Organophosphate (OP) pesticides can transfer from mother to fetus via the placenta and amniotic fluid and may affect the development of infants. This study aims to evaluate the associations between maternal OP concentrations collected in the 1st–2nd trimester and the 3rd trimester of pregnancy and the infant developmental performance. The Screening Test of the Bayley Scales of Infants and Toddler Development, Third Edition (BSID–III screening test) was used to assess development performance at 2 and 6 months of age. Multiple regression analysis showed a negative correlation between cognitive performance at 2 months and maternal diethylthiophosphate (DETP) levels in the 1st–2nd trimester (β ± SE = −0.012 ± 0.004, p < 0.05). We also found that expressive communication and fine motor performance at 6 months were negatively associated with maternal diethyldithiophosphate (DEDTP) levels in the 3rd trimester (β ± SE = −0.047 ± 0.016, p < 0.05, and β ± SE = −0.044 ± 0.017, p < 0.05, respectively). These results suggest that maternal ethylated OP concentrations at different timing of exposure during pregnancy may influence different aspects of infant developmental performance.

The incidence of succinic semialdehyde dehydrogenase (SSADH) deficiency, an autosomal recessive inherited disorder of GABA degradation, is unknown. Upon a recent diagnosis of a new family of affected fraternal twins from the Punjabi ethnic group of India, case ascertainment from the literature and our database was done to determine the number of confirmed cases along with their geographic distribution. The probands presented with global developmental delay, infantile onset epilepsy, and a persistent neurodevelopmental disorder upon diagnosis at 10 years of age with intellectual disability, expressive aphasia, and behavioral problems most prominent for hyperactivity. Gamma-hydroxybutyric aciduria and homozygous ALDH5A1 c.608C>T; p.Pro203Leu mutations were confirmed. Identification of all available individual cases with clinical details available including geographic or ethnic origin revealed 182 patients from 40 countries, with the largest number of patients reported from the USA (24%), Turkey (10%), China (7%), Saudi Arabia (6%), and Germany (5%). This study provides an accounting of all published cases of confirmed SSADH deficiency and provides data useful in planning further studies of this rare inborn error of metabolism.

Introduction: Diagnosis of emergent intracranial lesions that require emergency treatment either medically or surgically in non-traumatic pediatric headaches is important. Red-flag signs and symptoms are commonly used as justification for neuroimaging; however, evidence on its diagnostic values is limited. The study aims to identify diagnostic values of red-flags and develop a clinical prediction score to help improve the diagnostic yield of neuroimaging. Methods: A retrospective review of 109 pediatric patients from 2006 to 2020 who presented with a non-traumatic headache was conducted. A clinical prediction score from red flags was developed using multivariate logistic regression. Discriminatory ability was examined using the area under the receiver operating characteristic curve. Results: A total of 51 patients were diagnosed with emergent intracranial lesions. Four potential clinical red flag predictors were identified: (1) acute onset (less than 3 months), (2) altered conscious state, (3) focal motor abnormality, and (4) and ocular/pupillary abnormality or squint. A clinical prediction score was developed with good discriminatory properties (0.84). Conclusions: Clinical predictor scores from these four red flags may play an important role in maximizing neuroimaging and proper management for pediatric patients with non-traumatic headaches. Future validation studies are needed and could guide referrals and optimize the use of neuroimaging for these patients.