Results 181 to 190 of about 88,636 (324)
Constructed growth charts and nutrition for pontocerebellar hypoplasia type 2A
Developmental Medicine &Child Neurology, EarlyView.To our knowledge, we are the first to provide constructed disease‐specific growth charts for PCH2A (age 0–18 years). Constructed growth charts (0–2 years) for height, weight, body mass index, and head circumference are compared in a sex‐disaggregated manner to typically developing children. Failure to thrive is evident despite normal caloric intake and
Alice Kuhn +9 more
wiley +1 more source
Early Cranial Ultrasound Lesions Predict Microcephaly at Age 2 Years in Preterm Infants
, 2010 Kalpathy S. Krishnamoorthy +5 more
openalex +1 more source
Microcephaly-chorioretinopathy syndrome, autosomal recessive form. A case report
, 2022 Rafael Fabiano Machado Rosa +8 more
openalex +1 more source
Developmental Medicine &Child Neurology, EarlyView.Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.70022 Abstract Aim To examine the accuracy of prenatal counselling at a multidisciplinary fetal neurology clinic (FNC) that led to termination of pregnancy (TOP), to improve the quality of future consultations. Method This retrospective diagnostic cohort study compared the imaging
Avi Shariv +12 more
wiley +1 more source
Zika Virus Disrupts Neural Progenitor Development and Leads to Microcephaly in Mice.
Cell Stem Cell, 2016 Cui Li +9 more
semanticscholar +1 more source
Developmental Medicine &Child Neurology, EarlyView.Abstract After treatment with new disease‐modifying therapies, cognitive and neurodevelopmental aspects have been observed in individuals with spinal muscular atrophy (SMA). Emerging evidence suggests that children with SMA type 1 may experience cognitive, language, and behavioural delays, with reported rates of neurodevelopmental difficulties ranging ...
Giorgia Coratti +2 more
wiley +1 more source
Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures [PDF]
, 2009 Stephen R. Williams +7 more
openalex +1 more source
Clinical and genetic landscape of epilepsies with absence seizures and single‐gene etiology
Epilepsia, EarlyView.Abstract Objective To characterize the clinical, electroencephalographic, and genetic features of epilepsies featuring absence seizures within monogenic etiology, highlighting the diagnostic, treatment and prognostic implications. Methods We conducted a retrospective, multicenter study including patients with monogenic epilepsies and ...
Simona Balestrini +50 more
wiley +1 more source