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Endophenotypes of autism spectrum disorder
1. So you can diagnose an autism spectrum disorder. But is that enough? Possible endophenotypes of autism spectrum Digby Tantam
2. Proposed DSM-V criteria for ASD Must meet criteria A, B, C, and D: A. Persistent deficits in social communication and social interaction across contexts, not accounted for by general developmental delays, and manifest by all 3 of the following: 1. Deficits in social-emotional reciprocity; ranging from abnormal social approach and failure of normal back and forth conversation through reduced sharing of interests, emotions, and affect and response to total lack of initiation of social interaction, 2. Deficits in nonverbal communicative behaviors used for social interaction; ranging from poorly integrated- verbal and nonverbal communication, through abnormalities in eye contact and body-language, or deficits in understanding and use of nonverbal communication, to total lack of facial expression or gestures. 3. Deficits in developing and maintaining relationships, appropriate to developmental level (beyond those with caregivers); ranging from difficulties adjusting behavior to suit different social contexts through difficulties in sharing imaginative play and in making friends to an apparent absence of interest in people
3. Proposed DSM-V criteria for ASD Must meet criteria A, B, C, and D: A. Persistent deficits in social communication and social interaction across contexts, not accounted for by general developmental delays, and manifest by all 3 of the following: 1. Social-emotional reciprocity (mechanics of social interaction) 2. Nonverbal communication 3. Developing and maintaining relationships
4. Proposed DSM-V criteria for ASD Must meet criteria A, B, C, and D: A. Persistent deficits in social communication and social interaction across contexts, not accounted for by general developmental delays, and manifest by all 3 of the following: 1. Social-emotional reciprocity (mechanics of social interaction) 2. Nonverbal communication 3. Developing and maintaining relationships Nonverbal impairment Deficits in social-emotional reciprocity (‘rules’ of social interaction) Possible impairment in social relationship formation
5. What changes from DSM-IV Merging of AS with ASD and disintegrative disorder Lamented by Aspies Disintegrative disorder is progressive Disappearance of Rett syndrome Probably heralds separation of syndrome and aetiology, which is welcome Possible increase in age criterion May raise later confusion with schizophrenia (again) Disappearance of the triad Lamented by Wing, Gould, and Gillberg(Research Autism paper) because of Falck-Ytter who argue that social interaction and But still mixing primary impaired in social interaction with its effects in social relationship Verbal communication disappears Some Aspies think it reduces possible of Autism Spectrum Condition
7. Scanpaths complex: mouths not always chosen over eyes, other factors e.g. eye aversion, need to disambiguate language
8. Proposed DSM-V criteria for ASD Must meet criteria A, B, C, and D: A. Persistent deficits in social communication and social interaction across contexts, not accounted for by general developmental delays, and manifest by all 3 of the following: 1. Social-emotional reciprocity (mechanics of social interaction) 2. Nonverbal communication 3. Developing and maintaining relationships Nonverbal impairment modulated by anxiety? Deficits in social-emotional reciprocity (‘rules’ of social interaction) modulated by context? Possible impairment in social relationship formation
9. Proposed DSM-V criteria for ASD (cont) Must meet criteria A, B, C, and D: B. 1. Stereotyped or repetitive speech, motor movements, or use of objects; (such as simple motor stereotypies, echolalia, repetitive use of objects, or idiosyncratic phrases). 2. Excessive adherence to routines, ritualized patterns of verbal or nonverbal behavior, or excessive resistance to change; (such as motoric rituals, insistence on same route or food, repetitive questioning or extreme distress at small changes). 3. Highly restricted, fixated interests that are abnormal in intensity or focus; (such as strong attachment to or preoccupation with unusual objects, excessively circumscribed or perseverative interests). 4. Hyper-or hypo-reactivity to sensory input or unusual interest in sensory aspects of environment; (such as apparent indifference to pain/heat/cold, adverse response to specific sounds or textures, excessive smelling or touching of objects, fascination with lights or spinning objects). C. Symptoms must be present in early childhood (but may not become fully manifest until social demands exceed limited capacities) D. Symptoms together limit and impair everyday functioning.
