Search results for "autism"

Sleep habits in children affected by autism spectrum disorders: A preliminary case-control study

2017

Introduction: The core of autism spectrum disorders (ASD) consists of alterations of neurological functions that affect the typical developmental trajectory leading to deficits in social interaction and non-verbal behaviors. In general, ASD is diagnosed at age three and many other frequent neurological signs may be present, such as sleep disorders. The aim of study is evaluating sleep habits in a sample of ASD children. Material and methods: The study population consists of 65 ASD children (43 males and 22 females), aged between 2 and 11 years (mean 5.73 ± 2.39 years). The control group consists of 114 children with typical development (68 males and 46 females), aged between 3 and 10 years …

Effects of l-Carnitine in Patients with Autism Spectrum Disorders: Review of Clinical Studies

2019

Carnitine is an amino acid derivative, which plays several important roles in human physiology, in the central nervous system, and for mitochondrial metabolism, in particular. Altered carnitine metabolic routes have been associated with a subgroup of patients with autism spectrum disorders (ASD) and could add to the pathophysiology associated with these disorders. We review the current evidence about the clinical effects of carnitine administration in ASD in both non-syndromic forms and ASD associated with genetic disorders. Two randomized clinical trials and one open-label prospective trial suggest that carnitine administration could be useful for treating symptoms in non-syndromic ASD. Th…

A guide to indicators for the evaluation of specialist autism centres, based on the quality-of-life model

2017

Objective: The evaluation of individual and organizational quality of life through the Guide to Quality-of-Life Indicators and its promotion in English-speaking areas. This guide was initially designed for people living with Autism Spectrum Disorder in specialist autism centers in Spanish and Italian-speaking areas where its effectiveness has been validated. Method: The Delphi technique is applied to the design of a qualitative investigation, with expert validation for the adaptation to English-speaking areas. Results: The results have facilitated the adaptation and validation of the tool, which has 68 indicators grouped into six areas, for its application in both the planning and the evalu…

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

2010

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…

Behavioural aspects of patients with Autism Spectrum Disorders (ASD) that affect their dental management

2013

Dental treatment in patients with Autism Spectrum Disorders (ASD) can be complicated due to the presence of behavioral alterations. In this group, there are no specific behavioral profiles that allow dentist to anticipate the attitude that a patient will show during a visit. Thus, behavioral attitudes have been described that vary from total permissiveness and collaboration during even bloody procedures, to the absolute impossibility in conducting a simple oral examination. There is no effective behavioral management technique for all ASD patients. Prior information, such as the type of ASD or the presence of certain concurrent pathologies can help predict the patient’s likely behavior. The…

Fragile-X carrier females: evidence for a distinct psychopathological phenotype?

1996

The present study examined 35 mothers (29 premutation carriers) of children with fragile-X syndrome in measures of intelligence and psychiatric disorders by comparing them with two control groups: a) 30 mothers of children in the general population and b) 17 mothers of non-fra-X retarded children with autism. Premutation carriers had a higher frequency of affective disorders than mothers from the general population. Preliminary data indicate that normally intelligent premutation carriers of the fra-X genetic abnormality have a similar frequency of affective disorders (DSM-III-R criteria [APA, 1987]) than mothers of autistic children. Neither carriers of the premutation nor carriers of the f…

Customization Support in Computer-Based Technologies for Autism: A Systematic Mapping Study

2020

Autism Spectrum Disorder (ASD) is a neurodevelopmental condition characterized by social interaction and communication difficulties, along with narrow and repetitive interests. Being a spectrum dis...

Incidence of oral health in paediatric patients with disabilities: Sensory disorders and autism spectrum disorder. Systematic review II

2016

Introduction We are currently witnessing an increase in the number of disabled patients, creating the need for knowledge of each of the pathologies and of the different oral and dental conditions they present, in order to achieve efficient management and treatment. Objectives To analyse the existing scientific literature on the oral conditions of children with autism spectrum disorder (ASD) and children with sensory deficits (SD), in comparison with the healthy child population. Material and Methods The bibliographic search was carried out in Pubmed/Medline, Scopus and Cochrane Library and included articles taking a sample of children between 0 and 18 years of age diagnosed with the aboveme…

Relationships between the social communication questionnaire and pragmatic language, socialization skills, and behavioral problems in children with a…

2019

The Social Communication Questionnaire (SCQ) is one of the most widely used screening instruments for autism spectrum disorder (ASD). This study examined the relationships between the reciprocal social interaction, communication, and repetitive/stereotyped factors on the Strength and Difficulties Questionnaire (SDQ) and pragmatic, socialization, and behavioral problems in children with ASD and children with typical development (TD). Participants were seven- to 11-year-old children with ASD without intellectual disability (