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

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.

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.

scholarly journals Challenges in managing children with Autism Spectrum Disorder and COVID-19: A case report

2021 ◽  
Vol 16 (2) ◽  
pp. 67-69
Author(s):  
Shaji George ◽  
Vui Heng Chong
Keyword(s):  
Autism Spectrum Disorder ◽  
Case Report ◽  
Children With Autism ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Tertiary Center ◽  
Morbid Conditions

Children of all ages can be affected by coronavirus disease 2019 (COVID-19), although they appear to be less affected than adults in both incidence and severity. Difficulties arise in children with co-morbid conditions such as Autism Spectrum Disorder (ASD) with regard to isolation or quarantine, investigation, and management. It can be a challenge to manage such children, be it in a national COVID center or hospital or a tertiary center. We report our experience and the challenges we faced managing two siblings with ASD and COVID-19.

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