Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The clinical picture of the Schimmelpenning-Feuerstein-Mims (or nevus sebaceus linearis) syndrome is described. The syndrome especially its excessive formes, is a relatively rare, but typical biotype of the neuroectodermal phakomatosis disorders. Symptomes are multiple widespread linear sebaceus nevi, seizures and mental retardation, ECG anomalies and ocular dysplasia and dystrophia, which can cause blindness.
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PMID:[Schimmelpenning-Feuerstein-Mims-syndrome (author's transl)]. 11 1

There is increasing recognition that autism is a syndrome, not a disease entity. But it is not yet clear why some children develop autistic behavior more easily than others. It has been noted that autistic symptoms occur more frequently in children with mental retardation, blindness, congenital rubella, phenylketonuria, etc., and that there are very few cases of classical infantile autism in the general population. Very rarely has autism been associated with Down's syndrome. This is a report of a case of Down's syndrome and infantile autism.
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PMID:A case of infantile autism associated with Down's syndrome. 15 85

The Norrie syndrome, an x-chromosomal linked, recessive genetic disease, is described using ophthalmologic and genetic examinations of a family in three generations. The main symptom of this syndrome is retinal detachment with hemorrhages, which generally leads to blindness in early childhood. In addition to this, in 25--35% of the cases mental retardation and hearing problems are found. Special significance is to be attached to the differential diagnosis of this syndrome because the vascular proliferation on the retina is a non-specific, secondary reaction in children, which also occurs symptomatically in several other diseases.
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PMID:[Norrie syndrome (author's transl)]. 41 93

The eyes of 1 466 children (88.3% of the total) who were admitted to the Centre for premature babies and the neonatal intensive care unit at Rennes between 1973-1975 were re-examined at the age of 2 years. There were 839 premature and 226 term babies whose weight was appropriate for gestational age, and 74 premature and 327 term babies who were small for dates. 95 (6.5%) had eye disorders at the age of 2. Abnormalities were more common in infants with a Birth weight of less than 1 500 g and in those with a gestional age of less than 28-30 weeks. Boys were more commonly affected than girls. 38% of the children with eye disorders had other problems of which the commonest was mental retardation (75%). There was no relation between perinatal complication and the incidence of eye disorders. The most common abnormality was squint (94%) but other problems were major (blindness, cataracts, retrolental fibroplasia). 37% of the abnormalities had not been diagnosed until found in the survey at the age of 2 years.
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PMID:[Ophthalmologic evaluation at the age of 2 years of newborn infants hospitalized in the neonatology center at Rennes]. 53 46

A longitudinal study was conducted of 243 children with congenital rubella. In this sample a high rate of autism and a high rate of recovery were observed. Examination of the data suggested that the rubella virus was the primary etiologic agent. It is hypothesized that the course of autism was that of a chronic infection in which recovery, chronicity, improvement, worsening, and delayed appearance of the autistic syndrome all were found. Other rubella consequences such as blindness, deafness, and cardiac and neuromuscular defects remained present except as modified by operations and prostheses. Degree of mental retardation initially was related to the outcome of autism but shifts in mental retardation over time did not correlate significantly for the group with shift in the autistic symptoms.
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PMID:Follow-up report on autism in congenital rubella. 57 6

Of the 20 patients given rifampicin and isoniazid, 19 survived and one died. Twelve patients recovered from the disease without any significant neurologic defect. Seven patients had moderate to severe handicaps which included hemiparesis in four, hydrocephalus in two,mental retardation in three, and blindness in one. There was no hearing deficit. The average hospital stay in this group was 3-1/2 weeks. Among the 13 patients given streptomycin, PAS, and isoniazid, four are dead. Only three patients recovered with a completely good condition. The remainder had either single or multiple neurologic defects. The moderate degree of nerve deafness was also observed in two patients.
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PMID:Evaluation of rifampicin in the treatment of tuberculous meningitis in children. 118 10

