Browsing by Subject "Neurodevelopment"

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  • Yu, Yoshihiko; Creighton, Erica K.; Buckley, Reuben M.; Lyons, Leslie A.; Buckley, Reuben M.; Aberdein, Danielle; Alves, Paulo C.; Barsh, Gregory S.; Bellone, Rebecca R.; Bergström, Tomas F.; Boyko, Adam R.; Brockman, Jeffrey A.; Casal, Margret L.; Castelhano, Marta G.; Distl, Ottmar; Dodman, Nicholas H.; Ellinwood, N. Matthew; Fogle, Jonathan E.; Forman, Oliver P.; Garrick, Dorian J.; Ginns, Edward I.; Häggström, Jens; Harvey, Robert J.; Hasegawa, Daisuke; Haase, Bianca; Helps, Christopher R.; Hernandez, Isabel; Hytönen, Marjo K.; Kaukonen, Maria; Kaelin, Christopher B.; Kosho, Tomoki; Leclerc, Emilie; Lear, Teri L.; Leeb, Tosso; Li, Ronald H.L.; Lohi, Hannes; Longeri, Maria; Magnuson, Mark A.; Malik, Richard; Mane, Shrinivasrao P.; Munday, John S.; Murphy, William J.; Pedersen, Niels C.; Peterson-Jones, Simon M.; Rothschild, Max F.; Rusbridge, Clare; Shapiro, Beth; Stern, Joshua A.; Swanson, William F.; Terio, Karen A.; Todhunter, Rory J.; Warren, Wesley C.; Wilcox, Elizabeth A.; Wildschutte, Julia H.; Yu, Yoshihiko; Lyons, Leslie A. (2020)
    An inherited neurologic syndrome in a family of mixed-breed Oriental cats has been characterized as forebrain commissural malformation, concurrent with ventriculomegaly and interhemispheric cysts. However, the genetic basis for this autosomal recessive syndrome in cats is unknown. Forty-three cats were genotyped on the Illumina Infinium Feline 63K iSelect DNA Array and used for analyses. Genome-wide association studies, including a sib-transmission disequilibrium test and a case-control association analysis, and homozygosity mapping, identified a critical region on cat chromosome A3. Short-read whole genome sequencing was completed for a cat trio segregating with the syndrome. A homozygous 7 bp deletion in growth differentiation factor 7 (GDF7) (c.221_227delGCCGCGC [p.Arg74Profs]) was identified in affected cats, by comparison to the 99 Lives Cat variant dataset, validated using Sanger sequencing and genotyped by fragment analyses. This variant was not identified in 192 unaffected cats in the 99 Lives dataset. The variant segregated concordantly in an extended pedigree. In mice, GDF7 mRNA is expressed within the roof plate when commissural axons initiate ventrally-directed growth. This finding emphasized the importance of GDF7 in the neurodevelopmental process in the mammalian brain. A genetic test can be developed for use by cat breeders to eradicate this variant.
  • Wegelius, Asko; Pankakoski, Maiju; Tomppo, Liisa; Lehto, Ulriika; Lonnqvist, Jouko; Suvisaari, Jaana; Paunio, Tiina; Hennah, William (2015)
    Pre- and perinatal environmental factors have been shown to increase schizophrenia risk particularly when combined with genetic liability. The investigation of specific gene environment interactions in the etiology of psychiatric disorders has gained momentum. We used multivariate GEE regression modeling to investigate the interaction between genes of the DISCI pathway and birth weight, in relation to schizophrenia susceptibility in a Finnish schizophrenia family cohort. The study sample consisted of 457 subjects with both genotype and birth weight information. Gender and place of birth were adjusted for in the models. We found a significant interaction between birth weight and two NDE1 markers in relation to increased schizophrenia risk: a four SNP haplotype spanning NDE1 (b = 1.26, SE= 0.5, p = 0.012) and one of its constituent SNPs rs4781678 (b = 1.33, SE = 0.51, p = 0.010). Specifically, high birth weight (> 4000 g) was associated with increased schizophrenia risk among subjects homozygous for the previously identified risk alleles. The study was based on a family study sample with high genetic loading for schizophrenia and thus our findings cannot directly be generalized as representing the general population. Our results suggest that the functions mediated by NDE1 during the early stages of neurodevelopment are susceptible to the additional disruptive effects of pre- and perinatal environmental factors associated with high birth weight, augmenting schizophrenia susceptibility. (C) 2015 The Authors. Published by Elsevier Ireland Ltd.
