Fetal Alcohol Spectrum Disorders

Description

Other Names

Fetal alcohol spectrum disorders (FASDs) include:
  • Fetal alcohol syndrome (FAS)
  • Partial fetal alcohol syndrome (PFAS)
  • Alcohol-related neurodevelopmental disorder (ARND)
  • Alcohol-related birth defects (ARBD)

Diagnosis Coding

ICD-10

Q86.0, fetal alcohol syndrome (dysmorphic)

P04.3, newborn affected by maternal use of alcohol

No specific ICD-10 codes exist currently for PFAS, ARND, or ARBD.

Description

Fetal alcohol spectrum disorders (FASDs) refer to 4 groupings of fetal alcohol-associated birth defects characterized by varying degrees of growth deficiency, specific dysmorphic features, and central nervous system dysfunction and malformation:
  • Fetal alcohol syndrome (FAS) involves a recognizable pattern of dysmorphic features, growth deficiency, structural brain malformations, and neurobehavioral disabilities.
  • Partial fetal alcohol syndrome (PFAS) may not involve the obvious growth deficiency or facial abnormalities and frequently goes undetected.
  • Alcohol-related neurodevelopmental disorder (ARND) involves behavioral and/or cognitive deficits, but normal growth and structural development.
  • Alcohol-related birth defects (ARBD) involves the facial dysmorphology and other structural anomalies of FAS, but no growth or development issues.
Developing Embryo
Photo Science Library
In a developing embryo, alcohol impairs cephalic neural crest cell migration and induces excess cell death in the forebrain, which then results in facial malformations recognized in FASDs. [Rovasio: 1995] Impaired central nervous system development is thought to cause most of an affected child's physical and neurodevelopmental impairments. [Ervalahti: 2007] With early and severe prenatal exposure to alcohol, many systems may be involved, such as eyes, kidneys, heart, and limbs.
FASDs are diagnoses of exclusion and usually require a multidisciplinary evaluation to ensure accurate diagnosis. Confirming maternal alcohol use is one of the biggest challenges and is not required by some criteria. Early identification, referral, and intervention are especially important for improving long-range outcomes. Fetal alcohol exposure is among the most preventable causes of common neurodevelopmental disabilities. At this time, scientific consensus is that NO amount of alcohol during pregnancy is safe. [Ramsay: 2010]

Prevalence

May, et al. estimated that FASDs affect 2-5% of live births in the US and that FAS affects 2-7/1000. [May: 2009] The Centers for Disease Control and Prevention (CDC) estimates 0.2-1.5 cases of FAS per 1000 live births and that at least 3 times as many are affected by FASDs. [National: 2017] FASDs occur in all socioeconomic and cultural groups.

Genetics

Though FASDs are considered an environmental condition, epigenetic research suggests that preconceptional alcohol use by either parent, as well as fetal alcohol exposure, may alter both germ cells and fetal development in ways that may genetically influence future generations. Also, tendencies to misuse and abuse alcohol and substances can be heritable. 

Prognosis

The impact of alcohol on the fetus depends on the timing (e.g., first trimester vs. later trimester), pattern (e.g., daily vs. binge), and magnitude (e.g., chronic vs. occasional) of use. [Chudley: 2005] Facial dysmorphology and internal organ malformation result from significant first trimester fetal alcohol exposure and can occur before pregnancy is recognized. If alcohol consumption starts after the first trimester, facial dysmorphology is typically absent, but neuropsychological deficits are present. As with all teratogens, exposure does not cause impairment in all individuals, nor does the impairment from exposure affect individuals in the same way. Concurrent exposure to other drugs can potentiate the adverse effects of alcohol teratogenicity. 

The unremarkable physical appearance of some affected children who have an intelligence quotient (IQ) that exceeds 70 and do not meet full criteria for FAS often belies their significant cognitive and behavioral challenges. A study of these children, who often are not linked to services, showed higher risk for delinquency, alcohol, and drug abuse. [Streissguth: 2004] Significant numbers of children in the foster and adoptive care systems may have FASDs. 

Early identification, individually tailored interventions, and prevention of secondary disabilities hold the greatest potential for optimizing outcomes and minimizing common behavioral manifestations and the associated shame and anger that often accompanies them. [Streissguth: 1997] Early action remains challenging, especially when adoptive parents may not recognize neurodevelopmental impairments that warrant intervention and biological parents may be suffering from alcohol dependency, social stigmatization, economic marginalization, mental health issues, or an FASD of their own.

Roles Of The Medical Home

Early identification of children with FASDs, initiation and coordination of services, and prevention are key roles of the medical home. The majority of children with FASDs lack characteristic physical findings of FAS, yet have significant functional impairment. A high index of suspicion is the most valuable tool for identification in children with:
  • Learning difficulties
  • Developmental problems
  • Growth restrictions
  • Behavioral concerns
  • School failure
  • Involvement in foster care or adoption process
Risk factors for maternal alcohol use during pregnancy include limited maternal education, little access to financial and housing resources, inadequate nutrition, other substance use, a personal history of abuse or abandonment, a history of losing other children to foster care, and paternal alcohol use during pregnancy. [Wattendorf: 2005] [Bertrand: 2005]

The main goal of management is to minimize the impact of FASDs on development, function, and the family through behavioral, educational, and therapeutic strategies. Children with FASDs also need routine preventive care, treatment of acute illnesses, and management of co-occurring medical and psychiatric issues that is informed by knowledge of their diagnosis. FASDs can affect adherence and ability to follow through on recommendations.

Collaborating with educational providers to improve behavior and the individual’s capacity in school is especially important. Connecting caregivers with local support groups, as well as online and other resources, can empower them to nurture successfully and advocate effectively. Universal prevention that addresses attitudes about the consumption of alcohol and pregnancy is key to reducing the incidence of FASDs.

Practice Guidelines

The American Academy of Pediatrics has recently updated clinical guidelines for the diagnosis of FASDs. Additional guidelines have been developed by the Institute of Medicine, University of Washington, Canada, and the National Center for Birth Defects and Developmental Disabilities and are also helpful when considering the diagnosis.

Hoyme HE, May PA, Kalberg WO, Kodituwakku P, Gossage JP, Trujillo PM, Buckley DG, Miller JH, Aragon AS, Khaole N, Viljoen DL, Jones KL, Robinson LK.
A practical clinical approach to diagnosis of fetal alcohol spectrum disorders: clarification of the 1996 Institute of Medicine criteria.
Pediatrics. 2005;115(1):39-47. PubMed abstract / Full Text

Bertrand J, Floyd LL, Weber MK.
Guidelines for identifying and referring persons with fetal alcohol syndrome.
MMWR Recomm Rep. 2005;54(RR-11):1-14. PubMed abstract / Full Text

Chudley AE, Conry J, Cook JL, Loock C, Rosales T, LeBlanc N.
Fetal alcohol spectrum disorder: Canadian guidelines for diagnosis.
CMAJ. 2005;172(5 Suppl):S1-S21. PubMed abstract / Full Text

Helpful Articles

Barry KL, et al.
Fetal Alcohol Syndrome: Guidelines for Referral and Diagnosis.
National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Department of Health and Human Services. 2004. / http://www.cdc.gov/ncbddd/fasd/documents/FAS_guidelines_accessible.pdf
Detailed information about diagnostic criteria, differential diagnoses, referral considerations, services, and prevention.

Bertrand J.
Interventions for children with fetal alcohol spectrum disorders (FASDs): overview of findings for five innovative research projects.
Res Dev Disabil. 2009;30(5):986-1006. PubMed abstract
An overview of a general intervention model and the findings of 5 intervention studies conducted within this framework. Results revealed a significant treatment effect on a parent report measure of executive functioning.

Riley EP, Infante MA, Warren KR.
Fetal alcohol spectrum disorders: an overview.
Neuropsychol Rev. 2011;21(2):73-80. PubMed abstract / Full Text
Discusses the evolving considerations for diagnosis of FASDs and includes a comparison of the various diagnostic schemas.

Peadon E, Elliott EJ.
Distinguishing between attention-deficit hyperactivity and fetal alcohol spectrum disorders in children: clinical guidelines.
Neuropsychiatr Dis Treat. 2010;6:509-15. PubMed abstract / Full Text
Examines the relationship between ADHD and FASD and discusses treatments.

Williams JF, Smith VC.
Fetal Alcohol Spectrum Disorders.
Pediatrics. 2015;136(5):e1395-406. PubMed abstract / Full Text
Focuses on the role of the medical home in prevention, intervention, and treatment of FASDs.

Hagan JF Jr, Balachova T, Bertrand J, Chasnoff I, Dang E, Fernandez-Baca D, Kable J, Kosofsky B, Senturias YN, Singh N, Sloane M, Weitzman C, Zubler J.
Neurobehavioral Disorder Associated With Prenatal Alcohol Exposure.
Pediatrics. 2016;138(4). PubMed abstract

Clinical Assessment

Overview

A review of the medical and perinatal histories and accurate assessment of facial features, cognition and learning skills, and the child’s strengths and impairments are key. Evaluation typically involves a multidisciplinary team. An accurate history of maternal alcohol use can inform expectations of its impact:

Fetus Vulnerability during Different Times in Pregnancy to Alcohol Exposure
Alcohol Exposure and Phases of Embryo/Fetal Development

Screening

Of Family Members

No screening instruments are available for siblings of children with FASDs, though diagnostic evaluation of siblings, and perhaps birth mothers, may be appropriate.

Mothers can be screened for concerning alcohol use with the CAGE Questionnaire (PDF Document 73 KB) or T-ACE Questionnaire (PDF Document 64 KB) and referred for support. This screening is ideally performed before a woman becomes pregnant.

For Complications

There are no guidelines for screening comorbid conditions in children with FASDs. Consider screening for commonly co-occurring conditions on a case-by-case basis using these free tools:

Presentations

Facial Characteristics of Fetal Alcohol Syndrome
Teresa Kellerman/Wikimedia
Characteristic facial features (photo, left), growth problems, and behavior and learning problems are characteristic of FASDs. Facial dysmorphology may become more readily apparent in early childhood and include a thin upper lip, smooth philtrum, and small palpebral fissures. Photos of FAS facial phenotype across race can be found at Facial Features Associated with Fetal Alcohol Syndrome (University of Washington). Occasionally, severe multiple congenital anomaly syndromes, ranging from cyclopia to congenital heart defects, with other malformations and minor anomalies, may occur. A number of other features that are not diagnostic, but consistent with a diagnosis of an FASD, can be found below in the Examination section of this module. A child with an FASD may also demonstrate a characteristic neurobehavioral profile (e.g., cognitive and functional deficits, described below) without having dysmorphic features.

Diagnostic Criteria

While current diagnostic systems share many features, consensus on diagnostic criteria remains elusive. The 4 diagnostic systems, below, agree for the most part on the required criteria for diagnosis of FAS, but have different requirements for the milder and much more common FASDs. 

The Institute of Medicine (IOM) 1996 criteria, revised and clarified [Hoyme: 2005]
These criteria are more inclusive than others, allowing consideration of a diagnosis of FAS and PFAS when children display a characteristic phenotype, but prenatal alcohol exposure cannot be confirmed. The IOM criteria introduced and classified ARND and ARBD and clarified assignment of diagnosis in a clinical setting. This diagnostic system separates affected children according to confirmed alcohol exposure, presence of characteristic dysmorphic features, growth restriction, and neurocognitive problems.

The University of Washington system [Center: 2014]
This diagnostic system is more exclusive, requiring the complete phenotype for FAS. It introduced the lip philtrum pictorial guide (Facial Features Associated with Fetal Alcohol Syndrome (University of Washington)) that is used by all of the systems. The coding scheme uses a Likert scale rating of 1 (no involvement) to 4 (maximal involvement) in 4 domains: 1) facial features, 2) growth restriction, 3) central nervous system damage, and 4) alcohol exposure. The findings in each domain are numerically organized into a “4-digit diagnostic code” with 256 possible combinations arranged in 22 categories. FAS Diagnostic and Prevention Network provides more details.

Fetal alcohol syndrome: guidelines for referral and diagnosis [Barry: 2004]
This effort focuses on unifying the various diagnostic criteria for FAS, but defers classification of less severe presentations.

Fetal alcohol spectrum disorder: Canadian guidelines for diagnosis [Chudley: 2005]
This system proposes evaluating children according to the “4-digit diagnostic code” used by the University of Washington system and describing the children according to the Institute of Medicine categories, thus harmonizing the 2 diagnostic systems commonly used in the United States. (Fetal Alcohol Spectrum Disorder: Canadian Guidelines for Diagnosis)

Clinical Classification

General categories are summarized as follows:
  • Fetal alcohol syndrome (FAS): Typical facial features (shortened palpebral fissures, indistinct philtrum, thin upper lip), prenatal or postnatal retardation of height or weight (<10 percentile), plus structural brain defects or microcephaly. Diagnosis is further differentiated by whether prenatal alcohol exposure is confirmed.
  • Partial fetal alcohol syndrome (PFAS): Fewer physical findings associated with full FAS, plus otherwise unexplained behavioral and/or cognitive abnormalities. Diagnosis is further differentiated by whether prenatal alcohol exposure is confirmed.
  • Alcohol-related birth defects (ARBD): Confirmed prenatal alcohol exposure, 2 or more of the characteristic facial findings of FAS, plus at least 1 other major or 2 minor structural defects, as listed:

    Structural Defects Considered "Major"
    Atrial septal defect Ureteral duplication
    Aberrant great vessels Strabismus
    Ventricular septal defect Ptosis
    Conotruncal heart defects Retinal vascular anomalies
    Radoulnar synostosis Optic nerve hypoplasia
    Vertebral segmentation defects Conductive hearing loss
    Large joint contractures Sensorineural hearing loss
    Scoliosis “Horshoe” kidney
    Aplastic hypoplastic Dysplastic kidneys

    Structural Defects Considered "Minor"
    Hypoplastic nails Camptodactyly
    Short fifth digit “Hockey stick” palmar crease
    Clinodactly of fifth digit Refractive errors
    Pectus carinatum or excavatum “Railroad track” ears

  • Alcohol-related neurodevelopmental disorder (ARND): Confirmed prenatal alcohol exposure, structural brain abnormalities or microcephaly, plus otherwise unexplained behavioral and cognitive abnormalities that result in significant impairment.

Neurobehavioral Disorder Associated with Prenatal Alcohol Exposure (ND-PAE) is a “Condition for Further Study" in the DSM-5 Handbook of Differential Diagnosis (APA).The intent of this new designation is to better capture the behavioral and mental health effects of in utero exposure to alcohol of individuals with and without physical dysmorphia, in contrast to ARND, which applies only to individuals with neurobehavioral effects in the absence of physical dysmorphia effects. [Hagan: 2016]

Differential Diagnosis

Consider the possibility of other genetic conditions (e.g., Williams syndrome, Cornelia de Lange syndrome, and velocardiofacial syndrome) if a child has the characteristic facial features of FAS plus findings that are not characteristic of an FASD. Differential Diagnoses of Syndromes Similar to FAS (PDF Document 43 KB), from [Barry: 2004], provides a table of overlapping and differentiating physical features. Also, please see the Portal's page about Distinguishing Fetal Alcohol Spectrum Disorders from Autism Spectrum Disorder.

Comorbid Conditions

Attention deficit hyperactivity disorder (ADHD): Children diagnosed with an FASD may be up to 17 times more likely to meet criteria for ADHD. [Burd: 2003] The Portal's Attention Deficit Hyperactivity Disorder (ADHD) provides assessment and management information.

Mental illness: One study showed that of the group of adults with known maternal alcohol exposure: [Famy: 1998]
  • 92% met criteria for at least 1 Axis 1 diagnosis
  • 44% met criteria for major depressive disorder (The Portal's Depression provides assessment and management information.)
  • 20% met criteria for bipolar 1 disorder
  • 40% met criteria for psychotic disorders (brief psychotic disorder was included)
Substance abuse: One study found that 60% of adults with FASDs met criteria for alcohol or drug dependence. [Knight: 1999] (The Portal's Substance Use Disorders provides assessment and management information.)

Congenital cardiac and renal malformations are more common in children with FASDs. Specific cardiac, renal, ophthalmic, otic, skeletal, dermatologic, and sensory abnormalities are among the findings included in criteria for ARBD and ARND. [Hoyme: 2005]

Pearls & Alerts

International adoptees and children in foster care

Clinicians should consider FASDs when they care for children who are international adoptees or in foster care, especially when the child exhibits poor growth. [Miller: 2009]

Brain dysfunction

The degree of facial dysmorphology is associated with the degree of brain dysfunction. [Ervalahti: 2007]

Congenital heart disorders

The congenital heart conditions found in children with FASDs, such as conotruncal defects and ventricular septal defects, are also common in the general population. If the individual has a rare congenital heart disorder, consider conditions other than FASDs.

Early identification

Early identification of children with FASDs allows for early developmental intervention and other therapeutic services. It also can lead to substance abuse intervention with the child’s mother, possibly prior to a subsequent pregnancy. The diagnosis of FAS, and especially other FASD diagnoses, is more easily made after the newborn period when the behavioral and/or facial features become more evident and, in the case of FAS, before adolescence when the facial features may become less obvious.

History and diagnosis

While a history of drinking alcohol during pregnancy is useful, it is not necessary to make the diagnosis of FAS or PFAS. Maternal alcohol intake during pregnancy is required to make the diagnosis of ARND or ARBD. FASDs may occur in conjunction with other diagnoses.

