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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

This paper discusses the issues of deciding to have a child with mental retardation, and of terminating a pregnancy when the future child is known to have the same disability. I discuss these problems by criticizing a utilitarian argument, namely, that one should act in a way that results in less suffering and less limited opportunity in the world. My argument is that future parents ought to assume a strong responsibility towards the well-being of their prospective children when they decide to reproduce. The moral point in cases in which our acts affect the well-being of future children should be expressed strictly in terms of parents' culpability. Future children thus do not have current moral standing but presently living persons have current obligations to consider the presumable effects of their actions on future people. I will also argue that there are morally significant differences between 'selective contraception' and selective abortion.
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PMID:Is it wrong to deliberately conceive or give birth to a child with mental retardation? 1196 86

Mobius sequence/syndrome is a rare disorder characterized by congenital palsy of the 6th and 7th cranial nerves. Other cranial nerves may be affected, skeletal and orofacial anomalies and mental retardation occur. The aims were to determine the frequency of associated clinical characteristics and to identify any pregnancy or environmental factors in patients with Mobius sequence. A prospective study of 25 Swedes with apparent involvement of the 6th and 7th cranial nerves was performed and 25 patients, 1 month to 55 years old, were examined. Obvious associated systemic anomalies observed included: limb malformations (10), Poland anomaly (2), hypodontia (7), microglossia (6), cleft palate (4), hearing impairment (5) and external ear malformation (1). Pronounced functional abnormalities were observed involving facial expression (16), speech (13), eating and swallowing (12) and difficulty in sucking in infancy (11). Six patients had an autistic syndrome, one an autistic-like condition, and mental retardation was found in all these patients. No common aetiological cause was found but their mothers' pregnancy histories revealed a history of benzodiazepines (1), bleeding during pregnancy (8), spontaneous abortion (7) and chorion villus sampling in the second month of pregnancy (1). In conclusion, many patients had multiple problems with eating and communication resulting from facial palsy, cleft palate and tongue anomalies. Autism and mental retardation was diagnosed in one-third of the patients. Awareness of the wide spectrum of manifestations in Mobius sequence will assist in identification of the associated malformations and functional problems that are often seen and result in better care of the children.
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PMID:Mobius sequence--a Swedish multidiscipline study. 1199 54

Two healthy sisters with a familial history of mental retardation were referred to our centre for preimplantation genetic diagnosis (PGD). Their two brothers showed severe mental retardation. The molecular basis for their disorder could not be identified, but one of the sisters and the mother presented a highly skewed pattern of X-inactivation reinforcing the likelihood of an X-linked mode of inheritance. Both sisters requested PGD to avoid the abortion of potentially affected male fetuses. PGD for sex by fluorescent in-situ hybridization was carried out for the first sister and resulted in the birth of a female child. The second sister and her partner, whose niece had cystic fibrosis (CF), were tested for CF mutations, and were both found to be deltaF508 heterozygous. We developed an efficient single cell PCR protocol for the simultaneous amplification of the CF (deltadeltaF508) locus as well as the X-linked amelogenin gene and its highly homologous pseudogene on the Y chromosome. Two PGD cycles were carried out to screen against male and deltaF508 homozygous deleted embryos. In each case several embryos could be selected for transfer and the second cycle resulted in a twin pregnancy followed by the birth of two healthy female infants.
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PMID:Birth of healthy female twins after preimplantation genetic diagnosis of cystic fibrosis combined with gender determination. 1208 85

Pregnancy, delivery, and neonatal records of mentally defective chil dren born in Baltimore, Maryland, between 1935 and 1952 were compared wi th records of a control group to determine the effects of complications during these 3 phases on eventual mental disorders. The mental defectives had a greater amount of recorded complications of pregnancy and delivery, prematurity, and abnormal neonatal experiences. Nonmechanical pregnancy complications, i.e., bleeding or toxemia, seemed more significant in this association than the mechanical factors of delivery. Neither duration of labor nor operative procedures performed at delivery was related with the development of mental deficiency. The associations that did show were not as strong for nonwhites. Various reasons for this fact are considered. It seems possible that reproductive casualty can occur during pregnancy, delivery, and the neonatal period. In its most serious form, it causes spontaneous abortion, stillbirth, neonatal deaths. Lesser brain damage during these periods will cause, in the following order, cerebral palsy, epilepsy, mental retardation, and behavioral disorders.
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PMID:Association of maternal and fetal factors with development of mental deficiency. 1. Abnormalities in the prenatal and paranatal periods. 1225 79

