Shin-Young Yim

Comparison of Helmet Therapy and Counter Positioning for Deformational Plagiocephaly

Objective To compare effectiveness on correcting cranial and ear asymmetry between helmet therapy and counter positioning for deformational plagiocephaly (DP). Methods Retrospective data of children diagnosed with DP who visited our clinic from November 2010 to October 2012 were reviewed. Subjects ≤10 months of age who showed ≥10 mm of diagonal difference were included for analysis. For DP treatment, information on both helmet therapy and counter positioning was given and either of the two was chosen by each family. Head circumference, cranial asymmetry measurements including diagonal difference, cranial vault asymmetry index, radial symmetry index, and ear shift were obtained by 3-dimensional head-surface laser scan at the time of initiation and termination of therapy. Results Twenty-seven subjects were included: 21 had helmet therapy and 6 underwent counter positioning. There was no significant difference of baseline characteristics, head circumferences and cranial asymmetry measurements at the initiation of therapy. The mean duration of therapy was 4.30±1.27 months in the helmet therapy group and 4.08±0.95 months in the counter positioning group (p=0.770). While cranial asymmetry measurements improved in both groups, significantly more improvement was observed with helmet therapy. There was no significant difference of the head circumference growth between the two groups at the end of therapy. Conclusion Helmet therapy resulted in more favorable outcomes in correcting cranial and ear asymmetry than counter positioning on moderate to severe DP without compromising head growth.

Is craniofacial asymmetry progressive in untreated congenital muscular torticollis

Background: Although craniofacial asymmetry is frequently involved in patients with congenital muscular torticollis, it has not been evaluated appropriately. The authors analyzed preoperative craniofacial asymmetry objectively and confirmed the relationship between craniofacial asymmetry and aging in congenital muscular torticollis patients who underwent surgical release. Methods: The authors retrospectively measured preoperative craniofacial asymmetry using the Cranial Vault Asymmetry Index and intercommissural angle and reviewed preoperative rotational and flexional deficit of neck movement for 123 congenital muscular torticollis patients who underwent surgical release at Ajou Medical Center from February of 2007 to February of 2011. The relationships among Cranial Vault Asymmetry Index, intercommissural angle, rotational deficit, flexional deficit, and age were analyzed. Mean values of dependent variables were compared after patients were grouped by age. Results: Mean age at operation was 82.5 months (range, 5 to 498 months). Seventy-one percent (n = 87) of patients had a significant cranial asymmetry and 87 percent (n = 107) had a significant facial asymmetry. In correlation analysis, intercommissural angle increased proportional to age (r = 0.334, p = 0.000), especially before 3 years (r = 0.42, p = 0.001). Cranial Vault Asymmetry Index was unrelated to age or rotational or flexional deficit. Rotational deficit decreased proportional to age (r = −0.229, p = 0.032). By analysis of variance test, intercommissural angle and rotational deficit between the age groups were statistically significantly different (p < 0.05). Conclusions: In congenital muscular torticollis, facial asymmetry is progressive if the contracted sternocleidomastoid muscle is not released, although cranial asymmetry is already determined in those younger than 6 months. Early correction of torticollis should be considered to prevent progression of facial asymmetry in congenital muscular torticollis patients. CLINICAL QUESTION /LEVEL OF EVIDENCE: Risk, III.

Integrative analysis of congenital muscular torticollis: from gene expression to clinical significance

BackgroundCongenital muscular torticollis (CMT) is characterized by thickening and/or tightness of the unilateral sternocleidomastoid muscle (SCM), ending up with torticollis. Our aim was to identify differentially expressed genes (DEGs) and novel protein interaction network modules of CMT, and to discover the relationship between gene expressions and clinical severity of CMT.ResultsTwenty-eight sternocleidomastoid muscles (SCMs) from 23 subjects with CMT and 5 SCMs without CMT were allocated for microarray, MRI, or imunohistochemical studies. We first identified 269 genes as the DEGs in CMT. Gene ontology enrichment analysis revealed that the main function of the DEGs is for extracellular region part during developmental processes. Five CMT-related protein network modules were identified, which showed that the important pathway is fibrosis related with collagen and elastin fibrillogenesis with an evidence of DNA repair mechanism. Interestingly, the expression levels of the 8 DEGs called CMT signature genes whose mRNA expression was double-confirmed by quantitative real time PCR showed good correlation with the severity of CMT which was measured with the pre-operational MRI images (R2 ranging from 0.82 to 0.21). Moreover, the protein expressions of ELN, ASPN and CHD3 which were identified from the CMT-related protein network modules demonstrated the differential expression between the CMT and normal SCM.ConclusionsWe here provided an integrative analysis of CMT from gene expression to clinical significance, which showed good correlation with clinical severity of CMT. Furthermore, the CMT-related protein network modules were identified, which provided more in-depth understanding of pathophysiology of CMT.

Comparison of clinical severity of congenital muscular torticollis based on the method of child birth.

