Objective: The Parents' Evaluation of Developmental Status (PEDS) and the Ages and Stages Questionnaire (ASQ) are developmental screening tools that are commonly used in pediatric practice worldwide. We aimed to compare the screening results of the PEDS and the ASQ in children with a wide range of ages and to evaluate the degree of agreement between the tests across the age groups. Methods: The study was conducted with the participation of 327 children aged 3 to 72 months. Participants were administered the PEDS and then the ASQ. Children with known developmental disabilities were included in the study to represent a real-world clinical practice setting and evaluated with a clinical workup. Results: The median age of the children was 35.1 months, with a range of 3 to 72 months. The percentage of children with known developmental disabilities was 16.5%. The actual agreement between the PEDS and ASQ was 74% with a concordance represented by Cohen k of 0.422 (p < 0.001) in the total sample. Furthermore, the agreement was higher in children aged 25 to 36 months and 37 to 48 months than for the other ages. Conclusion: We compared the clinical features of the ASQ and PEDS across the age groups, and they demonstrated moderate agreement. The present study also showed the performance of the PEDS and suggests that it should certainly be used for developmental screening in routine child health care practice in Eurasia, thus supporting the use of such parent-completed developmental tools that should be encouraged for universal screening.

Objectives Asparagine-dependent glycosylation 11-congenital disorders of glycosylation (ALG11-CDG) is a rare autosomal recessive N-glycosylation defect with multisystem involvement particularly neurological symptoms such as epilepsy and neuromotor developmental delay. Case presentation A 31-month-old male patient admitted to our center with complaints of axial hypotonia, drug-resistant myoclonic seizures, microcephaly and deafness. The electroencephalography (EEG) showed a burst-suppression pattern without hypsarrhythmia. Basal metabolic investigations were unremarkable. Progressive cerebral atrophy, hypomyelination and corpus callosum hypoplasia were striking features in brain MRI images taken during our follow-up. Compound heterozygous mutations of the ALG11 gene were found by whole exome sequencing (WES) analysis. It was determined that the c.476T>C mutation is a novel mutation. CDG type 1 pattern was detected with the examination of carbohydrate-deficient transferrin (CDT) by capillary zone electrophoresis. Conclusions In patients with a possible congenital defect of glycosylation, a screening test such as CDT analysis is suggested. To discover novel mutations in this rare disease group, expanded genetic analysis should be performed.

Objectives Severe vitamin C deficiency, or scurvy, presents as a syndrome of multisystem abnormalities associated with defective collagen synthesis and antioxidative functions. The many clinical features of scurvy lead to frequent misdiagnoses, as they can often point to other diseases, such as vasculitis, venous thrombosis and musculoskeletal disorders. As such, an extensive workup is recommended in cases in which scurvy is suspected. Case presentation A 21-month-old male patient and a 36-month-old female patient presented with difficulty in walking, painful joint movements, irritability, gingival hypertrophy and bleeding. After exhaustive investigations and risky invasive procedures, vitamin C deficiency was diagnosed in both cases, and the symptoms improved dramatically with vitamin C treatment. Conclusions The importance of taking a dietary history in pediatric patients is highly recommended. In cases where scurvy is considered, serum ascorbic acid levels should be checked to confirm the diagnosis prior to conducting invasive tests.