Relationship between Clinical Parameters and Chromosomal Microarray Data in Infants with Developmental Delay.

Chromosomal microarray (CMA) is considered a first-tier test for genetic analysis as it can be used to examine gene copy number variations (CNVs) throughout the entire genome, with enhanced sensitivity for detecting submicroscopic deletions and duplications. However, its cost can represent a heavy burden. Moreover, the diagnostic yield of CMA in infants with developmental delay (DD) was reported to be less than 10%. Therefore, we aimed to investigate the relationship between CMA results and clinical features and risk factors of DD. The study included 59 infants with DD who were recruited between August 2019 and February 2020 during a visit to the outpatient clinic of a rehabilitation department. We reviewed the clinical records of the infants regarding gender, age, body weight at birth, delivery method, brain imaging data, perinatal history, and parent-related clinical parameters, such as mother and father age at birth. The infants were categorized according to CMA results, and differences in clinical parameters were evaluated. Except for brain anomalies, there was no statistically significant differences between infants who had pathogenic and variants of unknown significance (VOUS)-likely pathogenic CNVs groups compared with those within the VOUS-likely no sub-classification, VOUS-likely benign, benign, and normal CNVs groups. The incidence of brain anomalies was significantly higher within infants with pathogenic and VOUS-likely pathogenic CNVs groups (p < 0.05). Our study suggests that infants with DD who present dysmorphism or brain anomaly may benefit from early CMA analysis, for adequate diagnosis and timely treatment. Further studies are warranted to confirm the relationship between DD clinical parameters and CMA results.

Body Weight at Birth: The Only Risk Factor Associated with Contralateral Clavicular Fracture in Patients with Congenital Muscular Torticollis.

To date and to the best of our knowledge, there have been limited studies on the risk factor of clavicle fracture combined with congenital muscular torticollis (CMT), despite it being the most common fracture in newborns. So, the aim of this study was to investigate the risk factors associated with clavicular fracture combined with CMT, and its effect on prognosis. In this study, a total of 134 infants with CMT were included. The risk factors associated with clavicular fracture combined with CMT were analyzed. To analyze the correlation between the clinical parameters and the clavicular fracture in patients with CMT, demographic data, such as body weight at birth, maternal age, gender, gestational age, delivery method, sternocleidomastoid (SCM) thickness of ipsilateral side, its ratio between the ipsilateral and contralateral side, and the first visitation date after birth were evaluated. In the results of this study, the clavicular fracture was found in 15 of 134 patients with CMT (19%). In multivariate logistic analysis, the body weight at birth was the only significant parameter for predicting clavicular fracture in patients with CMT (p-value < 0.05). However, there was no significant difference of treatment duration between CMT infants with or without clavicular fracture. In infants with CMT, the area under the ROC curve of the body weight at birth for predicting clavicular fracture was 0.659 (95% CI, 0.564-0.745.; p < 0.05). The optimal cut-off value obtained from the maximum Youden index J was 3470 g (sensitivity: 57.14%, specificity: 75.76%), and the odd ratio of clavicular fracture in patients with CMT increased by 1.244 times for every 100 g of body weight at birth. In conclusion, birth weight appears to be a clinical predictor of clavicular fracture in infants with CMT. More studies and discussions are needed on whether any screening should be recommended for detecting the concurrent clavicular fracture in subjects with CMT.

Is abdominal hollowing exercise using real-time ultrasound imaging feedback helpful for selective strengthening of the transversus abdominis muscle?: A prospective, randomized, parallel-group, comparative study.

Despite the importance of strengthening of the transversus abdominis (TrA) muscle in individuals with low back pain, the effect of real-time ultrasound imaging on maintenance in selective strengthening of abdominal hallowing exercise (AHE) performance has not been investigated. So, the aim of this study was to investigate the effects of AHE with real-time ultrasound imaging feedback on selective reinforcing the TrA muscle.Twenty healthy subjects were enrolled prospectively and randomized to train AHE for 2 weeks either by conventional feedback (group A) or by visual feedback from real-time ultrasound imaging additional to conventional feedback (group B). The changes in thickness of TrA, internal oblique abdominal muscle (IO), and external oblique abdominal muscle (EO) were measured using the ultrasonography. The changes in muscle activities of TrA-IO and EO were measured using surface electromyography.The thickness of TrA, IO, and EO muscles in resting was not significantly changed in both groups A and B. However, the ratio of root mean square (RMS) values of TrA-IO/EO muscles, which mirrors selective contraction of TRA-IO muscles against EO muscle, was significantly higher in group B than in group A.In healthy subjects, training with AHE using real-time ultrasound imaging feedback may be a useful additional method to conventional feedback for strengthening the TrA muscles selectively.

