Intrafamilial "DOA-plus" phenotype variability related to different OMI/HTRA2 expression.

Dominant Optic Atrophy and Deafness (DOAD) may be associated with one or more of the following disorders such as myopathy, progressive external ophthalmoplegia, peripheral neuropathy, and cerebellar atrophy ("DOA-plus"). Intra- and interfamilial variability of the "DOA-plus" phenotype is frequently observed in the majority of the patients carrying the same mutation in the OPA1 gene. We are describing two familial cases of "DOA-plus" carrying the same c.1334G>A (p.Arg445His) mutation in OPA1 and disclosing different clinical, pathological and biochemical features. The two patients showed different expression levels of the mitochondrial OMI/HTRA2 molecule, which acts as a mitochondrial stress sensor and has been described to interplay with OPA1 in in vitro studies. Our data offer the cue to inquire the role of OMI/HTRA2 as a modifier gene in determining the "DOAplus" phenotype variability.

Evaluation of the Electroglottographic Signal Variability in Organic and Functional Dysphonia.

OBJECTIVES: To confirm the data reported in our previous studies on the analysis of the variability of the electroglottographic signal in the pathological voice; to evaluate possible differences in variability between organic and functional pathologies; to identify any distinctive/typical EGG patterns for these pathologies. METHODS: One hundred twenty-five subjects were enrolled (36 euphonic and 89 pathological: 24 functional dysphonia, 21 bilateral vocal nodules, 23 unilateral polyps and 21 unilateral cysts). All subjects were studied with videolaryngostroboscopy, spectrographic analysis of voice and electroglottography (EGG). The EGG signal variability was then investigated using amplitude-speed combined analysis, by means of a proprietary software algorithm. Amplitude and Speed variation were expressed as a new parameter, the Variability Index (VI), calculated both for the whole EGG signal recorded (VI-tot) and in each phase of the glottic cycle (VI-Q, absolute value; VI-Q%, percentage value). RESULTS: In the comparison of VI values between pathological and normal groups, VI-tot and VI-Q2% (which corresponds to the final phase of vocal fold contact) were significantly greater in pathological subjects (P= 0.002). The comparison of VI values among subgroups of the various pathologies showed a difference for VI-tot (P< 0.0001) and VI-Q2% (P= 0.001); this difference was more marked in the cysts than in the functional dysphonia. The cut-off values of VI-tot and VI-Q2% were 0.191 and 18.17%, respectively (sensitivity and specificity 65.2% and 66.7% for VI-tot and 84.3% and 77.8% for VI-Q2%). CONCLUSIONS: The variability of the EGG signal investigated through the combined analysis of the amplitude and the speed of vibration using a proprietary algorithm software has proved useful not only to distinguish the normal voice from the pathological voice, but also to characterize which phases are more altered in the various voice pathologies studied, both functional and organic. Furthermore, the analysis of the VI parameter allowed to propose cut-off values characterized by a good sensitivity and specificity to discriminate dysphonia from the euphonic voice. Larger groups of patients will be needed to confirm these results.

Normative and validation data of an articulation test for Italian-speaking children.

OBJECTIVES: As a standardized instrument to assess speech sound development in Italian-speaking children is currently lacking, norms used to diagnose speech sound disorders (SSD) are mainly based on studies including English-speaking participants. This application may result in misidentification of SSD due to linguistic differences. The aims of the study were to establish normative data on speech sound development of Italian-speaking children and to evaluate psychometric properties of Rossi's articulation test, the picture-naming test selected to assess speech sound development. METHODS: A cross-sectional study including 694 normally-developing Italian-speaking children aged from 3 to 7 years was conducted. Children were administered Rossi's articulation test, and percentages of speech sound correct production were calculated. To evaluate inter-rater reliability of the test, audio-recordings of 50 children were scored by an additional examiner. The same rater scored the audio-recordings of 50 children twice with an interval of at least 1 week. To evaluate test-retest reliability, 144 participants were re-tested after 1-3 weeks by the same assessor. Scores were compared through Intraclass Correlation Coefficient (ICC). To assess construct validity, the developmental progression of total scores across age groups was verified by the estimation of the reference range for the test, using a regression procedure. RESULTS: Almost all Italian children in the sample produced vowels and approximants correctly. Singleton consonants were acquired before consonant clusters. Ages of acquisition of each consonant were presented: plosives and nasals were early mastered by Italian children, while dental affricates, alveolar fricatives and the palatal lateral were the latest acquired segments. All ICCs were superior to 0.9 (reliability). A statistically significant improvement in test score with age was found (construct validity). CONCLUSIONS: The paper provides normative data for speech sound development of Italian-speaking children; preliminary psychometric analysis of Rossi's articulation test revealed satisfactory reliability and construct validity. Clinicians are recommended to use Rossi's articulation test to assess speech sound development in Italian children.

