Pediatric torticollis: clinical report and predictors of urgency of 1409 cases.

BACKGROUND: To date, the etiology and risk factors of torticollis are still poorly defined in the pediatric literature. Especially in the Emergency Department (ED) scenario, it is critical to reliably distinguish benign and transient conditions from (potentially) life-threatening disorders. This study describes the clinical characteristics of a large sample of children with torticollis. The aim of our study was to detect epidemiology, etiology and predictive variables associated with a higher risk of life-threatening conditions in acute torticollis. METHODS: We conducted a pediatric retrospective study of acute torticollis over a 13-year period referred to the ED of a tertiary pediatric Hospital. We reported the characteristics in the overall sample and in two subgroups divided according to urgency of the underlying condition. Furthermore, we developed a multivariate model aimed at identifying the main clinical predictors of the need for urgent care. RESULTS: 1409 patients were analyzed (median age 5.7 years, IQR 5.8). A history of trauma was present in 393 patients (27.9%). The symptom most frequently associated with torticollis were pain (83.5%). At least one pathological finding was found in 5.4 to 7.9% of patients undergoing further imaging. Hospitalization was required in 11.1% of cases (median duration 4 days). The most frequent etiologies of torticollis were postural cause (43.1%), traumatic (29.5%), and infective/inflammatory (19.1%). A longer time from onset of torticollis and the presence of headache or vomiting were strongly correlated with an underlying urgent condition, after adjusting for the other clinically and statistically significant variables in the bivariate analysis. CONCLUSION: Our study shows that an urgent condition most commonly occur in patients presenting with history of trauma or headache, vomiting and torticollis for more than 24 h should undergo further diagnostic evaluation and short-term follow-up, restricting invasive or expensive investigations to patients with clinical suspicion of an underlying harmful condition.

The natural course of idiopathic cervical dystonia.

Idiopathic cervical dystonia (ICD) is by far the largest subgroup of dystonia. Still, its natural course is largely unknown. We studied the natural course of 100 ICD patients from our botulinum toxin clinics (age at ICD onset 45.8 ± 13.5 years, female/male ratio 2.0) over a period of 17.5 ± 11.5 years with follow-ups during botulinum toxin therapy and with semi-structured interviews. Two courses of ICD could be distinguished by symptom development of more or less than 6 months. ICD-type 2 was less frequent (19% vs 81%, p < 0.001), had a more rapid onset (8.7 ± 8.0 weeks vs 3.8 ± 3.5 years), a higher remission rate (92% vs 5%, p < 0.001) and a higher prevalence of excessive psychological stress preceding ICD (63% vs 1%, p < 0.001). In both ICD-types, the plateau phase was non-progressive. Significant differences in patient age at ICD onset, latency and extent of remission, female/male ratio and prevalence of family history of dystonia could not be detected. ICD is a non-progressive disorder. ICD-type 1 represents the standard course. ICD-type 2 features rapid onset, preceding excessive psychological stress and a high remission rate. These findings will improve prognosis, treatment strategies and understanding of underlying disease mechanisms. They contradict the widespread fear of patients of a constant and continued decline of their condition. Excessive psychological stress may be an epigenetic factor triggering the manifestation of genetically predetermined dystonia.

Experience with the management of 2599 cases of congenital muscular torticollis and a multicenter epidemiological investigation in 17 hospitals in China.

