scholarly journals Autism Spectrum Disorder and Ehlers-Danlos Syndrome - Hypermobility Type: A Case Report

2021 ◽  
Vol 28 (1) ◽  
Author(s):  
Neuseli Lamari ◽  
Carolina Baeza -Velasco ◽  
Gerardo Maria De Araújo Filho ◽  
Mateus Marino Lamari ◽  
Michael Peres De Medeiros
Keyword(s):  
Autism Spectrum Disorder ◽  
Case Report ◽  
Signs And Symptoms ◽  
Autism Spectrum ◽  
Joint Hypermobility ◽  
Spectrum Disorder ◽  
Ehlers Danlos Syndrome ◽  
Motor Disability ◽  
Joint Dislocations ◽  
Danlos Syndrome

Introduction: Autism Spectrum Disorder (ASD) and Ehlers-Danlos Syndrome – Hypermobility type (EDS-HT) can occur concomitantly, with the overlap of the characteristics of both conditions. Early diagnosis helps prevent suffering and injuries in patients with these conditions. Objective: To report the case of an adolescent with severe autism and EDS-HT, with musculoskeletal and extra-skeletal manifestations, and how it may affect the patient´s life of and his family. Case Report: This report shows the clinical history of the signs and symptoms of EDS-HT, mainly evidenced by generalized pain, fatigue, dislocations and motor disability, due to Joint Hypermobility (JH). These manifestations may not be noticed by the family members and health professionals, due to the communicative impairment that is part of the manifestations related to ASD. Conclusion: The early identification of signs and symptoms of EDS-HT in childhood could enable a better understanding of its manifestations in patients with ASD. It also enables the prevention of joint dislocations and the proposition of a proper ergonomic design for the home environment to minimize suffering of the patient and his family.

Autism spectrum disorder in a patient with genetic mosaicism: case report

2017 ◽  
Vol Ano 7 ◽  
pp. 38-41
Author(s):  
Ana Sofia Pontes Trillo ◽  
Mariana Gianola Arruda ◽  
Camila Fernandes Bonifácio Jubara ◽  
Isabela Mosconi Caldas ◽  
Sonia Maria Motta Palma
Keyword(s):  
Autism Spectrum Disorder ◽  
Case Report ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Genetic Mosaicism

O presente relato descreve o caso de um paciente com transtorno do espectro autista (TEA) associado ao mosaicismo genético 46XY, uma condição rara e pouco relatada. Os autores descrevem a evolução do paciente e discutem a literatura sobre anomalias cromossônicas associadas ao TEA. Conclui-se enfatizando que a avaliação clínica de cada caso de TEA deveria contemplar sempre aspectos neurológicos, psiquiátricos e genéticos.

A cross-sectional descriptive analysis of portrayal of autism spectrum disorders in YouTube videos: A short report

Autism ◽  
2019 ◽  
Vol 24 (1) ◽  
pp. 263-268 ◽  
Author(s):  
Monica L Bellon-Harn ◽  
Vinaya Manchaiah ◽  
Lekeitha R Morris
Keyword(s):  
Autism Spectrum Disorder ◽  
Assessment Tool ◽  
Descriptive Analysis ◽  
Signs And Symptoms ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Short Report ◽  
Cross Sectional ◽  
Related Information ◽  
Youtube Videos

Professionals have expressed concerns about the quality of autism-related information available from Internet-based sources. The purpose of this study was to examine the source, content, usability, and actionability of autism spectrum disorder–related information contained in 100 different videos directed to families of children with autism spectrum disorder uploaded to YouTube. Upload sources were identified, and video content was coded. Understandability and actionability of the videos were examined using Patient Education Materials Assessment Tool for Audiovisual Materials. The collective number of views of the videos was almost 100 million. The length of videos was 691.17 min (i.e. 11.5 h) with the shortest video being 30 s and the longest video being 37.36 min. The YouTube videos related to autism spectrum disorder covered a range of issues, although much of the content was focused on signs and symptoms. No difference in content reporting was noted based on sources for most categories, although differences were noted in some categories (e.g. professionals mentioned diagnosis and resources more frequently). Poor understandability and actionability scores (i.e. below 70%) were reported for all videos regardless of video source. However, the videos generated by the professionals were superior in terms of understandability. Study implications and recommendations for further research are discussed.

Autism Spectrum Disorder Associated with 48,XXYY: Case Report of a Rare Clinical Syndrome

2021 ◽  
Author(s):  
Cristina C. Silva ◽  
Sofia Morais ◽  
Graça Areias ◽  
Maria S. Meneses ◽  
Nuno G. G. F. Madeira ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Case Report ◽  
Autism Spectrum ◽  
Clinical Syndrome ◽  
Spectrum Disorder

Case Report: Whole Exome Sequencing Unveils an Inherited Truncating Variant in CNTN6 (p.Ser189Ter) in a Mexican Child with Autism Spectrum Disorder

2019 ◽  
Vol 50 (6) ◽  
pp. 2247-2251 ◽  
Author(s):  
José E. García-Ortiz ◽  
Ana I. Zarazúa-Niño ◽  
Angélica A. Hernández-Orozco ◽  
Edwin A. Reyes-Oliva ◽  
Carlos E. Pérez-Ávila ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Case Report ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Whole Exome ◽  
Mexican Child

scholarly journals Autism spectrum disorder, anxiety and severe depression in a male patient with deletion and duplication in the 21q22.3 region: A case report

2019 ◽  
Author(s):  
Sandro Orru ◽  
Ioannis Papoulidis ◽  
Elisavet Siomou ◽  
Dimitrios Papadimitriou ◽  
Sotirios Sotiriou ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Case Report ◽  
Male Patient ◽  
Severe Depression ◽  
Autism Spectrum ◽  
Spectrum Disorder

scholarly journals Rickets treatment improves more than bone health in toddler with autism spectrum disorder: A brief report

2019 ◽  
Vol 7 ◽  
pp. 2050313X1987002 ◽  
Author(s):  
Leah D Stalnaker ◽  
Priya Prasher ◽  
Susan Flesher
Keyword(s):  
Autism Spectrum Disorder ◽  
Vitamin D ◽  
Case Report ◽  
Effective Treatment ◽  
Vitamin D Deficiency ◽  
Developmental Delay ◽  
Bone Health ◽  
Children With Autism ◽  
Autism Spectrum ◽  
Spectrum Disorder

Children with autism spectrum disorder have been found to have lower levels of vitamin D than their peers. Our case report supports the hypothesis that vitamin D may be an effective treatment for developmental delay in autism. In addition, we review the literature surrounding vitamin D deficiency as a potential cause of autism spectrum disorder and the role that vitamin D may play in treatment.

Sign in / Sign up

Export Citation Format

Share Document