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Autism Spectrum Disorders incl. high functioning / AS From Descriptive Phenomenology across the life span to Clinical Risk Appraisal & SPJ Ekkehart F.A.

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Presentation on theme: "Autism Spectrum Disorders incl. high functioning / AS From Descriptive Phenomenology across the life span to Clinical Risk Appraisal & SPJ Ekkehart F.A."— Presentation transcript:


2 Autism Spectrum Disorders incl. high functioning / AS From Descriptive Phenomenology across the life span to Clinical Risk Appraisal & SPJ Ekkehart F.A. Staufenberg Consultant Forensic Neuropsychiatrist Sen. Lecturer (hon.), The Norwich School of Medicine, UEA Consultant in Epilepsy and Neuropsychiatry, Dept. Neurology, The Norwich Epilepsy Clinic Norfolk & Norwich University Hospital NHS FT

3 Overview Clinical Descriptive Phenomenology –Miss it or notice - depending on our clinical curiosity & alertness –Female v male behavioural phenotype Just a little neurobiology –emotional tone, cognitive style (e.g. Central Coherence), Executive Functions in all domains, incl. sensory integration, Mentalisation –chronological v neurodevelopmental maturational age epigenetic influences –Co-existing neuropsychiatric conditions –Personality development Clinical Risk Appraisal and SPJ in ASDs

4 Not addressing …. DSM V (?final version, Feb. 2012) v ICD11 (summer 2014?)

5 Clinical Descriptive Phenomenology ASD – HFA – AS What are we to take notice of? [adapted from J.Gould, 2009]

6 Triad of Qualitative Impairments Quality of Social Reciprocity including the Quality of Social Reciprocal Communication (verbal and / or non-verbal)* Quality of Imagination – Make Belief Quality of Repetitive Repertoire

7 Triad of Qualitative Impairments x3 Main Factor analysis based clusters within the ASD incl. HFA / AS spectrum PRESENT BY 3y – 4y (s.t. noticed at entry to play / primary school) ‘ ALOOF’ Probably smallest group, ?regularly misdiagnosed 1.Psychopathy 2.Schizophrenia simple type ‘ODD BUT ACTIVE’ – usually most noticeable Often known to Community Paeds, CAMH, Neuropsychiatry, ID service 1. Co-diagnoses of other conditions (ADHD, post-traumatisation) 2. BPD ‘WITHDRAWN’ 1.May present first time with very significant incident at time of major life change [usually with key carer] adapted from Wing & Gould (1978)

8 Triad of Qualitative Impairments Quality of Social Reciprocity *###*### Aloof, indifferent Passive Active but odd, bizarre Over-formal, stilted Sociable with few persons – vulnerable / difficulties within groups (* Kanner # Asperger)

9 Quality of Social Communication (verbal and / or non-verbal)* **###**### ~ No communication Communicates own needs Repetitive, one sided, circumscribed Formal, long-winded, literal (* Kanner # Asperger) Triad of Qualitative Impairments

10 Non-verbal expression in people with ASD ChannelLack of expression Altered expression VOICE prosody, monotone, staccato, soft / hard Idiosyncrasy in pitch, incongruous rhythm changes Little / inconsistent use (‘bring home a point’) Stare, avoidance, looking just past eyes of other person, mainly when speaking POSTURE Few/no shifts, little postural imitation Full face, odd, threatening, uncomfortable GESTURE May be normal – lack convergence / joint referencing Not linked to speech / gaze / posture FACIALAbsent – little – normal - amplified Grimacing cave: tics

11 Different manifestations: * Handles objects for simple sensations * Handles objects for practical uses # Copies pretend play of others # Limited “pretend” play; repetitive, isolated Invents own imaginary world – but usually stereotyped / rigid (* Kanner # Asperger Quality of Imagination / Make Belief Triad of Qualitative Impairments

