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Foetal Alcohol Syndrome An overview of the Literature

Foetal Alcohol Syndrome An overview of the Literature. Dr Raja Mukherjee Specialist Registrar / Honorary Lecturer St Georges Hospital Medical School London April 7 th 2004. Outline . History Epidemiology Characteristic features Diagnosis Aetiology Management

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Foetal Alcohol Syndrome An overview of the Literature

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  1. Foetal Alcohol SyndromeAn overview of the Literature Dr Raja Mukherjee Specialist Registrar / Honorary Lecturer St Georges Hospital Medical School London April 7th 2004

  2. Outline • History • Epidemiology • Characteristic features • Diagnosis • Aetiology • Management • The problem for the future Raja Mukherjee SGHMS 2004

  3. Background

  4. History • Greek • Middle Ages • 18th Century • 20th Century • Lemoine • Smith + Jones • Ongoing Work to date Raja Mukherjee SGHMS 2004

  5. Terminology • FAS • Partial FAS • FAE • ARND • FASD Raja Mukherjee SGHMS 2004

  6. Epidemiology

  7. P.A. May 1991 Sampson et al 1997 Critique of published incidence studies of FAS in three population based studies Pilot study 1979-1983 1979-1981 1977 –1990 1975 –1981 Seattle Cleveland France FAS + ARND Seattle All SW Indians 2.0 / 1000 2.8 / 1000 4.6 /1000 1.3 – 4.8 / 1000 9.1 / 1000 E.L Abel 1995 Review of 35 studies reporting the incidence of FAS 1973- 1992 US Incidence European Incidence 1.95 /1000 0.08 / 1000 Centres for disease control 1995 National (USA) birth defects monitoring programme 1979 –1993 Not Given 0.1 /1000 Prevalence O'Leary 2002 Raja Mukherjee SGHMS 2004

  8. G.M. Egeland 1998 Multiple data source surveillance in Alaska 1977 –1992 Alaska 4.1/1000 H. Grinfeld 1999 Cross sectional survey four genetic clinics Brazil 1997 Not Given 1.0/ 1000 P.A. May 2000 Community based study in the Western cape of South Africa Not stated Community wide age specific rate 6-7 year olds (48 cases) 39.2 /1000 C. O Learey 2002 Multiple source FAS data from Southern Australia 1980 -1997 Birth defects register and Rural paediatric service database 0.18 per 1000 Prevalence 2 O'Leary 2002 Raja Mukherjee SGHMS 2004

  9. Problems with Studies • Inconsistent diagnostic methods • Lack of agreement over FASD • Differing methodologies applied • Accepted rate 1/ 1000 • FASD 3-4 times more but possibly as high as 1/100 Raja Mukherjee SGHMS 2004

  10. Tip of the iceberg Slide copied from presentation by E Riley Raja Mukherjee SGHMS 2004

  11. Maternal Risk Indicators Stratton 96, Abel 98 Raja Mukherjee SGHMS 2004

  12. Who is at risk? Every woman who drinks whilst pregnant Raja Mukherjee SGHMS 2004

  13. Living stable and nurturing home greater than 72% of life Diagnosis before aged 6 No experience of violence directed at self Staying in each living situation for more than 2.8 years Experiencing good quality home from age 8 –12 Being eligible for Learning Disability services Having diagnosis of FAS rather than FASD Having basic needs met for more than 13% of life Protective factors Streissguth 96,00 Raja Mukherjee SGHMS 2004

  14. Patterns of drinking • Chronic Drinking • Binge drinking • Moderate drinking • Low levels Raja Mukherjee SGHMS 2004

  15. Chronic drinking • Classically associated with abnormalities • Upto 40% of people who drink chronically during pregnancy will have a child with FAS • Unable to predict who will / will not be at risk • Larger percentage develop behavioural correlates Jones+Smith 75, Streissguth 96 Raja Mukherjee SGHMS 2004

  16. Binge drinking • Pattern increasingly seen UK (National reduction Strategy interim report) • 20% Drink more than recommended • 13% Binge drink • 22% all drinking episodes : Binge type • Pathology of binge drinking • Vulnerable periods for malformation differ (Heaton et al 2003) Raja Mukherjee SGHMS 2004

  17. Moderate / Low level consumption • Differing views as to the level of harm • Polygenis et al 97 and Knupfer 91 argue that insufficient evidence exists to support this assumption • This is in contrast to increasing animal and prospective literature showing neuro behavioural damage Zhou et al 2003, Sulik et al 81, Hanson 78 • As little as one drink per day can be seen as harmful Sood et al 2001, Rolater et al 2000 Raja Mukherjee SGHMS 2004

  18. Characteristic features and Diagnosis

  19. Diagnostic Criteria • Growth retardation • Facial Dysmorphology • Neurodevelopmental problems • Alcohol supportive not essential Raja Mukherjee SGHMS 2004

  20. IOM Guidelines for diagnosis Sampson 97 Raja Mukherjee SGHMS 2004

  21. 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 Raja Mukherjee SGHMS 2004

  22. Comparison of two methods • Diagnosing FAS easier than FASD • If no evidence of alcohol consumption reliability significantly worse • More work still needed Burd et al 2003 Raja Mukherjee SGHMS 2004

  23. Main Differential Diagnosis • Foetal Hydantoin Syndrome • PKU • Foetal Toluene Syndrome • Cornelia Du Lange • Noonans • Others… DD Morse and Weiner 95 Raja Mukherjee SGHMS 2004

