Results 171 to 180 of about 2,738,400 (241)

Clinical and genetic characterization of intellectual disability

open access: yesDevelopmental Medicine &Child Neurology, Volume 68, Issue 11, Page 1601-1609, November 2026.
This study examines the etiological factors and comorbidities in a large cohort of Finnish patients with intellectual disability. Genetic causes—including chromosomal abnormalities and pathogenic gene variants—were more frequently identified in individuals with moderate to profound intellectual disability.
Aarni Venetvaara   +14 more
wiley   +1 more source

Prevalence, Phenotypic Correlates and Predictive Factors of Catatonia in Adolescents With Autism Spectrum Disorder

open access: yesJournal of Intellectual Disability Research, Volume 70, Issue 11, Page 1215-1228, November 2026.
ABSTRACT Background Catatonia, a psychomotor syndrome increasingly recognized in individuals with autism spectrum disorder (ASD), remains frequently underdiagnosed due to symptom overlap, particularly in adolescent populations where data remain limited.
Rahime Duygu Temelturk   +5 more
wiley   +1 more source

Current practices in delirium prevention and treatment after acute stroke: results of a multicentre survey. [PDF]

open access: yesTher Adv Neurol Disord
Kneihsl M   +12 more
europepmc   +1 more source

Admixture Mapping Reveals Candidate Regions for Methotrexate Neurotoxicity Susceptibility: A Reducing Disparities in Acute Leukemia Consortium Report

open access: yesPediatric Blood &Cancer, Volume 73, Issue 10, October 2026.
ABSTRACT Background Neurotoxicity is a rare, often dose‐limiting adverse effect of methotrexate (MTX) therapy that disproportionally affects Latino children. Factors contributing to the observed disparity are not well understood. This study leveraged admixture mapping to identify genetic regions associated with MTX‐related neurotoxicity susceptibility ...
Rachel D. Harris   +24 more
wiley   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2289-2308, October 2026.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu   +23 more
wiley   +1 more source

Heidenhain Disease: Challenging Diagnosis of a Creutzfeldt-Jakob Variant. [PDF]

open access: yesCureus
Brambilla RS   +4 more
europepmc   +1 more source

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

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2320-2330, October 2026.
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

Gabapentinoids‐duloxetine combination therapy for chronic pain: A mechanism oriented rational to bridge theoretical knowledge and real life setting

open access: yesBritish Journal of Clinical Pharmacology, Volume 92, Issue 10, Page 3333-3353, October 2026.
Chronic pain represents a complex debilitating condition that extends beyond the protective function of physiological pain, often persisting as an independent disease entity. Chronic primary and secondary pain syndromes reflect a multifaceted continuum involving nociceptive, neuropathic and nociplastic mechanisms.
Stefania Nobili   +6 more
wiley   +1 more source

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