The effect of radionuclide solution volume on the detection rate of salivary aspiration in the radionuclide salivagram: A STROBE-compliant retrospective study.

Despite the possibility that the methodological difference of this salivagram may influence the results for detection rate, there has been no study on the effect of the solution volume on detection rate. Moreover, to date, since the introduction of the nucleotide salivagram, there has been a tendency that a constant solution volume and nucleotide dose is not used in studies. Therefore, the aim of this study is to investigate the effect of solution volume on the detection rate of a salivagram in patients with brain lesion, and to determine the optimal solution volume of salivagram. We retrospectively reviewed clinical data and solution volume of radionuclide used in the salivagram of 77 patients with dysphagia, and the patients were divided into 2 groups according to the solution volume of the radionuclide (Group A-0.1 mL vs Group B-0.5 mL). Although, there was no significant difference between 2 groups in clinical data, there was a statistically significant difference in the detection rate of salivary aspiration between the 2 groups (3.3% vs 19.1%). Even a small difference of the solution volume of radionuclide in salivagram can affect the detection rate of salivary aspiration in patients with brain lesion. Further study with various solution volumes of radionuclide is warranted to determine the optimal solution volume of the radionuclide salivagram.

Treatment of Ramsay-Hunt's syndrome with multiple cranial nerve involvement and severe dysphagia: A case report.

RATIONALE: Ramsay-Hunt's syndrome (RHS) is a disorder characterized by facial paralysis, herpetic eruptions on the auricle, and otic pain due to the reactivation of latent varicella zoster virus in the geniculate ganglion. A few cases of multiple cranial nerve invasion including the vestibulocochlear nerve, glossopharyngeal nerve and vagus nerve have been reported. However, there has been no report about RHS with delayed onset multiple cranial nerve involvement causing severe aspiration, and a clinical course that improved after more than one year of dysphagia rehabilitation and percutaneous endoscopic gastrostomy (PEG). Here, we report on a 67-year old male with delayed onset swallowing difficulty after 16 days of RHS development. PATIENT CONCERN: Severe aspiration during swallowing. DIAGNOSIS: Severe dysphagia caused by RHS with multiple cranial nerve involvement. INTERVENTION: Application of percutaneous endoscopic gastrostomy (PEG) and rehabilitation therapy of dysphagia. OUTCOMES: After 13 months from symptom onset, his PAS improved from 7 to 2 in follow-up video-fluoroscopic swallowing study (VFSS). Then, he was re-admitted, and the PEG tube was removed and oral feeding was started. LESSONS: This case gives us the lesson that optimal doses of acyclovir and corticosteroids are important to prevent progression of multiple cranial involvement in RHS, and swallowing difficulty in RHS patients with multiple cranial nerve involvement can be improved through long-term rehabilitation even if there is no improvement for more than one year.

Verbal auditory agnosia in a patient with traumatic brain injury: A case report.

RATIONALE: Verbal auditory agnosia is the selective inability to recognize verbal sounds. Patients with this disorder lose the ability to understand language, write from dictation, and repeat words with reserved ability to identify nonverbal sounds. However, to the best of our knowledge, there was no report about verbal auditory agnosia in adult patient with traumatic brain injury. PATIENT CONCERNS: He was able to clearly distinguish between language and nonverbal sounds, and he did not have any difficulty in identifying the environmental sounds. However, he did not follow oral commands and could not repeat and dictate words. On the other hand, he had fluent and comprehensible speech, and was able to read and understand written words and sentences. DIAGNOSIS: Verbal auditory agnosia INTERVENTION:: He received speech therapy and cognitive rehabilitation during his hospitalization, and he practiced understanding of verbal language by providing written sentences together. OUTCOMES: Two months after hospitalization, he regained his ability to understand some verbal words. Six months after hospitalization, his ability to understand verbal language was improved to an understandable level when speaking slowly in front of his eyes, but his comprehension of verbal sound language was still word level, not sentence level. LESSONS: This case gives us the lesson that the evaluation of auditory functions as well as cognition and language functions important for accurate diagnosis and appropriate treatment, because the verbal auditory agnosia tends to be easily misdiagnosed as hearing impairment, cognitive dysfunction and sensory aphasia.

