Results 101 to 110 of about 276,867 (293)

Psychiatric and Cognitive Features in Italian Women With the FMR1 Premutation: A Comprehensive Assessment Using SCID‐5 and Standardized Cognitive Measures

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Women with the FMR1 premutation (PM) are at increased risk for fragile X‐associated conditions (FXPAC), including cognitive and psychiatric features collectively termed fragile X‐associated neuropsychiatric disorders (FXAND). This study is the first to systematically investigate cognitive and psychiatric features in Italian female premutation ...
Federica Alice Maria Montanaro   +5 more
wiley   +1 more source

The predictors of sleep quality in mothers of children with autism spectrum disorders in the west of Iran: A path analysis

open access: yesHeliyon
There is limited data available on the impact of sleep problems in children with ASD on parents' sleep quality. Due to the lack of research in Iran on factors affecting the sleep quality of mothers of children with ASD, this study was designed to explore
Ensiyeh Jenabi   +5 more
doaj   +1 more source

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

open access: yesAmerican 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   +6 more
wiley   +1 more source

A Comparison between Schizophrenia and Autism [PDF]

open access: yes, 2014
Autism spectrum disorder and schizophrenia share a substantial number of etiologic and phenotypic characteristics. Still, no direct comparison of both disorders has been performed to identify differences and commonalities in brain structure.
Bölte, Sven   +9 more
core   +1 more source

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

open access: yesAmerican 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   +2 more
wiley   +1 more source

What does the intention to be a volunteer for a student with autism predict? the role of cognitive brain types and emotion and behavior characteristics [PDF]

open access: yes, 2018
The study was designed to verify which cognitive brain types and behaviors in classroom predicted the intention to volunteer to become a peer buddy for a student with Autism Spectrum Disorder (ASD).
Baiocco, Roberto   +3 more
core   +3 more sources

Autism Spectrum Disorders [PDF]

open access: yesNeuron, 2000
Lord, Catherine   +3 more
openaire   +2 more sources

Autism spectrum disorder.

open access: yes
Autism spectrum disorder (ASD) is characterized by deficits in social communication and social interaction together with restrictive, repetitive, and inflexible patterns of behavior including routines, rituals, and overfocused interests, sensory sensitivities, and motor stereotypies (e.g., hand flapping when excited or anxious).
Skuse, David   +3 more
openaire   +2 more sources

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

open access: yesAmerican 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   +3 more
wiley   +1 more source

Maladaptive cognitive appraisals in children with high-functioning autism : associations with fear, anxiety and theory of mind [PDF]

open access: yes, 2013
Despite the well-documented success of cognitive restructuring techniques in the treatment of anxiety disorders, there is still little clarity on which cognitions underpin fear and anxiety in children with high-functioning spectrum disorders (HFASD ...
Hunter, Simon C.   +2 more
core   +1 more source

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