10. Proposed DSM-V criteria for ASD (cont) Must meet criteria A, B, C, and D: B. Stereotypies No more common than in ID. Link with social isolation. Dopamine mediated. Non-specific? Routines, rituals OCD, Most common absence in PDD-NOS. Anxiety-related Special interests Attention, but also with satisfaction, and cognitive phenotype Linked with clumsiness Hyper-or hypo-reactivity to sensory input Identity ? But may be absent C. Symptoms must be present in early childhood (but may not become fully manifest until social demands exceed limited capacities) D. Symptoms together limit and impair everyday functioning.
11. Major remaining problem Heterogeneous syndrome Geared to categorical diagnosis (good for services) but not to dimensional approach Dimensions, cognitive phenotypes, are more useful for advice and remediation Dimensions, endophenotypes, are likely to be more important in genetic studies
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13. “Here, we report that quantitative trait analyses of ASD symptoms combined with case-control association analyses using distinct ASD subphenotypes identified on the basis of symptomatic profiles result in the identification of highly significant associations with 18 novel single nucleotide polymorphisms (SNPs). The symptom categories included deficits in language usage, non-verbal communication, social development, and play skills, as well as insistence on sameness or ritualistic behaviors” Hu, V. W., Addington, A., & Hyman, A. (2011). Novel autism subtype-dependent genetic variants are revealed by quantitative trait and subphenotype association analyses of published GWAS data. PLoS ONE, 6(4), e19067.
14. “We present evidence from our own twin studies, and review relevant literature on autism and autistic-like traits in other groups. We suggest that largely independent genes may operate on social skills/impairments, communication abilities, and RRBIs, requiring a change in molecular-genetic research approaches”. Happe, F., & Ronald, A. (2008). The 'Fractionable Autism Triad': A Review of Evidence from Behavioural, Genetic, Cognitive and Neural Research. [Article]. Neuropsychology Review, 18(4), 287-304.
17. Tantam, Cordess, HolmesTotal amount of gazing, controls=people with ASBut gaze plus some other happening on the face of another person was different
18. Tantam, D. Characterizing the fundamental social handicap in autism. ActaPaedopsychiatrica, 55, 83-91, 1991 Gaze reflex 1 Focus on eyes (but means suppression of agonistic response) Gaze reflex 2 Follow other’s gaze to its destination
21. Tantam, D. Characterizing the fundamental social handicap in autism. ActaPaedopsychiatrica, 55, 83-91, 1991 Gaze reflex 1 Focus on eyes (but means suppression of agonistic response) Gaze reflex 2 Follow other’s gaze to its destination Gaze reflex 3 Follow direction of other’s gaze back to their eyes to detect their expression
23. CONCLUSIONS: This study provides preliminary evidence of impaired neural connectivity in the corpus callosum/cingulum and temporal lobes involving the inferior longitudinal fasciculus/inferior fronto-occipital fasciculus and superior longitudinal fasciculus in ASDs. These findings provide preliminary support for aberrant neural connectivity between the amygdala, fusiform face area, and superior temporal sulcus-temporal lobe structures critical for normal social perception and cognition. Jou, R. J., Jackowski, A. P., Papademetris, X., Rajeevan, N., Staib, L. H., & Volkmar, F. R. (2010). Diffusion tensor imaging in autism spectrum disorders: preliminary evidence of abnormal neural connectivity. Australian And New Zealand Journal Of Psychiatry, 45(2), 153-162
24. Chiu, P. H., Kayali, M. A., Kishida, K. T., Tomlin, D., Klinger, L. G., Klinger, M. R., et al. (2008). Self responses along cingulate cortex reveal quantitative neural phenotype for high-functioning autism. Neuron, 57(3), 463-473.
