Craniofacial Microsomia, Associated Congenital Anomalies, and Risk Factors in 63 Cases from the Alberta Congenital Anomalies Surveillance System.

OBJECTIVE: To report associated congenital anomalies with unexplained craniofacial microsomia (CFM) and the phenotypic overlap with other recurrent constellations of embryonic malformations (RCEM), and to assess prenatal and perinatal risk factors. STUDY DESIGN: This is a retrospective cross-sectional study. Cases with CFM, delivered between January 1, 1997, and December 31, 2019, were abstracted from the population-based Alberta Congenital Anomalies Surveillance System. Livebirths, stillbirths, and early fetal losses were reviewed to include all types of pregnancy outcomes along the spectrum of this condition. Prenatal and perinatal risk factors were compared with the Alberta birth population to assess differences between the 2 groups. RESULTS: There were 63 cases with CFM, yielding a frequency of 1 per 16 949. There was a high rate of cases (65%) with anomalies outside the craniofacial and vertebral regions. Congenital heart defects were the most common (33.3%). A single umbilical artery was found in 12.7% of cases. The twin/triplet rate of 12.7% was significantly higher than the Alberta rate of 3.3% (P < .0001). There was an overlap with a second RCEM condition in 9.5% of cases. CONCLUSIONS: Although CFM is primarily a craniofacial condition, the majority of cases have congenital anomalies affecting other systems requiring additional assessments, including an echocardiogram, renal ultrasound examination, and a complete vertebral radiograph. The high rate of an associated single umbilical artery raises the possibility of a related etiological mechanism. Our findings support the proposed concept of RCEM conditions.

Common white matter microstructure alterations in pediatric motor and attention disorders.

OBJECTIVE: To characterize white matter alterations in children with isolated or concurrent developmental coordination disorder and/or attention-deficit/hyperactivity disorder (ADHD) compared with typically-developing controls, and to determine whether group differences on motor and attention tasks could be explained by differences in diffusion tensor imaging (DTI) measures. STUDY DESIGN: In a cohort of children (n = 85) with developmental coordination disorder, ADHD, or combined developmental coordination disorder+ADHD, we examined 3 major white matter tracts involved in attention and motor processes. Using DTI, the corpus callosum, superior longitudinal fasciculus, and cingulum were analyzed with respect to measures of white matter integrity. Differences in fractional anisotropy (FA), mean diffusivity, radial diffusivity, and axial diffusivity were analyzed using ANOVA. Motor and attentional functioning was assessed using standardized tests, and correlated to DTI measures. RESULTS: FA reductions were noted in the frontal regions of the corpus callosum for children with ADHD (P = .039), whereas children with developmental coordination disorder displayed similar reductions in regions of the corpus callosum underlying parietal brain regions (P = .040), as well as the left superior longitudinal fasciculus (P = .026). White matter integrity was impacted in both frontal and parietal regions for children with comorbid developmental coordination disorder+ADHD (P = .029; .046). FA was positively correlated with scores on both motor and attentional assessments in a region-specific manner. CONCLUSION: Our findings suggest that alterations in the corpus callosum underlie difficulties in motor and attention functioning. These changes are functionally and regionally distinct and could reflect a neurobiological basis for motor and attention disorders in children.