Key roles of C2/GAP domains in SYNGAP1-related pathophysiology.

Mutations in SYNGAP1 are a common genetic cause of intellectual disability (ID) and a risk factor for autism. SYNGAP1 encodes a synaptic GTPase-activating protein (GAP) that has both signaling and scaffolding roles. Most pathogenic variants of SYNGAP1 are predicted to result in haploinsufficiency.

The Behavioral Profile of SYNGAP1-Related Intellectual Disability.

This study aimed to describe the behavioral profile of individuals with SYNGAP1-ID. Parents/carers of 30 individuals aged 3-18 years old with a diagnosis of SYNGAP1-ID and 21 typically developing individuals completed the Vineland-3 Adaptive Behavior Scale and the Child Behavior Checklist. We found that those with SYNGAP1-ID showed fewer adaptive behaviors and higher levels of internalizing and externalizing behaviors across almost all domains compared to typically developing controls.

Profiling Autism and Attention Deficit Hyperactivity Disorder Traits in Children with SYNGAP1-Related Intellectual Disability.

SYNGAP1-related ID is a genetic condition characterised by global developmental delay and epilepsy. Individuals with SYNGAP1-related ID also commonly show differences in attention and social communication/interaction and frequently receive additional diagnoses of Autism Spectrum Disorder (ASD) or Attention Deficit Hyperactivity Disorder (ADHD). We thus set out to quantify ASD and ADHD symptoms in children with this syndrome.

Survey of fertility counselling provision in UK licensed treatment centres during the first phase of the COVID-19 pandemic.

A survey of UK fertility counsellors' experiences of the impact on their service, including its availability, during the first phase of the COVID-19 pandemic in the spring of 2020 received 64 responses. Fifty three respondents had continued to provide a service. Forty now worked from a wholly/substantially different location to normal but many clinics provided no practical support for this ( = 17), or remote access to relevant clinic ( = 17) or client information ( = 12) and twenty five respondents reported reduced multi-disciplinary involvement.

The cardiovascular safety of the empirical measurement of the seizure threshold in electroconvulsive therapy.

Aims and method The Royal College of Psychiatrists' Committee on Electroconvulsive Therapy (ECT) and Related Treatments advises the measurement of initial seizure threshold in all patients undergoing ECT if possible. The subconvulsive electrical stimulation inherent in this process is thought to increase the risk of bradycardia and therefore asystole. Our aim was to establish the prevalence of asystole (no heart beat for 5 or more seconds) during empirical measurement of seizure threshold in patients who had not received anticholinergic drugs, as we were unable to find any published reports of bradycardia or asystole prevalence under these conditions.