BACKGROUND: Congenital muscular torticollis (CMT) is a common musculoskeletal disease affecting infants and young children. If CMT is not treated correctly and timely, it can lead to limited head and neck movements, head and neck deviation, and abnormal posture. In order to improve patients' symptoms and alleviate the negative impact of the disease on their lives, we are committed to exploring the treatment of CMT. METHODS: The general clinical and ultrasonographic data of 2599 children with CMT who received standardized treatment at Shenzhen Children's Hospital from 2004 to 2020 were retrospectively reviewed. According to given treatment, children with CMT were divided into the physiotherapy group, physiotherapy combined with glucocorticoid treatment group, and surgical treatment group. We divided children with CMT into local mass, uniform thickening, and atrophy according to ultrasound features. General clinical information, treatment, and ultrasound examination data in each group were compared. Additionally, electronic medical records of 2344 patients admitted due to CMT in 17 tertiary children's hospitals of China's Futang Research Center of Pediatric Development (FRCPD) from 2015 to 2019 were retrospectively analyzed. Data on sex, age, year of admission and discharge, and treatment costs during hospitalization were extracted from the first medical record pages according to the ICD codes. The data were assessed for normality using the Kolmogorov-Smirnov test. Depending on the data distribution, they were analyzed using parametric tests, such as the t-test, or non-parametric tests. Qualitative data are expressed as percentages (%) and analyzed using the chi-square or Fisher's exact probability test, with α = 0.05 as the test level. P < 0.05 was considered to be indicative of a statistically significant difference. RESULTS: Three types of CMT were defined based on sternocleidomastoid muscle ultrasound examination characteristics: local mass, uniform thickening, and atrophy. Age at first diagnosis was 69.21 ± 108.41 days in local mass type group, 216.85 ± 324.09 days in uniform thickening group, and 417.88 ± 739.05 days in atrophy- type group; while age at first physiotherapy use was 94.06 ± 206.49 days, 255.00 ± 430.62 days, 540.92 ± 1059.29 respectively. The children included in local mass type group have shown a high success rate of conservative treatment, with a rate of 7.5% of children underwent surgery. Age at first diagnosis was 112.44 ± 224.12 days in the physiotherapy group, 115.87 ± 144.86 days in the physiotherapy combined with glucocorticoid treatment subgroup, whereas the age at first physiotherapy use was 137.38 ± 312.11 and 196.91 ± 344.26 days respectively. In the observation period (2015-2019) the mean age at surgery for CMT in 17 tertiary children's hospitals of the FRCPD was 50 months. Overall, 663 children with CMT were 1-2 years of age, accounting for the largest proportion (28.3%). Followed by 417 individuals (17.8%) were 7-14 years of age, indicating that there are still more children with CMT receiving surgical treatment later. CONCLUSIONS: Early diagnosis and treatment are essential to improve the conservative treatment success rate and achieve good prognosis in children with CMT. Our team's concept for treating CMT is as follows: after diagnosing the children, we will adopt the standardized protocol of treatment, with physiotherapy combined with the injection of glucocorticoid drugs and SCM release surgery, when needed. This program has a high conservative treatment success rate and may facilitate the achievement of better prognosis and reduced teratogenicity rate.

Dystonia phenomenology and treatment response in migraine.

OBJECTIVE: To describe the phenomenology of cervical dystonia (CD) in patients with migraine and the effect of its treatment on migraine frequency. BACKGROUND: Preliminary studies demonstrate that treatment of CD with botulinum toxin in those with migraine can improve both conditions. However, the phenomenology of CD in the setting of migraine has not been formally described. METHODS: We conducted a single-center, descriptive, retrospective case series of patients with a verified diagnosis of migraine who were referred to our movement disorder center for evaluation of co-existing, untreated CD. Patient demographics, characteristics of migraine and CD, and effects of cervical onabotulinumtoxinA (BoTNA) injections were recorded and analyzed. RESULTS: We identified 58 patients with comorbid CD and migraine. The majority were female (51/58 [88%]) and migraine preceded CD in 72% (38/53) of patients by a mean (range) of 16.0 (0-36) years. Nearly all the patients had laterocollis (57/58) and 60% (35/58) had concurrent torticollis. Migraine was found to be both ipsilateral and contralateral to the dystonia in a comparable proportion of patients (11/52 [21%] vs. 15/52 [28%]). There was no significant relationship between migraine frequency and dystonia severity. Treatment of CD with BoTNA reduced migraine frequency in most patients (15/26 [58%] at 3 months and 10/16 [63%] at 12 months). CONCLUSIONS: In our cohort, migraine often preceded dystonia symptoms and laterocollis was the most described dystonia phenotype. The lateralization and severity/frequency of these two disorders were unrelated, but dystonic movements were a common migraine trigger. We corroborated previous reports that cervical BoTNA injections reduced migraine frequency. Providers treating patients with migraine and neck pain who are not fully responding to typical therapies should screen for possible CD as a confounding factor, which when treated can reduce migraine frequency.

