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Fetal Alcohol Spectrum Disorder/ 정고운
1. Neuropsychological Characteristics of
Fetal Alcohol Spectrum Disorders
Mother Safe Conference
2013.04.16.
Goun Jeong, M.D.
Department of Pediatrics,
Cheil General Hospital & Women’s Healthcare Center
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
– Umbrella terminology
3. Discovery of FASD
• 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
4. Diagnostic Criteria of FASD
• 2000, Astley and Clarren
– 4-Digit Diagnostic Coding system
– To eliminate the ambiguities of IOM system
• 2005, Chudley et al.
– Canadian Diagnostic Guidelines
– IOM system + 4-Digit Diagnostic Code system
• 2005, Hoyme et al.
– Revised IOM Diagnostic Classification System
5. Revised IOM Criteria for Diagnosis of FASD
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
6. 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
7. 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
9. Variability of Adverse Fetal Outcomes
• the amount of alcohol
• genetic variation
• maternal nutrition
• maternal age
• socioeconomic status
• the timing of exposure
12. Timing?
• Facial signs of FAS are most evident between
8 months - 8 years of age
• In adolescent or adult, earlier childhood pictures may be
useful to uncover facial features
• Not smiling
Smile lead to narrowing of the upper lip
and thinning of the philtrum
13. Growth Retardation
• Growth pattern characteristic of FASD usually presents in
the prenatal period and persists as a consistent
impairment over time
• Usually below 10 percentile
Growth delay may diminish
in adolescence and adult
14. 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,verbalmemory,impulsiveness
15. • 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
• Corpus callosum
– role in the coordination of various functions
– Agenesis, thinning, hypoplasia, partial agenesis
17. Differential Diagnosis
Williams syndrome Cornelia de Lange
syndrome
Velocardiofacial
syndrome
Dubowitz syndrome
Fetal anticonvulsant syndrome, especially hydantoin and valproate
Maternal PKU fetal effects
Noonan syndrome
Toluene embryopathy
18. Neuropsychological Disturbances
Cognitive impairment
• Overall intellectual
performance
• Executive function
• Learning and memory
• Language
• Visual-spatial ability
• Motor function
• Attention
• Activity level
Behavioral problems
• Adaptive dysfunction
• Academic difficulties
• Psychiatric disorders
19. General Intelligence
• The majority of FAS are not intellectually disabled
• FAS is considered one of the leading identifiable causes
of mental retardation (Abel and Sokol 1987; Pulsifer 1996)
• Many affected individuals exhibit impaired intellectual
abilities, even in the absence of facial features, growth
retardation (Dalen et al. 2009; Mattson et al. 1997)
• Significant relation between general cognitive function
and degree of dysmorphic features and growth deficiency
(Ervalahti et al. 2007)
20. • FAS have mean IQ scores significantly lower than those
with partial FAS and ARND (Chasnoff et al. 2010)
• Average IQ estimate of individuals with heavy prenatal
alcohol exposure
– 70 for FAS (Streissguth et al. 1991)
– 80 for nondysmorphic individuals (Mattson et al. 1997)
• IQ score is significantly correlated with psychopathology
– Children with moderate and severe intellectual
disability experienced greater psychiatric disturbance
– IQ score below 50 indicated poor psychiatric outcome
(Steinhausen et al. 1994)
• Results of lower levels of alcohol exposure have been
conflicting
21. Executive Function
• The ability to maintain an appropriate problem-solving
set for attainment of a future goal
• Related to frontal-subcortical circuit
• BRIEF
– Behavior Rating Inventory of Executive Functioning
– Parent/teacher report of executive function in children
– Children and adolescents ages 5-18
– 86 items questionnaire
– 8 subscale and 2 validity indices
22. Executive function:
Problem-Solving and Planning
• Increased perseverations on incorrect strategies
• Increased rule violations
• Fewer passed items overall
(Aragon et al. 2008; Green et al. 2009;
Kodituwakku et al. 1995; Mattson et al. 1999)
23. Executive function:
Concept Formation and Set-Shifting
• Difficulties forming and identifying abstract concepts and
shifting to new conceptual categories
• More errors and complete fewer categories on the
Wisconsin Card Sorting Test (WCST) (McGee et al. 2008)
• Differences among groups of alcohol-exposed children
(FAS, partial FAS, and ARND) were not significant
(Chasnoff al. 2010)
Wisconsin Card Sorting Test
http://ertslab.com/web/portfolio/card-
sorting-test
24. • Completed fewer sorts and received fewer points for their
description using California Card Sorting Test of the
Delis-Kaplan Executive Functioning System (D-KEFS)
(McGee et al. 2008)
• Less able to generate concepts independently
• Less able to recognize categories when cued by the
examiner
• Needed more sentences to form a correct response
• Made more set loss errors (Mattson and Riely 1991)
• Difficulties forming and shifting concepts and thinking
analytically
25. Executive function:
Fluency
• Deficits on both traditional and set-shifting measures of
verbal and nonverbal fluency
• Although deficits are noted in both letter and category
fluency, deficits are greater on letter fluency tasks
(Kodituwakku et al 2006;Mattson and Riley 1999;
Rasmussen and Bisanz 2009; Vaurio et al. 2008)
• Findings within the nonverbal domain have been unclear
26. Executive function:
Inhibitory Control
• Stroop test
Green Red Blue Purple Blue Purple
Blue Purple Red Green Purple Green
• Children with prenatal heavy alcohol exposure make
more error, particularly on the switching and interference
conditions (Connor et al. 2000;Mattson et al. 1999)
• Poor Go/No-go task
Click on the PLAIN green dot when it appears. IGNORE the patterned dot!
