Výsledky vyhledávání - "intellectual and developmental disabilities (idd)"

Elektronická kniha

Autor: Fraser, Benjamin

People with Down syndrome possess a culture. They are producers of culture. And in the 21st century, this culture is increasingly visible as a global phenomenon. Down Syndrome Culture examines Down syndrome alongside its social, cultural, and artisti

Externí odkaz: https://library.oapen.org/handle/20.500.12657/93929

Zobrazit plný text záznamu

Akademický článek

Integrating vocational supports into a transition clinic: A pilot program

Autor: Elijah W. Hale, Aryn Taylor, Marlee Elton, Melanie Honsbruch, Cordelia Robinson Rosenberg, Jessica Solomon Sanders

Publikováno v: Health Care Transitions, Vol 2, Iss , Pp 100048- (2024)

Objective: Pilot a clinical model and study to learn more about how employment impacts health in children and young adults with intellectual and developmental disabilities. Background: As young individuals transition into adulthood, milestones such a

Externí odkaz: https://doaj.org/article/4cdf9e8156c947f18b50e30a89183bc8

Zobrazit plný text záznamu

Akademický článek

Promising Practices in the Frontiers of Quality Outcome Measurement for Intellectual and Developmental Disability Services

Autor: Matthew Bogenschutz, Parthenia Dinora, Sarah Lineberry, Seb Prohn, Michael Broda, Angela West

Publikováno v: Frontiers in Rehabilitation Sciences, Vol 3 (2022)

Medicaid Home and Community-Based Services (HCBS) for people with intellectual and developmental disabilities (IDD) are vital for supporting people with IDD to live well in their communities, but there are not set standards for monitoring quality out

Externí odkaz: https://doaj.org/article/888777ff6315480289529610ba9f6240

Zobrazit plný text záznamu

Akademický článek

Autistic-like Behaviors Associated with a Novel Non-Canonical Splice-Site DDX3X Variant: A Case Report of a Rare Clinical Syndrome

Autor: Urszula Stefaniak, Roksana Malak, Ewa Mojs, Włodzimierz Samborski

Publikováno v: Brain Sciences, Vol 12, Iss 3, p 390 (2022)

Background. Heterozygous pathogenic variants in the DDX3X gene account for 1–3% of females with intellectual and developmental disabilities (IDD). The clinical presentation is variable, including a wide range of neurological and behavioral deficits

Externí odkaz: https://doaj.org/article/04e68c063cf04e45b0cea5bf5e2902b7

Zobrazit plný text záznamu

Plný text ve formátu HTML

Dysregulated cholesterol metabolism, aberrant excitability and altered cell cycle of astrocytes in fragile X syndrome

Autor: Baiyan Ren, Maria Burkovetskaya, Yoosun Jung, Lara Bergdolt, Steven Totusek, Veronica Martinez‐Cerdeno, Kelly Stauch, Zeljka Korade, Anna Dunaevsky

Publikováno v: Glia
Glia, vol 71, iss 5

Fragile X syndrome (FXS), the most prevalent heritable form of intellectual disability, is caused by the transcriptional silencing of the FMR1 gene. While neuronal contribution to FXS has been extensively studied in both animal and human-based models

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c1b0ac7fcf7bde8549ccee0a188a569a
https://doi.org/10.1002/glia.24331

Zobrazit plný text záznamu

Akademický článek

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

The aberrant behavior profile in Indonesian individuals with fragile X syndrome with limited genetic services

Autor: Tri Indah Winarni, Tanjung Ayu Sumekar, Widodo Sarjana, Hardian Hardian, Randi J Hagerman, Sultana MH Faradz

Publikováno v: Intractable Rare Dis Res
Intractable & rare diseases research, vol 11, iss 4

Fragile X syndrome (FXS) is caused by the full mutation in the fragile x messenger ribonucleoprotein 1 (FMR1) gene leading to the absence of the fragile X protein (FXP). Previous studies show that individuals with FXS exhibit changing behavior over t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d83ba468c0b32e56adb8d9228616da9
https://doi.org/10.5582/irdr.2022.01075

Zobrazit plný text záznamu

Diagnosis and treatment of children and adolescents with autism and ADHD

Autor: Burt Hatch, Girija Kadlaskar, Meghan Miller

Publikováno v: Psychology in the schools, vol 60, iss 2

Attention-deficit/hyperactivity disorder (ADHD) and autism are neurodevelopmental disorders that emerge in childhood. There is increasing recognition that ADHD and autism frequently co-occur. Yet, questions remain among clinicians regarding the best

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb37d3d51c1eef3cad7f8c63e91594be
https://doi.org/10.1002/pits.22808

Zobrazit plný text záznamu

Tandem duplication within the DMD gene in Labrador retrievers with a mild clinical phenotype

Autor: G. Diane Shelton, Katie M. Minor, Natassia M. Vieira, Louis M. Kunkel, Steven G. Friedenberg, Jonah N. Cullen, Ling T. Guo, Mayana Zatz, James R. Mickelson

Publikováno v: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Neuromuscular disorders : NMD, vol 32, iss 10

A form of dystrophinopathy with mild or subclinical neuromuscular signs has been previously reported in a family of Labrador retrievers. Markedly and persistently elevated creatine kinase activity was first noted at 6 months of age. Skeletal muscle b

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94f162179ee34479d31d854fd3db0568
https://doi.org/10.1016/j.nmd.2022.08.001

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání