Results 71 to 80 of about 18,028 (242)
Pediatric Neurology Briefs, 1987 The electroencephalographic (EEG) characteristics of Retts syndrome were studied in 17 girls between the ages of 1 and 16 yrs at the Sections of Neurophysiology and Pediatric Neurology, Baylor College of Medicine and The Methodist Hospital, Houston, TX.
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NeuroMolecular Medicine, 2014 Rett syndrome (RTT) is a severe and progressive neurological disorder, which mainly affects young females. Mutations of the methyl-CpG binding protein 2 (MECP2) gene are the most prevalent cause of classical RTT cases. MECP2 mutations or altered expression are also associated with a spectrum of neurodevelopmental disorders such as autism spectrum ...
Vichithra R B, Liyanage +1 more
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Neuroprotection, EarlyView.Abstract Prime editing, a novel clustered regularly interspaced short palindromic repeats (CRISPR)‐based technology, fuses a reverse transcriptase (RT) to an engineered CRISPR‐associated protein 9 (Cas9) and uses a prime editing guide RNA (pegRNA)‐encoded template.
Tianshan Ji +4 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 +6 more
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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 +6 more
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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 +4 more
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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
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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 +14 more
wiley +1 more source
Rett syndrome: a clinical case
, 2021 Background. Rett syndrome is a rare genetic disorder often mimicked by variant other illnesses, which hampers its timely diagnosis. Although knowledge of this pathology has grown remarkably over the past two decades, an appropriate diagnosis is necessary
A. S. Ivanenko +2 more
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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 +7 more
wiley +1 more source