To estimate the phenotypic differences between CNV carriers and non-carriers regarding general health and well-being, we compared the impact of SNPD-associated CNVs on health, cognition, and socioeconomic phenotypes to the impact of three genome-wide polygenic risk score (PRS) in two Finnish ...
The 1q21.1 distal CNV has a known large effect on head circumference, as evident from a high prevalence of micro- and macrocephaly in deletion and duplication carriers, respectively19,20,21. This, along with its position in a region that is rich in genes unique to the human lineage (i.e...
ASD in particular are characterised by deficits in social interaction, communication difficulty and the presence of restricted, repetitive and stereotyped patterns of behaviour [1]. However, individual autistic patients often have features of other NDD, as well as comorbidities, such as epilepsy and ...
By combining this analysis with whole genome sequence data in the same individuals, we also explored the role of compound heterozygosity. Results: Here we describe 541 inherited CNV regions, of which 268 are rare in a control population of European origin but present in a ...
by amyloid-β aggregation. Objective: Since neurodegenerative processes begin several years before clinical symptoms, epilepsy could be more frequent in the presymptomatic stages of dementia. Methods: We retrospectively reviewed the prevalence of epilepsy of unknown origin with adult onset before cognitive ...
Schizophrenia is mainly characterized by relapsing episodes of psychosis; however, occurring symptoms can be divided into two main categories: positive and negative symptoms. Positive symptoms include vari- ous types of hallucinations and delusions. In turn, negative symptoms include social withdrawal, ...
Table 2 The comparison of schizophrenia-associated CNVlociaccording to “Schizophrenia-associated genomic copy number variants and subcortical brain volumes in the UK Biobank” [20] and “Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects” [65]. Only...
[7,8]. Thus, for the purpose of this review, we will equate sociability tosocial cognition, which is a more general term dedicated to humans, usually used in the diagnosis and which can be defined as the study of the ability to process, store and apply information about other people and...
This is further supported by analyses showing that some sequence variants confer risk of both ADHD and ASD9,10 and the two disorders share considerable common variant genetic overlap11. Heritability estimates suggest that ~74% of the phenotypic variability in ADHD is due to variants in the ...
The recent rise in pregablin deaths partly coincides with an increase in the number of people prescribed the drug. In the UK alone, there were8.4 million prescriptionsfor pregabalin in 2022. This is up from 5.5 million in 2016. This might suggest that more support needs to be provided to ...