Diagnosis of fetal alcohol spectrum disorders: a validity study of the fetal alcohol syndrome checklist.

Fetal alcohol spectrum disorders (FASD) are a common cause of developmental disability, birth defects, and mortality. The performance characteristics of current diagnostic tools for FASD are not adequately reported. This study examines the performance characteristics of the Fetal Alcohol Syndrome Diagnostic Checklist (FASDC). In a population of 658 subjects from North Dakota, we used the FASDC score to examine the agreement between FASDC score, clinical diagnosis, and the Institute of Medicine criteria for FASD. All subjects were seen for evaluation in the genetic/dysmorphology clinics, which are funded by the state to provide genetic diagnostic services for residents of North Dakota. We compared the clinical diagnosis and the FASDC scores to determine the performance characteristics of the FASDC in the categorical diagnosis of fetal alcohol spectrum (FAS), other-FASD, and a group with No-FASD. Comparisons were made using univariate and logistic models of outcomes using both the presence and the absence of alcohol exposure or FASDC phenotype data. The FASDC performance characteristics for differentiation of the FAS group from non-FASD were excellent (accuracy 99%, sensitivity 99%, and specificity 99%). Logistic models for subjects with scores in the FASD range were differentiated with an accuracy of 82%, sensitivity 85%, and specificity 80% using the data on phenotype and exposure. We were able to delineate subjects with scores in the No-FASD range with an accuracy of 78%, sensitivity 64%, and specificity 81% without including the exposure and phenotype data by use of the other descriptive data (maternal characteristics, birth records, and demographic data) from the FASDC. All diagnostic tools should have performance characteristics assessed and available before adoption for use in clinical settings. The FASDC scores produce diagnostic groupings that approximate expert clinical judgment. The tool may be useful in other clinical settings for the diagnosis of FASD or as an FASD registry or research database.

Mortality rates in subjects with fetal alcohol spectrum disorders and their siblings.

BACKGROUND: Our objective was to estimate the mortality rate in subjects with fetal alcohol spectrum disorders (FASD) and their siblings whose FASD status was unknown. METHODS: We used the state FASD Registry to link subjects with FASD to a North Dakota birth certificate. We were able to link 304 of 486 cases (63%). We used the birth certificates to identify the mother and children born to the mother (siblings). We then searched for death certificates for both the FASD cases and their siblings. We then calculated the annual and age-adjusted mortality rates for the siblings of the Registry cases and compared them with mortality rates from North Dakota. RESULTS: The FASD case mortality rate was 2.4%, with a 4.5% mortality rate for their sibings, accounting for 14% of all deaths when compared to the North Dakota residents matched by age and year of death. The sibling deaths accounted for 21.5% of all cause mortality matched by age and year of death. The age-standardized mortality ratios were 4.9 for the FASD cases and 2.6 for their siblings whose FASD status was unknown. CONCLUSIONS: Mortality rates for FASD cases and their siblings were increased and represent a substantial proportion of all cause mortality in North Dakota. Prevention of FASD may be a useful strategy to decrease mortality.

A staged screening strategy for prenatal alcohol exposure and maternal risk stratification.

AIMS: To present an incremental process for a staged screening strategy to identify women at increased risk of having a child with fetal alcohol spectrum disorder (FASD) and to enhance the management of women using alcohol during pregnancy. We include an illustrative example of the development of a screening component using an existing data set. METHODS: We describe a seven-step protocol to screen for alcohol use during pregnancy. The screening process begins with a one-question initial screen, followed by exposure assessment, maternal risk stratification to estimate risk for FASD, and concludes with recommendations for intervention and monitoring of exposure for women drinking during pregnancy. CONCLUSIONS: This screening process has very modest time commitments in the early stages. Time commitments increase for women drinking during pregnancy and the process focuses on the population at highest risk of having a child with FASD. The process has the benefit of risk specificity, since the process refines risk estimates for an adverse outcome specific for FASD. The process concludes with a programme to facilitate intervention and to monitor changes in prenatal alcohol exposure during pregnancy. Prevention of FASD is an important public health priority. In addition to the ongoing study of clinical strategies to improve detection rates of alcohol exposure at all stages of pregnancy, additional research on the tools and the process used in screening efforts is urgently needed. The efforts should also include research on both the screening tools and the outcome of the screening process in routine prenatal care settings.

Increased sibling mortality in children with fetal alcohol syndrome.

