Experiences with offering pro bono medical genetics services in the West Indies: Benefits to patients, physicians, and the community.

We describe our experiences with organizing pro bono medical genetics and neurology outreach programs on several different resource-limited islands in the West Indies. Due to geographic isolation, small population sizes, and socioeconomic disparities, most Caribbean islands lack medical services for managing, diagnosing, and counseling individuals with genetic disorders. From 2015 to 2019, we organized 2-3 clinics per year on various islands in the Caribbean.

Developmental Predictors of Cognitive and Adaptive Outcomes in Genetic Subtypes of Autism Spectrum Disorder.

Approximately one-fourth of autism spectrum disorder (ASD) cases are associated with a disruptive genetic variant. Many of these ASD genotypes have been described previously, and are characterized by unique constellations of medical, psychiatric, developmental, and behavioral features. Development of precision medicine care for affected individuals has been challenging due to the phenotypic heterogeneity that exists even within each genetic subtype.

Co-occurring medical conditions among individuals with ASD-associated disruptive mutations.

Children with autism spectrum disorder (ASD) are at risk for co-occurring medical conditions, many of which have also been reported among individuals with mutations in ASD-associated genes. This study examined rates of co-occurring medical conditions across 301 individuals with disruptive mutations to 1 of 18 ASD-risk genes in comparison to rates of conditions in an idiopathic ASD sample. Rates of gastrointestinal problems, seizures, physical anomalies, and immune problems were generally elevated, with significant differences in rates observed between groups.

Clinical Phenotypes of Carriers of Mutations in CHD8 or Its Conserved Target Genes.

Background: Variants disruptive to CHD8 (which codes for the protein CHD8 [chromodomain-helicase-DNA-binding protein 8]) are among the most common mutations revealed by exome sequencing in autism spectrum disorder (ASD). Recent work has indicated that CHD8 plays a role in the regulation of other ASD-risk genes. However, it is unclear whether a possible shared genetic ontology extends to the phenotype.

Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes.

Purpose: To maximize the discovery of potentially pathogenic variants to better understand the diagnostic utility of genome sequencing (GS) and to assess how the presence of multiple risk events might affect the phenotypic severity in autism spectrum disorders (ASD).

Methods: GS was applied to 180 simplex and multiplex ASD families (578 individuals, 213 patients) with exome sequencing and array comparative genomic hybridization further applied to a subset for validation and cross-platform comparisons.

Results: We found that 40.

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.

N-alpha-acetylation is a common co-translational protein modification that is essential for normal cell function in humans. We previously identified the genetic basis of an X-linked infantile lethal Mendelian disorder involving a c.109T>C (p.

Integrated Cognitive Behavioral Therapy for Comorbid Cannabis Use and Anxiety Disorders.

Cannabis use disorders (CUDs) co-occur with anxiety disorders at high rates, presumably because some individuals with anxiety disorders may rely on cannabis to manage anxiety. Motivation enhancement therapy (MET) combined with cognitive-behavioral therapy (CBT) is an efficacious intervention for CUD, yet outcomes are worse for patients with elevated anxiety. The integration of MET-CBT with (FSET) may be useful with anxious CUD patients, as the use of cannabis to manage anxiety can be targeted as a false safety behavior.

Autism spectrum disorder severity as a predictor of Battelle Developmental Inventory - second edition (BDI-2) scores in toddlers.

Objective: The study aimed to evaluate the relationship between the severity of autism spectrum disorder (ASD) symptomology and scores on the Battelle Developmental Inventory, Second Edition (BDI-2) in toddlers (n = 325).

Methods: Total scores on the BDI-2 and individual domain scores were examined to explore the relationship between severity of ASD and developmental quotient, impairment in personal-social skills, adaptive functioning, cognition, and communication.

Results: Regression analyses controlled for the impact of age and IQ on results, indicating that higher autism severity scores were associated with overall greater impairment and in the total scores and the individual domains of the BDI-2.

RETRACTED: Food selectivity in children with and without an autism spectrum disorder: investigation of diagnosis and age.

This article has been retracted: please see Elsevier Policy on Article Withdrawal (http://www.elsevier.com/locate/withdrawalpolicy).

Comorbid psychopathology rates in children diagnosed with autism spectrum disorders according to the DSM-IV-TR and the proposed DSM-5.

Objective: To investigate differences in comorbid psychopathology rates between individuals who meet criteria of Autism Spectrum Disorders (ASDs) according to DSM-5 or the DSM-IV-TR.

Methods: Comorbid psychopathology was measured using the Autism Spectrum Disorders- Comorbid for Children. 424 individuals between the ages of 2 and 18 years of age; including children who met criteria for an ASD according to the DSM-5, the DSM-IV-TR only, and a control group that did not meet either set of criteria.

Comparing challenging behavior in children diagnosed with autism spectrum disorders according to the DSM-IV-TR and the proposed DSM-5.

Objective: The aim of the current study is to investigate challenging behavior in children who may no longer meet criteria for an autism spectrum disorder (ASD) diagnosis according to the proposed fifth edition of the Diagnostic and Statistical Manual (DSM-5).

Method: Children and adolescents (n = 459) were separated into three groups including those who met criteria for ASD according to the DSM-5 criteria (n = 219); those who will no longer qualify for an ASD diagnosis according to the DSM-5 but met criteria according to the DSM-IV-TR (n = 109); and a control group (n = 131). Scores on the Autism Spectrum Disorders - Problem Behaviors for Children (ASD-PB-C) were compared among groups.

The effects of developmental quotient and diagnostic criteria on challenging behaviors in toddlers with developmental disabilities.

Previous research has found that individuals with intellectual disability and/or autism spectrum disorder (ASD), and those with greater symptom severity within these diagnoses, show higher rates of aggressive/destructive behavior, stereotypic behavior, and self-injurious behavior. In this exploratory cross-sectional study, toddlers at-risk for a developmental disorder (n=1509) ranging from 17 to 36 months fell into one of three diagnostic categories: Autistic Disorder, Pervasive Developmental Disorder-Not Otherwise Specified [PDD-NOS], and atypically developing - no ASD diagnosis. Mental health professionals from EarlySteps, Louisiana's Early Intervention System, interviewed parents and guardians using the Baby and Infant Screen for Children with aUtIsm Traits (BISCUIT) -Part 3 (Matson, Boisjoli, & Wilkins, 2007) to obtain measures of challenging behaviors and the Battelle Developmental Inventory, 2nd Edition (BDI-2) (Newborg, 2005) to obtain developmental quotients (DQ).

Comorbidity of physical and motor problems in children with autism.

Autism and the related pervasive developmental disorders are a heavily researched group of neurodevelopmental conditions. In addition to core symptoms, there are a number of other physical and motor conditions that co-occur at high rates. This paper provides a review of factors and behaviors that correlate highly with disorders on the autism spectrum.