  • Malm, Heli; Artama, Miia; Brown, Alan S.; Gissler, Mika; Gyllenberg, David; Hinkka-Yli-Salomaki, Susanna; McKeague, Ian; Sourander, Andre (2012)
  • Tuovinen, Soile; Lahti-Pulkkinen, Marius; Rantalainen, Ville; Kajantie, Eero; Räikkönen, Katri (2020)
    Maternal mental health problems during pregnancy, especially mood and anxiety disorders and symptoms, are common. They not only hinder maternal well-being and health during pregnancy but also are associated with physical and mental health adversities in the offspring. We provide here a review of the studies published between 2017 and 2019, which reported on the associations between maternal mental health problems during pregnancy and child neurocognitive outcomes. We identified eight studies, which reported a mixed pattern of findings. While the balance of evidence favors lack of associations, small sample sizes and heterogeneity in study designs, exposures, outcomes, and covariate adjustments between the studies preclude firm conclusions. The reviewed studies encourage further research filling in the knowledge gaps we identified.
  • Hautala, Sini; Tokariev, Anton; Roienko, Oleksii; Häyrinen, Taru; Ilen, Elina; Haataja, Leena; Vanhatalo, Sampsa (2021)
    Objective: To develop methods for recording and analysing infant's proximal muscle activations. Methods: Surface electromyography (sEMG) of truncal muscles was recorded in three months old infants (N = 18) during spontaneous movement and controlled postural changes. The infants were also divided into two groups according to motor performance. We developed an efficient method for removing dynamic cardiac artefacts to allow i) accurate estimation of individual muscle activations, as well as ii) quantitative characterization of muscle networks. Results: The automated removal of cardiac artefacts allowed quantitation of truncal muscle activity, which showed predictable effects during postural changes, and there were differences between high and low performing infants. The muscle networks showed consistent change in network density during spontaneous movements between supine and prone position. Moreover, activity correlations in individual pairs of back muscles linked to infant́s motor performance. Conclusions: The hereby developed sEMG analysis methodology is feasible and may disclose differences between high and low performing infants. Analysis of the muscle networks may provide novel insight to central control of motility. Significance: Quantitative analysis of infant's muscle activity and muscle networks holds promise for an objective neurodevelopmental assessment of motor system.
  • Ahtola, Eero; Stjerna, Susanna; Tokariev, Anton; Vanhatalo, Sampsa (2020)
    Objective To characterize cortical networks activated by patterned visual stimuli in infants, and to evaluate their potential for assessment of visual processing and their associations with neurocognitive development. Methods Three visual stimuli, orientation reversal (OR), global form (GF), and global motion (GM), were presented to cohort of five-month-old infants (N=26). Eye tracker was used to guide the stimulation and to choose epochs for analysis. Visual responses were recorded with electroencephalography and analysed in source space using weighted phase lag index as the connectivity measure. The networks were quantified using several metrics that were compared between stimuli and correlated to cognitive outcomes. Results Responses to OR/GF/GM stimuli were observed in nearly all (96/100/100%) recordings. All stimuli recruited cortical networks that were significantly different in their properties. The more complex GF and GM conditions recruited wider global networks than OR. Additionally, strength of the GF network showed positive association with later cognitive performance. Conclusions Network analysis suggests that visual stimulation recruits vast cortical networks extending far beyond the conventional visual streams and differ between stimulation conditions. Significance The method allows controlled recruitment of wide cortical networks, which holds promise for the early assessment of visual processing and its related higher-order cognitive processes.