Norrie disease is a human X-linked recessive disorder of unknown etiology characterized by congenital blindness, sensory neural deafness and mental retardation. This disease gene was previously linked to the DXS7 (L1.28) locus and the MAO genes in band Xp11.3. We report here fine physical mapping of the obligate region containing the Norrie disease gene (NDP) defined by a recombination and by the smallest submicroscopic chromosomal deletion associated with Norrie disease identified to date. Analysis, using in addition two overlapping YAC clones from this region, allowed orientation of the MAOA and MAOB genes in a 5'-3'-3'-5' configuration. A recombination event between a (GT)n polymorphism in intron 2 of the MAOB gene and the NDP locus, in a family previously reported to have a recombination between DXS7 and NDP, delineates a flanking marker telomeric to this disease gene. An anonymous DNA probe, dc12, present in one of the YACs and in a patient with a submicroscopic deletion which includes MAOA and MAOB but not L1.28, serves as a flanking marker centromeric to the disease gene. An Alu-PCR fragment from the right arm of the MAO YAC (YMAO.AluR) is not deleted in this patient and also delineates the centromeric extent of the obligate disease region. The apparent order of these loci is telomere ... DXS7-MAOA-MAOB-NDP-dc12-YMAO.AluR ... centromere. Together these data define the obligate region containing the NDP gene to a chromosomal segment less than 150 kb.
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PMID:The Norrie disease gene maps to a 150 kb region on chromosome Xp11.3. 130 Nov 61

Hunger and malnutrition in Africa have been on the increase since the 1960s. During the 1970s, it is estimated that 30 million people were directly affected by famine and malnutrition. About 5 million children died in 1984 alone. In Mozambique during the 1983-84 famine, about 100,000 people perished. In Ethiopia, Sudan, Somalia, Liberia, and Angola armed conflicts compound the problem. Ethiopia alone had 9 million famine victims in 1983. The most common form of malnutrition in Africa is protein energy deficiency affecting over 100 million people, especially 30-50 million children under 5 years of age. Almost another 200 million are at risk. Iron deficiency, commonly called anemia, also affects 150 million people, mostly women and children. Iodine deficiency leads to disorders like mental retardation, cretinism, deafness, abortion, low resistance to disease, and goiter and this affects 60 million with about 150 million more at risk. Vitamin A deficiency causes blindness and low resistance to disease and affects about 10 million. Protein energy deficiency is treated by using donated foods in hospitals, rehabilitation centers, day care centers, and feeding centers. There are no community programs for anemia, or vitamin A or iodine deficiencies. Vaccines for preventing and drugs for treating diseases that cause malnutrition are imported. Therefore, African food and nutrition professionals met in 1988 and created the Africa Council for Food and Nutrition Sciences (AFRONUS) to eliminate famine and malnutrition in Africa. Activities have started in: 1) developing contacts between the workers in food and nutrition; 2) assessing the situation of food and nutrition in Africa; 3) developing an action plan; 4) implementing the plan; and 5) monitoring progress. Food and Nutrition Policy Guidelines have also been prepared by AFRONUS for food and nutrition workers. Africa has enough natural resources to solve the problem of hunger and malnutrition, but these resources have to be harnessed.
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PMID:Hunger and malnutrition: the determinant of development: the case for Africa and its food and nutrition workers. 139 7

The prevalence of legal blindness in 10-year-olds in metropolitan Atlanta was 6.8 per 10,000 during 1985 to 1987. The prevalence was 8.8 per 10,000 in Black boys, 8.6 per 10,000 in White boys, 6.7 per 10,000 in White girls, and 1.8 per 10,000 in Black girls. Retinopathy of prematurity was the most common known cause (1.0 per 10,000). Of the 61 cases, 40 had other disabilities, including 14 with mental retardation, cerebral palsy, and epilepsy. The low prevalence among Black girls and the frequent occurrence of blindness with other disabilities are noteworthy.
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PMID:Legal blindness among 10-year-old children in Metropolitan Atlanta: prevalence, 1985 to 1987. 141 64

Toxoplasmosis is usually asymptomatic in pregnant women but poses a risk of severe effects on the fetus. One to eight of every 1,000 pregnant women become infected, and the infection is transmitted to the fetus in approximately 40 percent of these cases. The risk of transmission rises with increasing gestational age at the time of initial infection. Congenital infection with toxoplasmosis may lead to serious sequelae, such as blindness, mental retardation, neurologic deficits and deafness. Prevention of morbidity from toxoplasmosis depends on prevention of the infection in pregnant women, plus early recognition and aggressive treatment of maternal infections.
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PMID:Toxoplasmosis in pregnancy: an emerging concern for family physicians. 155 44


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