vision goggles (respectively +2.7 points, p = 0.003; +0.2 points, p = 0.027; +1.8 points, p = 0.001; +1.2 points p = 0.005). Longer than average NVG flights and more than average NVG hours per annum decreased painscores (respectively −0.8 points, p = 0.017; −0.04 points, p = 0.005).ConclusionsThe majority of the RNLAF F-16 fighter pilot community has nasal disorders in the contact area of the oxygen mask, including pain. Six pilot- or flight-related characteristics influence the experienced level of pain.

持続的鼻腔内陽圧負荷装置を用いた鼻咽腔閉鎖機能賦活法(CPAP療法)のnasalanceによる評価

持続的鼻腔内陽圧負荷装置を用いた鼻咽腔閉鎖機能賦活法(CPAP療法)のnasalanceによる評価

Nasal Saline Irrigations for the Symptoms of Acute and Chronic Rhinosinusitis

The use of saline nasal irrigation (SNI) in the treatment of nasal and sinus disorders has its roots in the yoga tradition and homeopathic medicine. In recent years, SNI has been increasingly observed as concomitant therapy for acute (ARS) and chronic rhinosinusitis (CRS). Various devices are employed, such as nasal douches, neti pots or sprays. The saline solutions used vary in composition and concentration. This article gives a current overview of literature on the clinical efficacy of SNI in the treatment of ARS and CRS. It then answers frequent questions that arise in daily clinical routine (nasal spray vs. nasal irrigation, saline solution composition and concentration, possible risks for patients). SNI has been an established option in CRS treatment for many years. All large medical associations and the authors of systematic reviews consistently conclude that SNI is a useful addition for treating CRS symptoms. SNI use in ARS therapy, however, is controversial. The results of systematic reviews and medical associations' recommendations show the existing but limited efficacy of SNI in ARS. For clinical practice, nasal douches are recommended-whatever the form of rhinosinusitis-along with isotonic and hypertonic saline solutions in CRS (in ARS to a limited extent). To prevent infections, it is essential to clean the nasal douche thoroughly and use the proper salt concentration (2-3.5%). Conclusive proof of the efficacy of SNI in the treatment of ARS is still pending. In CRS, SNI is one of the cornerstones of treatment.

Olfactory changes after endoscopic sinus surgery in patients with chronic rhinosinusitis

To address the controversy over whether olfactory function is improved or not after endoscopic sinus surgery (ESS) in patients with eosinophilic (ECRS) and non-eosinophilic chronic rhinosinusitis (non-ECRS). Between June 2006 and March 2012, 89 adult patients with CRS underwent ESS at Hyogo College of Medicine. There were 55 men and 34 women with a mean age of 53 years old, ranging from 23 to 79 years. The average follow-up period was 10.7 months (3-24) after ESS. Peripheral blood examination, sinonasal CT imaging, and four kinds of olfaction tests [self-administered olfaction test (SAOQ), visual analog scale (VAS), T&T recognition threshold tests (T&T) and intravenous olfaction test using prosultiamine] were performed. We diagnosed ECRS when (i) symptoms of nasal congestion and olfactory disorder, (ii) bilateral chronic rhinosinusitis with nasal polyps (CRSwNPs), (iii) peripheral blood eosinophilia (>7.0%), and (iv) ethmoid sinus dominant opacification in preoperative CT findings (i.e. ethmoid sinuses (E) were more bilaterally occupied than those of maxillary sinuses (M), E/M≥1), were completely fulfilled. We divided the patients into two groups of ECRS (group A) and non-ECRS (group B). Olfaction tests before operation, and at the 3rd, 6th, 12th, and 24th month postoperation were analyzed. The severity and therapeutic evaluation of olfaction were based on criteria of T&T recognition thresholds. The mean SAOQ and VAS scores showed significant improvement within 6 months after ESS in both group A and group B. In total, the improvement rates were 52.0% (26/50) at 3 months, 58.5% (24/41) at 6 months, 40.5% (15/37) at 12 months, and 41.2% (7/17) at 24 months. The significant improvement of T&T recognition thresholds in group B was maintained for 24 months, whereas those in group A, showing transient improvement, deteriorated after 12 months or more. A significant difference in postoperative T&T recognition between groups A and B was found at the 12th postoperative month. In both A and B, 84% of patients had a response to prosultiamine (positive group) in the preoperative stage. T&T thresholds in the positive group were significantly better that those in the negative groups in the postoperative stage. Olfactory disorders due to ECRS showed transient improvement that deteriorated as time passed after surgery. The olfaction in the non-ECRS patients recovered comparatively well. Postoperative olfactory results were unfavorable in patients without a preoperative reaction to prosultiamine.