Early identification and prevention of mental retardation helps in terms of treatment for some conditions, better planning and management of cases, and counseling. Diagnostic procedures are available during pregnancy for early detection: blood tests, amniocentesis, ultrasound, fetoscopy, and urine tests; tests available for the newborn are blood tests for hypothyroidism, PKU; urine tests for metabolic disorders; apgar scores for screening of neurological deficits; neurobehavioral assessments, developmental schedules; neurodevelopmental screening; sensory examination; speech and language assessments; EEG; and imaging techniques. Early identification of mental retardation is beneficial in aiding the child's development and personality and in helping parents adjust mentally and learning to cope with caring for the child. Sometimes, it can help to limit the number and extent of the handicap. Prevention can be primary, secondary, or tertiary. The emphasis is on planned pregnancies, regular prenatal care, regular health checkups for mother and child, immunization, nutrition, prevention of environmental hazards and accidents, early identification and screening, genetic studies and counseling, family planning, and creation of awareness among the general population. Inadequate prenatal care is associated with prematurity and low birth weight, which are linked to mental retardation. Prenatal care for the pregnant woman involves participating in regular prenatal checkups, maintaining good nutrition, having preliminary screening, attending promptly to illnesses and infections, and getting immunized at the appropriate time. Avoidance of the following is recommended: unnecessary and nonprescribed drugs, physical accidents, exposure to radiation and teratogens, alcohol and tobacco consumption, exposure to infections such as measles, rubella, or syphilis, toxins and poisons such as lead, and attempts at abortion. Genetic counseling can provide information on the disorders, the mode of inheritance, risks of recurrence, and options available as alternatives. Complicated pregnancies and labors require hospital delivery. Trained personnel at home or at a health center is appropriate for normal deliveries. High-risk infants need intensive care. The best age for mothers to bear children is between 20 and 30 years. The community can disseminate information as a prevention effort.
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PMID:Early identification and prevention of mental retardation. 1234 90

We report three generation family that includes two patients with severe mental retardation and additional anomalies who have been studied, clinically, cytogenetically, and molecular cytogenetically. A clinical diagnosis could not be made in the propositus, but facial anomalies of Down syndrome (DS) were recognized in the maternal uncle of the propositus. In view of a strong family history of recurrent miscarriage, a familial translocation was highly suggestive. Standard cytogenetic analysis did not reveal any abnormalities. Fluorescence in situ hybridization (FISH) using subtelomeric DNA probes identified a familial cryptic translocation of chromosomes 18 and 21, resulting in partial trisomy 21 and partial monosomy 18q in both patients. FISH analysis of obligate carriers demonstrated a balanced translocation between the terminal parts of 18q and 21q. Including this family, a total of six different familial cases with cryptic or subtle subtelomeric translocations of chromosome 21q has been reported, of which three involved terminal parts of chromosome 18q. The remarkable similarity of the chromosomal breakpoints of our patients and the described families prompted us to refine the breakpoints and to discuss phenotypic differences between these patients. Our results reinforce the role of cryptic subtelomeric rearrangements in patients with mental retardation associated with physical anomalies and stress the importance of FISH technology to supplement routine cytogenetics.
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PMID:Familial MCA/MR syndrome due to inherited submicroscopic translocation t(18;21)(q22.1q21.3) with breakpoint at the Down syndrome critical region. 1259 86

I argue that there is an important analogy between sex selection and selective abortion of fetuses diagnosed with Down syndrome. There are surprising parallels between the social construction of Down syndrome as a disability and the deeply entrenched institutionalization of sexual difference in many societies. Prevailing concepts of gender and mental retardation exert a powerful influence in constructing the sexual identities and life plans of people with Down syndrome, and also affect their families' lives.
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PMID:At home with Down syndrome and gender. 1468 39

