Dr Kate Robertshaw Neurodevelopmental Paediatrician · Risk Factors influencing FASD Genetic factors Influencing maternal alcohol metabolism (McCarver et al 1997) Epigenetics (Haycock

Dr Kate Robertshaw

Neurodevelopmental Paediatrician

Hawke’s Bay DHB

28th Oct 2015

FASD are a spectrum of disorders linked to prenatal exposure to alcohol including

Alcohol Related Birth Defects (ARBD) Heart and kidney anomalies

Fetal Alcohol Syndrome (FAS) Pathognomonic cluster of

Growth impairment (<10th centile) Small palpebral fissures Thin upper lip Smooth philtrum Cognitive impairment

Partial Fetal Alcohol Syndrome (pFAS) Some facial features associated with severe impairment in 3 domains of

brain function in the presence of prenatal alcohol exposure

Alcohol Related Neurodevelopmental Disorder (ARND) Severe impairment in 3 domains of brain function in the presence of

confirmed prenatal alcohol exposure

Fetal Alcohol Syndrome

Alcohol is a teratogen (Uban et al C5 p73-108 in FASD-management and Policy perpsectives of FASD 2011 Wiley)

Readily crosses placenta and blood-brain barrier

Directly affects fetal growth and development (animal models)

Delays developmental processes and tissue differentiation eg cell division

Affects DNA and protein production esp in hippocampus, amygdala and cerebellum

Disrupts stem cell proliferation- neurons and glial cells

Apoptosis (programmed cell death) increased

Disorganises cortical architecture

Alcohol is a teratogen (Uban et al C5 p73-108 in FASD-management and Policy perspectives of FASD 2011 Wiley)

Indirectly affects fetus

Associated nutritional deficiencies (calories, protein, zinc, folate, vitamin A)

Abnormal calcium signalling

Altered prostaglandin interactions

Placental dysfunction

Interference with growth factors mediating cell proliferation, growth, differentiation and maturation

Oxidative and free radical damage

Disrupted endocrine balance- hypothalamic pituitary axis

Alcohol causes brain damagefrom research of Sterling Clarren

The tip of the iceberg

Why diagnose FASD?Good question… We have no firm idea how

much of it there is especially in NZ

We can’t fix it

We have very few teams set up to evaluate it

We have no services specifically to support families

We have no education services primed to respond

Diagnosis is made complex due to comorbid conditions and other developmental confounders

Other prenatal risk factors-P, cigarettes, poor maternal nutrition

Post natal environment-abuse , neglect, attachment

Diagnose FASD because Preventable

Likely very common

FASD are a result of brain damage which increase vulnerability to other stressors. FASD is a disability

Secondary disability is reduced with intervention

Social cost is significant and reduced with intervention

Specific assessment and support services are needed

We have to start somewhere


Likely very common






FASD is preventable Children who have not

been exposed to alcohol prenatally do not get FASD

There is no safe amount of alcohol in pregnancy nor safe time to drink

Prenatal alcohol exposure does not always result in FASD (Warren & Foudin 2001)

So why doesn’t everyone get FASD?

Risk factors influencing FASD Alcohol’s teratogenic effect can be moderated or

exacerbated Twin discordance (Warren & Li 2005; Streissguth & Dehaene,1993)

Amount of alcohol consumed in pregnancy and duration strongly linked to severity of FASD (Bonthius &West 1988; Maier, Chen & West 1996) but not a tidy linear relationship

Binge drinking more damaging than chronic exposure (Bonthius, Goodlett &

West 1988)

Higher risk of FASD with binge drinking than chronic exposure (Maier &

West 2001)

Risk factors influencing FASD Critical periods in fetal development influence type of

brain damage

Range of phenotype across FASD (Bertrand et al 2001)

QFT: Quantity, Frequency, Timing

Facial development week 3-4 post conception (day 19-21) (Sulik 2005)

Proliferation, migration and differentiation of cerebral cortex precursor cells in first trimester blocked by alcohol (Miller 1996) versus myelinisation occurring later

3rd trimester specific structures developing- hippocampus, cerebellum, prefrontal cortex (Livy et al 2003)

Embryonic development

How to get Fetal Alcohol Syndrome☺☺☺☺☺☺☺☺☺☺☺☺☺☺☺☺☺☺☺☺☺☺☺☺☺☺☺☺

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☺= day of pregnancy☺= earliest discovery of pregnancy☺= face developing

O’Leary-Moore et al, 2010

Risk Factors influencing FASD Genetic factors

Influencing maternal alcohol metabolism (McCarver et al 1997)

Epigenetics (Haycock 2009)

Environmental factors

Prenatal care & nutrition (Morgan & Levine 1988)

Poly substance abuse, maternal age, ethnicity, socioeconomic status (Warren & Foudin 2001)

Post natal environment

Child maltreatment (Oppenheim & Goldsmith 2007)


Likely very common






FASD is likely very common

We live in a ‘drinking culture’

Drinking in pregnancy (O’Keeffe et al BMJ 2015)

Prevalence and predictors of alcohol use during pregnancy

Multicentre cohort of 18000 from Ireland, UK, NZ and Australia

40-80% reported alcohol exposure in pregnancy (excl Ireland)

All social groups drinking

Less drinking with higher socioeconomic status, having other children, being overweight or obese

Caucasian more likely to drink than other ethnicities

Younger women less likely to drink than older (30-39yrs)

Heightened drinking with smoking

Growing up in NZ (Social Policy Evaluation and Research Unit, 2015)

6800 expectant mothers from GUiNZ study asked to recall alcohol consumption in pregnancy

29% complete abstention (Pacific/Asian/low income/disadvantaged)

43% stopped once they knew and then abstained (European/advantaged)

16% stopped after 1st trimester (younger/ Maori/disadvantaged)

9% stopped and started (European/advantaged)

2% drank continuously at least 1 drink /week (older /Maori/ disadvantaged/ smokers)

Drinking unrelated to whether pregnancy planned

Don’t know? Don’t drink.

