A Nine-Month-Old Boy With Isodicentric Chromosome 15: A Case Report

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.

Relation among the Gross Motor Function, Manual Performance and Upper Limb Functional Measures in Children with Spastic Cerebral Palsy

PURPOSE: The objective of this study was to describe hand function in relation with gross motor function and subtype of spastic cerebral palsy and to investigate the relationships among gross motor function, bimanual performance, unimanual capacity and upper limb functional measures in children with spastic cerebral palsy (CP). MATERIALS AND METHODS: We collected upper extremity data of 140 children with spastic CP. The Gross Motor Functional Classification System (GMFCS) was used to assess gross motor function, Manual Ability Classification System (MACS) for bimanual performance, and Modified House Functional Classification (MHC) for the best capacity of each hand. Upper limb functions were evaluated by using the Upper Limb Physician's Rating Scale and Upper Extremity Rating Scale. RESULTS: There was a good correlation between GMFCS and MACS in children with bilateral CP, but the correlation was not strong in children with unilateral CP. No significant difference between GMFCS and MACS was found in children with bilateral CP, but children with unilateral CP scored higher on GMFCS than on MACS. A strong correlation was observed between MACS and MHC in children with bilateral CP, but not in children with unilateral CP. The upper limb functional measures in each hand were highly related with MACS and MHC in bilateral CP, but not in unilateral CP. CONCLUSION: Gross motor function, bimanual performance and the best capacity of each hand are closely related with each other in children with bilateral CP, but not in children with unilateral CP.