Scarring of the vocal folds leads to a deterioration of the highly complex micro-structure with consecutively impaired vibratory pattern and glottic insufficiency. The resulting dysphonia is predominantly characterized by a reduced vocal capacity. Despite the considerable progress in understanding of the underlying pathophysiology, the treatment of scarred vocal folds is still an unresolved chapter in laryngology and phonosurgery. Essential for a successful treatment is an individual, multi-dimensional concept that comprises the whole armamentarium of surgical and non-surgical (i.p. voice therapy) modalities. An ideal approach would be to soften the scar, because the reduced pliability and consequently the increased vibratory rigidity impede the easiness of vibration. The chosen phonosurgical method is determined by the main clinical feature: Medialization techniques for the treatment of glottic gap, or epithelium freeing techniques for improvement of vibration characteristics often combined with injection augmentation or implantation. In severe cases, buccal mucosa grafting can be an option. New developments, include treatment with anxiolytic lasers, laser technology with ultrafine excision/ablation properties avoiding coagulation (Picosecond infrared laser, PIRL), or techniques of tissue engineering. However, despite the promising results by in vitro experiments, animal studies and first clinical trials, the step into clinical routine application has yet to be taken.

Purpose of ReviewSubstantial research exists focusing on the various aspects and domains of early human development. However, there is a clear blind spot in early postnatal development when dealing with neurodevelopmental disorders, especially those that manifest themselves clinically only in late infancy or even in childhood.Recent FindingsThis early developmental period may represent an important timeframe to study these disorders but has historically received far less research attention. We believe that only a comprehensive interdisciplinary approach will enable us to detect and delineate specific parameters for specific neurodevelopmental disorders at a very early age to improve early detection/diagnosis, enable prospective studies and eventually facilitate randomised trials of early intervention.SummaryIn this article, we propose a dynamic framework for characterising neurofunctional biomarkers associated with specific disorders in the development of infants and children. We have named this automated detection ‘Fingerprint Model’, suggesting one possible approach to accurately and early identify neurodevelopmental disorders.

ABBREVIATIONSPSV Preserved speech variant RTT Rett syndrome AIM Our aim was to contribute new findings related to the pre-regressional verbal development of females with a variant of Rett syndrome (RTT) as the loss of spoken language is one of the key clinical features of RTT, and it would be of particular interest to study the early speech-language development of females who are considered to have preserved some speech-language abilities.METHOD We analysed 461 minutes of audio-video recordings containing play situations and the daily routines of six females (aged 7 to 24 months; mean birthweight 3057g, SD 195g) with the preserved speech variant (PSV) of RTT. All videos were recorded by parents and analysed retrospectively after the diagnosis PSV was made.RESULTS From the age of 7 months onwards, we observed two types of vocalizations, appearing intermittently: (1) apparently normal sequences; and (2) atypical (i.e. inhalatory, pressed, or high-pitched crying-like) vocalizations. Some participants failed to reach the milestone of canonical babbling. We observed a limited phonological and lexical complexity and a restricted compositional variability. Volubility was reduced during the whole period under observation. Hand stereotypies with simultaneous atypical vocalizations appeared only during the second year of life. INTERPRETATIONThe intermittent character of normal versus abnormal verbal behaviours might contribute to an early identification of children with a possible genetic mutation, and provides evidence that speech-language functions are abnormal from the very beginning.Rett syndrome (RTT, MIM 312750), a profoundly disabling neurodevelopmental disorder that predominantly occurs in females, is mainly caused by mutations in the gene MECP2 for the methyl-CpG-binding protein 2 (Xq28).1 It is assumed that MeCP2, a regulator of neuronal activity-dependent synaptic maturation, plays a central role in postnatal brain development. Disruption of MeCP2 affects a wide range of neurodevelopmental functions such as cognitive processes, purposeful hand use, and communicative abilities.2 The pathogenesis of RTT is characterized by a four-stage trajectory, the second of which is the regression period, in which the clinical signs become more prominent.1 The trajectory can be observed in females with classic RTT as well as in other variants of RTT, of which the so-called preserved speech variant (PSV) or Zappella variant (Z-RTT) has a more benign overall pathogenesis, including better manual and speech-language abilities. 1,3,4 Females with PSV have the same staging and a number of the same symptoms as in classic RTT (e.g. the characteristic hand stereotypies) but usually show no general growth failure or deceleration of head growth; epilepsy and hyperventilation are rare.3-5 Furthermore, individuals with PSV show a postregressional improvement in hand use; language abilities may be regained or preserved. Lexicon size and syntactic complexity are reported to increase slowly, but are usually accompanied by features such as e...

Genotyping is an economic, quick and convenient method for diagnosing lactose malabsorption, with results comparable to existing tests. Sufficient calcium consumption may be relevant to body growth, as milk-drinkers were taller. Negative calcium bone balance may be prevented when provision is made for adequate calcium intake.

Introduction: Dysphonia is considered a major symptom of unilateral vocal fold paralysis (UVFP). Besides this, many patients complain of further symptoms such as dysphagia and dyspnea, which might not be expected to such an extent. The aim of this survey was to elucidate these symptoms in a cohort of patients with UVFP. Subjects and Methods: Sixty-three patients (22 men, 41 women) suffering from UVFP were interviewed. Therefore we developed a questionnaire dealing with each of the three symptom categories: voice production, swallowing and breathing. Results: All of the surveyed patients reported voice impairment, almost 60% complained of swallowing problems after the onset of paralysis. Seventy-five percent reported a subjectively impaired breathing sensation, not just phonatory dyspnea but during everyday physical activity as well. Discussion: Our study revealed a certain discrepancy between objectively assessed laryngoscopic findings and subjective symptoms. A majority of patients suffered from an impairment in each of the three laryngeal functions (dysphonia, dysphagia and dyspnea). The latter two differ from the classic approach to this condition but must be considered as well in clinical diagnostics and therapy.

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Exciting advances have been made in stem cell biology in recent years, including use of induced pluripotent stem cells. We expect such advances to be translated into the field in the forthcoming years. Laryngoscope, 126:1865-1870, 2016.

Both decreased calcium intake as well as lactose-associated impaired calcium absorption may predispose subjects with HL to osteoporosis. Lactose-free calcium supplementation may help to maintain BMD in HL subjects.