Objective: Guillain-Barre Syndrome (GBS) is an acute polyradiculoneuropathy characterized by progressive motor weakness of limbs and areflexia. In this study, our aim was to evaluate the clinical pattern and prognosis of children with Guillain-Barre syndrome.
Materials & Methods: This cross-sectional study was conducted in the Pediatric Neurology Unit of Amirkola Children's Hospital, Babol, Iran during the period of 5 years from October 2008 to September 2013. We assessed the clinical features, results of electrodiagnostic tests, functional status, treatment and outcome of 17 children diagnosed with GBS.
Results: Of 17 (male to female ratio = 1.6:1) children studied, all had motor weakness, 4 children (23.5 %) and cranial nerve palsies. Respiratory paralysis was found in one child requiring assisted ventilation. Antecedent illness preceding GBS was recorded in 7 (41.2%) children. The GBS subtype distribution as per electrodiagnostic studies was as follows: acute inflammatory demyelinating polyradiculoneuropathy (AIDP) in 12 (70.6%) acute motor axonal neuropathy (AMAN) in 3 (17.6%), acute motor sensory axonal neuropathy (AMSAN) in 2 (11.8%). IVIG constituted the treatment given in all of the patients. Complete recovery was observed in 16 children and the remaining one child was dependent to wheelchair.
Conclusion: GBS in children is not poor prognostic disorder and our recommendation is administration of IVIG as soon as possible after clinical diagnosis. Except for one child who remained wheelchair bound, there was no mortality or morbidity in long-term observation. Besides, strong limitation of our study was the low number of subjects.
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Genet Med
January 2025
Genomics Ethics, and Translational Research Program, RTI International, Research Triangle Park, NC; Department of Translational and Applied Genomics, Kaiser Permanente Center for Health Research, Portland, OR. Electronic address:
Purpose: Limited evidence evaluates parents' perceptions of their child's clinical genomic sequencing (GS) results, particularly among individuals from medically underserved groups. Five Clinical Sequencing Evidence-Generating Research (CSER) consortium studies performed GS in children with suspected genetic conditions with high proportions of individuals from underserved groups to address this evidence gap.
Methods: Parents completed surveys of perceived understanding, personal utility, and test-related distress after GS result disclosure.
Genet Med
January 2025
Newborn Screening Ontario, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa. Electronic address:
Purpose: Universal newborn hearing screening (UNHS) programs using audiometric techniques alone are limited in ability to detect non-congenital childhood permanent hearing loss (PHL). In 2019, Ontario launched universal newborn screening (NBS) for PHL risk factors: congenital cytomegalovirus (cCMV) and 22 common variants in GJB2 and SLC26A4. Here we describe our experience with genetic risk factor screening.
View Article and Find Full Text PDFACR Open Rheumatol
January 2025
Duke University and Duke Clinical Research Institute, Durham, North Carolina.
Objective: The objective of this study was to evaluate the preliminary effectiveness of an electronic pill bottle with automated reminders on hydroxychloroquine (HCQ) adherence in children with pediatric systemic lupus erythematosus (pSLE).
Methods: This was a self-controlled, open label, direct-to-family pilot trial. Children with pSLE treated with HCQ were recruited from the Childhood Arthritis and Rheumatology Research Alliance Registry.
Dev Med Child Neurol
January 2025
Speech and Language, Murdoch Children's Research Institute, Parkville, Victoria, Australia.
Aim: To examine the adaptive behaviour profiles of children with monogenic neurodevelopmental disorders (NDDs) to determine whether syndrome-specific or transdiagnostic approaches provide a better understanding of the adaptive behavioural phenotypes of these NDDs.
Method: This cross-sectional study included parents and caregivers of 243 (48% female) individuals (age range = 1-25 years; mean = 8 years 10 months, SD = 5 years 8 months) with genetically confirmed monogenic NDDs (CDK13, DYRK1A, FOXP2, KAT6A, KANSL1, SETBP1, BRPF1, and DDX3X). Parents and caregivers completed the Vineland Adaptive Behavior Scales, Third Edition to assess communication, daily living, socialization, and motor skills.
Several techniques for the surgical correction of congenital supravalvular aortic stenosis have been devised. We describe the step-by-step surgical approach of a slide aortoplasty to correct localized supravalvular aortic stenosis in a 3-year-old child with Williams syndrome.
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