History & Examination

Evaluation must include 3 major domains: facial characteristics, growth restriction, and neurodevelopmental disability. Evaluation for co-occurring conditions should be guided by clinical judgment and the presence of worrisome signs or symptoms (e.g., cyanosis or edema) and may include:
  • Renal: aplastic/hypoplastic/dysplastic kidneys, “horseshoe” kidneys/ureteral duplications
  • Eyes: strabismus, ptosis, retinal vascular anomalies, optic nerve hypoplasia, refractive errors
  • Ears: conductive hearing loss, neurosensory hearing loss, “railroad track” ears
  • Skeletal: radioulnar synostosis, vertebral segmentation defects, large joint contractures, scoliosis, pectus carinatum/excavatum, short fifth digits, clinodactyly of fifth fingers, camptodactyly.
  • Other minor anomalies: hypoplastic nails, “hockey stick” palmar creases
  • Unusual physiologic responses: sleep issues, hyper-responsiveness to sensory stimuli, sensory aversions

Family History

Siblings of affected children have a high risk of also having FAS. Diagnosis of FAS in a family suggests that the presenting patient may need careful assessment. Asking and identifying substance use in the extended family may increase the concern for use in the patient or the patient’s parents.

Pregnancy Or Perinatal History

History of pregnancy, labor, delivery, and neonatal course may offer insights into co-occurring conditions that could contribute to the etiology.

Knowing the general drinking habits prior to pregnancy can assist with obtaining accurate reports of drinking before pregnancy was recognized. The “Timeline Followback Method” may elicit the most accurate maternal drinking history. This method uses visual prompts, such as calendars and key life events like holidays, to trigger accurate recall of alcohol use. (Timeline Followback Sample Calendar and Instructions (Nova Southeastern University))

Confirming a maternal drinking history is notoriously difficult and may be impossible for children who are adopted or in foster care. Because use of alcohol during pregnancy is usually a sensitive topic, questions should be asked non-judgmentally. Working to create mutual trust and respect, practicing empathy, and using accepting body language can help individuals feel safe in revealing risky behavior, painful family behavioral histories, and stigmatizing or sensitive information. Open-ended questions, such as “Please help me understand more about your family in relation to alcohol and drugs,” are often helpful.

Current & Past Medical History

Ask about sleep issues, hyper-responsiveness to sensory stimuli, or sensory aversions.

Developmental & Educational Progress

Ask about the use of verbal and non-verbal communication (e.g., sign language), the age of onset, and any regression in communication skills. Ask about receptive language skills as well. Individuals with an FASD have difficulties with naming, grammar, semantics, pragmatics, and especially word comprehension. They have impaired phonological working memory. Language deficits can also stem from issues with executive functioning.

Maturational Progress

Endocrine disorders are not a hallmark of FASDs; however, as in children with other brain structural and functional abnormalities, problems with precocious or delayed puberty onset can occur.

Social & Family Functioning

Inquire about social and emotional functioning of family members and support of extended family. Asking about a typical day at home can provide insight into the daily hassles and chronic strain.

Physical Exam

Many children with FASDs demonstrate one or more characteristic facial feature. A “gestalt” diagnosis (not advised) must be confirmed with a detailed physical and neuropsychological evaluation. Physical assessment of children with prenatal alcohol exposure can be learned by primary care clinicians. Jones, et al. found that after a 2-day interactive training, pediatricians were able to identify accurately the growth delays and dysmorphic facial features characteristic of children with FASDs. [Jones: 2006]

General

Direct observation of the patient can provide many clues for mental health concerns, such as distractibility, inattentiveness, restlessness, fidgeting, impulsivity, lack of boundaries. Providers need to ask directly about current mood and any suicidal or homicidal thoughts.

Vital Signs

Hypertension may indicate the presence of undiagnosed renal or renovascular anomalies. (Note that the absence of hypertension does not ensure normal renal organ and vascular structure.)

Growth Parameters

Information about prenatal and postnatal growth (height, weight, and head circumference) should be documented. Psychotropic medications may affect appetite and, subsequently, weight. Head circumference is generally at or below the 10th percentile. The CDC recommends plotting growth on the World Health Organization (WHO) charts for ages 0-2 and the CDC charts for 2-18 year olds. (Growth Charts for Ages 0-2 Years (WHO) and for Ages 2-18 (CDC))

Skin

Children with FASDs may appear hirsute, particularly over the back. Hemangiomas occur quite frequently. Note excoriations/scars, lesions, and other evidence of self-injurious behavior or repetitive skin picking.

HEENT

In FAS, at least 2 of the following cardinal minor malformations of the face must be present:
  • Short palpebral fissures (at or below 10th percentile)
  • Thin vermillion border of the upper lip
  • Smooth philtrum
Among other malformations consistent with FASDs but not diagnostic are:
  • Mid-face hypoplasia
  • Railroad Track Ears (link leads to Google images)
  • Strabismus, ptosis, retinal vascular anomalies, optic nerve hypoplasia
  • Epicanthal Folds (link leads to MedlinePlus image)
  • Flat nasal bridge
  • Anteverted Nares (link leads to National Human Genome Research Institute images)
  • Long philtrum

Chest

Pectus carinatum/excavatum may be seen in some individuals with FASDs.

Heart

Listen for cardiac murmur. Common defects in children with FASDs include atrial septal defects, aberrant great vessels, ventricular septal defects, and/or conotruncal defects.

Extremities/Musculoskeletal

Among other malformations consistent with FASDs but not diagnostic are:
  • Hypoplastic nails
  • Decreased pronation/supination of the elbow - radioulnar synostosis
  • Clinodactyly of the 5th fingers
  • Large joint contractures
  • Camptodactyly
  • “Hockey stick” palmar creases (link leads to Google images)

Testing

Sensory Testing

Assess hearing and eye sight. Conductive or neurosensory hearing loss, retinal malformations, strabismus, and/or refractive errors may exacerbate the developmental problems associated with FASDs.

Imaging

Imaging is not routinely recommended. If concern is triggered by clinical findings, MRI of the brain may document structural central nervous system defects; echocardiogram may demonstrate cardiac defects, such as atrial or ventricular septal defects or aberrant great vessels; and ultrasonography of the kidneys may show aplastic/hypoplastic/dysplastic kidneys, “horseshoe kidneys,” or ureteral duplications.

Genetic Testing

Because the phenotype of FAS overlaps with a number of genetic conditions, obtaining a microarray, exome sequencing, or other specific genetic tests to assess for aneuploidy may help refine the differential diagnosis. [Douzgou: 2012] In particular, a microarray may reveal a genetic etiology instead of an FASD for children with atypical features or family histories of learning difficulties, structural anomalies, or recurrent pregnancy loss.

Other Testing

Formal developmental, psychological, and/or neuropsychological testing should be considered when there is concern for the following deficits:
  1. Global cognitive deficit (decreased IQ or developmental delay in those too young for formal IQ assessment)
  2. Cognitive deficits or significant developmental discrepancies (e.g., specific learning disabilities, especially math and/or visual-spatial deficits)
  3. Executive function deficits
  4. Motor functioning delays or deficits (gross and/or fine motor)
  5. Attention and hyperactivity problems
  6. Social skills problems
  7. Other domains that include sensory deficits, pragmatic language problems, memory deficits, and difficulty responding to common parenting practices

Subspecialist Collaborations & Other Resources

Evaluation of children suspected of having an FASD typically involves a psychologist/neuropsychologist, an education specialist, an interviewer skilled in sensitivity and eliciting details regarding maternal alcohol and other substance use, and an audiologist or other therapists skilled in assessing children with a wide range of disabilities. Specific subspecialist collaborations may include:

Fetal Alcohol Spectrum Disorders Clinics (see Services below for relevant providers)

If available, these clinics provide comprehensive initial and ongoing evaluation and help with determining and coordinating needed additional assessments.

Pediatric Genetics (see Services below for relevant providers)

A geneticist trained in family history and phenotype analysis can be helpful in confirming or excluding the diagnosis. Often geneticists are the most knowledgeable medical experts available and have knowledge of local resources because affected children are often thought to have a genetic syndrome.

Developmental - Behavioral Pediatrics (see Services below for relevant providers)

Refer for help with differential diagnoses and for sorting out factors contributing to developmental delays.

Pediatric Otolaryngology (see Services below for relevant providers)

Refer for evaluation of hearing deficits, particularly for concern about needing pressure equalization tubes.

Pediatric Ophthalmology (see Services below for relevant providers)

If clinically indicated, refer for evaluation of retinal or other ocular abnormalities.

Pediatric Nephrology (see Services below for relevant providers)

If clinically indicated, refer for help evaluating findings of renal abnormalities.

