Autistic features in girls from a psychiatric sample are strongly associated with a low 2D:4D ratio

Erasmus Medical Center, Sophia Children's Hospital, Department of Child and Adolescent Psychiatry, Rotterdam, The Netherlands.
Autism (Impact Factor: 3.5). 09/2009; 13(5):511-21. DOI: 10.1177/1362361309335720
Source: PubMed


Autistic features such as deficits in social interactions and communication have been associated with a low 2D:4D ratio in normal children.This study assessed this association in a large sample of children with a variety of psychiatric disorders (n = 35 girls and n = 147 boys). Autistic features were assessed with a highly valid and reliable measure (Autism Diagnostic Observation Schedule-Generic). Correlations between the 2D:4D ratio and autistic features were computed separately for boys and girls. Some small negative correlations (r = -0.17 and r = -0.19) were found in the right hand for boys; however, particularly in girls, large negative correlations (r = -0.51 to r = -0.64) were found in the left hand. A low 2D:4D ratio in girls was highly predictive of the presence of autistic features. Thus, a low ratio could possibly be used as a diagnostic predictor in clinical practice.

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    • "Atypical levels of sex steroid hormones and their biosynthetic pathway have been associated with autism spectrum conditions (ASC) or associated with autistic traits in genetic [1-3], gene expression [4,5], serum [6,7], amniotic fluid [8] and 2D:4D ratio of 2nd digit to 4th digit [9] studies. Elevated levels of prenatal androgens such as fetal testosterone (FT) during a critical period are hypothesized to contribute to the etiology of ASC [10] as FT shapes neurological development [11-13]. "
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    ABSTRACT: Prenatal exposure to increased androgens has been implicated in both polycystic ovary syndrome (PCOS) and autism spectrum conditions (ASC), suggesting that PCOS may be increased among women with ASC. One study suggested elevated steroidopathic symptoms ('steroidopathy') in women with ASC. As the symptoms are not independent, we conducted a latent class analysis (LCA). The objectives of the current study are: (1) to test if these findings replicate in a larger sample; and (2) to use LCA to uncover affected clusters of women with ASC. We tested two groups of women, screened using the Autism Spectrum Quotient - Group 1: n = 415 women with ASC (mean age 36.39 +/- 11.98 years); and Group 2: n = 415 controls (mean age 39.96 +/- 11.92 years). All participants completed the Testosterone-related Medical Questionnaire online. A multiple-group LCA was used to identify differences in latent class structure between women with ASC and controls. There were significant differences in frequency of steroid-related conditions and symptoms between women with ASC and controls. A two-class semi-constrained model best fit the data. Based on response patterns, we identified the classes as 'Typical' and 'Steroidopathic'. The prevalence of the 'Steroidopathic' class was significantly increased within the ASC group (DeltaG2 = 15, df =1, P = 0.0001). In particular, we confirmed higher frequencies of epilepsy, amenorrhea, dysmenorrhea, severe acne, gender dysphoria, and transsexualism, and differences in sexual preference in women with ASC. Women with ASC are at increased risk for symptoms and conditions linked to steroids. LCA revealed this steroidopathy despite the apparent underdiagnosis of PCOS.
    Molecular Autism 04/2014; 5(1):27. DOI:10.1186/2040-2392-5-27 · 5.41 Impact Factor
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    • "Children with ASD and also children with ADHD/ODD have significantly lower 2D : 4D ratios than controls [50]. The correlation is very strong when comparing autistic girls to unaffected girls [51]. Handedness is also tied to the 2D : 4D ratio [52], and in utero androgen exposure has long been believed to predispose to left-handedness. "
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    ABSTRACT: It has been postulated that androgen overexposure in a susceptible person leads to excessive brain masculinization and the autism spectrum disorder (ASD) phenotype. In this study, the responses to estradiol (E2), dihydrotestosterone (DHT), and dichlorodiphenyldichloroethylene (DDE) on B-lymphocytes from ASD subjects and controls are compared. B cells were obtained from 11 ASD subjects, their unaffected fraternal twins, and nontwin siblings. Controls were obtained from a different cell bank. Lactate dehydrogenase (LDH) and sodium 2,3-bis(2-methoxy-4-nitro-5-sulfophenyl)-2H-tetrazolium-5-carboxanilide (XTT) reduction levels were measured after incubation with different concentrations of E2, DHT, and DDE. XTT/LDH ratio, representative of mitochondria number per cell, was calculated. E2, DHT, and DDE all cause "U"-shaped growth curves, as measured by LDH levels. ASD B cells show less growth depression compared to siblings and controls (P < 0.01). They also have reduced XTT/LDH ratios (P < 0.01) when compared to external controls, whereas siblings had values of XTT/LDH between ASD and external controls. B-lymphocytes from people with ASD exhibit a differential response to E2, DHT, and hormone disruptors in regard to cell growth and mitochondrial upregulation when compared to non-ASD siblings and external controls. Specifically, ASD B-lymphocytes show significantly less growth depression and less mitochondrial upregulation when exposed to these effectors. A mitochondrial deficit in ASD individuals is implied.
    Journal of Toxicology 11/2013; 2013(11):159810. DOI:10.1155/2013/159810
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    • "? 0.956 Ϯ 0.043 bf -0.51 De Bruin et al. [2009] 26 9.1 Ϯ 2.0 100 0 0.944 Ϯ 0.038 ef 86 9.1 Ϯ 1.9 100 0.958 Ϯ 0.034 ef -0.45 h 26 9.1 Ϯ 2.0 100 0 0.939 Ϯ 0.037 eg 86 9.1 Ϯ 1.9 100 0.956 Ϯ 0.034 eg Falter et al. [2008] 28 12.7 96 54 0.974 bg 28 12.8 96 0.975 bg 0.03 ch 28 12.7 96 54 0.969 bf 28 12.8 96 0.968 bf a Dominant hand. b Direct measurement. "
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    ABSTRACT: Prenatal testosterone (PT) effects have been proposed to increase systemizing (the drive to understand lawful input-output relationships), to decrease empathizing (the drive to understand others), and to cause autism via hypermasculinization of the brain. Digit ratio 2D:4D is a putative marker of PT effects in humans. An online study (n = 1896) into the relationship between the Reading the Mind in the Eyes Test (a widely used measure of empathizing) and self-measured 2D:4D in a nonclinical sample is reported. No evidence for a link between empathizing and 2D:4D in either females or males emerged. Further, three meta-analyses are presented that look into the relationships of 2D:4D with autism spectrum disorder (ASD), systemizing, and empathizing. 2D:4D was substantially lower (more masculine) in ASD-affected individuals than in normal controls (d = -0.58, P < 0.001). However, 2D:4D was found to be virtually unrelated to systemizing and empathizing in normal adults. The results support the idea that high PT is a risk factor for autism, but they challenge the view that PT substantially contributes to sex differences in systemizing and empathizing. Possibly, this pattern reflects an interaction effect, whereby PT drives ASD characteristic changes only in brains with a specific damage.
    Autism Research 08/2012; 5(4):221-30. DOI:10.1002/aur.1230 · 4.33 Impact Factor
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