Broadening the clinical spectrum of White-Sutton syndrome, implications for co-morbidity with celiac disease in a patient with a novel likely pathogenic variant in the POGZ gene.

White-Sutton syndrome (WHSUS) is a rare neurodevelopmental disorder caused by heterozygous variants in the POGZ gene. With slightly over 100 reported cases, the diagnosis of WHSUS remains challenging due to its variable and non-specific clinical features. We report a novel case of WHSUS carrying a heterozygous de novo variant in the POGZ gene and with characteristic clinical features including global developmental delay, autism spectrum disorder, generalised myoclonic epilepsy, hypotonia and distinct dysmorphic features.

The use of assistive technology to promote practical skills in persons with autism spectrum disorder and intellectual disabilities: A systematic review.

Persons with autism spectrum disorder (ASD) and/or intellectual disability (ID) have difficulties in planning, organising and coping with change, which impedes the learning of daily living skills (DLSs), social participation and self-management across different environmental settings. Assistive technologies (ATs) is a broad term encompassing devices and services designed to support individuals with disabilities, and if used in a self-controlled manner, they may contribute inclusion in all domains of participation. This comprehensive literature review aims to critically assess and unify existing research that investigates the use of assistive technology within the practical domain for individuals with ASD and/or ID.

Delayed Diagnosis of Congenital Duodenal Stenosis in a 16-Year-Old Girl.

Background: Duodenal atresia or stenosis are different degrees of the same abnormality. They usually occur at the level of the ampulla of Vater and are thought to be an embryologic defect during the development of the foregut, leading to abnormal recanalization. Complete duodenal atresia is usually symptomatic in the early neonatal period, while partial obstruction (web, stenosis) may have a late presentation and a more challenging diagnosis such as in our case.