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

A combined preventive scheme was conducted in four hospitals in Guangzhou to lower the rate of kernicterus and mental retardation caused by related neonatal jaundice due to G6PD deficiency. Observation was focused on 330 G6PD deficient infants, and the effects were measured according to the incidence of hyperbilirubinemia and kernicterus. The results, as compared to those of a retrospective study, showed that the incidence of hyperbilirubinemia was significantly decreased (51.4% to 21.2%), and neither kernicterus nor mental retardation infant was found in this series (12.5% in the control group). The authors conclude that this combined scheme is extremely effective and can be used in any large population area in which there is a high gene frequency of G6PD deficiency.
 ...
PMID:[Clinical study on the prevention of kernicterus caused by hereditary glucose-6-phosphate dehydrogenase deficiency]. 133 14

The significance of cerebrospinal fluid (CSF) bilirubin levels on the outcome of neonatal jaundice has been investigated by correlations between kernicterus or brain damage and CSF bilirubin levels (Torii 1974, 1981, Meisels 1984), This study is designed to clarify the significance of CSF bilirubin levels in the long-term prognosis of neonatal hyperbilirubinemia. Sixteen full-term newborn babies with hyperbilirubinemia (serum bilirubin level 20.0-30.0 mg/dl) who did not receive phototherapy because of low bilirubin in their spinal fluid (usually under 0.5 mg/dl in normal neonates) were followed in this study of growth, intelligence and neurobehavior. The subjects' neurobehavior was compared with that of a matched control group. The physical growth of the children with a history of hyperbilirubinemia was within normal limits except for one girl whose weight was less than-2 SD from the average. Verbal IQ's were lower than performance IQ's in 10 out of 14 children with a history of hyperbilirubinemia. However, no mental retardation was noted. No significant difference was found between the two groups in mean positive scores on the Garfield test. In the Prechtl test, mean score of the finger-touching test was significantly higher in the children with a history of hyperbilirubinemia than in the control group. The soft sign coefficient and the occurrence of attention deficit hyperactivity disorder were not significantly different in the two groups. In summary, a low bilirubin level (less than 0.5 mg/dl) in the spinal fluid seems to be a good prognostic sign in infants with neonatal bilirubinemia.
 ...
PMID:[Long-term follow-up of neonatal hyperbilirubinemia when phototherapy was withheld because of low bilirubin levels in the spinal fluid--growth, intelligence and soft neurological signs in school children]. 176 Jan 98

Over two years cord blood from 27 879 babies was screened for glucose-6-phosphate dehydrogenase (G6PD) deficiency. The overall incidence was 3.1% in boys and 1.6% in girls. Sixty nine babies had severe jaundice (bilirubin concentration greater than 380 mmol/l (20 mg/100 ml], and exchange transfusion was performed. Parents were given written and verbal instructions to avoid herbs and drugs that trigger kernicterus, which reduced the incidence of kernicterus and thereby prevented mental retardation. G6PD deficiency is common in all three ethnic groups (Malays, Chinese, and Indians) in Malaysia and screening is recommended.
 ...
PMID:Glucose-6-phosphate dehydrogenase deficiency: a preventable cause of mental retardation. 308 Jan 88

A 9-year-old Indian boy was found to have an aneurysm of the left internal carotid artery. The vessel was heavily atherosclerosed, and the distal segment of the artery was tortuous and dilated. Serum lipid estimations showed the presence of type IIB hyperlipoproteinemia, with evidence of the disease in the patient's identical twin sibling and 37-year-old father. There was also a marginal increase in serum triglycerides in a 4-year-old younger brother. The patient's 29-year-old mother was unaffected. The patient had suffered hemolytic disease as a newborn, which resulted in kernicterus and subsequent mental retardation. This incident is considered to have been the result of a proven glucose-6-phosphate dehydrogenase deficiency. The aneurysm was resected and arterial continuity was ensured by using an end-to-end anastomosis. Post-operative blood flow studies showed normal flow patterns in the reconstituted artery. Postoperatively, the patient's mental performance increased dramatically; it is hypothesized that such progress is the consequence of an improvement in the blood supply to the limbic system, following the operative procedure.
 ...
PMID:Internal carotid artery aneurysm: a singular anomaly. 638 12

We examined the clinical picture of eight patients with severe intellectual and motor disabilities, who had experienced prolonged and severe neonatal jaundice, and showed localized lesions in the globus pallidus, subthalamic nuclei and hippocampus on MRI. All patients had athetoid tetraplegia, and five patients showed disturbed ocular movements and seven showed dysphagia. Five patients could communicate with others or utter words, and all showed mental retardation. Auditory brainstem responses were abnormal in seven, and the percentage of REM sleep on all-night polysomnography was reduced in three. Neither CT nor T1-weighted MR images could detect any changes in the pallidum or subthalamic nuclei, while T2-weighted MR images disclosed bilateral high signals in the pallidum, especially in the internal segment, in all patients. Five of the 7 patients, in whom coronal T2-weighted MR imagings were obtained, showed high signals in the subthalamic nuclei. The hippocampus showed atrophy and/or T2-prolongation in seven patients. In one autopsy case, these MRI changes were concordant with pathological lesions. In patients with athetoid cerebral palsy, brainstem dysfunctions, and abnormal ABR, localization of MRI lesions to the pallidum and subthalamic nuclei is evidence for neonatal bilirubin encephalopathy.
 ...
PMID:[Localized lesions on MRI in the globus pallidus, subthalamic nuclei and hippocampus in patients with severe intellectual and motor disabilities]. 939 98

