Chromosomal microarray (CMA) is now recognized as the first-tier genetic test for detection of copy number variations (CNVs) in patients with autism spectrum disorder (ASD). The aims of this study were to identify known and novel ASD associated-CNVs and to evaluate the diagnostic yield of CMA in Thai patients with ASD. The Infinium CytoSNP-850K BeadChip was used to detect CNVs in 114 Thai patients comprised of 68 retrospective ASD patients (group 1) with the use of CMA as a second line test and 46 prospective ASD and developmental delay patients (group 2) with the use of CMA as the first-tier test. We identified 7 (6.1%) pathogenic CNVs and 22 (19.3%) variants of uncertain clinical significance (VOUS). A total of 29 patients with pathogenic CNVs and VOUS were found in 22% (15/68) and 30.4% (14/46) of the patients in groups 1 and 2, respectively. The difference in detected CNV frequencies between the 2 groups was not statistically significant (Chi square = 1.02, df = 1, P = 0.31). In addition, we propose one novel ASD candidate gene, SERINC2, which warrants further investigation. Our findings provide supportive evidence that CMA studies using population-specific reference databases in underrepresented populations are useful for identification of novel candidate genes.

Objective: To identify the genetic etiologies of congenital primary hypothyroidism (CH) in Thai patients. Design and methods: CH patients were enrolled. Clinical characteristics including age, signs and symptoms of CH, pedigree, family history, screened thyroid-stimulating hormone results, thyroid function tests, thyroid imaging, clinical course and treatment of CH were collected. Clinical exome sequencing by next-generation sequencing was performed. In-house gene list which covered 62 potential candidate genes related to CH and thyroid disorders was developed for targeted sequencing. Sanger sequencing was performed to validate the candidate variants. Thyroid function tests were determined in the heterozygous parents who carried the same DUOX2 or DUOXA2 variants as their offsprings. Results: There were 118 patients (63 males) included. Mean (SD) age at enrollment was 12.4 (7.9) years. Forty-five of 118 patients (38%) had disease-causing variants. Of 45 variants, 7 genes were involved (DUOX2, DUOXA2, TG, TPO, SLC5A5, PAX8 and TSHR). DUOX2, a gene causing thyroid dyshormonogenesis, was the most common defective gene (25/45, 56%). The most common DUOX2 variant found in this study was c.1588A>T. TG and TPO variants were less common. Fourteen novel variants were found. Thyroid function tests of most parents with heterozygous state of DUOX2 and DUOXA2 variants were normal. Conclusions: DUOX2 variants were most common among Thai CH patients, while TG and TPO variants were less common. The c.1588A>T in DUOX2 gene was highly frequent in this population.

Newborn screening (NBS) is a public health service that is used to screen for treatable conditions in many countries, including Thailand. Several reports have revealed low levels of parental awareness and knowledge about NBS. Because of limited data on parental perspectives toward NBS in Asia and the differences in socio-cultural and economic contexts between Western and Asian countries, we conducted a study to explore parental perspectives on NBS in Thailand. A Thai questionnaire to assess awareness, knowledge, and attitudes regarding NBS was constructed. The final questionnaire was distributed to pregnant women, with or without their spouses, and to parents of children aged up to one year who visited the study sites in 2022. A total of 717 participants were enrolled. Up to 60% of parents were identified as having good awareness, which was significantly associated with gender, age, and occupation. Only 10% of parents were classified as having good knowledge relative to their education level and occupation. Providing appropriate NBS education should be initiated during antenatal care, focusing on both parents. This study noted a positive attitude toward expanded NBS for treatable inborn metabolic diseases, incurable disorders, and adult-onset diseases. However, modernized NBS should be holistically evaluated by multiple stakeholders in each country because of different socio-cultural and economic contexts.

Juvenile idiopathic arthritis (JIA) is a common rheumatic disease in children and adolescents. Although JIA may cause secondary amyloidosis, this is a rare complication in patients with JIA and other rheumatic diseases. Many previous studies have revealed that common heterozygous or homozygous mutations in the MEFV gene are associated with systemic-onset JIA (SJIA). We herein report a case involving a 19-year-old female patient with difficult-to-control SJIA. She developed progressive proteinuria without clinical signs or symptoms of edema. Renal amyloidosis was diagnosed by renal pathologic examination, which demonstrated deposition of eosinophilic amorphous material in the interlobular arteries, arterioles, and interstitium. Electron microscopy showed fibrillary material deposits with a diameter of 8 to 10 nm. A heterozygous E148Q mutation in the MEFV gene was identified. Conventional disease-modifying anti-rheumatic drugs and etanercept had been used to treat the SJIA, but the disease could not be controlled. Therefore, we decided to start tocilizumab to control the disease activity. However, the patient was unable to receive a standard dose of tocilizumab in the early period of treatment because of socioeconomic limitations. Her disease course was still active, and proteinuria was found. Therefore, tocilizumab was increased to a dose of 8 mg/kg every 2 weeks (standard dose of SJIA), and the patient exhibited a clinical response within 3 months. Refractory SJIA associated with renal amyloidosis is an uncommon cause of proteinuria in adolescents. Tocilizumab may be a beneficial treatment for renal amyloidosis in patients with SJIA.

Background: An accurate and reliable measurement of nutrient intake is the first and foremost step in order to optimise infant nutrition and evaluate its impact on health outcomes. However, research on the validity of dietary assessment tools used during the weaning period is limited, especially in lower-middle income countries. The primary aim of this study was to evaluate relative validity of a 24-h recall method (24-HR) using a 3-day food record (3-DFR). A secondary aim was to investigate association between protein intake from 3-DFR and plasma amino acids as a potential protein biomarker. Methods A multicentre, prospective cohort study was conducted in Chiang Mai, Thailand from June 2018 to May 2019. Food consumption data were collected in healthy infants using 24-HR and 3-DFR at 9 and 12 months of age. Blood samples were obtained at 12 months (M). Plasma amino acids were analysed using high performance liquid chromatography. Results Of 145 infants, 49% were female. At group level, paired t-tests/Wilcoxon signed rank tests did not show significant differences between average nutrient intakes from the 2 dietary assessment methods, except for vitamin A and vitamin C. Weighted kappa (Kw) was acceptable for all nutrients, except for vitamin A intake at 9 M (Kw = 0.15). The Bland–Altman analyses were unbiased for most nutrients with variable limits of agreement. At individual level, correlation coefficients (r) ranged from acceptable to excellent (r = 0.37–0.87) while cross-classifications showed acceptable outcomes, except for vitamin A. Multivariate analyses showed significant associations between protein intake at 12 M from the 3-DFR and plasma concentrations of branched-chain amino acids (BCAA) and essential amino acids (EAA), even after adjusting for gender, milk feeding type and energy intake. Conclusions For infants aged 9–12 M, a 24-HR can be used as a more practical alternative to a 3-DFR for most nutrients although caution is required for some micronutrients, especially vitamin A. A repeated interview might further improve the accuracy. Furthermore, protein intake, particularly animal-based protein, significantly predicted plasma BCAA and EAA concentrations regardless of gender, type of milk feeding and energy consumption.