Prevention of mental retardation in offspring of hyperphenylalaninemic mothers.

Maternal hyperphenylalaninemia constitutes a potential hazard to the fetus for whom the risks of postnatal mental retardation, microcephaly, and congenital malformations are elevated. Preconception and intragestational dietary treatment can apparently improve the outcome of such pregnancies. In the absence of predictive mechanisms for pregnancies at risk and preventive measures involving reproductive counseling and treatment, there could be a rebound in the population frequency of mental retardation related to disorders of phenylalanine metabolism in subsequent generations. We describe a program serving a population of six million that includes screening, diagnosis, treatment, and counseling of the hyperphenylalaninemias. The program has recently added a simple dedicated register for males and females with hyperphenylalaninemia to supplement traditional methods for continuous surveillance of probands. We registered 153 patients: 43 females and 56 males with phenylketonuria, 23 females and 31 males with benign hyperphenylalaninemia, of which 22, 7, 27 and 5, respectively, had reached their 12th birthday in an 1981. Regional centers in the program provided counseling about the consequences of maternal hyperphenylalaninemia and the options to prevent them. No family has rejected the principle or fact of the Register and its goals.     

Variation in the influence of selected sociodemographic risk factors for mental retardation.

OBJECTIVES. This study explored the utility of subdividing mental retardation into groups based on the presence of other neurological conditions. METHODS. Data were abstracted from birth certificates as part of a case-control study of mental retardation among 10-year-old children. The study sample included 458 case children and 563 control children selected from public schools. Case children were subdivided on the basis of intelligence quotient (IQ) score and the presence of other neurological conditions. RESULTS. Other neurological conditions were more common with severe mental retardation than with mild mental retardation. Regardless of IQ level or the presence of other neurological conditions, boys were more likely than girls to have mental retardation. Older mothers were more likely than younger mothers to have a child with mental retardation accompanied by another neurological condition. High birth order, Black race, and low maternal education were associated with a higher prevalence of isolated mental retardation. CONCLUSIONS. These findings suggest that sociodemographic risk factors for mental retardation vary according to the presence of other neurological conditions and that subdivisions based on medical or physical criteria may be useful in epidemiologic studies of mental retardation.     

Ethical aspects of sexuality of persons with mental retardation

Current trends towards normalization of the disabled provide opportunities especially for mentally retarded adolescents to enjoy satisfying sexual experiences. However, the right of mentally disabled persons to their own sexuality has become an emotionally discussed topic among professionals and lay people because of concerns about unwanted pregnancies, venereal diseases and sexual exploitation. The key ethical issue is the acceptance of the human rights of personal inviolability, self determination in marrying and founding a family and voluntary procreation of mentally disabled persons in respect to prevailing parent-family and parent-citizen models. It is argued that in discussing ethical aspects of the sexuality of mentally disabled persons standards of consistency should be upheld by applying principles fundamental to modern ethics.     

Prevention of mental retardation: knowledge and perception by health professionals

This article aimed to evaluate the prevention of mental disability in primary healthcare services in Maringá, Paraná, Brazil. The sample consisted of 90 male and female physicians from different fields, namely gynecology and obstetrics, pediatrics, general practice, and family health, as well as 66 male and female nurses. A multiple-choice questionnaire was filled out by the subjects themselves from August to December 2003. Qualitative variables were compared using the chi-square test at 5% significance level. Partial data relating to both the perception and knowledge of health professionals concerning mental disability were as follows: 75% were unable to choose the correct alternative on prevalence; 25% did not know how the genome contributes to etiology; 37% were unaware of prevention for mental disability; 28% were not confident in providing orientation on the teratogenic effect of ethanol; 35% demonstrated insecurity in orienting patients on amniocentesis. The data showed that participants had an unsatisfactory perception of the relevance of mental disability within the overall population disease profile, and that they need more information on the respective genetic and environmental issues.     

From gene to disease; fragile X-syndrome: hereditary mental retardation due to a developmental gene

The fragile X syndrome is the most common cause of familial intellectual disability. The identification of the 'fragile-X mental retardation' (FMR1) gene disclosed a novel genetic mechanism: an intergenerational instable cytosine-guanine-guanine (CGG) repeat leading to the absence of FMR1 protein above a threshold of 200 repeats and, subsequently, leading to familial mental retardation.     

Evaluation of a family planning program for individuals with mental retardation

An evaluation was conducted to answer the question: Can a specially designed program for women with mental retardation increase the use of birth control methods? Results indicate there was a significant shift to permanent birth control for the treatment group, from 42.5 percent at baseline to 68.0 percent after one year. The results suggest that an intensive, individually designed prevention program can reduce the occurence of unwanted pregnancies for women with mental retardation.     

Evaluation of a cardiovascular health program for participants with mental retardation and normal learners.

An evaluation was conducted to compare the impact of an 8-week cardiovascular disease risk reduction group teaching program for 92 individuals with mental retardation (MR; IQ less than 70) and 97 normal learners. The curriculum emphasized exercise, nutritional choices, and stress reduction. Body Mass Index (BMI; weight in kilograms, divided by height in meters, squared), knowledge of healthy eating choices, self-report of fruit and vegetable intake, and exercise were measured before and after the intervention. The mean BMI decreased by .89 for normal learners and not at all for the group with MR. However, BMI decreased by at least .75 units (or approximately 5 pounds) for 18.5% of individuals with MR and 44.3% of normal learners.     

Age of walking and mental retardation.

The age of independent walking was noted for 200 retarded children aged 30-60 months living in the community. The onset of walking tended to be later in more severely retarded children, but early walkers were found even among the most retarded. The majority of children with mild, moderate, and severe retardation walked by 17 months. Only in the group which was profoundly retarded did the majority begin to walk after 17 months. Onset of walking before 17 months is usual in retarded children and is compatible with all levels of mental retardation.     

0～14岁智力低下儿童病因形成危险因素的护理措施

目的 研究"治未病"思想对防控0～14岁智力低下(Mental Retardation,MR)儿童病因形成危险因素的护理.方法 使用丹佛发育筛查测验及Gesell发育诊断量表进行智力筛查和诊断,进行logistic、Cox回归模型分析.结果 产后致病因素为63.58%,产前因素为27.78%,产时因素为8.64%.染色体异常是MR形成主要因素,产伤是城市MR形成的主要因素,产后窒息是农村MR形成的主要因素.母亲文化水平低、近亲结婚、家庭收入低、居住在农村是MR发生的影响因素.母孕期受精神刺激、家族中有五类残疾、出生窒息、出生低体质量、在婴幼儿期患过癫痫、脑病等使MR发生风险增高.结论 从"未病养生"思想出发开展生殖健康教育;从"欲病救萌"思想出发开展遗传护理干预;从"已病早治"思想出发重视妇幼保健服务;从"瘥后调摄"思想出发建设救治康复体系.