Responsiveness of the cervical joint position error test to detect changes in neck proprioception following four weeks of home-based proprioceptive training.

INTRODUCTION: People with chronic neck pain (CNP) commonly exhibit a range of physical impairments including cervical proprioceptive deficits. Assessing proprioception using a head mounted laser to assess joint position error (JPE) is a reliable and valid measure. However, the responsiveness of this measure has not been assessed. OBJECTIVE: To assess the responsiveness of the measure of cervical JPE after a 4-week home-based neck proprioceptive training intervention in people with CNP. DESIGN: An observational study to assess the responsiveness of the measure of cervical JPE. METHODS: The JPE test was assessed in people with CNP before and after 4 weeks of neck proprioception training. JPE was assessed as participants performed neck joint position sense tests for flexion, extension, right rotation, and left rotation in sitting and standing which were performed in a random order. Both the absolute and constant JPE were assessed. The intervention consisted of neck repositioning exercises as well as movement sense exercises. Cohen's d effect size was used to assess the internal responsiveness of the JPE test. The Pearson's correlation was used to assess the change of scores of the laser pointer and measures from inertial measurement units (IMUs) (external responsiveness). RESULTS: After 4 weeks of proprioception training, JPE assessed in sitting reduced from 2.69◦-3.57◦ to 1.88◦-1.98◦ for flexion, extension, and right rotation with large effect sizes (Cohen's d range: 1.25-2.00). For left rotation, JPE reduced from 3.23◦ to 1.9◦, and the effect size was close to being large (Cohen's d: 0.79). When assessed in standing, JPE reduced from 3.49◦-4.52◦ to 1.5◦-2.33◦ with large effect sizes (Cohen's d range: 0.89-1.25) for flexion, extension, right rotation, and left rotation. Large effect sizes were not observed for the constant JPE when assessed in either sitting or standing. The assessment of the external responsiveness revealed weak correlations between the change of scores obtained from the laser pointer and the IMUs for all movements, apart from the constant JPE in sitting for left rotation, which showed a strong correlation (r = 0.7). CONCLUSION: The results of this study showed that the measure of the JPE has sufficient internal responsiveness, however, the external responsiveness was inadequate. Further research is advised.

Preliminary Study on Effects of Neck Exoskeleton Structural Design in Patients With Amyotrophic Lateral Sclerosis.

Neck muscle weakness due to amyotrophic lateral sclerosis (ALS) can result in dropped head syndrome, adversely impacting the quality of life of those affected. Static neck collars are currently prescribed to hold the head in a fixed upright position. However, these braces are uncomfortable and do not allow any voluntary head-neck movements. By contrast, powered neck exoskeletons have the potential to enable head-neck movements. Our group has recently improved the mechanical structure of a state-of-the-art neck exoskeleton through a weighted optimization. To evaluate the effect of the structural changes, we conducted an experiment in which patients with ALS were asked to perform head-neck tracking tasks while using the two versions of the neck exoskeleton. We found that the neck muscle activation was significantly reduced when assisted by the structurally enhanced design compared to no assistance provided. The improved structure also improved kinematics tracking performance, allowing users to better achieve the desired head poses. In comparison, the previous design did not help reduce the muscle effort required to perform these tasks and even slightly worsened the kinematic tracking performance. It was also found that biomechanical benefits gained from using the structurally improved design were consistent across participants with both mild and severe neck weakness. Furthermore, we observed that participants preferred to use the powered neck exoskeletons to voluntarily move their heads and make eye contact during a conversation task rather than remain in a fixed upright position. Each of these findings highlights the importance of the structural design of neck exoskeletons in achieving desired biomechanical benefits and suggests that neck exoskeletons can be a viable method to improve the daily life of patients with ALS.

