Results 61 to 70 of about 110,801 (250)
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 +7 more
doaj +1 more source
Autism spectrum disorder (ASD) is characterized by deficits in social communication and social interaction together with restrictive, repetitive, and inflexible patterns of behavior including routines, rituals, and overfocused interests, sensory sensitivities, and motor stereotypies (e.g., hand flapping when excited or anxious).
David Skuse +3 more
openaire +2 more sources
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli +18 more
wiley +1 more source
Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley +1 more source
Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy +16 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo +3 more
wiley +1 more source
Portuguese Journal of PediatricsIntroduction: 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 +5 more
doaj +1 more source