Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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.
 ...
PMID:Cerebral palsy: predictive value of selected clinical signs for early prognostication of motor function. 126 90

Three- and four-year-old brothers, ostensibly with a nonprogressive spastic quadriparesis, had retinitis pigmentosa and mental retardation. One had clinical deafness. The brothers showed little developmental progress in infancy and exhibited deterioration in childhood. Known metabolic and acquired causes were excluded. Although they have some features of several other syndromes,the condition reported here is unique.
 ...
PMID:Progressive quadriparesis, mental retardation, retinitis pigmentosa, and hearing loss: report of two sibs. 127 2

This study presents ultrasound findings and neurodevelopmental follow-up in ten infants born at term suffering most severe grade of hypoxic-ischemic encephalopathy. Early ultrasound findings showed in nine of these ten neonates signs of cerebral edema accompanied in two children by intraventricular haemorrhage. Late ultrasound findings in all infants examined demonstrated severe cerebral atrophy, predominantly affecting the cortico-subcortical area. In three children multiple subcortical cysts were also present, corresponding to ultrasound findings of subcortical leukomalacia. Cranial computerized tomography was performed in six of the ten children, showing more precisely the predominant site of cortical atrophy, whereas in children with ultrasound findings of subcortical leukomalacia extensive low density areas in the subcortical white matter were present. All children had neurodevelopmental follow-up for between two and seven years. Six of the ten children have multiple disabilities suffering from spastic quadriparesis, epilepsy, mental retardation and/or visual disability. Among these six were all three children with subcortical leukomalacia. All the children demonstrated poor head growth and became markedly microcephalic. We consider ultrasonography to be very useful in the diagnosis of hypoxic-ischemic brain damage in term neonates as well in predicting the neurodevelopmental outcome in asphyxiated term infants.
 ...
PMID:Hypoxic-ischemic brain damage in term neonates--the relation of neurodevelopmental handicap to cranial ultrasound findings. 146 97

A 36 year old patient known to suffer from the Laurence-Moon-Biedl-Bardet syndrome (LMBBS) developed spastic quadriparesis. The typical features of the syndrome, presented by this patient were polydactyly, obesity, hypogonadism, retinitis pigmentosa and relative mental retardation. Severe spinal cervical and lumbar canal stenosis imaged by plain X-rays and computerised tomography was found. Magnetic resonance imaging showed significant atrophy of the spinal cord, indicating that the cause of the quadriparesis was cervical myelopathy. The patient underwent laminoplasty with some improvement.
 ...
PMID:Quadriparesis in the Laurence-Moon-Biedl-Bardet syndrome: case report. 188 35

This report gives a description of 4 male patients, two of whom are sibs, two of whom are uncle and cousin. They appear to have psychomotor retardation, spastic quadriparesis and on CT (partial) agencies of the corpus callosum, and irregular lining of the lateral ventricles, without craniofacial abnormalities or seizures. Although the mode of inheritance of agenesis of the corpus callosum is still difficult to establish, in these 4 male patients an X-linked recessive inheritance is the most likely mode. A review of the literature with concern to the heredity of agenesis of the corpus callosum is presented. The clinical and neurological findings in the present four male patients allow for the delineation of a new X-linked mental retardation syndrome.
 ...
PMID:Corpus callosum agenesis, spastic quadriparesis and irregular lining of the lateral ventricles on CT-scan. A distinct X-linked mental retardation syndrome? 208 Oct 3

Osteogenesis imperfecta, a rare connective tissue disorder, is known to be associated sometimes with the invagination of the basilar skull. This deformity may disturb respiratory function secondary to brain stem compression and hydrocephalus. In addition, the deformed thoracic cage and fragile ribs make pulmonary care more complicated. A case of 24-year-old man is presented with brain stem compression syndrome secondary to osteogenesis imperfecta congenita with basilar impression. He developed respiratory failure and became tracheostomy positive-pressure ventilator dependent at the age of 21 years. He also suffered multiple skeletal abnormalities and mental retardation, and following the brain stem compression, severe quadriparesis. The patient's condition is stable since he has been using the ventilator and he is currently living in the community.
 ...
PMID:Chronic ventilator use in osteogenesis imperfecta congenita with basilar impression: a case report. 800 73

