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FASD Barnsley Oct 11 Dr Raja Mukherjee Consultant Psychiatrist / Honorary Senior Lecturer Lead Clinician FASD Behavioural Clinic Surrey and Borders Partnership.

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Presentation on theme: "FASD Barnsley Oct 11 Dr Raja Mukherjee Consultant Psychiatrist / Honorary Senior Lecturer Lead Clinician FASD Behavioural Clinic Surrey and Borders Partnership."— Presentation transcript:

1 FASD Barnsley Oct 11 Dr Raja Mukherjee Consultant Psychiatrist / Honorary Senior Lecturer Lead Clinician FASD Behavioural Clinic Surrey and Borders Partnership NHS trust/ St George's university of London

2 Diagnostic Terms 1.Fetal Alcohol Syndrome : Confirmed alcohol exposure : Alcohol Exposure Facial pattern of Short palpebral fissures < / = 10 percentile, Thin upper lip vermillion, Smooth philtrum Evidence of pre / postnatal growth retardation Evidence of Neurocognitive deficits 2Fetal Alcohol Syndrome: No confirmed alcohol exposure As above but no alcohol exposure found 3Partial Fetal Alcohol syndrome: Confirmed Alcohol Exposure Not all of the above features are present but neurocognitive and some facial features needed 4Alcohol Related Birth Defect (ARBD) Confirmed maternal alcohol consumption as well as some but not all of the facial features are present however the behavioural features or structural abnormalities are more pronounced. 5Alcohol Related Neurodevelopmental Disorder (ARND) Confirmed maternal alcohol consumption with the absence of growth retardation or facial features and with the neurocognitive features being prominent. 6 Fetal Alcohol Spectrum Disorders Umbrella term. Not a diagnostic term Other Terms to be discussed later Summary of diagnostic categies and methods. (Stratton 1996 Hoyme 2005).

3 Alcohol as a Teratogen

4 How genetics works Genes Amino - Acids Proteins Organs

5 Abnormal genetics Genes Faulty Amino – Acids coded incorrectly Incorrect Proteins Organs Malformed

6 How a Teratogen has effect Genes Amino - Acids Abnormal Proteins Teratogen e.g. Alcohol

7 Epigenetics The study of heritable changes in gene function not controlled by changes in the DNA sequence. Epigenetic phenomena play a significant role in development and evolution, and include histone modifications and DNA methylation

8 Example of epigenetic in action in genetically identical mice using the 'agouti viable yellow', or Avy Avy gene has little or no methylation, then it is active in all cells, and the mouse is yellow Avy is highly methylated, it switches off throughout the entire body. This means the mouse is a sooty-brown colour In between these two extremes, Avy can be methylated to varying degrees

9 Incidence and risk

10 Examples of recent prevalence studies using the same methodology Prevalence Rates /1000 population FASPFASFASD S Africa Western cape Italy Croatia

11 Rates Figure as high as 3.5 % has been quoted in research (may 2006) We dont know what is the UK figure Percentage drinking during pregnancy –61% DOH –57% IFS

12 Rates International prevalence –1/1000 FAS –9.1 / 1000 FASD (OLeary 2003) –1-2 / 100 FASD ( University of Washington 2004) This figure is changing Figure as high as 3.5 % has been quoted in research (may 2006) We dont know what is the UK figure Percentage drinking during pregnancy –61% DOH –57% IFS

13 Risk by drinking group Level of Alcohol ConsumptionNumber of Women in group (Millions) Is this true level What should we expect? Note of caution this is assumption and not known Nil Low occasional 14.2 Few not as many as figures quoted Above recommend levels 2.6 Possible more but probably not at levels quoted Binge 1.9 Unknown but regular binge drinking high risk and probably higher than figures quoted Moderate – heavy 2.5 Probably higher than figures quoted Heavy 0.6 Higher than figures quoted Totals 24.9 FASD Risk 1/ 100 or FAS 1./1000

14 Relationships Full FAS ARND No identifiable Problem

15 How it presents Mukherjee et al JRSM 2006 Gray and Mukherjee JMHLD 2007

16 Reasons for referral Growth problems Behavioural issues Learning issues Physical problems

17 What do people know Mukherjee, Wray, Hollins, Curfs

18 Themes Lack of knowledge Need for consistent guidance/ Cynicism Need for education Lack of support services

19 Professional Attitudes Do you feel you have been generally provided with enough information to acquire knowledge for yourself? (N = 427) NValid % Yes % No/ Dont know %

20 Professional Attitudes Do you feel you have been generally provided with enough information to advise pregnant mothers safely? (N = 417) NValid % Yes % No/ Dont know %

