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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. [ABSTRACT FROM AUTHOR]

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., (Copyright © 2010 Elsevier Inc. All rights reserved.)

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.

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.

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.

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.

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.

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.

Fetal alcohol syndrome (FAS) is an important cause of mental retardation and developmental disabilities. A population based screening tool would allow for early diagnosis and entry into intervention programs. The aim of the study was to develop a brief screening tool for use in population-based settings to improve the identification of children with FAS. The FAS Screen was developed and tested in six sites. These were sites that served children and all were located in North Dakota. Screening was completed on 1013 children, 65 were found to have a positive screening score and were referred for further investigation. Forty were seen for evaluation by a medical geneticist and six were diagnosed with FAS. The estimated values for the screening tool were: specificity 94.1%, sensitivity 100%, positive predictive value 9.1% and negative predictive value 100%. The cost of screening was $13.00 per child and the cost per case identified was $4,100. The FAS Screen is a brief screening test with acceptable performance characteristics and is cost effective.

Unlabelled: Alcohol is the most common identifiable teratogenic cause of mental retardation in North America. Fetal Alcohol Syndrome (FAS) is a major public health problem, which is frequently under diagnosed by physicians., Objective: To identify and quantify the maternal risk factors and neonatal characteristics of children with FAS., Design: A retrospective case-control study using birth certificate data of North Dakota children diagnosed with FAS. Five controls were selected for each patient. Controls were selected from the computerized birth registry and matched by gender, year and month of birth., Subjects and Setting: A list of all the children diagnosed with FAS from the North Dakota FAS Registry was sent to the State Health Department. We were able to locate the birth certificates for 132 (56%) of the 228 cases on the registry., Results: Of the 132 FAS cases, 106 (80.3%) were Native Americans and 24 (18.2%) were Caucasians. In this sample 51 (38.6%) of the cases were male and 81 (61.4%) were female. Statistically significant maternal characteristics at p < 0.01 were: older mother's age, lower education level, fewer months of prenatal care, fewer prenatal visits, lower gestational age at time of delivery and less prenatal weight gain. Significant neonatal differences at p < 0.01 were lower birth weight and Apgar scores and higher incidence of congenital malformations., Conclusion: FAS is a completely preventable developmental disability. Consumption of alcohol during pregnancy can result in lifelong physical and mental impairments on the fetus. All pregnant women should be screened for alcohol use during prenatal visits. Women with positive screens or at high risk should be identified early by the primary care physician and referred for treatment and counseling.

Pitt-Rogers-Danks syndrome (PRDS) is a rare, presumed autosomal recessive, syndrome with pre- and postnatal growth retardation, microcephaly, characteristic facial appearance, seizures, unusual palmar creases and developmental delay. Since the first description in 1984, only 7 cases have been reported. We report the identification of a 4p microdeletion in 2 new patients, who were previously diagnosed with PRDS, as well as the sibs in Pitt et al. [1984]. PRDS can no longer be considered autosomal recessive. Although our cases are attributable to a microdeletion in 4p16, it is uncertain if the critical region involves a single locus or multiple loci or to what extent this region overlaps with the critical region for Wolf-Hirschhorn syndrome.

In order to establish the incidence and prevalence of type I spinal muscular atrophy (SMA Werdnig-Hoffmann disease) in North Dakota, we reviewed the death certificates for the past 8 years. Between 1980 and 1987 the prevalence of was 1.5 per 10,000. The incidence was 1 in 6,720. This suggests a carrier frequency of 1 in 41 in North Dakota with a gene frequency of 0.0122. In North Dakota, type I spinal muscular atrophy appears to be 3 to 10 times more common than in other locations.

Service providers for children in the state of North Dakota were surveyed to determine the prevalence rate of Rett syndrome (RS). Five patients with definite RS were identified in a population of 203,801 children (98,932 girls) 0-18 years of age yielding a prevalence rate of RS of 1 in 40,760 in North Dakota children. For girls the rate of RS is 1 in 19,786. Similar surveys of other states using comparable modes of ascertainment will be important as points of comparison for prevalence rates of RS.

Institutionalized adults with mental retardation (N = 297) were surveyed to determine the prevalence of symptoms of Rett syndrome. No symptom of the syndrome occurred more frequently in males than females. When symptoms were analyzed in clusters (e.g., severe mental retardation, no prenatal complications, walked before 15 months, and wide-based gait), no single cluster of symptoms appeared to differentiate males from females. However, as individuals, only females were found to meet the necessary criteria for a diagnosis of Rett syndrome. Symptoms were seen with equal frequency in this population and no one or two symptoms differentiated patients with and without Rett syndrome.