Objective To compare the clinical severity of congenital muscular torticollis (CMT) based on the method of child birth. Method Children diagnosed with CMT and who were < 6-years-of-age at the time of their first visit at the Center for Torticollis, Ajou Medical Center, were included in this study. The medical records were retrospectively reviewed with reference to the method of child birth and the clinical severity of CMT. The clinical severity of CMT was determined either by whether stretching exercises were needed for the children <6-month-of-age or whether surgical release was required for the children ≥6-months-of-age at the time of the first visit. Results One hundred seventy eight subjects with CMT were enrolled. There was no significant difference in the rate of surgical release according to the method of child birth. For 132 patients <6-month-of-age there was also no significant difference in the rate of stretching exercises. Conclusion There was no significant difference in the clinical severity of CMT based on the method of child birth. This finding suggests that prenatal factors alone could be a cause of CMT and that the clinical severity of CMT in children delivered by Cesarean section is not different when compared with the severity of CMT in children born through vaginal delivery.

Quality of marital life in Korean patients with spondyloarthropathy.

The objectives of this study were to assess the quality of marital life (QML) in patients with spondyloarthropathy (SpA) in Korea and to identify possible gender differences in QML in patients with SpA. This was a case–control study at the outpatient unit of a tertiary care medical centre. Subjects were the patient group, composed of 47 married patients with SpA, and a comparison group composed of 47 healthy married adults with similar demographic characteristics. QML was measured using the Marital Satisfaction Inventory, Revised. As a result, QML was similar for both the male patients and the healthy men. However, the female patients had higher scores on the global distress scale (59.8 ± 6.3 vs. 53.8 ± 5.6, #E5/E5#=0.021) and the aggression scale (50.5 ± 7.9 vs. 44.3 ± 5.4, #E5/E5#=0.016) than the female comparison group. At the same time, the female patients demonstrated higher scores on the global distress scale (59.8 ± 6.3 vs. 54.7 ± 7.2, #E5/E5#=0.035) than the male patients. In conclusion, QML in Korean males with SpA was not greatly different from that of the male comparison group. However, QML in the female patients was characterised by higher global distress and a higher probability of aggression from their partner, but no significant sexual dissatisfaction.

Clinical and cytogenetic features of a Potocki–Lupski syndrome with the shortest 0.25 Mb microduplication in 17p11.2 including RAI1

Potocki-Lupski syndrome (PTLS [MIM 610883]) is a recently recognized microduplication syndrome associated with 17p11.2. It is characterized by mild facial dysmorphic features, hypermetropia, infantile hypotonia, failure to thrive, mental retardation, autistic spectrum disorders, behavioral abnormalities, sleep apnea, and cardiovascular anomalies. In several studies, the critical PTLS region was deduced to be 1.3Mb in length, and included RAI1 and 17 other genes. We report a 3-year-old Korean boy with the smallest duplication in 17p11.2 and a milder phenotype. He had no family history of neurologic disease or developmental delay and no history of seizure, autistic features, or behavior problems. He showed subtle facial dysmorphic features (dolichocephaly and a mildly asymmetric smile) and flat feet. All laboratory tests were normal and he had no evidence of internal organ anomalies. He was found to have mild intellectual disabilities (full scale IQ 65 on K-WPPSI) and language developmental delay (age of 2.2year-old on PRESS). Array comparative genomic hybridization (CGH) showed about a 0.25Mb microduplication on chromosome 17p11.2 containing four Refseq (NCBI reference sequence) genes, including RAI1 [arr 17p11.2(17,575,978-17,824,623)×3]. When compared with previously reported cases, the milder phenotype of our patient may be associated with the smallest duplication in 17p11.2, 0.25Mb in length.

Magnetic Resonance Imaging as a Determinant for Surgical Release of Congenital Muscular Torticollis: Correlation with the Histopathologic Findings

Objective (1) To present the magnetic resonance imaging (MRI) findings of congenital muscular torticollis (CMT) of subjects who underwent surgical release and subjects who showed a good prognosis with stretching exercises and (2) to correlate the MRI findings with the histopathologic findings of CMT for subjects who underwent surgical release in order to examine the hypothesis that the MRI findings of CMT can be used as a determinant to perform surgical release of CMT. Method The neck MRI findings of 33 subjects who underwent surgical release for CMT were compared with those of 18 subjects who were successfully managed only with conservative management. The MRI findings were correlated with the histopathologic sections of the CMT mass. Results All 33 subjects (100%) who underwent surgical release showed one or more low signal intensities within the involved sternocleidomastoid muscle (SCM) on the T1- and T2-weighted images of neck MRI. The eighteen non-surgical candidates showed only enlargement of the SCM without low signal intensity within the SCM. The histopathologic findings showed interstitial fibrosis and/or the presence of aberrant tendon-like excessive dense connective tissue that was either well-arranged or disorganized. Conclusion The histopathologic findings and MRI findings showed good correlation in terms of the amount of fibrosis and aberrant dense connective tissue within the SCM. If multiple or large low signal intensities within the SCM are noted, we think that surgical release should be considered.

