American Academy of Pediatrics 2014 Educational Webinar Series Monday, July 28, 3:00 3:30 pm ET FETAL ALCOHOL SPECTRUM DISORDERS (FASDS): DETECTION, DISCOVERY, AND DIAGNOSIS PRESENTED BY YASMIN SENTURIAS, MD, FAAP
FASDs Series Overview Myths, Media, and Medical Home July 16, recording available at www.aap.org/fasd Detection, Discovery, and Diagnosis July 28, 3:00 3:30pm ET Roles, Referrals, and Reimbursement August 13, 3:00 3:30pm ET Communication, Care Plans, and Care Coordination August 27, 3:00 3:30pm ET
FASDs: Detection, Discovery & Diagnosis Learning Objectives 1. Identify the signs and symptoms that may indicate prenatal alcohol exposure and potential FASDs 2. Utilize the algorithm on FASDs in practice 3. Describe the utility of various diagnostic tools
Fetal Alcohol Spectrum Disorders A group of conditions that are caused by prenatal alcohol exposure. Effects may include physical, developmental, behavioral, and/or learning disabilities but the most significant effect of prenatal alcohol exposure is on the BRAIN FAS ARBD ND-PAE (ARND) Include terms such as Fetal alcohol syndrome Neurobehavioral disorder associated with prenatal alcohol exposure (ND-PAE, formerly Alcohol Related Neurodevelopmental Disorder) Alcohol related birth defects Partial fetal alcohol syndrome
Fetal Alcohol Syndrome (FAS) The most involved (tip of the iceberg) Facial characteristics: small palpebral fissures (10th percentile or below), smooth philtrum*, thin vermilion border* (thin upper lip) Growth deficiencies: weight/length-at or below the 10 th percentile (any measurement from birth to present time) CNS Abnormality (one of the following): Structural, Neurological or Functional MOST CHALLENGING ASPECT OF FAS For full FAS, (+)/(-) Maternal alcohol use in pregnancy (history is not always available)
Child with Fetal Alcohol Syndrome EFFECTS ARE CAUSED BY ALCOHOL EXPOSURE IN FIRST TRIMESTER FACIAL DYSMORPHIA REFLECT BRAIN ABNORMALITY IN FAS Smooth philtrum Thin upper lip Photo courtesy of University of Louisville FASD Clinic and CDC Southeast FAS RTC, used with permission. Short palpebral fissures (10 th percentile or below)
3 FAS Facial Features 1. Short Palpebral fissure length 2. Smooth philtrum (rank 4 or 5) 3. Thin upper lip (rank 4 or 5) Examples of the FAS face across the races: Native American, Caucasian, African American. Source: FAS Diagnostic & Prevention Network www.fasdpn.org
FASDs: Detection, Discovery & Diagnosis CNS Abnormalities Structural Head circumference at or below 10 th percentile Clinically significant abnormalities on neuroimaging Neurological Seizures Focal deficits Functional (ND-PAE in DSM 5) Neurocognitive deficits Cognitive/developmental deficits or discrepancies Executive functioning deficits Motor functioning delays Problems with self regulation-self soothing, sleep Delayed adaptive skills problems with social skills Problems with self care/daily living skills *Neurobehavioral disorder associated with PAE is in DSM 5
Areas of Brain Affected By Prenatal Alcohol Exposure Frontal Lobes impulses and judgment. The prefrontal cortex controls Executive Functions Corpus callosumpasses information from the left brain (rules, logic) to the right brain (impulse, feelings) and vice versa. Hypothalamus - appetite, emotions, temperature, and pain sensation Cerebellum - coordination and movement Basal Ganglia - spatial memory, switching gears, working toward goals, predicting behavioral outcomes, and the perception of time Hippocampus -memory, learning and emotion Source: Dr. Sarah Mattson, University of San Diego
Alcohol Effects on the Brain Corpus callosum Brain of baby with no exposure to alcohol compared to the brain of baby with heavy exposure to alcohol (photo from Sterling Clarrens, M.D.) A: 14 - y. o. control subject: Normal corpus callosum B. 12 - y.o. with FAS and a thin corpus callosum C. 14 - y.o. with FAS and agenesis of the corpus callosum Source: Mattson, S.N.; Jernigan, T.L.; and Riley, E.P. 1994. MRI and prenatal alcohol exposure: Images provide insight into FAS. Alcohol Health & Research World 18(1): 49-52.
Factors in history/presentation that would make one consider FAS/FASDs Known exposure to alcohol in utero or other drug use Parental concern about FAS or an FASD Sibling with FAS or an FASD History of being in foster/adoptive care/international adoption Characteristic facial and growth abnormalities Characteristic CNS abnormalities: structural (microcephaly or abnormality on imaging) neurological (seizures or abnormal neurological finding/s) or functional. For functional abnormalities, see DSM 5 ND-PAE criteria below (Figure 5.3) ADHD with poor response to medication/therapies
Neurobehavioral Disorder Associated with Prenatal Alcohol Exposure-DSM 5 More than minimal exposure (i.e., >2 drinks per session, 13 + drinks/ month during pregnancy) Impaired neurocognitive functioning Impaired self-regulation Impairment in adaptive functioning [2 or more, one of which must be (1) or (2)]:
What constitutes more than minimal exposure? ALTHOUGH NO AMOUNT CAN BE CONSIDERED SAFE DURING PREGNANCY: Light drinking is defined as 1-13 drinks per month during pregnancy with no more than 2 of these drinks consumed on any 1 drinking occasion. Requires consideration of factors known to affect exposure and/or interact to influence developmental outcomes, including stage of prenatal development, gestational smoking, maternal and fetal genetics, and maternal physical status (i.e., age, health, and certain obstetric problems). (American Psychiatric Association, 2013, p. 799).
