Results 211 to 220 of about 501,307 (362)

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley   +1 more source

“That grey area where no one can help”: The experience of younger people avoiding or leaving residential aged care who are not NDIS participants

open access: yesAustralian Journal of Social Issues, EarlyView.
Abstract Living in residential aged care (RAC) can have deleterious effects on the health, well‐being and social participation of younger people (<65 years of age). This research examined the barriers and enablers to leaving or avoiding RAC for Australian younger people who are not National Disability Insurance Scheme (NDIS) participants. It reports on
Barrie Shannon   +3 more
wiley   +1 more source

Supporting the Recovery of NDIS Participants With Psychosocial Disability: A Narrative Literature Review

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT This narrative literature review examines key issues surrounding psychosocial disability support in the National Disability Insurance Scheme (NDIS). It highlights the NDIS's neoliberal approach to support, which has underpinned a lack of clarity around the conceptualisation of psychosocial disability and recovery.
Johnny Choi, Kathy Ellem, John Drayton
wiley   +1 more source

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