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An update on the prevalence of cerebral palsy: a systematic review and meta‐analysis
The aim of this study was to provide a comprehensive update on (1) the overall prevalence of cerebral palsy (CP); (2) the prevalence of CP in relation to birthweight; and (3) the prevalence of CP inExpand
An expanded version of the Hammersmith Functional Motor Scale for SMA II and III patients
TLDR
The expanded Hammersmith Functional Motor Scale allows assessment of high functioning SMA type II and III patients and justification with established motor function measures justify use in future SMA clinical trials. Expand
Screening for Developmental Delay in the Setting of a Community Pediatric Clinic: A Prospective Assessment of Parent-Report Questionnaires
TLDR
Two important conclusions were reached: parent-completed questionnaires can be feasibly used in the setting of a pediatric clinic; and the pediatrician's opinion had little effect in ameliorating the accuracy of either questionnaire. Expand
Observational study of spinal muscular atrophy type I and implications for clinical trials
TLDR
Infants with SMA-I can be effectively enrolled and retained in a 12-month natural history study until a majority reach the combined endpoint of death, and these outcome data can be used for clinical trial design. Expand
Clinical spectrum of mitochondrial DNA depletion due to mutations in the thymidine kinase 2 gene.
TLDR
The clinical spectrum of TK2 mutations is not limited to severe infantile myopathy with motor regression and early death but includes spinal muscular atrophy type 3-like presentation, rigid spine syndrome, and subacute myopathy without motor regress and with longer survival. Expand
Practice guideline recommendations summary: Treatment of tics in people with Tourette syndrome and chronic tic disorders
TLDR
Recommendations on the assessment for and use of deep brain stimulation in adults with severe, treatment-refractory tics are provided as well as suggestions for future research. Expand
Developmental screening.
TLDR
The properties of screening tests are described, the available tools for developmental screening are evaluated while providing a representative sample of the currently available developmental tests, and the efficacy of intervention programs are evaluated. Expand
Factors Predictive of Outcome in Childhood Epilepsy
TLDR
It appears that response in the first 6 to 12 months on antiepileptic medication is predictive of outcome and clinical features of the underlying epilepsy and concurrent neurologic conditions were independently associated with intractability and a lower probability of remission. Expand
Natural history of MELAS associated with mitochondrial DNA m.3243A>G genotype
TLDR
Patients with MELAS carrying the m.3243A>G mutation show a measurable decline in clinical and imaging outcomes, and it is hoped that these data will be helpful in anticipating the disease course and in planning clinical trials for M ELAS. Expand
Neurofilament as a potential biomarker for spinal muscular atrophy
TLDR
The objective was to evaluate plasma phosphorylated neurofilament heavy chain (pNF‐H) as a biomarker in spinal muscular atrophy (SMA) and to establish an experimental procedure to evaluate its role in SMA. Expand
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