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마더세이프 - FASD 조기진단 (김고운 교수)
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마더세이프 - FASD 조기진단 (김고운 교수)

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  • 1. Early Diagnosis of Fetal Alcohol Spectrum Disorder Goun Jeong, M.D. Department of Pediatrics 2010.04.27. Cheil General Hospital & Women’s Healthcare Center, Kwandong University College of Medicine, Seoul, Korea
  • 2. Introduction Fetal alcohol syndrome (FAS) – The most severe form of FASD ① Facial anomalies ② Growth retardation ③ CNS anomalies Fetal alcohol spectrum disorder (FASD) – Effect of maternal alcohol consumption during pregnancy – Not a diagnostic term
  • 3. Prenatal alcohol exposure is a 100% preventable cause of birth defects and developmental disabilities.
  • 4. Historical Background ‘You will conceive and give birth to a son Drink no wine or other fermented drink’ (Holy Bible, Judges 13:7) ‘Foolish, drunken and harebrained women most often bring forth children like morose and languid.’ (Aristotle, BC 384-322) ‘Offspring of imprisoned alcoholic women, 55.8% born dead or died before age 2.’ (Sullivan, 1899)
  • 5. The discovery of FAS 1968, Lemoine et al. – Outcome of children of alcoholic mothers 1973, Jones and Smith – ‘Fetal alcohol syndrome’ was first introduced 1978, Clare and Smith – ‘Fetal alcohol effects’ 1996, Institute of Medicine (IOM) – replaced FAE with ARBD and ARND – New classification of FASD
  • 6. Epidemiology Prevalence – FAS: 0.5-2.0/1000 birth in US – FASD: 9.1/1000 birth in US (1%) >4% in South Africa Economic impact – average lifetime costs for 1 FAS pt: $2.9 million – annual cost: $ 6 billion
  • 7. The reasons for variable prevalence rates – variable poverty rates – genetic and ethnic difference: level of enzyme activity – lack of uniformly accepted diagnostic criteria – lack of knowledge, skill, training and misconceptions among primary care providers
  • 8. Variability of adverse fetal outcomes – the amount of alcohol – genetic variation – nutrition – maternal age – socioeconomic status – the timing of exposure
  • 9. Clinical manifestations of FASD
  • 10. FASD related birth defects • Midface hypoplasia, Hypertelosism, High arched palate Skeletal • Micrognathia,Joint contracture, Scoliosis, Hemivertebrae, Radioulnar synostosis, Brachydactyly, Clinodactyly, Camptodactyly • Septal defects, Hypoplastic pulmonary arteries, TOF Cardiac • Pectus excavatum or carinatum • Pyelonephritis, Hydronephrosis, Dysplastic kidney Renal • Ureteral duplications, uni/bilateral hypoplasia Ocular • Strabismus, Retinal vascular anomalies Auditory • Conductive hearing loss, neurosensory hearing loss
  • 11. CNS anomalies Cerebrum volume reduction of the cranial vault and brain – 12% compared to control – Parietal, Temporal, Inferior frontal lobe – Lt hemisphere > Rt hemisphere – white matter hypoplasia – visuospatial deficits, verbal memory, impulsiveness
  • 12. Cerebellum – reduction in the anterior vermis (lobule I-V) – motor coordination and balance impairments Basal ganglia – caudate nucleus – connection with cortical and subcortical motor areas – control voluntary motor function – executive function, motivation, social behavior, perseverative behavior
