Fetal Alcohol Spectrum Disorders

Dina E. Hill, Ph.D.

(dhill@salud.unm.edu)

Andrea Sherwood, PhD, ABPP-CN

(asherwood@salud.unm.edu)

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)

Palpebral Fissure

Philtrum/LipGuide

Microcephaly

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

Hockey Stick Palmar Crease

Railroad Track Ears

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

Common Comorbid Diagnoses

•~40% ADHD

•~15-20% Intellectual Disability

•~25% Learning Disability

•~30% Sensory Impairment

•~4% Cerebral Palsy

•~30% Speech & Language Disorders