An integrated clinical approach to children at genetic risk for neurodevelopmental and psychiatric conditions: interdisciplinary collaboration and research infrastructure.

Background: A sizeable proportion of pathogenic genetic variants identified in young children tested for congenital differences are associated with neurodevelopmental psychiatric disorders (NPD). In this growing group, a genetic diagnosis often precedes the emergence of diagnosable developmental concerns. Here, we describe DAGSY (Developmental Assessment of Genetically Susceptible Youth), a novel interdisciplinary 'genetic-diagnosis-first' clinic integrating psychiatric, psychological and genetic expertise, and report our first observations and feedback from families and referring clinicians.

Global developmental delay and a de novo deletion of the 16p13.13 region.

Many rare genetic variants are associated with the risk of atypical neurodevelopmental trajectories. In this study, we report a patient with developmental delay, autistic traits and multiple congenital anomalies, including congenital heart anomalies and orofacial cleft, with a 0.832 Mb de novo deletion of the 16p13.

Sleep phenotype of individuals with autism spectrum disorder bearing mutations in the PER2 circadian rhythm gene.

The Per family of genes functions as a primary circadian rhythm maintenance in the brain. Mutations in PER2 are associated with familial advanced sleep-phase syndrome 1 (FASPS1), and recently suggested in delayed sleep phase syndrome and idiopathic hypersomnia. The detection of PER2 variants in individuals with autism spectrum disorder (ASD) and without reported sleep disorders, has suggested a role of circadian-relevant genes in the pathophysiology of ASD.

Supporting Children With Neurodevelopmental Disorders During the COVID-19 Pandemic.

Families of children with neurodevelopmental disorders are especially vulnerable during the COVID-19 pandemic. Physical distancing requirements and closure of schools and services in the context of the COVID-19 pandemic are likely challenging to everyone but may be particularly impactful for families with children with neurodevelopmental disorders ([NDDs], eg, intellectual disability, attention-deficit/hyperactivity disorder [ADHD], autism spectrum disorder [ASD]). Although a small number of children may experience less stress or anxiety due to reduced social and academic expectations, for many children with NDDs, and particularly those with ASD, carefully developed behavioral and environmental supports, and consistent and predictable routines and expectations, are vital for their mental well-being.