  • 13. Corpus callosum – role in the coordination of various functions – agenesis – thinning, hypoplasia, partial agenesis
  • 14. Neuropsychological and Behavioral changes Overall IQ Learning and Memory Language Attention Visuospatial abilities Executive functioning Fine and Gross motor skills Adaptive and Social skills
  • 15. Secondary Disabilities Psychiatric problem – ADHD – schizophrenia, depression, personality disorders Disrupted school experience Dependent living Trouble with the law Confinement Inappropriate sexual behavior Alcohol or drug problems
  • 16. Diagnosis Diagnostic criteria Institute of Medicine (IOM, 1996) 4-Digit Diagnostic Coding Sytem (Astley, 2004) Center for Disease Control and Prevention (CDC, 2004) Canadian FASD Guidelines (Chudley, 2005) Revised IOM Diagnostic Classification System (Hoyme, 2005)
  • 17. Revised IOM criteria for diagnosis of FASD (Hoyme et al., 2005) I. FAS With Confirmed Maternal Alcohol Exposure (all of A–D) (A) Confirmed maternal alcohol exposure (B) Minor facial anomalies (≥2) (1) Short palpebral fissures (p10%) (2) Thin vermilion border of the upper lip (score 4 or 5) (3) Smooth philtrum (score 4 or 5) (C) Prenatal and/or postnatal growth retardation (1) Height and/or weight p10% (D) Deficient brain growth and/or abnormal morphogenesis (≥1) (1) Structural brain abnormalities (2) Head circumference p10% II. FAS Without Confirmed Maternal Alcohol Exposure IB, IC, and ID as above
  • 18. III. Partial FAS With Confirmed Maternal Alcohol Exposure (all A-C) (A) Confirmed maternal alcohol exposure (B) Minor facial anomalies (≥2) (1) Short palpebral fissures (p10%) (2) Thin vermilion border of the upper lip (score 4 or 5) (3) Smooth philtrum (score 4 or 5) (C) One of the following other characteristics: (1) Prenatal and/or postnatal growth retardation (a) Height and/or weight p10% (2) Deficient brain growth or abnormal morphogenesis (≥1) (a) Structural brain abnormalities (b) Head circumference p10% (3) Complex pattern of behavioral or cognitive abnormalities IV. Partial FAS Without confirmed Maternal Alcohol Exposure IIIB and IIIC, as above
  • 19. V. ARBD (all of A-C) (A) Confirmed maternal alcohol exposure (B) Minor facial anomalies (≥2) (1) Short palpebral fissures (p10%) (2) Thin vermilion border of the upper lip (score 4 or 5) (3) Smooth philtrum (score 4 or 5) (C) Congenital structural defect (≥1) if the patient displays minor anomalies only, X 2 must be present) cardiac/skeletal/renal/eyes/ears/minor anomalies VI. ARND (both A and B) (A) Confirmed maternal alcohol exposure (B) At least 1 of the following: (1) Deficient brain growth or abnormal morphogenesis (≥1) (a) Structural brain abnormalities (b) Head circumference p10% (2) Complex pattern of behavioral or cognitive abnormalities
  • 20. Physical examination Palpebral fissure length
  • 21. Lip-Philtrum Guide unaffected most severe
  • 22. Approach to the diagnosis 1. Screening for maternal alcohol consumption 2. Biomarkers for in utero alcohol exposure 3. Meconium FAEE screening 4. Hair FAEE screening
