Results 81 to 90 of about 18,037 (234)

Impact of Institutional Protocol on Urinary Catheter Outcome Measures in Orthopedic Children Treated With Epidural Analgesia

Pediatric Anesthesia, EarlyView.
ABSTRACT Background Epidural analgesia is commonly used for pain control after major lower‐limb orthopedic surgery in children, but it is associated with a risk of postoperative urinary retention. Consequently, urinary catheters are often placed and left in situ for the full duration of epidural analgesia, despite the potential risks of prolonged ...
Idan Katz, Tomer Talmy, Dor Barami, Tal S. Beckmann, Barry Danino, Yotam Lior, Margaret Ekstein   +6 more
wiley   +1 more source

Sphingolipid Metabolism Perturbations in Rett Syndrome

Metabolites, 2019
Rett syndrome is a severe neurodevelopmental disorder affecting mostly females and is caused by loss-of-function mutations in the MECP2 gene that encoded the methyl-CpG-binding protein 2.
Gerarda Cappuccio, Taraka Donti, Michele Pinelli, Pia Bernardo, Carmela Bravaccio, Sarah H. Elsea, Nicola Brunetti-Pierri   +6 more
doaj   +1 more source

Risk Factors for Complications Following Paediatric Neuromuscular and Syndromic Scoliosis Correction Surgery: A Systematic Review

ANZ Journal of Surgery, EarlyView.
ABSTRACT Background Paediatric neuromuscular and syndromic scoliosis patients have multiple medical comorbidities that increase the risk of postoperative complications. There is a lack of consistent literature assessing the specific risk factors for complications following scoliosis correction surgery in this high‐risk cohort.
Mai Pham, Mia A. Percival, Moya Vandeleur, Giuliana Antolovich, Kris Lundine   +4 more
wiley   +1 more source

Elucidating the Role of SET as a Key Contributor to Neurodevelopmental Disability Within the 9q34.11 Deletion Syndrome Interval

Clinical Genetics, EarlyView.
This study reports a female proband with a de novo 9q34.11 deletion affecting SET, who underwent a 28‐year diagnostic odyssey after an atypical Rett syndrome clinical diagnosis. Genomic and proteomics analyses confirmed SET haploinsufficiency, refining the critical 9q34.11 region, and supporting speech therapy benefits in improving meaningful ...
Angelo Condell, Elaine Zhang, Tim Sikora, Sean Massey, Nicole J. Van Bergen, Min Wang, Cas Simons, Katrina M. Bell, Daniella H. Hock, David A. Stroud, David Francis, Wendy A. Gold, Martin B. Delatycki, John Christodoulou, Simranpreet Kaur   +14 more
wiley   +1 more source

Role of the International Rett Syndrome Association [PDF]

, 1988
Since 1984, the International Rett Syndrome Association has brought together families of girls with Rett syndrome, disseminated information about the syndrome, and supported research efforts.
Kathy Hunter
core   +1 more source

A Case of Rett Syndrome

Paediatrica Indonesiana, 2018
A case of Rett syndrome in a-3 ½ year-old girl is presented. The patient had normal pre and perinatal period and normal psychomotor development till the age of 14 months, followed by behavioural, social and psychomotor regression. Physical examination revealed a below normal head circumference, loss of eye and psychic contact, stereotypic hand ...
S, Lazuardi, N, Advani, S, Ismael
openaire   +3 more sources

Mental health difficulties in cerebral palsy: A qualitative study of young people's and parents' perspectives

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To explore the experiences of mental health difficulties and access to mental health support among young people with cerebral palsy (CP). Method We used a qualitative descriptive design. Participants were young people with CP aged 13 to 25 years and parents of children with CP (6–25 years).
Manjula Manikandan, Jennifer Fortune, Jessica Burke, Aisling Walsh, Aoife Twohig, Ian McClelland, Amanda Breen, Meriel Norris, Jennifer M. Ryan, RELATE‐CP study team, Reuel Jalal, Mary Cannon, Kimberley J Smith, Michael Walsh, Ruth Kevlin, Claire Kerr   +15 more
wiley   +1 more source

Clinical and genetic characterization of intellectual disability

Developmental Medicine &Child Neurology, EarlyView.
This study examines the etiological factors and comorbidities in a large cohort of Finnish patients with intellectual disability. Genetic causes—including chromosomal abnormalities and pathogenic gene variants—were more frequently identified in individuals with moderate to profound intellectual disability.
Aarni Venetvaara, Minna Kraatari‐Tiri, Jussi‐Pekka Tolonen, Marko Merikukka, IDGEN Study Group, Hannaleena Kokkonen, Teija Paakkola, Susanna Varis, Antti Dahl, Jarmo Körkkö, Jonna Komulainen‐Ebrahim, Jukka Moilanen, Johanna Uusimaa, Outi Kuismin, Elisa Rahikkala   +14 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

Consensus definition for developmental regression during childhood

Developmental Medicine &Child Neurology, EarlyView.
In this study, 41 expert interdisciplinary clinicians participated in two rounds of a Delphi survey to reach a consensus agreement on the developmental domains and duration of regression. Reaching an agreed working definition is a crucial first step towards the earlier and consistent identification of children experiencing developmental regression ...
Gauravi Gawade, Ellaina P Andersson, Ava Nielsen, Katrina Williams, Kirsten Furley   +4 more
wiley   +1 more source