21 Diagnosis

22 Facial features

23 Small head Small nose Small midface Long philtrum; Thin upper lip normal alcohol-exposed Mouse fetuses Comparison: Child with FAS and mouse fetus with fetal alcohol exposure Comparison: Child with FAS and mouse fetus with fetal alcohol exposure Child with FAS Short palpebral fissures *

24 Critical periods and facial features Modified from Sulik et al. NormalAlc–Day 7Alc–Day 8 Fetus Neonate Slides Courtesy of Professor E Riley University of San Diego

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26 Methods of Diagnosis of facial abnormalities: note all of these require careful history taking and evidence of growth retardation to make the diagnosis (Chudley 2005) Gestalt: Facial pattern recognition requires experience and clear history. Issues of accuracy and inconsistency often found D Score method: computational method for facial pattern based on careful measurements of abnormalities: requires a high degree of training and skill restricting practice to a few. 4 Digit scoring method and Facial photographic recognition software: applies areas of history and facial recognition to four 4-point likhert scales to establish diagnosis. Requires minimal training and can be used easily by all in clinical settings.

27 Comparison between diagnostic Tools CDCIOM revisedCanadian4 Digit Face10 th percentile PFL and rank 4/5 on lip philtrum 10 th percentile PFL and rank 4/5 on lip philtrum 3 rd percentile PFL and rank 4/5 on lip philtrum GrowthPre / post natal growth below 10 th percentile Neurological1 out of several brain parameters including OFC <10 %, CNS deficits 1 out of l brain parameters including OFC <10 %, CNS deficits Or abnormal structure 3+ soft hard neurological signs 1 out of several brain parameters including OFC <3 %, CNS deficits AlcoholConfirmed or unknown Confirmed to be excessive or unknown Confirmed or unknown

28 Screening tool Designed and used by Raja Mukherjee

29 Tools to help identify drinking behaviours First Things First –Ethical considerations History and rapport Screening tools –MAST –Audit-C –TACE –TWEAK Biomarkers –Meconium FFA –Hair Sample / Urine analysis –Blood Test

30 4 Digit Diagnostic Code Astley and Clarren 96,00,02 4 broad categories –Growth –Facial features –Brain –Alcohol exposure Based on defined criteria giving score each areas and then diagnosis 26 Categories Static encephalopathy A,B,C,E,F, (G,H) relate to FASD diagnoses Caution (requires modification of Alcohol scoring)

31 4- Digit Score and Photographic Software She hates me for This!!! Forgave me after getting some flowers!

32 4- Digit Score and Photographic Software Known marker for pixel length Allows Calculation of perameters

33 4- Digit Score and Photographic Software Known marker for pixel length Allows Calculation of perameters More objective way of discrimination

34 4- Digit Score and Photographic Software Lip Philtrum Guide from 4 Digit Score Schedule : Astley and Clarren University of Seattle

35 4- Digit Score and Photographic Software Known marker for pixel length Allows Calculation of perameters More objective way of discrimination Still some subjectivity Gives a range of Scores Combined with other parameters leads to overall score My Wifes Score : 1212 : P –No Physical or CNS abnormalities

36 FAS Child 12

37 ARND Child 15

38 FAS or not? Case 1

39 FAS or not? Case 2 ? Who was exposed to more alcohol case 1 or 2

40 Cause or Effect?

41 Top down or bottom up ? Bottom Up: Aetiology Top Down: Phemomenology

42 Cluster of Symptoms Inattention Hyperactivity Poor social understanding Impulsivity obsessionality Tics Poor Planning Cognitive flexibility problems Working Memory deficits Receptive language deficits Expressive language deficits Poor imagination

43 Cluster of Symptoms: ADHD Poor social understanding obsessionality Tics Poor Planning Cognitive flexibility problems Working Memory deficits Receptive language deficits Expressive language deficits Poor imagination Inattention Hyperactivity Impulsivity

44 Cluster of Symptoms: ASD Inattention Hyperactivity Poor social understanding Impulsivity obsessionality Tics Poor Planning Cognitive flexibility problems Working Memory deficits Receptive language deficits Expressive language deficits Poor imagination

45 Cluster of Symptoms: ASD / ADHD InattentionHyperactivity Poor social understanding Impulsivity obsessionality Tics Poor Planning Cognitive flexibility problems Working Memory deficits Receptive language deficits Expressive language deficits Poor imagination

46 Cluster of Symptoms: FASD Inattention Hyperactivity Poor social understanding Impulsivity obsessionality Tics Poor Planning Cognitive flexibility problems Working Memory deficits Receptive language deficits Expressive language deficits Poor imagination

