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239: FETAL ALCOHOL SPECTRUM DISORDERS

Kay Tasso, PhD, PT, PCS

CONDITION/DISORDER SYNONYMS

  • Fetal alcohol syndrome (FAS)

  • Partial fetal alcohol syndrome (pFAS)

  • Alcohol-related neurodevelopmental disorder (ARND)

  • Alcohol-related birth defects (ARBDs)

ICD-9-CM CODE

  • 779.4 Drug reactions and intoxications specific to newborn1

ICD-10-CM CODE

  • Q86.0 Fetal alcohol syndrome (dysmorphic)2

PREFERRED PRACTICE PATTERN

  • 5B Impaired Neuromotor Development3

PATIENT PRESENTATION

A 9-month-old infant is referred to physical therapy for fetal alcohol syndrome. The infant was recently placed with a local foster family. The foster mother reports no medical history is available regarding the baby but she has noticed the baby is not developing like the other foster children she has had. Upon examination, the therapist notes the infant is mildly hypotonic overall and is exhibiting gross motor delay as evidenced by an inability to roll, crawl, or sit independently.

KEY FEATURES

Description

  • Includes a range of severity of defects caused by excessive maternal consumption of alcohol during pregnancy4

  • Fetal alcohol syndrome characterized by 4

    • Short stature

    • Microcephaly

    • Developmental delay

    • Atypical facial features

    • Cognitive impairment

Essentials of Diagnosis

  • Partial fetal alcohol syndrome: Characterized by at least two facial characteristics and at least one of the other typical syndrome characteristics4

  • Alcohol-related neurologic disorder (ARND): Less severe form4 that does not involve atypical facial features but does involve at least one of the other typical syndrome characteristics4

  • ARBDs: Includes at least two facial characteristics, at least one major congenital organ defect, and at least 2 minor defects2

FIGURE 239-1

Characteristic facies associated with fetal alcohol syndrome. (From Tintinalli JE, J. Stephan Stapczynski, O. John Ma, et al., eds. Tintinalli’s Emergency Medicine: A Comprehensive Study Guide. 7th ed. http://www.accessmedicine.com. Copyright © The McGraw-Hill Companies, Inc. All rights reserved.)

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General Considerations

  • Prenatal exposure to alcohol is the most common preventable cause of mental retardation.

  • May also have4

    • Cardiac defects.

    • Neural tube defects.

    • Genitourinary defects.

    • Behavioral problems.

      • Stranger anxiety.

      • Inappropriate social interactions.

      • Poor judgment.

Demographics

  • 30% to 40% of offspring of mothers whose daily intake of alcohol exceeds 3 ounces4

  • 0.5 to 2 per 1000 live births4

CLINICAL FINDINGS

SIGNS AND SYMPTOMS4

  • Growth

    • Short stature

    • Developmental delay

    • Failure to thrive

    • Prenatal and postnatal growth deficiency

  • Craniofascial

    • Sort palpebral fissures

    • Atypical facial features

    • Flat philtrum

    • Thin vermillion of upper lip

  • Central nervous system

    • Microcephaly

    • Optic nerve hypoplasia

    • Hypotonis

    • Partial or complete agenesis of the corpus callosum

    • Cognitive impairment

    • Tremors

Functional Implications

  • Difficulty with complex cognitive function4...

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