  • 23. Screening Questionnaires TWEAK (≥ score 3, heavy or problem drinker) T How many drinks does it take before you begin to feel the first effects of (tolerance) alcohol? (3 or more drinks = 2 points) W Have close friends or relatives worried or complained about your (worried) drinking in the past year? (yes = 2 points) E Do you sometimes take a drink in the morning when you first get up? (eye-opener) (yes = 2 points) A Has a friend of family member ever told you about things you said or (amnesia) did while you were drinking that you could not remember? (yes = 1 point) K Do you sometimes feel the need to cut down on your drinking? (kut-down) (yes = 1 point)
  • 24. Timeline followback calendar: TLFB SUN MON TUE WED THU FRI SAT 1 2 3 4 5 6 7 8 9 10 소주 3잒 11 12 13 14 15 16 17 18 19 20 21 22 23 24 와인 1잒 25 26 27 28 29 30
  • 25. Biomarkers GGT (gamma-glutamyl transferase) ↑ MCV (mean corpuscular volume) <98 fL HAA (hemoglobin-associated acetaldehyde) ↑ CDT (carbohydrate deficient transferrin) ↑ FAEE (fatty acid ethyl esters)
  • 26. FAEE Non-oxidative metabolites Esterification of ethanol FAEE synthase, AEAT in all human tissue Produced by the fetus itself from the ethanol
  • 27. Meconium as a matrix Discarded material: noninvasive and easy collection Cumulative matrix from 13th week GA until birth Wider window of opportunity for detection Detected in the meconium of neonates born to both drinking and non-drinking mothers
  • 28. FAEE accumulation in hair Neonatal hair grows at the 4th week of fetal life Collected up to 3 months Accumulation in hair is dose-dependent Long-term biomarker
  • 29. Further evaluation Neurocognitive function test Brain MRI Functional Brain imaging Digital photography EEG
  • 30. Bayley III 베일리 발달척도는 대표적인 발달평가 도구로, 영유아를 대상으로 전반적인 발달 상태 및 정상적인 발달 상태로부터의 이탈 정도를 평가하기 위해 개발되었음 1969년 초판이 개발된 이후, 1993년에 개정판이 나왔고, 2004년 3판이 나온 상태이며, 아직 국내 표준화는 되어있지 않음 Bayley-III (Bayley Scales of Infant Development, Third edition) 인지, 언어, 운동, 사회-정서, 적응적 행동의 총 5개 하위 영역으로 구성
  • 31. Bayley Content (1) 인지(Cognitive) : 외부 세상에 대해 생각하고, 반응하고, 학습하는 정도 언어(Language) : 수용성 언어와 표현성 언어로 구성 – 수용성 언어: 소리를 인식하고 단어와 지시를 이해하는 정도를 평가 – 표현성 언어: 소리, 몸동작, 단어를 사용해 의사소통 하는 정도를 평가 운동(Motor) : 소근육 운동과 대근육 운동으로 구성됨 – 소근육 운동(Fine Motor) : 손과 손가락을 움직이고 사용하는 정도를 평가 – 대근육 운동(Gross Motor) : 싞체를 움직이는 정도를 평가 위의 인지, 언어, 운동은 과제를 이용하여 평가자에 의해 이루어짐
  • 32. Bayley Content (2) 사회-정서(Social-Emotional) – 연령에 따라 정상적으로 도달해야 하는 사회-정서적 측면을 평가 적응적 행동(Adaptive Behavior) – 적응적 행동 영역은 일상생활에서 주어지는 다양핚 요구에 적응하는 능 력을 평가함 – 10개의 소영역으로 구성되어 있음 – 의사소통, 기초학습(단어 인식과 수 세기), 자기지도(스스로를 통제, 지시 따르기), 놀이, 사회관계(사람들과 어울리기), 외부활동, 가정생활(갂단핚 집안일 돕기, 개인 소지품 관리), 건강/안전(기본적인 건강 및 안전 행동), 자기관리(먹기, 배변, 씻기 등), 운동기능(움직임과 도구 다루기) 등 – 적응적 행동의 소영역은 유아의 연령에 따라 해당되지 않는 영역이 있을 수 있음 위의 사회-정서, 적응적 행동은 보호자의 보고에 의해 이루어짐 보조적인 평가를 위함
  • 33. Report example 원점수 척도 점수 표준 점수 백분위 척도 분류 (raw score) (scaled score) (composite score) (percentile) 인지 48 9 95 37 평균 수용성 언어 19 10 100 50 평균 표현성 언어 20 10 소근육 운동 32 9 79 8 경계 대근육 운동 39 4 사회-정서 87 9 95 37 평균 인지, 언어, 운동 등의 영역에서 원점수를 통해 척도점수(10점이 50p)가 산출되고, 최종적으로 표준점수(100점이 50%ile) 및 백분위가 산출됨 표준점수에 따라 [발달지연, 경계, 평균 하, 평균, 평균 상, 우수, 최우수] 등으로 분류됨
  • 34. Thank you for your attention