Thyroid disease in cervical dystonia.

There are many possible etiologies for cervical dystonia (CD), but a cause cannot be identified in most cases. Most recent attention has focused on genetic causes, although a few prior studies have highlighted autoimmune mechanisms instead. Because autoimmune disorders frequently co-exist, the current study evaluated the hypothesis that autoimmune disorders might be more common in CD than neurological controls. The frequency of 32 common autoimmune disorders was evaluated using a systematic survey comparing 300 subjects with CD with 391 neurological controls. The frequency of thyroid disease was significantly higher in CD (20%) compared with controls (6%). Regression analyses that accounted for age and sex revealed an odds ratio of 4.5 (95% CI 2.5-8.1, p < 0.001). All other autoimmune disorders occurred with similar frequencies in CD and controls. Although these studies do not establish a mechanistic link between CD and autoimmune disease, they suggest the need for further attention to a potential relationship, and more specifically with thyroid disease.

Impact of Depression on Cognitive Function and Disease Severity in Idiopathic Cervical Dystonia Patients: One-Center Data in Cross-Sectional Study.

Background: Cervical dystonia is a highly disabling hyperkinetic movement disorder with a lot of nonmotor symptoms. One symptom with a high prevalence is depression, which may negatively affect dystonia patients. The aim of the study was to investigate the impact of depression on disease severity and cognitive functions in cervical dystonia patients. Methods: Patients with cervical dystonia were interviewed and divided into two groups, based on the Patient Health Questionnaire-9: those with no depression or mild depressive features and those with moderate, moderately severe, and severe depression. The severity of dystonia and cognitive functions were assessed and compared in both groups. Results: A total of 52 patients were investigated. Self-assessment of the disease was more negative in clinically significant depressive signs group (p = 0.004), with a tendency for patients with clinically significant depressive features to have a slightly higher score on objective dystonia scales (TSUI and TWSTRS), but without statistically significant differences (p = 0.387 and p = 0.244, respectively). Although not statistically significant, a slightly higher MoCA scale score was registered in cervical dystonia patients with clinically insignificant depressive signs. There was a tendency for worse results in the abstraction category in patients with clinically significant depression (p = 0.056). Conclusions: Patients with clinically significant depression have a more negative self-assessment of the disease and perform worse in abstraction tasks.

The epidemiology of dystonia: the Hannover epidemiology study.

The prevalence of dystonia has been studied since the 1980s. Due to different methodologies and due to varying degrees of awareness, resulting figures have been extremely different. We wanted to determine the prevalence of dystonia according to its current definition, using quality-approved registries and based on its relevance for patients, their therapy and the health care system. We applied a service-based chart review design with the City of Hannover as reference area and a population of 525,731. Barrier-free comprehensive dystonia treatment in few highly specialised centres for the last 30 years should have generated maximal dystonia awareness, a minimum of unreported cases and a high degree of data homogeneity. Prevalence [n/1mio] and relative frequency is 601.1 (100%) for all forms of dystonia, 251.1 (42%) for cervical dystonia, 87.5 (15%) for blepharospasm, 55.2 (9%) for writer's cramp, 38.0 (6%) for tardive dystonia, 32.3 (5%) for musician's dystonia, 28.5 (5%) for psychogenic dystonia, 26.6 (4%) for generalised dystonia, 24.7 (4%) for spasmodic dysphonia, 20.9 (3%) for segmental dystonia, 15.2 (3%) for arm dystonia and 13.3 (2%) for oromandibular dystonia. Leg dystonia, hemidystonia and complex regional pain syndrome-associated dystonia are very rare. Compared to previous meta-analytical data, primary or isolated dystonia is 3.3 times more frequent in our study. When all forms of dystonia including psychogenic, generalised, tardive and other symptomatic dystonias are considered, our dystonia prevalence is 3.7 times higher than believed before. The real prevalence is likely to be even higher. Having based our study on treatment necessity, our data will allow better allocation of resources for comprehensive dystonia treatment.

