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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A clinical and genetic study of congenital myotonic dystrophy in Britain has been carried out in 70 patients from 54 sibships. The clinical aspects are analysed here, and the existence of a syndrome clinically distinct from myotonic dystrophy of later onset is confirmed. Characteristic features included neonatal hypotonia, motor and mental retardation, and facial diplegia. A high incidence of talipes occurs at birth together with hydramnios and reduced fetal movements during pregnancy, factors suggesting prenatal onset of the disorder in many cases. Prolonged survival is the rule after infancy, but the occurrence of numerous neonatal deaths in the sibships suggests the existence of unrecognized cases dying in the neonatal period.
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PMID:Congenital myotonic dystrophy in Britain. I. Clinical aspects. 110 35

Observations relating to 18 cases of the neonatal form of myotonic dystrophy are described. These consisted of 9 cases of severe forms incompatible with survival, characterised by major respiratory disorders, hypotrophia and difficulty in swallowing, associated with a facial diplegia and pes equinus. The other 9 patients suffered from more moderate, not lethal forms. In addition to muscular troubles manifested by precocious hypotonia, the disease involved serious mental retardation. The absence of myotonia was constant in the very young infants. Anomalies in pregnancies resulting in the birth of children suffering from a neonatal form of myotonic dystrophy are analysed and their frequency is emphasized. From the genetic point of view, the elective transmission of myotonic dystrophy by the mothers was found in all the cases. The knowledge of neonatal forms must be taken into consideration for genetic counseling.
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PMID:[Clinical and genetic aspects of the early form of Steinert's dystrophia myotonica]. 121 49

A prospective longitudinal study involving 233 children with cerebral palsy was carried out to select signs useful for early prognostication of ambulation. All patients were followed from the time they were 12 months old and their progress was observed until they reached the age of 3 to 11 years. The population consisted of 61 children having congenital hemiplegia, 37 having diplegia, 85 having spastic quadriparesis and 28 having the spastic-athetoid clinical type of cerebral palsy. In addition, there were 14 children with athetoid, 6 with ataxic and 2 with hypotonic cerebral palsy. Of the total population, 78.7% achieved some degree of functional walking. Findings indicated that the probability of ambulation was related to the clinical type of cerebral palsy. In some the ultimate functional outcome was rather uniform, as in those with congenital hemiplegic and ataxic types where the prognosis was consistently favorable or in those with hypotonic cerebral palsy in whom the outlook was poor. In spastic diplegic, quadriparetic, spastic-athetoid and athetoid types, on the other hand, expectations varied considerably. For this group of patients, sitting by two years was found to be a predictive sign of high reliability since all children who sat by this age eventually walked. For the group of patients not sitting by two years which included more than half of the eventual ambulators, suppression of obligatory primitive reflex activity between 18 and 24 months provided a sensitive indicator to distinguish the children who ultimately walked from those who would not be expected to do so. These data offer a possibility for predicting future ambulatory status by two years of age in those clinical types of cerebral palsy where difficulties of early accurate prognostication are most likely to be encountered. Observations also suggested that the presence of mental retardation adversely affects ambulation.
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PMID:Cerebral palsy: predictive value of selected clinical signs for early prognostication of motor function. 126 90

The clinical pattern and etiology of 544 cases of cerebral palsy were studied retrospectively. Of these cases, 354 (65.1%) were males. Four hundred and ninety seven (91.4%) cases were of spastic type. Hypotonic, ataxic and athetoid cerebral palsy were observed in 5.5, 1.5 and 1.3% cases, respectively. There was one case each of tremor and mixed type. In the spastic group, quadriplegia comprised the maximum number of cases (34.9%). Hemiplegia (28.7%) and diplegia (21.9) were also common. Mental retardation was found in 47.2%, while speech impairment was observed in 37% cases. Other handicaps included visual (9%), seizures (8.8%), and auditory handicap (2.9%). The etiological factors were prenatal in 7.7% cases, natal in 43.8% cases and postnatal in 26.1% cases. More than one etiological factor was observed in 14.5% cases, while in 7.9% cases, no apparent cause could be found.
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PMID:Cerebral palsy. 807 18

Neuronal migration anomalies are caused by insults occurring during the third to fifth gestational months when neuroblasts migrate from the germinal zone to the cortical plate. They lead to several cerebral malformations such as macrogyria, identified nowadays by MRI. We describe a case of bilateral parieto-rolandic macrogyria responsible for a bi-opercular syndrome resulting in a facio-linguo-masticatory diplegia associated with mental retardation and severe epilepsy.
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PMID:[Facio-linguo-masticatory diplegia and epilepsy. Cortical dysplasia]. 149 29

Thirteen neurologically impaired children with paroxysmal ocular downward deviation were studied. The eye movement accompanied downward movement of the upper eyelid; there was no coincident paroxysmal discharge on electroencephalography. The ocular abnormality was observed in infancy, predominantly in preterm infants, and spontaneously resolved in many of them. All patients had spastic quadriplegia or diplegia and mental retardation. Many children also had cortical visual impairment. This eye movement abnormality, not reported previously, should be considered to be a neurologic sign in brain-damaged infants with cortical visual impairment.
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PMID:Paroxysmal ocular downward deviation in neurologically impaired infants. 147 82

