FASD Diagnosis, Intervention, & Prevention

Transcription

1 FASD Diagnosis, Intervention, & Prevention Susan Astley PhD Professor Director Washington State FAS Diagnostic & Prevention Network University of Washington Seattle WA, U.S.A fasdpn.org 07 WA State FAS Diagnostic & Prevention Network (fasdpn.org) Celebrating our 5 th Year The FASD -Digit Diagnostic Code Used worldwide since 997 What is Fetal Alcohol Syndrome (FAS)? FAS is characterized by:. Growth deficiency. Unique facial features. CNS abnormalities (evidence of structural, neurological, or functional impairment). Prenatal alcohol exposure Prevalence: to per,000 live births (equivalent to down syndrome). Leading known cause of developmental disabilities. 00% preventable. FAS DPN, University of Washington, Seattle

2 Interdisciplinary FASD Diagnostic Clinic An FASD diagnosis is conducted: by an interdisciplinary team using rigorous diagnostic guidelines. Interdisciplinary clinical team includes: Pediatrician Psychologist Speech Language Pathologist Occupational Therapist Social Worker Family Advocate The University of Washington FASD diagnostic evaluation is conducted in one -hour appointment using the FASD -Digit Code. Caregiver(s) is interviewed by pediatrician and social worker Child is assessed by the SLP, OT, and psychologist Diagnosis and Intervention Plan are shared with caregivers Comprehensive medical report mailed to family. FASD -Digit Code Tools All tools available at fasdpn.org The FASD -Digit Code is Fully Validated Astley SJ. Validation of the fetal alcohol spectrum disorder (FASD) -Digit Diagnostic Code. J Popul Ther Clin Pharmacol Vol 0():e6-67;November 5, 0. Audio Narrated pdf Published Paper lid0far.pdf FAS DPN, University of Washington, Seattle

3 Rank Susan Astley PhD, Prof. The FASD -Digit Diagnostic Code < % All features Structural / Neurological Abnormalities Confirmed High - 5 %.5 features Severe Dysfunction Confirmed 6-0 % - features Moderate Dysfunction Unknown > 0 %tile No features No Dysfunction Confirmed Absent Growth Face CNS Alcohol is one of twelve -Digit Codes for FAS Example of -Digit Codes for FAS and PFAS A B FAS (alcohol exposed) FAS (alcohol exposure unknown) C Partial FAS (alcohol exposed) -Digit Code produces FOUR Diagnostic Subgroups under the umbrella of FASD Diagnosis Growth FAS Face Brain Alcohol. FAS Fetal Alcohol Syndrome growth face severe alc. PFAS Partial FAS face severe alc. SE/AE Static Encephalopathy / Alc Exposed severe alc. ND/AE Neurobehavioral Disorder / Alc Exposed moderate alc FAS DPN, University of Washington, Seattle

4 Diagnostic Outcomes of,000 Patients % % 0 % 6 % FAS/PFAS SE/AE ND/AE Norm CNS/AE Severe CNS + FAS Face Severe CNS No Face Moderate CNS No Face Normal CNS No Face Gender, Racial and Age Profile of,000 Patients Gender, Age Clinic Male 58% 0- yrs 8 % -6 yrs 7% 6-5 yrs 55% 6 + years 0 % Race Clinic WA State White 9 % 8% Black 7 % % Native American/Alaskan 8 % % Asian < % 6 % Prevalence of FAS/D Prevalence of FAS General population /,000 Foster Care / 00 FASD Clinic / 0 For every child with FAS, there are 0 times more with FASD Prevalence of FASD FASD /00 Autism / 5 Prevalence of FAS FAS /000 Down syndrome / 000 FAS DPN, University of Washington, Seattle

5 Structural and Functional Brain Abnormalities 00 IVA: Auditory and Visual, Attention and Response Control Quotients Prevalence of CNS Abnormality mean 95% CI FAS/PFAS SE/AE ND/AE Control 0 ND/AE SE/AE FAS/PFAS FASD Study Groups VIS: Attent AUD: Attent FULL Attent VIS: Resp Cntrl AUD: Resp Cntrl FULL: Resp Cntrl VIS: Attent AUD: Attent FULL Attent VIS: Resp Cntrl AUD: Resp Cntrl FULL: Resp Cntrl VIS: Attent AUD: Attent FULL Attent VIS: Resp Cntrl AUD: Resp Cntrl FULL: Resp Cntrl VIS: Attent AUD: Attent FULL Attent VIS: Resp Cntrl AUD: Resp Cntrl FULL: Resp Cntrl Brain Structure Brain Function The structural and functional abnormalities of the brain become more severe as you advance from ND/AE to SE/AE to FAS/PFAS. Proportion of subjects with FSIQ < 70 increases with increasing severity of -Digit Code FASD diagnosis FAS Face NO FAS Face FSIQ < 70 FAS/PFAS and SE/AE must meet the same diagnostic threshold for severe dysfunction. That said. Those who meet that threshold and have the FAS Face (FAS/PFAS) have more severe dysfunction than those who meet that threshold and do not have the FAS face (SE/AE). Astley Delayed Effects of FASD children exposed to and damaged by prenatal alcohol exposure do deceptively well in their preschool years. The full impact of their alcohol exposure on brain function will not be evident until later in childhood. Over half of the children with full FAS seen in the FASDPN Clinic had Bayley developmental outcomes within the normal range, only to present with severe brain dysfunction later in childhood. How do you know which infants with prenatal alcohol exposure and normal early development will present with severe brain dysfunction later in childhood? Our recent study (Astley, Bledsoe, Davies, 06) confirmed the presence of sentinel physical features (growth deficiency, FAS facial features and/or microcephaly) accurately predict which alcohol-exposed infants will present with severe brain dysfunction later in childhood. Astley FAS DPN, University of Washington, Seattle 5

6 The only safe amount of alcohol for ALL fetuses is none at all. The higher the consumption, the higher the risk of FASD. Because the fetal brain continues to develop throughout pregnancy, there is no safe time for a woman to drink while pregnant. However, if a woman drinks during pregnancy, the risk can be reduced if the woman stops or reduces her drinking. It is never too late to stop. Some fetuses are more vulnerable to the adverse effects of alcohol than others. Genetics plays a role. Fraternal twins often have different outcomes despite identical exposures. It is not uncommon for one to be born with FAS while the other presents with normal development. Identical twins are typically identically impacted. Astley -Digit Code FAS Face (Rank ) ) Short PFL < - SD ) Smooth Philtrum Rank or 5 ) Thin Upper Lip Rank or 5 Palpebral fissure length (PFL) = endocanthionto exocanthion FAS Free Digital Lip-Philtrum Guides For use on your smartphone or computer tablet Contact FAS DPN, University of Washington, Seattle 6

7 FAS Facial Analysis Software Available from: Seattle 0-Year Foster Care FAS Photo Screening 0-Year Foster Care FAS Screening using D Photos 0-Year Photo screening confirmed the Rank FAS face is HIGHLY specific. > 95% of children with Rank FAS face had FAS. out of every 00 children in foster care had FAS. (,500 foster children screened over 0 years with 98% participation rate.) Astley SJ et al Application of the fetal alcohol syndrome facial photographic screening tool in a foster care population. Journal of Pediatrics, 00;(5):7-7. FAS DPN, University of Washington, Seattle 7

8 Face and IQ face Rank Face Rank and Quick Neurological Screen Test The higher the score, the more severe the neurological impairment Face Rank Face Rank and OFC Face Rank Face Rank and Prevalence of Significant Developmental Delay under age years Face Rank Face and VMI face rank Face Rank and Number of Domains of Significant CNS Dysfunction Face Rank Only those with the Rank FAS Face have Disproportionately Smaller Frontal Lobe Volumes Frontal Lobe (adjusted for brain size) Across Groups This is particularly compelling since the morphogenesis of the middle and upper face is heavily influenced by signals emanating from the forebrain to the frontonasal prominence FAS/PFAS SE/AE ND/AE Control Astley SJ, et al. Magnetic resonance imaging outcomes from a comprehensive magnetic resonance study of children with fetal alcohol spectrum disorders. Alcoholism: Clin Exp Res. 009;(0):-9. The more severe the -Digit Code FAS face, the more severe the abnormalities in brain structure, function, even development The more severe the FAS face. Quick Neurological Screening Test, mean (95% CI) Prevalence of Significant Developmental Delay Number of Domains of Significant CNS Dysfunction, mean (95% CI) 95% CI FSIQ or equivalent OFC Percentile, mean (95% CI) 95% CI VMI Standard Score the lower the IQ the smaller the OFC the greater the impairment in visual motor integration the greater the the higher the prevalence of the more domains of neurological impairment developmental delay under age significant dysfunction Does Intervention Work? YES! The two factors that predicted the best outcomes in children with prenatal alcohol exposure are:. Early diagnosis and intervention. A stable, nurturing home environment Astley SJ. Profile of the first,00 patients receiving diagnostic evaluations for fetal alcohol spectrum disorder at the Washington State Fetal Alcohol Syndrome Diagnostic & Prevention Network. Canadian Journal of Clinical Pharmacology, Vol 7 () Winter 00:e-e6:March 6, 00. FAS DPN, University of Washington, Seattle 8