Non-motor phenotypic subgroups in adult-onset idiopathic, isolated, focal cervical dystonia.

BACKGROUND: Non-motor symptoms are well established phenotypic components of adult-onset idiopathic, isolated, focal cervical dystonia (AOIFCD). However, improved understanding of their clinical heterogeneity is needed to better target therapeutic intervention. Here, we examine non-motor phenotypic features to identify possible AOIFCD subgroups. METHODS: Participants diagnosed with AOIFCD were recruited via specialist neurology clinics (dystonia wales: n = 114, dystonia coalition: n = 183). Non-motor assessment included psychiatric symptoms, pain, sleep disturbance, and quality of life, assessed using self-completed questionnaires or face-to-face assessment. Both cohorts were analyzed independently using Cluster, and Bayesian multiple mixed model phenotype analyses to investigate the relationship between non-motor symptoms and determine evidence of phenotypic subgroups. RESULTS: Independent cluster analysis of the two cohorts suggests two predominant phenotypic subgroups, one consisting of approximately a third of participants in both cohorts, experiencing increased levels of depression, anxiety, sleep impairment, and pain catastrophizing, as well as, decreased quality of life. The Bayesian approach reinforced this with the primary axis, which explained the majority of the variance, in each cohort being associated with psychiatric symptomology, and also sleep impairment and pain catastrophizing in the Dystonia Wales cohort. CONCLUSIONS: Non-motor symptoms accompanying AOIFCD parse into two predominant phenotypic sub-groups, with differences in psychiatric symptoms, pain catastrophizing, sleep quality, and quality of life. Improved understanding of these symptom groups will enable better targeted pathophysiological investigation and future therapeutic intervention.

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.

Development of parkinsonism after long-standing cervical dystonia - A cohort.

INTRODUCTION: Dystonia occurring in the context of parkinsonism is well-known, e.g. as foot dystonia in young-onset Parkinson's disease (PD), anterocollis in multisystem atrophy (MSA) or blepharospasm (levator inhibition) in progressive supranuclear palsy. We have, however, encountered a series of patients whose phenotype differed from the above described entities. METHODS: We describe a cohort of patients in whom typical idiopathic isolated (primary) late-onset focal or segmental (predominantly cervical) dystonia preceded the development of parkinsonism by several years, sometimes decades. RESULTS: In a cohort of 450 patients followed in our botulinum toxin injections clinic, we identified 11 (2.4%; 7 women) who developed parkinsonism at a median of 14 years after the onset of dystonia. Median age at onset of parkinsonism was 70 years (range 59-87), usually manifesting with a new tremor or a change of tremor pattern, complaints of 'slowing down' or new walking difficulties. Parkinsonism resembled PD in 5 (one pathologically confirmed); the remainder had atypical parkinsonism of MSA (n = 3) or indeterminate phenotype (n = 3). CONCLUSION: The relatively frequent occurrence of parkinsonism after long-standing dystonia would suggest a link between the two, in line with evidence from other clinical reports, imaging studies, animal models and genetics. It appears that in some cases of dystonia this could be an antecedent manifestation of a syndrome with parkinsonism developing later, or be a risk factor for parkinsonism. In practice, it is important for clinicians to be alert to new symptoms/signs in patients with long-standing dystonia. From a research point of view, longitudinal case-control studies would be required to further investigate the link between long-standing dystonia and subsequent parkinsonism.

Head tremor and pain in cervical dystonia.

