Results 201 to 210 of about 475,058 (385)

Exploring cumulative disadvantage in early school leaving and planned post‐school pathways among those identified with special educational needs in Irish primary schools

open access: yesBritish Educational Research Journal, Volume 48, Issue 6, Page 1065-1082, December 2022., 2022
Abstract Reflecting the neglect of childhood disability in social stratification research, there is a notable dearth of research on the mechanisms underpinning disability differentials in educational outcomes. Drawing on rich longitudinal data collected at 9, 13 and 17 years as part of Ireland's ‘Growing Up in Ireland’ study, we look at the impact of ...
Eamonn Carroll   +2 more
wiley   +1 more source

Prenatal Brain Abnormalities in Sodium‐Dependent Multivitamin Transporter Deficiency

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT In treatable neurometabolic disorders, early diagnosis and prompt initiation of treatment are key to improved survival and outcomes. Biallelic variants in SLC5A6 cause sodium‐dependent multivitamin transporter deficiency (OMIM # 618973), which is treatable with high‐dose pantothenic acid, biotin, and alpha lipoic acid.
Eri Ogawa   +2 more
wiley   +1 more source

Inclusive Design Insights from a Preliminary Image-Based Conversational Search Systems Evaluation [PDF]

open access: yesarXiv
The digital realm has witnessed the rise of various search modalities, among which the Image-Based Conversational Search System stands out. This research delves into the design, implementation, and evaluation of this specific system, juxtaposing it against its text-based and mixed counterparts.
arxiv  

Exploring Oral Health Related Quality of Life in Rett Syndrome Using Directed Content Analysis

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT No validated oral health‐related quality of life (OHRQOL) instrument currently exists for those with severe intellectual and developmental disabilities and who communicate non‐verbally. This qualitative study aimed to explore the domains that were important to the oral health‐related quality of life in individuals with Rett syndrome (RTT).
Yvonne Yee Lok Lai   +4 more
wiley   +1 more source

Internalizing Psychiatric Symptoms in People With Mosaicism for Trisomy 21

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT People with mosaicism for trisomy 21 have been shown to exhibit many of the same phenotypic traits present in people with non‐mosaic Down syndrome, but with varying symptom severity. However, the behavioral phenotype of people with mosaic Down syndrome (mDS) has not been well characterized.
Ruth C. Brown   +7 more
wiley   +1 more source

A Transcriptome‐Wide Mendelian Randomization Study in Isolated Human Immune Cells Highlights Risk Genes Involved in Viral Infections and Potential Drug Repurposing Opportunities for Schizophrenia

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Schizophrenia is a neurodevelopmental psychiatric disorder characterized by symptoms of psychosis, thought disorder, and flattened affect. Immune mechanisms are associated with schizophrenia, though the precise nature of this relationship (causal, correlated, consequential) and the mechanisms involved are not fully understood.
David Stacey   +6 more
wiley   +1 more source

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