Dr. Christine Loock, MD, FRCPC, DABPDevelopmental Pediatrician, Vancouver, Canada

FASD Diagnostic Updates:

International Meeting on

Indigenous Child Health

April 1, 2017 Denver, Colorado, USA

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DISCLOSURE

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All slides and photographs are used with permission of my teachers, mentors and colleagues.

Dr Loock does has no relevant financial relationships with the manufacturer(s) of commercial services discussed in this CME activityDr Loock does not intend to discuss any unapproved/investigational uses of commercial products in this presentation

Taking a Lifespan Perspective

Larry Burd, 2017

Objectives

1. Diagnosis: Provide an update on FASD diagnosis, highlighting prevalence, clinically important features, and indications for follow-up.

2. Transition: Provide perspectives from adults with FASD who have many things to teach us.

3. Prevention: Discuss moving beyond stigma & stereotypes to different ways of seeing & doing.

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“FAS is the tip of the iceberg.” -Ann Streissguth

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Prenatal exposures (including FASD) can have later whole body effects.

Medicine Wheel Two Eyed Seeing

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Elsipogtog First Nation

New Brunswick, Canada

From Dr. Lori Cox

Slaying Stigma & Stereotypes Legends of the 2 Headed Serpent

From Tsleil-Waututh Nation’s History, Culture and Aboriginal Interests in Eastern Burrard Inlet [Vancouver , Canada]

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Why make a diagnosis?

CommonExpensivePreventable

For Prevention, Improved Outcomes, & Support

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PEDIATRICS, NO. 34(5)Nov., 2014

Further Findings on FASD in the Same General Population City

In two additional samples in this same city, preliminary findings* presented at the 7th International Conference on FASD:

There were no differences in FASD rates by race or ethnicity in any of these samples (χ2 = 2.237 , df = 1, p = .135).

Rocky Mtn. City Preliminary Site Rate/1000

FAS 4.1

PFAS 36.7

ARND 27.7

Total FASD 68.4 (6.8%)

* Used with permission of the authors/presenters: May, Jones, Hoyme, Coles et al 2017.Loock 2017

Prevalence of Alcohol Use During Pregnancy in Canada (any amount, and at any point during pregnancy)

(Range: 0.5% to 30.1%) (Range: 24.3% to 60.5%)General Population Northern CommunitiesLoock 2017

10.0%

14.6%17.0%

2.0%

7.5%

17.5%14.4%

10.5%

0.5%

10.5%

2.0%

30.1%

10.8%11.2%

22.3%

0.6%

16.8%

9.9%

34.5%

48.8%46.0%

50.8%

26.3%24.3%25.3%

60.5%

0.0%

10.0%

20.0%

30.0%

40.0%

50.0%

60.0%

70.0%

Popova S.

Prevalence of FASD in CanadaGeneral Population vs. Northern Communities

General Population Northern Communities

Prev

alen

ce (p

er 1

,000

)

(Range: 7.0 to 189.7 per 1,000)(Range: 5.3 to 11.7 per 1,000)

5.3 9.0 11.7

32.8

189.7

95.0101.1

7.0

0

20

40

60

80

100

120

140

160

180

200

Asante & Nelms‐Matzke, 1985PHAC, 2003Thanh et al., 2014Asante & Nelms‐Matzke, 1985Robinson et al., 1987Square, 1997Kowlessar, 1997Werk et al., 2013

Popova S.

The Lililwan study: population-based n=108, mean 8.7y, 7.4-9.6

High rates of FASD 1 in 5

(19%)FAS/pFAS (12%)ND-AE (7%)Physical problemsGrowthBehavioural problems Mental health IQMemoryAcademic achievementExecutive functionspeech and languageMotor skillsMental health

E. Elliott

“Labels” vs. Diagnosis

Reserved for Jam Jars and Beverage 

Alcohol

Blueprint for interventions

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Why make an etiological diagnosis?

Natural HistoryPrognosis/ Early DetectionRecurrence RiskPreventionEarly InterventionRefer other siblingsSupport for momSupport for whole familySupport for ADULTS!

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Natural History: Fetal Alcohol Syndrome (FAS) Life expectancy 34 years (95% CI : 31 to 37 years)

External Causes[Adversity] 44%

Mortality rate of people with FAS is 7.4 to 73.3 times higher (depending on age group). suicide (15%)accidents (14%)poisoning by alcohol/ illegal drugs (7%)other external causes (7%)

Diseases of Organ Systems[FAS/PAE Effects] 43%

nervous system (8%)respiratory systems (8%)digestive system (7%), congenital malformations (7%), mental and behavioral disorders (4%)circulatory system (4%)cancers 3%endocrine 2%. from Thanh & Jonsson, March 2016  

(Alberta Data 2003‐2012) Loock 2017

Support [birth] moms. 

