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)

Visual impairment (corrected visual acuity in the best eye < 0.3) was evaluated in a retrospective study of 296 children born between 1976 and 1985 and recruited from three French departments. For children younger than 9 years, the overall prevalence was 0.80 per 1000 and that of blindness was 0.28 per 1000. No decrease in prevalence was noted over this decade. The most common aetiologies were antenatal factors (48%), which were observed mainly in the cases of poor vision, and perinatal factors (27%), which were more common in the cases of blindness. Fifty-six per cent of the children had an additional severe handicap. The most common association was with motor impairment and mental retardation. The mean age of first medical care (3.1 years) did not change over the decade: 2.0 years for children with an associated handicap, 2.9 years for cases of isolated blindness and 5.1 years for cases of isolated poor vision. Among children with isolated visual impairment, there was a significantly higher percentage of scholastic underachievers in those presenting after the age of 5 years (39.3% vs. 14.6%).
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PMID:Visual impairment in children: prevalence, aetiology and care, 1976-85. 962 May 71

Regular ophthalmic surveillance started in 1982 for all surviving prematures in Frederiksborg County considered at risk of developing retinopathy of prematurity (ROP). During 1982-1984 185 infants of gestational age 25-35 weeks at delivery were examined; blindness eventually appeared in four out of the 28 who showed some stage of ROP. All 28 attended ophthalmic reassessment at age 7-10 years and were compared with 60 of the same cohort without evidence of ROP. At follow-up (n = 88) there was evidence of psychomotor disturbances in 45 children, manifesting as major CNS damage in 21, and minor in 24. With correction for drop-outs the regional frequency of severe CNS damage (mainly cerebral palsy and mental retardation) was 29.6% for gestational ages < 32 weeks at delivery and 24% as calculated for birth weights < 1500 g. An analysis of perinatal factors based mainly on matched pairs did not indicate any definite association with subsequent damage to eye or brain, and statistically there was no association between severity of ROP and CNS impairment. We have no explanation for the high frequency of CNS impairment at follow-up.
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PMID:[Brain damage in relation to occurrence of retinopathy of prematurity. A regional ophthalmologic follow up of premature infants born 1982-1984]. 964 Oct 57

Preterm birth is the leading preventable cause of neonatal morbidity. Evidence shows that common genitourinary infections, which can easily be treated, cause large numbers of babies to be born prematurely. Because of their biologically immature organs, these newborns require intensive neonatal care, which leads to excess hospital costs early in life (approximately $3000/day at the University of Colorado). Long term, these children require follow-up for a range of disabling conditions, such as cerebral palsy, mental retardation, blindness, and/or deafness. Inexpensive screening during pregnancy can detect such common infections as bacterial vaginosis, trichomoniasis, chlamydia, and urinary tract infection; prompt treatment of these infections can effectively reduce admissions for preterm labor evaluation and can lower preterm birth rates. Bacterial vaginosis, in particular, has been consistently associated with a significantly increased risk of preterm births. Selective use of antibiotics in women during preterm labor and premature rupture of membranes significantly reduces both preterm birth rates and the risk of complications--in particular, from group B streptococcus (GBS) infection--in both babies and mothers. Implementation of appropriate screening and treatment of bacterial vaginosis and other prevalent infections can dramatically reduce the excess morbidity and mortality of infants "born too soon" because of reproductive tract infection.
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PMID:Preterm Birth: The Role of Infection and Inflammation. 974

Shaken baby syndrome is a serious form of physical child abuse, which is frequently overlooked. It should be suspected in all children younger than one year of age, who present with drowsiness, coma, seizures or apnoea. A combination of subdural haematomas and retinal haemorrhages with minimal or no trauma and no coagulopathy is almost pathognomonic of the syndrome. The findings are caused by shaking with or without impact. Physical signs of violence are often absent and the syndrome may easily be mistaken for serious infection or seizure disorder. Many cases are fatal or lead to severe disability including blindness, cerebral palsy, mental retardation or epilepsy in about 60% of the children. There are many unresolved problems regarding diagnosis, pathophysiology, treatment, prognosis, prophylaxis and legal actions. We discuss these problems and in addition present eleven children with shaken baby syndrome.
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PMID:[Shaken baby syndrome]. 982 79

Norrie disease (ND) is a severe form of congenital blindness accompanied by mental retardation and/or deafness in at least one third of the patients. This article summarizes advances in the molecular genetic analysis of this disease during the last 13 years, including mapping and cloning of the human gene and the generation and characterization of a mouse model. Genetic linkage studies and physical mapping strategies have assigned the ND locus to the proximal short arm of the human X chromosome. The identification of chromosomal rearrangements in several patients, such as microdeletions, enabled the isolation of the ND gene by a positional cloning approach. Numerous point mutations in this gene have been identified in three distinct clinical entities: (1) ND, (2) familial and sporadic exudative vitreoretinopathy, and (3) retinopathy of prematurity. The gene encodes a relatively small protein, consisting of 133 amino acids. The function of the gene product is yet unknown, although homologies with known proteins and molecular modelling data suggest a role in the regulation of cell interaction or differentiation processes. A mouse model has been generated to shed more light on early pathogenic events involved in ND and allelic disorders. The mouse homologous protein is highly identical (94%) to the human polypeptide. The gene is expressed in the neuronal layers of the mouse retina, the cerebellum and olfactory epithelium. Mutant mice show snowflake-like opacities within the vitreous, dysgenesis of the ganglion cell layer and occasionally degeneration of photoreceptor cells. The mouse phenotype does not include phthisis bulbi and, overall, resembles a mild form of ND. Electrophysiological studies revealed a severely altered electroretinogram b-wave. These results suggest a primary defect in the inner neuronal layers of the retina. Defects in the vitreous and photoreceptor cell layer are most likely secondary effects. Further histological, functional and molecular studies of the mouse model are needed to provide additional information on disease associated pathways.
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PMID:Molecular dissection of Norrie disease. 983 55

