Facial dysmorphism across the fetal alcohol spectrum
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1 Facial dysmorphism across the fetal alcohol spectrum Molecular Medicine Unit UCL Institute of Child Health, London, UK
2 New objective techniques to assess facial dysmorphism in FASD FAS/PFAS and those without classic features young infants in 1 st year of life disorders with overlapping facial features RESULTS AND RELEVANCE HERE TECHNICAL ASPECTS ELSEWHERE Suttie et al : Pediatrics, on line Feb 26th 2013
3 FASD Diagnostic Criteria Alcohol Exposure FAS PFAS Heavy Exposure (HE) Prenatal exposure of 1 oz AA/day OR 4 binges of at least 2 oz AA Palpebral fissure width 10 th %tile Thin upper lip (4/5 on Astley scale) 2 2 Face of 3 of 3 Smooth philtrum (4/5 on Astley scale) Growth Height/weight 10 th %tile Brain growth Behaviour/ Cognition Head circumference 10 th %tile Structural brain anomaly Behavioural or cognitive abnormalities 1 of 2 1 of 4
4 3D facial photographs
5 FACIAL DYSMORPHISM ACROSS THE FETAL ALCOHOL SPECTRUM with Sandy Jacobsen & Joseph Jacobsen
6 FACES
7 COMPARISON OF FACE OF CHILD WITH FAS TO AVERAGE OF MATCHED CONTROLS Front view smooth upper lip inner eye folds Profile view short nose flat nasal bridge mid-facial flatness backward rotation of lower jaw FACE SIGNATURE FACE SHAPE NORMALISED AGAINST CONTROLS Red- 2 S.D. deflated Blue- 2 S.D. inflated Greencoincident
8 FACE SIGNATURES: CHIDREN WITH FASD FAS PFAS HE
9 UPPER LIP MODEL
10 IDENTIFYING UPPER LIP SMOOTHNESS 2.0 SD * * Reddeflated Blueinflated Greencoincident ±1.5 SD ±1.0 SD
11 SIGNATURE GRAPH clusters faces with similar shape differences from matched controls
12 SIGNATURE GRAPH: FAS, PFAS & HE
13 SIGNATURE GRAPH: FAS, PFAS & HE
14 SIGNATURE GRAPH: FAS, PFAS & HE HE2 facial differences more control like than FAS/PFAS HE1 facial differences more FAS/PFAS like than control
15 WISC IQ CVLT-C 1 CVLT-C 2 SIGNATURE GRAPH: FAS, PFAS & HE HE2 HC HE1 vs HE2 (t) * p < 0.08 * p <0.05 WISC IQ CVLT-C 1 CVLT-C 2 HE1 FAS PFAS
16 DIFFERENTIAL DIAGNOSES FOR FASD Aarskog Cornelia de Lange (n=50) Dubowitz Fetal hydantoin Fetal valproate Maternal PKU fetal effects Noonan/CFC/Costello (50) Toluene embryopathy Williams (65) fas_guidelines_accessible.pdf
17 SCREENING FOR CDLS FACIAL FEATURES CONTROLS 14 CdLS
18 SCREENING FOR CDLS FACIAL FEATURES CONTROLS 14 CdLS
19 DIFFERENTIAL DIAGNOSES FOR FASD
20 DIFFERENTIAL DIAGNOSES FOR FASD
21 DIFFERENTIAL DIAGNOSES FOR FASD
22 DIFFERENTIAL DIAGNOSES FOR FASD FASD SYND FASD(n=60) 96% 4% SYND(n=165) 2% 98%
23 IN SUMMARY INFANTS monitor growth & identify FASlike facial features as early as 1 month DIFFERENTIAL DIAGNOSIS discriminate FASD from conditions with similar features HE NON-SYNDROMIC visualise & quantify facial differences undetected by eye, and link face shape with cognitive impairment CAMERA ISSUES 3D cameras expensive & rare resource; BUT 3D webcams and smaller/cheaper 3D cameras are imminent
24 Acknowledgements CHILDREN & FAMILIES FOR VOLUNTEERING UCL ICH Mike Suttie CIFASD Tina Chambers Tatiana Foroud Sarah Mattson Ed Riley Jeff Rogers Leah Wetherill PASS NETWORK Amy Elliot Coen Groenewald Hein Odendaal WAYNE STATE Sandy Jacobsen Joseph Jacobsen
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FETAL ALCOHOL SPECTRUM DISORDER: HOW CHILDREN ARE IMPACTED THROUGHOUT THEIR LIVES
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ABSTRACT. Objective Do patients report an FASD diagnostic evaluation affords them access to interventions that meet their needs?
TWENTY YEARS OF PATIENT SURVEYS CONFIRM A FASD 4-DIGIT-CODE INTERDISCIPLINARY DIAGNOSIS AFFORDED SUBSTANTIAL ACCESS TO INTERVENTIONS THAT MET PATIENTS NEEDS Susan J Astley Professor of Epidemiology and