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)

Three cases of deletion of the short arm of chromosome 5 are described: one family cluster, in which the mother and three sons are affected, and two sporadics without the typical "cri du chat" phenotype (the family and Case 2 were previously reported in 1982). Mental retardation varied between affected members of the same family. Band p15.2 appears critical for the development of the complete phenotype. A peculiar deafness observed in the familial and one of the sporadic cases suggests a cochlear malformation.
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PMID:Terminal deletion of the short arm of chromosome 5. 323 75

A nine-year-old boy who exhibited mild proteinuria and severe renal dysfunction with short stature, mental retardation, retinitis pigmentosa, deafness, and intracranial calcification was presented. Clinical features of the patient were in the most part consistent with those of Cockayne's syndrome. On the renal biopsy, two-thirds of the glomeruli had fallen into global sclerosis. The remaining one-third showed thickening of the capillary walls and expansion of the mesangial matrix. Immunofluorescence study proved no significant deposition of immunoglobulins or complements. Electron microscopy revealed diffuse homogeneous thickening of the glomerular basement membrane. These histological findings were thought to be characteristic of the Cockayne's syndrome. Although the pathogenesis of Cockayne's syndrome is yet unknown, its renal lesions resembled those of an aged kidney, and a prematurely aged metabolic state was supposed as a principal cause of the disease.
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PMID:Renal lesions in Cockayne's syndrome. 336 65

Choroideremia, an X-chromosome linked retinal dystrophy of unknown pathogenesis, causes progressive nightblindness and eventual central blindness in affected males by the third to fourth decade of life. Choroideremia has been mapped to Xq13-21 by tight linkage to restriction fragment length polymorphism loci. We have recently identified two families in which choroideremia is inherited with mental retardation and deafness. In family XL-62, an interstitial deletion in Xq21 is visible by cytogenetic analysis and two linked anonymous DNA markers, DXYS1 and DXS72, are deleted. In the second family, XL-45, an interstitial deletion was suspected on phenotypic grounds but could not be confirmed by high-resolution cytogenetic analysis. We used phenol-enhanced reassociation of 48,XXXX DNA in competition with excess XL-45 DNA to generate a library of cloned DNA enriched for sequences that might be deleted in XL-45. Two of the first 83 sequences characterized from the library were found to be deleted in probands from family XL-45 as well as from family XL-62. Isolation of these sequences proves that XL-45 does contain a submicroscopic deletion and provides a starting point for identifying overlapping genomic sequences that span the XL-45 deletion. Each overlapping sequence will be studied to identify exons from the choroideremia locus.
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PMID:Isolation of anonymous DNA sequences from within a submicroscopic X chromosomal deletion in a patient with choroideremia, deafness, and mental retardation. 347 58

Delay in language development may be associated with an underlying anatomical, neurosensory, or psychological disorder such as: deafness, cerebral palsy, cleft palate, autism, or mental retardation. A condition called specific developmental language delay may occur in children devoid of any other identifiable disorder or developmental delay. Language delay associated with early onset, severe-to-profound hearing impairment has been well documented. Controversial studies have also appeared in the communicative disorders' literature suggesting that fluctuating conductive hearing loss in early childhood can significantly affect the development of language and related academic skills. Some authors have claimed that these deleterious effects can be irreversible. This study focuses on 3 groups of preschool children, in whom hearing acuity has been documented: One group with recurrent otitis and language delay; a second group with an equally well documented otitis history but without language delay; and a third group with documented language delay in the absence of any known predisposing conditions, including early-onset, recurrent otitis media. Prenatal, birth and developmental histories of the children in each group were compared in detail to identify any factors which may enhance or ameliorate the effects of fluctuating conductive hearing loss on language development. In a population of 1864 children (ages 9-59 months) referred for otolaryngologic and/or communicative evaluation, 480 otherwise normal children (67.6% males; 32.4% females) were found to have a history of early-onset, recurrent otitis media and/or delayed speech and language development on the basis of an extensive evaluation battery. This population was further subdivided into 3 groups (I = otitis-positive/normal language; II = otitis-positive/language delay; and III = otitis-free/language delay). Among the 329 children with positive histories for early otitis media (Groups I & II), a significantly higher percentage of those demonstrating language delay were from homes in the lower socio-economic category. Race and sex showed no significant relationship to language delay among the otitis-positive groups, although males were twice as numerous as females in the over-all study population. Articulation errors on speech measures and borderline delays in other developmental milestones (standing, walking, and toilet training) were also significantly greater in the language-delayed group when compared with otitis-positive children whose language was age-appropriate.(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:Medical profile of the language-delayed child: otitis-prone versus otitis-free. 358 81