12 Quality of Repetitive Repertoire **###**### Bodily movements Fascination with sensory stimuli Simple, object directed Routines involving objects Routines in space or time Verbal routines Routines related to special skills Intellectual interests (* Kanner # Asperger Triad of Qualitative Impairments

13 The resulting Triangle of Qualitative Social Impairment SOCIAL AND EMOTIONAL Difficulties with : Friendships Managing unstructured parts of day Working co-operatively LANGUAGE & COMMUNICATION Difficulty processing and retaining verbal information: Jokes and sarcasm Social use of language Literal / rote learning & interpretation Body language, facial expression & gesture FLEXIBILITY OF THOUGHT & IMAGINATION Difficulty with: Coping with changes in routines Empathy Generalisation

14 Key Concepts in Risk Appraisal in HFA / AS Neurocognitive Conceptualisation Mentalisation (ToM)/Language function Central Coherence Executive Fct.

15 Psychometric Profile Mentalisation –1 st Order Mentalisation (‘I think that you think / feel /experience ………….….’) –2 nd Order Mentalisation (‘I think that you think / feel / experience about me that …….’)

16 Executive Functions / Capacities Executive Functions involve: Volition Planning Purposive, goal-directed, intentional (adaptive) action Monitoring and Adaptation of emotional, social, psychological and motor behaviours

17 Central Coherence –denotes our Inherent Cognitive Style coherent –defined as: ‘... natural tendency in information processing, draw together and assimilate stimuli into coherent wholes’ (Frith & Happe, 1989) Key Concepts in Risk Appraisal in HFA / AS

18 Central Coherence & Risk Appraisal Weak CC (‘less integration / more fragmentation’) Strong CC (‘gist person - overview’) affects all cognitive & somato-sensory NB: affects all cognitive & somato-sensory domains domains? Key Concepts in Risk Appraisal in HFA / AS

19 Personality Traits & Disordered Development of Personality –externalisation, grudge bearing, vengeance, grandiosity, executive function, callous, feckless Mental Illnesses –Panic attacks, GAD, anxious attachment, depression –Cyclothymia / bipolar disorder –Schizophrenia Spectrum disorders Neuropsychiatric Disorders –ADHD; GTS; A.nervosa; OCD ASD non-inherent but co-existing psychological / neuropsychiatric / developmental psychopathology

20 ‘ Red Flags’ ‘Family resemblance’ approach (cluster analysis) to complex neurodevelopmental diagnoses –( E. Kraeplin, Eu.Bleuler, H. Eysenck, L. Wing, D. Tantam, F. Volkmer, T. Brugha, ICD11, our BCFS-East Anglia team) Family History of –ASD –Boundary ASD syndromes: dyslexia, dyspraxia, speech delay –OCD, A.Nervosa, Tic disorders –BPD (deLong, 1996, Staufenberg&Tantam, 1996) –Tuberose Sclerosis, Angelman S., LGS, LKS… RED FLAGS vary with chronological and neurodevelopmental age of patient examined (!!!)

21 ‘Red Flags’ Earliest baby - / childhood SIGNIFICANTLY identifies most ASDs from neurotypical and global developmental delay by 3-4y Joint Attention: Quality & frequency Bid for Attention: Quality & frequency (ADI-R; DISCO; AQ) Emotional Regulation:Quality, social context –Phase of Regression of functional skills in pre-school age –‘My son / daughter seemed to have lived in a world of his / her own’ –Delayed attention to / understanding [e.g. meaning] of language in absence of hearing impairment [tested] Sources: American Academy Neurology, Child Neurology Society (US), WHO ICD11 UK Working Group, RCPsych ; National Peer Group GP ASD Screening tool (Berney et al. 2012); SCAN (revision working Group; 2013)

22 ‘Red Flags’ Earliest baby - / childhood Did your baby turn or look at you when you called baby’s name? Did your baby seem to have trouble hearing – but hearing test normal? Did your baby look at people when they began talking, even when they werenot talking directly to your baby? Did your baby look up from playing with a favourite toy if you showed him or here a different toy? Did your baby seem interested in other babies his or her age? When you said ‘where is [a familiar person or object]’ without pointing or showing, would your baby look at the person or object named? What did you typically have to do to get your baby to turn towards you?

