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)

A family with hereditary nephritis, sensorineural hearing loss, macrocephaly, and mental retardation is reported. X-linked recessive inheritance was suggested by the presence of two affected brothers and a maternal uncle. This association may be a previously unreported variant of Alport's syndrome.
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PMID:X-linked recessive nephritis with mental retardation, sensorineural hearing loss, and macrocephaly. 792 64

The coexistence of mental retardation and retinitis pigmentosa has been well described in a number of congenital syndromes such as the Lawrence-Moon and Bardet-Biedl disorders. In contrast to this, little information is available regarding the association of acquired dementia with retinitis pigmentosa. This report summarizes the clinical features of a developmentally normal adult having the unusual symptom complex of retinitis pigmentosa, early-onset dementia, sensorineural hearing loss, and sensorimotor neuropathy. Though the coexistence of retinitis pigmentosa and dementia in this particular patient may be completely coincidental, it could be representative of a previously unrecognized subset of dementing illness. The literature pertaining to related symptom complexes is reviewed and discussed.
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PMID:Acquired dementia with retinitis pigmentosa. 819 25

A 35-year-old female was reported who presented early onset and slowly progressive ataxia and retrocollis which appeared at the age of nine. On admission, neurological examination revealed cerebellar ataxia, dystonia of the neck and the right arm, myoclonus of the neck and the shoulder, slight mental retardation, supranuclear upper gaze palsy, and sensorineural hearing loss. Laboratory examination showed high serum CK activity. Electromyography and muscle biopsy findings suggested slight muscular involvement. CSF level of HVA and 5-HIAA were reduced. MRI demonstrated marked cerebellar atrophy and slight atrophy of the brain stem. To our knowledge, the characteristic combination of the neurological sign in this case has not been reported. This case was compared with EOCA (early onset cerebellar ataxia with retained tendon reflexes) and other juvenile onset cerebellar ataxia and dystonia.
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PMID:[A case of juvenile onset ataxia with dystonia, myoclonus, sensorineural hearing loss and mental retardation]. 826 7

The prevalence of MHL in 202, 1 to 6 year-old children with communication disorders who visited our clinic in 1991 was investigated. 1) 31% of the subjects had MHL bilaterally. The prevalence of MHL was 44% at age 1 year, 20% at age 2 years, 36% at age 3 years, 24% at age 4 years, 39% at age 5 years, 33% at age 6 years. 2) 88% of children with MHL had OME, 10% had mild sensorineural hearing loss, and 2% had cerminous plug. 3) The prevalence of MHL in children with mental retardation and autistic disorders was 9%, that with stuttering was 9%, that of OME accompanied by moderate and severe hearing disorders was 6%. 4) The primary causes in 191, except for those with stuttering, were as follows; the prevalence of MHL was 30%, that of mental retardation and autistic disorders was 24%, and that of articulation disorders was 28%. 5) On the other hand, the prevalence of MHL in children with retarded language development and articulation disorders was 30%, which was significantly higher than that of the other communication disorders. Accordingly, the results of this study suggest that MHL in early childhood greatly influences communication disorders.
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PMID:[Mild hearing loss in children with communication disorders]. 834 1

The reliability of brainstem evoked response audiometry (ERA) as an objective audiometric study was evaluated in long term follow-up infants with moderate to severe sensorineural hearing loss. None of the infants had either brain damage (cerebral palsy, mental retardation) or other severe complications (genetic diseases). The thresholds of ERA at 1 kHz and 4 kHz were measured in 234 infants below one year of age, from 1983 to 1990, in our hospital. These infants were followed-up to the age when conditioned oriented response audiometry (COR) and play audiometry could be conducted. Pure tone thresholds obtained by COR and play audiometry were compared with those of ERA. In addition, speech problems in these patients were evaluated. In all of those infants, hearing aids were fitted before one year of age to achieve early habilitation. As a results, ERA was found to be a reliable and efficacious test for determining auditory thresholds, and providing hearing aids for early habilitation in one-year old infants with moderate to severe sensorineural hearing loss.
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PMID:[A study on the reliability of evoked response audiometry in infants below one year of age; a long-term follow-up]. 852 65

