Isodicentric chromosome 15 [idic(15)] is a rare chromosomal abnormality that occurs due to inverted duplication of chromosome 15q. It is associated with many clinical findings such as early central hypotonia, developmental delay, cognitive dysfunction, autism spectrum disorders, and seizure. Delayed development is a common problem referred to pediatric rehabilitation clinics. A 9-month-old boy with delayed development was referred to our clinic for assessment and treatment. On chromosomal analysis, he was diagnosed as idic(15) syndrome with 47,XY,+idic(15)(q12) on karyotyping. Herein we describe his clinical manifestations and provide a brief review of the related literature.
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To determine reliability and clinical use of two methods of migration index (MI) in CP patients with or without hip dysplasia.
The materials included radiographs of 200 hips of children with cerebral palsy. Conventional anteroposterior radiographs of the pelvis were taken with the child in the supine position with standardized methods. Two rehabilitation doctors measured the migration index using two methods. In the classic method, the lateral margin of the acetabular roof was used as a landmark and in the modified method the lateral margin of the sourcil was used as a landmark. Each rater measured the migration index at three separate times with a time interval of at least one week. Intraclass correlation (ICC) was used to test the inter- and intra-rater reliability.
MI shows excellent intra-rater reliability in both the classic and modified methods, but the inter-rater reliability was higher in the classic method than in the modified method. When categorized according to the sourcil classification, inter-rater reliability was higher in the normal sourcil type and lower in the dysplastic sourcil types.
Generally, the classic method showed higher reliability than the modified method, even though the reliability of the MI measurement was relatively high with both methods.
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To investigate the reliability of inspection-based classification of sagittal gait patterns in children with bilateral spastic cerebral palsy (CP).
Video clip recordings of gait patterns and sagittal kinematic data obtained by a computerized motion analysis system from 91 patients with bilateral spastic CP were reviewed. The abnormal gait patterns were classified into 4 groups using the method described by Rodda et al. Visual observation-based classification (visual classification) was compared with classification by 3D analysis-based methods (3D classification). The reliabilities of visual classifications made by an experienced physician and a trainee physician were analyzed.
The consistency of inspection-based gait classification using kinematic data analysis was demonstrated by an experienced physician (Kappa coefficient (k)=0.67, p<0.001). However, the consistency was low for the trainee physician (k=0.37, p<0.001). Group III (apparent equinus) was commonly confused with group IV (crouch gait) by the trainee physician, resulting in lower agreement for those two evaluation groups than for other patterns. Video observation showed low reliability in comparisons made between the experienced and the trainee physician (k=0.37, p<0.001).
There was substantial agreement of gait classification between video observation and kinematic data analysis by the experienced physician, but not by the trainee physician. Low reliability was also demonstrated for inspection-based gait classification.
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