Results 111 to 120 of about 585,856 (303)

Autistic and transgender/gender diverse people’s experiences of health and healthcare

Molecular Autism
Background Autistic people and transgender/gender diverse people experience poorer healthcare experiences and greater risk of diagnosed, suspected, and assessment recommended health conditions, compared to non-autistic and cisgender individuals ...
Kate Green, Elizabeth Weir, Lily Wright, Carrie Allison, Simon Baron-Cohen   +4 more
doaj   +1 more source

Integrated genetic and methylomic analyses identify shared biology between autism and autistic traits

Molecular Autism, 2019
Previous studies have identified differences in DNA methylation in autistic individuals compared to neurotypical individuals. Yet, it is unclear if this extends to autistic traits—subclinical manifestation of autism features in the general population ...
Aicha Massrali, Helena Brunel, Eilis Hannon, Chloe Wong, iPSYCH-MINERvA Epigenetics Group, Simon Baron-Cohen, Varun Warrier   +6 more
doaj   +1 more source

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

Does baseline language ability predict response to early intervention for toddlers with early signs of autism? Evidence from a caregiver-mediated program

Frontiers in Human Neuroscience
BackgroundCaregiver-mediated interventions (CMIs) for young autistic children are supported by mounting evidence of efficacy. Attempts to identify child-level factors that predict treatment response have yielded inconsistent findings, with very few such ...
Jessica Ann Brian, Jessica Ann Brian, Ian Roth, Lonnie Zwaigenbaum, Isabel Smith, Lori-Ann Rosalind Sacrey, Kate Bernardi, Stacey MacWilliam, Sara Daoud, Erin Dowds, Sanne Jilderda, Samara Osten, Anna Michelis, Abbie Solish   +13 more
doaj   +1 more source

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel Del Campo, Lynne M. Bird   +3 more
wiley   +1 more source

Mapping brain growth and sex differences across prenatal to postnatal development

Scientific Reports
The perinatal period, encompassing both prenatal and early postnatal stages, is a highly dynamic and foundational phase of brain development. Despite its significance, limited work has tracked brain growth continuously across prenatal to postnatal ...
Yumnah T. Khan, Alex Tsompanidis, Marcin A. Radecki, Carrie Allison, Meng-Chuan Lai, Richard A. I. Bethlehem, Simon Baron-Cohen   +6 more
doaj   +1 more source

The First Reported Case of an Inherited Pathogenic Variant in DEAF1 From a Parent With Milder Phenotype Provides Evidence of Variable Gene Expressivity of the DEAF1‐Associated Vulto‐van Silfout‐de Vries Syndrome (VSVS)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT DEAF1‐associated neurodevelopmental disorder (DAND) is a neurodevelopmental spectrum disorder caused by two methods of inheritance: the autosomal dominant intellectual disability syndrome (Vulto‐van Silfout‐de Vries syndrome (VSVS), OMIM #615828), and the autosomal recessive Neurodevelopmental disorder with hypotonia and impaired expressive ...
Kylie Katz, Philip Jensik, Milen Velinov
wiley   +1 more source

THE TEACHING MEDIA USED BY THE TEACHERS FOR \ud VERBAL INTERMEDIATE AUTISM STUDENTS IN \ud “LABORATORIUM SEKOLAH AUTIS” STATE UNIVERSITY OF MALANG [PDF]

, 2007
Teaching media is very important for autism to compensate the lack of interest in other people \ud that sometimes appear to be an actual version contact with human being. Media used in teaching \ud learning process are varied.
NOVARIA, YULI
core  

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +1 more source