We compared the rate of all-cause mortality in siblings of children diagnosed with fetal alcohol syndrome (FAS) with the siblings of matched controls. The siblings of children with FAS had increased mortality (11.4%) compared with matched controls (2.0%), a 530% increase in mortality. The age of death in case siblings deaths occurred later (between 1 day and 7 years) compared with the controls (1 day to 4 years) [odds ratio (OR)=2.4 (0.4-15.6)]. Siblings of children with FAS had increased risk of death due to infectious illness [OR=13.7 (1.2-361)] and sudden infant death syndrome compared with controls [OR=10.2 (1.2-75.1)]. A diagnosis of FAS is an important risk marker for mortality in the siblings of the proband even if they do not have FAS. Maternal alcoholism appears to be a useful risk marker for increased mortality risk in diagnosed cases and their siblings. This has important implications in the management of family members of children with FAS.

A comparison of the effects of parental risk markers on pre- and perinatal variables in multiple patient cohorts with fetal alcohol syndrome, autism, Tourette syndrome, and sudden infant death syndrome: an enviromic analysis.

The prevalence and magnitude of effect of individual risk markers for specific developmental disorders vary widely across diagnostic category. The four study cohorts for this project were patients from four diagnostic registries in North Dakota for fetal alcohol syndrome (FAS), autism, sudden infant death syndrome (SIDS), and Tourette syndrome. These four cohorts were used to estimate prevalence and magnitude of effect of parental risk markers in patients with developmental disabilities. Cases with North Dakota birth certificates were matched with controls. Using birth certificate data, we then examined five parental risk markers for each cohort and estimated direct and indirect effects for each risk marker by cohort. The authors found two significant paternal risk markers (age in SIDS and education in FAS). Significant maternal markers were age in SIDS, education in FAS, autism, and SIDS. Marital status was a significant risk marker in FAS. Effect sizes were estimated using paired t tests, odds ratios, and population attributable risk (PAR) for both direct and indirect effects for each marker. We estimated both direct and indirect effects to allow for direct comparisons of the differential effect estimates of each of these markers. The direct effect of parental markers differs across diagnostic cohorts of patients. Use of cohorts from similar denominator populations obtained from prevalence studies is a useful methodological tool for estimating the prevalence and magnitude of effect of risk markers.

Body mass index in fetal alcohol syndrome.

INTRODUCTION: Prenatal alcohol exposure is an important cause of growth impairment. In this study we examined the stability of the growth measurements, including height, weight, and body mass index (BMI) percentiles, from birth to age at the time of diagnosis for subjects who were referred for evaluation to determine if they had fetal alcohol syndrome. METHODS: We utilized subjects from the North Dakota Fetal Alcohol Syndrome Registry. Each person referred for assessment was provided a standardized assessment completed by a medical geneticist. We also examined differences in the diagnostic schema from the Institute of Medicine. The population consisted of 315 subjects with paired weight measurements, 234 subjects with paired height measurements, and 322 subjects with current BMI measurements. RESULTS: Increases in weight percentiles and decreases in height percentiles were found. Children with FAS had consistently lower growth measurements. There was significant movement in and out of lower 5th and 10th percentiles by partial and no FAS children from birth to diagnosis. DISCUSSION: The requirement for growth impairment needs to be broad rather than narrow, if most subjects with a diagnosis of FAS and partial FAS/ARND are to be captured.

Recognition and management of fetal alcohol syndrome.

Fetal alcohol syndrome (FAS) is a common cause of developmental disability, neuropsychiatric impairment and birth defects. The disorder is identified by the presence of growth impairment, central nervous system dysfunction, and a characteristic pattern of craniofacial features. The reported prevalence of the disorder varies widely and recent estimates approach 1% of live births. Expression of these features varies by age. People with FAS have high rates of comorbid conditions: attention deficit hyperactivity disorder (40%), mental retardation (15-20%), learning disorders (25%), speech and language disorders (30%), sensory impairment (30%), cerebral palsy (4%), epilepsy (8-10%). Birth defects are common. In the United States, the annual birth cohort of persons with FAS could be as high as 39,000 cases annually. Cause-specific mortality is 6% for patients with FAS. The disorder is expensive to treat and most patients have lifelong impairment. The annual cost of care in the United States would approach US$5.0 billion. Early recognition and entry into appropriate treatment programs appear to improve outcome. Prevention efforts should involve screening for alcohol use prior to pregnancy and at the first prenatal care visit.

Diagnosis of FAS: a comparison of the Fetal Alcohol Syndrome Diagnostic Checklist and the Institute of Medicine Criteria for Fetal Alcohol Syndrome.