BACKGROUND: Although head tremor (HT) and pain are prevalent in cervical dystonia (CD), their joint relationship to phenotypic features of focal dystonia remains unclear. OBJECTIVES: We examined how severity of HT and pain are associated with age of CD onset and duration, and whether HT subtypes ("jerky" or "regular") exhibit distinct relationships between severity of HT and pain. METHODS: The severity of HT and pain were assessed with the Toronto Western Spasmodic Torticollis Rating Scale in retrospective review of 188 CD patients recruited through the Dystonia Coalition. RESULTS: HT severity was associated with longer CD duration (p < 0.0005), whereas pain severity was associated with younger age at onset (p = 0.043). HT severity and pain severity were not correlated for jerky HT (p = 0.996), but positively correlated for regular HT (p = 0.01). CONCLUSIONS: The distinct associations of HT and pain with age at onset, disease duration, and HT subtype further characterize the heterogeneity of CD's clinical presentation and suggest similarly heterogeneous underlying mechanisms.

Torticollis in infants with neonatal abstinence syndrome.

OBJECTIVE: To report the incidence of torticollis diagnosed in infants treated for neonatal abstinence syndrome (NAS) and compare neonates with and without torticollis. STUDY DESIGN: This prospective cohort study reports on infants examined at 1-4 months of age. Numerous obstetrical/newborn factors and other drugs used during gestation were compared. RESULTS: Of 501 neonates treated for NAS, 421 (84%) were seen for follow-up. Of these, 105 (24.9%) were diagnosed with torticollis. The only significant obstetrical/newborn factor identified was a lower rate if the parents were the primary caregiver after hospital discharge. Of the 105 cases, 88 (84%) were right-sided and 17 (16%) were left-sided. CONCLUSIONS: These data demonstrate that torticollis is a common diagnosis in infants examined at 1-4 months of age after being treated for NAS with a predilection for this to be right-sided. The etiology for this is uncertain, but newborns treated for NAS need close follow-up post discharge.

Demographic and clinical determinants of neck pain in idiopathic cervical dystonia.

Cervical dystonia is associated with neck pain in a significant proportion of cases, but the mechanisms underlying pain are largely unknown. In this exploratory study, we compared demographic and clinical variables in cervical dystonia patients with and without neck pain from the Italian Dystonia Registry. Univariable and multivariable logistic regression analysis indicated a higher frequency of sensory trick and a lower educational level among patients with pain.

Tremor in Idiopathic Cervical Dystonia - Possible Implications for Botulinum Toxin Treatment Considering the Col-Cap Classification.

Background: Tremor is an important phenotypic feature of dystonia. Using the new concept (Col-Cap) of classification we examined the frequency of tremor in cervical dystonia (CD) patients, their main subtypes and muscles injected. Methods: In this large study conducted at multiple movement disorder centres in Europe and India, between January and June 2019, we examined 293 patients with idiopathic CD who were all treated with botulinum toxin (BTX). Results: The dystonic head tremor (DHT+) was present in 57.6 % of CD patients and they had a significantly longer duration of symptoms than patients without head tremor (DHT-). In DHT+ patients torticaput was the most common subtype and the majority (63.3%) had one or two subtypes only. There was no significant difference between the number of unilateral injections for any of the muscles in the DHT+ and DHT- groups, while the number of patients receiving bilateral injections in splenius capitis (78 vs 25; p = 0.00001), sternocleidomastoid (31 vs 6; p = 0.0005), trapezius (28 vs 9; p = 0.01), and obliquus capitis inferior (15 vs 2; p = 0.008) were significantly more in the DHT+ group. The mean doses of all three types of BTX/A were not significantly different between the two groups. Conclusions: The frequency of head tremor was 57.6% in our CD patients and torticaput was the most common dystonic subtype associated with tremor. Simple forms of CD seemed more likely associated with head tremor, than complex forms of CD. Most of the DHT+ patients received bilateral injections. The use of 'Col-Cap' classification was helpful in the identification of muscles likely to be involved in tremor in CD patients.

Headache attributed to craniocervical dystonia: A prospective cohort study.