Surgery or Rehabilitation: A Randomized Clinical Trial Comparing the Treatment of Vocal Fold Polyps via Phonosurgery and Traditional Voice Therapy with "Voice Therapy Expulsion" Training.

OBJECTIVE: Phonomicrosurgery is generally considered to be the treatment of choice for removing vocal fold polyps. However, specific techniques of voice therapy may represent, in selected cases and under certain conditions, a noninvasive therapeutic option for the treatment of such laryngeal lesions. The aim of the present study is to longitudinally assess, in terms of clinical outcomes and quality of life, two groups of patients with cordal polyps, treated either with standard surgery plus standard voice therapy or with a specific training of voice therapy alone, which we have called "Voice Therapy Expulsion." STUDY DESIGN: This study is a randomized controlled trial. METHODS: A total of 150 patients with vocal fold polyps were randomly assigned to either standard surgery or "voice therapy expulsion" protocol. The trial was carried out at the Division of Phoniatrics and Audiology of the Second University of Naples and at the Division of Communication Disorders of Local Health Unit (3 Naples South) from January 2010 to December 2013. A thorough phoniatric evaluation, including laryngostroboscopy, acoustic voice analysis, global grade of dysphonia, instability, roughness, breathiness, asthenia, and strain scale, Voice Handicap Index, and Voice-Related Quality of Life, was performed by using standardized tools, at baseline, at the end of the treatment, and up to 1 year after treatment. RESULTS: We found no significant differences between the two experimental groups in terms of clinical outcomes and personal satisfaction. However, "Voice Therapy Expulsion" was associated with higher scores for quality of life at endpoint evaluation. CONCLUSIONS: Besides phonosurgery, this specific "Voice Therapy Expulsion" technique should be considered as a valid, noninvasive, and well-tolerated therapeutic option for the treatment of selected patients with vocal fold polyps.

Pediatric selective mutism therapy: a randomized controlled trial.

BACKGROUND: Selective mutism (SM) is a rare disease in children coded by DSM-5 as an anxiety disorder. Despite the disabling nature of the disease, there is still no specific treatment. AIM: The aims of this study were to verify the efficacy of six-month standard psychomotor treatment and the positive changes in lifestyle, in a population of children affected by SM. DESIGN: Randomized controlled trial registered in the European Clinical Trials Registry (EuDract 2015-001161-36). SETTING: University third level Centre (Child and Adolescent Neuropsychiatry Clinic). POPULATION: Study population was composed by 67 children in group A (psychomotricity treatment) (35 M, mean age 7.84±1.15) and 71 children in group B (behavioral and educational counseling) (37 M, mean age 7.75±1.36). METHODS: Psychomotor treatment was administered by trained child therapists in residential settings three times per week. Each child was treated for the whole period by the same therapist and all the therapists shared the same protocol. The standard psychomotor session length is of 45 minutes. At T0 and after 6 months (T1) of treatments, patients underwent a behavioral and SM severity assessment. To verify the effects of the psychomotor management, the Child Behavior Checklist questionnaire (CBCL) and Selective Mutism Questionnaire (SMQ) were administered to the parents. RESULTS: After 6 months of psychomotor treatment SM children showed a significant reduction among CBCL scores such as in social relations, anxious/depressed, social problems and total problems (P<0.001), Withdrawn (P=0.007) and Internalizing problems (P=0.020). Regarding SM severity according to SMQ assessment, children of group A showed a reduction of SM symptoms in all situations (school, P=0.003; family, P=0.018; and social, P=0.030 situations) and in SMQ total score (P<0.001). CONCLUSIONS: Our preliminary results suggest the positive effect of the psychomotor treatment in rehabilitative program for children affected by selective mutism, even if further studies are needed. CLINICAL REHABILITATION IMPACT: The present study identifies in psychomotricity a safe and efficacy therapy for pediatric selective mutism.