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26. “Attributing behavioral outcomes correctly to oneself or to other agents is essential for all productive social exchange. We approach this issue in high-functioning males with autism spectrum disorder (ASD) using two separate fMRI paradigms. First, using a visual imagery task, we extract a basis set for responses along the cingulate cortex of control subjects that reveals an agent-specific eigenvector (self eigenmode) associated with imagining oneself executing a specific motor act. Second, we show that the same self eigenmode arises during one's own decision (the self phase) in an interpersonal exchange game (iterated trust game). Third, using this exchange game, we show that ASD males exhibit a severely diminished cingulate self response when playing the game with a human partner. This diminishment covaries parametrically with their behaviorally assessed symptom severity, suggesting its value as an objective endophenotype. These findings may provide a quantitative assessment tool for high-functioning ASD.” Chiu et al, 2008
27. Gaze reflex 1 and 2 provide training in where to look and facilitate focussed social development
28. People with AS lack gaze reflex 1 or at least look at geometric shapes preferentially (Pierce) do not attribute animation to shapes, do not treat machines as people
29. Schippers, M. B., Roebroeck, A., Renken, R., Nanetti, L., & Keysers, C. (2010). Mapping the information flow from one brain to another during gestural communication. Proceedings of the National Academy of Sciences, -.
31. Learning to look at the right things But this may represent requirement to disambiguate language: mouth looking is more common in some children and some cultures Mouth looking may be more common in people with SLI, and not in people with ASD
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33. The Wright brothers Synchrony Armies, churches, organizations, and communities often engage in activities for example, marching, singing, and dancing that lead group members to act in synchrony with each other.….Across three experiments, people acting in synchrony with others cooperated more in subsequent group economic exercises, even in situations requiring personal sacrifice. Our results also showed that positive emotions need not be generated for synchrony to foster cooperation. In total, the results suggest that acting in synchrony with others can increase cooperation by strengthening social attachment among group members Wiltermuth and Heath, 2009, Psychological Science
36. I am looking at what you are looking at, and we both know that Each of us is paying attention to it. So we have the same things on our mind: Our mental contents are shared
37. How do we know who has high social status? Pride They attract looks
38. Not something I have to think about, or send a particular Message. So unlike speaking: more like just being connected ‘The interbrain’
40. Palinkas, LA, Suedfeld, P Psychological effects of polar expeditions. Lancet 2008; 371: 153-63.
41. Who is Jake? Look him up in the brain index: the cache of all the information about experiences with Jake
42. Superior temporal cortex and PFC network in gaze shifting: Nummanmaa et al Figure 2. Brain regions showing positive change in coupling with the right pSTS (red to yellow) and FG (blue to turquoise) while viewing gaze shifts versus opening/closing the eyes. Areas that showed a change in coupling with both FG and pSTS are shown in green. Mean coordinates of the pSTS and FG source regions used in the connectivity analyses are shown as red and blue spheres, respectively. Maps are thresholdedatP < 0.005, unc. for visual inspection, and the color bars denote the Tstatistic range. FEF, frontal eye field; FG, fusiform gyrus; IPS, intraparietal sulcus; MFG, middle frontal gyrus; SMG, supramarginal gyrus; STG, superior temporal gyrus; pSTS, superior temporal sulcus.
43. Looking at the right things Inferring things from other’s gaze direction
44. Falling prevalence of ASD in boys and men based on community survey of Sheffield city (pop. 400 000) N=124
45. Falling prevalence of ASD in boys and men based on community survey of Sheffield city (pop. 400 000) N=124 Secondary peak of fathers?
46. Exposure to social situation? Mimicry? Evidence of drama? ABA? Esp gaze direction Teach people to look Teach people to control odd behaviour
48. Stereotypies are an indication of intellectual disability, as is the poverty or complexity of interests
49. Endophenotypes within non-verbal impairment With dyspraxia (is this the nonverbal element?) VIQ>PIQ ‘Typical’ Asperger syndrome More ‘temporal’ With impaired narrative ability and possibly other SLI (is this the social interaction element) PIQ>VIQ ‘Atypical AS’ or PDD-NOS More ‘frontal’ Association with ADHD
50. Typical Asperger syndrome: NV expressive impairment Unusual manner, gives immediate impression of idiosyncrasy due to impaired nonverbal expressiveness Makes contact on own terms May discuss unusual or particular interests Problems with unexpected or unclear situations 19/08/2011
53. Associations with ‘typical’ ASD Clumsiness Topographical disorientation Unusual deployment of attention on environment: seeing the trees, not the word Sociolinguistic impairment: concrete language, failure to understand some humour (puns OK) Catastrophic reaction to social demand, e.g. conflict, loud noise, change Problems in making friends
54. Treatment methods for typical ASD ABA and other methods of capturing engagement may work in children Remedial gymnastics has effect on social difficulties? Mimicry (but not imitation) e.g drama therapy
55. Atypical Asperger syndrome: a new clinical syndrome and linked to impaired social interaction? Primary abnormality is impaired social interpretation May be conspicuous lack of a theory of mind Lack of internal narrative Ability to make relationships but not to keep them May be behavioural problems (‘pathological demand avoidance’) Lack of persuasiveness and ‘social influencing power’
