Prevalence and pathogenesis of congenital anomalies in cerebral palsy

Pharoah, P. O. D.

doi:10.1136/adc.2006.107375

Cited by 49 publications

(42 citation statements)

References 29 publications

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“…[18][19][20][21] A study based on the CP Register and the Birth Defect Registry of Western Australia reported that 15.8% of children with CP had non-CNS anomalies. 19 Pharaoh 21 demonstrated an increase in eye anomalies, cardiac anomalies, cleft lip and ⁄ or palate, congenital dislocation of the hip and talipes, and atresias of the oesophagus and intestines in children with CP.…”

Section: Discussionmentioning

confidence: 99%

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Congenital non‐central nervous system malformations in cerebral palsy: a distinct subset?

Self

Dagenais

Shevell

2012

Develop Med Child Neuro

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AIM The aim of this article was to identify and contrast the subset of children with cerebral palsy (CP) and non-central nervous system (CNS) congenital malformations with children with CP but no coexisting non-CNS congenital malformations.METHOD A population-based regional comprehensive CP registry was used to identify children with CP who had non-CNS congenital malformations (n=34; 19 males, 15 females; 22 classified as Gross Motor Function Classification System [GMFCS] levels I-III, 12 as GMFCS level IV or V). Their clinical features were then compared with other children with CP without non-CNS congenital malformations (n=207; 115 males, 92 females; 138 classified as GMFCS levels I-III, 69 as GMFCS level IV or V).RESULTS Children with CP and non-CNS congenital malformations did not differ from those without in terms of neurological subtype distribution or functional severity, as measured by the GMFCS. Also, there was no association with previous maternal infections (i.e. toxoplasmosis, rubella, cytomegalovirus, herpes simplex virus 2 [TORCH]), maternal fever, use of illicit substances, asphyxia, neonatal encephalopathy, intraventricular haemorrhage, or septicaemia. The incidence of comorbidities such as convulsions, communication difficulties, gavage feeding, cortical blindness, and auditory impairment was not higher in this subgroup. INTERPRETATIONThe incidence of congenital non-CNS malformations among children with CP is appreciable. Children with these non-CNS malformations do not appear to differ from other children with CP regarding neurological subtype, functional severity, and comorbidities, or maternal or obstetrical factors. Thus, the specific presence of a non-CNS congenital malformation does not appear to assist the practitioner in the management or understanding of a child's CP.Cerebral palsy (CP) remains a significant cause of motor impairment in childhood, 1 affecting 0.15 to 0.25% of children (i.e. 1.5-2.5 ⁄ 1000 live births).2 CP is a neuromotor disability that originates from an anomaly and ⁄ or damage to the motor regions of the brain, leading to the early onset of observable motor dysfunction.3,4 CP can also be associated with non-motor impairments and disorders such as epilepsy, difficulties with feeding and communication, vision and hearing loss, cognitive disability, behavioural disturbances, and orthopaedic difficulties. 5,6 The aetiology of CP can be divided into two broad categories: (1) congenital anomalies ⁄ dysgenesis of the brain and (2) acquired brain injury. Congenital brain anomalies have been shown to be associated with low birthweight, low gestational age, and prenatal infections. Brain injury can be acquired following prenatal or birth ischaemia ⁄ asphyxia, central nervous system (CNS) trauma, haemorrhage, stroke, or infection. 5The objective of this study was to use a regional populationbased registry to compare risk factors, clinical presentation, and associated comorbidities of children with CP with an associated non-CNS congenital malformation with those without. The no...

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Section: Discussionmentioning

confidence: 99%

“…[18][19][20][21] Different hypotheses are postulated for this linkage. One theory is that congenital non-CNS malformations and CP are a result of the same maternal cause.…”

Section: Discussionmentioning

confidence: 99%

Congenital non‐central nervous system malformations in cerebral palsy: a distinct subset?

Self

Dagenais

Shevell

2012

Develop Med Child Neuro

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“…CP is caused by damage to the motor control and cognitive centers of the developing brain and can occur during pregnancy (approximately 75%), during childbirth (approximately 5%), or after birth (approximately 20%; Thorngren-Jerneck & Herbst, 2006). The incidence of CP is approximately 2 per 1,000 live births in industrialized countries; incidence is higher in boys than in girls (Pharoah, 2007;Strauss, Brooks, Rosenbloom, & Shavelle, 2008).…”

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confidence: 99%

Predicting the Effects of Cerebral Palsy Severity on Self-Care, Mobility, and Social Function

