Association of Family History of Autoimmune Diseases and Autism Spectrum Disorders

Atladóttir, Hjördís Ósk; Pedersen, Marianne Bruus; Thorsen, Poul; Mortensen, Preben Bo; Deleuran, Bent; Eaton, William W.; Parner, Erik Thorlund

doi:10.1542/peds.2008-2445

Cited by 359 publications

(279 citation statements)

References 36 publications

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“…Individual SNPs and haplotypes were tested for association with ASD. Additionally, the relationship between diabetes, autism and CD38 [70], as well as the use of CD38 as a disease marker [71], suggests that it would also be worthwhile to explore CD38 expression in immune cell lines derived from ASD patients. These considerations prompted us to measure CD38 gene expression in lymphoblastoid cell lines (LBC) derived from both ASD subjects and unaffected parents.…”

Section: Cd38 and Autism Spectrum Disordersmentioning

confidence: 99%

Are retinoids potential therapeutic agents in disorders of social cognition including autism?

et al. 2011

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Edited by Sergio Papa, Gianfranco Gilardi and Wilhelm JustKeywords: Autism spectrum disorder (ASD) All-trans retinoic acid (ATRA) CD38 Oxytocin Polymorphism a b s t r a c t Increasing evidence suggests that the nonapeptide, oxytocin (OT), helps shape social and affiliative behaviors not only in lower mammals but also in humans. Recently, an essential mediator of brain OT release has been discovered, ADP-ribosyl cyclase and/or CD38. We have subsequently shown that polymorphisms across the CD38 gene are associated with autism spectrum disorders (ASD). Notably, CD38 expression in lymphoblastoid cells (LBC) is reduced in cell lines derived from ASD subjects compared to parental cell lines. Intriguingly, a correlation was observed between CD38 expression and measures of social function in ASD. Finally, we have shown that all-trans retinoic acid (ATRA), a known inducer of CD38 transcription, can rescue low CD38 expressing LBC lines derived from ASD subjects and restore normal levels of transcription of this ectoenzyme providing 'proof of principle' in a peripheral model that retinoids are potential therapeutic agents in ASD. Ó 2011 Federation of European Biochemical Societies. Published by Elsevier B.V. All rights reserved. OxytocinClassically, the nonapeptide oxytocin (OT) has been viewed as a hypothalamic neuropeptide that is released into the general circulation from the neural lobe of the pituitary, inducing uterine contractions during parturition and milk ejection during lactation. OT is derived from a pre-prohormone precursor that is synthesized in the hypothalamus and stored in vesicles at the posterior pituitary for storage and subsequent release into the bloodstream (see [1] for comprehensive review of the oxytocin receptor system). OT and social behaviorBeyond the long-known peripheral effects of OT, a wealth of animal studies have elaborated the role of OT, or their analogues such as isotocin and vasotocin [2], in molding social behavior from fish to mammals [3]. In the past few years the role of OT has also been examined in our own species, and similar to what has been learned from animal studies, it appears that this nonapeptides also influence social behaviors in humans [4,5]. Indeed, OT has been suggested as the 'great facilitator of life' in a recent review [6].In humans, intranasal administration of OT has been shown to increase trust [7], facilitate mind-reading [8], enhance human memory for social identity [9], increase positive communication between couples [10], increase gaze to the eye region [11] and increase generosity [12]. Intriguingly, OT plasma levels have been linked to individual patterns of maternal-fetal attachment [13] and salivary OT levels were associated with bonding to own parents and inversely related to psychological distress, particularly depressive symptoms [14]. Social anxiety symptom severity, adjusted for age and gender in a healthy group of subjects, was associated with higher plasma oxytocin levels [15]. Imaging studies reinforce the role of OT in influencing human social ...