Neck circumference and its association with anthropometric, clinical, and biochemical parameters in patients with chronic kidney disease on hemodialysis / Circunferência do pescoço e sua associação com parâmetros antropométricos, clínicos e bioquímicos em pacientes com doença renal crônica em hemodiálise

ABSTRACT Objective: To investigate the association between neck circumference and anthropometric, clinical, and biochemical parameters in chronic kidney failure patients on hemodialysis. Methods: This is a cross-sectional study with patients with chronic kidney disease undergoing hemodialysis in Western Bahia. For the data collection, anthropometric measures were taken and clinical and biochemical data were gathered from the patient records and employing a structured questionnaire. A multiple linear regression was applied to evaluate the relationship between neck circumference and the anthropometric, clinical, and biochemical parameters. Results: A total of 119 patients were evaluated, of which 63.03% were men and 57.98% were aged between 35 and 59 years old. The mean neck circumference of the patients was 36.2±3.8 cm. A negative association was found between neck circumference and the female sex (p<0.001), while waist circumference (p<0.001), the body adiposity index (p=0.002), and pre-dialysis serum urea concentration (p=0.006) were positively associated with neck circumference. Conclusion: Neck circumference is inversely associated with the female sex and positively associated with a high waist circumference, body adiposity index, and serum urea concentration in patients with chronic kidney disease on hemodialysis.

RESUMO Objetivo: Investigar a associação entre circunferência do pescoço e parâmetros antropométricos, clínicos e bioquímicos em pacientes renais crônico sem hemodiálise. Métodos: Trata-se de um estudo transversal com pacientes com doença renal crônica em hemodiálise no Oeste da Bahia. Para a coleta de dados foram aferidas medidas antropométricas e dados clínicos e bioquímicos foram coletados dos prontuários dos pacientes e por meio de um questionário estruturado. A análise de regressão linear múltipla foi aplicada para avaliar a relação entre a circunferência do pescoço e os parâmetros antropométricos, clínicos e bioquímicos. Resultados: Foram avaliados 119 pacientes, sendo 63,03% homens e 57,98% com idade entre 35 e 59 anos. A média da circunferência do pescoço dos pacientes foi de 36,2±3,8 cm. Foi encontrada associação negativa entre a circunferência do pescoço e sexo feminino (p<0,001), enquanto a circunferência da cintura (p<0,001), o índice de adiposidade corporal (p=0,002) e a concentração sérica de ureia pré-diálise (p=0,006) foram positivamente associados à circunferência do pescoço. Conclusão: A circunferência do pescoço está inversamente associada ao sexo feminino e positivamente associada a uma circunferência abdominal elevada, índice de adiposidade corporal e concentração sérica de ureia em pacientes com doença renal crônica em hemodiálise.

Clinical Evaluation of Neck in Patients with Proprioceptive Cervicogenic Dizziness.

OBJECTIVE: To establish a functional connection between neck physical evaluations, dizziness discomfort and image findings among subjects diagnosed with proprioceptive cervical dizziness. METHODS: After exclusion of peripheral vestibular disorders, 20 subjects with proprioceptive cervical dizziness hypothesis were selected. A Visual Analogue Scale (VAS) was used to quantify pain and vertigo. The active neck Range of Motion (ROM) and the Muscle Strength (MS) of the neck region were examined. The manipulation of vertebral bodies by the Maitland method and imaging scan were performed. RESULTS: A positive correlation between pain and vertigo VAS scores was found. The ROM of the cervical spine was limited and vertebral joint movement was restricted, especially at C3 and C5. No loss of MS was noticed. CONCLUSIONS: Proprioceptive cervical dizziness is usually an exclusion diagnosis among episodic chronic vertigos. Characteristically, it is reported by patients as instability or vertigo in crises. It is directly related to the neck ache severity and worsens with neck movements. The common pattern on clinical examination includes restriction and pain during neck flexion without loss of MS. Reduction of joint mobility and pain are also observed, especially at C3 and C54 kHz.

Demonstration of central conduction time and neuroplastic changes after cervical lordosis rehabilitation in asymptomatic subjects: a randomized, placebo-controlled trial.

A randomized controlled study was conducted to evaluate the effect of rehabilitation of the cervical sagittal configuration on sensorimotor integration and central conduction time in an asymptomatic population. Eighty (32 female) participants with radiographic cervical hypolordosis and anterior head translation posture were randomly assigned to either a control or an experimental group. The experimental group received the Denneroll cervical traction while the control group received a placebo treatment. Interventions were applied 3 × per week for 10 weeks. Outcome measures included radiographic measured anterior head translation distance, cervical lordosis (posterior bodies of C2-C7), central somatosensory conduction time (latency) (N13-N20), and amplitudes of potentials for spinal N13, brainstem P14, parietal N20 and P27, and frontal N30. Outcomes were obtained at: baseline, after 10 weeks of intervention, and at 3 months follow up. After 10 weeks and 3-months, between-group analyses revealed statistically significant differences between the groups for the following measured variables: lordosis C2-C7, anterior head translation, amplitudes of spinal N13, brainstem P14, parietal N20 and P27, frontal N30 potentials (P < 0.001), and conduction time N13-N20 (P = 0.004). Significant correlation between the sagittal alignment and measured variables were found (P < 0.005). These findings indicate restoration of cervical sagittal alignment has a direct influence on the central conduction time in an asymptomatic population.

