Article

Is autism an autoimmune disease?

Department of Internal Medicine, Division of Rheumatology, and UC Davis M.I.N.D. Institute, University of California, Davis, CA 95616, USA.
Autoimmunity Reviews (Impact Factor: 7.1). 12/2004; 3(7-8):557-62. DOI: 10.1016/j.autrev.2004.07.036
Source: PubMed

ABSTRACT Autism spectrum disorder (ASD) is a spectrum of behavioral anomalies characterized by impaired social interaction and communication, often accompanied by repetitive and stereotyped behavior. The condition manifests within the first 3 years of life and persists into adulthood. There are numerous hypotheses regarding the etiology and pathology of ASD, including a suggested role for immune dysfunction. However, to date, the evidence for involvement of the immune system in autism has been inconclusive. While immune system abnormalities have been reported in children with autistic disorder, there is little consensus regarding the nature of these differences which include both enhanced autoimmunity and reduced immune function. In this review, we discuss current findings with respect to immune function and the spectrum of autoimmune phenomena described in children with ASD.

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Available from: Judy Van de Water, Aug 25, 2015
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    • "Autism spectrum disorders are characterized by language impairment, restricted interests, stereotypic motor behaviors, hyperactivity, sensory disturbances and self injury [7]. It is also associated with seizure disorder [8], gastrointestinal disturbances [9] and autoimmune disorders in some patients [10]. The methylene tetrahydrofolate reductase (MTHFR) gene codes for an essential enzyme in folate metabolism. "
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    ABSTRACT: Classical autism belongs to a group of heterogeneous neurobehavioral disorders known as autism spectrum disorders (ASDs) characterized by abnormalities in social interaction, impaired communication, and repetitive stereotypic behaviors. Overall, there is an increased risk of ASDs associated with common mutations affecting the folate/methylation cycle. This study aimed at identification of the C677T polymorphic genotypes of MTHFR gene among the Egyptian children with autism and to correlate them with different phenotypes.
    Egyptian Journal of Medical Human Genetics 06/2014; 15(4). DOI:10.1016/j.ejmhg.2014.05.004
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    • "The morbidity we examined was selected for its possible relation with ASD as described in the literature (Ashwood and Van de Water 2004; Cohly and Panja 2005; Gillott and Standen 2007; Jyonouchi et al. 2008; Krakowiak et al. 2008; Simonoff et al. 2008; Sterling et al. 2008; Sukhodolsky et al. 2008), such as problems in pregnancy (preeclampsia; eclampsia; premature birth; apgar score), feeding problems and crybaby (colic). Premature birth is defined as birt before the 37th week of pregnancy (Goldenberg et al. 2008). "
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    ABSTRACT: It takes considerable time before Autism Spectrum Disorders are diagnosed. Validated diagnostic instruments are available, but not applicable to primary healthcare. By means of a case-control study we investigated whether there were differences in presented complaints and referral patterns between children with ASD (n = 49) and a control group of children without ASD (n = 81). Children with ASD were often presented as crybabies and often showed feeding problems. They visited the GP's surgery more often with anxiety disorders, enuresis, and sleeping disorders. They were referred more often to physiotherapists and speech-therapists and had tympanostomy tubes and tonsillectomies more often. Depression in the parents of children with ASD was remarkably prevalent.
    Journal of Autism and Developmental Disorders 10/2011; 42(8):1531-8. DOI:10.1007/s10803-011-1384-9 · 3.06 Impact Factor
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    • "Immune dysregulation has been noted among individuals with an autism spectrum disorder and their family members (Ashwood et al., 2006). This includes inflammation in the central nervous system (CNS) and gastrointestinal tract (Ashwood et al., 2004; Vargas et al., 2005), as well as differences in system-wide humoral and cellular immunity (Ashwood et al., 2006; Pardo et al., 2005). There are several reports of altered IgG and cytokine levels in subjects with an autism spectrum disorder compared to typically developing children (Ashwood et al., 2008a,b; Enstrom et al., 2009a; Grigorenko et al., 2008; Heuer et al., 2008). "
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    ABSTRACT: Autism is a heterogeneous disorder with a poorly understood biological basis. Some children with autism harbor plasma autoantibodies that target brain proteins. Similarly, some mothers of children with autism produce antibodies specific to autism that target pairs of fetal brain proteins at 37/73 and 39/73 kDa. We explored the relationship between the presence of brain-specific autoantibodies and several behavioral characteristics of autism in 277 children with an autism spectrum disorder and 189 typically developing age-matched controls. Further, we used maternal autoantibody data to investigate potential familial relationships for the production of brain-directed autoantibodies. We demonstrated by Western blot that autoantibodies specific for a 45 kDa cerebellar protein in children were associated with a diagnosis of autism (p=0.017) while autoantibodies directed towards a 62 kDa protein were associated with the broader diagnosis of autism spectrum disorder (ASD) (p=0.043). Children with such autoantibodies had lower adaptive (p=0.0008) and cognitive function (p=0.005), as well as increased aberrant behaviors (p<0.05) compared to children without these antibodies. No correlation was noted for those mothers with the most specific pattern of anti-fetal brain autoantibodies and children with the autoantibodies to either the 45 or 62 kDa bands. Collectively, these data suggest that antibodies towards brain proteins in children are associated with lower adaptive and cognitive function as well as core behaviors associated with autism. It is unclear whether these antibodies have direct pathologic significance, or if they are merely a response to previous injury. Future studies are needed to determine the identities of the protein targets and explore their significance in autism.
    Brain Behavior and Immunity 03/2011; 25(3):514-23. DOI:10.1016/j.bbi.2010.11.017 · 6.13 Impact Factor
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