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Cognitive genomics: Searching for the genetic roots of neuropsychological functioning.

ABSTRACT: OBJECTIVE:Human cognition has long been known to be under substantial genetic control. With the complete mapping of the human genome, genome-wide association studies for many complex traits have proliferated; however, the highly polygenic nature of intelligence has made the identification of the precise genes that influence both global and specific cognitive abilities more difficult than anticipated. METHOD:Here, we review the latest developments in the genomics of cognition, including a discussion of methodological advances in the genetic analysis of complex traits, and shared genetic contributions to cognitive abilities and neuropsychiatric disorders. RESULTS:A wealth of twin and family studies have provided compelling evidence for a strong heritable component of both global and specific cognitive abilities, and for the existence of "generalist genes" responsible for a large portion of the variance in diverse cognitive abilities. Increasingly sophisticated analytic tools and ever-larger sample sizes are now facilitating the identification of specific genetic and molecular underpinnings of cognitive abilities, leading to optimism regarding possibilities for novel treatments for illnesses related to cognitive function. CONCLUSIONS:We conclude with a set of future directions for the field, which will further accelerate discoveries regarding the biological pathways relevant to cognitive abilities. These, in turn, may be further interrogated in order to link biological mechanisms to behavior. (PsycINFO Database Record

SUBMITTER: Bearden CE

PROVIDER: S-EPMC5791763 | biostudies-literature | 2017 Nov

REPOSITORIES: biostudies-literature

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Cognitive genomics: Searching for the genetic roots of neuropsychological functioning.

Bearden Carrie E CE Glahn David C DC

Neuropsychology 20171101 8

<h4>Objective</h4>Human cognition has long been known to be under substantial genetic control. With the complete mapping of the human genome, genome-wide association studies for many complex traits have proliferated; however, the highly polygenic nature of intelligence has made the identification of the precise genes that influence both global and specific cognitive abilities more difficult than anticipated.<h4>Method</h4>Here, we review the latest developments in the genomics of cognition, incl ...[more]

PMID: 29376674

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Project description:IntroductionIntact cognitive functioning is necessary for patients with chronic obstructive pulmonary disease (COPD) to understand the value of healthy lifestyle guidelines, to make informed decisions and subsequently act on it. Nevertheless, brain abnormalities and cognitive impairment have been found in patients with COPD. To date, it remains unknown which cognitive domains are affected and what the possible consequences are of cognitive impairment. Therefore, objectives of the study described are to determine neuropsychological functioning in patients with COPD, and its influence on health status, daily functioning and pulmonary rehabilitation outcome. Furthermore, structural and functional brain abnormalities and the relationship with cognitive and daily functioning will be explored.Methods and analysisA longitudinal observational comparative study will be performed in 183 patients with COPD referred for pulmonary rehabilitation and in 90 healthy control participants. Demographic and clinical characteristics, activities of daily living and knowledge about COPD will be assessed. Baseline cognitive functioning will be compared between patients and controls using a detailed neuropsychological testing battery. An MRI substudy will be performed to compare brain abnormalities between 35 patients with COPD with cognitive impairment and 35 patients with COPD without cognitive impairment. Patients will be recruited between November 2013 and November 2015.Ethics and disseminationThe study has been approved by the Medical Ethics Committee of the University Hospital Maastricht and Maastricht University (NL45127.068.13/METC 13-3-035) and is registered in the Dutch trial register. All participants will provide written informed consent and can withdraw from the study at any point in time. Assessment and home visit data material will be managed anonymously. The results obtained can be used to optimise patient-oriented treatment for cognitively impaired patients with COPD. The findings will be disseminated in international peer-reviewed journals and through research conferences.

Project description:ObjectiveThis longitudinal study examined whether preschool attention deficit hyperactivity disorder (ADHD) symptoms and neuropsychological functioning predicted trajectories of children's social functioning from age 3 to 4 through 12 years.MethodsThree- and four-year-old children (N = 208; 72.6% boys) were evaluated annually through age 12. Parent and teacher Attention Deficit/Hyperactivity Disorder Rating Scale, Fourth Edition responses during the initial evaluation were used to categorize preschoolers as "High" or "Low" risk for ADHD. Children's neuropsychological functioning was assessed using the NEPSY. Teachers' reports of children's social functioning were obtained annually from preschool through age 12 years using the Adaptability, Functional Communication, and Social Skills subscales of the Behavioral Assessment System for Children, Second Edition. Hierarchical linear modeling was used to assess the trajectories of social functioning and determine whether preschoolers' neuropsychological functioning and ADHD risk status predicted social functioning at age 12 years, and/or change in social functioning throughout childhood. All models controlled for baseline socioeconomic status.ResultsHigh Risk children had significantly lower teacher-rated Adaptability and Social Skills at age 12 years. High Risk children and those with lower Verbal neuropsychological functioning in preschool had lower teacher-rated Functional Communication at 12 years old. Lower preschool Verbal neuropsychological functioning predicted greater positive change in teacher-rated Functional Communication across childhood.ConclusionsEarly identification of and intervention for children exhibiting ADHD behaviors is critical given the enduring negative impact of these behaviors on social functioning. Screening preschoolers for verbal difficulties is encouraged given their long-term impact on children's ability to clearly express thoughts and feelings and obtain and provide information.

Project description:BACKGROUND:Despite early diagnosis and treatment, Classical Galactosemia (CG) patients frequently develop long-term complications, such as cognitive impairment. Available literature primarily reports on general intellectual abilities and shows a substantially lower Full Scale Intelligence Quotient (FSIQ) in CG patients than in the general population. Both problems in social functioning as well as internalizing problems are often reported in CG patients. The combination of intelligence, cognitive functioning, behavior and social functioning has not been studied systematically in CG patients. METHODS:To determine if CG patients demonstrate a specific neuropsychological and psychosocial profile, we investigated intelligence, functioning on multiple cognitive domains, behavior and social functioning with a comprehensive neuropsychological test battery and questionnaires (self- and proxy-reported). RESULTS:The data of 48 patients, aged 4-47?years are reported. FSIQ ranged from 45 to 103 (mean 77?±?14). A negative correlation between age and FSIQ was demonstrated (p?=?0.037) which resulted directly from the inclusion of four young 'milder' patients detected by newborn screening (NBS) with an expected better clinical outcome. Compared to normative data, patients had significantly lower but highly variable scores on all cognitive domains, especially on tests requiring mental speed. In the context of the FSIQ, 43% of the cognitive test results exceeded IQ based expectations. Overall, the patients' scores on social functioning were in the normal range but internalizing problems were frequently reported. In our cohort, an early initiation of dietary treatment due to NBS or family screening did not result in a more favorable neuropsychological outcome. CONCLUSIONS:In this study, we demonstrated that as a cohort, CG patients have a below average intelligence and impaired cognitive functioning without a distinctive neuropsychological profile. The effect of age on neurocognitive functioning should be assessed in longitudinal studies. Social functioning was not impaired, but patients may be at risk for internalizing problems. Considering the large variability in cognitive, behavioral and social functioning and the finding that cognitive outcomes may exceed IQ based expectations, an individual evaluation and follow-up is warranted in all CG patients to ensure timely support if needed.

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Cognitive genomics: Searching for the genetic roots of neuropsychological functioning.

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Cognitive genomics: Searching for the genetic roots of neuropsychological functioning.

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