47 Characteristic vs. Discriminating symptoms 3 Disorders with overlapping symptoms C C D D C = Characteristic: D= Discriminating D

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49 What is so important about an S? Fetal alcohol spectrum Disorder –Unitary diagnosis –Separate from others Fetal Alcohol Spectrum disorders : note the S!! –An umbrella term –Donates the range of conditions that can be encompassed by the effects of alcohol in utero –Becomes a teratogenic aetiological factor causing phenomenological outcomes –Not mutually exclusive from current diagnostic criteria

50 Aetiology Vs Phenomenology Poor social understanding Receptive language deficits Expressive language deficits Poor imagination FASD Fragile X Noonans Downs

51 Common Ground Inattention Hyperactivity Poor social understanding Impulsivity obsessionality Tics Poor Planning Cognitive flexibility problems Poor imagination Pre Frontal Cortex Damage FASD Fragile X Noonans Downs

52 Relationships Full FAS ARND No identifiable Problem ADHD ASD Mental health problems

53 DC- LD Developed Faculty of Learning Disability Psychiatry 2001 Multiaxial 1Severity of LD 2Cause of LD 3Psychiatric Disorders –A Developmental disorders –B Psychiatric illness –C Personality Disorders –D Problem Behaviours –E Other Disorders

54 Multi axial way of thinking! Symptoms e.g. Autism Depression Aetiology e.g. FASD Level of Functioning

55 F84.0 = 76.2% No ASD = 19.0

56 Type of Social Impairment : From DISCO scoring Bishop et al: FASD group more likely to initiate social contact Possible correlation with IQ level p=0.005

57 Management approaches based on pulling all what has been learnt together What does it all mean to me?

58 Impulsivity / Distractibility

59 No Clear statistical link with the Small numbers between Diagnosis Age IQ Sex

60 Ranking of most difficult behaviours with score of 1.5 Mean on DBC DBC ParameterMean Score Easily Distracted1.95 Over excited1.86 Impulsive1.81 Problems with feelings1.77 Poor sense of danger1.76 Easily Led1.75 Poor attention span1.71 Temper Tantrums1.70 Impatient1.65 Irritable1.61 Tells Lies1.52 Does not mix with own peer group1.50 Attention seeking1.50

61 Single item analysis of ADHD diagnostic criteria: inattentive symptoms Percentage of Group meeting Criteria (n) Total in group (21) Not pay attention81 (17) Fail to stick at task76.2 (16) Not listen when spoken to81 (17) Fail to Finish an instruction95.2 (20) Difficulties planning90.5 (19) Avoid areas find difficult90.5 (19) Loose things needed for task85.7 (18) Easily distracted100 (21) Forgetful90.5 (19)

62 Lobe Analysis FrontalTemporalParietalOccipital Volume Lobe Controls FAS p =.0003 p =.018 p =.030 p =.0002 * Slides Courtesy of Professor E Riley University of San Diego

63 Cerebrum Cerebellum Corpus Callosum Cerebellum NDFASD FAS


64 Summary of other research in this area People with FASD is worse in the visual modality than the auditory. Coles 2002 Executive function in deficit in people with FASD Rasmussen 2005 –Not simply related to IQ –Not related to dysmorphology Relationship between frontal brain size and maternal alcohol consumption Wass et al 2001, Persutte 2000 Executive functioning not reflective of IQ Connor 2000

65 Executive control of Schemas Norman and Shallice 86 Activating Impulse Orange Action Peel Orange Executive control Schema Peel orange schema Supervisory Attention System = EC Hungry

66 Executive control of Schemas Norman and Shallice 86 Activating Impulse Orange Action Peel Orange Executive control Schema Peel orange schema Not Hungry

67 Executive control of Schemas Norman and Shallice 86 Activating Impulse Orange Action Peel Orange Executive control Schema Peel orange schema Not Hungry

68 Decision making

69 Ranking of most difficult behaviours with score of 1.5 Mean on DBC DBC ParameterMean Score Easily Distracted1.95 Over excited1.86 Impulsive1.81 Problems with feelings1.77 Poor sense of danger1.76 Easily Led1.75 Poor attention span1.71 Temper Tantrums1.70 Impatient1.65 Irritable1.61 Tells Lies1.52 Does not mix with own peer group1.50 Attention seeking1.50

70 Active Memory Model Central Executive Visual spatial Active memory Semantic active memory Phonological Active memory Stored visual spatial information Stored semantic information Stored phonological information Long term memory store

