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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. Introduction. Fetal alcohol syndrome (FAS) The most severe form of FASD

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neuropsychological characteristics of fetal alcohol spectrum disorders

Neuropsychological Characteristics of Fetal Alcohol Spectrum Disorders

Mother Safe Conference


GounJeong, M.D.

Department of Pediatrics,

Cheil General Hospital & Women’s Healthcare Center

  • Fetal alcohol syndrome (FAS)
    • The most severe form of FASD
    • Facial anomalies
    • Growth retardation
    • CNS anomalies
  • Fetal alcohol spectrum disorder (FASD)
    • Effect of maternal alcohol consumption during pregnancy
    • Not a diagnostic term
    • Umbrella terminology
discovery of fasd
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
diagnostic criteria of fasd
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
revised iom criteria for diagnosis of fasd
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


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


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

variability of adverse fetal outcomes
Variability of Adverse Fetal Outcomes
  • the amount of alcohol
  • genetic variation
  • maternal nutrition
  • maternal age
  • socioeconomic status
  • the timing of exposure
  • 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

growth retardation
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

cns anomalies
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


    • 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
differential diagnosis
Differential Diagnosis

Dubowitz syndrome

Fetal anticonvulsant syndrome, especially hydantoin and valproate

Maternal PKU fetal effects

Noonan syndrome

Toluene embryopathy

Williams syndrome

Cornelia de Lange syndrome

Velocardiofacial syndrome

neuropsychological disturbances
Neuropsychological Disturbances

Cognitive impairment

Behavioral problems

Adaptive dysfunction

Academic difficulties

Psychiatric disorders

  • Overall intellectual performance
  • Executive function
  • Learning and memory
  • Language
  • Visual-spatial ability
  • Motor function
  • Attention
  • Activity level
general intelligence
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)


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
executive function
Executive Function
  • The ability to maintain an appropriate problem-solving set for attainment of a future goal
  • Related to frontal-subcortical circuit
    • 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
executive function problem solving and planning
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)

executive function concept formation and set shifting
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


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
executive function fluency
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
executive function inhibitory control
Executive function:Inhibitory Control
  • Stroop test



  • 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!

executive function working memory
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)


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)

learning and memory
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
learning and memory verbal learning and memory
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)
learning and memory nonverbal learning and memory
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
  • 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)
visual spatial ability
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

Constructional apraxia?

Although children with FAS were able to remember the essential features of a clock, they disregarded details like spacing between number

motor function
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

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 oculomotorcontrol
    • Poor sensory processing and sensorimotorperformance
    • Weak grasp

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


  • 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)


attention and activity levels
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
academic impairments
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
secondary disabilities
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
  • 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