Pediatric Cardiology (see Services below for relevant providers)

This is an important referral whenever clinical findings suggest a cardiac abnormality.

Psychiatrist, Child-18 (MD) (see Services below for relevant providers)

Because FASDs are often accompanied by disruptive behavior and emotional problems, working with mental health providers to identify and treat these conditions is important. May be particularly helpful in sorting out causation for attention problems, depression, anxiety, and guiding the approach to treatment.

Treatment & Management

Overview

Brain Regions That May Be Involved with FASDs
Regions of the Brain that can be Affected in FASD
Developmental and educational progress are the areas predominantly affected by FASDs and should be followed in a structured fashion to identify problems early. These areas can be divided into cognitive and behavioral domains. Though no “magic bullet” exists to fix the problems encountered by children with FASDs, interventions are evolving to help manage specific aspects of the condition.

Image (left): Brain regions where chemical neurotransmitter system alterations have been demonstrated in models of fetal alcohol spectrum disorders. (public domain license)

How should common problems be managed differently in children with Fetal Alcohol Spectrum Disorders?

Growth Or Weight Gain

Growth retardation is a common feature of FASDs and poor height and/or weight gain can pose a special problem in pharmacological management of ADHD, which may result in appetite reduction. Power Packing the child's diet while maintaining effective dosages of stimulant medication may help. Although underweight tends to persist in those who meet full FAS criteria, children with PFAS/ARND have higher rates of overweight and obesity by adolescence. [Fuglestad: 2014]

Bacterial Infections

Maternal alcohol use increases the risk of chorioamnionitis by 5 to 7 times. [Gauthier: 2015] Alcohol-exposed infants who are small for gestational age have 2.5 times the risk of bacterial infection in the neonatal period and 3 times the risk of neonatal infection when maternal consumption of 7 or more drinks weekly occurred during pregnancy. [Gauthier: 2015]

Pearls & Alerts

Treating ADHD in children with FASDs

Although stimulant medications may be less effective for treating ADHD in children with FASDs, no other medications seem more effective. Because ADHD contributes to many functional problems, managing the side effects of stimulants (including reduced appetite) is usually attempted before discontinuing this medication class. For children who experience excessive anxiety or moodiness on stimulants, switching to an alpha-2 agonist can be an option; these may be particularly helpful for children whose most problematic symptoms related to ADHD are hyperactivity and impulsivity.

Hidden nature of FASDs

A challenging aspect of FASDs for older children is the “hidden” nature of the disorder and its specific disabilities. Affected individuals can give the impression of being more capable than they really are, understanding more than they do, or seeming to master material (but then forgetting it).

Systems

Development (general)

Major developmental issues that require attention or intervention:
  • Infants: Sensory and regulatory problems are common. Poor sleep-wake cycles, irritability, failure to thrive, and nursing difficulties are reported frequently.
  • Toddlers and preschoolers: Common issues include fine and gross motor delays, failure to comply with parental or other authority, loss of previous learning, poor sleep patterns, and toileting difficulties. Children may be fidgety, easily distracted, or unable to focus attention. Sensory issues might emerge or become more pronounced, like hypersensitivity to certain food textures, sounds, and fabrics.
  • School-age children: While school-age children may have neurocognitive deficits across all areas and domains of function, attention problems are particularly common. Executive functioning deficits become more apparent as children are expected to learn more abstract concepts, including understanding cause-and-effect relationships and learning from mistakes. Visual-spatial abilities and math skills are often weak. Social skill deficits (e.g., understanding social boundaries, reading social cues, and relating to peers) become more apparent as children age.
  • Adolescents: The cognitive, behavioral, and functional problems associated with FASDs usually persist and may be magnified, putting teens at risk for any combination of anxiety, depression, poor self-esteem, and substance abuse.
Interventions for developmental problems often involve specialist physicians, allied professionals, and educators. Success hinges on implementation of the care plan at home, in the school system, and through the entire medical process.

Subspecialist Collaborations & Other Resources

Fetal Alcohol Spectrum Disorders Clinics (see Services below for relevant providers)

If available, clinics can provide substantial guidance in designing a treatment plan, identifying and coordinating the best local service providers and community resources, and working with schools.

Pediatric Genetics (see Services below for relevant providers)

Many geneticists have taken a particular interest in FASDs and have developed expertise and knowledge of local resources and prevention of secondary disabilities. [Douzgou: 2012]

Developmental - Behavioral Pediatrics (see Services below for relevant providers)

May be helpful in sorting out and addressing the contributing factors to developmental delays.

Developmental Pediatrics (see Services below for relevant providers)

May be helpful in sorting out and addressing the contributing factors to developmental delays.

Early Intervention for Children with Disabilities/Delays (see Services below for relevant providers)

These low-cost programs involve in-home therapy and/or therapy within a playgroup. Each state provides early intervention services differently. In Utah, a diagnosis of FAS automatically qualifies the child for services. If an FASD cannot be established, documentation of developmental delay can help the child to qualify for the program.

Physical Therapy (see Services below for relevant providers)

May be useful for affected individuals with motor development or coordination delays. Some therapists are adept at alternative approaches to learning and treating sensory issues.

Occupational Therapy, Pediatric (see Services below for relevant providers)

May help affected children with adaptive skills, fine motor problems, and sensory processing problems.

Speech Therapy (see Services below for relevant providers)

May be helpful for those with delayed language, speech, or communication skills.

Learning/Education/Schools

Children with FASDs often have deficits in verbal and spatial learning, planning, working memory, cognitive flexibility, and inhibition. They also have much higher rates of learning disabilities in the areas of reading, spelling, and mathematics. Specific deficits may include:
  • Intellectual ability: Individuals with FAS have lower intelligence quotients (IQs) than those with other FASD diagnoses. Lower IQs with or without facial abnormalities, and normal IQs with facial abnormalities contribute to the complexities of recognizing FASDs. IQs for those with FASDs may vary in individuals, but is stable over time. [Streissguth: 2004]
  • Attention and processing speed: Infants, children, and adolescents have slower processing speed. More specifically, school-age children have deficient processing speed when performing tasks that require effortful (rather than automatic) processing. Infants also have decreased visual reaction time. Continuous performance tests indicate vigilance impairment. These individuals also have difficulty with response inhibition and problems with aspects of attention, investment, organization, and maintenance.
  • Executive functioning: Children with FASDs often have impaired executive functioning that affects their ability to complete tasks that require sustained effort. Overall, these individuals struggle with cognitive planning and use ineffective strategies for problem solving. They have impairment in working memory, response inhibition, and difficulty altering behavior in response to reinforcement contingencies. Nonverbal and verbal fluency tend to be problematic (e.g., generation of words beginning with certain letters under specific constraints).
  • Visual perception and visual construction: Visual perception is typically normal unless the individual is performing a task that requires integration of information (e.g., planning and visual motor). IQ may correlate with a person’s ability to integrate information, especially shifting attention from global to local features. Visual construction may be markedly impaired. These deficits can cause children to misunderstand gestures in communication. They can affect handwriting and cause problems with social perception.
  • Learning and memory: Conditioning and habituation is diminished in infants. Children struggle with delayed object recall, but not immediate object recall. Delayed free recall is affected but not delayed recognition, which is attributed to problems with encoding rather than memory. Once established, the retention of memory is comparable to typical individuals, though those with FASDs may require alternative teaching methods or more trials to ensure mastery. In general, both visual and verbal learning and memory are impaired.
  • Number processing: Individuals with FASDs struggle with number processing, which stems from deficits with calculation and cognitive estimation rather than deficits with the simpler tasks of reading and writing numbers.
Educational and Cognitive Interventions
These interventions address cognitive and executive functioning impairments that can interfere with learning and appropriate classroom behavior. Deficits in verbal and spatial learning, planning, working memory, cognitive flexibility, inhibition, problem solving, reading, spelling, and math call for teaching strategies and classroom modifications:
  • Cognitive control therapy (CCT): Teaches strategies for acquiring and organizing information. [Santostefano: 1988] Key areas targeted include 1) being more aware of body position and movements; 2) focal attention through scanning and then prioritizing information; 3) processing information while distracting stimuli are present; 4) controlling external information; and 5) categorizing information. In one study, children who completed CCT were reported by teachers to have improved classroom behavior, academic achievement, writing skills, self-confidence, and a better attitude toward school and learning.
  • Language and literacy training: Focuses on enhancing pre-literacy and early literacy skills in 9-year-olds with FASDs. [May: 2009] [Adnams: 2007]
  • Self-regulation intervention: Focuses on enhancing self-regulation skills and improving executive functioning deficits in 6- to 11-year-old children with FASDs who have been adopted or are in foster care. [Bertrand: 2009] The Medical Home Portal's Foster Care has more information.
  • Mathematics training: Focuses specifically on math learning disabilities, which are common in children with FASDs. Before being assigned to treatment or control arms, caregivers attend 2 workshops to learn about FASDs and receive instructions on promoting positive behavioral regulation skills in their children. [Kable: 2007]
  • Working-memory strategies: Teaches rehearsal strategies to improve working memory. For example, with rehearsal training children are first tested with a digit span memorization task. Afterward, the children are taught to “keep whispering the names of the items (or digits) over and over in your head.” In this way, children “rehearse” the information, making it easier to later recall. There is behavioral and caregiver-reported evidence that children who are specifically taught to rehearse in this way will later demonstrate spontaneous use of this technique for working memory tasks. [Loomes: 2008]
  • Behavioral intervention: Some children with an FASD and significantly disruptive behavior may be placed in a classroom setting with an emphasis on behavioral management that uses a clear, concrete, positive reinforcement schedule to shape behaviors into more appropriate interactions with peers and adults.
A diagnosis of FAS may be helpful in obtaining coverage for services, particularly within school systems. Special education placement may be valuable. FASDs are not currently specified in the IDEA Part B legislation or regulations; however, special education designations that might be appropriate include intellectual disability, learning disability, language disorder, other health impaired, and, in rare cases, autism. A child might qualify for services under 504 plans that provide for the education of children with special needs that do not qualify as special education students. See Education & Schools and Frequently Asked Questions About Section 504 and the Education of Children with Disabilities (ED).

