Brief Report: A Preliminary Study of the Relationship between Repetitive Behaviors and Concurrent Executive Function Demands in Children with Autism Spectrum Disorder.

The present study evaluated the hypothesis that the strength of the relationship between executive function (EF) and repetitive behaviors and restricted interests (RBRI) symptomatology is moderated by the degree to which concurrent demands are placed on multiple aspects of EF. An eye movement task was used to evaluate inhibition and task switching ability (both together and in isolation) in a sample of 22 children with autism spectrum disorder (ASD). The Repetitive Behavior Scale-Revised (RBS-R) was used to assess the severity of RBRI symptoms.

A longitudinal study of pupillary light reflex in 6- to 24-month children.

Pupillary light reflex (PLR) is an involuntary response where the pupil size changes with luminance. Studies have shown that PLR response was altered in children with autism spectrum disorders (ASDs) and other neurological disorders. However, PLR in infants and toddlers is still understudied.

Catatonia in Down syndrome: systematic approach to diagnosis, treatment and outcome assessment based on a case series of seven patients.

Objective: The goal is to expand our knowledge of catatonia occurring in adolescents and young adults with Down syndrome (DS) by describing the first prospective, consecutive, well-characterized cohort of seven young people with DS diagnosed with catatonia and treated between 2013 and 2018, and to assess each patient's treatment responses. Longitudinal assessment of each patient's response to treatment is intended to provide clinicians and psychiatrists a firm foundation from which assess treatment efficacy.

Study Design: Young adults with Down syndrome were consecutively enrolled in the study as they were diagnosed with catatonia.

Heritable genotype contrast mining reveals novel gene associations specific to autism subgroups.

Though the genetic etiology of autism is complex, our understanding can be improved by identifying genes and gene-gene interactions that contribute to the development of specific autism subtypes. Identifying such gene groupings will allow individuals to be diagnosed and treated according to their precise characteristics. To this end, we developed a method to associate gene combinations with groups with shared autism traits, targeting genetic elements that distinguish patient populations with opposing phenotypes.

Atypical pupillary light reflex in 2-6-year-old children with autism spectrum disorders.

The purpose of this study was to investigate pupillary light reflex (PLR) in 2-6-years-old children with autism spectrum disorders (ASD). A total of 117 medication-free 2-6-year-old boys participated in this study. Sixty participants were diagnosed with ASD (the "ASD group") and the other 57 were in the control group of typical development (the "TD group").

ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons.

Miles-Carpenter syndrome (MCS) was described in 1991 as an XLID syndrome with fingertip arches and contractures and mapped to proximal Xq. Patients had microcephaly, short stature, mild spasticity, thoracic scoliosis, hyperextendable MCP joints, rocker-bottom feet, hyperextended elbows and knees. A mutation, p.

Catatonia in Down syndrome; a treatable cause of regression.

Objective: The main aim of this case series report is to alert physicians to the occurrence of catatonia in Down syndrome (DS). A second aim is to stimulate the study of regression in DS and of catatonia. A subset of individuals with DS is noted to experience unexplained regression in behavior, mood, activities of daily living, motor activities, and intellectual functioning during adolescence or young adulthood.

rPLR: an imaging system for measuring pupillary light reflex at a distance.

Pupillary light reflex (PLR) is a simple noninvasive neurological test that can reveal a great amount of information of the neural system. We report here a novel imaging system for measuring PLR without using any restraints to limit the subject's movement. Our system incorporates a tracking component that can locate the subject's eye position and redirect the pupillary imaging component to follow the subject's movement.

Facial structure analysis separates autism spectrum disorders into meaningful clinical subgroups.

Varied cluster analysis were applied to facial surface measurements from 62 prepubertal boys with essential autism to determine whether facial morphology constitutes viable biomarker for delineation of discrete Autism Spectrum Disorders (ASD) subgroups. Earlier study indicated utility of facial morphology for autism subgrouping (Aldridge et al. in Mol Autism 2(1):15, 2011).

CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors.

Truncating mutations of chromodomain helicase DNA-binding protein 8 (CHD8), and of many other genes with diverse functions, are strong-effect risk factors for autism spectrum disorder (ASD), suggesting multiple mechanisms of pathogenesis. We explored the transcriptional networks that CHD8 regulates in neural progenitor cells (NPCs) by reducing its expression and then integrating transcriptome sequencing (RNA sequencing) with genome-wide CHD8 binding (ChIP sequencing). Suppressing CHD8 to levels comparable with the loss of a single allele caused altered expression of 1,756 genes, 64.

19q13.32 microdeletion syndrome: three new cases.

A previous report described a unique phenotype associated with an apparently de novo 732 kb 19q13.32 microdeletion, consisting of intellectual disability, facial asymmetry, ptosis, oculomotor abnormalities, orofacial clefts, cardiac defects, scoliosis and chronic constipation. We report three unrelated patients with developmental delay and dysmorphic features, who were all found to have interstitial 19q13.

Investigation of NRXN1 deletions: clinical and molecular characterization.

