The Phenotypic Profile Associated With the FMR1 Premutation in Women: An Investigation of Clinical-Behavioral, Social-Cognitive, and Executive Abilities

The FMR1 gene in its premutation (PM) state has been linked to a range of clinical and subclinical phenotypes among FMR1 PM carriers, including some subclinical traits associated with autism spectrum disorder (ASD). This study attempted to further characterize the phenotypic profile associated with the FMR1 PM by studying a battery of assessments examining clinical-behavioral traits, social-cognitive, and executive abilities in women carrying the FMR1 PM, and associations with FMR1-related variability. Participants included 152 female FMR1 PM carriers and 75 female controls who were similar in age and IQ, and screened for neuromotor impairments or signs of fragile X-associated tremor/ataxia syndrome. The phenotypic battery included assessments of ASD-related personality and language (i.e., pragmatic) traits, symptoms of anxiety and depression, four different social-cognitive tasks that tapped the ability to read internal states and emotions based on different cues (e.g., facial expressions, biological motion, and complex social scenes), and a measure of executive function. Results revealed a complex phenotypic profile among the PM carrier group, where subtle differences were observed in pragmatic language, executive function, and social-cognitive tasks that involved evaluating basic emotions and trustworthiness. The PM carrier group also showed elevated rates of ASD-related personality traits. In contrast, PM carriers performed similarly to controls on social-cognitive tasks that involved reliance on faces and biological motion. The PM group did not differ from controls on self-reported depression or anxiety symptoms. Using latent profile analysis, we observed three distinct subgroups of PM carriers who varied considerably in their performance across tasks. Among PM carriers, CGG repeat length was a significant predictor of pragmatic language violations. Results suggest a nuanced phenotypic profile characterized by subtle differences in select clinical-behavioral, social-cognitive, and executive abilities associated with the FMR1 PM in women.

Brainstem substructures and cognition in prodromal Alzheimer’s disease

Neuropathological research suggests the tau pathology of Alzheimer’s disease may originate in brainstem nuclei, yet it remains unknown whether tau-mediated degeneration of brainstem nuclei influences cognitive impairment in prodromal Alzheimer’s disease. The present study examined cognitive domains impacted in prodromal Alzheimer’s disease and brainstem substructure volume in cognitively normal older adults (n = 814) and those with mild cognitive impairment (n = 542). Subsamples of cognitively normal (n = 112) and mild cognitive impairment (n = 202) also had cerebrospinal fluid Alzheimer’s disease biomarker characterization. Region-of-interest and voxel-level analyses related whole brainstem, midbrain, pons, and locus coeruleus volumes to cognition with multiple linear regression models corrected for age, sex, education, apolipoprotein-ε4 carrier status, and MRI magnet strength. Within mild cognitive impairment participants, smaller midbrain and locus coeruleus volumes were significantly related to poorer performance on tests of attention and executive function, and the relationship between locus coeruleus volume and executive abilities remained significant in the mild cognitive impairment subsample with biomarker-confirmed Alzheimer’s disease. A brainstem-masked voxel-wise regression further demonstrated an association between locus coeruleus volume and executive abilities. Brainstem volumes were not significantly related to memory processes. Study findings implicate midbrain and locus coeruleus volume in attention and executive deficits in mild cognitive impairment. Together with prior neuropathological studies, our data suggest a link between Alzheimer’s disease-related degeneration of brainstem nuclei and cognitive deficits in prodromal Alzheimer’s disease.

Children with deficit in executive abilities have risk for emerging weakness in grammar understanding

Background Children with specific language impairment have difficulties producing and understanding language (Bishop, 1997). Specifically, these children have deficit in grammar understanding. The goal of this research was to examine the hypothesis that children at the age of 5-6 with deficit in executive abilities have a risk for emerging weakness in grammar understanding at the age of 8-9. Methods 136 children at the age of 5-6 were assessed using 5 subtests from NEPSY (Tower, Auditory Attention and Response Set, Visual Attention, Statue, Design Fluency), which are designed to assess executive abilities in children. We have revealed 27 children with deficit in executive abilities. These children were included in the experimental group. The control group included 27 children with no deficit in executive abilities. In the framework of longitudinal research children at the age of 8-9 from both groups were assessed by Grammar Understanding Test from Luria's neuropsychological assessment technique. Results One-way ANOVA has revealed significant differences (p<.05) between groups for scores in Grammar Understanding Test. Children from experimental group had low level of grammar understanding. Conclusions This research has shown that deficit in executive abilities can predict the delay in development of grammar understanding in children. These results provided insight into cognitive mechanisms in typically developing and the underlying nature of specific language impairments, helping to elucidate the nature of impaired mechanism in this disorder. It can be assumed that deficit in executive abilities is one of the risk factors for emerging weakness in grammar understanding in children. Key messages Deficit in executive abilities is one of the risk factors for emerging weakness in grammar understanding in children. There is relationship between grammar understanding and executive abilities in children.