Reciprocal deletion and duplication of 17p11.2-11.2: Korean patients with Smith-Magenis syndrome and Potocki-Lupski syndrome.

Deletion and duplication of the -3.7-Mb region in 17p11.2 result in two reciprocal syndrome, Smith-Magenis syndrome and Potocki-Lupski syndrome. Smith-Magenis syndrome is a well-known developmental disorder. Potocki-Lupski syndrome has recently been recognized as a microduplication syndrome that is a reciprocal disease of Smith-Magenis syndrome. In this paper, we report on the clinical and cytogenetic features of two Korean patients with Smith-Magenis syndrome and Potocki-Lupski syndrome. Patient 1 (Smith-Magenis syndrome) was a 2.9-yr-old boy who showed mild dysmorphic features, aggressive behavioral problems, and developmental delay. Patient 2 (Potocki-Lupski syndrome), a 17-yr-old boy, had only intellectual disabilities and language developmental delay. We used array comparative genomic hybridization (array CGH) and found a 2.6 Mb-sized deletion and a reciprocal 2.1 Mb-sized duplication involving the 17p11.2. These regions overlapped in a 2.1 Mb size containing 11 common genes, including RAI1 and SREBF.

The laryngeal cough reflex in congenital muscular torticollis: is it a new finding?

Yim S-Y, Lee IY, Cho KH, Kim JK, Lee IJ, Park M-C: The laryngeal cough reflex in congenital muscular torticollis: Is it a new finding? Cinical experience has shown us that some infants with congenital muscular torticollis have a cough reflex while stretching the sternocleidomastoid muscle. The objective of this study is to present a case series with the maneuver inducing the cough reflex and facial color change and to provide the possible mechanism underlying this phenomenon. This is a case series from a prospective cohort. Among 290 children with congenital muscular torticollis who came to a single torticollis clinic from January to December 2008, the children who showed cough reflex were consecutively enrolled. Twenty-four infants (8.28%) showed the cough reflex. The age of first presentation with congenital muscular torticollis was 37.65 ± 19.60 days old. They showed 57.5 ± 7.3° of the passive cervical rotation to the congenital muscular torticollis side at the initial visit. The mean thickness of the sternocleidomastoid muscle in those with cough reflex was 13.79 ± 1.96 mm at the side of congenital muscular torticollis and 5.43 ± 0.85 mm on the contralateral side. The cough reflex disappeared, and 90° of passive cervical rotation to the congenital muscular torticollis side were regained with stretching exercises and/or surgical release in all 24 children. One of the possible mechanisms for this cough reflex is surmised to be the mechanical irritation of the internal branch of the superior laryngeal nerve during the maneuver, which is one of the branches of the vagus nerve and is responsible for the sensation of the mucous membrane of the larynx. 8.28% of the infants with congenital muscular torticollis showed positive sign of cough reflex and had at least double or more thickness of the sternocleidomastoid muscle compared with that of unaffected sternocleidomastoid muscle and, at the same time, had 60° or less of passive cervical rotation toward the affected side. To the best of our literature review, this laryngeal cough reflex is a new finding that has never been described before. One of the possible mechanisms for this cough reflex is surmised to be the mechanical irritation of the internal branch of the superior laryngeal nerve during the maneuver, which is one of the branches of the vagus nerve, acting as the afferent nerve of laryngeal cough reflex.

Craniofacial Asymmetry in Adults With Neglected Congenital Muscular Torticollis

Objective To evaluate the craniofacial asymmetry in adults with neglected congenital muscular torticollis (CMT) by quantitative assessment based on craniofacial three-dimensional computed tomography (3D-CT). Methods Preoperative craniofacial asymmetry was measured by 3D-CT for 31 CMT subjects ≥18 years of age who visited a tertiary medical center and underwent 3D-CT between January 2009 and December 2013. The relationship between the age and the severity of craniofacial asymmetry was analyzed in reference to anteroposterior length asymmetry of the frontal bone and zygomatic arch, vertical and lateral displacements of the facial landmarks, and mandibular axis rotation. Results The age at CT was 27.71±7.02 years (range, 18-44 years). All intra-class correlation coefficients were higher than 0.7, suggesting good inter-rater reliability (p<0.05) of all the measurements. The frontal and the zygomatic length ratio (i.e., the anteroposterior length asymmetry on the axial plane) was 1.06±0.03 and 1.07±0.03, respectively, which was increased significantly with age in the linear regression analysis (r2=0.176, p=0.019 and r2=0.188, p=0.015, respectively). The vertical or lateral displacement of the facial landmarks and rotation of the mandibular axis did not significantly correlate with age (p>0.05). Conclusion Craniofacial asymmetry of neglected CMT became more severe with age in terms of anteroposterior length asymmetry of the ipsilateral frontal bone and zygomatic arch on the axial plane even after growth cessation. This finding may enhance the understanding of therapeutic strategies for craniofacial asymmetry in adults with neglected CMT.