56. The language of the eyes Who is being shot? Terrorists or partisans?
57. Empathy disorders Psychopathy in which there may be: An impairment of response to threat expressions A turning off of normal empathic responsiveness Autistic spectrum disorders An impairment in the response to all nonverbal expression, with a consequent reduction in emotional responsiveness
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59. Cognitive and affective empathy Fifty-two boys (25 aggressive and 27 non-aggressive) were compared for levels of aggression and for cognitive and affective empathy as expressed during a group interview involving bibliotherapy. Aggressive boys showed half the level of affective empathy as non-aggressive boys, although the groups did not differ in cognitive empathy Study of cognitive and affective empathy in aggressive boys(Schechtman, Z. (2002) Cognitive and affective empathy in aggressive boys: implications for counselling. International Journal for the Advancement of Counselling, 24, 211-. Although both groups can appear uncaring, our findings suggest that the affective/information processing correlates of psychopathic tendencies and ASD are quite different. Psychopathic tendencies are associated with difficulties in resonating with other people’s distress, whereas ASD is characterised by difficulties in knowing what other people think JONES, A. P., HAPPÉ, F. G. E., GILBERT, F., BURNETT, S. & VIDING, E. 2010. Feeling, caring, knowing: different types of empathy deficit in boys with psychopathic tendencies and autism spectrum disorder. Journal of Child Psychology and Psychiatry, 51, 1188-1197 4 July 07 10th. European Congress of Psychology
60. Aggression and empathy Increased perspective taking reduces aggression (Richardson et al, 1994,Empathy as a cognitive inhibitor of interpersonal aggression. Aggressive Behaviour, 20, 276-289) Secondary inhibition (Feshbach and Feshbach, 1969) results from seeing the fear (Blair) or disgust (Nichol) in the other and acts to mitigate aggression (de Paul et al, 2006, Aggression inhibition in high- and low-risk subjects for child physical abuse: effects of a child’s hostile intent and the presence of mitigating information, Aggressive Behaviour, 32, 216-230 Actress Janet Leigh from the shower scene in Hitchcock's Psycho
61. Narrative coherence Inability to hold up against persuasion: A lack of an internal narrative “I could have done that” Acceptance of strongest narrative, or authority’s narrative, of most recently repeated narrative Link with theory of mind Bright-Paul, A., C. Jarrold, et al. (2008). Autobiographical memory Bruck, M., K. London, et al. (2007) www.existentialacademy.com 61
62. Coping with a lack of identity Fads ‘Obsessive’ relationships Lack of identity in many people with ASD Adopting identity wholesale Joining charismatic groups Moving places and work Searching for identity ‘Transexualism’ ‘Aspie’ Identities off the peg Gangster Professor Teddy bear 2 Nov 2010 Seeing the light – or ticking the box?
63. Other endophenotypes that may be more common in atypical ASD Dyslexia Speech and language impairment, with reduced understanding of speech Dysexecutive syndrome The consequence of ADHD?
67. A particularly wide ranging tool kit Readiness to consider the most intense emotional issues and in the next moment, the most practical and cognitive ones Having a clear grasp of the individual in front of you, not just in life experience, or temperament, but in cognitive abilities Be aware of shame and shaming The limitless potential of social control by shaming Seeing the light – or ticking the box?
68. Contributors Sheffield survey Myles Balfe Ting Chen Mike Campbell submitted to Autism Bullying project Paul Naylor Jenny Wainscot Jenna Williams 15 medical students International Journal of Psychology Parents, teachers, and people with Asperger syndrome Sheffield Asperger Parents Action Group Seeing the light – or ticking the box?
