Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018991 (hemiplegia)
 3,997 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Two-point discrimination (TPD) was measured on eight points of the upper extremities of 220 children with cerebral palsy aged between seven and 14 years. 46 had classical diplegia, 23 had mildly spastic diplegia (without adductor spasms), 86 had hemiplegia, 26 had generalized dyskinesia, 10 had right- and four had left-sided hemiathetosis and 25 had quadriplegia. TPD was decreased in all cases compared with normal controls: slightly more for the classical forms of diplegia and on the paretic side of those with hemiplegia, slightly less in athetoid children. This adds further evidence to the authors' previous observations that sensory disorder is an integral part of the clinical picture of cerebral palsy.
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PMID:Sensory disorders in cerebral palsy: two-point discrimination. 849 21

One hundred and one adults (19 to 74 years of age) with cerebral palsy were interviewed and examined. There were 52 subjects with dyskinesia, 28 with spastic quadriparesis, 11 with spastic diplegia, and 10 with spastic hemiplegia. Neuromuscular dysfunction was mild in two cases, moderate in 72 and severe in 27. 76 per cent of the subjects had multiple musculoskeletal problems. In 63 per cent, these occurred under 50 years of age, suggesting that abnormal biomechanical forces and immobility had led to excessive physical stress and strain, overuse syndromes, and possibly early joint degeneration. A number of the patients had urinary complaints due to difficulties with toilet accessibility and possible neurogenic bladder. General health care seemed satisfactory for acute illnesses, but preventive health care was almost totally lacking. Treatment for the musuculoskeletal system and availability of adaptive devices were less adequate than for children with cerebral palsy.
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PMID:Medical and functional status of adults with cerebral palsy. 856 65

This study examines the prevalence of cerebral palsy (CP) in two north-east Italian provinces, Padua and Rovigo (overall population 1030 000). Six-hundred and ten children with a diagnosis of CP (330 male, 280 female), born between 1965 and 1989, were studied. The prevalence of CP progressively increased from the 1960s to the mid-1980s, and then decreased in the 5-year period, 1985 to 1989. These quantitative changes were associated with qualitative ones. For example, the number of low-birthweight (LBW) infants progressively increased, similar to results of epidemiological studies from other European countries. The clinical features of the types of CP in this study (hemiplegia, diplegia, ataxic diplegia, quadriplegia, pure ataxia, dyskinesia) generally correspond with those described in other studies. However, the prevalence of quadriplegia in this study is higher. The prevalence of types of CP related to preterm birth, such as diplegia, increased over the years, while those associated with term babies, such as dyskinesia, decreased. This study suggests that prenatal factors are associated with some types of CP, while in others, such as diplegia, quadriplegia, and dyskinesia, the perinatal factors are notable. Perinatal factors were associated with LBW children, while prenatal factors were greater for normal-birthweight infants. The variation in the prevalence of CP over the years, with two peaks corresponding with the introduction of neonatal intensive care units in Padua and Rovigo, suggests that changes in neonatal care could influence the levels of CP, independent of the original presence of predisposing prenatal factors.
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PMID:Prevalence of cerebral palsy in north-east Italy from 1965 to 1989. 1006 47

Animal models of neurological deficits are essential for the assessment of new therapeutic options. It has been suggested that rats are not as appropriate as primates for the symptomatic modelling of disease, but a large body of data argues against this view. Comparative analyses of movements in rats and primates show homology of many motor patterns across species. Advances have been made in identifying rat equivalents of akinesia, tremor, postural deficits and dyskinesia, which are relevant to Parkinson's disease. Rat models of hemiplegia, neglect and tactile extinction are useful in assessing the outcome of ischaemic or traumatic brain injury, and in monitoring the effects of therapeutic interventions. Studies in rodents that emphasize careful behavioural analysis should continue to be developed as effective and inexpensive models that complement studies in primates.
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PMID:Animal models of neurological deficits: how relevant is the rat? 1209 13

The Manual Ability Classification System (MACS) has been developed to classify how children with cerebral palsy (CP) use their hands when handling objects in daily activities. The classification is designed to reflect the child's typical manual performance, not the child's maximal capacity. It classifies the collaborative use of both hands together. Validation was based on the experience within an expert group, a review of the literature, and thorough analysis of children across a spectrum of function. Discussions continued until consensus was reached, first about the constructs, then about the content of the five levels. Parents and therapists were interviewed about the content and the description of levels. Reliability was tested between pairs of therapists for 168 children (70 females, 98 males; with hemiplegia [n=52], diplegia [n=70], tetraplegia [n=19], ataxia [n=6], dyskinesia [n=19], and unspecified CP [n=2]) between 4 and 18 years and between 25 parents and their children's therapists. The results demonstrated that MACS has good validity and reliability. The intraclass correlation coefficient between therapists was 0.97 (95% confidence interval 0.96-0.98), and between parents and therapist was 0.96 (0.89-0.98), indicating excellent agreement.
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PMID:The Manual Ability Classification System (MACS) for children with cerebral palsy: scale development and evidence of validity and reliability. 1678 Jun 21

An ongoing population-based register of cerebral palsy (CP) in the West of Ireland was established in 2002 to calculate the prevalence of CP and to monitor CP epidemiological trends in the area. Children were only included if they were at least 5 years of age; children with postneonatal CP were also included. Eighty-five children were identified, giving an overall prevalence for the period 1990 to 1999 of 1.88 per 1000 neonatal survivors (95% confidence interval 1.5-2.4). Males accounted for 68% (n=51) and females for 32% (n=24) of all cases. Among infants weighing less than 1500g at birth, the rate of CP was 39/1000 neonatal survivors compared with 1.3/1000 for infants weighing more than 2500g. The most common CP subtype was bilateral spastic CP (51%), followed by hemiplegia (32%), dyskinesia (9%), and ataxia (7%). Eighteen per cent of all children were unable to walk, 21% had a sensory impairment, and 56% had an intellectual impairment.
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PMID:Prevalence of cerebral palsy in the West of Ireland 1990-1999. 1704 56

