마더세이프 - fasd 조기진단 (김고운 교수)
TRANSCRIPT
![Page 1: 마더세이프 - FASD 조기진단 (김고운 교수)](https://reader033.vdocuments.pub/reader033/viewer/2022052411/557a96e3d8b42aac568b47d6/html5/thumbnails/1.jpg)
Early Diagnosis of
Fetal Alcohol Spectrum Disorder
Cheil General Hospital & Women’s Healthcare Center,
Kwandong University College of Medicine, Seoul, Korea
Goun Jeong, M.D.
Department of Pediatrics
2010.04.27.
![Page 2: 마더세이프 - FASD 조기진단 (김고운 교수)](https://reader033.vdocuments.pub/reader033/viewer/2022052411/557a96e3d8b42aac568b47d6/html5/thumbnails/2.jpg)
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
![Page 3: 마더세이프 - FASD 조기진단 (김고운 교수)](https://reader033.vdocuments.pub/reader033/viewer/2022052411/557a96e3d8b42aac568b47d6/html5/thumbnails/3.jpg)
Prenatal alcohol exposure is a 100% preventable
cause of birth defects and developmental disabilities.
![Page 4: 마더세이프 - FASD 조기진단 (김고운 교수)](https://reader033.vdocuments.pub/reader033/viewer/2022052411/557a96e3d8b42aac568b47d6/html5/thumbnails/4.jpg)
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)
![Page 5: 마더세이프 - FASD 조기진단 (김고운 교수)](https://reader033.vdocuments.pub/reader033/viewer/2022052411/557a96e3d8b42aac568b47d6/html5/thumbnails/5.jpg)
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
![Page 6: 마더세이프 - FASD 조기진단 (김고운 교수)](https://reader033.vdocuments.pub/reader033/viewer/2022052411/557a96e3d8b42aac568b47d6/html5/thumbnails/6.jpg)
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
![Page 7: 마더세이프 - FASD 조기진단 (김고운 교수)](https://reader033.vdocuments.pub/reader033/viewer/2022052411/557a96e3d8b42aac568b47d6/html5/thumbnails/7.jpg)
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
![Page 8: 마더세이프 - FASD 조기진단 (김고운 교수)](https://reader033.vdocuments.pub/reader033/viewer/2022052411/557a96e3d8b42aac568b47d6/html5/thumbnails/8.jpg)
Variability of adverse fetal outcomes
– the amount of alcohol
– genetic variation
– nutrition
– maternal age
– socioeconomic status
– the timing of exposure
![Page 9: 마더세이프 - FASD 조기진단 (김고운 교수)](https://reader033.vdocuments.pub/reader033/viewer/2022052411/557a96e3d8b42aac568b47d6/html5/thumbnails/9.jpg)
![Page 10: 마더세이프 - FASD 조기진단 (김고운 교수)](https://reader033.vdocuments.pub/reader033/viewer/2022052411/557a96e3d8b42aac568b47d6/html5/thumbnails/10.jpg)
Clinical manifestations of FASD
![Page 11: 마더세이프 - FASD 조기진단 (김고운 교수)](https://reader033.vdocuments.pub/reader033/viewer/2022052411/557a96e3d8b42aac568b47d6/html5/thumbnails/11.jpg)
![Page 12: 마더세이프 - FASD 조기진단 (김고운 교수)](https://reader033.vdocuments.pub/reader033/viewer/2022052411/557a96e3d8b42aac568b47d6/html5/thumbnails/12.jpg)
FASD related birth defects
• Midface hypoplasia, Hypertelosism, High arched palate
• Micrognathia,Joint contracture, Scoliosis, Hemivertebrae, Radioulnar synostosis, Brachydactyly, Clinodactyly, Camptodactyly
Skeletal
• Septal defects, Hypoplastic pulmonary arteries, TOF
• Pectus excavatum or carinatumCardiac
• Pyelonephritis, Hydronephrosis, Dysplastic kidney
• Ureteral duplications, uni/bilateral hypoplasiaRenal
• Strabismus, Retinal vascular anomaliesOcular
• Conductive hearing loss, neurosensory hearing lossAuditory
![Page 13: 마더세이프 - FASD 조기진단 (김고운 교수)](https://reader033.vdocuments.pub/reader033/viewer/2022052411/557a96e3d8b42aac568b47d6/html5/thumbnails/13.jpg)
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
– visuospatialdeficits, verbal memory, impulsiveness