Assessment of hypernasality for children with cleft palate based on cepstrum analysis

Hypernasality is a frequently occurring resonance disorder in children with cleft palate. In general, an operation is necessary to reduce the hypernasality and therefore an assessment of hypernasality is imperative to quantify the effect of the surgery and design the speech therapy sessions, which are crucial after surgery. In this paper, a new quantitative method is proposed to estimate hypernasality. The proposed method used the fact that an autoregressive (AR) model for vocal tract system of a patient with hypernasal speech is not accurate; because of the zeros appear in the frequency response of the vocal tract system. Therefore in our method, hypernasality was estimated by a quantity calculated from comparing the distance between the sequences of cepstrum coefficients extracted from AR model and autoregressive moving average model. K-means and Bayes theorem were utilized to classify the utterances of subjects by means of proposed index. We achieved the accuracy up to 81.12% on utterances and 97.14% on subjects. Since the proposed method needs only computer processing of speech data, compared with other clinical methods it provides a simple evaluation of hypernasality.

Kshara application for turbinate hypertrophy

Nasapratinaha (nasal obstruction) is a commonly encountered disease in clinical practice. It is one of the nasal disorders, explained in Ayurveda, having nasal obstruction leading to difficulty in breathing as the main cardinal feature. In contemporary science, this condition can be correlated with various diseases such as turbinate hypertrophy, deviated nasal septum, nasal mass, mucosal congestion, allergic rhinitis, and others; among which turbinate hypertrophy is a common cause. Turbinate hypertrophy can be treated with surgical and medical methods. The medical treatment has limitation for prolonged use because of health purpose, surgical approaches too have failed to achieve desired results in turbinate hypertrophy due to complications and high recurrence rate. The medical and surgical managements have their own limitations, merits, and demerits like synechiae formation, rhinitis sicca, severe bleeding, or osteonecrosis of the turbinate bone A parasurgical treatment explained in Ayurveda, known as kshara pratisarana, which is a minimal invasive and precise procedure for this ailment, tried to overcome this problem. ‘Kshara Karma’ is a popular treatment modality in Ayurveda, which has been advocated in disorders of nose like arbuda (tumor) and adhimamsa (muscular growth). Clinical observation has shown its effectiveness in the management of turbinate hypertrophy. A case report of 45-year-old male who presented with complaints of frequent nasal obstruction, nasal discharge, discomfort in nose, and headache; and diagnosed as turbinate hypertrophy has been presented here. The patient was treated with one application of Kshara over the turbinates. The treatment was effective and no recurrence was noticed in the follow up.

Speech characteristics in a Ugandan child with a rare paramedian craniofacial cleft: A case report

The purpose of this study is to describe the speech characteristics in an English-speaking Ugandan boy of 4.5 years who has a rare paramedian craniofacial cleft (unilateral lip, alveolar, palatal, nasal and maxillary cleft, and associated hypertelorism). Closure of the lip together with the closure of the hard and soft palate (one-stage palatal closure) was performed at the age of 5 months. Objective as well as subjective speech assessment techniques were used. The speech samples were perceptually judged for articulation, intelligibility and nasality. The Nasometer was used for the objective measurement of the nasalance values. The most striking communication problems in this child with the rare craniofacial cleft are an incomplete phonetic inventory, a severely impaired speech intelligibility with the presence of very severe hypernasality, mild nasal emission, phonetic disorders (omission of several consonants, decreased intraoral pressure in explosives, insufficient frication of fricatives and the use of a middorsum palatal stop) and phonological disorders (deletion of initial and final consonants and consonant clusters). The increased objective nasalance values are in agreement with the presence of the audible nasality disorders. The results revealed that several phonetic and phonological articulation disorders together with a decreased speech intelligibility and resonance disorders are present in the child with a rare craniofacial cleft. To what extent a secondary surgery for velopharyngeal insufficiency, combined with speech therapy, will improve speech intelligibility, articulation and resonance characteristics is a subject for further research. The results of such analyses may ultimately serve as a starting point for specific surgical and logopedic treatment that addresses the specific needs of children with rare facial clefts.