23 Differential diagnostic opportunities and clinical traps Abnormal Quality of Social Reciprocity ‘Aloof – Odd but Active - Withdrawn’ –Personality disorders, esp. narcissistic, dyssocial, anankastic, schizoid –Cognitive Impairment greater than in reality –Mental Illnesss, esp. BPD, Sz –Foetal Alcohol Syndrome (p255) –Predatory Psychopath –Intentionally intimidatory (requires ‘Mentalisation’)

24 Foetal Alcohol Syndrome Microcephaly (small forehead) Short palpebral fissure Flat midface Indistinct philtrum Thin upper lip Epicanthal folds Low nasal ridge Minor ear abnormalities (pointed, set) Micrognathia

25 Autism Spectrum Disorders incl. high functioning / AS From Descriptive Phenomenology across the life span to Clinical Risk Appraisal & SPJ Ekkehart F.A. Staufenberg Consultant Forensic Neuropsychiatrist Sen. Lecturer (hon.), The Norwich School of Medicine, UEA Consultant in Epilepsy and Neuropsychiatry, Dept. Neurology, The Norwich Epilepsy Clinic Norfolk & Norwich University Hospital NHS FT


27 Available to download from: statistics/Publications/Publications PolicyAndGuidance/DH_076511


29 The Risk Equation RISK = (potential) perpetrator + Environment ( incl. teams’ / organisational- ) + Victim specific dimensions A complex open system of dynamic and actuarial (static) interacting variables (Staufenberg & Webster, 1997, adapted from Peter Scott, 1974)

30 Constituents of the SPJ formulation predisposing factors precipitating factors relevant risk factors risk of what? triggers maintenance relevant protective factors RISK FORMULATION perpetuating factors

31 SPJ Formulation : Our Task shared To formulate a shared organisational framework for producing a free text description that explains the underlying (dynamic) relationships of the risk factors (actuarial / historical and dynamic) as elicited AND proposes hypotheses regarding action to facilitate change based on scenario planning

32 Heuristic Formulation of SPJ Predisposing Factors Risk factors identified from the tooled risk assessment (currently no break down of biol./social/psychol.) Precipitating factors Triggers identified from scenario planning exercise priority for risk management (currently no break down of biol./social/psychol.) Protective factors Factors identified with client/informant (biol./social/psychol.) Perpetuating factors what factors maintain this risk over time? long-term risk management

33 Conclusions Unless you do detailed neurodevelopmental history & FH, we will continue to un-diagnose Sz / PD / ID and BPD from HS patients BCFS-East Anglia national referral centre for neurodevelopmental disorders with or without combination of HFA and Eastern SCG ‘Gatekeeper / Access Assessor’ service for these

34 Conclusions Genotype being unravelled –Single nucleotide polymorphisms (SNPs) –Copy Number Variations (CNV; faulty enzymatic DNA repair; 7q, 15q, 16p) MRI and DTI evidence of DD Psychopathy with ASD shows clear differences Misdiagnosis / Missed diagnosis in adulthood ~ –heterogeneity of behavioural phenotype, –Sex / Gender –neurodevelopmental subtypes of ASDs –ADHD and Sz and personality disorders (service bias) Lack of training, clinical curiosity, neurodevelopmental / paediatric training

35 References (1) The cost of Autistic Spectrum Disorders - The economic cost of non-intervention Mental Health Foundation, Vol. 1, Updates, April 2000 Asperger's syndrome: a clinical account. Wing L; Psychol Med 11:115–29, 1981 Violence and Asperger's syndrome: a case study. Mawson D, Grounds A, Tantam D.; Br J Psychiatry 147:566–9, 1985 An assessment of violence in a young man with Asperger's syndrome. Baron-Cohen S: J Child Psychol Psychiatry 29:351–60, 1988 Aggression and sexual offence in Asperger's syndrome. Kohn Y, Fahum T, Ratzoni G, et al. Israel J Psychiatry Rel Sci 35:293–9, 1988