The effectiveness of 2 consecutive intra-articular polydeoxyribonucleotide injections compared with intra-articular triamcinolone for hemiplegic shoulder pain: A STROBE-complaint retrospective study.

The aim of this study was to investigate the effects of intra-articular injection of polydeoxyribonucleotide (PDRN), compared with intraarticular triamcinolone (TA) injection, in subacute stroke patients with hemiplegic shoulder pain (HSP).Participants were subacute stroke patients with HSP who had undergone 2 consecutive intra-articular injections of TA or PDRN.Numeric rating scale (NRS) and passive range of motion (PROM) of hemiplegic shoulder were evaluated until 4 weeks after 2nd injection.In the results, there were significant improvements in all PROM measures 2 weeks after the second injection, compared with pre-injection results, in both groups (P < .05). In the PDRN group, however, none of the PROM measures were significantly improved at 3 and 4 weeks after the second injection, compared with pre-injection results (P ≥ .05). When comparing pre-injection results with those at 4 weeks after the second injection, all PROM and NRS measures in the TA group were more improved than in the PDRN group, but this was not statistically significant (P ≥ .05).In conclusion, considering the systemic side effects of steroids, especially among patients with diabetes or metabolic syndrome, PDRN seems to be a worthwhile treatment option for HSP, although PDRN does not seem to have an equivalent persistence effects when compared with TA.

Korean Database of Cerebral Palsy: A Report on Characteristics of Cerebral Palsy in South Korea.

OBJECTIVE: To introduce the Korean Database of Cerebral Palsy (KDCP) and to provide the first report on characteristics of subjects with cerebral palsy (CP). METHODS: The KDCP is a nationwide database of subjects with CP, which includes a total of 773 subjects. Characteristics such as demography, birth history, onset and type of CP, brain magnetic resonance imaging (MRI) findings, functional ability and accompanying impairments, were extracted and analyzed. RESULTS: Preterm delivery and low birth weight were found in 59.51% and 60.28% of subjects, respectively. Postnatally acquired CP was 15.3%. The distribution of CP was 87.32%, 5.17%, and 1.81% for spastic, dyskinetic, and ataxic types, respectively. Functional ability was the worst in dyskinetic CP, as compared to other types of CP. Speech-language disorder (43.9%), ophthalmologic impairment (32.9%), and intellectual disability (30.3%) were the three most common accompanying impairments. The number of accompanying impairments was elevated in subjects with preterm birth and low birth weight. Brain MRI showed normal findings, malformations, and non-malformations in 10.62%, 9.56%, and 77.35% of subjects, respectively. Subjects with normal MRI findings had better functional ability than subjects with other MRI findings. MRI findings of a non-malformation origin, such as periventricular leukomalacia, were more common in subjects with preterm birth and low birth weight. CONCLUSION: The KDCP and its first report are introduced in this report, wherein the KDCP established agreement on terminologies of CP. This study added information on the characteristics of subjects with CP in South Korea, which can now be compared to those of other countries and ethnicities.

The Effect of Nebulized Glycopyrrolate on Posterior Drooling in Patients with Brain Injury: Two Cases of Different Brain Lesions.

Posterior drooling, which can lead to substantial respiratory morbidity, including unexplained lung diseases and recurrent pneumonia, is an important issue in the rehabilitation unit. There are various treatment options for posterior drooling, including pharmacologic therapy, oral motor or behavioral therapy, biofeedback, local glandular injection of botulinum toxin, irradiation, and surgery. Among them, nebulized glycopyrrolate has the following advantages: It is noninvasive and is relatively free of central adverse effects because it does not cross the blood-brain barrier unlike other anticholinergics. Although there has been one case report regarding the effectiveness of nebulized glycopyrrolate for drooling in a motor neuron patient, there have not been any reports on its effectiveness for posterior drooling. Herein, we report two cases (an 82-year-old male bilateral hemiplegic stroke patient and a 1-year-old female cerebral palsy infant with bilaterally spastic hemiplegia of posterior drooling treated with nebulized glycopyrrolate) and identify salivary aspiration and the effect of nebulized glycopyrrolate using radionuclide salivagram. Considering its advantages and effectiveness, nebulized glycopyrrolate should be considered as one of the reliable methods to manage posterior drooling in patients with impaired cognition or swallowing difficulties, such as severe brain injury.

