Results 101 to 110 of about 32,885 (238)

Descrição atualizada da paralisia cerebral

Developmental Medicine &Child Neurology, EarlyView.
Resumo A paralisia cerebral (PC) é um termo descritivo amplamente utilizado para um espectro de deficiências motoras causadas por lesão ou malformação cerebral não progressiva ocorrida durante as fases iniciais do desenvolvimento. Avanços recentes nas áreas da genética, de pesquisa em inflamação e em neurofisiologia têm refinado a compreensão ...
Bernard Dan, Peter Rosenbaum, Lucinda Carr, Martin Gough, John Coughlan, Nonyelum Nweke   +5 more
wiley   +1 more source

Reliability and stability of cerebral palsy classification scales for individuals with STXBP1‐ and SYNGAP1‐related disorders

Developmental Medicine &Child Neurology, EarlyView.
Aim To determine the interrater reliability and stability of the Gross Motor Function Classification System (GMFCS), Manual Ability Classification System (MACS)/Mini‐MACS, and Communication Function Classification System (CFCS) in individuals with STXBP1‐ and SYNGAP1‐related disorders.
Samuel R. Pierce, Julie M. Orlando, Kristin G. Cunningham, Sarah M. Ruggiero, Michael C. Kaufman, Jillian L. McKee, Ingo Helbig   +6 more
wiley   +1 more source

Sleep profiles in individuals with rare neurogenetic syndromes

Developmental Medicine &Child Neurology, EarlyView.
Aim To characterize sleep profiles in individuals with neurogenetic disorders (NGDs) and examine the contribution of key clinical and psychiatric symptoms to these profiles. Method The parents of 248 individuals (aged 3–45 years) diagnosed with a range of NGDs, including PTEN hamartoma tumor syndrome (n = 111), SYNGAP1‐related intellectual disability ...
Isabella C. Reyes, Thomas W. Frazier, Antonio Y. Hardan, Lacey Chetcuti, Samuel J. R. A. Chawner, Emily Spackman, Mirko Uljarević, Emma K. Baker   +7 more
wiley   +1 more source

Semiological features of epilepsy seizures and paroxysmal non‐epileptic events in children: A systematic review and meta‐analysis

Developmental Medicine &Child Neurology, EarlyView.
Pediatric paroxysmal non‐epileptic events (PNEs) are frequently misdiagnosed as epilepsy. We systematically reviewed and synthesized 40 studies, including 3123 video‐EEG monitored pediatric patients. Epileptic seizures in infants (1 month–3 years) typically presented as arrest, while in children and adolescents (1 month–21 years) they manifested as ...
Tímea Lőrincz‐Molnár, Márk Viktor Hernádfői, Krisztina Szalkay, Réka Tóth, Marie Anne Engh, Péter Kiss, Miklós Garami, Péter Hegyi, András Fogarasi   +8 more
wiley   +1 more source

Intervention outcomes of children with non‐degenerative dystonia and associated hyperkinetic movement disorders: A scoping review

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To identify the outcomes reported in published studies of intervention approaches used with non‐degenerative childhood hyperkinetic movement disorders, including dystonia, dyskinesia, hypertonia, athetosis, chorea, cerebral palsy, involuntary movement, and kernicterus, and map them to the International Classification of Functioning ...
Hortensia Gimeno, Hannah Scott, Rocio Muñoz Sanchez, Alice Doohan, Deepti Chugh, Adrienne Harvey, Kirsty Stewart, Peter Rosenbaum, Grace Stynes, Khamani Edwards, Katherine Knighting   +10 more
wiley   +1 more source

Genetic testing in paediatric neurological disorders

Developmental Medicine &Child Neurology, EarlyView.
In this study 390 paediatric patients with neurological disorders underwent genetic testing via exome sequencing, commercial panel, in‐house epilepsy, and movement disorder gene panels. Exome sequencing provides the highest diagnostic yield, and severe developmental delay and hypotonia predicted pathogenic variants in the exome sequencing cohort ...
Wafa Bani Uraba, Byoung Chan Lee, Shekeeb S. Mohammad, Katrina Fisk, Michael Buckley, Russell C. Dale, Tony Roscioli, Paediatric Neurogenomic Working Group, Manoj P. Menezes, Sachin Gupta, Christopher Troedson, Esther Tantsis, Richard Webster, Bruce Bennetts, Deepak Gill, Kavitha Kothur   +15 more
wiley   +1 more source

The Rhythmic and the Metronomic: On Charlie Chaplin's Gait

Critical Quarterly, EarlyView.
Matthew Beaumont
wiley   +1 more source

A Cross‐Nationally Validated Nomogram for Cardiometabolic Multimorbidity in Overweight/Obese Older Adults: CHARLS and HRS Cohorts

Diabetes, Obesity and Metabolism, EarlyView.
ABSTRACT Aims Middle‐aged and older adults with overweight or obesity are at increased risk of cardiometabolic multimorbidity (CMM), yet validated prediction tools tailored to this population remain limited. This study aimed to develop and validate a multidimensional nomogram integrating metabolic, functional and psychological predictors. Materials and
Yanhan Wei, Siyi He, Huizhen Chen, Yanzhong Wang   +3 more
wiley   +1 more source

Proneness to infections and familial risk of tic disorders. [PDF]

Psychol Med
Pol-Fuster J, Vasiljevic S, Fernández de la Cruz L, Beucke JC, Hesselmark E, Crowley JJ, Brikell I, de Schipper E, D'Onofrio BM, Chang Z, Larsson H, Tedroff K, Lichtenstein P, Kuja-Halkola R, Idring S, Mataix-Cols D.   +15 more
europepmc   +1 more source

Spatially resolved mapping of histones reveals selective neuronal response in Rett syndrome

The FEBS Journal, EarlyView.
Loss of Mecp2 function is associated with Rett syndrome (RTT). MeCP2 regulates chromatin, yet its influence on histone composition and dynamics is unclear. Combining MALDI‐MSI with LCM–LC–MS/MS, we mapped histone proteoforms across the dentate gyrus, cornu ammonis, and cerebellum in two mouse models of RTT.
Frederike Schäfer, Giuseppina De Rocco, Moritz Völker‐Albert, Ignasi Forne, Nicoletta Landsberger, Axel Imhof, Shibojyoti Lahiri   +6 more
wiley   +1 more source