Acute isolated velopharyngeal insufficiency in children: case report and systematic review of the literature

Acute isolated velopharyngeal insufficiency (VPI) is a clinical entity mainly reported in children. We undertook a systematic review in order to better characterize its features. Following a Medline search (1960-2012), the authors reviewed and analyzed the cases of acute VPI in children; 36 cases were found. The most common presenting features were hypernasal speech (97 %), nasal reflux (73 %), and dysphagia (49 %). 73 % of the children were males and 27 % females, of 8.9 ± 2.5 years. In all the cases the VPI was unilateral. One quarter of the children had a recent episode of febrile illness and 11 % of the children had an identified infection at the time of presentation (HAV, parvovirus B19, measles, and Coxsackie virus). No associated cause was found in the other cases. All cases resolved completely (67 %) or partially (33 %) without any treatment (89 %) or with prednisolone (11 %). Acute VPI represents a separate entity within the spectrum of VPI and it is a benign self-limiting disorder. The cause remains undetermined but an infectious disorder may play a role at least in some cases. Follow-up is mandatory in order to eliminate progressive conditions such as brainstem neoplasms or inflammatory diseases.

Nasal cytology in children: recent advances

Nasal cytology is a very useful diagnostic tool in nasal disorders, being able to detect both the cellular modifications of the nasal epithelium caused by either allergen exposure or irritative stimuli (that may be physical or chemical, acute or chronic), or inflammation. Over these past few years, nasal cytology has allowed to identify new disorders, such as the non-allergic rhinitis with eosinophils (NARES), the non-allergic rhinitis with mast cells (NARMA), the non-allergic rhinitis with neutrophils (NARNE), and the non-allergic rhinitis with eosinophils and mast cells (NARESMA). The rhinocytogram is actually able to distinguish the different forms of allergic rhinitis and to suggest the appropriate treatment, such as antinflammatory drugs or allergen immunotherapy. The technique is easy to perform and nasal cytology is therefore particularly suitable even for children. Such a consideration suggests the utility of a systematic use of nasal cytology in the diagnostic work-up of nasal disorders in children, in order to reach a proper defined diagnosis and to set a rational therapeutic approach: in facts, these two elements are fundamental in order to prevent from complications and to improve the patient’s quality of life.

Surgical challenge: endoscopic repair of cerebrospinal fluid leak

BackgroundCerebrospinal fluid leaks (CSF) result from an abnormal communication between the subarachnoid space and the extracranial space. Approximately 90% of CSF leak at the anterior skull base manifests as rhinorrhea and can become life-threatening condition. Endoscopic sinus surgery (ESS) has become a common otolaryngologist procedure. The aim of this article is to consider our experience and to evaluate the outcomes in patients who underwent a purely endoscopic repair of CSF leaks of the anterior skull base.FindingsRetrospective chart review was performed of all patients surgically treated for CSF leaks presenting to the Section of Nasal and Sinus Disorders at the Service of ENT–Head and Neck Surgery, University Hospital Complex of Santiago de Compostela (CHUS), between 2004 and 2010. A total of 30 patients who underwent repair CSF leak by ESS. The success rate was 93.4% at the first attempt; only two patients (6.6%) required a second surgical procedure, and none of it was necessary to use a craniotomy for closure. Follow-up periods ranged from 4 months to 6 years.ConclusionIdentifying the size, site, and etiology of the CSF leak remains the most important factor in the surgical success. It is generally accepted that the ESS have made procedures minimally invasive, and CSF leak is now one of its well-established indications with low morbidity and high success rate, with one restriction for fistulas of the posterior wall of the frontal sinus should be repaired in conjunction with open techniques.