69. Consequences of bullying Passive failure to be included Reduced use of community resources (social exclusion) Experience of being unwanted/marginalized Active rejection , blaming, scapegoating Stigma as a means of keeping threatening Other at a distance Bullying Painted Bird by Edward Gafford, inspired by the novel ‘Painted Bird’ by JerzyKosiński, itself based on what has been claimed is a fictive war-time experience of the author in Poland
70. Does social exclusion lead to functional movement impairment Is there a difference in the amount of physical activity of pupils with AS compared to others? Mean number of steps per hour: AS group = 902, control group = 1312 (t= -2.645, p = .027) Seeing the light – or ticking the box?
71. Where were people with AS in Sheffield? Most living at home, even above 30. Most had difficulties coping with changes in everyday environments Difficulties moving between places (for example using public transport) Most common places frequented were libraries and cinemas Seeing the light – or ticking the box?
72. Bullied pupils and those with SEN report feeling unhappier and have less commitment to school than pupils who are not bullied and have no SEN. For pupils with SEN or no identified SEN, the risk of being bullied declines by approximately 9 per cent each chronological year. Pupils bullied in Year 9 (13-14-year-olds) are much more likely to drop out of school at Year 11 (15-16-year-olds) than those who were not bullied. This trend is even more pronounced for pupils with SEN. Prevalence of bullying in secondary school by SEN type: Analysis of combined NPD and LSYPE data files. Naylor, P., Dawson, J., Emerson, E., and Tantam, D. (2011) N=15 770 13-14 year olds in mainstream school
73. Factors that might influence empathy suppression by people with AS Lack of emotional empathy Neurotypicals are united, and do not deserve empathy Uproar Lack of a shared social contract: ‘dissociation’ Lack of social influencing power Seeing the light – or ticking the box?
74. Abuse How many people with ASD have been abused? Difficult to establish but possibly a significant no. Suspicion should be raised by deterioration in behaviour, sexual disinhibition, regression Interviewing may be unreliable as people with ASD may not have a clear cut conception of abuse or even of sexually inappropriate behaviour People with ASD may feel that sexual favours are a fair exchange for social contact Need institutional policies for monitoring Friday, 19 August 2011 Lunch-time meeting, Brandon Unit, Leicester
75. Relationships Not being attractive (more often in heterosexual men) Being empathic Being too compliant (more often in women or some homosexual men) Not being able to sustain relationship Knowing what someone wants without them saying Anxiety about failing in relationships May find images or masturbation more attractive than actual people Unreciprocated attraction Stalking Sexual threatening behaviour Inappropriate sexual touching May flip into aggression towards sexually attractive others Abusive/ inappropriate/intimidating relationships Coercive sexuality Friday, 19 August 2011 Lunch-time meeting, Brandon Unit, Leicester
76. Medication for psychiatric disorder Changing circumstances esp power and influence Post aggression feedback Identification of mounting tension Prevention of reinforcement