Subspecialist Collaborations & Other Resources

Mental Health Infant/Preschool (see Services below for relevant providers)

Refer for specific issues.

Speech Therapy (see Services below for relevant providers)

Refer for specific issues.

Occupational Therapy, Pediatric (see Services below for relevant providers)

Refer for specific issues.

Physical Therapy (see Services below for relevant providers)

Refer for specific issues.

School Districts (see Services below for relevant providers)

Each school district will have an office responsible for assuring appropriate services are provided to qualifying students. Contact the district officials if the school is unable or unwilling to offer needed services.

Mental Health/Behavior

Interventions usually incorporate various combinations of parent training or education; teaching children specific skills they would have otherwise learned by observation; and integration into existing systems of treatment. Interventions focused on adaptive skills (communication, socialization, and personal and community skills) include:
  • Social skills interventions: Children's Friendship Training group therapy teaches social skills to help affected children be accepted by peers. Skills includes interacting with peers in a way that leads to common-ground activities, peer entry, and play; parent receive instruction in peer network formation. [O'Connor: 2006]
  • Safety skills interventions: Computer games are used to teach fire and street safety. [Coles: 2007]
Behavioral interventions detailed in the review by [Paley: 2011] have been shown to improve function in school-age children affected by an FASD. A review by [Idrus: 2011] highlights biochemical interventions that target the underlying mechanisms of prenatal alcohol-induced brain damage or enhance central nervous system plasticity during or after exposure. Their findings, from animal models only, are not clinically available and beyond the scope of this module.

Subspecialist Collaborations & Other Resources

Public Schools (see Services below for relevant providers)

After 3 years of age, school systems become involved, providing developmental and educational services. 

Family

Raising a child with an FASD is associated with high levels of parenting stress and is well-described in The Family Stress Process: The Double ABCX Model of Adjustment and Adaptation. In this model, the stress of raising a child with a disability is a function of child’s characteristics, parental perception of the child’s disability, and access to resources within and outside the family. Of children with FASDs, only around 15-20% are being raised by their biological parents; most are raised by foster or adoptive parents who may be extended biological family members. Another unique stressor is the difficulty in obtaining an FASD diagnosis, particularly when key facial features and a history of maternal drinking during pregnancy are lacking. The diagnosis is key to accessing many services. Children with FASDs may also face the problem of “an invisible disability” because their intellectual impairment is not made apparent by physical characteristics. 

In one study, 95% of parents of children with an FASD scored at or above the 90th percentile for parenting stress, particularly on measures of severity of difficult behaviors, negative parent-child interactions, and pessimism related to the child’s future ability to become independent. [Watson: 2013] A study that included biological mothers who retained custody of their FASD-affected children found shame, guilt, and judgment as unique contributors to stress. Adoptive families in the same study described grief, which was exacerbated if they were not aware of the alcohol exposure at the time of adoption. [Sanders: 2010]

Children with FASDs often have tantrums and display aggression and destructive behaviors. Because contingency learning is often poor, the logical consequences used to manage behavior in neurotypical children are largely ineffective. Learning and memory are also often affected, making rigid routines and frequent cueing necessary to teach the basic activities of daily living. This adds to frustration because of the need to teach and re-teach the same skills (e.g., how to tie shoes).

As children become adolescents, new social problems tend to manifest first at school. Children who are socially disinhibited and have poor executive functioning may want to connect with others, but be easily drawn to social groups and other children who have behavioral problems. The child with an FASD can then have difficulty evaluating the consequences of actions that peers encourage (e.g., buying cigarettes for peers in order to make friends). Individuals with an FASD are at much higher risk for legal troubles.

Parent-focused interventions equip caregivers with strategies to reduce stress, increase self-efficacy, and foster more positive parent-child relationships. One such intervention, ,Families Moving Forward, uses behavioral consultation to increase parental self-efficacy and reduce behavior problems by providing:
  • Direct coaching to parents (16 in-home sessions every other week over 9-11 months)
  • Training to families to re-frame thoughts and attitudes about behavioral problems as caused by the neuro-teratogenic effects of prenatal alcohol, rather than intentional non-compliance
  • Consulting with schools and connecting families to community services as needed.
Structure, brevity, and persistence are key when working with children with FASDs. Although each child is unique, the following tips can be helpful (for neurotypical kids also):
  • Concentrate on the child’s strengths and talents.
  • Accept the child’s limitations.
  • Be consistent with everything (discipline, school, behaviors).
  • Use concrete language and examples.
  • Use stable routines that do not change.
  • KIS: Keep it simple.
  • Be specific, say exactly what you mean.
  • Structure the child’s world to provide predictability and consistency.
  • Use visual aids, music, and hands-on experience to assist with the learning process.
  • Supervise friends, visits, routines.
  • Repeat, repeat, repeat.
For children remaining with the birth family, be aware that parental drinking may persist. Intervention for family alcohol abuse is beyond the scope of this module, but many resources are available – search the Portal’s Services Directory for “Alcohol” and, if too many resources are returned, narrow by city.

Subspecialist Collaborations & Other Resources

Fetal Alcohol Spectrum Disorders Clinics (see Services below for relevant providers)

If available, these experts can provide substantial guidance and help in designing a treatment plan, identifying and coordinating the best local service providers and other resources, and working with schools.

Psychologist, Child-18 (PhD, PsyD) (see Services below for relevant providers)

May be helpful for families and affected children in understanding the behavioral dynamics, evaluating co-morbid mental health conditions (e.g., depression), and devising behavioral management programs.

Ears/Hearing

Cleft palate-associated hearing problems and recurrent otitis media associated with respiratory infections are the most common causes of hearing problems in children with FASDs, which may exacerbate developmental issues. No unique intervention is required, but clinicians should be attentive for these problems.

Subspecialist Collaborations & Other Resources

Audiology (see Services below for relevant providers)

Refer as needed to monitor hearing status, evaluate for and adjust amplification, and help families identify intervention services and adaptations.

Pediatric Otolaryngology (see Services below for relevant providers)

Consider referral for recurrent otitis media and conductive hearing loss, or if unable to visualize the ear drum or monitor for effusion.

Schools for the Deaf & Blind (see Services below for relevant providers)

Referral to a school's Parent Infant Program for children 0 to 3 with vision and/or hearing impairments may be helpful.

Immunology/Infectious Disease

Infants with FASDs may have poor immune function and experience multiple bouts of otitis media and upper respiratory infections. While the role of immune function is not well understood or characterized, limited research suggests that in utero suppression of the hypothalamic-pituitary-adrenal (HPA) axis may lead to suppressed immune function later in life via increased glucocorticoid production. The management of these conditions is the same as for those in any child. 

Nutrition/Growth/Bone

Small stature, poor growth, and failure to thrive are common, but no specific interventions have been found to be particularly effective. Clinicians must be alert to other medical conditions that may cause or contribute to abnormal growth. While the child with FAS may be growth deficient in height and/or weight, other children with an FASD will demonstrate normal growth.

Typically, but not universally, higher degrees of growth restriction and dysmorphology coincide with increased severity of neurodevelopmental disability. [Ervalahti: 2007] Poor growth and weight gain could pose concern when treating ADHD, since stimulant medications frequently reduce appetite and resultant weight loss. Power Packing the child’s diet can help while maintaining effective dosages of medication. Although underweight tends to persist in children who meet FAS criteria, those with PFAS/ARND diagnoses have higher rates of overweight and obesity by adolescence. [Fuglestad: 2014] Management information can be found in the Portal’s Childhood Obesity.

