Noonan syndrome (NS) is a common genetic syndrome associated with gain of function variants in genes in the Ras/MAPK pathway. The phenotype of NS has been well characterized in populations of European descent with less attention given to other groups. In this study, individuals from diverse populations with Noonan syndrome were evaluated clinically and by facial analysis technology. Clinical data and images from 125 individuals with NS were obtained from 20 countries with an average age of 8 years and female composition of 46%. Individuals were grouped into categories of African descent (African), Asian, Latin American and additional/other. Across these different population groups, NS was phenotypically similar with only 2 of 21 clinical elements showing a statistically significant difference. The most common clinical characteristics found in all population groups included widely spaced eyes and low-set ears in 80% or greater of participants, short stature in more than 70%, and pulmonary stenosis in roughly half of study individuals. Using facial analysis technology, we compared 161 Caucasian, African, Asian, and Latin American individuals with NS with 161 gender and age matched controls and found that sensitivity was equal to or greater than 94% for all groups, and specificity was equal to or greater than 90%. In summary, we present consistent clinical findings from global populations with NS and additionally demonstrate how facial analysis technology can support clinicians in making accurate NS diagnoses. This work will assist in earlier detection and in increasing recognition of NS throughout the world.

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Summary This study examined the predictability of child weight status on executive function (EF) and vice versa. We searched PubMed, CINAHL, Web of Science, and EMBASE for longitudinal studies conducted in children and adolescents on October 31, 2021. A pairwise meta‐analysis was performed using a frequentist random‐effects approach. The quality of all included studies was evaluated using Newcastle–Ottawa Scale and GRADE assessments. This study included 18 longitudinal studies (N = 30,101). Overall executive functioning was a significant negative predictor of child weight status (pooled beta coefficient = −0.14; 95% confidence interval [CI] [−0.22 to −0.07]; I2 = 97%). The pooled odds ratio also revealed that high EF children had a significant lower risk for developing overweight/obesity (odds ratio [OR] = 0.72; 95% CI [0.59 to 0.87]; I2 = 72%). Conversely, child weight status was a significant negative predictor of overall executive functioning (pooled beta coefficient = −0.06; 95% CI [−0.12 to −0.01]; I2 = 81%). These results suggest a bidirectional prediction between child weight status and EF. These predictabilities are low but potentially beneficial for implementation in childcare systems.

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