36 Firesetting in an adolescent boy with Asperger's Syndrome. Everall IP, Lecouteur A.; Br J Psychiatry, 157:284–7, 1990 Sexual attitudes and knowledge of high-functioning adolescents and adults with autism. Ousley Y, Mesibov GB.; J Aut Devel Disord 21:471–81, 1991 Violence in Asperger's Syndrome: a critique. Ghazziudin M, Tsai I, Ghazziudin N.; J Aut Devel Disord 21:349–54, 1991 Asperger's syndrome and violence. Hall I, Bernal J. Br. J Psychiatry 166:262–8, 1995 References (2)

37 Challenging and Offending Behaviour by Adults with Developmental Disorders, Holland, A (1991) Australia and New Zealand Journal of Developmental Disabilities, 17, pp 119 - 126 The outcome in children with childhood autism and AS originally diagnosed as at risk of offending conduct FW Larsen, SE Mouridsen - European Child & Adolescent Psychiatry, 1997 Only 1 patient had a criminal record during the 30 years follow-up. A Preliminary Study of Individuals with ASD in Three Special Hospitals in England, Hare, D, Gould, J, Mills, R and Wing, L.; 1999 London: National Autistic Society Asperger's syndrome in forensic settings. Murrie DC, Warren JI, Kristiansson M, et al. Int J Forensic Ment Health 1:59–70, 2002 References (3)

38 Asperger's disorder and the origins of the Unabomber. Silva JA, Ferrari MM, Leong GB; Am J Forensic Psychiatry 24:5–43, 2003 Paraphilic psychopathology in a case of autism spectrum disorder. Silva JA, Leong GB, Ferrari MM; Am J Forensic Psychiatry 24:5–20, 2003 The challenge of adolescents and adults with Asperger's syndrome. Tantam D; Child Adolesc Psychiatr Clin North Am 12:143–63, 2003 AS from childhood into adulthood T Berney - Advances in Psychiatric Treatment, 2004 - RCP Characteristic features of Asperger syndrome that predispose to criminal offending: An innate lack of concern for the outcome... References (4)

39 Pervasive developmental disorders, psychiatric comorbidities, and the law. Palermo MT.; Int J Offend Ther Comp Criminol 48:40–8, 2004 A neuropsychiatric developmental model of serial homicidal behavior. Silva JA, Leong GB, Ferrari MM.; Behav Sci Law 22:787–99, 2004 Forensic aspects of Asperger's Syndrome. J Forensic Psychiatry Psychol Barry-Walsh JB, Mullen PE.; 15:96–107, 2004 Stalkers and Their Victims. Mullen PE, Pathe M, Purcell R.; Cambridge, UK: Cambridge University Press, 2004 Autistic spectrum disorders and stalking. Stokes M, Newton N.; Autism 8:337–9, 2004[[ References (5)

40 Forensic Aspects of Asperger’s Syndrome. JB Barry-Walsh and P Mullen; Journal of Forensic Psychiatry&Psychology, Vol 15 (1), March 2004, 96-107 A case-control study of offenders with high functioning autistic spectrum disorders. MR Woodbury Smith, ICH Clare, AJ Holland, A Kearns, EFA Staufenberg, P Watson; Journal of Forensic Psychiatry and Psychology, Vol. 16 (4), Dec. 2005, 747-763 Asperger's syndrome: A comparison WoodburySmith M, Klin A, Volkmar F. Current Opinion in Psychiatry, Vol. 19(4), July 2006 Depressive symptomatology, exposure to violence, and the role of social capital References (6)

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