Whilst there is awareness of the risk of drinking in pregnancy broadly

We adjust the message to the one we want to hear

There is a disconnect about the period before you know you are pregnant

www.alcohol.org.nz

Prevalence FAS

USA - 0.5-2.0/1000 births (May & Gossage 2001)

South Africa Cape Coloured community – 46.4/1000 births (May et al 2000)

Canada – 0.52-14.8/1000 births (Habbick et al 1996, Williams, Odaibo & McGee 1999)

FASD estimates Canada – 9/1000 births (Health Canada 2006)

USA – in school case ascertainment study 2-5/100 (May et al 2009)

Guestimate in NZ 10 in a 1000 births?

Compare to Down syndrome: 1/1000 (CDC 2015)

Autism: 4/1000 (Baird et al 2006)

Cerebral Palsy: 1.5-4/1000 (CDC 2015)

FASD: 10/1000


Likely very common






FASD – complex disability Comprehensive multidisciplinary assessment including

Paediatrician/psychiatrist

Psychologist

Speech-language therapist

Occupational therapist

Social worker

Canadian Harmonisation of Washington 4 digit code (Chudley et al 2005)

Significant impairment in 3 non overlapping domains of function

FASD diagnosis- domains of brain dysfunction Intellectual (WISC-IV) Academic achievement (WIAT-II) Attention (Conners’ 3) Motor, sensory, visuospatial (Beery VMI, Sensory Profile) Communication – basic and higher level social communication

(CELF-4, TNL) Memory- encoding, retrieval and working memory (CMS, NEPSY) Executive function – judgement, inhibition, mental flexibility,

switching, problem solving, planning and sequencing (RCFT, DKEFS,NEPSY, SLDT, TOPS)

Adaptive function – independence skills, later employability (Vinelands, ABAS)

Head circumference

Formulation


Likely very common






Secondary disabilities(Streissguth et al 2004)

Lifespan prevalence reported by adolescents and adults with FASD:

Disrupted schooling (61%)

Trouble with the law (60%)

Confinement (youth detention or prison, psychiatric or AoDfacility) (50%)

Inappropriate sexual behaviour (repeated) (49%)

Alcohol or drug problems (35%)


Likely very common






Social costs Thanh & Jonsson 2009 (Canadian)

FASD- all ages

Prevalence 3-9/1000

Lifetime cost per case

Includes

Direct health costs

Social services support

Special education costs

Out-of pocket costs for families

Loss of family/caregiver productivity

CA$138- 414 million/year (NZ$156-469 million/year)


Likely very common

FASD is a disability





Modify you approach if the child has FASD Do you work with parents or child or both?

Can you used a language based intervention or do you need to approach it differently?

How can you prevent the child being put in situations they can’t handle?

Supervision (what do the family understand by that)

How do you support them and advocate for them if they do get traumatised or involved with Youth Justice?

FASD specific interventions Need to take into account the differences between brain

injury caused behaviour and attention problems and those caused by attachment or trauma.

Brain damage reduces resilience and impedes recovery from trauma

Treatment approaches need to accommodate the individual brain differences

Resources e.g. Treatment Improvement Protocol 58. Addressing FASD. Substance Abuse and mental health Services Administration. www.samhsa.gov


Likely very common

FASD is a disability





Hawke’s Bay experience Started recognising FASD

Took training opportunity (Thanks to Alcohol HealthWatch)

Decided FASD was just part of what we do- not new- just not done properly before

Put assessment pathway together (HPA website)

Communicated with our community (a lot)

Continuous service development

FASD education (2 modules)

Hawke’s Bay ExperienceYear No of children assessed

2010

2011

2012

2013

Year No of children assessed

2010 5

2011 5

2012 11

2013 22

2014 17

2015 – to date 11

Hawke’s Bay experience 53M:18F

Age range No of children %

<8yr 2 3

8-11yr 41 60

>12yr 25 37

Hawke’s Bay experienceDiagnosis No of children %

FAS 2 3

pFAS 9 13

ARND 53 76

No FASD diagnosis 6 9

Comorbid diagnosis No of children %

Intellectual Disability 29 41

ADHD 33 47

Severe language disorder 48 69

Other mental health 5 7

Health Promotion Agency evaluation http://www.alcohol.org.nz/sites/default/files/docum

ents/HBDHB Development Assessment Programme FASD Assessment Pathway

Process evaluation looking our team’s strengths and challenges Lots of positives but you learn and develop by looking at the challenges

Challenges Waitlist

Lack of post-assessment support for the FASD assessment pathway

Complexity/ length of reports

Maintaining the team

Disconnect between Health and Education approaches

Engaging families

Cultural responsiveness

On the horizon DSM-V: Neurodevelopmental Disorder associated with

prenatal alcohol exposure

New Canadian Guidelines (imminent)

National FASD Action Plan (MoH)

Need for NZ prevalence data to drive service provision

Need to look at interventions that would work well in the NZ context

Please find your somewhere and start…

Thankyou

Documents

Dr Kate Robertshaw Neurodevelopmental Paediatrician · Risk Factors influencing FASD Genetic factors Influencing maternal alcohol metabolism (McCarver et al 1997) Epigenetics (Haycock