Natural language processing and expert follow-up establishes tachycardia association with CDKL5 deficiency disorder.

Purpose: CDKL5 deficiency disorder (CDD) is a developmental and epileptic encephalopathy with multisystemic comorbidities. Cardiovascular involvement in CDD was shown in animal models but is yet poorly described in CDD cohorts.

Methods: We identified 38 individuals with genetically confirmed CDD through the Cleveland Clinic CDD specialty clinic and matched 190 individuals with non-genetic epilepsy to them as a comparison group.

Contrasting Views of Autism Spectrum Traits in Adults, Especially in Self-Reports vs. Informant-Reports for Women High in Autism Spectrum Traits.

There is uncertainty among researchers and clinicians about how to best measure autism spectrum dimensional traits in adults. In a sample of adults with high levels of autism spectrum traits and without intellectual disability (probands, n = 103) and their family members (n = 96), we sought to compare self vs. informant reports of autism spectrum-related traits and possible effects of sex on discrepancies.

Investigating the relationships between resilience, autism-related quantitative traits, and mental health outcomes among adults during the COVID-19 pandemic.

Resilience is a dynamic process through which people adjust to adversity and buffer anxiety and depression. The COVID-19 global pandemic has introduced a shared source of adversity for people across the world, with detrimental implications for mental health. Despite the pronounced vulnerability of autistic adults to anxiety and depression during the COVID-19 pandemic, relationships among autism-related quantitative traits, resilience, and mental health outcomes have not been examined.

The relationship between autism spectrum and sleep-wake traits.

Autistic children and adults often have sleep disturbances, which may affect their and their family's quality of life. Yet, the relationship between sleep-wake patterns and autism spectrum traits is understudied. Identifying such relationships could lead to future research elucidating common mechanistic underpinnings.

Heritability of quantitative autism spectrum traits in adults: A family-based study.

Autism spectrum disorder (ASD) comprises a multi-dimensional set of quantitative behavioral traits expressed along a continuum in autistic and neurotypical individuals. ASD diagnosis-a dichotomous trait-is known to be highly heritable and has been used as the phenotype for most ASD genetic studies. But less is known about the heritability of autism spectrum quantitative traits, especially in adults, an important prerequisite for gene discovery.

Implicit and Explicit Attitudes Toward Autistic Adults.

Background: Research examining attitudes toward autistic adults has relied on explicit self-report measures, which may be susceptible to socially desirable responding. Because implicit attitudes predict behavioral rejection, understanding both implicit and explicit attitudes toward autistic adults is important. Furthermore, previous research has almost exclusively examined attitudes toward autistic children and has not investigated attitudes toward autistic adults who may also experience prejudice from their peers.

The Role of Synaptic Cell Adhesion Molecules and Associated Scaffolding Proteins in Social Affiliative Behaviors.

Social affiliative behaviors-engagement in positive (i.e., nonaggressive) social approach and reciprocal social interactions with a conspecific-comprise a construct within the National Institute of Mental Health Research Domain Criteria Social Processes Domain.