9 Types of Intervention Recommendations 0 children with FASD (0-6 years of age) Jirikowic T, Gelo J, Astley S.Children and youth with fetal alcohol spectrum disorders: Summary of intervention recommendations after clinical diagnosis. Intellectual and Developmental Disabilities 00;8(5):0-. Patient Satisfaction (,600 patients) Would recommend clinic to other families 00 % Received information they were unable to obtain elsewhere 9 % Found explanation of -Digit Code easy to understand. 86 % Were somewhat to very successful in finding recommended interventions 90 % Reported these services met some to all of their needs. 96 % Astley SJ. Twenty years of patient surveys confirm a FASD -Digit-Code interdisciplinary diagnosis afforded substantial access to interventions that met patents' needs. J Popul Ther Clin Pharmacol Vol ():e8- e05; March 6, 0. Can FASD be Prevented? YES! In Washington State from : The prevalence of drinking during pregnancy dropped from 5% % The prevalence of FAS births dropped from 7% % Astley SJ. Fetal alcohol syndrome prevention in Washington State: Evidence of success. Paediatric and Perinatal Epidemiology, 00;8:-5. FAS DPN, University of Washington, Seattle 9

10 AAP Recognizes FASDPN A new report from the American Academy of Pediatrics (AAP) said no amount of alcohol is safe for pregnant women to consume during any trimester. Washington State continues to be a national and international leader in FASD diagnostic, prevention, and intervention practices through a longstanding coordinated effort of diverse programs focused on their collective FASDassociated needs and building a strong FASD research and evidence basis. Selected References. Astley SJ, Bledsoe JM, Davies JK, Thorne JC. Comparison of the FASD -Digit Code and Hoyme et al. 06 FASD diagnostic Guidelines. Adv Pediatr Research : doi:0.75/apr Astley SJ, Bledsoe JM, Davies JK. The essential role of growth deficiency in the diagnosis of FASD. Adv Pediatr Research :9 doi:0.75/apr Astley SJ. Validation of the fetal alcohol spectrum disorder (FASD) -Digit Diagnostic Code. J Popul Ther Clin Pharmacol Vol 0():e6-67;November 5, 0. Astley SJ. Twenty years of patient surveys confirm a FASD -Digit-Code interdisciplinary diagnosis afforded substantial access to interventions that met patents' needs. J Popul Ther Clin Pharmacol Vol ():e8-e05; March 6, Astley SJ. Diagnosing FASD. In: Prenatal Alcohol Use and FASD: Diagnosis, Assessment and New Directions in Research and Multimodal Treatment. Eds Adubato and Cohen, Bentham, Astley SJ. Profile of the first,00 patients receiving diagnostic evaluations for fetal alcohol spectrum disorder at the WA State Fetal Alcohol Syndrome Diagnostic & Prevention Network. Can J Clin Pharmacol.Vol 7() Winter 00:e-e6; March 6, Astley SJ. Canadian palpebral fissure length growth charts reflect a good fit for two school and FASD clinic-based U.S. populations. J Popul Ther Clin Pharmacol Vol 8 ():e-e; April 8, Astley et al., Neuropsychological and behavioral outcomes from a comprehensive magnetic resonance study of children with FASD, Canadian J Clinical Pharmacology, 009;6():e Astley et al., MRI outcomes from a comprehensive magnetic resonance study of children with FASD, ACER 009;(0). 0. Astley SJ. FAS prevention in Washington State: Evidence of success. Paediatric and Perinatal Epidemiology, 00;8:-5.. Astley SJ, Clarren SK. Diagnosing the full spectrum of fetal alcohol exposed individuals: Introducing the -Digit Diagnostic Code. Alcohol and Alcoholism, 000;5 (): Astley SJ. Diagnostic Guide for Fetal Alcohol Spectrum Disorders: The -Digit Diagnostic Code, rd edition, University of Washington Publication Services, Seattle WA, 00.. Astley SJ, Clarren SK. A fetal alcohol syndrome screening tool. ACER, 995:9(6): Astley SJ, Clarren SK. A case definition and photographic screening tool for the facial phenotype of FAS, J Peds. 996;9:-. 5. Astley SJ, Clarren SK. Measuring the facial phenotype of individuals with prenatal alcohol exposure: correlations with brain dysfunction Alcohol & Alcoholism, 00;6(0): Astley SJ, Stachowiak J, Clarren SK, Clausen C. Application of the fetal alcohol syndrome facial photographic screening tool in a foster care population. Journal of Pediatrics, 00;(5): Astley SJ. Fetal alcohol syndrome prevention in Washington State: Evidence of success. Paediatric and Perinatal Epidemiology, 00;8: Jirikowic T, Gelo J, Astley S Children and youth with fetal alcohol spectrum disorders: Summary of intervention recommendations after clinical diagnosis. Intellectual and Developm Disabilities 00;8(5):0-. All literature referenced in this presentation is available at: University of Washington FASDPN Website fasdpn.org Interact with our new FASDPN Tableau Dashboards dpn/htmls/tableau-fasdpn.htm FAS DPN, University of Washington, Seattle 0