Results 81 to 90 of about 109,677 (255)

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy   +16 more
wiley   +1 more source

Dysexecutive Syndrome in Schizophrenia: A Cross-Cultural Comparison between Japanese and British Patients

open access: yesBehavioural Neurology, 2000
This study tested the hypothesis that the dysexecutive syndrome of schizophrenia is impervious to cultural differences. 18 Japanese and 22 British patients and 14 Japanese and 19 British control subjects were compared on the BADS (Behavioural Assessment ...
H. Ihara, G. E. Berrios, P. J. McKenna
doaj   +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, 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

MENTAL AND PSYCHOMOTOR RETARDATION IN EARLY CHILDHOOD: Overview and development of a protocol for neuropsychological assessment.

open access: yesCuadernos de Neuropsicología, 2010
Introduction: The last decades have brought great advances in the understanding of child neurodevelopment and knowledge of cognitive processes that occur in the brain from an early age.
María del Mar Sánchez-Joya   +3 more
doaj  

Sleep Disturbances in Adults With Tuberous Sclerosis Complex: Influences of Treatment and Clinical Features

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Tuberous sclerosis complex (TSC) is a genetic condition with multisystem neurocutaneous signs, including hamartomas, epilepsy, and neuropsychological difficulties. Although sleep disorders are increasingly recognized in TSC, they remain poorly described in adults.
Kirstin A. Risgaard   +6 more
wiley   +1 more source

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

Multi-Faceted Assessment of Children with Selective Mutism: Challenges and Practical Suggestions

open access: yesBehavioral Sciences
The multi-faceted nature of Selective Mutism (SM), and its comorbidity with other disorders, necessitates a comprehensive assessment process. However, evaluating children with SM presents significant challenges, including difficulties in building rapport,
Maayan Shorer
doaj   +1 more source

Assessment of Genetic Correlations Between Tobacco or Alcohol Use and Neurodegenerative Diseases Using East Asian Genetic Ancestry Genome‐Wide Association Study Results

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Alzheimer's disease (AD) and Parkinson's disease (PD) are the most prevalent late‐onset neurodegenerative diseases worldwide. Both are influenced in part by genetic factors and are currently incurable. Tobacco and alcohol, the two most common substances used among the general adult population, are potential AD/PD risk factors and are also ...
Linda Wang   +3 more
wiley   +1 more source

An Update on New Approaches to Cognitive Assessment in Multiple Sclerosis

open access: yesNeuroSci
Accessible, dependable cognitive assessment is integral to patient care of people with multiple sclerosis (PwMS). Traditional neuropsychological tests are well validated in the multiple sclerosis (MS) population, but not without limitations, such as the ...
Jacob Balconi   +3 more
doaj   +1 more source

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