Results 181 to 190 of about 475,058 (385)

Resilience, and positive parenting in parents of children with syndromic autism and intellectual disability. Evidence from the impact of the COVID‐19 pandemic on family's quality of life and parent–child relationships

open access: yesAutism Research, Volume 15, Issue 12, Page 2381-2398, December 2022., 2022
Abstract Family quality of life (FQoL) outcomes collected during the first year of COVID‐19 has been combined with 2018 data to estimate the outbreak's impact on parental outcomes on a sample of 230 families with syndromic autistic children and those with intellectual disabilities (IDs).
Corneliu Bolbocean   +4 more
wiley   +1 more source

Expanding the SIAH1‐Associated Phenotypic Spectrum: Insights From Loss‐of‐Function Variants

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT SIAH1 encodes for a RING‐type E3 ubiquitin ligase involved in protein ubiquitination. More specifically, it positively regulates Wnt signaling through promoting the accumulation of β‐catenin and mediates ubiquitination and degradation of Akt3 in neural development.
Liza Douiev   +14 more
wiley   +1 more source

Examining the relationship between cognitive inflexibility and internalizing and externalizing symptoms in autistic children and adolescents: A systematic review and meta‐analysis

open access: yesAutism Research, Volume 15, Issue 12, Page 2265-2295, December 2022., 2022
Abstract Compared to neurotypical peers, autistic adolescents show greater cognitive inflexibility (CI) which manifests at the behavioral and cognitive level and potentially increases vulnerability for the development of internalizing (INT) and externalizing (EXT) symptoms.
Jiedi Lei   +5 more
wiley   +1 more source

Temporal Patterns of Multiple Long-Term Conditions in Individuals with Intellectual Disability Living in Wales: An Unsupervised Clustering Approach to Disease Trajectories [PDF]

open access: yesarXiv
Identifying and understanding the co-occurrence of multiple long-term conditions (MLTC) in individuals with intellectual disabilities (ID) is vital for effective healthcare management. These individuals often face earlier onset and higher prevalence of MLTCs, yet specific co-occurrence patterns remain unexplored.
arxiv  

Moore v. Texas: Balancing Medical Advancements With Judicial Stability [PDF]

open access: yes, 2017
In Moore v. Texas, the Supreme Court will consider whether the Eighth Amendment requires States to adhere to a particular organization’s most recent clinical definition of intellectual disability in determining whether a person is exempt from the death ...
Taft, Emily
core   +1 more source

Costello Syndrome and Ophthalmologic Issues: Unveiling the Unseen

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Costello syndrome (CS) is an ultra‐rare condition belonging to the RASopathies, a group of disorders characterized by aberrant RAS/MAPK pathway signaling, which is involved in ocular development and in some eye pathologies. However, only a few studies assessing the ophthalmic features of individuals with CS are available.
Sofia Peschiaroli   +13 more
wiley   +1 more source

A New EP300‐Related Syndrome With Prominent Developmental and Immune Phenotypes

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rubinstein Taybi syndrome (RTS) is a disorder of chromatin remodeling and transcriptional regulation caused by heterozygous pathogenic variants in CREBBP and EP300. RTS is characterized by a distinct facial gestalt, intellectual disability, structural kidney and heart differences, feeding difficulties, and broad thumbs and great toes ...
Devi Priyanka Maripuri   +3 more
wiley   +1 more source

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