Congenital anomalies in children with cerebral palsy: a population-based record linkage study.
ABSTRACT Our aim was to determine the proportion of children with cerebral palsy (CP) who have a congenital anomaly (CA) in three regions (Isère Region, French Alps; Funen County, Denmark; Northern Region, England) where population-based CP and CA registries exist, and to classify the children according to CA subtype.
Data for children born between 1991 and 1999 were linked using electronic matching of cases. All potential matches were checked manually by each centre and verified as true matches.
A total of 1104 children with CP were born during the study period (663 males, 441 females). Of these, 166 (15%; 95% Confidence Interval [CI] 13.0-17.3) children with CP had a CA: 8.8% had a cerebral anomaly, 4.8% had a non-cerebral anomaly, and 1.4% had a non-cerebral-related syndrome or a chromosomal/genetic anomaly.
The prevalence of cerebral anomaly was highest in children with ataxic CP (41.7%) and lowest in those with dyskinetic CP (2.1%). Cerebral anomalies were found in 8.4% and 7% of children with bilateral and unilateral spastic CP respectively. The most frequent cerebral anomalies were primary microcephaly (26.5%) and congenital hydrocephalus (17.3%). The most common non-cerebral anomalies recorded were cardiac (12.6% of children with CP and CA), urinary (5.4%), and musculoskeletal (5.4%). The prevalence of cerebral anomalies was higher among children born at term (13%) than among those born preterm (3.8%). Associated sensorineural or intellectual impairments occurred more often in children with CP and cerebral anomalies. We concluded that cerebral and non-cerebral CA prevalence was higher among the CP population than in the general population of live births.
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ABSTRACT: An ongoing challenge in children presenting with motor delay/impairment early in life is to identify neurogenetic disorders with a clinical phenotype, which can be misdiagnosed as cerebral palsy (CP). To help distinguish patients in these two groups, conventional magnetic resonance imaging of the brain has been of great benefit in "unmasking" many of these genetic etiologies and has provided important clues to differential diagnosis in others. Recent advances in molecular genetics such as chromosomal microarray and next-generation sequencing have further revolutionized the understanding of etiology by more precisely classifying these disorders with a molecular cause. In this paper, we present a review of neurogenetic disorders masquerading as cerebral palsy evaluated at one institution. We have included representative case examples children presenting with dyskinetic, spastic, and ataxic phenotypes, with the intent to highlight the time-honored approach of using clinical tools of history and examination to focus the subsequent etiologic search with advanced neuroimaging modalities and molecular genetic tools. A precise diagnosis of these masqueraders and their differentiation from CP is important in terms of therapy, prognosis, and family counseling. In summary, this review serves as a continued call to remain vigilant for current and other to-be-discovered neurogenetic masqueraders of cerebral palsy, thereby optimizing care for patients and their families.NeuroMolecular Medicine 10/2014; DOI:10.1007/s12017-014-8331-9 · 3.89 Impact Factor
Article: Cerebral palsy[Show abstract] [Hide abstract]
ABSTRACT: The syndrome of cerebral palsy encompasses a large group of childhood movement and posture disorders. Severity, patterns of motor involvement, and associated impairments such as those of communication, intellectual ability, and epilepsy vary widely. Overall prevalence has remained stable in the past 40 years at 2-3·5 cases per 1000 livebirths, despite changes in antenatal and perinatal care. The few studies available from developing countries suggest prevalence of comparable magnitude. Cerebral palsy is a lifelong disorder; approaches to intervention, whether at an individual or environmental level, should recognise that quality of life and social participation throughout life are what individuals with cerebral palsy seek, not improved physical function for its own sake. In the past few years, the cerebral palsy community has learned that the evidence of benefit for the numerous drugs, surgery, and therapies used over previous decades is weak. Improved understanding of the role of multiple gestation in pathogenesis, of gene environment interaction, and how to influence brain plasticity could yield significant advances in treatment of the disorder. Reduction in the prevalence of post-neonatal cerebral palsy, especially in developing countries, should be possible through improved nutrition, infection control, and accident prevention.The Lancet 11/2013; 383(9924). DOI:10.1016/S0140-6736(13)61835-8 · 39.21 Impact Factor
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ABSTRACT: Children diagnosed with cerebral palsy (CP) appear to be at high risk for developing neurobehavioral and motor disorders. The most common disorders for these children are impaired visual-perception skills and motor planning. Besides, they often have impaired executive functions, which can contribute to problematic emotional adjustment such as depression. Additionally, literature suggests that the tendency to develop these cognitive impairments and emotional abnormalities in pediatric CP is influenced by age and IQ. Because there are many other medical co-morbidities that can occur with CP (e.g., seizures and shunt placement), prediction of what percentages of patients will incur cognitive impairment and emotional abnormality is a difficult task. The purpose of this study was to investigate the associations between possible factors mentioned above, and neurobehavioral and motor disorders from a clinical database of pediatric subjects diagnosed with CP. The study resulted in 22 rules that can predict negative outcomes. These rules reinforced the growing body of literature supporting a link between CP, executive dysfunction, and subsequent neurobehavioral problems. The antecedents and consequents of some association rules were single factors, while other statistical associations were interactions of factor combinations. Further research is needed to include children's comprehensive treatment and medication history in order to determine additional impacts on their neurobehavioral and motor disorders.Healthcare Informatics (ICHI), 2013 IEEE International Conference on; 01/2013