Purpose: To better understand the side effects of fixed lingual retainers by means of an in vitro study in a two-tooth model determining the three-dimensional (3D) force–moment components acting at adjacent teeth combined with different composite–wire interfaces. Methods: Triple-stranded round retainer wires were embedded in cured disks of flowable composite. At one side the composite–wire interface was untreated and checked to be absolutely fix. At the other side the composite–wire interface was configured as either an isolated compound with (1) petroleum jelly coating, or an adhered compound with (2) no manipulation, (3) ethanol degreasing or (4) ethanol degreasing and rectangular bending of the wire ends. The 3D force–moment components were registered, while the intertooth distance was increased in steps of 0.01 mm leading to increasing tension of the wire. Measurements were repeated after artificially aging the specimens. Results: Retainer wire specimens with adhered compound (2, 3, 4) showed negative vestibulo-oral moments ranging maximally each between −0.3 and −0.9 Nmm in opposite direction to positive moments of 1.9 Nmm for specimens with isolated compound 1. Significant tipping moments occurred in the group with isolated compound at lower forces than in those groups with adhered compound. Similar effects were observed after artificial aging. Conclusion: Side effects emerge under specific circumstances: an altered adhesive compound combined with the presence of oral forces. Compounds with lost adhesion at the composite–wire interface showed rotational moments in the direction of the wire windings even during low tensile forces similar to those that may occur in clinical settings. Opposite rotational moments leading to unwinding of the wire may occur in cases with adhered compounds at higher tensile forces. Utilization of round triple-stranded retainer wires without bent ends are of higher risk to induce inadvertent side effects.

Objective: To compare the incidence of right-sided versus left-sided, and unilateral versus bilateral, nonsyndromic clefting in the affected offspring of smoking and nonsmoking mothers. Design: Self-report data on periconceptual and first trimester smoking behavior were collected from 842 mothers of children with nonsyndromic orofacial clefting. Differences in the incidence of left- versus right-sided clefts, and of unilateral versus bilateral clefts, were analyzed between the children of smoking and nonsmoking mothers. Setting: Interviews and clinical examinations took place at 8 specialist centers in Germany. Patients and Participants: Children with nonsyndromic clefts were recruited during the course of surgical or orthodontic treatment, or within the context of the annual control consultation. Patients with cleft palate only or missing data were excluded. The final cohort comprised 842 patients (540 males and 302 females) with unilateral or bilateral clefts. The respective mothers were interviewed. Main Outcome Measure: Side and laterality of nonsyndromic clefts were the main outcome measures. Results: Children of smoking mothers more often had right-sided clefts than children of nonsmoking mothers (42% right-sided clefts in children of smoking mothers vs 31% of nonsmoking mothers). Children of smoking mothers more often had bilateral clefts than children of nonsmoking mothers (35% bilateral clefts in children of smoking mothers vs 29% of nonsmoking mothers). Sex-specific analyses confirmed substantially and statistically significant associations only for girls. Conclusions: The results suggest that maternal smoking is a sex-specific, exogenous determinant of laterality and side in nonsyndromic clefts.

Objective: Micrognathia in connection with glossoptosis (called Robin sequence) may lead to life-threatening respiratory problems immediately after birth. An objective detection during prenatal routine ultrasound sonography is possible using an index that relates fetal lower jaw length to femur length or gestational age. The aim of this study was to test the method’s sensitivity and specificity and to discuss its predictive power concerning neonatal respiratory insufficiency. Design: Patients with subjectively identified suspicious signs in the sagittal profile view were included in the study: Two-dimensional serial ultrasound scans of their fetal mandible were used to measure the lower jaw lengths and compare them to predicted values according to an index, derived from 313 healthy fetuses. Follow-up data provided additional information on the clinical appearance of the newborns. Results: The index showed a high sensitivity: 15 of the 16 cases with a micrognathia were correctly diagnosed (sensitivity of 93.75%). Follow-up data showed that newborns with similar index values differed in terms of their upper airway obstruction and treatment need. Conclusion: Fetal mandibular micrognathia can be objectively evaluated with the help of the index. The method allows an early detection of micrognathia, which helps to take the necessary steps for proper treatment of potential life-threatening respiratory impairment. Observations ranging outside the prediction interval could prompt the ultrasonographer to check for other associated malformations.

