Results 81 to 90 of about 334,765 (343)

Quality of Life of Families Who Have Children With Cornelia de Lange Syndrome in Brazil: Opportunities for Improvement

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This exploratory cross‐sectional study aimed to estimate the family quality of life (FQoL) among 70 Brazilian families with children with Cornelia de Lange syndrome (CdLS). Data were collected using sociodemographic and clinical data forms, the Barthel index for activities of daily living, and the Beach Center FQoL Scale, a 5‐point Likert tool
Aline Apis, Beatriz Carvalho Nunes, Thainá Vilella, Rafaela Catelan Martins Pereira, Rui Fernando Pilotto, Lucimar Retto da Silva de Avó, Maria Isabel Melaragno, Carla Maria Ramos Germano, Débora Gusmão Melo   +8 more
wiley   +1 more source

Autism spectrum disorder and PTEN hamartoma tumor syndrome – Child and adolescent psychiatric perspective

Portuguese Journal of Pediatrics
Introduction: Autism spectrum disorder is a neurodevelopmental disorder characterized by impairments in social communication and social interaction and the presence of restricted, repetitive patterns of behavior, interests, or activities that negatively ...
Marta P. Antunes, Natália Tkachenko, Ana R. Soares, Graça Fernandes, Ana M. Fortuna, Célia Azevedo-Soares   +5 more
doaj   +1 more source

Everyday executive function and adaptive skills in children and adolescents with autism spectrum disorder: Cross-sectional developmental trajectories

Autism and Developmental Language Impairments, 2018
Background and aims The development of Executive Function in Autism Spectrum Disorder has been investigated using mainly performance-based executive function measures. Less is known about the development of everyday executive function skills. The present
Evangelia-Chrysanthi Kouklari, Stella Tsermentseli, Claire P Monks   +2 more
doaj   +1 more source

Positive outcome with neurofeedback treatment in a case of child with mild Autism Spectrum Disorder [PDF]

, 2014
Autism is a neurological disorder characterized by a lack of appropriate eye contact, facial expression, social interaction, communication, and restricted repetitive behavior.
Wong, Siao Yen, Yeo, Kee Jiar
core  

Early Start DENVER Model: a Meta - Analysis [PDF]

, 2015
Each child with Autism Spectrum Disorder has different symptoms, skills and types of impairment or disorder with other children. This is why the word “spectrum” is included in this disorder.
Boholano, H. B. (Helen), Canoy, J. P. (Jane)   +1 more
core   +3 more sources

Addressing the Diagnostic Odyssey for Adults With Neurodevelopmental Disabilities: Case Study of an Individual With Mandibulofacial Dysostosis With Microcephaly

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Whole exome sequencing (WES) has been widely used in the pediatric setting to increase diagnostic yield, provide treatment options, and to estimate reoccurrence risks. However, there is limited knowledge regarding the utility of this technology in adults with neurodevelopmental disabilities.
Ruhi Shah, Neora Shifrin, Mary Ellen Keogh, Elaine Marchi, Maureen Gavin, Karen Amble, Gholson J. Lyon   +6 more
wiley   +1 more source

درجة الفروق في امتلاك مهارات الضبط الذاتي لدى عينة من الأشخاص الناطقين وغير الناطقين ذوي اضطراب طيف التوحد بدولة الكويت [PDF]

, 2018
The present study aimed at studying the differences in the degree of self-control skills in a sample of spoken and non-spoken persons with autism spectrum disorder in Kuwait.
الزريقات, ابراهيم, الصفران, عبير   +1 more
core  

A Comparison between Schizophrenia and Autism [PDF]

, 2014
Autism spectrum disorder and schizophrenia share a substantial number of etiologic and phenotypic characteristics. Still, no direct comparison of both disorders has been performed to identify differences and commonalities in brain structure.
Bölte, Sven, Ciaramidaro, Angela, Freitag, Christine Margarete, Hainz, Daniela, Poustka, Fritz, Radeloff, Daniel, Schlitt, Sabine, Siniatchkin, Michael, Walter, Henrik, Weber, Bernhard   +9 more
core   +1 more source

Multiple Genomic Technologies Validate Rare Novel Variant and Direct Medical Care in Vascular Anomalies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Some vascular anomalies, such as hamartomas associated with PTEN hamartoma tumor syndrome (PHTS) and fibroadipose vascular anomaly (FAVA, often due to PI3KCA variants), share similar clinical, radiological, and histopathological presentations that challenge clinicians to provide an accurate diagnosis.
Luciana Daniela Garlisi Torales, Kristina Woodis, Allison Britt, Lea F. Surrey, Abhay Srinivasan, Arupa Ganguly, Maria Limmina, Dong Li, Suzanne P. MacFarland, Denise M. Adams, Sarah E. Sheppard   +10 more
wiley   +1 more source

Are Autistic Traits in Youth Meaningful? A Replication study in Non-referred Siblings of Youth with and without Attention-Deficit/Hyperactivity Disorder [PDF]

Scandinavian Journal of Child and Adolescent Psychiatry and Psychology, 2016
Joseph Biederman, Maura Fitzgerald, Stephen V. Faraone, Ronna Fried, K. Yvonne Woodworth, Alexandra Saunders, Kristina Conroy, Gagan Joshi   +7 more
doaj   +1 more source