Definition and diagnosis of cerebral palsy in genetic studies: a systematic review

Pham, Ryan; Mol, Ben W.; Gécz, Jozef; MacLennan, Alastair H.; MacLennan, Suzanna C; Corbett, Mark; Eyk, Clare L. van; Webber, Dani L.; Palmer, Lyle J.; Berry, Jesia G.

doi:10.1111/dmcn.14585

Cited by 20 publications

(17 citation statements)

References 47 publications

(117 reference statements)

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“…However, unacceptably high levels of disagreement were found both within and between observers, which suggests that we must very much improve the way we look at and talk about motor features in cerebral palsy if we are to make sense of the diagnostic concept to help patients appropriately. Further progress in genetic evaluation of cerebral palsy also requires a stronger consensus on how cerebral palsy should be defined (11). Insights gained into the understanding of etiological factors, thanks to the results of genetic testing, offer a renewed opportunity to reflect on the usefulness of the construct of cerebral palsy, which to date remains essentially clinical.…”

Section: Technological Issuesmentioning

confidence: 99%

New Ethical Issues in Cerebral Palsy

Dan

2021

Front. Neurol.

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Current societal and technological changes have added to the ethical issues faced by people with cerebral palsy. These include new representations of disability, and the current International Classification of Functioning, Disability, and Health, changes in legislation and international conventions, as well as applications of possibilities offered by robotics, brain–computer interface devices, muscles and brain stimulation techniques, wearable sensors, artificial intelligence, genetics, and more for diagnostic, therapeutic, or other purposes. These developments have changed the way we approach diagnosis, set goals for intervention, and create new opportunities. This review examines those influences on clinical practice from an ethical perspective and highlights how a principled approach to clinical bioethics can help the clinician to address ethical dilemmas that occur in practice. It also points to implications of those changes on research priorities.

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Section: Technological Issuesmentioning

confidence: 99%

New Ethical Issues in Cerebral Palsy

Dan

2021

Front. Neurol.

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“…AGS is part of the type 1 interferonopathies. The type 1 interferon-mediated antiviral response is usually triggered by viral infections (2). In case of Aicardi-Goutières syndrome, it is hypothesized that self-nucleic acids are no longer recognized as such, leading to an inappropriate immune response with an overactive type 1 interferon signaling, even in the absence of a viral infection.…”

Section: Introductionmentioning

confidence: 99%

“…This recent insight has led to an increased interest in genetic studies to elucidate its additional causes. However, compared to other neurodevelopmental disorders, i.e., ID and autism, large genetic studies in CP are still underrepresented (2).…”

Section: Introductionmentioning

confidence: 99%

Genetic Testing Contributes to Diagnosis in Cerebral Palsy: Aicardi-Goutières Syndrome as an Example

et al. 2021

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Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by co-morbidities such as intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits. Despite the established role of hypoxic–ischemic injury in some CP cases, several studies suggest that birth asphyxia is actually an uncommon cause, accounting for <10% of CP cases. For children with CP in the absence of traditional risk factors, a genetic basis to their condition is increasingly suspected. Several recent studies indeed confirm copy number variants and single gene mutations with large genetic heterogeneity as an etiology in children with CP. Here, we report three patients with spastic cerebral palsy and a genetically confirmed diagnosis of Aicardi-Goutières syndrome (AGS), with highly variable phenotypes ranging from clinically suggestive to non-specific symptomatology. Our findings suggest that AGS may be a rather common cause of CP, that frequently remains undiagnosed without additional genetic testing, as in only one case a clinical suspicion of AGS was raised. Our data show that a diagnosis of AGS must be considered in cases with spastic CP, even in the absence of characteristic brain abnormalities. Importantly, a genetic diagnosis of AGS may have significant therapeutic consequences, as targeted therapies are being developed for type 1 interferonopathies, the group of diseases to which AGS belongs. Our findings demonstrate the importance of next generation sequencing in CP patients without an identifiable cause, since targeted diagnostic testing is hampered by the often non-specific presentation.

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“…One would expect that microarray and next‐generation sequencing studies of CP would pay particular attention to phenotypic definitions of the forms of CP linked with specific genomic and metabolic disorders. However, only 32% of 57 genetic studies of CP defined it on the basis of SCPE international guidelines 3 …”

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confidence: 99%

“…Obviously, the first suggestion is to read the study conducted by Pham et al 3 and the SCPE guidelines published in 2000 1 . Following SCPE guidelines does result in standardization.…”

mentioning

confidence: 99%