The three papers by Astley,1 O’Brien and Mattson,2 and O’Connor3 reviewing the current knowledge base of Fetal Alcohol Spectrum Disorders (FASD) reveal the ongoing challenges that face researchers and clinicians, in particular the accurate diagnosis and meaningful differentiation of children who are prenatally-exposed to alcohol.
The diagnosis of Fetal Alcohol Syndrome (FAS) is based on three criteria: growth retardation, central nervous system (CNS) impairment, and characteristic facial dysmorphology.4 However, as acknowledged in all of the papers,1-3 most children with prenatal exposure to alcohol do not fully manifest these criteria but demonstrate a wide range of less specific physical changes and neurodevelopmental deficits. To address this issue, diagnostic terminology has been expanded to include a wide range of signs and symptoms that fall under FASD.5 Although this terminology accomplishes what it was designed to do – encompass all children with prenatal alcohol exposure – its use has muddied the waters and led to even more confusion around the diagnosis of FAS. In addition, an inexact diagnostic approach complicates attempts to address the neurobehavioural profile and the clinical needs of children affected by prenatal alcohol exposure.
Research and Conclusions
Diagnostic classification within FASD
Over the years, the relationship between functional impairment and the physical manifestations of prenatal alcohol exposure has remained unclear. In 2001, Astley and Clarren6 found that alcohol-exposed children with more severe facial phenotypes demonstrated more impaired levels of cognitive, neurodevelopmental and visual motor functioning. Most recently, magnetic resonance studies of children with fetal alcohol spectrum disorders demonstrated increased brain damage that correlated with more severe facial dysmorphology and more severe neurodevelopmental dysfunction.7,8 On the other hand, Mattson, et al.9 found that the degree of the severity of neurodevelopmental deficits evident in children with prenatal alcohol exposure is independent of the physical features associated with FAS. Further investigation of the connection between physical and imaging findings and the severity of dysfunction is necessary; however, accurate results depend upon a clear and consistent diagnostic schema across the fetal alcohol spectrum.
A recent study compared neurodevelopmental functioning among children with fetal alcohol syndrome (FAS), pFAS (partial fetal alcohol syndrome) and alcohol-related neurodevelopmental disorder (ARND).10 Clinical criteria for placement in each of the diagnostic groups included confirmed prenatal exposure to alcohol, documentation of all three criteria for facial dysmorphology, and past or current growth impairment (height or weight) below the third percentile. In addition, in order to meet criteria for abnormal central nervous system functioning, children had to have a head circumference below the third percentile, evidence of global cognitive functioning below the third percentile, and/or three domains of neurodevelopmental functioning greater than two standard deviations below the normed mean, to ensure that children were not misclassified. It should be noted that this paper relied on third percentile rather than tenth percentile cut-off for definition of growth impairment and microcephaly, as opposed to the recommendations from the Centers for Disease Control and Prevention (CDC)11 and the Institute of Medicine (IOM)12 which rely on the tenth percentile as the defining cutoff.
The children who met tightly-defined physical criteria for a diagnosis of FAS were significantly different neurodevelopmentally from alcohol-exposed children who did not meet all criteria, while children with pFAS and ARND were similar in all neurodevelopmental domains that were tested. Children with FAS exhibited the most impaired level of general intelligence, significantly-worse language-based memory, and significantly-poorer functional communication skills. All three groups of alcohol-affected children demonstrated executive functioning deficits, but the FAS group of children performed significantly worse on sequencing and shift tasks than either the pFAS or ARND groups. Similar to previous studies of behaviour in children with FASD,8-10,13-15 there was a high rate of diagnosis of Attention Deficit Hyperactivity Disorder (ADHD) in each of the three groups: 60% of children with FAS, 88.9% of children with pFAS, and 76.9% of children with ARND met DSM-IV criteria for a diagnosis of ADHD.
In her paper, Dr. Astley1 makes a strong case for clear and precise measurement and classification of children with prenatal alcohol exposure. However, although the 4-digit code16 is well suited for use in specialty clinics and research programs, the reality is that most practitioners find it cumbersome when using it in the field. O’Brien and Mattson’s paper2 is a case in point. The authors use the term “FASD” to review the literature on neurobehavioural profiles, since most studies do not differentiate what specific diagnostic groups within the fetal alcohol spectrum the various studies are examining.
