Identification of HGD mutations in an alkaptonuria patient: using the Internet to seek rare diseases

Alkaptonuria (AKU, OMIM: 203500) is a rare autosomal recessive disorder of tyrosine metabolism due to a defect of enzyme activity, homogentisate 1,2-dioxygenase (HGD). The patients with AKU initially presented with dark urine discoloration, and ochronosis and arthritis develop after third decades of life. With advances of Internet resources, web-based health seekers for rare disease are increasing. Here, we report the case of an 18-year-old boy with AKU who visited our center due to dark black urine based on self-diagnosis via web searching of this rare condition. Compound heterozygous mutations in HGD gene, IVS5+3A>C and IVS12+6T>C were identified and both of mutations were detected in his parents. Our case illustrates the utility of publicly available Internet resources for diagnosis of rare disease.

Smart Device Usage-Related Factors are Correlated with Self-Regulation Ability in Early Childhood / 대한소아신경학회지

PURPOSE: To investigate the relationship between the smart devices usage-related factors and self-regulation ability development in early childhood. METHODS: Parental questionnaires of 187 children aged 3–6 years were analyzed. The metrics included smart device usage frequency (times/week, scored as uFreq), smart device usage time (hours/day, scored as uTime), parental scale for appropriate smart device usage level (scored as uLevel), the Korean-developmental screening test (K-DST), and the scale for self-regulation ability in young children (scored as SRS, and including four sub-categories: self-appraisal, self-determination, behavior inhibition, and emotionality). The correlations were analyzed by total age group and by each age. RESULTS: In the total age group analysis, uFreq and uTime were negatively correlated with mean SRS (rs =−0.366, −0.330; P < 0.001) and sub-category SRS (rs =−0.186 to −0.370; P < 0.05). Mean uLevel score was positively correlated with mean SRS (rs =0.406; P < 0.001) and most of the mean sub-category SRS (rs =0.174 to 0.362; P < 0.05). In 3-year-old children, the mean SRS was strongly negatively correlated with uFreq (rs =−0.751; P < 0.001), negatively correlated with uTime (rs =−0.518; P < 0.001), and positively correlated with mean uLevel score (rs =0.533; P=0.013). Such correlations seemed to decrease at the age of 4–6 years. CONCLUSION: Self-regulation ability was significantly correlated with smart device-related factors and was the highest in the 3-year-old children. Encouraging appropriate smart device usage will be helpful for self-regulation development of young children.

The Changes of Smart Device Usage Status in Early Childhood: Comparison of 2015–2016 and 2017 Studies / 대한소아신경학회지

PURPOSE: This study aimed to identify changes in smart device usage trends of young children using two studies conducted in 2015-2016 and 2017 respectively. METHODS: We compared the data of the previous study of 130 children (Group A) and the new study of 162 children (Group B). The children and parents were recruited from kindergartens in Seoul and Guri/Namyangju cities. We used the “Parental questionnaire for smart device usage status.” RESULTS: There were some changes in the smart device usage in young children and parental perception. In the 2017 study, smart device usage time increased during weekends (P < 0.05) and the usage with siblings decreased (P < 0.05). In 2017, the smart device was mostly used when children had to be quiet without disturbing others (36.8%). No significant difference existed in the main purpose of use: watching video clips (79.3% vs 76.6%). Overall control of the usage was still largely exercised by mothers; however, when using applications, mothers still only helped the children on request (51.8% vs 49.7%). Regarding the effect of smart device on children, responses of “not knowing” decreased and “will be negative” and “will be positive” increased (P < 0.05). Additionally, most mothers thought that “Although the smart device is currently unnecessary, it will be needed in future” in 2017 (46.3%). CONCLUSION: Limiting the smart device usage time during the weekends and increasing parental involvements are recommended. Guidelines for smart devices usage in young children are also necessary considering the changes in parental attitudes in recognizing the smart device usage as unavoidable.