A 10-year-old girl complained or poor vision in both eyes. The patient showed progeria, physical and mental retardation, sensorineural hearing loss, cutaneous photosensitivity, hyperopia, poor pupillary dilation, exotropia, salt-and-pepper fundi, nondetectable cone and rod electroretinographic (ERG) responses, cerebral atrophy on computed tomography, and demyelination of periventricular white matter on magnetic resonance imaging. We believe that nondetectable cone and rod ERG responses in Cockayne syndrome, as demonstrated in our patient, may be uncommon.
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PMID:Nondetectable cone and rod electroretinographic responses in a patient with Cockayne syndrome. 892 50

To our knowledge, only four previous cases of distal chromosome 2p deletions exist in the literature. We present a patient with minor facial anomalies who had a distal interstitial deletion of the short arm of chromosome 2, del(2)(p24.2p25.1). This patient had many features seen in other patients with distal 2p deletion including short stature, "rectangular" facies, microcephaly, hypotonia, and mental retardation. This patient also has sensorineural hearing loss which has been described in one other patient with a similar deletion. The N-myc oncogene has been mapped to 2p24. By fluorescence in situ hybridization using a cDNA probe for the N-myc oncogene, this patient was found to have a deletion of the N-myc oncogene. This confirms the previous map location for N-myc.
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PMID:Loss of the N-myc oncogene in a patient with a small interstitial deletion of the short arm of chromosome 2. 898 54

Six cases of the CHARGE association are described that were encountered consecutively at an institute for the deaf. Five of them showed external ear anomalies and according to expectations all of them showed some degree of hearing impairment: two had moderate mixed hearing loss; three had severe to profound sensorineural hearing loss; and one was completely deaf. In addition, they all had vestibular areflexia and the five cases examined with computer tomography of the petrosal bones showed aplasia of the semicircular canals. One case with poor visual acuity also showed subnormal optokinetic responses and horizontal pendular nystagmus during visual fixation. All these children were initially diagnosed as having severe psychomotor retardation, because of their failure to acquire speech and their delayed motor skill development. Given the fact that (mild) mental retardation was found in only one case, the delayed development could at least in part have been caused by vestibular areflexia. The vestibular findings support previously reported temporal bone findings that indicate dysplasia or aplasia of the superior part of the labyrinth. Early detection of the full extent of (multiple) sensory deficits is necessary in children with the CHARGE association who have similar abnormalities, because aggressive intervention and special educational support are likely to be of great benefit to sensorimotor development.
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PMID:Vestibular areflexia as a cause of delayed motor skill development in children with the CHARGE association. 915 48

Extracorporeal membrane oxygenation is an effective rescue treatment for severe cardiorespiratory failure in term or near term neonates, although cerebral palsy, mental retardation, and sensorineural hearing loss are observed in 10 to 20% of survivors. The objective of the present study was to identify potential risk factors that may explain the neurologic and audiologic sequelae noted in 19% of 181 survivors of neonatal extracorporeal membrane oxygenation from our hospital. Our results suggest the following findings in survivors of severe cardiorespiratory failure treated with neonatal extracorporeal membrane oxygenation: (1) hypotension or the need for cardiopulmonary resuscitation before extracorporeal membrane oxygenation significantly increases the risk of spastic cerebral palsy, (2) profound hypocarbia before extracorporeal membrane oxygenation is associated with a significantly increased risk of hearing loss, (3) mental retardation in the absence of spastic cerebral palsy is unexplained except when due to abnormal fetal brain development, and (4) hypoxemia in the absence of hypotension does not increase the risk of neurologic or audiologic sequelae.
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PMID:Clinical antecedents of neurologic and audiologic abnormalities in survivors of neonatal extracorporeal membrane oxygenation. 937 97

The Coffin-Lowry syndrome (CLS) is a rare clinical entity where patients present with a characteristic facies, mental retardation and bone abnormalities. So far about 60 cases have been reported. Sensorineural hearing loss is not a characteristic symptom and a late-onset hearing loss has not been reported so far. We report on 4 brothers with CLS, aged 9-17 years, of whom 3 suffered from a severe sensorineural hearing loss with an onset during late childhood and adolescence after a normal hearing during early childhood. CT scans revealed no cochlear abnormalities. The boys were successfully equipped with hearing aids. It is suggested that in all CLS patients the hearing ability should be examined during early infancy and retested regularly in cases with normal hearing as these cases indicate that in CLS a late-onset hearing loss is possible during late childhood and adolescence.
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PMID:Late-onset sensorineural hearing loss in Coffin-Lowry syndrome. 964 11


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