RESUMEN
Multidimensional scaling (MDS) was used as an alternate multivariate procedure for investigating intelligence and academic achievement test score correlations. Correlation coefficients among Wechsler Intelligence Scale for Children, Fifth Edition (WISC-5) and Wechsler Individual Achievement Test, Third Edition (WIAT-III) validity sample scores and among Kaufman Assessment Battery for Children, Second Edition (KABC-II) and Kaufman Test of Educational Achievement, Second Edition (KTEA-2) co-norming sample scores were analyzed using multidimensional scaling (MDS). Three-dimensional MDS configurations were the best fit for interpretation in both datasets. Subtests were more clearly organized by CHC ability and academic domain instead of complexity. Auditory-linguistic, figural-visual, reading-writing, and quantitative-numeric regions were visible in all models. Results were mostly similar across different grade levels. Additional analysis with WISC-V and WIAT-III tests showed that content (verbal, numeric, figural) and response process facets (verbal, manual, paper-pencil) were also useful in explaining test locations. Two implications from this study are that caution may be needed when interpreting fluency scores across academic areas, and MDS provides more empirically based validity evidence regarding content and response mode processes.
RESUMEN
BACKGROUND: Myoclonus-dystonia (M-D) is a movement disorder with autosomal dominant inheritance and reduced penetrance but may also occur sporadically. Recently, mutations in the epsilon-sarcoglycan gene (SGCE) were shown to cause M-D. Furthermore, single variants in the dopamine D2 receptor (DRD2) and DYT1 genes were found in combination with SGCE mutations in two M-D families, and another M-D locus was recently mapped to chromosome 18p11 in one family. METHODS: The authors clinically and genetically characterised ten consecutive cases with myoclonus-dystonia; seven familial and three sporadic. Twenty nine M-D patients and 40 unaffected family members underwent a standardised clinical examination by a movement disorder specialist. Index cases were screened for mutations in the SGCE, DYT1, and DRD2 genes and for deletions of the SGCE gene. Suitable mutation negative families were tested for linkage to the SGCE region and to chromosome 18p11. RESULTS: Two SGCE mutations were detected among the seven familial but no mutation in the sporadic cases. Haplotype analysis at the new M-D locus was compatible with linkage in two families and excluded in another family, suggesting at least one additional M-D gene. There were no obvious clinical differences between M-D families with and without detected mutations. CONCLUSION: M-D is genetically heterogeneous with SGCE mutations accounting for the disease in only part of the clinically typical cases.