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Aase syndrome

Aase syndrome or Aase-Smith syndrome is a rare inherited disorder characterized by anemia with some joint and skeletal deformities. Aase syndrome is thought to be an autosomal dominant inherited disorder. The genetic basis of the disease is not known. The anemia is caused by underdevelopment of the bone marrow, which is where blood cells are formed. It is named after the American paediatricians Jon Morton Aase and David Weyhe Smith. more...

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Symptoms

  • Mildly slowed growth
  • Pale skin
  • Delayed closure of fontanelles (soft spots)
  • Narrow shoulders
  • Triple jointed thumbs, absent or small knuckles, decreased skin creases at finger joints
  • Inability to fully extend the joints from birth (congenital contractures)
  • Cleft palate
  • Deformed ears
  • Droopy eye lids

Signs and tests

  • A CBC (complete blood count) will show anemia and a decrease in the white blood cell count.
  • An echocardiogram may reveal heart defects (ventricular septal defect is most common).
  • X-rays will show skeletal abnormalities as described above.
  • A bone marrow biopsy may be performed.

Treatment

Frequent blood transfusions are given in the first year of life to treat anemia. Prednisone may be given, although this should be avoided in infancy because of side effects on growth and brain development. A bone marrow transplant may be necessary if other treatment fails.

Prognosis

Anemia usually resolves over the years.

Complications

  • Complications related to anemia include weakness, fatigue, and decreased oxygenation of the blood.
  • Decreased white blood cells alter the body's ability to fight infection.
  • If a heart defect exists, it may cause multiple complications (depending on the specific defect).
  • Severe cases have been associated with still birth or early death.

Prevention

As with most genetic diseases there is no way to prevent the entire disease. With prompt recognition and treatment of infections in childhood, the complications of low white blood cell counts may be limited.

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Prevalence and characteristics of alcohol consumption and fetal alcohol syndrome awareness - Alaska, 1991 and 1993 - Current Trends
From Morbidity and Mortality Weekly Report, 1/14/94 by D. Ingle

Fetal alcohol syndrome (FAS) is a leading preventable cause of birth defects and mental retardation in the United States (1). To reduce alcohol exposure to the developing fetus and to modify health-related behaviors, public health professionals and policy makers require effective methodologies to identify at-risk populations and develop strategies for preventing this problem. In Alaska, the prevalence of FAS is higher than the national average (2). Because of the need for information to assist in planning prevention programs, identifying training needs for service providers, and monitoring changes in factors related to FAS in target populations, the Alaska Department of Health and Social Services (ADHSS), the Indian Health Service (IHS), and CDC have conducted surveys to measure relevant knowledge, attitudes, beliefs, and behaviors (KABBs) in selected populations in Alaska. This report summarizes survey findings during 1991 and 1993 regarding the prevalence of alcohol consumption by and characteristics of women of childbearing age in Alaska and FAS-related KABBs in Alaska residents.

Alcohol Consumption Among Women of Childbearing Age

The prevalence of alcohol consumption among women aged 18-44 years in Alaska and characteristics of women who report consumption were obtained through the 1991 Behavioral Risk Factor Surveillance System (BRFSS), a random-digit-dialed telephone survey in which rural areas are oversampled (3,4). Respondents were grouped into three alcohol-consumption categories: nondrinker (no alcohol use reported during the previous month); light drinker (30 or fewer drinks consumed during the previous month and fewer than five drinks on any occasion); and heavy drinker (more than 30 drinks consumed during the previous month or five or more drinks on at least one occasion). Weighted prevalence estimates, prevalence ratios (PRs), and 95% confidence intervals (CIs) of drinking behavior were calculated for each alcohol-consumption category.

Of 519 respondents, alcohol-consumption patterns could be determined for 511 (98%). An estimated 45% (95% CI=38-51) were categorized as nondrinkers, 38% (95% CI=32-44) as light drinkers, and 17% (95% CI=12-22) as heavy drinkers. In addition, 22% had at least a college degree, 26% were current smokers, and 88% were non-American Indian/Alaskan Native (AI/AN).

Non-AI/AN women were more likely to report light drinking (41%) than AI/AN women (17%) (PR=2.4; 95% CI=1.6-3.8). The prevalence of heavy drinking among non-AI/AN women (15%) was half that among AI/AN women (32%) (PR=0.5; 95% CI=0.2-0.9).

Women who smoked were more likely to report heavy drinking (29%) than were nonsmokers (13%) (PR=2.2; 95% CI=1.2-3.9); smoking status was not associated with light drinking. ln addition, women with at least a college degree were less likely to report heavy drinking (6%) than were women with less education (20%) (PR=0.3; 95% CI=0.2-0.6). However, those with a college degree were more likely to report light drinking (53%) than were those with less education (34%) (PR=1.6; 95% CI=1.1-2.2).

Knowledge, Attitudes, Beliefs, and Behaviors About FAS Among Alaskan Adults

In March 1993, random-digit dialing was used to identify 400 adults (aged [equal or greater than] 18 years) who were interviewed by telephone to determine KABBs related to FAS. Of the 400 respondents, 239 (60%) were women. Knowledge of FAS was defined as correct answers to all seven true and false statements regarding FAS. False statements included "FAS is a disorder in adults caused by excessive drinking of alcohol," "A baby or child with FAS is impaired physically but not mentally," and "The effects of FAS lessen as the child gets older." Respondents also were asked how likely they would be to intervene if a friend or family member were pregnant and drinking alcohol on a regular basis.

