Characterizing executive functioning and associated behaviors in individuals with dual-specificity tyrosine phosphorylation-regulated kinase 1A () syndrome.

Introduction: , a protein kinase located on human chromosome 21, plays a role in postembryonic neuronal development and degeneration. Alterations to have been consistently associated with cognitive functioning and neurodevelopmental disorders (e.g.

Predicting Intervention Use in Youth with Rare Variants in Autism-Associated Genes.

Specialized multidisciplinary supports are important for long-term outcomes for autistic youth. Although family and child factors predict service utilization in autism, little is known with respect to youth with rare, autism-associated genetic variants, who frequently have increased psychiatric, developmental, and behavioral needs. We investigate the impact of family factors on service utilization to determine whether caregiver (autistic features, education, income) and child (autistic features, sex, age, IQ, co-occurring conditions) factors predicted service type (e.

Shared and divergent mental health characteristics of ADNP-, CHD8- and DYRK1A-related neurodevelopmental conditions.

Background: Neurodevelopmental conditions such as intellectual disability (ID) and autism spectrum disorder (ASD) can stem from a broad array of inherited and de novo genetic differences, with marked physiological and behavioral impacts. We currently know little about the psychiatric phenotypes of rare genetic variants associated with ASD, despite heightened risk of psychiatric concerns in ASD more broadly. Understanding behavioral features of these variants can identify shared versus specific phenotypes across gene groups, facilitate mechanistic models, and provide prognostic insights to inform clinical practice.

Detection of a novel gross deletion in the UNC13D gene ends the diagnostic odyssey for a family with familial hemophagocytic lymphohistiocytosis 3.

Background: Familial hemophagocytic lymphohistiocytosis (FHL) is an immunological disorder characterized by overactivation of macrophages and T lymphocytes. This autosomal recessive condition has been characterized into multiple types depending on the genetic etiology. FHL type 3 is associated with bi-allelic pathogenic variants in the UNC13D gene.

Rhythmic attentional sampling in autism.

Individuals diagnosed with autism often display alterations in visual spatial attention toward visual stimuli, but the underlying cause of these differences remains unclear. Recent evidence has demonstrated that covert spatial attention, rather than remaining constant at a cued location, samples stimuli rhythmically at a frequency of 4-8 Hz (theta). Here we tested whether rhythmic sampling of attention is altered in autism.

Sex Differences on the ADOS-2.

The sex difference in the prevalence of autism spectrum disorder (ASD) may be magnified by sex differences on diagnostic measures. The current study compared autistic males and females on items on the gold-standard diagnostic measure, the Autism Diagnostic Observation Schedule, Second Edition (ADOS-2). In a sample of 8-to-17-year old autistic individuals from research (n = 229) and clinical settings (n = 238), females were less likely to show atypicalities on most items related to social-communication behaviors and on total and subscale scores.

Examining Feasibility and Outcomes of the PEERS® for Preschoolers Program.

Social impairments characteristic of autism spectrum disorder (ASD) are evident in early childhood and often worsen. There is a paucity of evidence-based interventions explicitly targeting social skill development for young children with ASD and few actively integrate caregivers. The PEERS® program, an evidence-based caregiver-assisted social skills program, was extended for young children with ASD (i.

An Initial Pilot Study Examining Child Social Skills, Caregiver Styles, and Family Functioning in the PEERS® for Preschoolers Program for Young Autistic Children and their Caregivers.

Background: Social impairments characteristic of autism spectrum disorder (ASD) are evident in early childhood and worsen as the child matures. Though many interventions for young children exist, few specifically target social skills and involve caregivers.

Aims: This pilot study examined PEERS® for Preschoolers, focusing on temporal change in child social skills, caregiver style, and family functioning in the context of a caregiver-assisted social skills intervention.

Feasibility of Group Parent Training for Children with Autism Spectrum Disorder and Disruptive Behavior: A Demonstration Pilot.

Delivery of interventions in a group format is a potential solution to limited access to specialized services for children with autism spectrum disorder (ASD). We conducted an open feasibility trial of group-based RUBI parent training in 18 children (mean age 6.12 ± 1.

A Meta-analytic Review of the Five Minute Speech Sample as a Measure of Family Emotional Climate for Youth: Relations with Internalizing and Externalizing Symptomatology.

The Five Minute Speech Sample's (FMSS) measure of parental expressed emotion (EE), defined as criticism (CRIT) and emotional overinvolvement (EOI), has been increasingly used to measure family emotional climate in relation to youth psychopathological development. As CRIT and EOI were defined based on adults, a meta-analysis and systematic review was conducted to analyze the presence and strength of an effect among maternal CRIT and EOI with youth internalizing and externalizing problems. A random effects model was used to analyze the 42 studies on families of youth (aged 1.

A Multidisciplinary Educational Approach for Children With Chronic Illness: An Intervention Case Study.

Chronic illness requires frequent medical treatments and lifestyle restrictions that increase academic and socioemotional stressors for families. This paper presents academic intervention recommendations based on a hospital's approach to improving educational outcomes for children with chronic illness. A case study on an intervention for a girl with sickle cell disease (SCD) and a history of stroke.

All in the Family: A Systematic Review of the Effect of Caregiver-Administered Autism Spectrum Disorder Interventions on Family Functioning and Relationships.

A number of intervention models aimed at addressing Autism Spectrum Disorder (ASD)-related behaviors require caregivers to perform intensive and oftentimes extended protocols (Bearss et al. in Clin Child Fam Psychol Rev 18(2):170-182, 2015). Though a number of research findings describe how characteristics of the child with ASD affect the mental health and stress experienced by caregivers and family members (Davis and Carter in J Autism Dev Disord 38(7):1278-1291, 2008; Tomanik et al.

The Association of the Broader Autism Phenotype with Emotion-Related Behaviors in Mothers of Children With and Without Autism Spectrum Traits.

Broader autism phenotype (BAP) characteristics (pragmatic language deficits, aloofness, and rigidity) are prevalent in families of individuals with autism spectrum disorder (ASD) and may influence emotion-related behaviors. The current study analyzed associations among BAP characteristics with emotion-related behaviors in mothers of children with and without ASD. Twenty-seven mothers completed BAP and emotion regulation (ER) questionnaires.