SummaryObjectiveVitamin B6–dependent epilepsies are treatable disorders caused by variants in several genes, such as ALDH7A1,PNPO, and others. Recently, biallelic variants in PLPBP, formerly known as PROSC, were identified as a novel cause of vitamin B6–dependent epilepsies. Our objective was to further delineate the phenotype of PLPBP mutation.MethodsWe identified 4 unrelated patients harboring a total of 4 variants in PLPBP, including 3 novel variants, in a cohort of 700 patients with developmental and epileptic encephalopathies. Clinical information in each case was collected.ResultsEach patient had a different clinical course of epilepsy, with seizure onset from the first day of life to 3 months of age. Generalized tonic–clonic seizures were commonly noted. Myoclonic seizures or focal seizures were also observed in 2 patients. Interictal electroencephalography showed variable findings, such as suppression burst, focal or multifocal discharges, and diffuse slow activity. Unlike previous reports, all the patients had some degree of intellectual disability, although some of them had received early treatment with vitamin B6, suggesting that different mutation types influence the severity and outcome of the seizures.Significance PLPBP variants should be regarded as among the causative genes of developmental and epileptic encephalopathy, even when it occurs after the neonatal period. Early diagnosis and proper treatment with pyridoxine or pyridoxal phosphate is essential to improve the neurologic prognosis in neonates or young children with poorly controlled seizures.

No abstract

Congenital humeroradial synostosis can occur as an isolated clinical entity or as part of a syndrome. Bilateral elbow fixed flexion deformity is very incapacitating and challenging to treat. Here we present the case of a boy with fixed flexion deformity of both elbows due bilateral humeroradial synostosis. Other characteristic features of multiple synostoses syndrome were also present in this child, his elder brother and mother. We elected to improve the position of the right elbow by adapting the modified French osteotomy described by Bellemore et al .

Background: Children with autism spectrum disorder (ASD) are susceptible to excessive electronic screen media (ESM) use. This study aimed to evaluate the effectiveness of a parent training programme in improving the screen time and social functioning of children with ASD. Methods: This pre-/post-test quasi-experimental study involved parents by providing them with structured education based on the American Academy of Pediatrics (AAP)’ screen time recommendations. In total, 259 children with ASD aged 3 years old–12 years old were eligible. Of those children, 26 were excluded due to comorbidities or taking medications. Additionally, 28 parents participated. Children’s screen time were recorded, and social behaviour was scored using the Social Responsiveness Scale pre- and post-intervention. Results: There were significant reductions in the average daily screen time of children with ASD after their parents attended the training programme (-51.25 min; 95% CI: -78.40, -24.10). In subgroups with reduced screen time, the treatment effect of the intervention was significant in improving the social responsiveness total score (-3.09; 95% CI: -5.96, -0.22), the social communication scale (-3.64; 95% CI: -5.91, -1.36) and the restricted interest and repetitive behaviour (RRB) scale (-5.27; 95% CI: -10.29, -0.25). Conclusion: Parental training is effective in reducing screen time and improving social functioning in children with ASD.