• Multiple mental health disorders

• Almost universal experience with early childhood abuse

• Limited social support /co‐dependent partner

• Half estimated to have FASD themselves

• So, who is our patient? 

Toulouse‐Lautrec ~1895

Astley, Bailey, Talbot, Clarren, 2000Loock 2017

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What is FASD and how is it diagnosed?

Harmonizing FASD Around the Globe

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What is FASD and how is it diagnosed?

Institute of Medicine (IOM) FAS 1996; Revised 2016

Canadian FASD Guidelines CMAJ 2015

UW FASD DPN 4 Digit (3rd Ed) 2004

Harmonizing FASD

FASD

Fetal Alcohol Spectrum Disorder– A disorder with VARIABLE patterns of cognitive, behavioural and morphological deficits associated with in utero alcohol exposure

– Now a diagnosis, not just an 

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Growth (ht or wt <10%)

Facial features (sentinel facial features)

Brain (includes OFC)

Partial FAS (PFAS)

Alcohol Related Neurodevelopmental Disorder (ARND)

Fetal Alcohol Syndrome (FAS) TRIAD

FETAL ALCOHOL SPECTRUM DISORDER[S]

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FASD Sentinel Facial Features The UW 4 DIGIT Approach

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UW 4‐Digit LIKERT SCALES: EXCELLENT FOR TRAINING & TRACKING DATA  

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FASD without sentinel facial features (w/o SFF)

ARND no more “partial FAS” FAS (SFF)

FASD with sentinel facial features SFF

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CANADA: Nothing is

partial!

Simplified Canadian Terminology

DIAGNOSIS DESIGNATION

FASD with Sentinel Facial

Findings

FASD without Sentinel Facial

Findings

At Risk*

PAE Not required Confirmed Confirmed

FACE 3 Facial Features None required None required

BRAIN 3 domains of impairment (or

microcephaly for infants)

3 domains of impairment

At least 1 domain of impairment

*At Risk for Neurodevelopmental Disorder and FASD, Associated with PAE

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2015 Ten Domains 

1. Neuroanatomy/ Neurophysiology 

2. Cognition3. Language4. Academic 5. Adaptive6. Attention7. Memory8. Motor Skills9. Executive Functioning10. Mood Regulation

2005 Nine Domains 

1. Brain Structure (OFC, MRI)2. Cognition3. Communication 4. Academic5. Adaptive6. Attention7. Memory8. Hard & Soft Neurologic Signs9. Executive Functioning 

CANADIAN FASD BRAIN DOMAINS

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Severe and Pervasive ( > 2 S.D.) in 3 domains

New DSM-5 Super-Domains

Super- Domains

1. Neurocognitive (1)2. Self-Regulation (1)

– e.g. attention, mood

3. Adaptive (2)4. Onset in childhood5. Prenatal alcohol exposures

(PAE) – Known (vs. unknown)

6. Non-Dysmorphic vs. Dysmorphic– SFF: Sentinel facial features

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1. Neurodevelopmental Disorder (NDD) associated with prenatal alcohol exposure) 315.8

2. Unspecified Neurodevelopmental Disorder (NDD) 315.9

(e.g. ACES; Suspected / At-Risk FASD)*

Neurodevelopmental Disorders (DSM‐5)

Canadian FASD Guidelines (2015) require 3 of 10

* Consider using to respect family privacy or when more information is needed.

Comparing Other FASD Diagnostic Systems

All are more alike

than different!

Remember, these are all guidelines, n

ot laws!

4 Digit Code

USA UPDATESHoyme ‐ Peds       Aug 2016

“ND‐PAE” Hagan AAP‐

Peds  Oct 2016 

CanadaCMAJ 

Dec 2015

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Encircling Our FASD Diagnostic Systems:  Medicine Wheel TES   

4 Digit Code“ND‐PAE”

Case – Infant W

• Born w/ cleft palate  repaired; Growth <10th %ile; 

• Multiple dysmorphic  features• OFC < 3rd %ile• Murmur VSD• Mother reported no alcohol 

exposure in utero• GDD: Followed by bi‐annually by 

Cleft Team• Initiated microarray  (r/o 22q11 

deletion)‐ normal• Mother died suddenly • New collateral history from 

family ……Loock 2017

Identify the Child with FASD

Dubowitz Syndrome 

DeLange Syndrome

22Q11.2 Del‘DiGeorge’ / ‘Velocardiofacial’

Syndrome

Manning & Hoyme (2007)Loock 2017

When are facial features important in FASD Diagnosis?

PAE Confirmation

Dysmorphic“3 SFF”*

Neurodevelopmental Disorder associated

with:

Brain 3 (or 4)

Yes(Face 4)

Unknown hx (2)

No(Face <4)

PAE 3 PAE 4

Answer: When PAE history is unknown! But still do microarray to exclude phenocopies! Cannot be PAE 1 (no PAE)!