  24. Facial features Raja Mukherjee SGHMS 2004

  25. www.FASSTAR.COM Raja Mukherjee SGHMS 2004

  26. Small head / brain Structural abnormalities Absent Corpus callosum Small cerebellum Neurological soft signs In coordination Impaired hand eye coordination Hyperactivity and attention Sustained attention Focused attention Cognitive flexibility Planning Learning and memory Problems declarative memory Arithmetic Socioemotional CNS Deficits Mattson + Reiley 1997 Streisguth 1997,2000 Raja Mukherjee SGHMS 2004

  27. Effect on IQ • Majority fall within normal range • Normal distribution shifted to left • Roughly 20 point shift • FAS average IQ 79 - 72 • FAE average IQ 90 NOTE :NOT TO SCALE DIAGRAMATIC REPRESENTATION ONLY Streissguth 78,96, Matteson 96 Olegard 79 Raja Mukherjee SGHMS 2004

  28. 115 NC PEA * 100 * * * FAS * ** 85 Standard score 70 55 40 FSIQ VIQ PIQ IQ scale Mattson, S.N., 1997. General Intellectual Performance Slide copied from presentation by E Riley Raja Mukherjee SGHMS 2004

  29. Neuropsychological Performance Mattson, et al., 1998 Slide copied from presentation by E Riley Raja Mukherjee SGHMS 2004

  30. Executive functioning deficits Move only one piece at a time using one hand and never place a big piece on top of a little piece 1 3 6 2 NC PEA Starting position 4 FAS Rule Violations P<0.001 1 2 2 3 0 Group Ending position Mattson, et al., 1999 Slide copied from presentation by E Riley Raja Mukherjee SGHMS 2004

  31. Visio-spatial Functioning • Rats shown spatial difficulties(Kelly et al 88, Reyes et al 89) • Deficits on stepping stone maze: Tests short term recall complex patterns(Streissguth 94) • At 7 .5 years such visuoconstructional tasks one of the most sensitive measures of alcohol teratogenesis • Global Locus test used to differentiate hierarchical visual processing. Found to focus more on Global than local components Matteson and Reiley 97 Raja Mukherjee SGHMS 2004

  32. Physical Conditions associated Raja Mukherjee SGHMS 2004

  33. Secondary Disabilities Streissguth et al 1996, 2000 Raja Mukherjee SGHMS 2004

  34. Psychiatric presentations Famy et al 1998 Raja Mukherjee SGHMS 2004

  35. Criticisms of study • Small numbers • Possible selection bias • Despite this consistent with that already seen • First reports onwards report high levels of psychiatric illness Raja Mukherjee SGHMS 2004

  36. FAS / ADHD • Aetiology or separate condition?Shen et al 1999 • Links suggested but differences in the quality of presentation noted O’Malley + Nanson 2002 • Argued however more research needed to confirm link Linnet et al 2003 Raja Mukherjee SGHMS 2004

  37. Aetiology

  38. Pathology of Alcohol on the Foetus • Several Stages where alcohol can have an effect • Blood alcohol concentration • Binge drinking • Areas of brain damage • Other factors Raja Mukherjee SGHMS 2004

  39. Timing of consumption causes differing patterns to be seen Not always the case full facial features will be seen Raja Mukherjee SGHMS 2004

  40. Blood alcohol concentration Diagrammatic representation of blood alcohol concentrations post consumption of alcohol • Threshold for damage • Binge drinking/ chronic drinking more likely to exceed threshold • Potential for damage from both the rising phase and withdrawal phase • Every person varies as to the exact level of consumption required to exceed limit Threshold level for damage BAC Time Thomas and Riley 98 Point of consumption Raja Mukherjee SGHMS 2004

  41. GABA, Glutamate and Apoptosis • Agents that mimic the effects of GABA at the GABAa trigger • Effects of Glutamate on NMDA receptor and rebound excitation • Acetaldehyde induced damage • Apoptosis Olney et al 2004, Thomas and Reiley 1998 Menegola et al 2000 Raja Mukherjee SGHMS 2004

  42. Areas of Brain damage • Corpus Callosum: Smaller / Agenesis • Similar pattern to that seen in ADHD • Cerebellar Vermis : Anterior vermis smaller than controls • Basal ganglia: Reduced in volume Matteson and Riley 95,97 Raja Mukherjee SGHMS 2004

  43. Cerebrum Cerebellum Cerebrum 100 PEA 95 FAS 90 *** p < 0.001 ** p < 0.010 85 80 75 Cerebellum Corpus Callosum Change in brain size Mattson et al., 1994 Slide copied from presentation by E Riley Mattson et al., 1994 Raja Mukherjee SGHMS 2004

  44. Brain damage resulting from prenatal alcohol photo: Clarren, 1986 Slide copied from presentation by E Riley Raja Mukherjee SGHMS 2004

  45. Other factors • Placental function and hormone regulation • Neuronal migration Raja Mukherjee SGHMS 2004

  46. Management

  47. Management • Assessment • Psychiatric • Psychological • Social • Educational • Forensic • Treatment • Location of treatment Raja Mukherjee SGHMS 2004

  48. Overview • Not easy to make diagnosis in Adults • Features are less definitive than childhood • Same areas need to be looked at • Try to find developmental records • Pictures from childhood • Psychometric tests help • Hx of Alcohol use or likely use during pregnancy • Combination of all features Raja Mukherjee SGHMS 2004

  49. Important! • Following suggestions are just that a Suggestion • Many models • All overlap depending on resources • The greater the evidence the greater the ability to make a diagnosis Raja Mukherjee SGHMS 2004

  50. Psychiatric • Hx • Developmental • Short stature • Neurobehavioral deficits • Maternal alcohol consumption during pregnancy • Secondary disabilities (as above) • Mental State: Secondary disabilities • Physical • Facial features • Secondary physical features • Cerebellar signs • Neuroimaging Raja Mukherjee SGHMS 2004

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