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)

Although developmental disabilities are among the major chronic health problems affecting children in the United States, the contribution of developmental disabilities to childhood mortality is unknown. To investigate the magnitude of this contribution, multiple cause-of-death data were examined for US children, aged 1-19 years, for 1980 and 1983-1989. The following conditions were included as developmental disabilities: autism, attention deficit disorder, learning disorders, mental retardation, cerebral palsy, epilepsy, muscular dystrophy, blindness and deafness. Based on underlying cause only, it was found that developmental disabilities were the fifth leading cause of nontraumatic death for children between 1 and 14 years of age and the third leading cause of non-traumatic death for children between 15 and 19 years. When a multiple cause approach was used to define developmental disability-related deaths (i.e. when contributing as well as underlying cause was considered), the number of such deaths nearly doubled. On the basis of both underlying- and multiple-cause analyses, cerebral palsy was the developmental disability most frequently cited as a cause of death. Mental retardation ranked second according to the multiple-cause approach but only fourth according to the underlying-cause approach. The least frequent causes of death (autism, attention deficit disorder, learning disorders, blindness, and deafness) were the ones most likely to be coded as contributing rather than underlying causes. Developmental disability-related mortality rates were highest among children aged 1-4 and 15-19 years, highest among blacks and lowest among racial groups other than blacks and whites, and higher among males than females. Although results of multiple-cause-of-death analyses more accurately reflect the proportion of deaths related to developmental disabilities, even this approach may underestimate the degree to which mortality is associated with a developmental disability.
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PMID:Contribution of developmental disabilities to childhood mortality in the United States: a multiple-cause-of-death analysis. 753 59

An A to G transition at nucleotide 3,243 in the tRNA(Leu(UUR)) gene of mitochondrial DNA (mtDNA) has been suggested to be the disease-related mutation for MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes). Recently, the same mutation has also been found in several pedigrees with maternally inherited diabetes mellitus and sensorineural deafness. We report here a family showing the association of deafness and diabetes mellitus, as the predominant clinical features, with this mutation. The mutation was detected by restriction-enzyme analysis of the relevant PCR-amplified segment of the mtDNA, in two generations. In this family, it is noteworthy that two members with the mutation had some symptoms of MELAS such as short stature, seizures and mental retardation and that one had no clinical symptoms though the mtDNA mutation was identified in his blood. The findings in this family demonstrate the diversity of clinical expression of the mtDNA mutation and suggest that a combination of sensorineural deafness and diabetes mellitus is only one typical presentation of the various phenotypic features caused by the 3,243 mutation.
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PMID:[Detection of a mutation in mitochondrial DNA in a family with sensorineural deafness and diabetes mellitus as the predominant clinical features]. 756 31

Sudanophilic cavitating leukodystrophy is an unusual disorder of the cerebral white matter, clinically characterized by deafness, mental retardation, behavioural alterations and lesions of the descending long tracts. Neuropathological features include: extensive subcortical and deep central demyelination, conspicuous astrocytosis and macro and micro cavitation. We describe a 34 year-old male with personal and family history, clinical features and neuropathological changes consistent with Sudanophilic cavitating leukodystrophy. As far as our knowledge is concerned this constitutes the first report of this entity in Venezuela.
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PMID:[Sudanophilic cavitating leukodystrophy: adult familial form]. 777 43

The acronym DOOR was first used by Cantwell in 1975 to describe a syndrome comprising sensorineural deafness, osteodystrophy, onychodystrophy, and mental retardation. To date, 16 cases of the syndrome have been documented in the literature. We present two sisters who died in early infancy with the clinical features of DOOR syndrome, both of whom in addition had cardiac defects and urinary tract abnormalities. Both infants had the classical clinical features of sensorineural deafness, seizures, hypoplastic nails, finger-like thumbs, and the characteristic facies of the syndrome. Autopsy in each case revealed the additional findings of a membranous ventricular septal defect and a septum secundum atrial septal defect. The first child had left-sided hydronephrosis and hydroureter, and the second sibling had bilateral hydronephrosis, hydroureter, and dilatation of the bladder. Congenital heart disease and renal abnormalities have not to our knowledge been previously described in association with the DOOR syndrome.
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PMID:Congenital heart disease and urinary tract abnormalities in two siblings with DOOR syndrome. 780 78

