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ABSTRACT: 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.
Addiction Biology 07/1999; 4(3):329-36. · 4.83 Impact Factor
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ABSTRACT: 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.
To identify and quantify the maternal risk factors and neonatal characteristics of children with FAS.
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.
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.
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.
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.
Journal of Perinatal Medicine 02/1998; 26(4):263-9. · 1.70 Impact Factor
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ABSTRACT: 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.
American Journal of Medical Genetics 12/1991; 41(2):212-5.
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ABSTRACT: 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.
American journal of mental retardation: AJMR 04/1991; 95(5):596-601. · 2.51 Impact Factor
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ABSTRACT: 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.
American Journal of Medical Genetics 04/1991; 38(4):565-8.
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ABSTRACT: 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.
American Journal of Medical Genetics 06/1990; 36(1):33-6.
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ABSTRACT: 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.
Physiology & Behavior 08/1989; 46(1):39-43. · 2.87 Impact Factor
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ABSTRACT: 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.
Clinical Genetics 06/1988; 33(5):356-9. · 3.13 Impact Factor
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ABSTRACT: 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.
Annales de Génétique 02/1988; 31(3):172-4.
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ABSTRACT: 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.
Clinical Genetics 07/1987; 31(6):366-9. · 3.13 Impact Factor
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Journal of Developmental & Behavioral Pediatrics 11/1985; 6(5):322. · 2.13 Impact Factor
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Journal of Autism and Developmental Disorders 10/1985; 15(3):351-2. · 3.34 Impact Factor
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Journal of Developmental & Behavioral Pediatrics 09/1984; 5(4):201-3. · 2.13 Impact Factor
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ABSTRACT: 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.
American Journal of Medical Genetics 03/1983; 14(2):347-51.
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ABSTRACT: A patient with multiple congenital malformations and developmental delay is reported. Her karyotype is 46,XX,del(3)(q23q25).
Annales de Génétique 02/1983; 26(2):98-9.
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Rehabilitation literature 46(9-10):255-8.
