Development and validation of the Visual Function Battery for Children with Special Needs.

AIM: To develop and validate the Visual Function Battery for Children with Special Needs (VFB-CSN). METHOD: This was a scale development and validation study with (1) construct and item generation and (2) evaluations of interrater reliability, acceptability, and content, ecological, and convergent validities. RESULTS: Children with special needs were recruited for the reliability (n = 32) and validity (n = 95) investigations. The construct and items were generated based on literature review and an expert panel. We constructed eight categories, namely visual reflex, ocular muscle balance, visual acuity, oculomotor, visual field, contrast sensitivity, colour/form vision, and visual attention. Both functional assessment and standardized tests were adopted. The reliabilities were high for the whole VFB-CSN (intraclass correlation coefficient [ICC] = 0.90, 95% confidence interval [CI] = 0.80-0.90) and good for the oculomotor, contrast sensitivity, and colour/form vision (ICC = 0.80-0.86, 95% CI = 0.50-0.93). Correlations between the VFB-CSN and the Functional Vision Questionnaire were strong and acceptable for the contrast sensitivity, acuity, and colour/form vision (r = 0.79, r = 0.69, r = 0.69, r = 0.70 respectively). The correlation between the VFB-CSN and standardized visual acuity test was acceptable (r = -0.72). INTERPRETATION: The VFB-CSN is a reliable and valid multifaceted battery for children with special needs. Acceptable psychometric properties were also found for the acuity and contrast sensitivity. WHAT THIS PAPER ADDS: The Visual Function Battery for Children with Special Needs (VFB-CSN) can measure several types of visual function. The VFB-CSN also measures varying degrees of visual impairment in children with special needs. The VFB-CSN provides functional assessment and quantitative measurement for children with disability and difficulty in cooperating on standardized tests.

The SNP rs560426 Within ABCA4-ARHGAP29 Locus and the Risk of Nonsyndromic Oral Clefts.

OBJECTIVE: Nonsyndromic oral clefts are common birth defect with complex etiology. In the present study, we attempt to further validate the possible role for ABCA4 and ARHGAP29 in the susceptibility to nonsyndromic oral clefts. DESIGN: We performed allelic transmission disequilibrium test analysis, on 10 eligible single nucleotide polymorphisms (SNPs) and SNP haplotypes using the Family-Based Association Test. PARTICIPANTS: The study sample consisted of 334 case-parent trios of nonsyndromic oral clefts from Taiwanese population, separated into nonsyndromic cleft lip with or without cleft palate (NSCL/P) and nonsyndromic cleft palate only (NSCPO) groups. RESULTS: We found only the SNP rs560426 within the ABCA4 gene showed strong association with NSCPO (P = .03498; Permuted P = .05382). No association between other 9 selected SNPs in ABCA4-ARHGAP29 region and the risk of nonsyndromic oral clefts was found. For the haplotype analyses, we found only haplotype T-C (rs570926 and rs3789431) in ABCA4 block 2 showed significant association with nonsyndromic NSCL/P in these Taiwanese trios. CONCLUSIONS: We used a family-based analysis in 334 Taiwanese case-parent trios to validate the possible role for ABCA4 and ARHGAP29 in the susceptibility to nonsyndromic oral clefts. This study provides a new evidence for an association between the intron variant rs560426 within ABCA4 and nonsyndromic cleft palate which may contribute their regulatory role in craniofacial development.

Association Studies Between Regulatory Regions of IRF6/TP63 Genes and Nonsyndromic Oral Clefts.

OBJECTIVE: To evaluate genetic variants within the regulatory regions of interferon regulatory factor 6 (IRF6) and TP63 for the etiology of nonsyndromic oral clefts risk factors. DESIGN: We performed allelic transmission disequilibrium test analysis on 5 eligible single-nucleotide polymorphisms (SNPs) and SNP haplotypes using the Family-Based Association Test. PARTICIPANTS: The study sample consisted of 334 case-parent trios of nonsyndromic oral clefts from Taiwanese population, separated into nonsyndromic cleft lip/palate (NSCL/P) and nonsyndromic cleft palate only (NSCPO) groups. RESULTS: We found all 3 selected SNPs of the IRF6 gene show significant association with nonsyndromic oral clefts (rs2235371, P = 5.10E-07; rs642961, P = .00194; and rs77542756, P = 9.08E-07). Haplotype analyses identified 3 possible SNP combination haplotypes in the IRF6 gene and found that C-G-G showed significant undertransmission (P = .058), whereas 2 other haplotypes, T-G-A and C-A-G (P = 2.71E-06 and P = 5.00E-04, respectively), were significantly overtransmitted to the NSCL/P children but not to the NSCPO children. For the TP63 gene, we failed to detect evidence of nonsyndromic oral cleft association in the 2 SNPs within the TP63 large intron 1 region. CONCLUSIONS: We used a family-based analysis in 334 Taiwanese case-parent trios to evaluate selected SNPs of IRF6 genes and TP63 genes for a risk of orofacial clefting. This study provides additional evidence for an association between IRF6 and NSCL/P, including the genetic variants within the 5'-noncoding region of the gene. We also confirmed that NSCL/P and NSCPO individuals belong to different groups. For the TP63, our data did not favor the direct involvement of TAp63 isoforms during orofacial development.