Search results for "Autism spectrum disorder"
showing 10 items of 237 documents
First Case Report of Primary Carnitine Deficiency Manifested as Intellectual Disability and Autism Spectrum Disorder
2019
Systemic primary carnitine deficiency (PCD) is a genetic disorder caused by decreased or absent organic cation transporter type 2 (OCTN2) carnitine transporter activity, resulting in low serum carnitine levels and decreased carnitine accumulation inside cells. In early life, PCD is usually diagnosed as a metabolic decompensation, presenting as hypoketotic hypoglycemia, Reye syndrome, or sudden infant death; in childhood, PCD presents with skeletal or cardiac myopathy. However, the clinical presentation of PCD characterized by autism spectrum disorder (ASD) with intellectual disability (ID) has seldom been reported in the literature. In this report, we describe the clinical features of a sev…
FUNCIONES EJECUTIVAS Y MOTIVACIÓN DE NIÑOS CON TRASTORNO DE ESPECTRO AUTISTA (TEA) Y TRASTORNO POR DÉFICIT DE ATENCIÓN CON HIPERACTIVIDAD (TDAH)
2016
Resumen Objetivos. Comparar el perfil de niños con trastorno del espectro autista (TEA) y niños con trastorno por déficit de atención con hiperactividad (TDAH), presentación combinada, en componentes del funcionamiento ejecutivo (FE) y en comportamientos que están asociados al aprendizaje. Método. Participaron en esta investigación 16 niños con un diagnóstico clínico de TDAH y 16 niños con un diagnóstico clínico de TEA con alto nivel de funcionamiento que habían sido diagnosticados en servicios de Neuropediatría de la Comunidad Valenciana. Las edades estaban comprendidas entre 7 y 11 años. El 94% eran varones y se encontraban escolarizados en aulas ordinarias, estando equiparados los dos …
Urinaryp-cresol is elevated in young French children with autism spectrum disorder: a replication study
2014
The aromatic compound p-cresol (4-methylphenol) has been found elevated in the urines of Italian autistic children up to 8 years of age. The present study aims at replicating these initial findings in an ethnically distinct sample and at extending them by measuring also the three components of urinary p-cresol, namely p-cresylsulfate, p-cresylglucuronate and free p-cresol. Total urinary p-cresol, p-cresylsulfate and p-cresylglucuronate were significantly elevated in 33 French autism spectrum disorder (ASD) cases compared with 33 sex- and age-matched controls (p < 0.05). This increase was limited to ASD children aged ≤8 years (p < 0.01), and not older (p = 0.17). Urinary levels of p-cresol a…
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…
Training adults and children with an autism spectrum disorder to be compliant with a clinical dental assessment using a TEACCH-based approach
2014
The specific neuropsychological and sensory profile found in persons with autism spectrum disorders complicate dental procedures and as a result of this, most are treated under general anesthesia or unnecessary sedation. The main goal of the present study was to evaluate the effectiveness of a short treatment and education of autistic and related communication-handicapped children-based intervention program (five sessions) to facilitate a 10-component oral assessment in children (n = 38, aged 4¿9 years) and adults (n = 34, aged 19¿41) with autism spectrum disorder (with or without associated intellectual disability). The assessment ranges from entering into the examination room to the evalu…
Analysis of the Autism Spectrum Disorder (ASD) Knowledge of Cuban Teachers in Primary Schools and Preschools
2022
Teachers’ knowledge of autism spectrum disorder (ASD) plays a key role in the successful inclusion of children with ASD in regular schools. The objective of this study was to analyze Cuban teachers’ knowledge of ASD of at inclusive primary schools and preschools and to compare it with the results obtained in previous studies carried out at an international level. To do this, a cross-sectional study was conducted with Cuban teachers from urban and rural areas throughout the country. The sample was selected using a non-probabilistic technique. In total, 131 primary school and preschool teachers participated. Data were collected by applying the Autism Knowledge Questionnaire (AKQ) …
Cancer and central nervous system disorders: protocol for an umbrella review of systematic reviews and updated meta-analyses of observational studies
2017
[Background] The objective of this study will be to synthesize the epidemiological evidence and evaluate the validity of the associations between central nervous system disorders and the risk of developing or dying from cancer.
Risk of mortality among children, adolescents, and adults with autism spectrum disorder or attention deficit hyperactivity disorder and their first-d…
2017
BACKGROUND: Autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) are childhood onset neurodevelopmental disorders that may persist into adulthood. ASD and ADHD tend to run in families and may have a significant negative impact on the health and longevity of those with the disorder and their relatives. The aim of this study will be to analyze the risk of mortality among children, adolescents, and adults with ASD or ADHD and their first-degree relatives. METHODS/DESIGN: We will conduct a systematic review and meta-analysis of observational studies. Searches of PubMed/MEDLINE, EMBASE, PsycINFO, SCOPUS, and ISI Web of Science will be used to identify epidemiologica…
Commonalities and distinctions between two neurodevelopmental disorder subtypes associated with SCN2A and SCN8A variants and literature review.
2022
This study was aimed to analyze the commonalities and distinctions of voltage-gated sodium channels, Nav1.2, Nav1.6, in neurodevelopmental disorders. An observational study was performed including two patients with neurodevelopmental disorders. The demographic, electroclinical, genetic, and neuropsychological characteristics were analyzed and compared with each other and then with the subjects carrying the same genetic variants reported in the literature. The clinical features of one of them argued for autism spectrum disorder and developmental delay, the other for intellectual disability, diagnoses confirmed by the neuropsychological assessment. The first patient was a carrier of SCN2A (p.…
The Transition to Upper Secondary Level After Basic Education for Adolescents with Autism Spectrum Disorder in Finland
2019
This chapter provides an exploration of the preparation of pupils with autism spectrum disorder (ASD) for transition to upper secondary level after Finnish basic education. It also examines the importance of supports required during the transition phase. Two examples of pupils with ASD (Kalle and Maija) are utilized to illustrate how to plan and support pupils with ASD during their initial post-school transition. Transitions are defined, after which education opportunities after basic education for pupils with ASD in Finland are examined. This is followed by a brief illustration of the Finnish comprehensive school system to provide context with a focus on support arrangements and the prepar…