Phipps

Roberts

2012

The American Journal of Occupational Therapy

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In this retrospective, longitudinal cohort study, the Pediatric Evaluation of Disability Inventory was used to predict the effects of cerebral palsy (CP) on self-care, mobility, and social function for 2,768 children, adolescents, and young adults with CP. Multiple linear regression was used to predict functional performance and level of caregiver assistance and found that CP severity, as measured by the Gross Motor Function Classification System and the Manual Ability Classification System, had the strongest effect. More severe levels of gross motor and fine motor dysfunction resulted in lower levels of self-care, mobility, and social function and increased levels of caregiver assistance. This study provides critical evidence regarding the importance of CP severity as a predictor of self-care, mobility, and social function that can be tested in future research to improve therapy treatment planning, caregiver education, and clinical resource utilization.

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“…[30][31][32] In 3 Class III (n ϭ 338) studies, the combined prevalence of congenital and postnatal onset microcephaly ranged from 32.5% to 81% and averaged 47.9%. [33][34][35] In one of these studies (n ϭ 96), 68% were diagnosed with postnatal onset microcephaly and 13% had congenital microcephaly.…”

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confidence: 99%

Practice Parameter: Evaluation of the child with microcephaly (an evidence-based review) [RETIRED]

et al. 2009

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Objective: To make evidence-based recommendations concerning the evaluation of the child with microcephaly. Methods:Relevant literature was reviewed, abstracted, and classified. Recommendations were based on a 4-tiered scheme of evidence classification. Results:Microcephaly is an important neurologic sign but there is nonuniformity in its definition and evaluation. Microcephaly may result from any insult that disturbs early brain growth and can be seen in association with hundreds of genetic syndromes. Annually, approximately 25,000 infants in the United States will be diagnosed with microcephaly (head circumference ϽϪ2 SD). Few data are available to inform evidence-based recommendations regarding diagnostic testing. The yield of neuroimaging ranges from 43% to 80%. Genetic etiologies have been reported in 15.5% to 53.3%. The prevalence of metabolic disorders is unknown but is estimated to be 1%. Children with severe microcephaly (head circumference ϽϪ3 SD) are more likely (ϳ80%) to have imaging abnormalities and more severe developmental impairments than those with milder microcephaly (Ϫ2 to Ϫ3 SD; ϳ40%). Coexistent conditions include epilepsy (ϳ40%), cerebral palsy (ϳ20%), mental retardation (ϳ50%), and ophthalmologic disorders (ϳ20% to ϳ50%).Recommendations: Neuroimaging may be considered useful in identifying structural causes in the evaluation of the child with microcephaly (Level C). Targeted and specific genetic testing may be considered in the evaluation of the child with microcephaly who has clinical or imaging abnormalities that suggest a specific diagnosis or who shows no evidence of an acquired or environmental etiology (Level C). Screening for coexistent conditions such as cerebral palsy, epilepsy, and sensory deficits may also be considered (Level C). Further study is needed regarding the yield of diagnostic testing in children with microcephaly. Neurology Microcephaly is an important neurologic sign but there is nonuniformity in the definition of microcephaly and inconsistency in the evaluation of affected children.1,2 Microcephaly is usually defined as a head circumference (HC) more than 2 SDs below the mean for age and gender.2,3 Some academics have advocated for defining severe microcephaly as an HC more than 3 SDs below the mean.4-7 Other than where specified, this parameter uses the usual definition of microcephaly. Recommended methods for HC measurement are described in appendix 2.If HC is normally distributed, 2.3% of children should by definition be microcephalic. However, published estimates for HC ϽϪ2 SD at birth are far lower, at 0.56% 8 and 0.54%. 9 The difference may be accounted for by a non-normal distribution, postnatal development of microcephaly, or incomplete ascertainment. Severe microcephaly would be expected Appendices e-1 through e-6 and references e1-e12 are available on the Neurology Web site at www.neurology.org.

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Prevalence and pathogenesis of congenital anomalies in cerebral palsy

Abstract: Congenital anomalies in children with CP are found much more frequently than expected by chance. A common pathogenic mechanism may account for the coexistence of disparate congenital anomalies. A hypothesis is proposed for such a common pathogenic mechanism.

Cited by 49 publications

References 29 publications

Congenital non‐central nervous system malformations in cerebral palsy: a distinct subset?

Congenital non‐central nervous system malformations in cerebral palsy: a distinct subset?

Predicting the Effects of Cerebral Palsy Severity on Self-Care, Mobility, and Social Function

Practice Parameter: Evaluation of the child with microcephaly (an evidence-based review) [RETIRED]

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