![Page 14: 마더세이프 - FASD 조기진단 (김고운 교수)](https://reader033.vdocuments.pub/reader033/viewer/2022052411/557a96e3d8b42aac568b47d6/html5/thumbnails/14.jpg)
![Page 15: 마더세이프 - FASD 조기진단 (김고운 교수)](https://reader033.vdocuments.pub/reader033/viewer/2022052411/557a96e3d8b42aac568b47d6/html5/thumbnails/15.jpg)
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
![Page 16: 마더세이프 - FASD 조기진단 (김고운 교수)](https://reader033.vdocuments.pub/reader033/viewer/2022052411/557a96e3d8b42aac568b47d6/html5/thumbnails/16.jpg)
Corpus callosum
– role in the coordination of various functions
– agenesis
– thinning, hypoplasia, partial agenesis
![Page 17: 마더세이프 - FASD 조기진단 (김고운 교수)](https://reader033.vdocuments.pub/reader033/viewer/2022052411/557a96e3d8b42aac568b47d6/html5/thumbnails/17.jpg)
Neuropsychological and Behavioral changes
Overall IQ
Learning and Memory
Language
Attention
Visuospatial abilities
Executive functioning
Fine and Gross motor skills
Adaptive and Social skills
![Page 18: 마더세이프 - FASD 조기진단 (김고운 교수)](https://reader033.vdocuments.pub/reader033/viewer/2022052411/557a96e3d8b42aac568b47d6/html5/thumbnails/18.jpg)
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
![Page 19: 마더세이프 - FASD 조기진단 (김고운 교수)](https://reader033.vdocuments.pub/reader033/viewer/2022052411/557a96e3d8b42aac568b47d6/html5/thumbnails/19.jpg)
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)
![Page 20: 마더세이프 - FASD 조기진단 (김고운 교수)](https://reader033.vdocuments.pub/reader033/viewer/2022052411/557a96e3d8b42aac568b47d6/html5/thumbnails/20.jpg)
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
![Page 21: 마더세이프 - FASD 조기진단 (김고운 교수)](https://reader033.vdocuments.pub/reader033/viewer/2022052411/557a96e3d8b42aac568b47d6/html5/thumbnails/21.jpg)
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
![Page 22: 마더세이프 - FASD 조기진단 (김고운 교수)](https://reader033.vdocuments.pub/reader033/viewer/2022052411/557a96e3d8b42aac568b47d6/html5/thumbnails/22.jpg)
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
![Page 23: 마더세이프 - FASD 조기진단 (김고운 교수)](https://reader033.vdocuments.pub/reader033/viewer/2022052411/557a96e3d8b42aac568b47d6/html5/thumbnails/23.jpg)
Physical examination
Palpebral fissure length
![Page 24: 마더세이프 - FASD 조기진단 (김고운 교수)](https://reader033.vdocuments.pub/reader033/viewer/2022052411/557a96e3d8b42aac568b47d6/html5/thumbnails/24.jpg)
![Page 25: 마더세이프 - FASD 조기진단 (김고운 교수)](https://reader033.vdocuments.pub/reader033/viewer/2022052411/557a96e3d8b42aac568b47d6/html5/thumbnails/25.jpg)
Lip-Philtrum Guide
unaffected most severe
![Page 26: 마더세이프 - FASD 조기진단 (김고운 교수)](https://reader033.vdocuments.pub/reader033/viewer/2022052411/557a96e3d8b42aac568b47d6/html5/thumbnails/26.jpg)
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
![Page 27: 마더세이프 - FASD 조기진단 (김고운 교수)](https://reader033.vdocuments.pub/reader033/viewer/2022052411/557a96e3d8b42aac568b47d6/html5/thumbnails/27.jpg)
Screening Questionnaires
TWEAK (≥ score 3, heavy or problem drinker)
T
(tolerance)
How many drinks does it take before you begin to feel the first effects of
alcohol?
(3 or more drinks = 2 points)
W
(worried)
Have close friends or relatives worried or complained about your
drinking in the past year?
(yes = 2 points)
E
(eye-opener)
Do you sometimes take a drink in the morning when you first get up?
(yes = 2 points)
A
(amnesia)
Has a friend of family member ever told you about things you said or
did while you were drinking that you could not remember?
(yes = 1 point)
K
(kut-down)
Do you sometimes feel the need to cut down on your drinking?