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Section: Cd38 and Autism Spectrum Disordersmentioning

confidence: 99%

Are retinoids potential therapeutic agents in disorders of social cognition including autism?

et al. 2011

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“…In seven of these studies, an association between familial autoimmunity and ASD was determined. In all but two of the studies, 2,3 however, the number of subjects was relatively small, and interpretation is compounded by the fairly low rate at which autoimmune diseases occur in the general population 4 ( Table 1). …”

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confidence: 99%

“…To date, the majority of studies have used self-reporting questionnaires, which are prone to inaccuracy and potential over-reporting. However, from a large populationbased study (nearly 700,000 participants) in which both the ASD diagnosis and family history of autoimmune disease were obtained from medical records and not from surveys, Atladóttir et al 2 found that some autoimmune disease were more common in parents of children with ASD. That study indicated increased rates of rheumatoid arthritis and celiac disease in mothers of children with ASD, and a higher rate of the autoimmune condition type 1 diabetes in both mothers and fathers.…”

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confidence: 99%

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Immune Dysfunction in Autism: A Pathway to Treatment

2010

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Summary: Autism is a complex and clinically heterogeneous disorder with a spectrum of symptoms. Clinicians, schools, and service agencies worldwide have reported a dramatic increase in the number of children identified with autism. Despite expanding research, the etiology and underlying biological processes of autism remain poorly understood, and the relative contribution from genetic, epigenetic, and environmental factors remains unclear. Although autism affects primarily brain function (especially affect, social functioning, and cognition), it is unknown to what extent other organs and systems are disrupted. Published findings have identified widespread changes in the immune systems of children with autism, at both systemic and cellular levels. Brain specimens from autism subjects exhibit signs of active, ongoing inflammation, as well as alterations in gene pathways associated with immune signaling and immune function. Moreover, many genetic studies have indicated a link between autism and genes that are relevant to both the nervous system and the immune system. Alterations in these pathways can affect function in both systems. Together, these reports suggest that autism may in fact be a systemic disorder with connections to abnormal immune responses. Such immune system dysfunction may represent novel targets for treatment. A better understanding of the involvement of the immune response in autism, and of how early brain development is altered, may have important therapeutic implications.

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“…12 Recent research on postnatal immune issues identify various serum antibodies, as well as cord blood neurotrophins and cytokine levels as potential factors. [12][13][14][15][16][17] Atladottir et al 18 found an increased risk of ASDs in children with a maternal history of rheumatoid arthritis and celiac disease. Also, increased risk of infantile autism was observed for chil-dren with a family history of type 1 diabetes.…”

Section: Part 1: Immune System and Autism: Defining The Relationshipmentioning

confidence: 99%

Immune Therapy in Autism: Historical Experience and Future Directions with Immunomodulatory Therapy

Chez

Guido-Estrada

2010

Neurotherapeutics

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Summary: Autism affects 1 in 110 new births, and it has no single etiology with uniform agreement. This has a significant impact on the quality of life for individuals who have been diagnosed with autism. Although autism has a spectrum quality with a shared diagnosis, it presents a uniquely different clinical appearance in each individual. Recent research of suspected immunological factors have provided more support for a probable immunological process or for processes that may play a role in the acquisition of an autistic condition. These factors include prenatal, genetic, and postnatal findings, as well as the discovery of a dysfunctional chronic pro-inflammatory state in brain tissue and cerebrospinal fluid in subsets of autistic patients. These findings offer new theories that may lead to the development of disease modification or preventative therapeutic options in the near future. This article reviews prenatal, genetic, and observed immune aspects of the autism condition that may be risk factors in the presentation of the autistic clinical phenotype. Historical immune interventions in autism are reviewed and potential new therapies and interventions are discussed.

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Association of Family History of Autoimmune Diseases and Autism Spectrum Disorders

Cited by 359 publications

References 36 publications

Are retinoids potential therapeutic agents in disorders of social cognition including autism?

Are retinoids potential therapeutic agents in disorders of social cognition including autism?

Immune Dysfunction in Autism: A Pathway to Treatment

Immune Therapy in Autism: Historical Experience and Future Directions with Immunomodulatory Therapy

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