| 1. |
- MacLennan, Alastair H, et al.
(författare)
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Genetic or Other Causation Should Not Change the Clinical Diagnosis of Cerebral Palsy.
- 2019
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Ingår i: Journal of child neurology. - : SAGE Publications. - 1708-8283 .- 0883-0738. ; 38:4, s. 472-6
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Tidskriftsartikel (refereegranskat)abstract
- High throughput sequencing is discovering many likely causative genetic variants in individuals with cerebral palsy. Some investigators have suggested that this changes the clinical diagnosis of cerebral palsy and that these individuals should be removed from this diagnostic category. Cerebral palsy is a neurodevelopmental disorder diagnosed on clinical signs, not etiology. All nonprogressive permanent disorders of movement and posture attributed to disturbances that occurred in the developing fetal and infant brain can be described as "cerebral palsy." This definition of cerebral palsy should not be changed, whatever the cause. Reasons include stability, utility and accuracy of cerebral palsy registers, direct access to services, financial and social support specifically offered to families with cerebral palsy, and community understanding of the clinical diagnosis. Other neurodevelopmental disorders, for example, epilepsy, have not changed the diagnosis when genomic causes are found. The clinical diagnosis of cerebral palsy should remain, should prompt appropriate genetic studies and can subsequently be subclassified by etiology.
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| 2. |
- Stapleton, David B, et al.
(författare)
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The prevalence of recalled low back pain during and after pregnancy : a South Australian population survey
- 2002
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Ingår i: Australian and New Zealand journal of obstetrics and gynaecology. - : Wiley. - 0004-8666 .- 1479-828X. ; 42:5, s. 482-485
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Tidskriftsartikel (refereegranskat)abstract
- ObjectiveTo determine the prevalence of low back pain during pregnancy (LBPP) in an Australian Results population.DesignA representative population-based survey of women aged 15 years and older.Setting and sampleFour thousand four hundred randomly selected South Australian households were visited by trained surveyors who interviewed 1531 women (69.7% response rate) using pre-tested questions.MethodsThe South Australian Health Omnibus survey was utilised.Main outcome measuresDemographic data were collected along with details of previous pregnancies, and degree of back pain during pregnancy, treatment regimens, and persistence of back pain.ResultsThirty-five and a half per cent of women recall having at least moderately severe back pain during pregnancy. Women who reported such back pain were younger, were more likely to report ill health and be unemployed. Increasing parity was not associated with current back pain. The most commonly used treatments were bed rest, pain killing medication, physiotherapy, and chiropractic treatment. Half of those with symptoms were untreated. Sixtyeight per cent of women who experienced moderate or worse low back pain during pregnancy continued to experience recurring low back pain with a self reported reduction in their health.ConclusionsChronic low back pain is commonly associated with an onset in pregnancy subjectively contributing to long-term morbidity. The high prevalence may be an underestimate in view of the potential for recall bias in older women.
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| 3. |
- Wang, Yangong, et al.
(författare)
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Exome sequencing reveals genetic heterogeneity and clinically actionable findings in children with cerebral palsy
- 2024
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Ingår i: NATURE MEDICINE. - 1078-8956 .- 1546-170X. ; 30, s. 1395-1405
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Tidskriftsartikel (refereegranskat)abstract
- Cerebral palsy (CP) is the most common motor disability in children. To ascertain the role of major genetic variants in the etiology of CP, we conducted exome sequencing on a large-scale cohort with clinical manifestations of CP. The study cohort comprised 505 girls and 1,073 boys. Utilizing the current gold standard in genetic diagnostics, 387 of these 1,578 children (24.5%) received genetic diagnoses. We identified 412 pathogenic and likely pathogenic (P/LP) variants across 219 genes associated with neurodevelopmental disorders, and 59 P/LP copy number variants. The genetic diagnostic rate of children with CP labeled at birth with perinatal asphyxia was higher than the rate in children without asphyxia (P = 0.0033). Also, 33 children with CP manifestations (8.5%, 33 of 387) had findings that were clinically actionable. These results highlight the need for early genetic testing in children with CP, especially those with risk factors like perinatal asphyxia, to enable evidence-based medical decision-making. Using exome sequencing data from one of the largest cohorts of children with cerebral palsy, the genetic diagnostic rates of single-nucleotide and copy number variants were assessed and a sizeable fraction found to be clinically actionable.
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