BACKGROUND: Cervical dystonia is the most common form of focal idiopathic dystonia and is frequently associated with pain. Headaches are not considered to be more prevalent among patients presenting with cervical dystonia, and headaches attributed to craniocervical dystonia are considered to be a rare disorder, despite the lack of studies and clinical information regarding the subject. OBJECTIVES: To investigate the prevalence, characteristics and impact of headaches attributed to craniocervical dystonia in cervical dystonia patients receiving treatment with botulinum toxin type-A (BoT-A). METHODS: Twenty-four patients presenting with cervical dystonia were assessed before receiving their scheduled BoNT-A injections and then again approximately 4 and 16 weeks after, regarding the clinical characteristics of their dystonia and headaches. Headaches were classified in accordance with the current International Classification of Headache Disorders. We used the Short Form-36 Health Survey, Hospital Anxiety and Depression Scale, Headache Impact Test-6, Toronto Western Spasmodic Torticollis Rating Scale and McGill Pain Questionnaire. RESULTS: Nineteen patients (79.1%) presented with cervical dystonia associated with pain and 18 (75.0%) with headaches. The prevalence of headaches attributed to craniocervical dystonia was 29.2%; HIT-6: 60.1 ± 9.9. Patients with headaches presented significantly poorer TWSTRS pain scores, compared to patients with no headaches. Those with headaches attributed to craniocervical dystonia presented with more disability and demonstrated a significant improvement in the impact of headaches after BoNT-A injections, together with an improvement in the dystonia. CONCLUSIONS: Headaches are highly prevalent amongst cervical dystonia patients, have an impact on their quality of life and improves after BoNT-A injections. SIGNIFICANCE: We found that headaches are more frequent among patients with cervical dystonia than previously thought, and that they contribute towards an overall increase in pain in these patients. Headaches attributed to craniocervical dystonia are associated with greater disability among patients with cervical dystonia. These headaches improve after botulinum toxin injections, in parallel with the improvement of cervical dystonia symptoms.

The Prevalence of Dystonic Tremor and Tremor Associated with Dystonia in Patients with Cervical Dystonia.

The link between dystonia and tremor has been known for decades, but the question of whether they are two separate illnesses or just different manifestations of one disease with the same pathophysiological background remains unanswered. We distinguish two types of tremor in dystonia: dystonic tremor (DT), which appears on the body part affected by dystonia, and tremor associated with dystonia (TAWD), which appears in locations where the dystonia does not occur. In this study, the frequency of occurrence of different forms of tremor was determined by clinical examination in a group of adult-onset isolated cervical dystonia (CD) patients treated with regular local injections of botulinum toxin A in our department. In total, 120 patients were included in the study, of which 70 (58.3%) had DT of the head. TAWD was, in all 14 cases (11.7%), observed on the upper limbs, in the form of static or intentional tremor. The aim of this study was to point out the presence of TAWD as one of the clinical signs of CD. DT occurred in more than half of the patients and appears to be a relatively common part of the clinical picture in patients with CD.

[Sleep disorders in patients with cervical dystonia]. / Narusheniya sna u patsientov s tservikal'noi distoniei.

AIM: To clarify the structure of sleep disorders in cervical dystonia and assess their relationship with anxiety and depressive disorders, as well as the impact on quality of life. MATERIAL AND METHODS: Twenty-five patients diagnosed with cervical dystonia (CD) were examined using neurological and psychometric methods (HADS, HAM-D, TAS, SCID-II, SF-36, PSQI). Polysomnographic study was performed using a Somnolab 2 system (Weinmann, Germany). RESULTS: Nineteen patients (76%) from the total sample showed increases in anxiety and depression. Sleep disorders were detected in all patients diagnosed with anxiety and depressive disorders. According to questionnaires, anxiety, depression, and sleep disturbances were significantly correlated with patients' quality of life. The most common sleep disorders were intrasomic disorders (waking up during sleep) (n=19; 76%), less common were presomnic (n=8; 32%) and postsomnic (n=11; 44%). Motor symptoms caused sleep disturbances only in 10 patients (40%). The specific features of sleep disorders in patients with CD detected by polysomnography are a decrease in the representation of delta-sleep, along with an increase in the phase of REM sleep, compared to physiological normal values. CONCLUSIONS: Sleep disturbances (mainly frequent waking during sleep) are widely represented in patients with cervical dystonia, are comorbid to anxiety and depressive disorders and significantly correlate with the poorer quality of life.