Impact of Neck and Shoulder Pain on Health-Related Quality of Life in a Middle-Aged Community-Living Population.

PURPOSE: Neck and shoulder pain (NSP) is very common in the general population. However, scarce information exists on the relationship between NSP and health-related quality of life (HRQOL) outcomes in this population. The present study described NSP prevalence and its impact on the HRQOL of middle-aged and older persons undergoing a routine medical checkup. METHODS: This study recruited 318 subjects (125 males and 193 females; average age, 63.4 years) in good health, collected underwent anthropometric measurements, physical function examinations, and blood testing. This study defined NSP as the presence of muscle tension, stiffness, pressure, or dull pain in areas between the neck and the arch of the scapular. Study subjects were divided into two groups (NSP (+) and NSP (-) groups). The subjects completed questions on the Medical Outcomes Study 36-item short-form health survey (SF-36) and the EuroQol 5-dimension, 5-level version (EQ-5D-5L) tool. RESULTS: Of the patients, 150 and 168 were NSP (+) and NSP (-), respectively. The NSP complaint rate was 47.2%. The NSP (+) group had younger and more female participants than the NSP (-) group. In the multivariate regression analysis, the NSP (+) group had lower physical QOL based on the SF-36 physical component summary (odds ratio (OR), 2.45) and lower mental QOL based on the SF-36 mental component summary (OR, 2.05). Overall, the NSP (+) group had a higher risk of having low QOL scores (EQ-5D-5L index; OR, 1.76). CONCLUSIONS: The NSP (+) rate in healthy middle-aged and older persons was 47.2%. Furthermore, NSP (+) status was directly related poor HRQOL. NSP is a predictor of suboptimal physical and mental QOL. Therefore, NSP prevention or intervention for NSP may improve middle-aged and older adults' QOL.

Expert consensus on the important chronic non-specific neck pain motor control and segmental exercise and dosage variables: An international e-Delphi study.

BACKGROUND: Chronic non-specific neck pain is highly prevalent, resulting in significant disability. Despite exercise being a mainstay treatment, guidance on optimal exercise and dosage variables is lacking. Combining submaximal effort deep cervical muscles exercise (motor control) and superficial cervical muscles exercise (segmental) reduces chronic non-specific neck pain, but evaluation of optimal exercise and dosage variables is prevented by clinical heterogeneity. OBJECTIVE: To gain consensus on important motor control and segmental exercise and dosage variables for chronic non-specific neck pain. METHODS: An international 3-round e-Delphi study, was conducted with experts in neck pain management (academic and clinical). In round 1, exercise and dosage variables were obtained from expert opinion and clinical trial data, then analysed thematically (two independent researchers) to develop themes and statements. In rounds 2 and 3, participants rated their agreement with statements (1-5 Likert scale). Statement consensus was evaluated using progressively increased a priori criteria using descriptive statistics. RESULTS: Thirty-seven experts participated (10 countries). Twenty-nine responded to round 1 (79%), 26 round 2 (70%) and 24 round 3 (65%). Round 1 generated 79 statements outlining the interacting components of exercise prescription. Following rounds 2 and 3, consensus was achieved for 46 important components of exercise and dosage prescription across 5 themes (clinical reasoning, dosage variables, exercise variables, evaluation criteria and progression) and 2 subthemes (progression criteria and progression variables). Excellent agreement and qualitative data supports exercise prescription complexity and the need for individualised, acceptable, and feasible exercise. Only 37% of important exercise components were generated from clinical trial data. Agreement was highest (88%-96%) for 3 dosage variables: intensity of effort, frequency, and repetitions. CONCLUSION: Multiple exercise and dosage variables are important, resulting in complex and individualised exercise prescription not found in clinical trials. Future research should use these important variables to prescribe an evidence-informed approach to exercise.

