Results 41 to 50 of about 25,355 (233)

Distinct Neuropsychiatric Profiles Associated With 17p11.2 Deletions and RAI1 Variants in Smith–Magenis Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith–Magenis syndrome (SMS) results from either a recurrent 17p11.2 deletion or pathogenic variants in the retinoic acid induced 1 gene (RAI1). While neurodevelopmental impairment and behavioral dysregulation are well recognized, systematic genotype‐stratified analyses across psychiatric domains remain limited.
Albin Blanc   +7 more
wiley   +1 more source

Large scale fusion of gray matter and resting-state functional MRI reveals common and shared biological markers across the psychosis spectrum in the B-SNIP cohort

open access: yesFrontiers in Psychiatry, 2015
To investigate whether aberrant interactions between brain structure and function present similarly or differently across probands with psychotic illnesses (schizophrenia (SZ), schizoaffective disorder (SAD), and bipolar I disorder with psychosis (BP ...
Zheng eWang   +12 more
doaj   +1 more source

An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula   +8 more
wiley   +1 more source

Lower brain pH as a shared endophenotype of psychotic disorders [PDF]

open access: yes, 2016
Abstract Lower pH is a well-replicated finding in the postmortem brains of patients with schizophrenia and bipolar disorder. Interpretation of the data, however, is controversial as to whether this finding reflects a primary feature of the diseases or is a result of confounding factors such as medication, postmortem ...
Hagihara, Hideo   +11 more
openaire   +1 more source

Genetic overlap and causal associations between smoking behaviours and mental health

open access: yesScientific Reports, 2021
Cigarette smoking is a modifiable behaviour associated with mental health. We investigated the degree of genetic overlap between smoking behaviours and psychiatric traits and disorders, and whether genetic associations exist beyond genetic influences ...
Wikus Barkhuizen   +2 more
doaj   +1 more source

Trace Elements Genetics: A Potential Role in Treatment‐Resistant Major Psychoses and Related Traits?

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Trace elements are pivotal to key biological processes, with possible effects on psychopathology. We investigated the hypothesis of shared genetic factors between trace elements levels, treatment resistance and related traits. We used genome‐wide summary statistics for trace elements blood concentration, treatment‐resistant depression (TRD ...
Chiara Fabbri   +6 more
wiley   +1 more source

Folie a trois: A case report

open access: yesPsychiatry and Clinical Psychopharmacology, 2021
Shared psychotic disorder is a rare psychiatric syndrome in which a symptom of psychosis is transmitted from one individual to another. This syndrome is most commonly diagnosed when the two or more individuals live in close proximity and may be socially
Özcan Uzun   +2 more
doaj  

Toward a Behavioral Reserve Model in Amyotrophic Lateral Sclerosis

open access: yesAnnals of Neurology, EarlyView.
Objective Behavioral impairment is common in amyotrophic lateral sclerosis (ALS) and strongly affects autonomy, caregiver burden, and outcomes, yet predictors of vulnerability remain unclear. We investigated whether premorbid regulatory traits and socio‐educational exposures are associated with behavioral phenotypes in ALS within a behavioral reserve ...
Francesca Palumbo   +14 more
wiley   +1 more source

Delusions of a Magic Man Shared by Codependent Twin Sisters

open access: yesCase Reports in Psychiatry, 2022
Folie à deux has been called double insanity or shared psychotic disorder. In this report, we describe the case of twin sisters who presented with identical delusions. Both sisters reported a “magic man” lived in their bodies and made them weak.
Anam Shaikh, Randy Lai
doaj   +1 more source

Visual Responsivity in Autism: Measuring Visual Responses in Autistic and Non‐Autistic Adults Using Psychophysics, fMRI, and EEG

open access: yesAutism Research, EarlyView.
ABSTRACT Autistic individuals frequently report heightened sensitivity to visual stimuli, often described as discomfort in environments with bright or flickering lights. These experiences are hypothesized to reflect underlying differences in sensory gain or neural hyperexcitability; however, findings across studies have yielded mixed results, likely ...
Daniela L. Seczon   +6 more
wiley   +1 more source

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