Deletions at 2p16.3 involving exons of NRXN1 are associated with susceptibility for autism and schizophrenia, and similar deletions have been identified in individuals with developmental delay and dysmorphic features. We have identified 34 probands with exonic NRXN1 deletions following referral for clinical microarray-based comparative genomic hybridization.

Age-dependent pupillary light reflex parameters in children.

Pupillary light reflex (PLR) refers to the phenomenon where pupil size changes in response to stimulation with a flash of light. It is a simple functional test that can reveal dysfunctions associated with the PLR pathway. Although abnormal PLR responses have been reported in many neurological disorders, few studies investigated neurodevelopmental effects on PLR parameters.

Atypical pupillary light reflex and heart rate variability in children with autism spectrum disorder.

We investigated pupillary light reflex (PLR) in 152 children with ASD, 116 typically developing (TD) children, and 36 children with non-ASD neurodevelopmental disorders (NDDs). Heart rate variability (HRV) was measured simultaneously to study potential impairments in the autonomic nervous system (ANS) associated with ASD. The results showed that the ASD group had significantly longer PLR latency, reduced relative constriction amplitude, and shorter constriction/redilation time than those of the TD group.

Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.

Balanced chromosomal abnormalities (BCAs) represent a relatively untapped reservoir of single-gene disruptions in neurodevelopmental disorders (NDDs). We sequenced BCAs in patients with autism or related NDDs, revealing disruption of 33 loci in four general categories: (1) genes previously associated with abnormal neurodevelopment (e.g.

A multisite study of the clinical diagnosis of different autism spectrum disorders.

Context: Best-estimate clinical diagnoses of specific autism spectrum disorders (autistic disorder, pervasive developmental disorder-not otherwise specified, and Asperger syndrome) have been used as the diagnostic gold standard, even when information from standardized instruments is available.

Objective: To determine whether the relationships between behavioral phenotypes and clinical diagnoses of different autism spectrum disorders vary across 12 university-based sites.

Design: Multisite observational study collecting clinical phenotype data (diagnostic, developmental, and demographic) for genetic research.

Facial phenotypes in subgroups of prepubertal boys with autism spectrum disorders are correlated with clinical phenotypes.

Background: The brain develops in concert and in coordination with the developing facial tissues, with each influencing the development of the other and sharing genetic signaling pathways. Autism spectrum disorders (ASDs) result from alterations in the embryological brain, suggesting that the development of the faces of children with ASD may result in subtle facial differences compared to typically developing children. In this study, we tested two hypotheses.

Evidence for selective inhibitory impairment in individuals with autism spectrum disorder.

Objective: The social and communicative challenges faced by individuals with autism spectrum disorder (ASD) are often compounded by additional difficulties with executive function. It remains unclear, however, to what the extent individuals with ASD experienced impairment in inhibitory control. The objective of the present study was to assess the three main subtypes of executive inhibitory control within a single ASD sample thus providing new insight into the unique ASD-related pattern of sparing and impairment observed across different aspects of inhibitory control.

Autism spectrum disorders--a genetics review.

Autism is an etiologically and clinically heterogeneous group of disorders, diagnosed solely by the complex behavioral phenotype. On the basis of the high-heritability index, geneticists are confident that autism will be the first behavioral disorder for which the genetic basis can be well established. Although it was initially assumed that major genome-wide and candidate gene association studies would lead most directly to common autism genes, progress has been slow.

Detecting corpus callosum abnormalities in autism based on anatomical landmarks.

Autism is a severe developmental disorder whose neurological basis is largely unknown. The aim of this study was to identify the shape differences of the corpus callosum between patients with autism and control subjects. Anatomical landmarks were collected from midsagittal magnetic resonance images of 25 patients and 18 controls.

Abnormal transient pupillary light reflex in individuals with autism spectrum disorders.

Computerized binocular infrared pupillography was used to measure the transient pupillary light reflex (PLR) in both children with autism spectrum disorders (ASDs) and children with typical development. We found that participants with ASDs showed significantly longer PLR latency, smaller constriction amplitude and lower constriction velocity than children with typical development. The PLR latency alone can be used to discriminate the ASD group from the control group with a cross-validated success rate of 89.

Weak gender effects on transient pupillary light reflex.

We investigated the gender effects on transient pupillary light reflex (PLR) in healthy young adults between 18 and 22 years old. Both dark-adapted and light-adapted PLRs were measured using green and red stimuli of different intensities. The results indicate that females had significantly larger relative constriction amplitudes than males in a dark-adapted condition.

Sex-specific lateralization of contraction anisocoria in transient pupillary light reflex.

Purpose: Contraction anisocoria describes a phenomenon in which the pupil of a directly illuminated eye constricts more than the pupil of the consensual (not illuminated) eye. The purpose of this study was to investigate the lateralization of contraction anisocoria in young female and male subjects.

Methods: Infrared binocular pupillography was used to measure pupillary light reflex (PLR) in 44 healthy children (23 girls, 21 boys) from 6 to 16 years of age.