The aims of the study were (1) to replicate previous quantitative studies of motor activity in low-risk and high-risk preterm infants and (2) to apply a new method of systematic analysis of the qualitative characteristics of general movements in these two groups of infants. Sequential one-hour videorecordings of the unstimulated infants in the incubator were made during the preterm period and then continued during the postterm period until about 20 weeks. The high-risk group consisted only of infants with signs of haemorrhage and/or leucomalacia in the repeated ultrasonograms of the brain. The neurological follow-up continued up to a minimum of one and a maximum of three years of corrected age. The quantification of the various motor patterns in 12 matched pairs of low-risk and high-risk preterm infants revealed a slight but significant (P = 0.05) excess of isolated arm movements in the low-risk cases during the activity phase. No other movement pattern differed significantly. The qualitative assessment of general movements during the preterm period resulted in all but one of the 14 low-risk cases having a normal quality of general movements. In the lesion-group (N = 29) all the infants had an abnormal quality during the preterm period. Eight cases later became neurologically normal although 1 of them had strabism. In addition, one infant was blind (ROP) and retarded and one other had mental retardation. Nineteen infants later developed cerebral palsy (two monoplegia of a leg, three hemiplegia, 5 diplegia and 9 quadriplegia). Strabism was present in 48.3% of the whole group of 29 cases. A semi-quantitative estimation of various aspects of the abnormal general movements made a typology of abnormal patterns possible. A graphic display of developmental trajectories of individual cases, depicting the course of abnormal aspects along the time axis, helps document the evolution of abnormal signs. Their course is a better predictor of the neurological outcome than the nature and localization of the lesion, detected by imaging techniques. The qualitative assessment of general movements from videorecordings is a reliable, quick, cheap and totally non-intrusive method in neonatology for the early detection of functional impairment of the nervous system.
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PMID:Qualitative changes of general movements in preterm infants with brain lesions. 225 80

The relationship between serum creatine kinase brain-specific isoenzyme (CK-BB) activity immediately after birth and neurodevelopmental outcome at two and four years corrected age was studied prospectively in 45 preterm infants (less than 34 weeks gestation). Nine infants died during the neonatal period and one was lost to follow-up. Of the 35 children available for follow-up, seven had motor disabilities: four severe diplegia, two mild to moderate diplegia and one hemiplegia. No relationship existed between these motor disabilities and serum CK-BB activity after birth. There seemed to be a relationship between increased serum CK-BB after birth and low scores on the Bayley Scales of Mental Development, but this did not reach statistical significance. At the age of four years, four of the five survivors with high serum CK-BB activity after birth (greater than 25U/L) needed special schooling because of mental retardation. Increased serum CK-BB activity after birth may be associated with delayed mental development, but further study is needed, especially of asphyxiated infants.
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PMID:Serum CK-BB activity in the preterm infant and outcome at two and four years of age. 236 44

This article presents a 4-year-old boy who suffered from weakness of the right extremities since birth. Physical examination revealed mild mental retardation and right spastic hemiplegia. No seizures were noted. A brain CT scan showed bilateral clefts along Sylvian fissures, more marked on the left side, which communicated with the lateral ventricle. The septum pellucidum was absent. There was an evident squaring of the frontal horns. The CT findings were consistent with the diagnosis of schizencephaly. When a patient with mental retardation and spastic hemiplegia or diplegia fails to show a history of perinatal cerebral insult, the possibility of schizencephaly should be considered. In that case, a brain CT scan is a rapid and accurate diagnostic tool.
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PMID:[Schizencephaly: report of one case]. 263

The prevalence of cerebral palsy (CP) in Swedish infants born in the four-year period 1979-82 is reported and related to the prevalence in infants born during the twenty-year period 1959-78. In 1979-82 it was 2.17 per 1,000 livebirths, 1.23 for children born at term and 0.94 for preterms, which means that the rising trend since the beginning of the 1970s persisted. The most pronounced rise, from 0.18 per 1,000 livebirths in the period 1967-70 to 0.67 in 1979-82 was found in the subgroup of preterms with spastic/ataxic diplegia. The severity of motor disability and the relative frequency of mental retardation, infantile hydrocephalus and epilepsy among preterm CP children successively increased over the same period of time. The livebirth prevalence of CP in term infants increased slightly but non-significantly during the period 1967-82. The birthweight-specific prevalence of CP per 1,000 newborns surviving the first week of life increased in all birthweight groups during the period 1967-82, significantly for birthweights below 1,500 g and over 2,500 g. The rising prevalence of CP was concomitant with a parallel fall in perinatal mortality, especially in very preterm infants. In the 1980s, severely multi-handicapped, very preterm children, only exceptionally seen among CP children born in the 1960s and 1970s, has become a matter of concern.
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PMID:The changing panorama of cerebral palsy in Sweden. V. The birth year period 1979-82. 278 17


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