Kinesiophobia and its correlations with pain, proprioception, and functional performance among individuals with chronic neck pain.

Chronic neck pain (CNP) incidence in the general population is high and contributes to a significant health problem. Kinesiophobia (fear of pain to movement or re-injury) combined with emotions and physical variables may play a vital role in assessing and managing individuals with CNP. The study's objectives are 1) to evaluate the relationship between kinesiophobia, neck pain intensity, proprioception, and functional performance; 2) to determine if kinesiophobia predicts pain intensity, proprioception, and functional performance among CNP individuals. Sixty-four participants with CNP (mean age 54.31 ± 9.41) were recruited for this cross-sectional study. The following outcome measures were evaluated: Kinesiophobia using the Tampa Scale of Kinesiophobia (TSK), neck pain intensity using the visual analog scale (VAS), cervical proprioceptive joint position errors (in flexion, extension, and rotation directions) using cervical range of motion (CROM) device and handgrip strength as a measure of functional performance using the Baseline® hydraulic hand dynamometer. Kinesiophobia showed a strong positive correlation with neck pain intensity (r = 0.81, p<0.001), a mild to a moderate positive correlation with proprioception joint position errors (JPE) in extension, rotation left and right directions (p<0.05), but no correlation in flexion direction (p = 0.127). Also, there was a moderate negative correlation with handgrip strength (r = -0.65, p<0.001). Regression analysis proved that kinesiophobia was a significant predictor of pain intensity, proprioception, and functional performance (p<0.05). This study infers that kinesiophobia in individuals with CNP predicts pain, proprioception, and functional performance. Kinesiophobia assessment should be considered in regular clinical practice to understand the barriers that can influence rehabilitation outcomes in CNP individuals.

DNAJC6 mutation causing cranial-onset dystonia with tremor dominant levodopa non-responsive parkinsonism: A novel phenotype.

DNAJC6 mutation causes two types of phenotypes: slowly progressive parkinsonism with levodopa response and rapidly progressive parkinsonism with additional manifestations like intellectual disability, epilepsy etc. We report a new phenotype wherein an adolescent girl developed blepharospasm followed by jaw opening, lingual and cervical dystonia followed by tremors of limbs (rest and action) with rigidity, bradykinesia. The dystonia-parkinsonism phenotype has not been described. She had novel homozygous missense mutation in DNAJC6 gene.

Cervical balance and clinical outcomes in cervical spondylotic myelopathy treated by three-level anterior cervical discectomy and fusion and hybrid cervical surgery: A CONSORT-compliant study with minimum follow-up period of 5 years.

ABSTRACT: As the technology of combining with fusion and nonfusion procedure, cervical hybrid surgery (HS) is an efficacious alternative for treatment with cervical spondylotic myelopathy. While studies on cervical alignment between 3-level HS and anterior cervical discectomy and fusion (ACDF) were seldom reported. The effects of cervical imbalance on its related clinical outcomes are yet undetermined as well.Patients with cervical spondylotic myelopathy, who underwent 3-level ACDF or HS, were included to compare cervical alignment parameters after surgery and then explore the relationship between cervical balance and clinical outcomes.Forty-one patients with HS (HS group) and 32 patients who with ACDF (ACDF group) were reviewed from February 2007 to September 2013 with the mean follow-up of 90.3 ±â€Š25.5 (m) and 86.3 ±â€Š28.9 (m), respectively. Cervical alignments parameters including the C2 to C7 cervical lordosis (CL), C2 to C7 sagittal vertical axis, T1 slope. and T1SCL (T1 slope minus CL), and the clinical outcomes like neck disability index (NDI) and Japanese Orthopedic Association (JOA) score were measured and recorded preoperatively (PreOP), intraoperatively, and on the first preoperative day and the last follow-up (FFU). The balance and imbalance groupings were sorted based on the T1SCL: T1SCL≤20°,balance; T1SCL > 20°, imbalance.We found significant improvements (P < .001) in NDI and JOA at intraoperatively and FFU after ACDF and HS, and no difference on cervical alignment and clinical outcomes between the 2 procedures on the basis of intergroup comparisons. By between-subgroups comparisons, however, we found significant differences in CL and T1SCL at PreOP (P < .05). Nonetheless, there was no significant difference on the clinical outcomes between balance and imbalance subgroups at FFU at PreOP (P > .05), indicating that the change of T1SCL was not correlated to NDI and JOA at FFU.Both HS and ACDF groups showed significant clinical improvements after surgery. There was no correlation between cervical balance and clinical symptoms.

