Search results for "WEC"

Autism spectrum disorders in children affected by Duchenne muscular dystrophy

2018

Background Duchenne muscular dystrophy (DMD) is the most frequent and severe form of the dystrophinopathies. The literature shows that about 30-40% of DMD subjects have intellectual disability. In males with Duchenne muscular dystrophy, neuropsychiatric disorders have also been observed: attention deficit disorder and hyperactivity, autism spectrum disorders, and obsessive-compulsive disorder. Duchenne muscular dystrophy is not just a muscle disorder, but also a disease that affects the brain. The aim of the present study was to describe a case series of children with Duchenne muscular dystrophy that have also the presence of autism spectrum disorders (ASDs). They have been assessed by mean…

Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations

2017

IF 3.326; International audience; Kabuki syndrome (KS-OMIM 147920) is a rare developmental disease characterized by the association of multiple congenital anomalies and intellectual disability. This study aimed to investigate intellectual performance in children with KS and link the performance to several clinical features and molecular data. We recruited 31 children with KMT2D mutations who were 6 to 16 years old. They all completed the Weschler Intelligence Scale for Children, fourth edition. We calculated all indexes: the Full Scale Intellectual Quotient (FSIQ), Verbal Comprehension Index (VCI), Perceptive Reasoning Index (PRI), Processing Speed Index (PSI), and Working Memory Index (WMI…

Structural validity of the Spanish Wechsler Intelligence Scale for Children–Fourth Edition in a large sample of Spanish children with attention-defic…

2018

The factorial structure of the WISC-IV for 859 Spanish children diagnosed with ADHD was examined. A bifactor model with the four factors first identified by Wechsler (2003a) was the best fit to the...

Fragile-X carrier females: evidence for a distinct psychopathological phenotype?

1996

The present study examined 35 mothers (29 premutation carriers) of children with fragile-X syndrome in measures of intelligence and psychiatric disorders by comparing them with two control groups: a) 30 mothers of children in the general population and b) 17 mothers of non-fra-X retarded children with autism. Premutation carriers had a higher frequency of affective disorders than mothers from the general population. Preliminary data indicate that normally intelligent premutation carriers of the fra-X genetic abnormality have a similar frequency of affective disorders (DSM-III-R criteria [APA, 1987]) than mothers of autistic children. Neither carriers of the premutation nor carriers of the f…

Greater maintenance of bone mineral content in male than female athletes and in sprinting and jumping than endurance athletes: a longitudinal study o…

2020

Abstract Summary We investigated longitudinal changes in tibia bone strength in master power (jumping and sprinting) and endurance (distance) athletes of both sexes. Bone mass but not cross-sectional moment of inertia was better maintained in power than endurance athletes over time, particularly in men and independent of changes in performance. Objective Assessment of effects of sex and athletic discipline (lower limb power events, e.g. sprint running and jumping versus endurance running events) on longitudinal changes in bone strength in masters athletes. Methods We examined tibia and fibula bone properties at distal (4% distal-proximal tibia length) and proximal (66% length) sites using p…

Plectin-related scapuloperoneal myopathy with treatment-responsive myasthenic syndrome

2020

Predictors of neurocognitive impairment at 3years after a first episode non-affective psychosis

2013

Abstract Background Neurocognitive impairment is a core component of schizophrenia. However, patients show great variability in the level and course of deficits. The goal of the present longitudinal study was to identify predictors of neurocognitive impairment in first episode psychosis patients. Methods N eurocognitive performance was analyzed in a cohort of 146 patients 3 years after a first episode non-affective psychosis. Subgroups, impaired vs. unimpaired, were compared on baseline clinical, neuropsychological, premorbid and sociodemographic characteristics. Results Fifty-nine percent of participants presented general neurocognitive impairment and regression analyses demonstrated that …

Risk gene variants for nicotine dependence in the CHRNA5-CHRNA3-CHRNB4 cluster are associated with cognitive performance

2010

Recent studies strongly support an association of the nicotinic acetylcholine receptor gene cluster CHRNA5-CHRNA3-CHRNB4 with nicotine dependence (ND). However, the precise genotype-phenotype relationship is still unknown. Clinical and epidemiological data on smoking behavior raise the possibility that the relevant gene variants may indirectly contribute to the development of ND by affecting cognitive performance in some smokers who consume nicotine for reasons of "cognition enhancement." Here, we tested seven single nucleotide polymorphisms (SNPs) rs684513, rs637137, rs16969968, rs578776, rs1051730, rs3743078, rs3813567 from the CHRNA5-CHRNA3-CHRNB4 gene cluster for association with ND, me…

WAIS-IV Performance in Patients With Schizophrenia.

2019

Wechsler Adult Intelligence Scale (WAIS) is one of the most widely used instruments to measure cognitive functioning. The aims of this study were 1) to obtain the cognitive profile of Spanish patients with schizophrenia on the WAIS-IV; 2) to compare their profile to the profile of a healthy control group; and 3) to compare the cognitive profile of patients with schizophrenia to the performance observed in two separate previous studies in Canada and China. A sample of 99 outpatients and 99 healthy control participants, matched on age, sex, and educational level, were measured using the WAIS-IV, including 10 core subtests, 4 indices, and 2 general intelligence scores, to obtain their cognitiv…

Long-Term Outcome of Cognitive Impairment in Bipolar Disorder

2011

OBJECTIVE: To evaluate the longitudinal course and outcome of cognitive deficits and their clinical correlates in bipolar disorder. METHOD: One hundred thirteen participants (68 patients and 45 healthy controls) were assessed by the means of a neuropsychological battery targeting attention, psychomotor speed, verbal memory, and executive functions at baseline: 68 euthymic outpatients with a DSM-IV diagnosis of bipolar disorder (53 bipolar I and 15 bipolar II) were enrolled at the Bipolar Disorder Unit of the Hospital Clinic of Barcelona. Forty-five patients completed the follow-up. The assessments started in February 1999 and finished in July 2010. The primary outcome of the study was the c…