71 Model of relationship between Working memory, Consolidation system and long term memory Consolidation system Working Memory Long Term Memory Store

72 Hippocampal Circuit Entorhinal Cortex -> Dentate Gyrus -> CA3 -> CA1 -> Subiculum -> Fimbria -> Fornix

73 Examples of other research in this area Immediate memory worse than long term memory Mattson 2002 Working memory and effects on attention affected by alcohol Burden 2005 GABAa receptors affected by alcohol more likely to be linked to deficits with memory Gibbs 2005 Linked to Executive deficits already shown

74 The frontal lobes, making logical decisions Frontal Cortex Striatum (caudate & putamen) Globus Pallidus (part of lenticular nucleus) Thalamus Caudate * Accumbens * NDFASD FAS *** * Concordant with animal data Slides Courtesy of Professor E Riley University of San Diego

75 White versus gray matter What is Myelin? –Clinically delayed myelination it has been observed –Riikonen et al., 1999 –alcohol-induced delayed myelination are due to the delayed expression of myelin basic protein (MBP) and transferrin –Ozer et al., 2000 Slides Courtesy of Professor E Riley University of San Diego

76 Summary of other research in this area Prenatal alcohol linked to slower processing speed Burden 2005b Trade off between speed and accuracy Sampson 1997 Problems passing information between hemispheres Roebuck 2002

77 A possible model of Executive function integration Anterior Cingulate Initiating and focusing attention Motivating Reward behaviour Medial Inhibiting Unwanted behaviour Lateral Orbito Frontal Cortex Dorsolateral Pre frontal Cortex Selecting And Monitoring Directory schemas Motor Response Stepping on Brake initiated, Stepping on accelerator inhibited Posterior Association Areas Knowledge and action Schemas Time 1 Green light Time 2 Child Crossing

78 How the brain organises information AA DD BB EE CC

79 AA DD BB EE CC Executive Control monitors locates and plans activities

80 How the brain organises information AA DD BB EE CC Executive Control monitors locates and plans activities

81 How the brain organises information AA BB CC Executive Control monitors locates and plans activities How to cross a road Pedestrian crossing Cars can kill

82 Source Monitoring

83 Individual learns where something is and stores information how items linked AA BB

84 When asked to recall information the source of the learning is muddled AA BB

85 How the brain organises information : External Support BB Executive Control monitors locates and plans activities How to cross a road AA Pedestrian crossing CC Cars can kill

86 Ways of overcoming memory deficts Structure and routine Repetition Not expecting people to learn quickly and changing your not their experiences Concrete tasks avoiding ambiguity

87 Mental Health

88 Rates of Autism in other conditions

89 Type of Social Impairment : From DISCO scoring Bishop et al: FASD group more likely to initiate social contact Possible correlation with IQ level p=0.005

90 Vineland adaptive behaviour schedule: adaptive age scores (n=19) (2 not returned) DomainMinimumMaximumAverage Age (95%CI) Receptive language ( ) Expressive language ( ) Written Language (7.37 – 10.09) Personal Daily living Skills ( ) Domestic Daily living skills ( ) Community skills (5.30 – 7.24) Interpersonal skills ( ) Play/ leisure socialisation (3.56 – 5.56) Coping ( )

91 Secondary Disabilities Disability% Psychiatric problem90 Disrupted School experience 60 Trouble with the law60 Confinement50 Inappropriate sexual behaviour 50 Alcohol /Drug problems 30 Streissguth et al 1996, 2000

92 Frequency as a % of Psychiatric Diagnoses seen in cohorts of people with FASD Famy 1997 (n=23)Barr 2006 (n=136?) Total 92 Alcohol / Drug Dependence Major Depression Psychotic Disorder Bipolar Anxiety disorder Eating Disorder PD 48

93 Where can I go for help?

94 Referral pathways Clinical Genetics (diagnosis only) FASD Specialist (very few around) Paediatrician Child psychiatry Child Psychology Adult Psychiatry LD Psychiatry Often need to Specify suspected diagnosis

95 FASD Clinic SPECIALST FETAL ALCOHOL SPECTRUM DISORDER CLINIC Information leaflets and referral process available

96 Second European Conference on FASD Fetal Alcohol Spectrum Disorder: Clinical and Biochemical Diagnosis, Screening and Follow-up Barcelona October 2012 Venue: Barcelona Biomedical Research Park, PRBB Av. Dr. Aiguader 88, Barcelona, SPAIN

97 Questions SAVE THE DATE – 13th & 14th October 2011 Launch of UK Professionals Forum on FASD (Foetal Alcohol Spectrum Disorders) Practical guide for those who want to know what to do


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