Vestibulocollic and Cervicocollic Muscle Reflexes in a Finite Element Neck Model During Multidirectional Impacts.

Active neck musculature plays an important role in the response of the head and neck during impact and can affect the risk of injury. Finite element Human Body Models (HBM) have been proposed with open and closed-loop controllers for activation of muscle forces; however, controllers are often calibrated to specific experimental loading cases, without considering the intrinsic role of physiologic muscle reflex mechanisms under different loading conditions. This study aimed to develop a single closed-loop controller for neck muscle activation in a contemporary male HBM based on known reflex mechanisms and assess how this approach compared to current open-loop controllers across a range of impact directions and severities. Controller parameters were optimized using volunteer data and independently assessed across twelve impact conditions. The kinematics from the closed-loop controller simulations showed good average CORA rating to the experimental data (0.699) for the impacts following the ISO/TR9790 standard. Compared to previously optimized open-loop activation strategy, the average difference was less than 9%. The incorporation of the reflex mechanisms using a closed-loop controller can provide robust performance for a range of impact directions and severities, which is critical to improving HBM response under a larger spectrum of automotive impact simulations.

Spread of segmental/multifocal idiopathic adult-onset dystonia to a third body site.

BACKGROUND: Adult-onset focal dystonia can spread to involve one, or less frequently, two additional body regions. Spread of focal dystonia to a third body site is not fully characterized. MATERIALS AND METHODS: We retrospectively analyzed data from the Italian Dystonia Registry, enrolling patients with segmental/multifocal dystonia involving at least two parts of the body or more. Survival analysis estimated the relationship between dystonia features and spread to a third body part. RESULTS: We identified 340 patients with segmental/multifocal dystonia involving at least two body parts. Spread of dystonia to a third body site occurred in 42/241 patients (17.4%) with focal onset and 10/99 patients (10.1%) with segmental/multifocal dystonia at onset. The former had a greater tendency to spread than patients with segmental/multifocal dystonia at onset. Gender, years of schooling, comorbidity, family history of dystonia/tremor, age at dystonia onset, and disease duration could not predict spread to a third body site. Among patients with focal onset in different body parts (cranial, cervical, and upper limb regions), there was no association between site of focal dystonia onset and risk of spread to a third body site. DISCUSSION AND CONCLUSION: Spread to a third body site occurs in a relative low percentage of patients with idiopathic adult-onset dystonia affecting two body parts. Regardless of the site of dystonia onset and of other demographic/clinical variables, focal onset seems to confer a greater risk of spread to a third body site in comparison to patients with segmental/multifocal dystonia at onset.

The comparison of two corrective exercise approaches for hyperkyphosis and forward head posture: A quasi-experimental study.

BACKGROUND: Hyperkyphosis (HKP) and forward head posture (FHP) occur due to prolonged poor postures and repetitive activities. OBJECTIVE: The present study aimed to compare the effects of the National Academy of Sports Medicine (NASM) and Sahrmann corrective exercises on HKP and FHP correction. METHODS: This quasi-experimental study was conducted on 30 subjects with HKP and FHP, who were randomly assigned to the NASM (n= 15) and Sahrmann groups (n= 15). The ImageJ software and a spinal mouse device were used to measure FHP and HKP deformities, and neck and shoulder muscle strength, range of motion (ROM), and pulmonary function were assessed as the secondary outcomes before and after the eight-week intervention. RESULTS: FHP improved more significantly in the Sahrmann group compared to the NASM group (P< 0.05), while no significant difference was observed between the groups in HKP (P> 0.05). The improvement in the neck and shoulder muscle strength was more significant in the Sahrmann group compared to the NASM (P< 0.05), except for the neck flexors. In addition, the neck extension ROM enhanced more significantly in the Sahrmann group compared to the NASM group (P< 0.05). CONCLUSION: According to the results, the Sahrmann corrective exercises that focused on the correction of imbalanced muscle stiffness had more significant effects on the correction of FHP, neck and shoulder muscle strength and neck extension ROM.

