fasd policlinic€¦ · pilot project of in-school prevalence, funded by nih-niaaa and lazio region...

FASD PoliclinicWinschoten

The Netherlands

Rudi KohlPediatrician

Hinke NicolaiMarianne Hofmans

Anita StaalmanAida Subasic

Psychologists

Trijnie ScheeveSecretary

PRE TEST – FAS ?

Terminology ?

FAS versus FASD

Source: Alcohol Health & Research World, Vol. 18, No. 1, 1994.

Prevention ?

• Teras = monster; Gennan = produce : monster producing

• Gale Encyclopedia of Medicine = any substance, agent or process that interferes with normal prenatal development , causing the formation of one or more developmental abnormalities of the fetus

• Marketed1/10/57 • Nausea/sleeplessness• 1960 : 40 countries• Teratogen• End 1961 : +/- 10,000 focomelia

• Viral teratogen

• Fetal death; abnormalities brain/heart/eye/ear

• From 1974 all girls, from 1987 all children vaccinated in the Netherlands

•Most common teratogen

•100% preventable

PREVALENCE ?

Pilot project of in-school prevalence, funded by NIH-NIAAA and Lazio Region (2003 -2005).

Italy is predominantly middle Socio-Economic Status (SES) with regular, moderate drinking, practiced during meals.

First population-based FASD epidemiology study ever in Western Europe.

EPIDEMIOLOGY OF FAS IN ITALYEPIDEMIOLOGY OF FAS IN ITALY

(May P., Ceccanti M. et al.)

*N=976 children screened**N=1988 assuming no children with FASD were missed by the consent and screening process

HOW MUCH IS SAFE ?

• Health Council of the Netherlands. Risks of alcohol consumption related to conception, pregnancy and breastfeeding.The Hague: 2005; publication number 2004/22

• “ The risks for the fertility and the (unborn) child become greater as more alcohol is consumed. Even at the lowest consumption levels safety is not guaranteed. The only safe option is to use no alcohol.

• This applies not only to women that want to become pregnant, are pregnant or are breastfeeding, but also for the partner in the period that women are trying to fall pregnant.

• It is of vital importance that information provided on this terrain should be uniform.”.

RISK PROFILES ?

• Caucasian• Age: > 30years• Good education• Good job• Good income• Smokes• Single• “Binge” drinking habit

• ADHD/ ASD• EXECUTIVE FUNCTIONS• CONSCIENCE• ALCOHOL EXPOSURE • FOSTER CARE

PROTECTIVEFACTORS ?

FASD PROTECTIVE FACTORS

• Stable nurturing home >72% of life

• Diagnosed < 6years

• No violence experienced against oneself

• Stable living situation for > 2.8yearsStreissguth

• SHH ( sonic hedgehog ) : secreted shh proteins give inductive signals in the patterning of amongst others, the ventral neural tube. ( mapping of brain areas ) – gets the right neuron to the right place

• HSF1 ( heat shock transcription factor1):enhances the genetic effect of alcohol through effect on gene expression via neural migration

• Rotenone ( pesticide,insecticide ): blocks effect of alcohol by reducing available ATP through its effect on mitochondria

• Maternal ADH 2*3 alleles: coding for a more efficient alcohol dehydrogenase enzyme, decrease the risk of FASD

• *Neural cell adhesion molecule L1

BENEFITS OFDIAGNOSIS ?

Benefits of Diagnosis

• Activate appropriate referrals• New way to understand difficulties• New strategies for home and community• Prevention of secondary disabilities• Prevention of future alcohol affected children• Better medical management• Build circle of support with respect & understanding

CADEC

HOW TO DIAGNOSE ?

www.fasdpn.org

• Associations between brain structure, chemistry, and function as assessed by MRI, MRS, fMRI and neuropsychological testing among children with FASDS.Astley et al: Alcoholism: Clinical & Experimental Research 2006;30(6):229A

“ Alterations in neurochemistry,neurostructure,and/or neurometabolism serve as compelling evidence of brain damage. MRI, MRS, and fMRI are sensitive , non-invasive tools for detecting this damage and may play an important role in the neurostructural/neurological component of the FASD diagnostic evaluation, when clinical norms are established “

• FAS/FASD• Astley 4 - digit code

GrowthFacialCNSAlcohol exposure

Copyright ©2006 American Academy of Pediatrics

Astley, S. J. Pediatrics 2006;118:1532-1545

FIGURE 1 Four-Digit Diagnostic Code grid

Astley et al. (2009), Figure 3.