Strategies to Improve CPAP Adherence: Zhenjiang Experience

Objective: High dropout rate of CPAP is a big challenge. To improve the CPAP adherence, systemic upper airway management including subjective and objective nasal patency assessment, surgical and medical treatment to upper airway obstruction, and CPAP follow-up strategies were carried on in the present study. Method: A prospective study. A total of 169 OSA patients (women: 34; mean age, 42.9 years) and 41 healthy subjects (women: 9; mean age, 38 years) were undertaken for polysomnography and subjective and objective nasal patency assessment. CPAP users with upper airway disorder were treated with medication or surgically and followed for up to 3 years. Results: Average bilateral nasal cavity volume (2-5 cm from nostril) was 4.97 mL in OSA subjects and 6.43 in healthy subjects ( P < .01), and average nasal respiratory resistance was 2.03 Pa·cm-3·s-1 in OSA subjects and 0.44 in healthy subjects ( P < .01). There was no significant nasal patency difference among mild, moderate, and severe OSA patients. In 59 CPAP users, 27 were treated with nasal steroid spray and/or decongestant, whereas 10 were treated surgically (8 septoplasty and 2 tonsillectomy + UPPP). A total of 38 patients (64%) kept using CPAP over 4 hours per day, 9 (15%) dropped out, and 12 (21%) were lost in the 3 years follow-up. Conclusion: The incidence of nasal patency disorder was higher in OSA patients. Nasal airway assessment was helpful to foresee and deal with the problems with CPAP treatment, which would encourage patients to adhere to the treatment with medical or surgical interferences.

Prosthodontic Rehabilitation of Velopharyngeal Disorders—A Case Series

Acquired palatal defects results from cancer resection, whereas cleft palate is the main cause of congenital defects. Both these condition leads to impaired speech intelligibility, seepage of nasal secretions into the oral cavity and vice versa while difficulty in swallowing and hyper nasality is also eminent. In this case report three different technique for treating velopharyngeal disorders have been described.

Fabricating a Hollow Obturator with Light-Cured Resin System

Tumor resection of a cancer lesion produces maxillary defects that can be easily restored with an obturator to close the defect area. Postsurgical maxillary defects predispose a patient to hypernasal speech, fluid leakage into the nasal cavity, and impaired masticatory function. Therefore, the primary aims of prosthetic rehabilitation in total and partial maxillectomy patients include: separation of oral and nasal cavities to allow adequate deglutition and articulation, possible support of orbital contents and support of soft tissue to restore mid-facial contours. A method of fabricating a simple hollow obturator for maxillectomy patients is described. The use of a relatively long-lasting light cure resin materials in making obturators allows stable, comfortable, and effective obturation. The hollow prosthesis is lightweight and sufficiently flexible to allow relatively simple placement in retentive undercut regions.

Comparison between perceptual assessments of nasality and nasalance scores

There are different reports of the usefulness of the Nasometer™ as a complement to listening, often as correlation calculations between listening and nasalance measurements. Differences between findings have been attributed to listener experience and types of speech stimuli. To compare nasalance scores from the Nasometer with perceptual assessments, for the same and different Swedish speech stimuli, using three groups of listeners with differing levels of experience in judging speech nasality. To compare nasalance scores and blinded listener ratings of randomized recordings using three groups of listeners and two groups of speakers. Speakers were either classified as having hypernasal speech or speech with typical speech resonance. Listeners were speech-language pathologists (SLPs) working predominantly with resonance disorders, other SLPs and untrained listeners. Correlations (r(s)) between hypernasality ratings and nasalance scores for each listener group and speech stimuli were calculated. For both groups of SLPs all correlations between perceptual ratings and nasalance scores were significant at p= 0.01. The correlations between the nasalance scores and ratings by listeners in the SLP groups were higher than those for the untrained listener group regardless of stimulus type. Post-hoc Mann-Whitney U-tests showed that the only difference that was significant was expert SLP group versus untrained listener group. Secondly, correlations between perceptual ratings and oral stimulus nasalance scores were higher when the perceptual ratings were based on spontaneous speech rather than on the oral stimulus. However, a Wilcoxon signed rank test showed that the difference was not significant. A third finding was that correlations between oral stimulus nasalance scores and perceptual scores were higher than those between mixed stimulus nasalance scores and perceptual scores. A Wilcoxon signed rank test showed that the difference was significant. The Nasometer might be useful for the SLP with limited experience in assessing resonance disorders in differentiating between hyper- and hyponasality. With listener reliability for ratings of hypernasality still being an issue, the use of a nasalance score as a complement to the perceptual evaluation will also aid the expert SLP. It will give an alternative way of quantifying speech resonance and might help in especially hard to judge cases.