An institution for the mentally retarded was surveyed to determine the prevalence rate of Rett syndrome (RS). Four patients with definite RS and one with probable RS were identified in a population of 350, yielding a prevalence rate of 1 in 87, about 1% of institutionalized male and female patients with mental retardation. In this population of patients with severe and profound mental retardation (N = 297), 138 females were surveyed, suggesting a prevalence rate among females of 1 in 34 in an institutional population of persons with mental retardation. Surveys of institutions for persons with mental retardation may be an effective method to identify adults with RS.

Wolf syndrome has been recognized since the mid-sixties. It has also been postulated that the loss of 4p16 is the primary reason for the syndrome. However, in a handful of cases the breakpoints have been identified, only a very few of which are exclusively 4p16. In this report we present familial transmission of 4p16 deletion (associated with 8pter----8p21 duplication) in three individuals with typical expression of Wolf syndrome. The transmission occurs from a de novo balanced maternal translocation, 46,XX,t(4;8)(p16;p21). An effort has also been made to distinguish the terminal deletion syndrome from the emerging interstitial deletion syndrome of 4p.

Duplication of 6q24 leads to 6qter was identified by GTG banding in an infant girl whose father was a balanced translocation carrier 46,XY,t(3;6)(p26 leads to q2402). At birth and at 4 mo she had proportionate short stature, microcephaly, asymmetric micrognathia, bow-shaped upper vermilion, long upper lip, submucous cleft palate, antimongoloid slant of palpebral fissures, telecanthus, prominent eyes, short neck with anterior and lateral webbing, short sternum, overlapping toes, wrist contractures, and hypertonicity. Later she was noted to have psychomotor retardation. Eleven previously published cases and our patient suggest that duplication of 6q (involving at least 6q25 leads to 6qter) produces a highly characteristic syndrome.

This paper describes two families in which four boys and two girls were affected with geroderma osteodysplastica. The major features of this syndrome include a droopy, jowly, prematurely aged appearance that has been likened by previous authors to the dwarfs in Walt Disney's 'Snow White.' Also, their skin lacks normal elastic recoil. The bones are osteoporotic and susceptible to fractures, particularly the vertebrae, which show compression with anterior wedging and biconcavity. The findings in the present families are compared with those in the originally reported family. There was a high degree of consanguinity between the parents in both of the present families and the previous hypothesis of X-linked inheritance is questioned.

The diagnostic criteria for Fetal Alcohol Syndrome (FAS) are reviewed and the authors suggest a new diagnostic schema to allow for a more adequate description of the range of FAS. FAS is also reviewed by topic area. Associated problems believed to be caused by maternal alcohol ingestion are discussed.

A patient with multiple congenital malformations and developmental delay is reported. Her karyotype is 46,XX,del(3)(q23q25).

Two severely mentally retarded brothers are described who had a similar facial appearance, cataracts, short stature, minor digital abnormalities, and primary hypogonadism. Their parents were first cousins. Numerous laboratory investigations failed to elucidate a basic metabolic cause for their disorder.

A patient with a de novo duplication of 17p is described. A comparison with five other published cases indicates several features in common that seem characteristic of the syndrome. Primary features include, low birth weight, small size, severe mental and motor retardation, heart defect, failure to thrive and peculiar facial traits. The prominent facial features are, a tendency for round and flat mid face, small palpebral fissures, hypertelorism, microcephaly and low set prominent ears.

Partial trisomy 6p with duplications ranging from 6p21 to 6p25-pter is emerging as an established syndrome. We report a case of duplication of 6p (6p23-pter) and deletion of 2q37-qter. Features characteristic of 6p partial trisomy present in the patient are low birthweight, and mental and developmental retardation. Major facial features include prominent forehead, flat occiput, multiple ocular abnormalities, low-set ears, prominent nasal bridge, long philtrum and small pointed mouth. Repeated examinations of the patient from birth to the age of over 5 years revealed that he has infantile autism. Since autistic children are generally not associated with chromosome anomalies, in view of the present case, it is suggested that karyotypic analysis be considered for such children. Where possible, extended study for autism in 6p trisomic children may also be desirable.