Deep brain stimulation in cerebral palsy: Challenges and opportunities

Koy, Anne; Timmermann, Lars

doi:10.1016/j.ejpn.2016.05.015

Cited by 45 publications

(46 citation statements)

References 39 publications

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“…Based on this systematic review, there is still no strong evidence to prove (or disprove) the efficacy of available oral drugs in dyskinetic CP. Beside the need of prospective well‐designed trials to study these medications, future research should systematically investigate the efficacy of other therapeutic options, such as intrathecal baclofen and deep brain stimulation, possibly at an earlier age when treatment might be more effective, as suggested by emerging data …”

Section: Resultsmentioning

confidence: 99%

Efficacy of oral pharmacological treatments in dyskinetic cerebral palsy: a systematic review

Masson

Pagliano

Baranello

2017

Develop Med Child Neuro

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Evidence to prove (or disprove) the efficacy of oral drugs in dyskinetic cerebral palsy is low. The most investigated drugs, trihexyphenidyl and levodopa, show contradictory results. Tetrabenazine, levetiracetam, and gabapentin efficacy should be studied in more detail. Lack of evidence is partially due to the inconsistency of classifications and outcome measures used. Outcome measures should be selected within the framework of the International Classification of Functioning, Disability and Health in next clinical trials.

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Section: Resultsmentioning

confidence: 99%

Efficacy of oral pharmacological treatments in dyskinetic cerebral palsy: a systematic review

Masson

Pagliano

Baranello

2017

Develop Med Child Neuro

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“…9,13 Patients with GNAO1 variants have often been mistakenly diagnosed with secondary movement disorders, which derive much lower benefit from deep brain stimulation, 31 in contrast to a GNAO1-related disorder. When GNAO1 variants are identified in individuals, it is most often by WES rather than by targeted testing.…”

Section: Discussionmentioning

confidence: 99%

Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate–binding region

et al. 2019

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Summary Objective To characterize the phenotypic spectrum associated with GNAO1 variants and establish genotype‐protein structure‐phenotype relationships. Methods We evaluated the phenotypes of 14 patients with GNAO1 variants, analyzed their variants for potential pathogenicity, and mapped them, along with those in the literature, on a three‐dimensional structural protein model. Results The 14 patients in our cohort, including one sibling pair, had 13 distinct, heterozygous GNAO1 variants classified as pathogenic or likely pathogenic. We attributed the same variant in two siblings to parental mosaicism. Patients initially presented with seizures beginning in the first 3 months of life (8/14), developmental delay (4/14), hypotonia (1/14), or movement disorder (1/14). All patients had hypotonia and developmental delay ranging from mild to severe. Nine had epilepsy, and nine had movement disorders, including dystonia, ataxia, chorea, and dyskinesia. The 13 GNAO1 variants in our patients are predicted to result in amino acid substitutions or deletions in the GNAO1 guanosine triphosphate (GTP)‐binding region, analogous to those in previous publications. Patients with variants affecting amino acids 207‐221 had only movement disorder and hypotonia. Patients with variants affecting the C‐terminal region had the mildest phenotypes. Significance GNAO1 encephalopathy most frequently presents with seizures beginning in the first 3 months of life. Concurrent movement disorders are also a prominent feature in the spectrum of GNAO1 encephalopathy. All variants affected the GTP‐binding domain of GNAO1, highlighting the importance of this region for G‐protein signaling and neurodevelopment.

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“…New work is differentiating the relative impact of dystonia on function compared to choreoathetosis and this reveals that dystonia is the most important factor associated with neurodisability (91). These studies must be augmented with new, clinically relevant studies to help parents and carers, children, and young people make appropriate decisions in relation to complex neurosurgical interventions such as DBS (where appropriate) (92–95). But for any field to prosper we must be prepared to look elsewhere for examples of success and also applications of successful neuromodulation interventions, for instance, in the management of chronic pain (96) and bladder and bowel incontinence (97) where neuromodulation can make a significant positive impact.…”

Section: Developing Coherent Networked Research Strategies For Diagnmentioning

confidence: 99%

Recognizing the Common Origins of Dystonia and the Development of Human Movement: A Manifesto of Unmet Needs in Isolated Childhood Dystonias

Lin

Nardocci

2016

Front. Neurol.

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Dystonia in childhood may be severely disabling and often unremitting and unrecognized. Considered a rare disorder, dystonic symptoms in childhood are pervasive in many conditions including disorders of developmental delay, cerebral palsy (CP), autism, neurometabolic, neuroinflammatory, and neurogenetic disorders. Collectively, there is a need to recognize the role of early postures and movements which characterize phases of normal fetal, infant, and child development as a backdrop to the many facets of dystonia in early childhood neurological disorders and to be aware of the developmental context of dystonic symptoms. The role of cocontraction is explored throughout infancy, childhood, young adulthood, and in the elderly. Under-recognition of pervasive dystonic disorders of childhood, including within CP is reviewed. Original descriptions of CP by Gowers are reviewed and contemporary physiological demonstrations are used to illustrate support for an interpretation of the tonic labyrinthine response as a manifestation of dystonia. Early recognition and molecular diagnosis of childhood dystonia where possible are desirable for appropriate clinical stratification and future precision medicine and functional neurosurgery where appropriate. A developmental neurobiological perspective could also be useful in exploring new clinical strategies for adult-onset dystonia disorders focusing on environmental and molecular interactions and systems behaviors.

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Deep brain stimulation in cerebral palsy: Challenges and opportunities

Cited by 45 publications

References 39 publications

Efficacy of oral pharmacological treatments in dyskinetic cerebral palsy: a systematic review

Efficacy of oral pharmacological treatments in dyskinetic cerebral palsy: a systematic review

Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate–binding region

Recognizing the Common Origins of Dystonia and the Development of Human Movement: A Manifesto of Unmet Needs in Isolated Childhood Dystonias

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