http://cognitivefun.net/test/17
27. Executive function:
Working Memory
• Deficits in the ability to hold and manipulate information
in working memory (Green et al. 2009; McGee et al. 2008)
Verbal working memory
• Digit span subtest of the Wechsler Intelligence Scales for
Children (WISC)
short-term auditory memory and attention (verbal memory)
For Digit Span forward tester would read numbers like "2, 3, 9, 1"
and child would respond with the same numbers
For Digit Span backward the tester would read numbers like "24, 3, 7, 12"
and child would respond "12, 7, 3, 24"
• Recall fewer digits, especially backwards condition
(Aragon et al. 2008; Carmichael Olson et al. 1998; O’Hare et al. 2009)
28. Visuo-Spatial working memory
• More errors and poorer use of strategy on a
computerized task of spatial working memory
(Green et al. 2009)
Cambridge Neuropsychological
Test Automated Battery (CANTAB)
29. Learning and Memory
• Hippocampus is particularly sensitive to the teratogenic
effects of prenatal alcohol exposure (animal study)
• A number of clinical studies have reported learning and
memory deficits in children with heavy alcohol exposure
• Impaired both verbal and nonverbal skill
30. Learning and Memory:
Verbal Learning and Memory
• Deficits in both learning and recall of verbal information
(Mattson et al. 1996; Mattson and Roebuck 2002)
• These deficits are present in both children with and
without the physical features of FAS
(Mattson et al. 1998; Mattson and Roebuck 2002)
• Children with FASD exhibit superior memory during both
immediate and delayed recall involving a story rather
than word list
• Recalled more information on the story task but also
encountered more inaccurate information (Pei et al. 2008)
• These abilities might improve with age in less affected
children (Richardson et al. 2002; Willford et al. 2004)
31. Learning and Memory:
Nonverbal Learning and Memory
• A lower rate of learning across acquisition trials and less
recall of information after a delay period
• Limited research and inconsistent results
32. Language
• Wide range (Abel 1990)
– absence of comprehensible speech
– mild dysarthria or lisping
• Poor receptive language (Russel et al. 1991)
• Impairments include
– Word comprehension (Conry 1990; Matton et al. 1998)
– Naming ability (Mattson et al. 1998)
– Articulation (Becker et al. 1990)
– Grammatical and semantic abilities (Becker et al. 1990)
– Pragmatics (Abkarian 1992)
– Expressive and receptive skills (Aragon et al. 2008)
33. Visual-Spatial Ability
• Limited research
• Beery-Buktenica Developmental Test of Visual Motor
Integration
– copy drawings of geometric forms
– Visual perception
– Motor coordination
– The full (27 items) 7yr- adult
– The short (18 items) 3-7yr
36. Motor Function
• Heavy alcohol exposure: impairment both fine and gross
motor skill
• Young children with FAS show clinically important
developmental delay in fine but not gross motor skills
(Kalberg et al. 2006)
• Teratogenic effects of alcohol to brain regions associated
with motor functioning such as the cerebellum and BG
37. • Other findings of motor impairment
– Postural instability
– Atypical gait
– Delayed motor reaction timing
– Impaired fine motor speed and coordination
– Increased motor timing variability
– Poor hand/eye coordination
– Dysfunctional force regulation
– Atypical trajectories in goal-directed arm movement
– Impaired oculomotor control
– Poor sensory processing and sensorimotor performance
– Weak grasp
38. • Peripheral motor nerve damage
– Atypical muscle development
– Reduced motor neurons
– Poor peripheral nerve myelination
– Slowed nerve conductivity
• Skeletal malformations of the hands and feet
• Delayed skeletal maturity
39. • Does the observed deficits persist into adolescence and
adulthood?
– Adults with FASD perform worse than controls on
tests of fine motor control and balance and that the
dose-dependent effects of alcohol on motor
coordination during childhood continued to be
apparent in adulthood among individuals previously
diagnosed with FAS or ARND (Connor et al. 2006)
– In a subsequent study with adolescent subjects, group
differences were not observed (Simmons et al. 2006)
NO
YES
40. Attention and Activity Levels
• Hyperactivity and attention deficits are frequently
observed in individuals with heavy alcohol exposure
– Attention deficit in more than 60% of prenatal alcohol
exposed children (LaDue et al. 1992)
– higher rate of ADHD (Fryer et al. 2007)
– hyperkinetic disorder (Steinhausen et al. 1993)
• Attention deficit is not global
– differential deficits in visual and auditory attention
41. Academic Impairments
• Difficulties in academic function
– Both verbal (reading and spelling) and mathematics
even after controlling for IQ
– Mathematics has emerged as a specific weakness
– Maybe associated with abnormalities in left and right
parietal regions and the medial frontal gyrus
42. Secondary Disabilities
• Wide range of maladaptive, behavioral and emotional
disturbances
• Psychiatric problem
– ADHD
– schizophrenia, depression, personality disorders
– Increased risk for major depressive disorder in
childhood
• Disrupted school experience
• Dependent living
• Trouble with the law
• Inappropriate sexual behavior
• Addiction
43. Conclusion
• Individuals exposed to alcohol during pregnancy exhibit
a wide range of long-lasting impairments in
neuropsychological and behavioral domains
• Affected children perform relatively well on simple task
but show greater impairment on more complex tasks
• Recent studies have examined the specificity of these
deficits through development of a neuropsychological
profile
