Digital citizenship of children and youth with autism: Developing guidelines and strategies for caregivers and clinicians to support healthy use of screens.

LAY ABSTRACT: Children and youth with autism use screens in their daily lives and in their rehabilitation programs. Although parents and clinicians experience specific challenges when supporting positive screen time use of children and youth with autism, no detailed information for this group exists. Therefore, this study aimed to develop clear guidelines that are agreed by expert clinicians and parents of children and youth with autism. Using a method called Delphi, 30 experts-20 clinicians and 10 caregivers, who have experience working with or caring for children and youth with autism were invited to complete a series of three surveys. In each round, the experts had to rate their agreement with statements regarding screen time management. The agreement level was set to 75%. The final themes to be included in the guidelines were accepted by more than 75% of the panel. The final guidelines included six main sections: (1) general principles, (2) considerations for timing and content of leisure screen time use, (3) strategies for caregivers and clinicians to monitor and regulate screen time use, (4) behaviors to monitor for screen time overuse, (5) additional guidelines for clinicians, and (6) resources. The new guidelines developed in this study can provide potential guidance on how to further the development of digital citizenship for children and youth with autism and provide strategies to families to help manage screen time use.

Contribution of Multiple Inherited Variants to Autism Spectrum Disorder (ASD) in a Family with 3 Affected Siblings.

Autism Spectrum Disorder (ASD) is the most common neurodevelopmental disorder in children and shows high heritability. However, how inherited variants contribute to ASD in multiplex families remains unclear. Using whole-genome sequencing (WGS) in a family with three affected children, we identified multiple inherited DNA variants in ASD-associated genes and pathways (RELN, SHANK2, DLG1, SCN10A, KMT2C and ASH1L). All are shared among the three children, except ASH1L, which is only present in the most severely affected child. The compound heterozygous variants in RELN, and the maternally inherited variant in SHANK2, are considered to be major risk factors for ASD in this family. Both genes are involved in neuron activities, including synaptic functions and the GABAergic neurotransmission system, which are highly associated with ASD pathogenesis. DLG1 is also involved in synapse functions, and KMT2C and ASH1L are involved in chromatin organization. Our data suggest that multiple inherited rare variants, each with a subthreshold and/or variable effect, may converge to certain pathways and contribute quantitatively and additively, or alternatively act via a 2nd-hit or multiple-hits to render pathogenicity of ASD in this family. Additionally, this multiple-hits model further supports the quantitative trait hypothesis of a complex genetic, multifactorial etiology for the development of ASDs.