Results 131 to 140 of about 105,746 (303)

Imitation, play and theory of mind in autism : an observational and experimental study

, 2012
This observational and experimental study takes the Intersubjectivity Theory of Rogers and Pennington (1991), as the guiding line by which to investigate imitation in autism.
Brown, Julie D.
core  

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

Brief report : the level and nature of autistic intelligence revisited

, 2008
Owing to higher performance on the Raven’s Progressive Matrices (RPM) than on the Wechsler Intelligence Scales (WIS), it has recently been argued that intelligence is underestimated in autism.
Dziobek, I., Bölte, S., Sven Bölte, Isabel Dziobek, Fritz Poustka, Poustka, F., Bölte, Sven, Dziobek, Isabel, Poustka, Fritz   +8 more
core   +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

Inhibition and Formation of Amyloid Fibrils in the Bulk and at the Interface of Biomolecular Condensates

Angewandte Chemie, EarlyView.
In this review, we discuss how biomolecular condensates can inhibit amyloid aggregation in their interior, while still facilitating fibril formation at the interface between the dense and dilute phases, where molecular and mesoscale properties are likely optimal to promote protein aggregation.
Marcell Papp, Chiara Morelli, Sarah Khawaja, Paolo Arosio   +3 more
wiley   +2 more sources

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

Parents’ responses to their child’s diagnosis of Autism Spectrum Disorder (ASD)

, 2010
Although a significant amount of research has reported the level of parental satisfaction with the disclosure of a diagnosis, little has documented their emotional responses after the diagnosis, their perceptions of the future, and the potential impact ...
Evans, Amber
core  

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Sexual and Reproductive Health Needs for Adolescents with Autistic Spectrum Disorder in Rwanda, A Phenomenological Study

Pediatric Health, Medicine and Therapeutics
Dusabirema Immaculée,1 Girum Sebsibie Teshome,2 Dieudonne Kayiranga,2 Philomene Uwimana2 1Department of Operation Room, Rwamagana Level II Teaching Hospital, Rwamagana, Rwanda; 2School of Nursing and Midwifery, College of Medicine and Health Sciences ...
Immaculée D, Teshome GS, Kayiranga D, Uwimana P   +3 more
doaj  

Explaining the Theory of Mind Deficit in Autism Spectrum Disorder [PDF]

, 2011
The theory of mind (ToM) deficit associated with autism has been a central topic in the debate about the modularity of the mind. Most involved in the debate about the explanation of the ToM deficit have failed to notice that autism’s status as a spectrum
Adams, Marcus P
core