FIGURE 3 Four-Digit Code FAS facial phenotype

FASD

THE BEHAVIOUR OF CHILDREN WITH

FAS(D) IS DIRECTLY RELATED TO

BRAIN DAMAGE

Edward P. Riley

BRAIN DOMAINS ?

Frontal lobe and Basal Ganglia

• Frontal lobes are thin and small : related to executive functions, motor function, spontaneity, memory, interpretation of environmental stimuli, taking risks, ( not) following rules, asiocative learning, social and sexual behaviour and language

• Basal ganglia are reduced in volume: related to regulating, programming and controlling function for all complex behaviour. Supervising and controlling function for emotion

Cerebellum

• Cerebellum reduced in volume: related to sensory feedback, attention, time evaluation and classic conditioning

Corpus Callosum

• Corpus callosum smaller and displaced:• Joins the brain hemispheres making it

possible to interlace and join information

• related to two handed co-ordination and handling of complex stimuli.

WHAT TO DO ?

• Safety and Structure/Structure/Structure

• Simple day program• Behavioural modification• Plan useful free time spending• Look for succesful acceptation and

dependence on appropriate external structures

• Look for independent functioning within these external structures

FASD : A QUESTION OF BOUNDERIES

• Children with FASD cannot define their boundaries. Are dependent on external structure for this

• They cross the boundaries that other people have• They cross the boundaries of their

(foster/adoption)parents• There are boundaries to their educability• There are boundaries to the acceptability of the

environment• There are boundaries for the diagnostician

• It’s not that I “won’t”• “It’s that I “can’t”• However, if you make environmental

modifications,• I “might”be able to with support

POST TEST FASD ?

FINISH

• Disrupted cellular energetics: altered glucose utilization and transport; suppression of protein and DNA synthesis: oxidative stress

• Impaired cell acquisition/dysregulated developmental timing: altered cell cycle;impaired neurogenesis and gliogenesis; mistimed events of cell generation, migration,neurite outgrowth,synaptogenesis and myelination

• Altered regulation of gene expression: reduced retinoic acid signalling; effects on other transcription factors

• Disrupted cell-cell interactions: inhibition of L1 cell adhesion molecule ( L1 CAM ) function

• Neural migration (10-14 weeks)• Gliogenesis (3-40 weeks)• Neural death (apoptosis)(20-40weeks)

Gressens et al; Alc + Alcoh;1992Goodlett et al; Exp.Biol.+ Med;2005Pignataro et al; J.Neurosci.; 2007

• Geschiedenis• Gezondheidsraad• Embriologie/Toxicologie• FAS/FASD/ Astley 4-digit code• Europese incidentie• THM

Bron: Astley et al. (2009), Tabel 3.

Dia 64

RK1 Kohl; 24-1-2010

HOW BIG IS THE PROBLEM?BACKGROUNDBACKGROUND

PASSIVE ASCERTAINMENTPASSIVE ASCERTAINMENT

ClinicClinic--basedbased

RecordRecord--basedbased

FAS 0,33 FAS 0,33 –– 2,0/10002,0/1000

FASD 9/1000FASD 9/1000

ACTIVE ASCERTAINMENTACTIVE ASCERTAINMENT

Minority, lowMinority, low--SES*SES*

Washington (Clarren KS 2001)Washington (Clarren KS 2001)

S.AFRICA FAS: 46S.AFRICA FAS: 46--75/1000 75/1000

FAS 3.1/1000FAS 3.1/1000

UNITED STATES TODAYUNITED STATES TODAYFAS 0,6FAS 0,6--3.0/10003.0/1000

FASD 10/1000FASD 10/1000

Prevalence of FASD in western Countries

Accurate éstimates of the prevalence and characterìstics of fetal alcohol syndrome (FAS) and fetal alcohol spectrum disorders (FASD) in a Western European population are lacking.

*SES: Socioeconomic-status*SES: Socioeconomic-status

Bron: Astley et al. (2009), Figuur 5.

• Geen veilige ondergrens van alcohol gebruik gedurende de zwangerschap

• Geen zeldzame syndroom maar onderdeel van een ernstig socio-maatschappelijke probleem

• 100% voorkombaar

Bron: Astley et al. (2009), Figuur 4.

fasd policlinic€¦ · pilot project of in-school prevalence, funded by nih-niaaa and lazio region...

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