Prevalence of Hip Dysplasia and Associated Conditions in Children Treated for Idiopathic Early-onset Scoliosis-Don't Just Look at the Spine.

BACKGROUND: Hip dysplasia, congenital muscular torticollis, plagiocephaly, and metatarsus adductus are known to be associated. The etiology of infantile idiopathic scoliosis and its association with the aforementioned conditions is unknown. This study reviews a series of infantile scoliosis patients to address this gap. METHODS: The medical records of all patients treated with casting for early-onset scoliosis (EOS) from 2001 to 2016 were retrospectively reviewed. Inclusion criteria were a diagnosis of idiopathic EOS and age below 4 years at the time of the first cast. Demographic information, comorbid conditions, and radiographic measurements including Cobb angle and acetabular index (AI) were collected. The first acceptable anteroposterior pelvis radiograph for each patient was measured. An AI≥30 degrees was defined as hip dysplasia. A measurement between 25 and 30 degrees was defined as a "hip at risk." RESULTS: Between 2001 and 2016, 142 patients were treated with casting. Eighty-one patients met the inclusion criteria. The mean age at the first cast was 19.3 (±7.5) months and the mean Cobb angle was 53.6 (±18.8) degrees. There was no significant correlation between Cobb angle and AI. Nine patients met radiographic criteria for hip dysplasia (11.1%), only 4 of whom had been previously diagnosed. Thirty-six patients (44.4%) met the criteria of having at least 1 hip "at risk" of hip dysplasia. Ten patients (12.3%) had been diagnosed with torticollis and 13 patients (16.0%) with plagiocephaly. Three patients (3.7%) had been diagnosed with metatarsus adductus or clubfoot. In total, 30.9% of patients (25/81) had at least one of the above comorbid conditions. CONCLUSIONS: In a large group of children treated for idiopathic EOS, we found a high prevalence of commonly associated conditions-hip dysplasia, torticollis, plagiocephaly, metatarsus adductus, and clubfoot. In 6.2% of our sample, a diagnosis of hip dysplasia was not made in a timely manner despite routine radiographic spine follow-up. With increasing subspecialization within pediatric orthopaedics, surgeons need to maintain vigilance in assessing the entire child. LEVEL OF EVIDENCE: Level IV.

Cervical dystonia incidence and diagnostic delay in a multiethnic population.

BACKGROUND: Current cervical dystonia (CD) incidence estimates are based on small numbers in relatively ethnically homogenous populations. The frequency and consequences of delayed CD diagnosis is poorly characterized. OBJECTIVES: To determine CD incidence and characterize CD diagnostic delay within a large, multiethnic integrated health maintenance organization. METHODS: We identified incident CD cases using electronic medical records and multistage screening of more than 3 million Kaiser Permanente Northern California members from January 1, 2003, to December 31, 2007. A final diagnosis was made by movement disorders specialist consensus. Diagnostic delay was measured by questionnaire and health utilization data. Incidence rates were estimated assuming a Poisson distribution of cases and directly standardized to the 2000 U.S. census. Multivariate logistic regression models were employed to assess diagnoses and behaviors preceding CD compared with matched controls, adjusting for age, sex, and membership duration. RESULTS: CD incidence was 1.18/100,000 person-years (95% confidence interval [CI], 0.35-2.0; women, 1.81; men, 0.52) based on 200 cases over 15.4 million person-years. Incidence increased with age. Half of the CD patients interviewed reported diagnostic delay. Diagnoses more common in CD patients before the index date included essential tremor (odds ratio [OR] 68.1; 95% CI, 28.2-164.5), cervical disc disease (OR 3.83; 95% CI, 2.8-5.2), neck sprain/strain (OR 2.77; 95% CI, 1.99-3.62), anxiety (OR 2.24; 95% CI, 1.63-3.11) and depression (OR 1.94; 95% CI, 1.4-2.68). CONCLUSIONS: CD incidence is greater in women and increases with age. Diagnostic delay is common and associated with adverse effects. © 2019 International Parkinson and Movement Disorder Society.