Is Menstrual Dysphonia Associated With Greater Disability and Lower Quality of Life?

OBJECTIVES: The aim of the present study had been to examine the relationships between menstrual dysphonia and measures of psychosocial distress, in a sample of female professional voice users. DESIGN AND METHODS: This is a prospective study of 52 consecutive professional voice users, aged 18-40 years, affected by transient dysphonia related to the menstrual cycle and recruited in the Division of Phoniatrics and Audiology of the Second University of Naples, from April 2011 to September 2014. The following evaluation protocol was used: videoendoscopy, the GIRBAS scale, the Voice Handicap Index, and the determination of sexual hormonal plasma levels both during the menstrual and the luteal phase of the cycle. Furthermore, we measured, in all patients, the levels of perceived disability and quality of life during and after the dysphonia episodes by means of the Manchester Short Assessment of Quality of Life and the Sheehan disability scale. RESULTS: Laryngoscopic evaluation revealed that only minor morphologic changes were present during the first days of the follicular phase, usually returning to normal morphology after the menstrual period was over. However, we found that dysphonia episodes of varying degree were present in most evaluated subjects; women with a moderate degree of dysphonia also had a lower quality of life and greater overall disability, during menses. CONCLUSIONS: Despite minimal morphologic signs of laryngeal pathology, menstrual dysphonia might represent a disease which is frequent among female professional voice users, which in turn is associated with a certain degree of disability and lower quality of life during premenstrual and menstrual phases.

Videofluoroscopy and oropharyngeal manometry for evaluation of swallowing in elderly patients.

Presbyphagia represents the physiological aging evolution of the swallowing function. It is related to the natural changes of the anatomical structures involved in the swallowing process. These age-related modifications can be asymptomatic in the early stages of life, but in the late stages, they could lead to dysphagia, aspiration pneumonia, dehydration, or malnutrition, reducing the quality of life. Videofluoromanometry (VFM) is the combined study of videofluoroscopy (VFS) and oropharyngeal manometry that allows simultaneous identification of functional and morphological features of the presbyphagia, also in asymptomatic otherwise healthy elderly adults. This study retrospectively evaluated the effectiveness of the VFM and the role of a multidisciplinary team of specialists in the analysis of a large cohort of old patients with presbyphagia, with the objective of achieving early diagnosis of the disease and the best therapy to delay the development of complications such as aspiration pneumonia, malnutrition, and dehydration.

Speech-language evaluation and rehabilitation treatment in Floating-Harbor syndrome: a case study.

UNLABELLED: Floating-Harbor syndrome is a rare congenital disorder characterized by specific facial features, short stature associated with significantly delayed bone age and language impairment. Although language delay is a cardinal manifestation of this syndrome, few reports describe the specific language difficulties of these patients, particularly the development of language abilities in the long run. This paper reports on an Italian boy with Floating-Harbor syndrome and discusses his language evaluation at presentation (age 48 months) and development and progress of his language abilities after 4 years of rehabilitation treatment. At presentation he exhibited borderline mental retardation, with verbal abilities lower than performance abilities. He showed significant impairment of both expressive and receptive language, and also exhibited phonologic and articulations problems that lowered speech intelligibility. Neuropsychological assessment revealed cognitive problems. After speech-language rehabilitation treatment, he achieved significant improvement in language function. LEARNING OUTCOMES: The reader will learn about (1) the distinctive clinical characteristics and (2) the speech-language abilities and their development after speech-language therapy in Floating-Harbor syndrome.