Bioelectrical Impedance Analysis and Manual Measurements of Neck Circumference Are Interchangeable, and Declining Neck Circumference Is Related to Presarcopenia.

PURPOSE: Preventive medicine is important in an aging society. Presarcopenia is the preliminary stage of sarcopenia. Recent advances in bioelectrical impedance analysis (BIA) devices have enabled automatic estimation of neck circumference (NC). However, the agreement between and interchangeability of NC measured manually and that calculated with BIA have not been evaluated. We performed these analyses in the context of health checkups and investigated their associations with presarcopenia. METHODS: We enrolled 318 participants who underwent anthropometric measurements, including NC measured manually and by BIA; assessment of physical function; and blood testing. We used Bland-Altman analysis to calculate the agreement between and interchangeability of NC measurements by BIA and by the manual method. We then statistically compared normal participants and those with presarcopenia. Using multivariable analysis, we subsequently investigated significant risk factors for presarcopenia. We defined presarcopenia according to the appendicular skeletal muscle index (aSMI; the ratio of arm and leg skeletal muscle mass to height2). RESULTS: Bland-Altman analysis showed that bias (BIA-manual) was negative overall (-1.07), for male participants (-1.23), and for female participants (-0.96). This finding suggests that BIA measurement is an underestimate in comparison with manual measurement. NC measurement by BIA was found to be interchangeable with that by manual methods, inasmuch as the percentage error was less than 5% overall (4.38%), for male participants (3.81%), and for female participants (4.58%). Univariable analysis revealed that NC was significantly smaller in the participants with presarcopenia than in those without. Multivariable analysis, adjusted for confounding factors, revealed that a decrease in NC was significantly correlated with presarcopenia. CONCLUSIONS: BIA measurements of NC are interchangeable within about 95% with manual measurements. The decrease in NC measured by BIA was significantly associated with presarcopenia in both genders. NC measurement can be used for early detection of presarcopenia.

Understanding upper body playing-related musculoskeletal disorders among piano and non-piano players using a photogrammetry.

CONCLUSION: The obtained results conclude piano players are highly prone to the risk of developing PRMSD in the upper body. RESULTS: The findings showed piano players have a higher NDI, lower CVA, and RSP when compared with the non-piano players at a statistically significant level of p-value <0.05. OBJECTIVE: Playing-related musculoskeletal disorders (PRMSD) are a common problem for the pianist. The poor upper body ergonomics influences the natural positioning of the neck and shoulders, which involves forward head posture (FHP) and rounded shoulder posture (RSP). This misaligned position could produce a sensation of pain over the upper body, which affects the piano player and computer users with similar ergonomic posture. Recently, photogrammetry methods are commonly applied in a clinical setting to assess posture. The goal of this research is to compare the upper body playing-related muscu-loskeletal disorders between the piano and the non-piano players by applying photogrammetry. MATERIALS AND METHODS: This causal-comparative study includes 70 participants with 35 piano and 35 non-piano players. The participant's FHP was assessed using a digitized photo to record the Craniovertebral angle (CVA) with the support of Kinovea software. Besides, digital Vernier Calliper used to assess the scapular index on the RSP and Neck disability indices (NDI) used to measure neck pain and functional disability of the participants.

Genotype and phenotype in 18 Chinese patients with Coffin-Siris syndrome.

Coffin-Siris syndrome (CSS, MIM# 1359200) is a multisystem congenital disorder characterized by coarse facial features, hypoplasia of the fifth digits and nails, and intellectual disability. It is a genetically heterogeneous condition caused by pathogenic variants in genes encoding proteins of the BAF (BRG1-associated factors) chromatin modeling complex and its downstream transcriptional factor. To date over 220 CSS individuals with pathogenic variants found have been described in the literature. This case series reported 18 molecularly confirmed Chinese individuals (17 with ARIDIB (OMIM*614556) variants and one with SMARCB1 (OMIM*601607) variant) from 17 unrelated families in Hong Kong. The clinical features of these 18 Chinese CSS patients together with two previously reported Chinese patients with ARID1B variants were reviewed. Among the 19 Chinese patients with ARID1B variants, our data suggested a lower prevalence of feeding problem, autistic features, agenesis of corpus callosum (ACC) or partial/hypoplasia of corpus callosum, and sparse hair when compared with previous reports. There was appearing higher prevalence of digital hypoplasia. Digital hypoplasia was observed to become less noticeable with time in some patients. This report highlighted the age-dependent phenotypic presentation of CSS and ethnicity-related effect on ARID1B-CSS phenotype. Moreover, this series included the first family with molecularly confirmed maternal somatic mosaicism of ARID1B variant leading to familial CSS recurrence.