The Correlation Between Clinical Characteristics and Radionuclide Salivagram Findings in Patients With Brain Lesions: A Preliminary Study.

OBJECTIVE: To evaluate the correlation between radionuclide salivagram findings and clinical characteristics in dysphagic patients with brain lesions. METHODS: The medical records of 35 dysphagic patients with brain lesions who simultaneously underwent both a videofluoroscopic swallowing study (VFSS) and radionuclide salivagram were analyzed retrospectively. The subjects were divided into two groups according to the presence of aspiration on a salivagram (group A, patients with aspiration on the salivagram; group B, patients with no aspiration on the salivagram). The differences between clinical characteristics and VFSS findings (penetration-aspiration scale [PAS]) between the two groups were analyzed. RESULTS: Eleven out of 35 patients displayed salivary aspiration on the radionuclide salivagram. There were no significant differences between the two groups according to age, sex, disease duration, PAS on VFSS and feeding methods (p≥0.05). The incidence of aspiration pneumonia was significantly higher in group A. In a multivariate logistic regression analysis with forward stepwise method, the Mini-Mental State Examination (MMSE) score was the only significant parameter in predicting positive findings in salivagrams (odds ratio=0.760; 95% confidence interval [CI], 0.625-0.923; p=0.006). The area under the receiver operating characteristic curve (AUC) of the MMSE score for positive detection in salivagrams was 0.855 (95% CI, 0.689-0.953; p<0.0001). The optimal cut-off value was 7 for the MMSE score (sensitivity 72.73%, specificity 100%). CONCLUSION: In patients with brain lesions who complain of dysphagia, the MMSE score was correlated with salivary aspiration. If patients present with a score of 7 or less on the MMSE, performing a radionuclide salivagram may helpful for early detection of patients at high risk of aspiration pneumonia induced from salivary aspiration.

Therapeutic benefit of repetitive transcranial magnetic stimulation for severe mirror movements: A case report.

Congenital mirror movements retard typical hand functions, but no definite therapeutic modality is available to treat such movements. We report an 8-year-old boy with severe mirror movements of both hands. His mirror movements were assessed using the Woods and Teuber grading scale and his fine motor skills were also evaluated by the Purdue Pegboard Test. A 2-week regimen of repetitive transcranial magnetic stimulation produced markedly diminished mirror movement symptoms and increased the fine motor skills of both hands. Two weeks after the completion of the regimen, mirror movement grades had improved from grade 4 to 1 in both hands and the Purdue Pegboard Test results of the right and left hands also improved from 12 to 14 or 13. These improvements were maintained for 1 month after the 2-week repetitive transcranial magnetic stimulation regimen. After 18 months, the mirror movement grade was maintained and the Purdue Pegboard test score had improved to 15 for the right hand while the left hand score was maintained at 13. This occurred without any additional repetitive transcranial magnetic stimulation or other treatment. These findings suggest that repetitive transcranial magnetic stimulation for this patient had a therapeutic and long-term effect on mirror movements.

Effect of botulinum toxin type a on morphology of salivary glands in patients with cerebral palsy.

OBJECTIVE: To investigate the effect of botulinum toxin type A (BTXA) on drooling and the morphologic change of the salivary gland in patients with cerebral palsy. METHOD: Eight cerebral palsy patients suffering from severe drooling participated in this study. BTXA was injected into both submandibular and parotid glands under intravenous sedation and with ultrasound guidance (1 unit/gland/kg: maximum 100 units) in an outpatient or inpatient procedure. The severity of drooling was measured before injection and 3 weeks after injection using the Teacher Drooling Scale, the Drooling Score-severity, frequency and the Visual Analog Scale. To investigate the morphologic change of the salivary glands, the size of salivary glands were measured before injection and 3 weeks after injection using computed tomography of the neck. The measurement values were analyzed by Wilcoxon signed rank test. RESULTS: Statistically significant improvements were shown in all three parameters for assessing the severity of drooling after BTXA injections (p<0.05). Size of the salivary glands were significantly decreased at 3 weeks after BTXA injection (p<0.05). CONCLUSION: Salivary gland injection with BTXA could be a useful treatment method to reduce drooling in patients with cerebral palsy and decreased size of salivary glands may partially explain the mechanism.