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)

Transient erythrocytosis during the neonatal period may result in serious complications. Among the well recognized problems are respiratory distress, acute heart failure, and death. Little attention has been ascribed to the neurologic complications of a high hematocrit level in the neonatal period. This report describes four pediatric patients with neurologic deficits presumably due to transiently high hematocrit levels during the neonatal period. The neurologic findings in these patients were consistent with the general diagnosis of cerebral palsy. We hypothesize that they may be representative of a group of patients with seizures, structural central nervous system defects, and/or mental retardation secondary to transient erythrocytosis. Moreover, prompt recognition and treatment of this hematologic finding may prevent the immediate or late appearance of such neurologic findings.
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PMID:Transient erythrocytosis during the neonatal period: possible neurologic compications. 45 51

There is an absence of definitive information concerning the long-term outcome of children born with intraventricular hemorrhage (IVH). Physicians, however, are called on to prognosticate about the future quality of life of these children. Our study examined pediatricians' and neonatologists' prognoses for infants with grade I- and grade-IV IVH and the impact of those prognoses on recommendations for treatment. A national random survey of 289 pediatricians and 283 neonatologists found that both groups expected infants with grade-I IVH to have slight impairments to future development, whereas infants with grade-IV IVH were expected to have severe impairments. Physicians prognosticated that infants with grade-IV IVH would function at a moderate to severe level of mental retardation, incapable of any employment, and residing in an institution. Furthermore, physicians would encourage parents to seek medical treatment of respiratory distress for the infant with grade-I IVH but were neutral or would discourage parents from seeking treatment for the infant with grade-IV IVH. Lastly, physicians' prognoses were significantly related to their recommendations for treatment. Several differences in physicians' prognoses and recommendations were found to be related to their discipline and training.
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PMID:Physicians' prognoses about the quality of life for infants with intraventricular hemorrhage. 186 19

Under the pathological conditions, the VEP may show changes in amplitude, latency, or waveform in one or more of its components. The major advantage of the pattern reversal VEP over the flash VEP lies in smaller variability in the waveform and latency of its components in the healthy population. The flash VEP is, however, particularly useful to infants and newborns. The variation in the waveform of the flash VEP was evaluated, and Type V was abnormal waveform. Subsequently, patients with various CNS diseases were examined. Acute hemiplegic patients showed high amplitude or increased latency patterns. In 45 percent of the West syndrome cases, VEP showed abnormal responses. The patients with asphyxia, respiratory distress syndrome and mental retardation showed increased latency. Latency was decreased in hypoglycemia and hypocalcemia of newborns, and it was increased or decreased in autism and epilepsy. In our study, it was concluded that the rhythmic after-discharge is a true response. This assumption is supported by the following observations: (1) the after-discharge of VEP appeared before the occurrence of the alpha-wave in EEG; (2) the frequency of the after-discharge was generally higher than that in EEG; and (3) the frequency of the after-discharge did not change between the conditions of the resting state and hyperventilation. There was no after-discharge in VEP in patients with a history of encephalitis even when their IQs were normal, and the latency was increased in pattern reversal VEP.
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PMID:[Visual evoked potential]. 271 54

Pregnancy and delivery present a number of risks for the mother suffering from myotonic dystrophy, and for her infant. Most of the time, she does not even know that she is affected by the disease and a carrier of the gene. We review the complications of pregnancy and delivery in myotonic patients, and propose a simple management with specific items for each gestational period. The child of a dystrophic mother has a 50% risk of inheriting the abnormal gene. He may also exhibit a developmental and malformation syndrome called "congenital myotonic dystrophy". From the beginning, he may show respiratory distress, thereafter inability to swallow and severely hypotonia. Later, he may demonstrate mental retardation. Some of the most obvious signs found in neonates in our practice are illustrated. We also add a few tests to the list of those already recommended for these children.
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PMID:[The mother and infant with Steinert's myotonic dystrophy]. 292 2

We report a patient with Antley-Bixler syndrome and review 13 patients from the literature. The cardinal features of this condition include craniosynostosis, severe mid-face hypoplasia, proptosis, choanal atresia/stenosis, frontal bossing, dysplastic ears, depressed nasal bridge, radiohumeral synostosis, long-bone fractures and femoral bowing, urogenital abnormalities and a normal karyotype. Early death was identified in 54% of the reported cases, usually due to respiratory complications. The oldest patient at the time of follow up was 10 years of age. Intellectual performance has been variable (developmental testing of our patient at 30 months of age showed a range of developmental skills equivalent to 6 to 11 months of age). Chronic respiratory distress, especially if accompanied by periods of apnea, may be important in the causation of mental retardation. Some patients with the syndrome have normal intelligence, which suggests a normally developing brain, particularly if a craniectomy is performed to treat sutural synostosis and indicates that there may be secondary factors (e.g., apnea) playing a role in the mental retardation (as seen in our patient with a history of apnea) in patients with the Antley-Bixler syndrome. Since choanal atresia/stenosis which diminishes the airway passage is a cardinal feature of this syndrome, choanal stenting should be performed on those patients with this finding during infancy to decrease the airway obstruction. All patients followed beyond infancy were ambulatory, including our patient at 35 months of age, who will take steps with assistance. Although most cases are sporadic, there were reports of recurrence in siblings of both sexes in two families, suggesting an autosomal recessive mode of inheritance.
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PMID:Antley-Bixler syndrome: report of a patient and review of literature. 788 49

