Autism spectrum disorders (ASDs) are a group of neurodevelopmental-related disorders with a high genetic risk. Recently, chromatin remodeling factors have been found to be related to ASDs. "SMARCA4" is such a catalytic subunit of the chromatin-remodeling complex. In this report, we identified seven novel missense variants in the…

Individuals living with intellectual disability can have multiple co-occurring medical conditions including associated genetic diagnoses. The number of genetic etiologies associated with ID is growing, with some quite new and rare, and others more common and associated with what is often considered a syndrome. In the context of genetic etiologies…

Purpose: The heterogeneity of autism is well documented, but few studies have studied the heterogeneity of gesture production ability in autistic children. The present study aimed to identify subgroups of autistic children who displayed heterogeneous gesture production abilities and explore the underlying factors, including autism characteristics,…

Prader-Willi Syndrome (PWS) is a rare neurodevelopmental disorder associated with social cognitive challenges, and pretend play has been demonstrated as a tool to achieve developmental goals. Following previous report on feasibility and acceptability of a remote, play-based parent-training program (Zyga, Russ, & Dimitropoulos, 2018), we now…

One of the overriding hopes of the Down syndrome (DS) research community is to arrive at a better understanding of how trisomy 21 affects brain development and function, and that doing so will improve quality of life and independence for people with DS. In searching for the underlying causes of intellectual disability in DS, researchers and…

The present study investigated the role of demographic and personal factors concerning the attitudes toward intellectual disability. Our sample consisted of 482 Romanians aged 18 to 74. We measured the overall attitudes toward intellectual disability, as well as some specific dimensions, i.e., integration or segregation, social distance, private…

We aimed to identify unique constellations of sensory phenotypes for genetic etiologies associated with diagnoses of autism spectrum disorder (ASD) and intellectual disability (ID). Caregivers reported on sensory behaviors via the Sensory Profile for 290 participants (younger than 25 years of age) with ASD and/or ID diagnoses, of which…

The clinical similarity among different neuropsychiatric disorders (NPDs) suggested a shared genetic basis. We catalogued 23,109 coding de novo mutations (DNMs) from 6511 patients with autism spectrum disorder (ASD), 4,293 undiagnosed developmental disorder (UDD), 933 epileptic encephalopathy (EE), 1022 intellectual disability (ID), 1094…

Purpose: Individuals with proximal 16p11.2 copy number variants (CNVs), either deletions (16p11.2DS) or duplications (16p11.2Dup), are predisposed to neurodevelopmental difficulties and disorders, such as language disorders, intellectual disability, and autism spectrum disorder. The purpose of the current study was to characterize language…

This study examined the similarities/differences between the social phenotypes of Williams syndrome (WS) and autism spectrum disorder (ASD). As cultural norms may affect symptom evaluation, this study administered the Social Responsiveness Scale-2 to Japanese individuals with WS (n = 78, 4.4-44.0 years) and ASD (n = 75, 4.7-55.4 years). The scores…

O-GlcNAcylation of serine/threonine residues on target proteins occurs dynamically in postmitotic neurons of the hippocampus and may serve to control both the stability and activity of target proteins. Remarkably, the addition and removal of the O-GlcNAc posttranslational modifications are catalyzed by a pair of enzymes, the O-GlcNAc transferase…

Background: In intellectual disability, the cognitive delay is observed during developmental age, whereas in dementia, cognitive decline occurs during post-developmental period. So far, the risk of dementia in people with intellectual disability, excluding those with Down syndrome, is poorly known. Method: We screened dementia signs in a study…

Storage of long-term memory requires not only protein synthesis but also protein degradation. In this article, we overview recent publications related to this issue, stressing that the balanced actions of protein synthesis and degradation are critical for long-term memory formation. We particularly focused on the brain-derived neurotrophic factor…

Chromosome 15q11q13 is among the least stable regions in the genome due to its highly complex genomic architecture. Low copy repeat elements at 15q13.3 facilitate recurrent copy number variants (CNVs), with deletions established as pathogenic and "CHRNA7" implicated as a candidate gene. However, the pathogenicity of duplications of…

The course of 187 individuals ages 3-21 years with Autistic Disorder was traced through a period of 20 years (enrollment: 1995-1998, follow up: 2014-2019). Specific genetic and environmental causes were identified in only a minority. Intellectual disability coexisted in 84%. Few became independent with 99% living at home with relatives, in…