Results 81 to 90 of about 2,929,561 (349)
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 +8 more
wiley +1 more source
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 +6 more
wiley +1 more source
Quality of life of mothers of children with autistic disorder
Al-Azhar Assiut Medical JournalBackground and aim Quality of life (QoL) assessment for families of autistic children has become a crucial research topic. Purpose of this study was to evaluate the QoL of mothers of children diagnosed with autistic disorder.
Amira M.M. Hamed +3 more
doaj +1 more source
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 +10 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Sotos syndrome is an autosomal dominant condition caused by pathogenic variants in the NSD1 gene on chromosome 5q35. It is characterized by macrosomia, distinctive facial features, and developmental delays. Patients are also reported to have a behavioral phenotype including autism spectrum disorder, attention deficit/hyperactivity disorder ...
Aravind Viswanathan +4 more
wiley +1 more source
Scientific ReportsThis study examined the presence of autistic traits in a sample of adult women diagnosed with different Eating Disorders (ED), and explored the concurrent role of autistic traits and sensory sensitivity in influencing both their eating disorder ...
Gianmarco Ingrosso +14 more
doaj +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Angelman syndrome (AS) is a neurodevelopmental disorder characterized by severe developmental delays, typical facial features, ataxia, seizures, speech impairments, sleeping difficulties, and a happy demeanor. Caregivers of individuals with AS often report feeding problems, with difficulties including issues with obesity, failure to gain ...
Ciara Cassidy +6 more
wiley +1 more source
Preliminary Study in Children with Autistic Savant Syndrome
Journal of Nobel Medical College, 2015 Background: Savant syndrome, characterized by remarkable islands of mental ability in otherwise mentally handicapped persons, may occur in autistic as well as non autistic individuals.
Vijay Kumar Sah
doaj +1 more source
Association between heavy metals exposure (cadmium, lead, arsenic, mercury) and child autistic disorder: a systematic review and meta-analysis. [PDF]
Front Pediatr, 2023 Ding M, Shi S, Qie S, Li J, Xi X.
europepmc +1 more source
AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Deletions of the 3q26.33q27.2 region appear to correlate with a distinct phenotype, although there are few reported cases. Here, we present seven previously unreported individuals carrying de novo 3q27 deletions (under 5 Mb), which include the AP2M1 (adaptor‐related protein complex 2, mu‐1 subunit) gene and summarize data from 12 previously ...
Russell Gear +16 more
wiley +1 more source