A previously healthy 8-month-old girl developed exanthem subitum and acute encephalopathy with status epilepticus, quadriplegia and bilateral abducens nerve palsies. Human herpesvirus-6 DNA was found in the cerebrospinal fluid by the polymerase chain reaction at the acute stage. Cranial computed tomography showed low density areas in the thalami and in the cerebellar and abducens nuclei. The distribution of the lesions was consistent with acute necrotizing encephalopathy. As for the thalamic lesions, a T2 weighted magnetic resonance image on the 24th day of the illness demonstrated low signal intensity surrounded by high intensity; 99mTc-ECD SPECT showed hypoperfusion, which suggested irreversible tissue damage. The patient is now 1 year 6 months old and has spastic quadriparesis with mental retardation and abducens nerve palsies.
 ...
PMID:Serial neuroimages of acute necrotizing encephalopathy associated with human herpesvirus 6 infection. 857 24

This article deals with the clinical profile of children with cerebral palsy and epilepsy, and to study the clinical predictors of response to anti-epileptic drugs. It is a prospective hospital based follow-up study. All the children who presented with cerebral palsy and history of seizure (other than neonatal seizures) over a period of one year were included. Seizures were classified according to ILAE classification. An EEG was obtained in all cases. Neuroimaging was done in all patients. Eighty-five patients were studied and followed for minimum of 12 months. Perinatal factors accounted for 62 (72.3%) cases. The motor deficits seen were quadriparesis (n = 64), hemiplegia (n = 12) and diplegia (n = 9). Associated mental retardation was seen in 80.9% patients with quadriparesis. A predominance of generalised epilepsy was seen with generalised tonic clonic seizures (32.9%) followed by mycolonic seizures (30.6%) and localisation related epilepsy (24.7%). The patients with quadriparesis were more likely to have generalised epilepsy and 52.4% of them required two or more anti-epileptic drugs for control of seizures. Patients with hemiplegia had localisation related epilepsy in 83.3% of cases. On multivariate analysis presence of quadriparesis, microcephaly, mental retardation and myoclonic epilepsy were found to predict the poor response to AED. Epilepsy in patients with cerebral palsy is of severe nature and difficult to control. Presence of quadriparesis, mental retardation and myoclonic seizures was predictive of poor response to anti- epileptic drugs.
 ...
PMID:Epilepsy in children with cerebral palsy. 1128 76

Craniodiaphyseal dysplasia (CDD) is a rare sclerosing bone disorder, the severity of which depends on its phenotypic expression. Hyperostosis can cause progressive foraminal stenosis leading to palsy of cranial nerves, epilepsy and mental retardation. We report the only case of CDD in an adult, with stenosis of the cervical canal leading to quadriparesis as a late complication of hyperostosis, and describe the problems associated with its treatment. Although the syndrome is rare, its pathophysiological and therapeutic considerations may be applicable to the management of stenosis of the spinal canal in other hyperostotic bone disorders.
 ...
PMID:Stenosis of the cervical canal in craniodiaphyseal dysplasia. 1134 13

Submicroscopic recurrent 16p11.2 rearrangements are associated with several neurodevelopmental disorders, including autism, mental retardation, and schizophrenia. The common 16p11.2 region includes 24 known genes, of which 22 are expressed in the developing human fetal nervous system. As yet, the mechanisms leading to neurodevelopmental abnormalities and the broader phenotypes associated with deletion or duplication of 16p11.2 have not been clarified. Here we report a child with spastic quadriparesis, refractory infantile seizures, severe global developmental delay, hypotonia, and microcephaly, and a de novo 598 kb 16p11.2 microduplication. Family history is negative for any of these features in parents and immediate family members. Sequencing analyses showed no mutations in DOC2A, QPRT, and SEZ6L2, genes within the duplicated 16p11.2 region that have been implicated in neuronal function and/or seizure related phenotypes. The child's clinical course is consistent with a rare seizure disorder called malignant migrating partial seizure disorder of infancy, raising the possibility that duplication or disruption of genes in the 16p11.2 interval may contribute to this severe disorder.
 ...
PMID:Duplication 16p11.2 in a child with infantile seizure disorder. 2050 37


1 2 Next >>