77. Dealing with lack of empathy Prevention of exploitation Modelling Empathy training?
80. Emotional problems in adolescents and adults with Asperger syndrome(findings from Sheffield survey) Self-harm: thoughts 50%, actual 11% Violence: threats 83%, actual 34% Bullied 90%, 30% currently (includes adults) Majority have anxiety-related disorder
81. Empathy disorders Psychopathy in which there may be: An impairment of response to threat expressions A turning off of normal empathic responsiveness Autistic spectrum disorders An impairment in the response to all nonverbal expression, with a consequent reduction in emotional responsiveness 4 July 07 10th. European Congress of Psychology
83. Aggression and empathy Increased perspective taking reduces aggression (Richardson et al, 1994,Empathy as a cognitive inhibitor of interpersonal aggression. Aggressive Behaviour, 20, 276-289) Secondary inhibition (Feshbach and Feshbach, 1969) results from seeing the fear (Blair) or disgust (Nichol) in the other and acts to mitigate aggression (de Paul et al, 2006, Aggression inhibition in high- and low-risk subjects for child physical abuse: effects of a child’s hostile intent and the presence of mitigating information, Aggressive Behaviour, 32, 216-230 Actress Janet Leigh from the shower scene in Hitchcock's Psycho
84. Cognitive and affective empathy Fifty-two boys (25 aggressive and 27 non-aggressive) were compared for levels of aggression and for cognitive and affective empathy as expressed during a group interview involving bibliotherapy. Aggressive boys showed half the level of affective empathy as non-aggressive boys, although the groups did not differ in cognitive empathy Study of cognitive and affective empathy in aggressive boys(Schechtman, Z. (2002) Cognitive and affective empathy in aggressive boys: implications for counselling. International Journal for the Advancement of Counselling, 24, 211-. Although both groups can appear uncaring, our findings suggest that the affective/information processing correlates of psychopathic tendencies and ASD are quite different. Psychopathic tendencies are associated with difficulties in resonating with other people’s distress, whereas ASD is characterised by difficulties in knowing what other people think JONES, A. P., HAPPÉ, F. G. E., GILBERT, F., BURNETT, S. & VIDING, E. 2010. Feeling, caring, knowing: different types of empathy deficit in boys with psychopathic tendencies and autism spectrum disorder. Journal of Child Psychology and Psychiatry, 51, 1188-1197
85. Does empathy lead to violence, either through an increase in aggression or a reduction in violence inhibition? Correlational studies link low empathy and increased aggression Empathy ‘mitigates aggression’ (Bjorkqvist, Osterman, & Kaukiainen, 2000) But aggressive two year-olds may actually show more empathy than non-aggressive two years olds (Gill & Calkins, 2003) Distinction between affective and cognitive empathy? 4 July 07 10th. European Congress of Psychology
87. Indicators of violent reoffending: the new OASys Violence PredictorPhilip Howard, Senior Research OfficerJackie Seaton, Senior Probation OfficeOffender Assessment and Management UnitNOMS, Ministry of Justice for England and Wales Sections 1-12 1: offending information [criminal history] 2: [current] offence analysis 3: accommodation 4: education, training and employability 5: financial management and income 6: relationships 7: lifestyle and associates 8: drug misuse 9: alcohol misuse
88. Friday, 19 August 2011 Lunch-time meeting, Brandon Unit, Leicester What motivates aggression in AS? Doing the right thing Being accepted, perhaps in a deviant group Utilization behaviour Effort at communication Catastrophic reaction Asserting dominance Modelling Tension relief Hypomania, depression "This is my son” 4 year old artist from Art Gallery on OASIS home page
90. Psychological disorders associated with AS(many of these disorders probably greater in more able group) 2 ‘Attachment disorder’ (disorganized in ADHD) 7 Polymorphous anxiety: encopresis, checking, sleep disturbance, ‘shyness’ 11-13 Surge of anxiety-related problems including OCD, dysmorphophobia, panic disorder 16-18 Secondary depression, social phobia >16 Progressive social withdrawal often attributed to schizophrenia Late adolescence bipolar disorder Brief ‘cycloid’ psychoses Non-psychotic hallucinoses >18 ‘Catatonia’ >25 Paranoid states >35 Social withdrawal, isolation, relationship disrepair
92. Friday, 19 August 2011 Lunch-time meeting, Brandon Unit, Leicester Grief May be absent or delayed May be more for places or times than people Grieving over lost childhood is common Reflected in interests In wanting to be with younger people Ruminations Ruminations also serve to put past right Lack of emotional as opposed to cognitive coping
93. Owen Thor Walker Home schooled from aged 13 because of bullying, provided code to cyber crime syndicate that took £10.3M from private bank accounts (he got £15,500 in payment for botnet code). New Zealand judge did not impose a custodial sentence because of the effect on his career, but fined him £5000. Subsequently hired by TelstraClear, a telecomms company, to act as security consultant
96. That’s as far as we go, folks So, thanks for listening
Notes de l'éditeur