Streissguth and her colleagues17,18 defined the primary disabilities of FAS as those directly related to intrauterine alcohol toxicity. The notion of secondary disabilities was used to “encompass the measurable difficulties that people with FAS/FAE (fetal alcohol effects) face as they mature….”13 In a four-year study of secondary disabilities, the researchers found that over 90% of the subjects had mental health problems.18
However, opinions regarding the etiology of mental health disorders in alcohol-exposed children vary widely. O’Connor et al19,20 suggested that the high proportion of children with mood disorders was due to the damage sustained by the basal ganglia and cerebellum. On the other hand, O’Connor et al.21,22 also posited that in addition to a genetic predisposition for depression and difficult temperaments that are a result of their prenatal exposure to alcohol, the development of optimal relationships between mother and child are impeded by the mothers’ alcohol use and mood disorder. The role of out-of-home placement in increasing alcohol-exposed children’s risk for mental health disorders23 raises another confounding factor, since most research has documented an increased prevalence of psychopathology among children in the foster care system.24-26
A new study by our group27 examines the prevalence of mental health disorders among children with FAS and ARND in out-of-home placement as compared to a similar group of children who had no prenatal exposure to alcohol. Not surprisingly, the rates of mental health disorders in both groups of children were markedly higher than rates found in the general population of children in the United States. The prevalence of mental health disorders among children in the alcohol-exposed cohort were similar to those rates found in previous studies of alcohol-exposed children.18-23 ADHD was the most common mental health disorder, occurring in almost 75% of the alcohol-exposed group, significantly higher than the 58% rate found among the non-exposed group. The study found only 19% of the alcohol-exposed children met criteria for a mood disorder, a rate similar to that of Fryer et al. (18%),23 while the rate of mood disorders was significantly higher among the non-exposed children in our sample (37.5%).
In examining the relative contributions of factors related to prenatal alcohol exposure as opposed to child welfare factors related to being in out-of-home placement, logistic regressions revealed that children with a history of physical or sexual abuse, regardless of prenatal alcohol exposure history, had the highest rates of anxiety disorders, and environmental factors, such as number of placements and length of time in the current placement, were more predictive of mood disorder than the biological toxicity of alcohol exposure. Much further research is needed in this arena, especially work that includes appropriate comparison groups that can help differentiate biological and environmental factors that explain mental health disorders in children with prenatal alcohol exposure.
Policy Recommendations and Implications
There is a great deal of ongoing discussion and controversy regarding the diagnostic criteria for FAS, pFAS, ARND and other components across the fetal alcohol spectrum. The IOM12 guidelines, as clarified by Hoyme,28 utilize a cutoff for abnormal growth as the tenth percentile, require only two of three facial abnormalities, and are nonspecific as to central nervous system functioning. Current recommendations regarding facial criteria from the CDC11 are more stringent than those of the IOM but set the threshold for abnormal CNS functioning only at greater than 1 standard deviation below the mean in three domains. In addition, thresholds for growth impairment (weight, height, head circumference) are set by the CDC at only the tenth percentile.
Based on current knowledge, I would recommend that the term pFAS be eliminated and alcohol-exposed children be diagnosed as having FAS or ARND. Confirmation of prenatal alcohol exposure should be required in all cases. Growth retardation should be defined as current or past weight and/or height less than the third percentile, rather than the tenth percentile. A finding of facial dysmorphology should require abnormal measurements of the upper lip (rank 4 or 5) and the philtrum (rank 4 or 5) and shortened palpebral fissures greater than two standard deviations below the mean.6,29 This is consistent with the CDC’s11 and Astley’s6-8,30 recommendations, but more stringent than the guidelines issued by the IOM.12 To qualify as having evidence of central nervous system abnormalities, the child’s current head circumference should be below the third percentile for age and gender rather than the tenth percentile as currently recommended, and/or the child should demonstrate functional deficits of global cognitive delays with performance below the third percentile on standardized testing or three or more domains of neurodevelopmental functioning more than two standard deviations below the normed mean on standardized measures of cognitive, executive, memory, adaptive, motor, attentional, social skills, or sensory functioning.
Children with documented prenatal alcohol exposure who meet all physical criteria for growth impairment and facial dysmorphology as well as neurodevelopmental deficits would be assigned a diagnosis of FAS. Children with documented prenatal alcohol exposure who do not meet all growth and/or facial criteria but who meet criteria for neurodevelopmental deficits would be classified as ARND. Utilizing two diagnoses – FAS and ARND – with strict criteria delineated for all to follow would create a common language and diagnostic schema that would be suitable in the clinical setting while establishing a consistency with ongoing research. This would be invaluable in further work to determine the neurobehavioural profile for the two groups.