The Aberrant Behavior Checklist was used to collect data from a large United States institution for comparison with ratings previously obtained in New Zealand. A total of 531 subjects within the American facility and 937 residents of New Zealand institutions were studied. The United States data were factor analyzed using the same procedures that were employed to develop the scale in New Zealand. In addition, subscales of the Checklist were analyzed as a function of sex, age, country, and level of mental retardation. Finally, the effects of various medical conditions were analyzed. The original factor structure of the Checklist was validated for the United States sample, with a mean coefficient of congruence of .93 averaged across the five factors. Sex failed to influence subscale scores, whereas age, country, and severity of retardation significantly affected ratings. Deafness was unrelated to Checklist scores whereas cerebral palsy, epilepsy, psychosis, and psychoactive drug treatment were related.
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PMID:The aberrant behavior checklist: factor structure and the effect of subject variables in American and New Zealand facilities. 359 45

The prognosis of perinatal brain damage was studied prospectively in a one year birth cohort of 12,000 children born in Northern Finland in 1966. Children were included in the study if they had an Apgar score of 0 at 1 min or less than 5 at 15 min, convulsions during the neonatal period, or a diagnosis of asphyxia, brain injury or intraventricular haemorrhage, but did not have CNS malformation, chromosomal aberrations or hereditary CNS degeneration. There were 233 children, 19.3 per thousand, of which 134, 58.0% were boys. Eighty-four, 36.4% died during the first 28 days and 7 children died before the age of 14 years, 6 of the latter group being handicapped. There were 44 children, 29.9% who had mental retardation, IQ less than 71, epilepsy or cerebral palsy. With regard to these children 13 had normal school performance, but there were 12 other children in the perinatal brain damage group who needed special education, two of them because of deafness. Perinatal brain damage accounted for 57.5% of all neonatal deaths, 30% of admissions to a special nursery and 12.5% of mental retardation (IQ less than 71), epilepsy and cerebral palsy at the age of 14.
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PMID:Prognosis of perinatal brain damage: a prospective study of a one year birth cohort of 12,000 children. 359 79

We report a mother and son who have a microcephaly with a characteristic dysmorphic face. Prominent manifestations include facial asymmetry, prominent glabella, deafness, low-set, cup-shaped ears, thick, protruding lower lip, micrognathia, and mental retardation. We conclude that these patients have a previously undescribed type of genetic microcephaly. The mother has become normocephalic and we would not have been able to diagnose her condition without her childhood photographs. Such photographs are essential in the recognition of familial syndromes.
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PMID:Syndrome of microcephaly, deafness/malformed ears, mental retardation and peculiar facies in a mother and son. 360 16

Xeroderma pigmentosum is an unusual neurocutaneous disorder. Recent studies have classified patients with xeroderma pigmentosum into 10 groups by somatic cell hybridization methods. In this report we describe 32 patients with Group A xeroderma pigmentosum, including 1 patient with an atypical case, who were assessed for neurological complications. Of these patients, 17 had microcephaly, 13 short stature, and 21 mental retardation. In patients over 7 years of age, sensorineural deafness and spinocerebellar signs such as nystagmus, dysarthria, tremor, and ataxia were frequently observed; no patients below 7 years of age had such neurological complications. Electroencephalographic studies revealed abnormal slow and low voltage background activity. Two patients had focal abnormal discharges, one of whom developed versive seizures. Cranial computed tomographic scans revealed abnormalities, including ventricular dilatation, cerebral atrophy, cerebellar and brainstem atrophy, and cranial bone thickening. A patient with an atypical case of Group A xeroderma pigmentosum had less skin and neurological involvement, and higher levels of postultraviolet colony-forming ability and host cell reactivation than did a typical Group A case. It is possible that these less severe cytological findings are responsible for the less severe skin lesions and neurological complications noted clinically.
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PMID:Neurological manifestations in xeroderma pigmentosum. 374 Aug 15

We describe three further children with the DOOR syndrome (deafness, onycho-osteodystrophy and mental retardation). A severe seizure disorder and characteristic facial appearance are part of the syndrome. Fourteen similar cases including the present patients are now on record. Autosomal recessive inheritance is likely. An increased level of 2-oxoglutarate in both plasma and urine has been found in our three patients. It is suggested there may be an inherited metabolic defect in this malformation syndrome.
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PMID:DOOR syndrome (deafness, onycho-osteodystrophy, and mental retardation): elevated plasma and urinary 2-oxoglutarate in three unrelated patients. 381 64

Impaired speech learning, mental retardation and alterations of affectivity and behaviour may be the consequences of profound neonatal deafness. The authors emphasize the importance of detecting the newborns at audiological risk and screening the neonates in order to get an early diagnosis and treatment of the affection, at least within the first year of life, to avoid or reduce the consequences of hearing loss; then they describe the procedure commonly in use at present for neonatal hearing screening and a number of available different diagnostic tools (electrodermal audiometry, heart rate audiometry--with the possibility of autoregressive analysis--respiration audiometry, autoregressive analysis of EEG, acoustic impedance measurements with study of the acoustic reflex, auditory response cradle which is also named CRIB-O-GRAM).
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PMID:[New methods for audiometric evaluation in childhood]. 383 51


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