We report on a family with an X linked neurodegenerative disorder consisting of mental retardation, blindness, convulsions, spasticity, and early death. Neuropathological examination showed mild hypomyelination. By linkage analysis, the underlying genetic defect could be assigned to the pericentromeric region of the X chromosome with a maximum lod score of 3.30 at theta=0.0 for the DXS1204 locus with DXS337 and PGK1P1 as flanking markers.
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PMID:A new X linked neurodegenerative syndrome with mental retardation, blindness, convulsions, spasticity, mild hypomyelination, and early death maps to the pericentromeric region. 1005 Oct 14

A case of familial Bardet-Biedl syndrome (BBS) in a 64-year-old woman is presented; it is characterized by abdominal obesity (BMI: 38.28; WHR: 0.98), slight mental retardation, polydactyly, pigmentary retinopathy and moderate renal failure, with insulin-resistant diabetes mellitus and severe inflammation of the left limb with necrosis of the last toe (the sixth) of the left foot. Four brothers and sisters of the patient presented the same syndrome. The patient had had healthy offsprings. The review of current literature indicates that BBS is a genetic autosomal recessive disease, formerly grouped with Laurence-Moon-Biedl syndrome but today considered as a separate entity. It is characterized by obesity, mental retardation, dysphormic extremities (syndactyly, brachydactyly or polydactyly), retinal dystrophy or pigmentary retinopathy, hypogonadism in males, and renal structural abnormalities or functional impairment. Extra- and intrafamilial variability of expressivity and severity of the various clinical manifestations was reported, among affected families and also in the same family. BBS is a rare but important syndrome, that should be known by the endocrinologist and the specialist in internal medicine, because it has an adverse prognosis, with early onset of blindness, insulin-resistant diabetes mellitus and severe renal impairment. Renal failure is a frequent cause of death early in life, even in the infant-juvenile years.
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PMID:[A case of familial Bardet-Biedl syndrome (obesity, slight mental retardation, polydactyly, retinitis pigmentosum and renal failure) with insulin-resistant diabetes mellitus]. 1006 26

Physical fitness testing and programs should address such basic elements as body composition, aerobic power, and strength. Current trends that encourage a sedentary lifestyle among adolescents (from entertainment to cutbacks in government physical education programs) must also be considered, with particular attention to populations suffering from chronic illness and disability, such as mental retardation, blindness, motor disabilities, and extreme obesity.
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PMID:Adolescent Fitness. 1035 88

We report on a 16-year-old girl with tetrasomy 9p mosaicism. Clinical investigations disclosed a malformation syndrome with craniofacial abnormalities, dysplasia of the right clavicle, short neck with cervical ribs, patella dislocation, Dandy-Walker malformation, mental retardation and blindness. Karyotype analysis of blood lymphocytes indicated an additional marker in the size of a C-group chromosome with a large heterochromatic block in 88% of the investigated metaphases. The origin and structure of this additional marker could not be determined by chromosome banding. Application of fluorescence in situ hybridisation and comparative genomic hybridisation identified the origin of the marker chromosome, demonstrating the effectiveness of molecular-cytogenetic investigations in the diagnosis of structural and numerical chromosome abnormalities.
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PMID:Mosaic tetrasomy 9p in a girl with multiple congenital anomalies: cytogenetic and molecular-cytogenetic studies. 1041 17

Norrie disease is a rare X-linked recessive neurodevelopmental disorder. The affected males manifest congenital blindness, which is often associated with hearing loss, mental retardation and psychiatric problems. Genetic linkage studies have localized the gene to the short arm of the X-chromosome and the gene has been isolated recently. The encoded protein is a member of the superfamily of growth factors containing a cystine knot motif and may be involved in cell adhesion and neurodevelopment. Molecular genetic analysis revealed a large number of missense, nonsense, deletion, and splice-site mutations among Norrie patients. In order to further determine the role of the Norrie disease gene, we studied the distribution pattern of its mRNA in the retina and in brain by in situ hybridization. The results show abundant hybridization signals in outer nuclear, inner nuclear, and ganglion cell layers of the retina in all three species (mice, rabbit, and human) examined. There was no significant expression in the vitreous body, lens, and rod outer segment. High expression levels were also observed in the cerebellar granular layer, hippocampus, olfactory bulb, cortex, and epithelium of the rabbit brain. These data suggest that the Norrie disease gene could play a critical role in the differentiation or maintenance of the differentiated state of the retina.
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PMID:Localization of the Norrie disease gene mRNA by in situ hybridization. 1045 56


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