Subspecialist Collaborations & Other Resources

Pediatric Orthopedics (see Services below for relevant providers)

Helpful if physical exam findings are consistent with skeletal anomalies that can impair function or cause pain, such as radioulnar synostosis, vertebral segmentation defects or scoliosis, or large joint contractures.

Pediatric Gastroenterology (see Services below for relevant providers)

May be helpful if failure to thrive or malnutrition are considerations and the cause is not clear.

Nutrition Assessment Services (see Services below for relevant providers)

Helpful in assessing nutritional status and adequacy of caloric intake, recommending special formulas and nutritional supplements, and determining safety of nutritional supplements used for complementary therapy.

Pharmacy & Medications

Attention deficit is one of the most common symptoms of FASDs. While a trial of stimulant medication is often warranted, children with FASDs do not respond as consistently as other children. Depending on the co-morbid condition, other medications that might be used include antidepressants, neuroleptics, and anti-anxiety drugs. The Portal's Attention Deficit Hyperactivity Disorder (ADHD), Treatment & Management provides management details.

Subspecialist Collaborations & Other Resources

Developmental - Behavioral Pediatrics (see Services below for relevant providers)

Refer for help or with more challenging patients or for further referrals.

Psychiatrist, Child-18 (MD) (see Services below for relevant providers)

Given the atypical response to stimulants among affected children, child psychiatry may be helpful in guiding use of non-typical medications, when indicated.

Sleep

Problematic sleep behaviors (though not formal sleep disorders) are 5 times more common in FASD-affected children than in controls. [Hanlon-Dearman: 2003] Sleep-related problems in the FASD-affected group included increased bedtime resistance, greater sleep anxiety, delayed sleep onset, more nighttime awakenings, increased incidence of parasomnias (e.g., nightmares, enuresis), and shorter overall sleep duration (waking earlier than necessary or desired by the family). FASD-affected children also had more difficulty returning to sleep after nighttime awakenings, which frequently resulted in problematic and sometimes unsafe behaviors such as climbing on furniture, accessing dangerous household items (e.g., knives), or excessive eating. These sleep problems were associated with a relatively high degree of caregiver and family stress.

Encouragement and maintenance of sleep hygiene are first-line treatments while keeping in mind that children with FASDs are less able to adapt to even minor changes.  [Jan: 2010] Consistent bedtimes and related activities can be helpful. Deficient or inappropriate functioning of melatonin in children with FASDs suggest consideration of melatonin therapy. [Wasdell: 2008]

See Fetal Alcohol Spectrum Disorders and Sleep for further details.

Subspecialist Collaborations & Other Resources

Pediatric Sleep Medicine (see Services below for relevant providers)

May be helpful if standard approaches to sleep hygiene are insufficient or to determine contributing factors that might benefit from specific intervention.

Transitions

Transition to adult care and social services is a major function of the medical home and may present significant challenges for the young adult with FASDs. The American Academy of Pediatrics recommends starting the transition as early as 12-13 years of age with a discussion of the office transitions policy with the child and parents. Further detail on transition planning is available at [Cooley: 2011].

Some of the services for which individuals with an FASD diagnosis might qualify:

Subspecialist Collaborations & Other Resources

Family Medicine (see Services below for relevant providers)

Assist families in finding an adult primary care clinician who has with the broadest relevant experience, particularly on in the mental health side. Sharing information about both the patient and the condition and remaining available for consultation, should ease the transition.

Frequently Asked Questions

How does one distinguish FASDs from Autism Spectrum Disorder (ASD)?

Children with FASDs are usually more able than autistic children to use gestures and nonverbal communication to interact, demonstrate empathy, and express enjoyment in social overtures. ASD and FASDs differ in their characteristic patterns of cognitive disability. One study found that 79% of children with ASD had a higher nonverbal than verbal IQ; the opposite was true for children with FASDs. [Bishop: 2007] For more details, see Distinguishing Fetal Alcohol Spectrum Disorders from Autism Spectrum Disorder.

How can I help to optimize education for children with FASDs?

Establishing appropriate expectations based on formal neurocognitive evaluations sets the child up to succeed. Caregivers will need to reduce distractions, express concrete directions, and manage disruptive behaviors through a systematic, child-specific behavior plan that provides positive reinforcement for desired behaviors.

What medications treat FASDs?

No medications treat the underlying injury of FASDs, rather medications target comorbidity that can have a substantial impact of a child’s functioning and quality of life.

What promising treatments are on the horizon for children with an FASDs?

The National Institutes of Health – National Institute of Alcohol Abuse and Alcoholism (NIAAA) published 2 reviews of promising interventions for children with FASD in 2011. The behavioral interventions detailed in the review by [Paley: 2011] have been shown to improve function in school-aged children affected by FASD. The review by [Idrus: 2011] highlights biochemical interventions that target the underlying mechanisms of prenatal alcohol-induced brain damage or enhance CNS plasticity during or after exposure. Their findings, from animal models only, are not clinically available.

Issues Related to Fetal Alcohol Spectrum Disorders

Resources

Information for Clinicians

FASD: Guidelines for Referral and Diagnosis (CDC) (PDF Document 612 KB)
Provides information about diagnostic criteria, differential diagnoses, referral considerations, services, and prevention; Centers for Disease Control and Prevention in coordination with the National Task Force on Fetal Alcohol Syndrome and Fetal Alcohol Effects, which includes the American Academy of Pediatrics and other groups.

FASD: Information for Healthcare Providers (CDC)
A comprehensive list of articles, patient education, videos, and training for clinicians; Centers for Disease Control & Prevention.

Addressing Fetal Alcohol Spectrum Disorders (SAMHSA)
Provides prevention, intervention, and treatment information for behavioral health providers, program administrators, and clinicians in a 226-page booklet; Substance Abuse and Mental Health Services.

FASD: Identification and Management (online course from AAP)
Learning objectives are to identify clinical features that should prompt referral, use appropriate screening questions to determine prenatal alcohol exposure, recognize the signs and symptoms of prenatal alcohol exposure (PAE). and describe how to develop a referral network for care coordination and co-management. Free for members and non-members; American Academy of Pediatrics.

Fetal Alcohol Spectrum Disorders Program (AAP)
By navigating the topics on the left-hand side of this webpage, clinicians can find a wealth of information about diagnosis, referral, patient management, and care coordination.

Helpful Articles

Barry KL, et al.
Fetal Alcohol Syndrome: Guidelines for Referral and Diagnosis.
National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Department of Health and Human Services. 2004. / http://www.cdc.gov/ncbddd/fasd/documents/FAS_guidelines_accessible.pdf
Detailed information about diagnostic criteria, differential diagnoses, referral considerations, services, and prevention.

Bertrand J.
Interventions for children with fetal alcohol spectrum disorders (FASDs): overview of findings for five innovative research projects.
Res Dev Disabil. 2009;30(5):986-1006. PubMed abstract
An overview of a general intervention model and the findings of 5 intervention studies conducted within this framework. Results revealed a significant treatment effect on a parent report measure of executive functioning.

Hagan JF Jr, Balachova T, Bertrand J, Chasnoff I, Dang E, Fernandez-Baca D, Kable J, Kosofsky B, Senturias YN, Singh N, Sloane M, Weitzman C, Zubler J.
Neurobehavioral Disorder Associated With Prenatal Alcohol Exposure.
Pediatrics. 2016;138(4). PubMed abstract

Peadon E, Elliott EJ.
Distinguishing between attention-deficit hyperactivity and fetal alcohol spectrum disorders in children: clinical guidelines.
Neuropsychiatr Dis Treat. 2010;6:509-15. PubMed abstract / Full Text
Examines the relationship between ADHD and FASD and discusses treatments.

Riley EP, Infante MA, Warren KR.
Fetal alcohol spectrum disorders: an overview.
Neuropsychol Rev. 2011;21(2):73-80. PubMed abstract / Full Text
Discusses the evolving considerations for diagnosis of FASDs and includes a comparison of the various diagnostic schemas.

Williams JF, Smith VC.
Fetal Alcohol Spectrum Disorders.
Pediatrics. 2015;136(5):e1395-406. PubMed abstract / Full Text
Focuses on the role of the medical home in prevention, intervention, and treatment of FASDs.

Clinical Tools

Assessment Tools/Scales

Dysmorphology Scoring System - FASD
The dysmorphology score is a weighted calculation based on assigning points to clinical findings characteristic of FASDs; from the Hoyme, et al, 2005 publication "A Practical Clinical Approach to Diagnosis of Fetal Alcohol Spectrum Disorders: Clarification of the 1996 Institute of Medicine Criteria."

FAS Facial Analysis Software (University of Washington)
The software was developed for use by health care and research professionals to measure the magnitude of the diagnostic facial features of FAS. It then scores the outcomes of these facial measures using the 4-Digit Diagnostic Code.