Spinal muscular atrophy is a monogenic disease characterized by progressive spinal and bulbar muscle weakness and atrophy. It is caused by the degeneration of alpha-motoneurons. The recent approval of the antisense oligonucleotide nusinersen highlights the need for reliable clinical tools to evaluate motor function in patients with neuromuscular disorders. Measurement of the bulbar neuromuscular function (e.g., bite force) could be an extension to existing motor scales, sensitive to more nuanced changes, especially in symptomatic patients with severely reduced functional abilities. Maximum bite force measurement was used to quantify changes of the masticatory function in adult monozygotic female twins with SMA type II. Using piezoelectric transducers, 550 observations were recorded for each patient during the first year of nusinersen therapy. During the application of four loading doses of nusinersen, bite force levels steadily increased and reached a statistically significantly higher level compared to the initial state in both patients. Subsequent maintenance doses coincided with smaller or no statistically significant changes in maximum bite force. This pilot study indicates that the measurement of maximum bite force may be a useful tool to detect changes of the bulbar function in SMA patients. As such, it may supplement existing scales to identify treatment-related changes in motor function.

Background: Impairment of bulbar function in adult individuals with spinal muscular atrophy (SMA) usually is not assessed by established motor scores. Measurements of oral function including quantitative muscle and endurance tests are able to detect subtle changes. The aim of this study was to systematically evaluate the measurement of maximum bite force and endurance, maximum tongue pressure and endurance, as well as maximum mouth opening in adult individuals with SMA types 2 and 3. Methods: Data from oral function tests in 43 individuals were analyzed. Differences in oral function between individuals with different SMA types and numbers of SMN2 copies were tested. Spearman´s rho correlations among oral function measures themselves as well as with established clinical outcome scales were analyzed. Results: The absolute maximum measures of oral function (maximum bite force, maximum tongue pressure, maximum mouth opening) were able to discriminate between individuals with different SMA types, individuals with a different number of SMN2 copies and with different walking abilities. The pairwise correlations of the absolute maximum measures of oral function were fair to moderate in size; the same was true for their correlations with the established motor scores. All correlations assessing endurance measures of oral function were weaker and statistically insignificant. Conclusions: Among the oral function tests maximum tongue pressure and maximum mouth opening are particulary promising as clinical and sensitive outcome measures for clinical trials. Oral function tests may supplement existing motor scores, in particular concerning specific questions about bulbar function or in severely affected non-ambulatory individuals where mild (treatment-related) changes would otherwise remain undetected. Trial registration DRKS, DRKS00015842. Registered 30 July 2019, https://drks.de/search/de/trial/DRKS00015842

Introduction/Aims: Persons with spinal muscular atrophy (pwSMA) report progressive muscle weakness but also reduced endurance when performing repetitive tasks in daily life, referred to as “performance fatigability” (PF). Data regarding the effects of the new disease‐modifying drugs on PF are scarce. Thus, our main objective was to examine PF in adult ambulatory pwSMA treated long‐term with nusinersen.Methods: Six‐minute walk test (6MWT) data from 14 adult pwSMA treated with nusinersen for up to 70 months were retrospectively analyzed to determine PF. Performance fatigability was defined as the percentage change in the distance covered between the last and first minute of the 6MWT. In addition, relationships between PF and other clinical features were assessed.Results: Performance fatigability was found in 12/14 pwSMA (85.7%) prior to treatment. The mean distance walked in the sixth minute (71.1 m) was shorter than the distance covered in the first minute (81.8 m), corresponding to a mean PF of 13.1% (95% confidence interval (CI): 6.5–19.6, p = .0007). During treatment with nusinersen, there was a mean reduction in PF of 5.6% (95% CI: −10.0 to −1.3, p = .0148). We found no relationship between PF and fatigue as measured by the Fatigue Severity Scale.Discussion: This study demonstrates the presence of PF as an independent component of motor impairment and as a potential therapeutic target in our cohort of adult ambulatory pwSMA. Furthermore, the observations in our cohort suggest that nusinersen may have a beneficial effect on PF.