معرفي كاربرد فشار هوای مثبت مداوم (CPAP) در درمان پرخيشومي: ارایه گزارش مورد

مقدمه: دکتر David Kuehn در سال 1991 از فشار هوای مثبت مداوم (Continuous positive air pressure یا CPAP) برای درمان بیماران با پرخیشومی خفیف و گپ کمتر از mm 2 استفاده کرد. هدف از این مطالعه موردی ارایه نتایج درمان CPAP بر روی یک بیمار فارسی زبان با پرخیشومی خفیف بود. مواد و روش‌ها: بیمار یک نوجوان 12 ساله بود. شکایت عمده خانواده از گفتار نامفهوم و پرخیشومی او بود که بعد از جراحی لوزه سوم بدتر شده بود. بیمار 2 ماه گفتاردرمانی مستقیم را بدون هیچ گونه نتیجه‌ای دریافت کرده بود. بعد از معاینه توسط آسیب‌شناس گفتار و زبان، انجام آندوسکوپی ضروری تشخیص داده شد. مشاهده آندوسکوپی بیمار نشان داد که گپ موجود در دریچه کامی- حلقی (Velopharyngeal یا VP) کمتر از mm 2 می‌باشد و حرکت نرمکام و دیواره‌های طرفی حلق به نسبت خوب و بر اساس ارزیابی ادراکی گفتار پرخیشومی خفیف بود. با توجه به مشخصه‌های گفتاری و آناتومیکی، درمان با استفاده از CPAP بهترین روش درمانی تشخیص داده شد. بیمار 8 هفته درمان CPAP را مطابق با برنامه تعیین شده دریافت کرد. یافته‌ها: در آندوسکوپی بعد از درمان هیچ گونه گپی مشاهده نشد و گفتار پرخیشومی و نامفهوم بیمار به طور کامل درمان شده بود. نتیجه گیری: اگر یادگیری نامناسب یک علت اصلی در گفتار پرخیشومی تصور شود، این فرضیه کاملا معقول است که بازخورد اطلاعات به فرد بیمار تأثیر به سزایی در درمان مشکل وی خواهد داشت. CPAP نیروی محرک قوی را برای تنظیم فشار هوا در مسیر صوتی ایجاد می‌کند. این نیرو یک تعامل مستقیم با فشار مثبت تولید شده به وسیله مکانسیم تنفسی در طی گفتار دارد. یافته‌های پژوهشی نشان داده است که درمان CPAP به بهتر بسته شدن دریچه VP در گفتار پیوسته کمک می‌کند که این عمل به دلیل تقویت عضلات دریچه VP اتفاق می‌افتد. کلید واژه‌ها: فشار هوای مثبت مداوم، پرخيشومي، گزارش مورد

Free Segmental Vastus Lateralis Muscle Flap for Reconstruction of Recalcitrant Defects of the Cleft Hard Palate

Large recalcitrant defects of the anterior palate due to clefting are difficult to close with local tissues. In some cases distant tissue transfer may be the only option. Free segmental vastus lateralis muscle with its long high-caliber pedicle and low donor-site morbidity may be a good option. An 8-year-old girl with bilateral cleft lip and palate was evaluated for a defect in the anterior hard palate. She had four failed palate closures resulting in a 3.2 × 2.8 cm defect with severely scarred surrounding palatal tissues and severely hypernasal speech. A vastus lateralis muscle with a 7-cm pedicle was prepared. Only a 5 × 4 × 1 cm segment of muscle was harvested based on segmental motor innervations, thus sparing 90% of the remaining muscle. Vessels were anastomosed to the facial artery and vein through a facial tunnel. The flap was directed into the palatal defect via the right alveolar cleft and sutured in a fashion to prevent dehiscence and fistulization. The surface of the flap mucosalized over an 8-week period. The defect was completely closed. The speech markedly improved. There was no donor-site morbidity. Free segmental vastus lateralis muscle offers easy harvest, a two-team approach, long pedicle length, a highly vascularized flap, and no functional loss.