Given the lack of clear evidence regarding the relationship between prenatal alcohol exposure and mental health problems, I would suggest we use more precise terminology and speak of mental health disorders that co-occur in children with FAS and ARND. Labeling mental health disabilities as “secondary” implies a more direct cause and effect association than can be documented through current research. Rather, the correlation is more likely the result of environmental factors that act on the biologically vulnerable brain of the child with FASD. From a policy perspective, eliminating the use of the term “secondary disabilities” would stress the importance of early identification and intervention for alcohol-exposed children at risk for abuse and neglect and the need to support and enhance the stability of the children’s placements whether they be in the biologic home or in out of home placement. This, in turn, would perhaps decrease the rates of mental health disorders in this population of high-risk children.
- Astley S. Clinical assessment of individuals with fetal alcohol spectrum disorders (FASD). O’Connor MJ, topic ed. In: Tremblay RE, Boivin M, Peters RDeV, Barr RG, eds. Encyclopedia on Early Childhood Development [online]. Montreal, Quebec: Centre of Excellence for Early Childhood Development; 2011:1-9. Available at: http://www.child-encyclopedia.com/documents/AstleyANGxp1.pdf. Accessed March 17, 2011.
- O’Brien J, Mattson SN. Neurobehavioural profiles of individuals with fetal alcohol spectrum disorders. O’Connor MJ, topic ed. In: Tremblay RE, Boivin M, Peters RDeV, Barr RG, eds. Encyclopedia on Early Childhood Development [online]. Montreal, Quebec: Centre of Excellence for Early Childhood Development; 2011:1-8. Available at: http://www.child-encyclopedia.com/documents/OBrien-MattsonANGxp1.pdf. Accessed March 17, 2011.
- O’Connor MJ. A Socioemotional functioning of individuals with fetal alcohol spectrum disorders. O’Connor MJ, topic ed. In: Tremblay RE, Boivin M, Peters RDeV, Barr RG, eds. Encyclopedia on Early Childhood Development [online]. Montreal, Quebec: Centre of Excellence for Early Childhood Development; 2011:1-8. Available at: http://www.child-encyclopedia.com/documents/OConnorMANGxp1.pdf. Accessed March 17, 2011.
- Jones K, Smith DW. Recognition of the fetal alcohol syndrome in early infancy. Lancet. 1973;ii:999-1201.
- Bertrand J, Floyd RL, Weber MK. Guidelines for identifying and referring persons with fetal alcohol syndrome. MMWR. 2005;54:1-15.
- Astley SJ, Clarren SK. Measuring the facial phenotype of individuals with prenatal alcohol exposure: correlations with brain dysfunction. Alcohol & Alcoholism. 2001;36:147-159.
- Astley SJ, Aylward EH, Olson HC, et al. Magnetic resonance imaging outcomes from a comprehensive magnetic resonance study of children with fetal alcohol spectrum disorders. Alcoholism: Clinical and Experimental Research. 2009;33:1671-1689.
- Astley SJ, Olson HC, Kerns K, et al. Neuropsychological and behavioral outcomes from a comprehensive magnetic resonance study of children with fetal alcohol spectrum disorders. Canadian Journal of Clinical Pharmacology. 2009;16:e178-e201.
- Mattson SN, Riley EP, Graming L, et al. Neuropsychological comparison of alcohol-exposed children with or without physical features of fetal alcohol syndrome. Neuropsychology. 1998;12:146-153.
- Chasnoff IJ, Wells AM, Telford E, Schmidt C, Messer G. Neurodevelopmental functioning children with FAS, pFAS, and ARND. Journal of Developmental and Behavioral Pediatrics. 2010;31:192-201.
- National Task Force on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention. Fetal Alcohol Syndrome: Guidelines for Referral and Diagnosis. Washington, DC: US Department of Health and Human Services; 2004.
- Stratton KR, Howe CJ, Battaglia FC, eds. Fetal Alcohol Syndrome: Diagnosis, Epidemiology, Prevention, and Treatment. Washington, DC: National Academy Press; 1996.
- Connor PD, Sampson PD, Bookstein FL, et al. Direct and indirect effects of prenatal alcohol damage on executive function. Developmental Neuropsychology. 2000;18: 331-354.