Congenital toxoplasmosis may develop after maternal primary infection during pregnancy. The infection is usually asymptomatic in pregnant women but poses a risk of severe effects on the fetus. In Italy the incidence is about 6 per thousand. The infection is transmitted to the fetus in approximately 50 percent of such cases. The risk of transmission rises with growing gestational age at the time of primary infection; on the contrary, the seriousness of the effect on the fetuses becomes less active with more advanced pregnancies. Infants with congenital toxoplasmosis are mostly asymptomatic at birth but long-term studies have indicated that up to 85% of them will develop serious sequelae as severe impairment of vision, mental retardation and deafness during the months or the years after the birth. Preventing congenital toxoplasmosis is fundamental. All seronegative women should be encouraged to observe good dietary and general health regulations until delivery. Today the diagnosis in the mother is more reliable because of the improvements in serological techniques. Moreover, it is possible to identify infected fetuses by prenatal procedures such as ultrasonography, amniocentesis and cordocentesis, of which the last two consent to detect the parasite and/or specific antibodies. Recently a polymerase chain reaction (PCR) assay has been developed for the detection of Toxoplasma in the amniotic fluid. Adequate serological screening of pregnant and prenatal diagnosis can be helpful in reducing the incidence of congenital toxoplasmosis; furthermore abortion should be reserved only to cases with severe toxoplasmosis revealed by ultrasonography. Early recognition of pregnant infection and a specific treatment could reduce the parasitic colonization in the placenta by more than 60% and prevent infection in the fetus. If the fetal infection has already occurred, maternal treatment may modify the fetal disease. Spiramycin as immediate treatment of maternal primary infection is essential in preventing Toxoplasma transmission to the fetus. If the fetus results non-infected, spiramycin should be prolonged until delivery. If the fetus is infected, pyrimethamine-sulphadiazine combination should be given in repeated courses alternated with courses of spiramycin. However, there is an urgent need for more active and safer compounds; it would be useful to evaluate in the pregnant woman other potential therapeutic agents as atovaquone and azithromycin.
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PMID:[Toxoplasmosis in pregnancy: recent acquisitions and new prospects]. 1496 66

The incidence of chromosome anomalies in newborn infants is 0.7-0.8 %. The phenotypic manifestations of chromosomal abnormalities are highly diverse. These anomalies may be present in phenotypically normal individuals in whom they can increase the risk of recurrent miscarriage and birth defects and/or mental retardation. It is important to determine this risk to provide patients with appropriate genetic counseling.
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PMID:[Phenotypic consequences of chromosome abnormalities]. 1546 8

Rubella, also known as German measles, is usually a very mild infection that can have devastating effects in certain instances. It is a pleomorphic RNA virus in the Togaviridae family of the genus Rubivirus. It typically causes a scarletiniform rash, cervical lymphadenopathy, and mild constitutional symptoms, but in older children and adults, especially women, it may be more severe, with joint involvement and purpuric rash. Infection during the first 12 weeks of pregnancy results in congenital infection and/or miscarriage in 80-90% of cases. The congenital rubella syndrome (CRS) involves multiple organ systems and has a long period of active infection and virus shedding in the postnatal period. For these reasons, the rubella vaccine program was instituted in 1969, and the incidence of rubella infection in the United States has since declined by 99%. Rubella has been recognized as a disease for approximately 200 years, and it has since been found that humans are the only natural reservoir for the rubella virus. Virus is present in nasopharyngeal secretions, blood, feces, and urine during the clinical illness, although patients with subclinical disease are also infectious. The virus is spread via oral droplets and is shed in the nasopharynx for approximately 7 days before and after the rash is visible. CRS includes a configuration of anomalies, including nerve deafness, cataracts, cardiac anomalies (usually pulmonary artery and valvular stenosis, and patent ductus arteriosis), and mental retardation, with late complications including diabetes, thyroid disease, growth hormone deficiency, and progressive panencephalitis. In 1969, the first rubella vaccine was licensed for use, and the Centers for Disease Control and Prevention (CDC) began its National Congenital Rubella Syndrome Registry. As required under the National Childhood Injury Act, all healthcare providers in the United States who administer any vaccine shall, prior to administration of the vaccine, provide a copy of the Vaccine Information Statements (VIS) produced by the CDC to the parent or legal representative of any child to whom the provider intends to administer such vaccine, or to any adult to whom the provider intends to administer such vaccine. Despite efforts to vaccinate children, CRS continues to occur in the United States. Hispanic infants have an increased risk of CRS. HIV-1infected children with a preserved immune system and MMR immunization had a good response to rubella vaccine. In contrast, those in more advanced categories for HIV infection responded poorly. Issues of risk, choice, and chance are central to the controversy over the MMR vaccine that erupted in the UK in 1998, and has continued into the new millennium. An important contribution to the MMR controversy has come from the parents of autistic children, some of whom reject the notion that this disorder is a random genetic misfortune and insist that it is, at least in part, the result of some environmental insult, such as MMR vaccinations.
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PMID:Rubella and congenital rubella (German measles). 1602 42


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