A 4-year-old female with Cockayne syndrome presented for cataract extraction under general anesthesia. She was thin and frail; her neck, epiglottis and larynx were stiff; she was deaf and blind; and she could not speak, sit unaided, or perspire. At the time of her admission, she weighed 5.5 kg. Cockayne syndrome is a disease of childhood characterized by mental retardation and premature aging. Although the underlying abnormality appears to be autosomal recessive inheritance or metabolic (possibly thymic) dysfunction, there is no consensus on etiology. The multiple organ involvement carries significant implications for the anesthetist. Intubation can be technically difficult, and care of the skin can be problematic. Essential hypertension, hepatic deficiencies, osteoporosis, deafness, blindness, and other effects of premature aging may be encountered making perioperative management a challenge.
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PMID:Cockayne syndrome: a case report. 781 Feb 87

Cockayne's syndrome (CS) is a rare autosomal recessive premature-aging disorder which is clinically characterized by physical and mental retardation, retinal pigmentation, sensorineural deafness and other neurological abnormalities. Auditory brainstem responses (ABRs) and behavioral audiometry were studied in 4 cases of confirmed CS chronologically. In one case, ABRs were normal at first but became abnormal. Initially, ABRs revealed only wave I with prolonged latency and thereafter no response. In another case, ABRs revealed the absence of all waves beyond wave III and then revealed the disappearance of all waves. In 2 other cases, ABRs were absent from the first testing. Behavioral levels were elevated in all 4 cases. In 2 cases, behavioral levels did not change in spite of partial disappearance of ABR waves, but they had elevated severely since all waves including wave I disappeared. Our findings suggest that the disease spreads from the upper brainstem to the cochlear nerve and that the site of the lesion causing hearing loss in CS is in the brainstem lesion as well as the peripheral one.
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PMID:Chronological changes of auditory brainstem responses in Cockayne's syndrome. 783 34

We present monozygotic twin boys of a triplet pregnancy with phalangeal abnormalities, deafness, a caudal appendage and the additional features of short stature, cryptorchidism, mental retardation and facial dysmorphism.
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PMID:Caudal appendage, short terminal phalanges, deafness, cryptorchidism and mental retardation: a new syndrome? 789 39

We have found that the microsatellite marker AFM207zg5 (DXS995) maps to all previously described deletions which are associated with X-linked mixed deafness (DFN3) with or without choroideremia and mental retardation. Employing this marker and pHU16 (DXS26) we have identified two partially overlapping yeast artificial chromosome clones which were used to construct a complete 850 kb cosmid contig. Cosmids from this contig have been tested by Southern blot analysis on DNA from 16 unrelated males with X-linked deafness. Two novel microdeletions were detected in patients which exhibit the characteristic DFN3 phenotype. Both deletions are completely contained within one of the known DFN3-deletions, but one of them does not overlap with two previously described deletions in patients with contiguous gene syndromes consisting of DFN3, choroideremia, and mental retardation. Assuming that only a single gene is involved, this suggests that the DFN3 gene spans a chromosomal region of at least 400 kb.
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PMID:X-linked mixed deafness (DFN3): cloning and characterization of the critical region allows the identification of novel microdeletions. 798 85

Osteopathia striata with cranial sclerosis (OS-CS) is a specific bone dysplasia manifested by hypertelorism, flat nasal bridge, frontal bossing, large head, hypoplastic maxilla, palate anomalies, chronic otitis media, hearing deficits, nasal obstruction, and neurological changes of deafness, facial palsy, ophthalmoplegia, and mental retardation. We will review the clinical and radiologic findings in a new patient from birth to 20 years; this is believed to be the thirty-fifth patient reported. OS-CS is 2.5 times more common in females and occurs as an autosomal dominant condition or a sporadic dominant mutation with patients presenting for evaluation from the newborn period to the fifth decade. Skeletal abnormalities are distinctive including sclerosis of the skull base and calvarium, linear striated densities in the long bones and pelvis, and poor development of the mastoid and sinus air cells. Radionuclide bone scans with SPECT indicated in our patient increased bone turnover which was supported by biochemical findings of increased pyridinoline excretion. The major complications are due to constriction of essential foramina at the skull base. The condition is not life-threatening but can produce disability.
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PMID:Osteopathia striata with cranial sclerosis. 800

Another possible sporadic case of the Ohdo blepharophimosis syndrome is described and compared with the seven patients previously reported. It can be considered a distinctive syndrome showing blepharophimosis, ptosis, dental hypoplasia, mental retardation and deafness. This case helps to define the spectrum of the phenotypic anomalies.
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PMID:A case with blepharophimosis resembling Ohdo syndrome. 805 31


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