Fetal alcohol spectrum disorder–understanding the clinical features, approach to evaluation, and differential diagnosis Flashcards
Is alcohol a teratogen?
Obvious answer is yes
In general terms, what spectrum of effects does alcohol cause as described by FASD or fetal alcohol spectrum disorder?
It describes the effects on physical, behavioral and neurodevelopmental features of the infant who been exposed.
What are some of the facial dysmorphic clinical features noted on a child with FASD?
They include short palpebral fissures, smooth philtrum, and thin vermilion border.
What are other possible facial features in FASD that are not part of the diagnostic criteria?
They include hypoplastic midface, epicanthal folds, flat nasal bridge, long philtrum, decreased distance between pupils, anteverted nares, decreased intercanthal distance, and ptosis.
What are the 6 common organ systems affected by FAS D?
- Cardiovascular
- Musculoskeletal
- Renal
- Ophthalmologic
- Auditory
- CNS or neurologic
What is the common cardiac defect and subtypes found in F ASD?
Congenital heart disease is more common in children with FAS D and the common defects include ASD, VSD, and conotruncal defects such as tetralogy of Fallot
What are some of the common musculoskeletal findings in the FAS D?
Most commonly camptodactyly or bent finger that cannot be straightened, contractures of large joints, and pectus excavatum, other features may include scoliosis, hypoplastic nails, Klippel-Feil syndrome
What are some of the renal anomalies commonly found in FAS D?
Horseshoe kidney
Aplastic kidney
Dysplastic kidney
Hypoplastic kidney
Hydronephrosis
Ureteral duplications
What are the ophthalmologic anomalies found in FASD
Ptosis most common
Strabismus
Optic nerve hypoplasia
What are the auditory anomalies found in FASD
may include conductive or sensorineural hearing loss
What are the central nervous system features commonly found in FASD?
They include microcephaly
Abnormalities in the shape or size of brain structures including cerebellum, corpus callosum, or basal ganglia
What are some of the CNS manifestations of FASD in infancy or during infancy?
Delayed development
Irritability
Issues regulating arousal, sleep, attention
Autonomic Instability
Jitteriness
What are some of the CNS manifestations of FASD in childhood?
Behavioral problems
Cognitive impairment–lower IQ
Learning disabilities
Hyperactivity
Inattention
Emotional reactivity
Impairments in vision or listening, hypotonia and seizures
Memory and reasoning
What are some of the CNS manifestations of FASD in adolescence?
Social skills issues
Deficits in adaptive or executive functioning
What is the generalized approach in diagnosing a child with FAS D?
A comprehensive and multidisciplinary approach is necessary including pediatric neurologist, geneticist and/or developmental behavioral pediatrician.
Are there universally excepted criteria for diagnosing F ASD?
There are no universally excepted diagnostic criteria
What are the most common characteristics to diagnose FAS D
Prenatal exposure to alcohol
Characteristics of facial dysmorphia: Short palpebral fissures, thin vermilion border, or smooth philtrum
CNS involvement: Structural, neurologic, or functional
Growth retardation
What other genetic conditions are in the differential diagnosis and can resemble facial features of FASD?
Williams syndrome, Noonan syndrome, Cornelia de Lange syndrome, DiGeorge syndrome for the most common some others include fetal ident twin syndrome, Tulane embryopathy, fetal valproate syndrome, in the fetal effects of maternal PKU.
What are some of the differential etiologies for growth retardation and microcephaly that may look like F ASD?
Genetic or chromosomal abnormalities, metabolic disorders, fetal infections, or other teratogens.
Described differential diagnosis for behavioral problems included in the differential for if FASD?
ADHD, autism spectrum disorder, global developmental delay, mood disorders, schizophrenia, conduct disorder, ODD, PTSD, sleep disorders and substance abuse.
What are some of the environmental factors that can play a role in neuro behavioral problems in children?
They include child abuse, or neglect, poverty, early adversity or trauma, early loss, poor prenatal environment, caregiver substance abuse