Although most (365 [91%]) respondents had heard of FAS, only 164 (41%) met the criterion for being classified as knowledgeable about the syndrome. Of 117 respondents with a college degree, 71 (61%) were knowledgeable about FAS, compared with 91 (32%) of 283 respondents with less education (PR=1.9; 95% CI=1.5-2.4). In addition, of the 344 non-AI/AN respondents, 147 (43%) were knowledgeable, compared with 15 (27%) of 56 AI/ANs (PR=1.6; 95% CI=1.0-2.5).

The proportion of respondents classified as knowledgeable was higher among respondents who reported they were likely to discuss with a pregnant friend or relative who consumed alcohol the harmful effects of alcohol on the developing fetus (42%) than among those who indicated they would be unlikely to discuss the issue (14%) (PR=3.1; 95% CI=1.1-8.9). The percentage of adults who were knowledgeable about FAS did not vary significantly by sex, marital status, age, or the number of children in the household. Reported by: Dingle, P Owen, Alaska Div of Public Health, L Jones, S Perry, S Cassidy, Alaska Div of Alcoholism and Drug Abuse, JP Middaugh, MD, State Epidemiologist, Alaska Dept of Health and Social Svcs. Behavioral Risk Factor Surveillance Br, Office of Surveillance and Analysis, National Center for Chronic Disease Prevention and Health Promotion; Developmental Disabilities Br, Div of Birth Defects and Developmental Disabilities, National Center for Environmental Health, CDC.

Editorial Note: Among the 48 states participating in the 1991 BRFSS, Alaska ranks in the top quartile for heavy alcohol consumption. Based on 1990 census data for Alaska (5), the findings in this report indicate that in 1991, approximately 21,600 women aged 18-44 years in Alaska were heavy drinkers, some of whom, if they became pregnant and continued to drink, would be at risk for delivering an alcohol-affected infant. Such women should be identified and counseled through the health-care and social services system before they become pregnant. In addition, based on these findings, health-care and social service workers should ascertain the smoking status and educational levels of women as a means for identifying and targeting subgroups at risk for heavy drinking.

Knowledge of FAS may influence the drinking behavior of a woman during pregnancy and may increase the likelihood that a person will discuss with a pregnant friend or relative the harmful effects of drinking. However, the results of the KABBs survey indicate that less than half of adults in Alaska had knowledge about FAS. Because a high proportion of women of childbearing age in Alaska consume alcohol, public awareness campaigns to prevent FAS in Alaska should emphasize the dangers of drinking during pregnancy and the need to stop drinking before becoming pregnant.

Because persons without a post-high school education were the least knowledgeable about FAS and were characterized by a higher prevalence of heavy drinking, education programs about the dangers of drinking during pregnancy are indicated for school-aged children. The positive association between alcohol consumption and smoking indicates that FAS should be addressed within the context of a comprehensive health education program.

The findings in this report indicate that AI/AN women were more likely to report heavy drinking and to be less knowledgeable about FAS than non-AI/AN women. These findings are consistent with previous studies that documented high rates of FAS among AI/AN women (2,6). The consideration of race as a potential risk factor for FAS may assist in the identification of cultural factors that may be associated with drinking behavior and in the targeting of prevention efforts.

The findings in this report are subject to at least three limitations. First, because these data depend on self-reported alcohol use, the prevalence of alcohol consumption may be underestimated for some groups. Second, because both surveys were conducted by telephone and 28% of Alaska's rural population does not have telephones (7), the BRFSS and KABBs prevalence estimates may not be generalizable to all persons residing in Alaska. Third, alcohol consumption during the previous month may not be representative of usual drinking patterns.

The general population FAS-awareness survey and the BRFSS results are being used in Alaska to target future education campaigns on FAS and the harmful effects of drinking on the developing fetus to subgroups of the population at greatest risk for drinking. ADHSS, CDC, and IHS are conducting other KABBs surveys among healthcare and social services providers statewide to assess the extent to which the at-risk population is being counseled and to identify potential training needs for providers.

References

1. Abel E, Sokol RJ. Incidence of fetal alcohol syndrome and economic impact of FAS-related anomalies. Drug Alcohol Depend 1987;19:51-70.

2. CDC. Linking multiple data sources in fetal alcohol syndrome surveillance--Alaska. MMWR 1993;42:312-4.

3. Frazier EL, Franks AL, Sanderson LM. Behavioral risk factor data. In: CDC. Using chronic disease data: a handbook for public health practitioners. Atlanta: US Department of Health and Human Services, Public Health Service, CDC, 1992:4-1-4-17.

4. CDC. Behavioral risk factor surveillance system: operations manual. Atlanta: US Department of Health and Human Services, Public Health Service, CDC, 1990.

5. Department of Labor, State of Alaska. Alaska population overview: 1991 estimates. Juneau, Alaska: Department of Labor, July 1993.

6. May AM, Hymbaugh K J, Aase JM, Samet JM. Epidemiology of fetal alcohol syndrome among American Indians of the Southwest. Soc Biol 1983;30:374-87.

7. Bureau of the Census. Census of population and housing, 1990: summary tape file 2 [Machine-readable data tape]. Washington, DC: US Department of Commerce, Bureau of the Census, 1991.

COPYRIGHT 1994 U.S. Government Printing Office
COPYRIGHT 2004 Gale Group

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