The aim of this study was to explore motor development in children with cerebral palsy (CP) using developmental curves for CP, subtypes, and the five severity levels of the Gross Motor Function Classification System (GMFCS). The Gross Motor Function Measure (GMFM) and the GMFCS were applied to 317 children (145 females, 172 males) with CP, aged between 1 and 15 years. The CP type distribution was spastic diplegia in 157 (49%), spastic hemiplegia in 101 (33%), spastic tetraplegia in 11 (3%), dyskinesia in 38 (12%), and ataxia in 10 (3%). Forty-five physiotherapists were trained in the GMFM and intra- and interrater reliability was tested. The GMFM was measured prospectively every 6 months up to the age of 4 years and once a year thereafter. Developmental curves were constructed for 258 children with spastic CP. About three-quarters of the children at GMFCS Level I reached 90% of the maximum GMFM score at 5 years of age. The performance peaked at 7 years of age. Children at GMFCS Level II reached 90% at a median age of 5 years, which was also the upper limit, reached by about three-quarters at 7 years of age. The majority of children at GMFCS Level III reached 80% of the GMFM by 7 years of age and most of the children at GMFCS Level IV reached 30% at 5 years and remained there. The median score for children at GMFCS Level V was 20%. The intra- and interrater reliability for the GMFM 88 among physiotherapists were Spearman's rank correlation coefficient 0.91 and 0.99 respectively. There were 931 measurements with a median of 2 (1-11) per child. The gross motor development was demonstrated for the five GMFCS levels in children with spastic CP. These kind of curves may be useful for monitoring and predicting motor development, for planning treatment, and for evaluating outcome after interventions.
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PMID:The natural history of gross motor development in children with cerebral palsy aged 1 to 15 years. 1788 Jun 38

We describe the cognitive profile in a complete national cohort of children with cerebral palsy (CP). One hundred and twenty-seven Icelandic children (67 females, 60 males) with CP, born between 1985 and 2000 and assessed between the ages of 4 and 6 years 6 months (mean age 5y 5mo, SD 6mo), were included in the study. IQ was measured using the Wechsler Preschool and Primary Scale of Intelligence (WPPSI) and developmental quotient (DQ) was obtained using various developmental scales. Physiological classification of CP in the children was: spasticity, n=104 (82%); dyskinesia, n=14 (11%); ataxia, n=six (4.7%), and unclassified CP, n=3 (2.3%). Spastic diplegia was the most prevalent subtype (35%) followed by hemiplegia and quadriplegia. Forty-five per cent of the group were at Level I of the Gross Motor Function Classification System, 32% were at Levels II and III, and 23% were at Levels IV and V. Sixty per cent of the children had an IQ or DQ >70. Median scores on the WPPSI were Full-scale IQ 84, Verbal IQ (VIQ) 92, and Performance IQ (PIQ) 77. Children with spastic diplegia and quadriplegia had a significantly lower PIQ than VIQ. Of the children who failed to complete the WPPSI, 20% had DQ >85. Thus, cognitive skills can be masked by limitations of movement and motor control in children with CP.
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PMID:Cognitive profile in young Icelandic children with cerebral palsy. 1835 34

The objectives of this study were to determine prognostic predictors for ambulation among Thai children with cerebral palsy and identify their ambulatory status. A retrospective cohort study was performed at 6 special schools or hospitals for children with physical disabilities. The prognostic predictors for ambulation were analyzed by multivariable ordinal continuation ratio logistic regression. The 533 participants aged 2 to 18 years were divided into 3 groups: 186 with independent ambulation (Gross Motor Function Classification System [GMFCS I-II]), 71 with assisted ambulation (Gross Motor Function Classification System III), and 276 with nonambulation (Gross Motor Function Classification System IV-V). The significant positive predictors for ambulation were type of cerebral palsy (spastic diplegia, spastic hemiplegia, dyskinesia, ataxia, hypotonia, and mixed type), sitting independently at age 2 years, and eating independently. These predictors were used to develop clinical scoring for predicting the future ability to walk among Thai children with cerebral palsy.
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PMID:Prognostic Predictors for Ambulation in Thai Children With Cerebral Palsy Aged 2 to 18 Years. 2592 62

Loss-of-function and hypomorphic ECHS1 variants are associated with mitochondrial short-chain enoyl-CoA hydratase deficiency, an inborn error of valine metabolism. We report an 8-year-old boy with developmental delay, ataxia, hemiplegia, and hearing loss with abnormalities in the basal ganglia. Biochemical studies were essentially normal except for a persistent mildly elevated CSF alanine. This patient demonstrates an intermediate phenotype between a Leigh-like, early-onset presentation and paroxysmal exercise-induced dyskinesia. Two novel ECHS1 variants (c.79T>G; p.Phe27Val and c.789_790del; p.Phe263fs) were identified via exome sequencing in the proband, and pathogenicity was confirmed by enzyme assay performed on patient fibroblasts. Neither of the ECHS1 variants detected in the child were present in the mother. However, due to nearby polymorphisms, it was possible to determine that p.Phe263fs occurred de novo on the maternal chromosome and that p.Phe27Val likely derived from the paternal chromosome. Nearby polymorphisms can help set phase of variants when only a single parent is available for testing or when an identified variant occurs de novo.
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PMID:Extrapolation of Variant Phase in Mitochondrial Short-Chain Enoyl-CoA Hydratase (ECHS1) Deficiency. 2992 89


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