In this case report a near-term infant with Glucose 6-Phosphate Dehydrogenase (G6-PD) deficiency had an unconjugated bilirubin level of 703 on the 11th day of life but maintained his haemoglobin levels above 11 gm/dl. At 4 months of age he demonstrated the clinical picture of Kernicterus: profound sensorineural deafness and evidence of encephalopathy. However, by 15 months of age his abnormal cerebral and motor signs had regressed to a near-normal level in parallel with a gradual improvement in hearing, which also reached normal levels, first in the right ear, then in the left. At this age residual mental retardation has not been excluded but his communication skills, though delayed by 4-6 months, were moving towards the level when they would be appropriate for his age.
 ...
PMID:Glucose 6-phosphate dehydrogenase deficiency with kernicterus: progressive late recovery from profound deafness. 957 22

Kernicterus is a preventable life-long neurologic syndrome caused by severe and untreated hyperbilirubinemia during the neonatal period. High levels of bilirubin are toxic to the developing newborn. In full-term infants, hyperbilirubinemia symptoms include severe jaundice, lethargy, and poorfeeding. Features of kernicterus may include choreoathetoid cerebral palsy, mental retardation, sensorineural hearing loss, and gaze paresis. Kernicterus is not a reportable condition in the United States, and its prevalence is unknown; however, a pilot registry at a Pennsylvania hospital documented 90 cases in 21 states from 1984 to June 2001 (L. Johnson, Pennsylvania Hospital, Philadelphia, personal communication, 2001). This report summarizes case histories of four full-term, healthy infants who developed kernicterus and underscores that to prevent kernicterus, newborns must be screened and promptly treated for hyperbilirubinemia.
 ...
PMID:Kernicterus in full-term infants--United States, 1994-1998. 1142 29

Kernicterus (bilirubin encephalopathy) is a disease entity with a very high rate of mortality in neonates. The children who survive are left with neurological deficits such as choreoathetosis, sensorineural deafness and mental retardation. Magnetic resonance imaging of the brain in this condition has specific findings which aid in the accurate diagnosis of the condition, along with clinical and biochemical criteria. Reports have shown involvement of the globus pallidus, putamen, and less commonly the thalamus. More specific involvement may be isolated lesions of the globus pallidus. Magnetic resonance imaging has shown a good sensitivity in this condition.
 ...
PMID:MRI in kernicterus. 1258 Oct 55

Estimates of the incidence of mental retardation vary from 1 to 3 per cent of the population. Prevention of this disability requires different methods, depending on the cause. Retarded persons are of four broad categories: Those who are the low end of the normal distribution curve of intelligence in the general population, without any specific illness or defect; those in whom retardation is culturally and socially determined; those who are functionally retarded due to emotional disorder; and those with damage of the brain structure. More flexibility is required within our relatively complex society so that dull people can adapt themselves, achieve acceptance, and find a vocation within their range of ability. There is need for improved services for the early diagnosis and treatment of emotional disturbances in children, and for counselling with parents of slow learning children to make the family climate as favorable as possible. Certain diseases which cause organic defects in the brain are now sufficiently well understood to make possible the prevention of mental retardation in persons with these diseases-cretinism and congenital syphilis among them. More recently, an increasing emphasis on the preventive approach to mental retardation has been made possible through our understanding of the effects of German measles in early pregnancy, knowledge of such metabolic errors as phenylketonuria and galactosemia, of kernicterus caused by Rh incompatibility between mother and child, as well as by our increased knowledge of human genetics.
 ...
PMID:Preventive aspects of mental retardation. 1362 54

In presenting the neuropathology of asphyxia neonatorum and some related conditions, as illustrated in experiments with monkeys (12), I have tried to make six principal points. (i) Newborn monkeys need not be asphyxiated to the point of terminal apnea to suffer structural brain damage. Mental retardation has not been proved, but neither has it been excluded, in these monkeys. (ii) Asphyxia neonatorum requiring resuscitation of the offspring, which otherwise would die, is associated with a remarkably constant syndrome of bilaterally symmetrical, nonhemorrhagic lesions in thalamic and brain-stem nuclei, mainly those of afferent systems. The individuals in this category clearly are retarded. (iii) Asphyxia neonatorum of this second degree may be associated with postpartum complications leading to neocortical atrophy, often of considerable magnitude. The individuals are markedly retarded, often palsied, epileptic, and in a few instances even comatose. (iv) Increased intrauterine pressure in the monkey during prolonged labor leads to fetal and postpartum depression, in connection with which cerebral cortical injury occurs in the absence of typical asphyxial lesions. (v) The relationship of cerebral hemorrhages to mental retardation is not clear, but their presence at autopsy probably signifies trauma during birth, or is an agonal artifact associated with death after postpartum depression. (vi) Finally, kernicterus, a condition in which bile pigment escapes into the brain tissues from the blood when the bilirubin level is high and when there is, in combination with it, some depressing factor such as asphyxia, has been produced in the newborn monkey. It, too, is associated with mental retardation.
 ...
PMID:Neuropathology of certain forms of mental retardation. 1400 Nov 40


1 2 Next >>