UNLABELLED: Fetal alcohol syndrome (FAS) is a common cause of neuropsychiatric disorders, growth impairment and craniofacial abnormalities. The syndrome may be more common than has been previously reported. Considerable controversy exists over the approaches for diagnosis of the syndrome. METHOD: In this study, we examined the rate of agreement for two diagnostic schema using 385 subjects that had been referred for assessment of possible FAS. Cases had initially been diagnosed using the Fetal Alcohol Syndrome Diagnostic Checklist (FASDC). We then reviewed the chart of each of the 385 subjects referred and assigned each subject to a category from the Institute of Medicine (IOM) Criteria or to a NOFAS category. We then compared the IOM categories with the FASDC. RESULTS: Rates of agreement with the IOM Criteria ranged from 59-71% using the FASDC. Poorest agreement was found in conjunction with partial FAS (PFAS)/alcohol-related neurodevelopmental disorder (ARND). Removal of exposure data from the scores greatly affected accuracy for the FASDC scores. DISCUSSION: The schema had only modest rates of agreement for classification of subjects with a diagnosis of FAS. This study does not determine if the diagnosis used in the development of the cohort was accurate. Further study utilizing multiple diagnostic schema in a single population will help examine the rates of diagnostic agreement between differing diagnostic schema. A valuable cohort to study would be the subjects in the CDC surveillance system. A perspective study utilizing a single cohort and applying multiple diagnostic criteria at the same time would be useful.

A school-based screening program for fetal alcohol syndrome.

Fetal alcohol syndrome (FAS) is a common cause of birth defects and neuropsychiatric impairment. Identification of affected people is crucial for early entry into intervention programs and for the development of prevalence estimates. The objective of this project was to determine if screening for FAS in a community elementary school-based setting was feasible, to estimate prevalence in the screened population, and to determine if a screening program for FAS can be implemented using available personnel from the community. The FAS Screen was used to screen kindergarten students enrolled in a school system. Students with scores on the FAS Screen above the cutoff for a positive screen (20) were referred to one of several diagnostic clinics for evaluation. Over a 9-year period, 1384 students were screened and 69 (5%) had a positive screen (20 or above). These 69 children were then seen in a genetics/dysmorphology diagnostic clinic and 7 (10%) were found to have FAS (n=6) or partial FAS (n=1). The prevalence of affected children (FAS and partial FAS) was 1 per 198 students or 4.3 per 1000. The FAS Screen was completed annually by school staff, teachers, social workers, and psychologists. The test has acceptable epidemiologic performance characteristics in a community setting. The screening takes about 8-10 min. The procedure was well accepted in the community. This screening strategy was inexpensive to implement (less than US8.00 dollars per student), and can be easily included with the other screens completed at kindergarten entry.

Prenatal alcohol exposure assessment: multiple embedded measures in a prenatal questionnaire.

Alcohol exposure during pregnancy is a well-recognized public health problem. Accurate assessment of prenatal alcohol exposure is especially important to identify women in need of intervention. In this study, a 36-item prenatal questionnaire was utilized to survey a representative sample of prenatal care providers to examine prevalence rates of exposure. The questionnaire included three common screening tools for alcohol use during pregnancy and the items necessary to establish a maternal risk profile. In North Dakota, 1081 pregnant women were included in the sample. Eighty (7.4%) were Native American and 952 (88%) were White. The TWEAK screening tool was positive for 253 (23.4%) of the women. Native American women had a 71% increase in positive TWEAK screenings compared to White women. Logistic regression was used to develop a high-risk model. The data from prenatal care can also be used for maternal risk stratification. Early identification can provide opportunity for early interventions to decrease total exposure during pregnancy and to improve the outcome for the child.

Fetal alcohol syndrome: neuropsychiatric phenomics.

Fetal alcohol syndrome (FAS) is a common developmental disorder with impairments in multiple neuropsychiatric spheres of varying severity. Few population-derived studies of the behavioral phenotype are available. The purpose of this study was to estimate the prevalence of neuropsychiatric disorders in three groups: subjects who met criteria for FAS (n=152); subjects who met criteria for partial FAS/ARND (n=150); and referred subjects who did not meet criteria for either FAS or partial FAS/ARND (n=86). Each subject had a standardized evaluation by a medical geneticist. All subjects were from North Dakota. We found increases in the prevalence rates of neuropsychiatric disorders in subjects with FAS compared to subjects with partial FAS/ARND and the lowest rates in the group that did not meet criteria for either FAS or partial FAS/ARND. Comorbid attention deficit hyperactivity disorder occurred in 73% of cases with FAS, in 72% cases with partial FAS/ARND, and in 36% subjects who did not meet criteria for either. For other neuropsychiatric disorders, a similar distribution of comorbidity was found. This study supports the concept of a continuum of impairment resulting from prenatal alcohol exposure. The presence of complex cognitive, behavioral, and physical symptomatology in the affected subjects with prenatal alcohol exposure would seem to fit well under the diagnostic rubric of fetal alcohol spectrum disorder (FASD). Diagnosis and long-term management will require increasing access to multidisciplinary child development teams including mental health professionals who treat children and adolescents. Adults will require care primarily from teams with expertise in mental health and developmental disabilities.