- Kodituwakku PW, May PA, Clericuzio CL, et al. Emotion-related learning in individuals prenatally exposed to alcohol: An investigation of the relation between set shifting, extinction of responses, and behavior. Neuropsychologia. 2001;39:699-708.
- Kodituwakku PW. Defining the behavioral phenotype in children with fetal alcohol spectrum disorders: a review. Neuroscience & Biobehavioral Reviews. 2007;31:192-201.
- Astley SJ. Diagnostic Guide for Fetal Alcohol Spectrum Disorders: The 4-Digit Diagnostic Code. 3rd ed. Seattle WA: University of Washington Publication Services; 2004.
- Streissguth, A. P. Fetal alcohol syndrome: A guide for families and communities. Baltimore, Maryland: Paul H. Brooks Publishing Company, 1997.
- Streissguth, A. P., Barr, H.M., Kogan, J., & Bookstein, F.L. Understanding the occurrence of secondary disabilities in clients with fetal alcohol syndrome (FAS) and fetal alcohol effects (FAE): Final report to the Centers for Disease Control and Prevention on Grant No. RO4/CCR008515 (Tech Report No. 96-06). Seattle: University of Washington, Fetal Alcohol and Drug Unit, 1996.
- O’Connor, M. J., Shah, B., Whaley, S., Cronin, P., Gunderson, B., & Graham, J. Psychiatric illness in a clinical sample of children with prenatal alcohol exposure. The American Journal of Drug and Alcohol Abuse. 2002; 28: 743-754.
- O’Connor, M. J. & Kasari, C. Prenatal alcohol exposure and depressive features in children. Alcoholism: Clinical and Experimental Research. 2000; 24: 1084-1092.
- O’Connor, M.J. Prenatal alcohol exposure and infant negative affect as precursors of depressive features in children. Infant Mental Health Journal, Special Issue 2001; 22: 291-299.
- O’Connor, M.J., & Paley, B. The relationship of prenatal alcohol exposure and the postnatal environment to child depressive symptoms. Journal of Pediatric Psychology. 2006; 31: 50-64.
- Fryer, S. L., McGee, C.L., Matt, G. E., Riley, E. P, & Mattson, S, N. Evaluation of psychopathological conditions in children with heavy prenatal alcohol exposure. Pediatrics 2007; 119: 733-741.
- Shin, S. H. Need for and actual use of mental health service by adolescents in the child welfare system. Children and Youth Services Review 2005; 27: 1071-1083.
- Viner, R. & Taylor, B. Adult health and social outcomes of children who have been in public care: Population-based study. Pediatrics 2005; 115, 894-899.
- Burns, B. J., Phillips, S. D., Wagner, H .R., Barth, R. P., Kolko, D. J., Cambell, Y., & Landsverk, J. Mental health need and access to mental health services by youth involved with child welfare: A national survey. Journal of the American Academy of Child and Adolescent Psychiatry 2004; 43: 960-970.
- Wells AM, Chasnoff IJ, Bailey GW, Jandasek B, Telford E, Schmidt C. Mental Health Disorders Among Foster and Adopted Children with FAS and ARND. Illinois Child Welfare Journal. In press.
- Hoyme HE, May PA, Kalberg WO, et al. A practical clinical approach to diagnosis of fetal alcohol spectrum disorders: clarification of the 1996 Institute of Medicine criteria. Pediatrics. 2005;115:39-47.
- Famy, C., Streissguth, A.P., & Unis, A.S. Mental illness in adults with fetal alcohol syndrome or fetal alcohol effects. American Journal of Psychiatry 1998; 155: 552-554.
- Astley SJ, Clarren SK. Diagnosing the full spectrum of fetal alcohol-exposed individuals: introducing the 4-digit diagnostic code. Alcohol & Alcoholism. 2000;35:400-412.
How to cite this article:
Chasnoff IJ. Children Prenatally Exposed to Alcohol: Comments on Astley, O’Brien and Mattson, and O’Connor. In: Tremblay RE, Boivin M, Peters RDeV, eds. O’Connor MJ, topic ed. Encyclopedia on Early Childhood Development [online]. https://www.child-encyclopedia.com/fetal-alcohol-spectrum-disorders-fasd/according-experts/children-prenatally-exposed-alcohol-comments. Published: March 2011. Accessed 20 January 2022.Text copied to the clipboard ✓