Results 161 to 170 of about 54,392 (253)

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

The Intersection of Autism and Gender Diversity in the Canadian Clinical Context: Characterizing a Sample of Adults Referred to Canada's Largest Publicly Funded Adult Gender-Care Service: Intersection de l'autisme et de la diversité des identités de genre dans le contexte clinique canadien : Caractérisation d'un échantillon d'adultes orientés vers le plus grand service de soins en matière d'identité de genre destinés aux adultes financé par le secteur public au Canada. [PDF]

Can J Psychiatry
Pascoe MI, Vincent J, Lai MC, Desarkar P, Vitopoulos N, Lunsky Y, MacKinnon KR, Lam JSH.   +7 more
europepmc   +1 more source

Gender Identity Disorders and Gender Diversity

Kyushu Neuropsychiatry, 2018
Kenta Nagano, Hitoshi Iida, Yuma Ogushi, Shiho Yarimitsu, Yuya Muto, Rika Yano, Hiroaki Kawasaki   +6 more
openaire   +2 more sources

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Delays in diagnosis and treatment of depressive disorder among young adults: A national online survey-based cross-sectional study. [PDF]

PLoS One
Xu R, Pletta D, Feng C, Morrow C, Clark MC, Omar B, Keuroghlian AS, Reisner SL.   +7 more
europepmc   +1 more source

Owning Home, Finding Belonging: Relational Meanings of Homeownership for Migrant Healthcare Workers in Australia

Australian Journal of Social Issues, EarlyView.
ABSTRACT Migrant healthcare workers in Australia find themselves at the centre of three intersecting concerns, often presented as ‘crises’ in contemporary discourse: the ‘care crisis’, the ‘housing crisis’ and the ‘migration crisis.’ Yet their own perspectives on these issues are rarely foregrounded. This paper explores the role of homeownership in the
Leah Williams Veazey
wiley   +1 more source

Investigation of associations between self-reported sensory processing, eating disorder symptoms, neurodivergence, and gender congruence from a lived experience lens. [PDF]

J Eat Disord
Cobbaert L, Schweizer K, Thomas KS, Elwyn R, Bier C, Sharpe SL, Hay P, Mitchell PB, Miskovic-Wheatley J.   +8 more
europepmc   +1 more source

Judicial Perspectives on Neurodiversity in Queensland Courts, Tribunals and Commissions: Experiences With Disclosure and Witness Credibility

Australian Journal of Social Issues, EarlyView.
ABSTRACT Little is known about the impacts of the disclosure, or the non‐disclosure, of medical conditions associated with neurodiversity in the context of court proceedings and hearings before tribunals and commissions. This paper examines the experiences of twenty‐three Queensland Judges, Magistrates, and Tribunal and Commission Members with ...
Danielle Bozin, Karen A. Sullivan, Vincent Denault, Catherine Kennon, Lucy Cradduck, Rachel Hews   +5 more
wiley   +1 more source

Understanding Sex and Gender Effects on Autism Spectrum Disorder and Obsessive-Compulsive Disorder: Clinical Presentation and Risk Factors. [PDF]

Biol Psychiatry Glob Open Sci
Pearlman A, Abell A, Jauhar P, Christensen E, Dhamala E.   +4 more
europepmc   +1 more source

Caregiver Reports on the Needs and Experiences of Children Impacted by Parental Incarceration: Results From an Australian Survey

Australian Journal of Social Issues, EarlyView.
ABSTRACT Children experiencing parental imprisonment are known to be among the most overlooked in our community. They often experience multiple and compounding disadvantages, with long‐term consequences, but receive no specialised assistance. Knowledge about these children and their families is lacking in Australia and is required to inform policy ...
Catherine Flynn, Lana Battaglia, Lorana Bartels, Susan Dennison, Susy Harrigan, Lee Huggins, Sofia Grage‐Moore   +6 more
wiley   +1 more source