A-150 Motor Sequencing Training Improved Executive Abilities in a Boy with Rolandic Epilepsy

Objective It is known that children with epilepsy can have deficit in neurocognitive abilities. It is of great significance to receive the evidence for efficiency of different treatments that are aimed to help children with epilepsy. The goal of this study was to reveal the impact of 12 weeks of motor sequencing training on the executive abilities in a child with Rolandic epilepsy. Methods The child is 7 year old boy. The neuropsychological assessment of child has revealed the mild deficit in executive abilities. Child participated in 12 weeks of motor sequencing training. A total of 36 therapy sessions lasting 50 minutes were performed.This therapy trains the child to plan, sequence and process information more effectively through repetition of goal-directed movements. This programme is built on the conceptual framework derived from the work of Luria’s theory of restoration of neurocognitive functions (Luria, 1963, 1974). Results Neuropsychological assessment (NEPSY) of child after the intervention period has revealed apparent progress in performance of 4 subtests which are designed to assess executive abilities and attention (Tower, Auditory Attention and Response Set, Visual Attention, Statue). Conclusion According to result of this case report it can be assumed that motor sequencing training can be used as a prospective treatment approach for development of executive abilities in children with Rolandic epilepsy.

A-054 Deficit in Custained Attention in Children Born with Hypoxic-ischaemic Encephalopathy

Objective There are evidences that children, born with Hypoxic-ischaemic Encephalopathy (HIE), have a delay in the development of neurocognitive functions, specifically they have a deficit in executive abilities. Do they have global or specific deficit in executive abilities? The goal of this research was to examine the hypothesis that children, born with HIE, have a deficit in sustained attention. Methods The experimental group included 20 children aged 5-6 years (mean age = 5.7). They were born full-term with perinatal Hypoxic-ischaemic Encephalopathy. The control group included 20 typically developing children. The children from experimental and control group were matched for gender and age. Children from both groups were assessed with 4 subtests from NEPSY (Tower, Auditory Attention and Response Set, Visual Attention, Statue) which are designed to assess the executive abilities in children. Results One-way ANOVA has revealed group differences (p < .05) in two subtests from NEPSY. Children with perinatal HIE have shown the weaknesses in performing Auditory Attention and Response Set and Visual Attention subtest. We did not reveal the significant differences (p < .05) in performing Tower and Statue subtest. Conclusion In view of the obtained results it can be assumed that the Hypoxic-ischaemic Encephalopathy has a specific (not global) negative effect on the development of executive abilities, particularly children with perinatal HIE have a deficit in sustained attention at the age of 5-6 years.

A-154 Children with Hyperactive–Impulsive Disorder Benefit from Yoga Training

Objective It is known that children with hyperactive–impulsive disorder have deficit in executive abilities. The gaol of this study was to reveal effect of yoga training on executive abilities in 8–9 years of age children with hyperactive–impulsive disorder. We compared the efficacy of two methods of training (yoga training vs. conventional motor exercises) in a randomized controlled pilot study. Methods 18 children with hyperactive–impulsive disorder at the age of 8–9 years were included and randomly assigned to treatment conditions according to a 2 × 2 crossover design. Children from intervention group participated in 12 weeks of yoga training that included body-oriented activity and breathing exercises. To assess the executive functions we used 3 subtests from NEPSY (Auditory Attention and Response Set, Visual Attention, Statue). Effects of training were analyzed by means of an ANOVA for repeated measurements. Results The ANOVA has revealed (p < .05) that for all used subtests (Auditory Attention and Response Set, Visual Attention, Statue) the yoga training was superior to the conventional motor training, with effect sizes in the medium-to-high range (0.43–0.88). Conclusions The findings from this pilot study suggest that yoga training have positive effect on executive abilities in children with hyperactive–impulsive disorder. It influences predominantly the selective and sustained attention, inhibition, monitoring, and self-regulation. However, it is necessary to do further research into the impact of yoga exercises on the prevention and treatment of hyperactive–impulsive disorder in children.