Facial Features Associated with Fetal Alcohol Syndrome (University of Washington)
Photos of FAS facial phenotype across race and photos of a lip philtrum guide.

Growth/BMI Charts

Growth Charts for Ages 0-2 Years (WHO) and for Ages 2-18 (CDC)
Provides links to 2 comprehensive sets of growth charts: the CDC Clinical Growth Charts (preferred for use with children 24 months and older) and the World Health Organization (WHO) Charts (preferred for children under 24 months); Centers for Disease Control and Prevention.

Patient Education & Instructions

Fetal Alcohol Exposure (NIH) (PDF Document 454 KB)
Three-pages of information about the possible consequences of fetal alcohol exposure; National Institutes of Health.

Patient/Family Questionnaires/Diaries/Data Tools

Timeline Followback Sample Calendar and Instructions (Nova Southeastern University)
Free of charge to help ascertain the level of maternal drinking during pregnancy.

Toolkits

Bright Futures in Practice: Mental Health—Volume II, Tool Kit
Tools, forms, and lists related to mental health for health professionals, schools and families; Georgetown University.

Information & Support for Families

Family Diagnosis Page

Information on the Web

Fetal Alcohol Spectrum Disorders (CDC)
Comprehensive information about FASDs; Centers for Disease Control & Prevention.

National Organization on Fetal Alcohol Syndrome
This nonprofit organization provides a wealth of information and links to local resources and summer camps for children with FASDs.

Let's Talk FASD (VON) (PDF Document 1.4 MB)
A parenting tool containing Canadian guidelines and additional resources; VON Canada National Office.

Fetal Alcohol Syndrome (MedlinePlus)
Provides an overview of FAS and links to more information about symptoms, diagnosis, research, and more; from the National Library of Medicine.

Strategies and Interventions for Children with FASD (MN Adopt) (PDF Document 20 KB)
Three-page fact sheet with strategies to help parents raise children with FASDs; from the Minnesota Adoption Support and Preservation program.

Therapies that Help Children with FASDs (MN Adopt) (PDF Document 14 KB)
Three-page fact sheet that identified how occupational, physical, and speech therapies can help children with FASDs; from the Minnesota Adoption Support and Preservation program.

Frequently Asked Questions About Section 504 and the Education of Children with Disabilities (ED)
Clarifies pertinent requirements of Section 504 and answers more than 40 often-asked questions; U.S. Department of Education.

Support National & Local

Circle of Hope
For women who consumed alcohol during pregnancy and may have a child or children affected with an FASD; members are known as “Warrior Moms” to recognize their strengths. Organized by the NOFAS Vice President Kathy Mitchell in 2004.

Center for Parent Information and Resources
A large resource library related to children with disabilities. Locate organizations and agencies within each state that address disability-related issues.

Studies/Registries

Fetal Alcohol Spectrum Disorders and Children (clinicaltrials.gov)
An up-to-date list of clinical trials related to FASDs

Services for Patients & Families

Audiology

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Career Counseling

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Developmental - Behavioral Pediatrics

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Developmental Pediatrics

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Disability Transportation

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Early Intervention for Children with Disabilities/Delays

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Family Medicine

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Family Support Organizations

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Family Support, General

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Fetal Alcohol Spectrum Disorders Clinics

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Independent Living

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Mental Health Infant/Preschool

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Nutrition Assessment Services

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Occupational Therapy, Pediatric

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Pediatric Cardiology

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Pediatric Gastroenterology

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Pediatric Genetics

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Pediatric Nephrology

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Pediatric Ophthalmology

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Pediatric Orthopedics

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Pediatric Otolaryngology

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Pediatric Sleep Medicine

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Physical Therapy

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Psychiatrist, Child-18 (MD)

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Psychologist, Child-18 (PhD, PsyD)

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Public Schools

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Respite Care

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SSI, Supplemental Security Income

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School Districts

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Schools for the Deaf & Blind

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Speech Therapy

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For other services related to this condition, browse our Services categories or search our database.

Authors

Contributing Authors: Patrick Shea, MD - 3/2017
Lisa M. Ruiz, MD - 3/2017
Jennifer Goldman-Luthy, MD, MRP, FAAP - 3/2015
Susan Lewin, MD - 2/2015
Reviewing Authors: Deborah Bilder, MD - 3/2017
Chuck Norlin, MD - 3/2017
Meghan Candee, MD - 3/2015
Content Last Updated: 3/2017

Bibliography

Adnams CM, Sorour P, Kalberg WO, Kodituwakku P, Perold MD, Kotze A, September S, Castle B, Gossage J, May PA.
Language and literacy outcomes from a pilot intervention study for children with fetal alcohol spectrum disorders in South Africa.
Alcohol. 2007;41(6):403-14. PubMed abstract / Full Text

Barry KL, et al.
Fetal Alcohol Syndrome: Guidelines for Referral and Diagnosis.
National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Department of Health and Human Services. 2004. / http://www.cdc.gov/ncbddd/fasd/documents/FAS_guidelines_accessible.pdf
Detailed information about diagnostic criteria, differential diagnoses, referral considerations, services, and prevention.

Bertrand J.
Interventions for children with fetal alcohol spectrum disorders (FASDs): overview of findings for five innovative research projects.
Res Dev Disabil. 2009;30(5):986-1006. PubMed abstract
An overview of a general intervention model and the findings of 5 intervention studies conducted within this framework. Results revealed a significant treatment effect on a parent report measure of executive functioning.

Bertrand J, Floyd LL, Weber MK.
Guidelines for identifying and referring persons with fetal alcohol syndrome.
MMWR Recomm Rep. 2005;54(RR-11):1-14. PubMed abstract / Full Text

Bishop S, Gahagan S, Lord C.
Re-examining the core features of autism: a comparison of autism spectrum disorder and fetal alcohol spectrum disorder.
J Child Psychol Psychiatry. 2007;48(11):1111-21. PubMed abstract

Burd L, Klug MG, Martsolf JT, Kerbeshian J.
Fetal alcohol syndrome: neuropsychiatric phenomics.
Neurotoxicol Teratol. 2003;25(6):697-705. PubMed abstract / Full Text

Center on Human Development & Disability.
FAS diagnostic and prevention network.
University of Washington; (2014) https://depts.washington.edu/fasdpn/. Accessed on March 2017.
Includes validation of the FASD 4-Digit Code and other resources.

Chudley AE, Conry J, Cook JL, Loock C, Rosales T, LeBlanc N.
Fetal alcohol spectrum disorder: Canadian guidelines for diagnosis.
CMAJ. 2005;172(5 Suppl):S1-S21. PubMed abstract / Full Text
Canadian guidelines for the diagnosis of FAS and its related disabilities, developed by broad-based consultation among experts in diagnosis.

Coles CD, Strickland DC, Padgett L, Bellmoff L.
Games that work: using computer games to teach alcohol-affected children about fire and street safety.
Res Dev Disabil. 2007;28(5):518-30. PubMed abstract
In this study, 32 children diagnosed with FASDs learned fire and street safety through virtual world computer games to teach recommended safety skills. Results suggested that this is a highly effective method for teaching safety skills to high-risk children who have learning difficulties.

Cooley WC, Sagerman PJ.
Supporting the health care transition from adolescence to adulthood in the medical home.
Pediatrics. 2011;128(1):182-200. PubMed abstract / Full Text

Douzgou S, Breen C, Crow YJ, Chandler K, Metcalfe K, Jones E, Kerr B, Clayton-Smith J.
Diagnosing fetal alcohol syndrome: new insights from newer genetic technologies.
Arch Dis Child. 2012;97(9):812-7. PubMed abstract
Genetic assessment was of particular value in excluding other diagnoses and providing information to careers.

Ervalahti N, Korkman M, Fagerlund A, Autti-Rämö I, Loimu L, Hoyme HE.
Relationship between dysmorphic features and general cognitive function in children with fetal alcohol spectrum disorders.
Am J Med Genet A. 2007;143A(24):2916-23. PubMed abstract
Study findings imply an inverse relationship between growth deficiency/dysmorphic features and cognitive function in children with FASD. Although the correlations are significant, the data suggest that in individual cases, the total dysmorphology score cannot reliably predict cognitive function in later life.