Prosthetic Rehabilitation of Velopharyngeal Insufficiency: A case of Pharyngeal Obturator with palatal lift prosthesis

Palatal defect of any extent causes multiple problems in speech, mastication and esthetics. Cancer resection is the most common cause of acquired palatal defects. Palatal defect can be repaired by reconstructive surgery and/or a dental prosthesis. A soft palate defect may result from surgical resection, and its consequences could include hypernasal speech and nasal regurgitation of food and liquids. A speech aid prosthesis fabricated for patients can improve nasal emission during speech, and assist in preventing nasal regurgitation of food. This article presents a case of the reconstruction of a soft palate defect by prosthetic obturation.

Reliability and validity testing for the Child Oral Health Impact Profile‐Reduced (COHIP‐SF 19)

This study assessed the reliability and validity of the Child Oral Health Impact Profile-Short Form 19 (COHIP-SF 19) from the validated 34-item COHIP. Participants included 205 pediatric, 107 orthodontic, and 863 patients with craniofacial anomalies (CFAs). Item level evaluations included examining content overlap, distributional properties, and use of the response set. Confirmatory factor analysis identified potential items for deletion. Scale reliability was assessed with Cronbach's alpha. Discriminant validity of the COHIP-SF 19 was evaluated as follows: among pediatric participants, scores were compared with varying amounts of decayed and filled surfaces (DFS) and presence of caries on permanent teeth; for orthodontic patients, scores were correlated with anterior tooth spacing/crowding; and for those with CFA, scores were compared with clinicians' ratings of extent of defect (EOD) for nose and lip and/or speech hypernasality. Convergent validity was assessed by examining the partial Spearman correlation between the COHIP scores and a standard Global Health self-rating. Comparisons between the COHIP and the COHIP-SF 19 were completed across samples. The reduced questionnaire consists of 19 items: Oral Health (five items), Functional Well-Being (four items), and a combined subscale named Socio-Emotional Well-Being (10 items). Internal reliability is ≥ 0.82 for the three samples. Results demonstrate that the COHIP-SF 19 discriminates within and across treatment groups by EOD and within a community-based pediatric sample. The measure is associated with the Global Health rating (P < 0.05), thereby indicating convergent validity. Reliability and validity testing demonstrate that the COHIP-SF 19 is a psychometrically sound instrument to measure oral health-related quality of life across school-aged pediatric populations.

The emerging phenotype of long-term survivors with infantile Pompe disease

Enzyme replacement therapy with alglucosidase alfa for infantile Pompe disease has improved survival creating new management challenges. We describe an emerging phenotype in a retrospective review of long-term survivors. Inclusion criteria included ventilator-free status and age ≤6 months at treatment initiation, and survival to age ≥5 years. Clinical outcome measures included invasive ventilator-free survival and parameters for cardiac, pulmonary, musculoskeletal, gross motor, and ambulatory status; growth; speech, hearing, and swallowing; and gastrointestinal and nutritional status. Eleven of 17 patients met study criteria. All were cross-reactive immunologic material-positive, alive, and invasive ventilator-free at most recent assessment, with a median age of 8.0 years (range: 5.4-12.0 years). All had marked improvements in cardiac parameters. Commonly present were gross motor weakness, motor speech deficits, sensorineural and/or conductive hearing loss, osteopenia, gastroesophageal reflux, and dysphagia with aspiration risk. Seven of 11 patients were independently ambulatory and four required the use of assistive ambulatory devices. All long-term survivors had low or undetectable anti-alglucosidase alfa antibody titers. Long-term survivors exhibited sustained improvements in cardiac parameters and gross motor function. Residual muscle weakness, hearing loss, risk for arrhythmias, hypernasal speech, dysphagia with risk for aspiration, and osteopenia were commonly observed findings.