1) Endophenotypes must be reliable and stable traits (reliability and stability).2) Endophenotypes must show evidence of genetic influences (heritability).3) Endophenotypes must be associated with the behavioural trait or disease of interest (phenotypic correlation).4) The association between endophenotype and trait of interest must derive partly from the same genetic source (genetic correlation).5) The association between the endophenotype and the trait of interest must be theoretically meaningful (causality). Gottesman & Gould, 2003 (see attached) developed more specific criteria for endophenotypes for psychopathology: 1. The endophenotype is associated with illness in the population.2. The endophenotype is heritable.3. The endophenotype is primarily state-independent (manifests in an individual whether or not illness is active).4. Within families, endophenotype and illness co-segregate.5. The endophenotype found in affected family members is found in nonaffected family members at a higher rate than in the general population. In terms of genetic influences, all of the above means that:- Endophenotypes must show evidence of genetic influences (heritability). This doesn’t imply they should be 100% heritable, but there should be evidence that they are at least partly influenced by genes (e.g. based on findings from twin/adoption or family studies).- The genetic influences on the endophenotype should (partly) overlap with the genetic influences on the condition of interest. In the current study, it is thought that the genetic influences on the (reduced) brain response to happy faces may tell us something about the genetic vulnerability for autism as a clinical condition. Once again, these genetic influences don’t have to have 100% penetrance.- It is hoped that the endophenotype is a more reliable/stable trait that may be easier to measure than the complex behavioural phenotype of autism (see criteria 1 de Geus). If the endophenotype can be measured more reliably (i.e. less measurement error), and it is a less complex trait, the idea is that the endophenotype may be influenced by less genes, and you would thus increase the power to detect the genes involved. Of course the latter is a hypothesis: It may be that very many genes are involved in the brain response to happy faces. It may also be that this response is not so reliable after all (do we know anything about test-retest reliability of this measure?).- Mikes important study gives a first clue that ‘response to happy faces’ could be a promising endophenotype for autism. Further studies (including reliability studies, and ideally some twin studies to explore the heritability of the endophenotype) should evaluate whether the measure truly passes the test for a good endophenotype. Of course the true litmus test would be a molecular genetic study using the measure.
Anatomy lesson of Dr. Tulp
Jennie Pyers and a colleague
Bright-Paul, A., C. Jarrold, et al. (2008). "Theory-of-Mind Development Influences Suggestibility and Source Monitoring. [Article]." Developmental Psychology44(4): 1055-1068. According to the mental-state reasoning model of suggestibility, 2 components of theory of mind mediate reductions in suggestibility across the preschool years. The authors examined whether theory-of-mind performance may be legitimately separated into 2 components and explored the memory processes underlying the associations between theory of mind and suggestibility, independent of verbal ability. Children 3 to 6 years old completed 6 theory-of-mind tasks and a postevent misinformation procedure. Contrary to the model's prediction, a single latent theory-of-mind factor emerged, suggesting a single-component rather than a dual-component conceptualization of theory-of-mind performance. This factor provided statistical justification for computing a single composite theory-of-mind score. Improvements in theory of mind predicted reductions in suggestibility, independent of verbal ability (Study 1, n = 72). Furthermore, once attribution biases were controlled (Study 2, n = 45), there was also a positive relationship between theory of mind and source memory, but not recognition performance. The findings suggest a substantial, and possibly causal, association between theory-of-mind development and resistance to suggestion, driven specifically by improvements in source monitoring., (C) 2008 by the American Psychological Association Bruck, M., K. London, et al. (2007). "Autobiographical memory and suggestibility in children with autism spectrum disorder." Dev.Psychopathol.19(1): 73-95. Two paradigms were developed to examine autobiographical memory (ABM) and suggestibility in children with autism spectrum disorder (ASD). Children with ASD (N = 30) and typically developing chronological age-matched children (N = 38) ranging in age from 5 to 10 years were administered an ABM questionnaire. Children were asked about details of current and past personally experienced events. Children also participated in a staged event, and later were provided with true and false reminders about that event. Later, children again were interviewed about the staged event. The results from both paradigms revealed that children with ASD showed poorer ABM compared to controls. Generally, their ABM was marked by errors of omission rather than by errors of commission, and memory was particularly poor for early-life events. In addition, they were as suggestible as the typically developing children. The results are discussed in terms of applied and theoretical implications
Thomas Hobbes the social contract
Lev Vygotsky with daughter: inner speech guides action. Inner speech is one way of understanding theory of mind: what a person would say if they were there. May be particularly absent in ADHD