The feeding skills and health of 73 adults with severe developmental disabilities who aspirated were examined between 1986 and 1990. Sixty individuals had profound mental retardation (82%) and 48, cerebral palsy (66%). Modified barium swallow studies, esophagrams and gastric follow-throughs were completed on 67 clients (92%). Twenty adults aspirated barium. Aspiration was specific for barium texture in 8 (40%). Mobility, level of mental retardation, or feeding skills did not discriminate those who aspirated. Mealtime respiratory distress (65%) or chronic lung disease (55%), however, were significantly associated with aspiration. More studies are needed on the early identification and management of aspiration.
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PMID:Long-term morbidity and management strategies of tracheal aspiration in adults with severe developmental disabilities. 814 25

The survey on immunization, treatment for diarrhea, night blindness, and infant mortality was carried out in April, 1992, using a cluster sample design and systematic random sampling. 30 clusters (villages) were selected from a total of 105, and 25 households with a child less than 5 years old were identified in each cluster. The female head of household was interviewed. A total of 761 households with at least 1 child less than 5 years old were surveyed. There were 4667 persons in the sample: 282 were children less than one year old and 853 were children aged 12-59 months. The mean age of the respondents was 34 +or- 9 years, and 48% could not read. A handicapped person was reported in 14% (106/761) of the households. In children under 10 years of age, mental retardation, polio sequelae, and deafness/hardness of hearing were the leading causes (17/21, 81%) of disability. In children 10-14 years old, deafness/hardness of hearing and partial or complete blindness accounted for 72% (15/21) of the disabilities: 33% of 20-39 years old handicapped adults (14/42) were missing 1 or more limbs and 12% (5/42) suffered from polio sequelae. A child with night blindness was reported in 14% (107/761) of the households. Diarrheal episodes in the 2 weeks before the survey amounted to 578/761 (51%) of children less than 5 years old. Treatment included oral rehydration therapy in 145 (10%), and Western medicine in 702 (49%). 49% of the mothers reported that their child had been immunized. Fully immunized children 9-23 months old numbered 20/134 (6%). Infant mortality rate was 84/1000 live births. 81% of infant deaths occurred within 6 months of birth. Fevers and respiratory distress were reported as the leading causes of death. Improving access to immunization services should be a priority. The high number of night blindness and either partial or complete loss of vision indicate need for vitamin A supplements. In-depth interviews of mothers of recently deceased children could help determine the causes of death, and assist program planners in reducing the high morbidity and mortality in the district.
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PMID:A population-based health survey in Kon Dieng District, Cambodia. 824 69

Two unrelated Mexican girls, aged 14 months and 6 years respectively, with Kaufman oculocerebrofacial syndrome, are reported. Both showed psychomotor retardation, microcephaly, blepharophimosis and delayed growth as the main features; the infant also presented preauricular tags and large clitoris. Comparative analysis with previous cases reveals a heterogeneous syndrome in which the micro-brachycephaly, the mongoloid slanted eyes with different anomalies, the micrognathia and the neonatal respiratory distress are the most typical characteristics of this mental retardation syndrome.
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PMID:Kaufman oculocerebrofacial syndrome: report of two new cases and further delineation. 827 67

Myotonic dystrophy (DM) results from the amplification of an unstable CTG repeat in the 3' untranslated region of a transcript encoding an MtPK. Infants with congenital DM are shown to have on average a greater amplification of the CTG repeat than is seen in the noncongenital DM patients. The major clinical features of congenital DM are bilateral facial weakness, hypotonia, feeding difficulties, respiratory distress, delayed motor development and mental retardation. We present 6 patients, aged 11-35 years, from unrelated 5 families with clinical symptoms of congenital DM. The four of the patients were inherited paternally and only one showed a reduction in the CTG repeat size.
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PMID:[Clinical and molecular genetic analyses of congenital myotonic dystrophy]. 943 43

Undetected foreign body aspiration is a well-known problem not only in children and patients with predisposing conditions like mental retardation, seizures or brain tumours, but also in healthy subjects. The clinical signs are quite different. Haemoptysis, cough, recurrent or chronic penumonia and bronchitis may occur. These symptoms are often accompanied by fever, weight loss and night sweat. Atelectasis, respiratory distress or death have been described. We demonstrate the case of a 39-year old man with Down syndrome who was transferred to our hospital because of pneumonia in the left lower lobe that had been lasting for about two months. It had been resistant to several antibiotic regimens. Computerised tomography led to the suspicion of a bronchial carcinoma with poststenotic infiltration of the lower lobe. Fibreoptic bronchoscopy and biopsy confirmed the diagnosis of a foreign body in the distal part of the left main bronchus. After two weeks of treatment with ciprofloxacin regression of the acute inflammation occurred. During a second bronchoscopy we could extract the foreign body (a 1 x 1.7 cm vertebra of a dove). It is concluded that undetected foreign body aspiration can occur in various clinical settings and fibreoptic bronchoscopy is a suitable approach providing an exact diagnosis.
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PMID:[Aspiration pneumonia caused by vertebrae of a dove in a 39 year old patient with Down syndrome]. 1044 52


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