Foetal testosterone and autistic traits Simon Baron-Cohen Cambridge University Autism Research Centre Collaborators Psychology and Brain Scanning Sally Wheelwright, Johnny Lawson, Nigel Goldenfeld, Jen Richler, Jen Connellan, Anna Bakti, Carrie Allison, Ed Bullmore, Howard Ring, Xavier Chitnis Hormones Gerald Hackett, Kevin Taylor, Rebecca Knickmeyer, Bonnie Auyeung, Emma Chapman, Svetlana Lutchmaya, Melissa Hines, Why the foetal androgen theory? Autism sex ratio (4: 1); Asperger Syndrome (9:1) Male foetuses produce twice as much testosterone and individual differences are 20-fold Testosterone has organizational effects on brain development “The autistic personality is an extreme variant of male intelligence” (Hans Asperger, 1944) Sex differences in the human brain Males > Females INAH (interstitial nuclei of the anterior hypothalamus) Amygdala Planum parietale Planum temporale Females > Males BST (bed nucleus of the stria terminalis, hypothalamus) Corpus callosum Anterior commissure From Hines 2003 Spontaneous Toy Choice vehicles, constructional Dolls, emotional stories Hines 2003 Spontaneous toy choice: monkeys Alexander and Hines 2002 maths, computing, physics, engineering, tool-making Primary school teaching, counselling SAT-Maths 1972-97 Empathizing and Systemizing Empathizing (E) The drive to identify another person’s thoughts and feelings and respond to these with an appropriate emotion Systemizing (S) The drive to analyse a system, or to build a system Mechanical, abstract, natural, collectible sarcastic stern suspicious x sd dispirited Female Male AS 22.1 (2.0) 19.5 (2.6) 16.6 (2.9) JCPP 1997 Intuitive Physics Test Males 28.0 (10.9) Females 16.2 (9.3) AS 16.3 (3.1) Controls 10.3 (2.8) JADD, 2004 Int J. Learning Dis, 2001 Attention to detail: Prerequisite for systemizing Females 66.7 (36.7) Males 46.2 (20.5) JCN, 1997 AS 32.2 (27.0) EFT > males fMRI studies: females Embedded Figures Test Eyes Test Brain and Cog (2006) Genetics: Embedded Figures Test Males Females x 46.2 66.7 sd 20.5 36.7 AS Fathers Mothers 32.2 32.8 48.6 27.0 17.7 31.8 JCN, 1997 Genetics: Eyes Test Males Females AS x 19.5 22.1 16.6 sd 2.6 2.0 2.9 Fathers Mothers 17.3 18.9 1.6 2.1 sarcastic stern suspicious dispirited JCN, JCPP (1997) Innate sex differences? Infant Behavior and Dev (2000) Boys Girls Face 25 36 Mobile 43 17 Equal 32 47 A window into foetal testosterone: amniocentesis Injection of FT masculinizes female rat brain and behaviour Produced by testes and adrenal glands, crosses blood brain barrier Binds to androgen receptors in cytoplasm, modulates serotonin and GABA, and prevents apoptosis 3 surges in T levels Hines (2003) Follow-up studies 12-19 weeks gestation: amnio 12-24 months: eye contact, vocab 48 months: social relationships 8 yrs: empathy, systemizing embedded figures test autistic traits Mean number of eye contact episodes over 20 min. 26 24 Looking up at the face during a 10 minute play session 22 20 18 16 14 12 male female Eye contact at 12m Infant Behav. & Dev. 2002 320 300 280 Which of these words does your child know and produce? 260 240 220 200 180 160 Mean vocabulary sizemale female SEX Vocabulary size at 24m Infant Behav. & Dev. 2002 Feeling sorry bored interested joking Hidden ‘tent’ figure Embedded Figures Test at 8 years old Auyeung et al, submitted Find the target shape as quickly as you can The Child AQ (Autism Spectrum Quotient) My child prefers to do things with others rather than on his/her own. My child prefers to do things the same way over and over again. My child frequently gets so strongly absorbed in one thing that s/he loses sight of other things. FT and autistic traits (AQ) 46 to 50 41 to 45 36 to 40 31 to 35 26 to 30 21 to 25 16 to 20 11 to 15 6 to 10 0 to 5 % of subjects 35 30 25 20 15 AS/HFA Controls 10 5 0 JADD, 2001 Auyeung et al, submitted Other clues for the foetal androgen theory of autism Timing of puberty Early puberty in boys with autism (Tordjeman et al, 1997); delayed menarche in women with AS, and their mothers (Ingudomnukul et al, 2007) Lower 2D:4D ratio in autism, AS, sibs and parents (Manning et al 2001) Congenital Adrenal Hyperplasia and AQ CAH females Typical males Unaffected sisters 18.4 18.8 16.0 (Knickmeyer et al, 2006) (5.5) (6.2) (4.3) Conclusions Foetal testosterone is associated with psychological sex differences Autism spectrum conditions may fit an extreme of the typical male brain Testosterone, and the genes that control it, may be important in autism For more information www.autismresearchcentre.com Thanks to: The Nancy Lurie Marks Foundation Medical Research Council UK Target Autism Genome My child would worry about how another child would feel if they weren’t invited to a party My child gets upset at seeing others crying or in pain FT and empathy (EQ) at 8 yrs Social Neurosci 2006 My child likes to collect things My child is interested in different types of vehicles FT and systemizing at 8 yrs Euro J Endocrin 2006 The Eyes Test: Eyesbrain Task activity bilateral inferior frontal SSQ ratio Average SSQ ratio, by group, in Eyes task (4 group trend) 0.08 0.07 0.06 0.05 0.04 0.03 0.02 0.01 0 Fem ales Left MTG Left DLPFC Males Mothers Fathers Group Brain and Cog (2006) EFT Embedded Figures Test: brain activity left fusiform & visual cortex Average SSQ ratio, by group, in Embedded Figures task (4 group trend) 0.3 red: left SSQ ratio blue: right visual cortex 0.25 0.2 Le ft vi sua l corte x Ri g ht vi sua l corte 0.15 0.1 0.05 0 Fem ales Males Mothers Fathers Group Brain and Cog (2006) Grandfathers’ occupations Engineering (%) Social Work (%) Autism 21.2 0.5 Downs 10.0 2.5 Autism, 1997 Pathways in testosterone synthesis