Famy C, Streissguth AP, Unis AS.
Mental illness in adults with fetal alcohol syndrome or fetal alcohol effects.
Am J Psychiatry. 1998;155(4):552-4. PubMed abstract / Full Text

Fuglestad AJ, Boys CJ, Chang PN, Miller BS, Eckerle JK, Deling L, Fink BA, Hoecker HL, Hickey MK, Jimenez-Vega JM, Wozniak JR.
Overweight and obesity among children and adolescents with fetal alcohol spectrum disorders.
Alcohol Clin Exp Res. 2014;38(9):2502-8. PubMed abstract / Full Text

Gauthier TW.
Prenatal Alcohol Exposure and the Developing Immune System.
Alcohol Res. 2015;37(2):279-85. PubMed abstract / Full Text

Hagan JF Jr, Balachova T, Bertrand J, Chasnoff I, Dang E, Fernandez-Baca D, Kable J, Kosofsky B, Senturias YN, Singh N, Sloane M, Weitzman C, Zubler J.
Neurobehavioral Disorder Associated With Prenatal Alcohol Exposure.
Pediatrics. 2016;138(4). PubMed abstract

Hanlon-Dearman, AC.
Sleep Characteristics of Young Alcohol Affected Children; A Quantitative and Qualitative Analysis.
Winnipeg: Department of Community Health Sciences, University of Manitoba. 2003.

Hoyme HE, May PA, Kalberg WO, Kodituwakku P, Gossage JP, Trujillo PM, Buckley DG, Miller JH, Aragon AS, Khaole N, Viljoen DL, Jones KL, Robinson LK.
A practical clinical approach to diagnosis of fetal alcohol spectrum disorders: clarification of the 1996 Institute of Medicine criteria.
Pediatrics. 2005;115(1):39-47. PubMed abstract / Full Text

Idrus NM, Thomas JD.
Fetal Alcohol Spectrum Disorders: Experimental Treatments and Strategies for Intervention.
Alcohol Research and Health. 2011;34(1). / Full Text

Jan JE, Asante KO, Conry JL, Fast DK, Bax MC, Ipsiroglu OS, Bredberg E, Loock CA, Wasdell MB.
Sleep Health Issues for Children with FASD: Clinical Considerations.
Int J Pediatr. 2010;2010. PubMed abstract / Full Text

Jones KL, Robinson LK, Bakhireva LN, Marintcheva G, Storojev V, Strahova A, Sergeevskaya S, Budantseva S, Mattson SN, Riley EP, Chambers CD.
Accuracy of the diagnosis of physical features of fetal alcohol syndrome by pediatricians after specialized training.
Pediatrics. 2006;118(6):e1734-8. PubMed abstract
Accurate and early diagnosis of the fetal alcohol syndrome is important for secondary prevention, intervention, and treatment, yet many pediatricians lack expertise in recognition of the characteristic features of this disorder. After a relatively short training session, pediatricians were reasonably accurate in diagnosing fetal alcohol syndrome on the basis of physical features and in recognizing most of the selected specific features associated with the disorder.

Kable JA, Coles CD, Taddeo E.
Socio-cognitive habilitation using the math interactive learning experience program for alcohol-affected children.
Alcohol Clin Exp Res. 2007;31(8):1425-34. PubMed abstract
These findings suggest that parents of children with FASDs benefit from instruction in understanding their child's alcohol-related neurological damage and strategies to provide positive behavioral supports and that targeted psychoeducational programs may be able to remediate some of the math deficits associated with prenatal alcohol exposure.

Knight JR, Shrier LA, Bravender TD, Farrell M, Vander Bilt J, Shaffer HJ.
A new brief screen for adolescent substance abuse.
Arch Pediatr Adolesc Med. 1999;153(6):591-6. PubMed abstract / Full Text

Loomes C, Rasmussen C, Pei J, Manji S, Andrew G.
The effect of rehearsal training on working memory span of children with fetal alcohol spectrum disorder.
Res Dev Disabil. 2008;29(2):113-24. PubMed abstract
Rehearsal training was found successful at increasing the memory for numbers among children with FASDs and may help to ameliorate working memory difficulties in FASDs.

May PA, Gossage JP, Kalberg WO, Robinson LK, Buckley D, Manning M, Hoyme HE.
Prevalence and epidemiologic characteristics of FASD from various research methods with an emphasis on recent in-school studies.
Dev Disabil Res Rev. 2009;15(3):176-92. PubMed abstract

Miller BS, Kroupina MG, Iverson SL, Masons P, Narad C, Himes JH, Johnson DE, Petryk A.
Auxological evaluation and determinants of growth failure at the time of adoption in Eastern European adoptees.
J Pediatr Endocrinol Metab. 2009;22(1):31-9. PubMed abstract

National Center on Birth Defects and Developmental Disabilities.
Data & Statistics: Fetal Alcohol Spectrum Disorders.
Centers for Disease Control and Prevention; (2017) http://www.cdc.gov/NCBDDD/fasd/data.html. Accessed on March 2017.

O'Connor MJ, Frankel F, Paley B, Schonfeld AM, Carpenter E, Laugeson EA, Marquardt R.
A controlled social skills training for children with fetal alcohol spectrum disorders.
J Consult Clin Psychol. 2006;74(4):639-48. PubMed abstract / Full Text
The efficacy of a child friendship training was assessed for 100 children with FASDs. The findings suggest that children with FASDs benefit from CFT, but that these gains may not be observed in the classroom.

Paley B, O’Connor MJ.
Behavioral Interventions for Children and Adolescents With Fetal Alcohol Spectrum Disorders.
Alcohol Research and Health. 2011;34(1). PubMed abstract / Full Text
Reviews empirically tested interventions, methodological challenges, and suggestions for future directions in research on the treatment of FASDs.

Peadon E, Elliott EJ.
Distinguishing between attention-deficit hyperactivity and fetal alcohol spectrum disorders in children: clinical guidelines.
Neuropsychiatr Dis Treat. 2010;6:509-15. PubMed abstract / Full Text
Examines the relationship between ADHD and FASD and discusses treatments.

Ramsay M.
Genetic and epigenetic insights into fetal alcohol spectrum disorders.
Genome Med. 2010;2(4):27. PubMed abstract / Full Text
The severity of FASD from in utero alcohol exposure depends on many factors, and damage can occur throughout gestation. Preconception alcohol exposure can also have a detrimental effect on the offspring.

Riley EP, Infante MA, Warren KR.
Fetal alcohol spectrum disorders: an overview.
Neuropsychol Rev. 2011;21(2):73-80. PubMed abstract / Full Text
Discusses the evolving considerations for diagnosis of FASDs and includes a comparison of the various diagnostic schemas.

Rovasio RA, Battiato NL.
Role of early migratory neural crest cells in developmental anomalies induced by ethanol.
Int J Dev Biol. 1995;39(2):421-22. PubMed abstract / Full Text

Sanders J, Buck G.
A Long Journey: Biological and non-biological parents’ experiences raising children with FASD.
J Popul Ther Clin Pharmacol. 2010;Vol 17 (2)(Summer). / Full Text

Santostefano, Sebastiano.
Cognitive Control Battery: Manual.
Western Psychological Services; 1988. 102-737-958 http://www.worldcat.org/title/cognitive-control-battery-ccb-manual/ocl...
A progressive skill-building method that teaches strategies for children to acquire and organize information. The goal is for the child to understand his own learning style and learning challenges. It has shown some promising results.

Streissguth A, Kanter J ed.
The Challenge of Fetal Alcohol Syndrome: Overcoming Secondary Disabilities.
1st ed. Seattle: University of Washington Press; 1997. 978-0295976501 http://books.google.com/books?hl=en&lr=&id=UZ8WEp9Ni1QC&oi=fnd&pg=PR7&...

Streissguth AP, Bookstein FL, Barr HM, Sampson PD, O'Malley K, Young JK.
Risk factors for adverse life outcomes in fetal alcohol syndrome and fetal alcohol effects.
J Dev Behav Pediatr. 2004;25(4):228-38. PubMed abstract
Clinical descriptions of patients with Fetal Alcohol Syndrome (FAS) and Fetal Alcohol Effects (FAE) suggest major problems with adaptive behavior. Five operationally defined adverse outcomes and 18 associated risk/protective factors were examined using a Life History Interview with knowledgeable informants of 415 patients with FAS or FAE.

Wasdell MB, Jan JE, Bomben MM, Freeman RD, Rietveld WJ, Tai J, Hamilton D, Weiss MD.
A randomized, placebo-controlled trial of controlled release melatonin treatment of delayed sleep phase syndrome and impaired sleep maintenance in children with neurodevelopmental disabilities.
J Pineal Res. 2008;44(1):57-64. PubMed abstract

Watson SL, Hayes SA, Coons KD, Radford-Paz E.
Autism spectrum disorder and fetal alcohol spectrum disorder. Part II: a qualitative comparison of parenting stress.
J Intellect Dev Disabil. 2013;38(2):105-13. PubMed abstract

Wattendorf DJ, Muenke M.
Fetal alcohol spectrum disorders.
Am Fam Physician. 2005;72(2):279-82, 285. PubMed abstract / Full Text

Williams JF, Smith VC.
Fetal Alcohol Spectrum Disorders.
Pediatrics. 2015;136(5):e1395-406. PubMed abstract / Full Text
Focuses on the role of the medical home in prevention, intervention, and treatment of FASDs.