Neurobehavioral Disorder Associated with Prenatal Alcohol Exposure-DSM 5 Impaired NEUROCOGNITIVE FUNCTIONING as manifested by one or more of the following: Impairment in global intellectual performance (i.e., IQ of 70 or below, or a standard score of 70 or below on a developmental assessment) (IQ/DQ) Impairment in executive functioning (e.g., poor planning and organization; inflexibility; difficulty with behavioral inhibition). Learning- Impairment in learning (e.g., lower academic achievement than expected for intellectual level; specific learning disability). Memory impairment (e.g., problems remembering information learned recently; repeatedly making the same mistakes; difficulty remembering lengthy verbal instructions). Impairment in visual-spatial reasoning (e.g., disorganized or poorly planned drawings or constructions; problems differentiating left from right).
Neurobehavioral Disorder Associated with Prenatal Alcohol Exposure-DSM 5 Impaired SELF-REGULATION as manifested by one or more of the following: Impairment in mood or behavioral regulation (e.g., mood lability; negative affect or irritability; frequent behavioral outbursts, problems with sleep). Attention deficit (e.g., difficulty shifting attention; difficulty sustaining mental effort). Impairment in impulse control (e.g., difficulty waiting turn; difficulty complying with rules).
Neurobehavioral Disorder Associated with Prenatal Alcohol Exposure-DSM 5 Impairment in ADAPTIVE FUNCTIONING as manifested by TWO or more of the following, one of which must be (1) or (2): Communication deficit (e.g., delayed acquisition of language; difficulty understanding spoken language). Impairment in social communication and interaction (e.g., overly friendly with strangers; difficulty reading social cues; difficulty understanding social consequences). Impairment in daily living skills (e.g., delayed toileting, feeding, or bathing; difficulty managing daily schedule). Impairment in motor skills (e.g., poor fine motor development; delayed attainment of gross motor milestones or ongoing deficits in gross motor function; deficits in coordination and balance).
Neonatal Period Characteristic facial dysmorphia may not be as obvious Neurocognitive-developmental delay Self Regulation Difficulty with self soothing-easily OVERSTIMULATED (affects sleep) Poor habituation>irritability- AVOID OVERSTIMULATION Adaptive Poor suck, poor motor skills WILL NEED THERAPY **History of exposure most accessible at well baby checks and should be documented in the record
Toddler to Pre-K NEUROCOGNITIVE Difficulty following/understanding instructions SELF REGULATION ADHD picture Prolonged Tantrums Sleep problems Poor adaptive skills Delays in gross/fine motor and adaptive skill
Kindergarten to 6 th Grade Neurocognitive Delayed overall development Learning (may talk well and read well but may not comprehend; may have math and visual spatial problems) and memory problems Self Regulation Inattention Tantrums with low frustration tolerance Adaptive Naive, easily influenced by others, difficulty reading social cues Seems to act below their age
Middle School/Junior High and beyond Neurocognitive- Cognitive problems, poor organizational skills/executive functions Academic difficulties- math and reading comprehension Self regulation Behavioral outbursts Adaptive Naïve, easily influenced by othersneeds parent to help make good choices Secondary disabilities
FASD Toolkit www.aap.org/fasd Serves as the framework for the medical home management of a child with an FASD Provides tools and resources for primary care providers to help them meet needs of affected children and families The toolkit helps raise awareness, promotes surveillance and screening and ensures appropriate interventions
Thinking about making the diagnosis of FAS or ND-PAE?
Conclusions Fetal alcohol spectrum disorders (FASDs) are a group of conditions caused by prenatal alcohol exposure. At the tip of the iceberg is Fetal Alcohol Syndrome (FAS), which manifests with facial, growth, and central nervous system abnormalities. Neurobehavioral Disorder Associated with Prenatal Alcohol Exposure is characterized by prenatal alcohol exposure, plus problems in neurocognition, self-regulation and adaptive skills. The AAP FASD Algorithm for Diagnosis and Management of FASDs is a useful tool to guide clinicians in the process of identifying, diagnosing and managing FASDs and this is available in the free, online AAP FASD toolkit.
FASDs: Detection, Discovery & Diagnosis Questions and Answers
Measuring the Facial Features The features can be measured by hand or more accurately from a digital photo using the FAS Facial Photographic Analysis Software. The ruler, lip-philtrum guides and software are available at www.fasdpn.org
Copyright Susan Astley, 2011
ICD-9 Codes 760.71 Fetal Alcohol Syndrome (Exposure to alcohol in utero) 761.9 Maternal complication of pregnancy affecting fetus or newborn, unspecified (including mental health) 349.89 Static encephalopathy 349.9 CNS disorder, NOS 743.10 Microcephaly 796.4 Dysmorphic Features 783.42 Delayed milestones 294.9 Cognitive disorder, NOS 317 Mild intellectual disabilities (IQ 50-70)