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When to consider FASD without sentinel facial features?

MultiplePervasive Unexplained

Red Flags (‘Alarmers’)

Adaptive (Safety)Language/ LearningAttention (& Anxiety)Reasoning (Verbal IQ often weaker)Memory (& Math)Executive Function Relationships (Social)Sensory Integration (pain, touch, taste, smell ) + vision & hearing

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*Julie Conry and Diane Fast, 2000

Neurotoxin = Brain Injury

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Variability 

PRENATAL FACTORS• Dosage• Timing of Exposure• Pattern of Exposure• Maternal BMI• Maternal Age• Genetics

POSTNATAL FACTORS • Nutrition• Socioeconomic factors• Environmental Enrichment

• ACEs

Paley, B. & O’Connor, M.J. (2011). Behavioral Interventions for Children and Adolescents With Fetal Alcohol Spectrum Disorders. Alcohol Res Health. 34(1): 64–75.

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Adverse Childhood Experiences (ACE’s)*

Deck of 10 ACE’s:1. Physical neglect2. Emotional neglect3. Physical abuse4. Emotional abuse5. Contact sexual abuse6. Mother treated violently7. Parental Separation (e.g. only one or no parents)8. Household substance abuse (alcohol and/or drugs) 9. Incarcerated household member10. Household mental illness (e.g. chronically depressed, 

mentally ill, institutionalized, or suicidal)*Centers for Disease Control (R.F. Anda, MD) & Kaiser Permanente (V.J. Felitti, MD) of > 17,000 adult participants, grouped by decade of birth (going back to 1900) collected between 1995‐1997

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Fetal Toxic Stress also = Brain Injury

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The HPA Stress Axis(Hiller-Sturmhofel & Bartke, 1998)

Stress, circadian changesactivate HPA axis

↓Cascade of responses

↓Increased hormone levels (ACTH, glucocorticoids:cortisol, corticosterone)

↓Feedback to pituitary, hypothalamus, hippocampus and other brain areas (eg. PFC) →Decreased hormone levels

STRESS & FASD “Fetal Adversity & Stress Disorder”

Credit to Weinberg et al 2017

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Credit to Dr. Ni Lan

2016 FASD ADULT HEALTH SURVEY (n=327):

Mixed CausesMood/Anxiety DisordersThought DisordersSubstance Use DisordersPTSD/ADHDOther Mental HealthSleepSensory

– Myopia 47%(30%)

– Amblyopia 22%(3%)

– Hearing 15%(0.3%)

Top 5 Diseases of Organ Systems

1. All Autoimmune [5-8%] 30-35%1. Type 1 Diabetes [0.39%] 2.5%

2. Respiratory– Chronic sinusitis [13 %] 34% – Allergies [40%] 52%– Asthma [9%] 33%

3. Hypertension [8%] 15%4. Congenital heart [0.3%] 7.4 %

– All Birth Defects [2-4%] 5. Skeletal All [no data)] 27-44%

– Scoliosis [3%] 17%

NEED FOR TRANSITION, EARLIER DETECTION & CARE

p/c Myles, Emily & CJ: 7th Biennial UBC FASD Conference Vancouver 2016Loock 2017

“FASD is a whole body lifelong condition. …We are people, not adjectives…. We need support as adults too”.

Pediatrics & Adolescents Adults

Myles, CJ, and Emily: Co-Authors of the FASD Adult

Health Survey, 2016

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Two Eyed SeeingHow else  to talk about FASD:

1. Fetal Stress Disorder – Alcohol can be a marker of  

maternal stress. 

2. Family Adversity & Stress Disorders: FASD or F‐ACES

3. FASD means you may have trouble making choices. 

4. Friendships, Acceptance, Support & Dignity

‐ KG

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Thank you to my co-authors, colleagues and my ‘patient’ teachers.

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The End

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7th International FASD Conference- March 2017

Let’s Talk:Stigma & Stereotypes –

Where Do We Begin?

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What is the purpose of stigma?

No PurposeDivide and categorizePermits avoidance of actionPower and controlSeparate have/have notProcess of ‘othering’Blame and shameProtectionCreates and maintains dependency

Opens the door for discussionTo educateTo assess ourselvesHelp someone fit into a systemDecrease fear and anxietyAllows us to find fundingIt pays the bills!Way for brain to rationalize

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Where do we begin to change stigma and why?Start with ourselvesMake it safe to talk about FASD.Consider different names for different audiences (“NDD, ACES, Toxic Stress, FASD, FACES, CARDs). Improve understanding of why women drink in general and while pregnantNeed to find champions for FASDStay strengths-based.Have a longer lens : transitions & lifetime trajectoryIt starts today: talk to those around you.

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“FAS is the tip of the iceberg.” -Ann Streissguth

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