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2 results

  • Associations between autistic-like traits and polymorphisms in NFKBIL1

  • Nina Strenn, Daniel Hovey, Lina Jonsson, Henrik Anckarsäter, Sebastian Lundström, Paul Lichtenstein, Agneta Ekman
  • Journal:
    Acta Neuropsychiatrica / Volume 31 / Issue 4 / August 2019
    Published online by Cambridge University Press:
    04 June 2019, pp. 220-229
  • Objective:

    The immune system has been suggested to be associated with neuropsychiatric disorders; for example, elevated levels of cytokines and the inflammation-related transcription factor nuclear factor kappa-B (NF-κB) have been reported in individuals with autism spectrum disorder (ASD). The aim of this study was to investigate possible associations between autistic-like traits (ALTs) and single nucleotide polymorphisms (SNPs) in NFKB1 (encoding a subunit of the NF-κB protein complex) and NF-κB inhibitor-like protein 1 (NFKBIL1).

    Methods:

    The study was conducted in a cohort from the general population: The Child and Adolescent Twin Study in Sweden (CATSS, n = 12 319, 9–12 years old). The subjects were assessed by the Autism-Tics, ADHD, and Other Comorbidities Inventory. Five SNPs within the two genes were genotyped (NFKBIL1: rs2857605, rs2239707, rs2230365 and rs2071592; NFKB1: rs4648022).

    Results:

    We found significant associations for two SNPs in NFKBIL1: rs2239707 showed a significant distribution of genotype frequencies in the case-control analysis both for all individuals combined and in boys only, and rs2230365 was significantly associated with the ALTs-module language impairment in boys only. Furthermore, we found nominal association in the case-control study for rs2230365, replicating earlier association between this SNP and ASD in an independent genome-wide association study.

    Conclusion:

    The shown associations between polymorphisms in NFKBIL1 and ALTs are supporting an influence of the immune system on neuropsychiatric symptoms.

  • 5 - Hemiplegic cerebral palsy

  • Edited by Patricia Howlin, St George's Hospital Medical School, University of London, Orlee Udwin, Mary Sheridan Centre for Child Health, London
  • Book:
    Outcomes in Neurodevelopmental and Genetic Disorders
    Published online:
    13 August 2009
    Print publication:
    25 July 2002, pp 112-135

  • Summary

    Cerebral palsy (CP) is the single largest cause of severe physical disability in childhood. The subclassification of CP is based on the type and distribution of motor problems. Spasticity - involving stiffness and weakness of affected muscles - is usually a dominant motor problem. Prematurity is an important risk factor for diplegic CP. Children with hemiplegic CP can be divided into two main groups: congenital hemiplegia and acquired hemiplegia. Many children with hemiplegic CP meet the diagnostic criteria of anxiety disorder. Autistic disorders such as infantile autism and Asperger syndrome affect around 3% of children with hemiplegic CP. Maudsley Hospital's Brain and Behaviour Clinic treated around 150 children with the psychological complications of hemiplegic CP. The London Hemiplegia Register (LHR) follow-up study of 18 to 25 year old with hemiplegic CP also assessed the psychosocial adjustment of the 81 individuals.