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Fetal Alcohol Spectrum Disorders
Dina E. Hill, Ph.D.
Andrea Sherwood, PhD, ABPP-CN
UNM Center for Neuropsychological Services,
Department of Psychiatry
Disclosures
• Dr. Hill has a contract with IHS for neuropsychologicalassessment of children through her private practice.
• Dr. Sherwood has no financial relationships or conflicts ofinterest related to this presentation. She is not involved inany clinical drug trials.
Overview of FASD Series
• Session 1: Overview and Introduction
• Session 2: Screening and Diagnosis
• Session 3: Assessment of FASD
• Session 4: Therapeutic Interventions
• Session 5: FASD Over the Lifespan
• Session 6: Special Topics
Session 2: Screening and Diagnosis
Goals/Objectives
• Identify “Red Flags” for Screening of FASD
• Describe Diagnostic Criteria for FASD
• Recognize Two Co-Occurring Diagnoses/Disorders
Fetal Alcohol Spectrum Disorders (FASD)
FASDs are a group of conditions that can occur in a person whose mother drank alcohol during pregnancy. These conditions can affect each person in different ways, and can range from mild to severe. They can include physical problems and problems with behavior and learning. (CDC)
Screening for FASD
Maternal FactorsReport of maternal drinking during pregnancy
Child FactorsSibling with FAS
Unusual physical appearance/anomalies
Behavioral/developmental problems
Awareness of Populations with higher prevalenceChild Welfare Services
Primary Care Screening
• With a positive screening: refer for diagnostic evaluation
• Multidisciplinary approach (includes genetic, medical, morphological,behavioral, and neuropsychological assessment)
• Diagnosis of Exclusion
Institute of Medicine – 1996
Fetal Alcohol Spectrum Disorders
• FAS – Fetal Alcohol Syndrome
• pFAS –Partial Fetal Alcohol Syndrome
• ARBD – Alcohol Related Birth Defects
• ARND – Alcohol Related Neuro-developmental Disorder
Diagnostic Criteria for FAS
A. Evidence of a characteristic pattern of facial anomalies
B. Evidence of growth retardation
C. Evidence of CNS abnormalities
Diagnosis can be made with or without confirmed maternal alcohol exposure
Confirming Maternal Alcohol Exposure
• IOM Criteria – Mother has pattern of excessive alcohol intake
• Interview with Mother of Child
• Interview Other Informants
• Medical Tests
Characteristic Facial Anomalies
Short palpebral fissures (less than or equal to the 10th
percentile)
Thin vermilion border of the upper lip (score 4 or 5 on the lip/philtrum guide)
Smooth philtrum (score 4 or 5 on the lip/philtrum guide)
GROWTH PARAMETERS
• Restricted growth at birth or postnatallyincluding:
• Height – less than 10th percentile on normal growth curves
• Weight – less than 10th percentile on normal growthcurves
Evidence of CNS Involvement
• Decreased cranial size at birth
• Structural brain abnormalities
• Recurrent, non-febrile seizures
Diagnostic Criteria for pFAS
• Evidence of 2 of 3 characteristic facial abnormalities
AND one or more of:
1) Evidence of growth retardation OR
2) Evidence of CNS abnormalities OR
3) Evidence of behavioral/cognitive abnormalities
• pFAS can be diagnosed with or without confirmedmaternal alcohol exposure
Diagnostic Criteria for ARBD
•Confirmed maternal alcohol consumption
PLUS
•At least one congenital anomaly
At least one of the following associated congenitalanomalies, including malformations and dysplasias:
System Malformation DysplasiaCardiac ASD Aberrant great vessels
Cardiac VSD Conotruncal heart defects
Skeletal Hypoplastic nails Clinodactyly of 5th fingers
Skeletal Short 5th digits Pectuscarinatum/excavatum
Skeletal Radioulnar synostosis Vertebral segmentationdefects
Skeletal Lg joint contractures Scoliosis
Skeletal Camptodactyly “Hockey stick” palmarcreases
Renal Aplastic/hypoplastic/ “Horseshoe” kidneys/Dysplastic kidneys Ureteral duplications
Eyes Strabismus Refractive errorsEyes Retinal vascular Optic nerve hypoplasia
anomaliesEars “Railroad track” ears Conductive/
neurosensory hearingloss
At least one of the following associated congenitalanomalies, including malformations and dysplasias:
System Malformation DysplasiaCardiac ASD Aberrant great vessels
Cardiac VSD Conotruncal heart defects
Skeletal Hypoplastic nails Clinodactyly of 5th fingersSkeletal Short 5th digits Pectus carinatum/excavatumSkeletal Radioulnar synostosis Vertebral segmentation defectsSkeletal Lg joint contractures ScoliosisSkeletal Camptodactyly “Hockey stick” palmar creases
Renal Aplastic/hypoplastic/Dysplastic kidneys
“Horseshoe” kidneys/Ureteral duplications
Eyes Strabismus Refractive errorsEyes Retinal vascular anomalies Optic nerve hypoplasia
Ears “Railroad track” ears Conductive/ neurosensory hearing loss
Diagnostic Criteria for ARND
•Confirmed maternal alcohol consumption
PLUS
•Evidence of CNS neurodevelopmentalabnormalities
AND/OR
• Complex pattern of behavioral and/orcognitive deficits
Complex Pattern of Cognitive and/or Behavioral Deficits
• Language Deficits
• Learning and Memory
•Attention
•Executive Functions
•Self-Regulation
•Adaptive Functioning
•Sensory Processing
•Social Cognition/Functioning
Diagnostic Code
• Other Specified Neurodevelopmental Disorder due toprenatal alcohol exposure• DSM-5: 315.8
• ICD-10: F88
• Fetal Alcohol Syndrome (dysmorphic)• ICD-10: Q86.0
• Neurobehavioral Disorder Associated with PrenatalAlcohol Exposure (DSM 5)
Differential Diagnosis
• Facial Features• Smooth Philtrum: Opitz syndrome, Cornelia de Lange syndrome,
Toluene embryopathy, Floating-Harbor syndrome
• Thin Vermillion Border: Miller-Dieker syndrome, Cornelia de Lange syndrome, fetal valproic syndrome
• Short Palpebral Fissures: Williams syndrome, Trisomy 18 syndrome, PKU fetal effects, Opitz syndrome
• Growth Retardation
• CNS involvement