(yes = 1 point)
![Page 28: 마더세이프 - FASD 조기진단 (김고운 교수)](https://reader033.vdocuments.pub/reader033/viewer/2022052411/557a96e3d8b42aac568b47d6/html5/thumbnails/28.jpg)
Timeline followback calendar: TLFB
SUN MON TUE WED THU FRI SAT
1 2 3
4 5 6 7 8 9 10
11 12 13 14 15 16 17
18 19 20 21 22 23 24
25 26 27 28 29 30
소주 3잒
와인 1잒
![Page 29: 마더세이프 - FASD 조기진단 (김고운 교수)](https://reader033.vdocuments.pub/reader033/viewer/2022052411/557a96e3d8b42aac568b47d6/html5/thumbnails/29.jpg)
Biomarkers
GGT (gamma-glutamyl transferase) ↑
MCV (mean corpuscular volume) <98 fL
HAA (hemoglobin-associated acetaldehyde) ↑
CDT (carbohydrate deficient transferrin) ↑
FAEE (fatty acid ethyl esters)
![Page 30: 마더세이프 - FASD 조기진단 (김고운 교수)](https://reader033.vdocuments.pub/reader033/viewer/2022052411/557a96e3d8b42aac568b47d6/html5/thumbnails/30.jpg)
FAEE
Non-oxidative metabolites
Esterification of ethanol
FAEE synthase, AEAT in all human tissue
Produced by the fetus itself from the ethanol
![Page 31: 마더세이프 - FASD 조기진단 (김고운 교수)](https://reader033.vdocuments.pub/reader033/viewer/2022052411/557a96e3d8b42aac568b47d6/html5/thumbnails/31.jpg)
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
![Page 32: 마더세이프 - FASD 조기진단 (김고운 교수)](https://reader033.vdocuments.pub/reader033/viewer/2022052411/557a96e3d8b42aac568b47d6/html5/thumbnails/32.jpg)
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
![Page 33: 마더세이프 - FASD 조기진단 (김고운 교수)](https://reader033.vdocuments.pub/reader033/viewer/2022052411/557a96e3d8b42aac568b47d6/html5/thumbnails/33.jpg)
Further evaluation
Neurocognitive function test
Brain MRI
Functional Brain imaging
Digital photography
EEG
![Page 34: 마더세이프 - FASD 조기진단 (김고운 교수)](https://reader033.vdocuments.pub/reader033/viewer/2022052411/557a96e3d8b42aac568b47d6/html5/thumbnails/34.jpg)
Bayley III
베일리 발달척도는 대표적인 발달평가 도구로, 영유아를 대상으로
전반적인 발달 상태 및 정상적인 발달 상태로부터의 이탈 정도를 평가하기위해 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
![Page 35: 마더세이프 - FASD 조기진단 (김고운 교수)](https://reader033.vdocuments.pub/reader033/viewer/2022052411/557a96e3d8b42aac568b47d6/html5/thumbnails/35.jpg)
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
![Page 36: 마더세이프 - FASD 조기진단 (김고운 교수)](https://reader033.vdocuments.pub/reader033/viewer/2022052411/557a96e3d8b42aac568b47d6/html5/thumbnails/36.jpg)
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 능력을 평가함
– 10개의 소영역으로 구성되어 있음
– 의사소통, 기초학습(단어 인식과 수 세기), 자기지도(스스로를 통제, 지시따르기), 놀이, 사회관계(사람들과 어울리기), 외부활동, 가정생활(갂단핚집안일 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 있을수 있음
위의 사회-정서, 적응적 행동은 보호자의 보고에 의해 이루어짐
보조적인 평가를 위함
![Page 37: 마더세이프 - FASD 조기진단 (김고운 교수)](https://reader033.vdocuments.pub/reader033/viewer/2022052411/557a96e3d8b42aac568b47d6/html5/thumbnails/37.jpg)
Report example
인지, 언어, 운동 등의 영역에서 원점수를 통해 척도점수(10점이 50p)가산출되고, 최종적으로 표준점수(100점이 50%ile) 및 백분위가 산출됨
표준점수에 따라 [발달지연, 경계, 평균 하, 평균, 평균 상, 우수, 최우수]
등으로 분류됨
척도원점수
(raw score)
척도 점수
(scaled score)
표준 점수
(composite score)
백분위
(percentile)분류
인지 48 9 95 37 평균
수용성 언어 19 10
100 50 평균표현성 언어 20 10
소근육 운동 32 979 8 경계
대근육 운동 39 4
사회-정서 87 9 95 37 평균
![Page 38: 마더세이프 - FASD 조기진단 (김고운 교수)](https://reader033.vdocuments.pub/reader033/viewer/2022052411/557a96e3d8b42aac568b47d6/html5/thumbnails/38.jpg)
Thank you for
your attention