Search results for "Autism spectrum"

Masculinization in Parents of Offspring With Autism Spectrum Disorders Could Be Involved in Comorbid ADHD Symptoms

2017

OBJECTIVE: People with autism spectrum disorders (ASD) often have comorbid ADHD symptoms. ASD and ADHD are both associated with high intrauterine testosterone (T) levels. This study aims to investigate whether masculinization predicts inattention symptoms in parents, and in their ASD-affected offspring.METHOD: The sample consisted of 32 parents with ASD-affected children (13 male, 19 female) and 32 offspring individuals (28 male, 4 female). Masculinization of parents was measured by 2D:4D finger ratio, and current T levels. Inattention in both parents and in their offspring was measured with behavior questionnaires.RESULTS: The results indicated that masculinized 2D:4D explains inattentive …

Array-CGH defined chromosome 1p duplication in a patient with autism spectrum disorder, mild mental deficiency, and minor dysmorphic features

2010

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

2021

Contains fulltext : 231688.pdf (Publisher’s version ) (Closed access) PURPOSE: Pathogenic variants in the X-linked gene NEXMIF (previously KIAA2022) are associated with intellectual disability (ID), autism spectrum disorder, and epilepsy. We aimed to delineate the female and male phenotypic spectrum of NEXMIF encephalopathy. METHODS: Through an international collaboration, we analyzed the phenotypes and genotypes of 87 patients with NEXMIF encephalopathy. RESULTS: Sixty-three females and 24 males (46 new patients) with NEXMIF encephalopathy were studied, with 30 novel variants. Phenotypic features included developmental delay/ID in 86/87 (99%), seizures in 71/86 (83%) and multiple comorbidi…

Comparison of nutritional status between children with autism spectrum disorder and typically developing children in the Mediterranean Region (Valenc…

2016

This case-control study investigated nutrient intake, healthy eating index with 10 items on foods and nutrients, on 3-day food diaries and anthropometric measurements in 105 children with autism spectrum disorder and 495 typically developing children (6–9 years) in Valencia (Spain). Children with autism spectrum disorder were at a higher risk for underweight, eating more legumes, vegetables, fiber, and some micronutrients (traditional Mediterranean diet) but fewer dairy and cereal products, and less iodine, sodium, and calcium than their typically developing peers. Differences existed in total energy intake but healthy eating index and food variety score differences were not significant. A…

ADHD symptoms and learning behaviors in children with ASD without intellectual disability. A mediation analysis of executive functions

2018

In spite of its importance for education, the relationship between learning behaviors (LB), attention deficit hyperactivity disorder symptoms (ADHD) and executive functioning (EF) in children with autism spectrum disorder (ASD) has hardly been explored. The first objective of the present study was to compare children with ASD without intellectual disability and children with typical development (TD) on ADHD symptoms and learning behaviors: Motivation/ competence, attitude toward learning, persistence on the task, and strategy/flexibility. The second objective was to analyze the mediator role of behavioral regulation and metacognition components of EF between ADHD symptoms and learning behav…

Disruption of the ASTN2 / TRIM32 locus at 9q33.1 is a risk factor in males for Autism Spectrum Disorders, ADHD and other neurodevelopmental phenotypes

2014

Rare copy number variants (CNVs) disrupting ASTN2 or both ASTN2 and TRIM32 have been reported at 9q33.1 by genome-wide studies in a few individuals with neurodevelopmental disorders (NDDs). The vertebrate-specific astrotactins, ASTN2 and its paralog ASTN1, have key roles in glial-guided neuronal migration during brain development. To determine the prevalence of astrotactin mutations and delineate their associated phenotypic spectrum, we screened ASTN2/TRIM32 and ASTN1 (1q25.2) for exonic CNVs in clinical microarray data from 89 985 individuals across 10 sites, including 64 114 NDD subjects. In this clinical dataset, we identified 46 deletions and 12 duplications affecting ASTN2. Deletions o…

Comparison of Foveal, Macular, and Peripapillary Intraretinal Thicknesses Between Autism Spectrum Disorder and Neurotypical Subjects

2017

Purpose To compare thicknesses of intraretinal layers segmented by spectral-domain optical coherence tomography (SD-OCT) between autism spectrum disorder (ASD) and neurotypical (NT) individuals. Methods We performed 2 scans on 108 eyes from 54 participants (27 high-functioning ASD and 27 age- and sex-matched NT subjects): macular fast volume and peripapillary retinal nerve fiber layer (pRNFL). Macula was automatically segmented. The mean foveal and macular thickness of nine different layers and the thickness of nine pRNFL sectors were considered. Data from the right and left eyes were averaged for each participant. The results were compared between the ASD and NT groups. Associations betwee…

Fat intake in children with autism spectrum disorder in the Mediterranean region (Valencia, Spain)

2015

Children with autism spectrum disorder (ASD) have been found to have alterations in dietary fat intake and fat quality. The fat intakes of the foods consumed by children with and without ASD were compared, and the deficiency and excess of these nutrients were examined.In a matched case-control study, 3-day food diaries were completed by 105 children with ASD and 495 typically developing (TD) 6- to 9-year-old children in Valencia (Spain). We used the probabilistic approach and estimated average requirement cut-point to evaluate the risk of inadequate nutrients intakes. These were compared between groups and with Spanish recommendations using linear and logistic regression, respectively.Group…

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.

2019

AMPA receptors (AMPARs) are tetrameric ligand-gated channels made up of combinations of GluA1-4 subunits encoded by GRIA1-4 genes. GluA2 has an especially important role because, following post-transcriptional editing at the Q607 site, it renders heteromultimeric AMPARs Ca2+-impermeable, with a linear relationship between current and trans-membrane voltage. Here, we report heterozygous de novo GRIA2 mutations in 28 unrelated patients with intellectual disability (ID) and neurodevelopmental abnormalities including autism spectrum disorder (ASD), Rett syndrome-like features, and seizures or developmental epileptic encephalopathy (DEE). In functional expression studies, mutations lead to a dec…

Children with autism and attention deficit hyperactivity disorder. Relationships between symptoms and executive function, theory of mind, and behavio…

2018

Abstract Background The underlying mechanisms of comorbidity between autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) are still unknown. Executive function (EF) deficits and theory of mind (ToM) have been the most investigated cognitive processes. Aims This study proposed to analyze EF, ToM and behavioral problems in children with ASD + ADHD, ADHD, ASD and typical development (TD). The relationship between ADHD and ASD symptoms with EF, ToM and behavioral problems in children with ASD + ADHD was also explored. Methods and procedures Participants were 124 children between 7 and 11 years old (22 ASD + ADHD, 35 ADHD, 30 ASD, and 37 TD), matched on age and IQ. …