Search results for "Autistic disorder"

Substance-use disorder in high-functioning autism: clinical and neurocognitive insights from two case reports.

2014

Background Low prevalence of substance-use disorder has been reported in adults with autism. However, on a superficial level, adults with high-functioning autism (HFA) display a ‘normal’ façade when they drink alcohol, which may explain why their alcohol dependency is not better diagnosed. Case presentation Here, we report two cases of HFA adults who use alcohol and psychostimulants to cope with their anxiety and improve their cognitive abilities and social skills. We analyze how neurocognitive traits associated with HFA may be potential triggers for substance-use disorder. Conclusion Better identification of autism and its cognitive impairments, which may be vulnerability traits for develo…

Additional evidence to support the role of the 20q13.33 region in susceptibility to autism

2012

Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment

2019

VAMP2 encodes the vesicular SNARE protein VAMP2 (also called synaptobrevin-2). Together with its partners syntaxin-1A and synaptosomal-associated protein 25 (SNAP25), VAMP2 mediates fusion of synaptic vesicles to release neurotransmitters. VAMP2 is essential for vesicular exocytosis and activity-dependent neurotransmitter release. Here, we report five heterozygous de novo mutations in VAMP2 in unrelated individuals presenting with a neurodevelopmental disorder characterized by axial hypotonia (which had been present since birth), intellectual disability, and autistic features. In total, we identified two single-amino-acid deletions and three non-synonymous variants affecting conserved resid…

Variable phenotype in 17q12 microdeletions: Clinical and molecular characterization of a new case

2014

Microdeletions of 17q12 including the hepatocyte nuclear factor 1 beta (HNF1B) gene, as well as point mutations of this gene, are associated with the Renal Cysts and Diabetes syndrome (RCAD, OMIM 137920) and genitourinary alterations. Also, microdeletions encompassing HNF1B were identified as a cause of Mayer-Rokitansky-Kuster-Hauser Syndrome (MRKH, OMIM 277000) in females and, recently, were associated with intellectual disability, autistic features, cerebral anomaly and facial dysmorphisms. In this report, we describe a boy with a deletion in 17q12 region detected by SNP array, encompassing the HNF1B gene, that showed dysmorphic features, intellectual disability (ID), serious speech delay…

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

2019

Purpose: To assess the contribution of rare variants in the genetic background toward variability of neurodevelopmental phenotypes in individuals with rare copy-number variants (CNVs) and gene-disruptive variants. Methods: We analyzed quantitative clinical information, exome sequencing, and microarray data from 757 probands and 233 parents and siblings who carry disease-associated variants. Results: The number of rare likely deleterious variants in functionally intolerant genes (“other hits”) correlated with expression of neurodevelopmental phenotypes in probands with 16p12.1 deletion (n=23, p=0.004) and in autism probands carrying gene-disruptive variants (n=184, p=0.03) compared with thei…

Thyroid Function in Early Pregnancy, Child IQ, and Autistic Traits: A Meta-Analysis of Individual Participant Data

2018

Context: Low maternal free T4 (FT4) has been associated with poor child neurodevelopment in some single-center studies. Evidence remains scarce for the potential adverse effects of high FT4 and whether associations differ in countries with different iodine status. Objective: To assess the association of maternal thyroid function in early pregnancy with child neurodevelopment in countries with a different iodine status. Design, Setting, and Participants: Meta-analysis of individual participant data from 9036 mother–child pairs from three prospective population-based birth cohorts: INMA [Infancia y Medio Ambiente (Environment and Childhood project) (Spain)], Generation R (Netherlands), and AL…

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

2010

Maternal Iodine Status During Pregnancy Is Not Consistently Associated with Attention-Deficit Hyperactivity Disorder or Autistic Traits in Children

2020

Background: Severe iodine deficiency during pregnancy can cause intellectual disability, presumably through inadequate placental transfer of maternal thyroid hormone to the fetus. The association between mild-to-moderate iodine deficiency and child neurodevelopmental problems is not well understood. Objectives: We investigated the association of maternal iodine status during pregnancy with child attention-deficit hyperactivity disorder (ADHD) and autistic traits. Methods: This was a collaborative study of 3 population-based birth cohorts: Generation R (n = 1634), INfancia y Medio Ambiente (n = 1293), and the Avon Longitudinal Study of Parents and Children (n = 2619). Exclusion criteria were…

Development of symbolic play through the use of virtual reality tools in children with autistic spectrum disorders: two case studies.

2008

Difficulties in understanding symbolism have been documented as characteristic of autistic spectrum disorders (ASDs). In general, virtual reality (VR) environments offer a set of potential advantages for educational intervention in ASD. In particular, VR offers the advantage, for teaching pretend play and for understanding imagination, of it being possible to show these imaginary transformations explicitly. This article reports two case studies of children with autism (aged 8:6 and 15:7, both male), examining the effectiveness of using a VR tool specifically designed to work on teaching understanding of pretend play. The results, confirmed by independent observers, showed a significant adv…

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. …