Subjective and Objective Measures in Assessing Neck Disability and Pain in Head and Neck Cancer.

OBJECTIVE/HYPOTHESIS: The intensification of treatment for head and neck cancers (HNCs) has created a cohort of patients living with short- and long-term comorbidities and functional deficits. This study aimed to determine whether there is a relationship between patient-reported outcomes (PROs) and objective measures of neck function in survivors of HNCs. STUDY DESIGN: Cross-sectional study. METHODS: Thirty-one subjects (aged 64 ± 8.7 years; 28 males and three females) were recruited and completed the Neck Disability Index (NDI) and a numeric pain scale. At the same visit, subjects were fitted with two portable motion sensors to collect range of motion (ROM) and velocity data. Differences between ROM, velocity, and PRO subgroups were assessed using a one-tailed t test (*P < .05). The Pearson correlation coefficient (r) was calculated between the NDI values and the ROM and velocity values for each motion. RESULTS: A moderate correlation (r = 0.507) was observed between NDI and neck pain. Patients with no disability according to the NDI had significantly higher ROM and velocity than patients with mild to moderate disability. Velocity in all degrees of freedom (axial rotation, flexion and extension, and lateral bending) was significantly lower for patients who perceived higher levels of neck pain and neck disability. CONCLUSIONS: This study notes that patients who report neck disability and pain have more limited ROM and velocity following HNC treatment. These data may improve treatment planning and care delivery by facilitating an understanding of the experiences of HNC survivors and the pathophysiology that must be targeted to address their psychosocial and functional deficits. LEVEL OF EVIDENCE: 4 Laryngoscope, 131:2015-2022, 2021.

Effectiveness of pediatric integrative manual therapy in cervical movement limitation in infants with positional plagiocephaly: a randomized controlled trial.

BACKGROUND: Positional plagiocephaly (PP) is a cranial deformation frequent amongst children and consisting in a flattened and asymmetrical head shape. PP is associated with excessive time in supine and with congenital muscular torticollis (CMT). Few studies have evaluated the efficiency of a manual therapy approach in PP. The purpose of this parallel randomized controlled trial is to compare the effectiveness of adding a manual therapy approach to a caregiver education program focusing on active rotation range of motion (AROM) and neuromotor development in a PP pediatric sample. METHODS: Thirty-four children with PP and less than 28 week-old were randomly distributed into two groups. AROM and neuromotor development with Alberta Infant Motor Scale (AIMS) were measured. The evaluation was performed by an examiner, blinded to the randomization of the subjects. A pediatric integrative manual therapy (PIMT) group received 10-sessions involving manual therapy and a caregiver education program. Manual therapy was addressed to the upper cervical spine to mobilize the occiput, atlas and axis. The caregiver educational program consisted in exercises to reduce the positional preference and to stimulate motor development. The control group received the caregiver education program exclusively. To compare intervention effectiveness across the groups, improvement indexes of AROM and AIMS were calculated using the difference of the final measurement values minus the baseline measurement values. If the distribution was normal, the improvement indexes were compared using the Student t-test for independent samples; if not, the Mann-Whitney U test was used. The effect size of the interventions was calculated using Cohen's d. RESULTS: All randomized subjects were analysed. After the intervention, the PIMT group showed a significantly higher increase in rotation (29.68 ± 18.41°) than the control group (6.13 ± 17.69°) (p = 0.001). Both groups improved the neuromotor development but no statistically significant differences were found. No harm was reported during the study. CONCLUSION: The PIMT intervention program was more effective in increasing AROM than using only a caregiver education program. The study has been retrospectively registered at clinicaltrials.gov, with identification number NCT03659032 . Registration date: September 1, 2018.