The Experts below are selected from a list of 360 Experts worldwide ranked by ideXlab platform
Nicolas Guex - One of the best experts on this subject based on the ideXlab platform.
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gnb5 mutations cause an autosomal recessive multisystem syndrome with sinus bradycardia and Cognitive Disability
American Journal of Human Genetics, 2016Co-Authors: Elisabeth M Lodder, Pasquelena De Nittis, Charlotte D Koopman, Wojciech Wiszniewski, Carolina Fischinger Moura De Souza, Najim Lahrouchi, Nicolas GuexAbstract:GNB5 encodes the G protein β subunit 5 and is involved in inhibitory G protein signaling. Here, we report mutations in GNB5 that are associated with heart-rate disturbance, eye disease, intellectual Disability, gastric problems, hypotonia, and seizures in nine individuals from six families. We observed an association between the nature of the variants and clinical severity; individuals with loss-of-function alleles had more severe symptoms, including substantial developmental delay, speech defects, severe hypotonia, pathological gastro-esophageal reflux, retinal disease, and sinus-node dysfunction, whereas related heterozygotes harboring missense variants presented with a clinically milder phenotype. Zebrafish gnb5 knockouts recapitulated the phenotypic spectrum of affected individuals, including cardiac, neurological, and ophthalmological abnormalities, supporting a direct role of GNB5 in the control of heart rate, hypotonia, and vision.
Jeffrey V Rosenfeld - One of the best experts on this subject based on the ideXlab platform.
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identifying factors contributing to child and family outcome 30 months after traumatic brain injury in children
Journal of Neurology Neurosurgery and Psychiatry, 2005Co-Authors: Vicki Anderson, Cathy Catroppa, Flora Haritou, Sue A Morse, Jeffrey V RosenfeldAbstract:Objective: To examine the contributions of injury severity, physical and Cognitive Disability, child and family function to outcome 30 months after traumatic brain injury (TBI) in children. Design: A prospective, longitudinal, between group design, comparing function before and after injury across three levels of injury severity. Subjects: One hundred and fifty children, 3.0–12.11 years old, admitted to hospital with a diagnosis of TBI. The sample was divided according to injury severity: mild (n = 42), moderate (n = 70), severe (n = 38). Children with a history of neurological, developmental, and psychiatric disorders were excluded from participation. Main outcome measures: Post injury physical function, Cognitive ability (incorporating intellect, memory, and attention), behavioural and family functioning, and level of family burden. Results: A dose–response relation was identified for injury severity and physical and Cognitive outcome, with significant recovery documented from acute to six months after TBI. Behavioural functioning was not related to injury severity, and where problems were identified, little recovery was noted over time. Family functioning remained unchanged from preinjury to post injury assessments. The level of family burden was high at both six and 30 months after injury, and was predicted by injury severity, functional impairment, and post injury child behavioural disturbance. Conclusions: These results suggest ongoing problems for the child and significant family burden 30 months after TBI. The nature and severity of the physical and Cognitive problems are closely related to injury severity, with child and family function predicted by psychosocial and premorbid factors.
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predictors of acute child and family outcome following traumatic brain injury in children
Pediatric Neurosurgery, 2001Co-Authors: Vicki Anderson, Cathy Catroppa, Flora Haritou, Sue A Morse, Linda Pentland, Jeffrey V Rosenfeld, Robyn StargattAbstract:Objective: To examine the relative contributions of injury severity, level of physical and Cognitive Disability, child behavior and family function to short-term outcome 6 months fo
Sally Jary - One of the best experts on this subject based on the ideXlab platform.
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drainage irrigation and fibrinolytic therapy drift for posthaemorrhagic ventricular dilatation 10 year follow up of a randomised controlled trial
Archives of Disease in Childhood, 2020Co-Authors: Karen Luyt, Sally Jary, Grazyna Kmita, Grace J Young, Helen Miller, Cathy Williams, Peter S Blair, William Hollingworth, Michelle Morgan, Adam SmithcollinsAbstract:Background Progressive ventricular dilatation after intraventricular haemorrhage (IVH) in preterm infants has a very high risk of severe Disability and death. Drainage, irrigation and fibrinolytic therapy (DRIFT), in a randomised controlled trial (RCT), reduced severe Cognitive impairment at 2 years. Objective To assess if the Cognitive advantage of DRIFT seen at 2 years persisted until school age. Participants The RCT conducted in four centres recruited 77 preterm infants with IVH and progressive ventricular enlargement over specified measurements. Follow-up was at 10 years of age. Intervention Intraventricular injection of a fibrinolytic followed by continuous lavage, until the drainage was clear, and standard care consisting of control of expansion by lumbar punctures and if expansion persisted via a ventricular access device. Primary outcome Cognitive quotient (CQ), derived from the British Ability Scales and Bayley III Scales, and survival without severe Cognitive Disability. Results Of the 77 children randomised, 12 died, 2 could not be traced, 10 did not respond and 1 declined at 10-year follow-up. 28 in the DRIFT group and 24 in the standard treatment group were assessed by examiners blinded to the intervention. The mean CQ score was 69.3 (SD=30.1) in the DRIFT group and 53.7 (SD=35.7) in the standard treatment group (unadjusted p=0.1; adjusted p=0.01, after adjustment for the prespecified variables sex, birth weight and IVH grade). Survival without severe Cognitive Disability was 66% in the DRIFT group and 35% in the standard treatment group (unadjusted p=0.019; adjusted p=0.003). Conclusion DRIFT is the first intervention for posthaemorrhagic ventricular dilatation to objectively demonstrate sustained Cognitive improvement. Trial registration number ISRCTN80286058.
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randomized trial of drainage irrigation and fibrinolytic therapy for premature infants with posthemorrhagic ventricular dilatation developmental outcome at 2 years
Pediatrics, 2010Co-Authors: Andrew Whitelaw, Sally Jary, Grazyna Kmita, Jolanta Wroblewska, Ewa Musialikswietlinska, Marek Mandera, Linda P Hunt, Michael R Carter, Ian K PopleAbstract:Background: Preterm infants who develop posthemorrhagic ventricular dilatation (PHVD) have a high risk of Cognitive and motor Disability. No clinical intervention has been proven to reduce neurodevelopmental Disability in such infants. We investigated whether drainage, irrigation, and fibrinolytic therapy (DRIFT), which aims to lower pressure, distortion, free iron, and cytokines, reduces death or severe Disability in PHVD. Methods: We randomly assigned 77 preterm infants with PHVD to either DRIFT or standard treatment (ie tapping off cerebrospinal fluid to control excessive expansion). Severe Disability was assessed at 2 years9 corrected age and included severe sensorimotor Disability and Cognitive Disability ( Results: Of 39 infants assigned to DRIFT, 21 (54%) died or were severely disabled versus 27 of 38 (71%) in the standard group (adjusted odds ratio 0.25 [95% confidence interval: 0.08–0.82]). Among the survivors, 11 of 35 (31%) in the DRIFT group had severe Cognitive Disability versus 19 of 32 (59%) in the standard group (adjusted odds ratio: 0.17 [95% confidence interval: 0.05–0.57]). Median Mental Development Index was 68 with DRIFT and Conclusions: Despite an increase in secondary intraventricular bleeding, DRIFT reduced severe Cognitive Disability in survivors and overall death or severe Disability.
Grazyna Kmita - One of the best experts on this subject based on the ideXlab platform.
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drainage irrigation and fibrinolytic therapy drift for posthaemorrhagic ventricular dilatation 10 year follow up of a randomised controlled trial
Archives of Disease in Childhood, 2020Co-Authors: Karen Luyt, Sally Jary, Grazyna Kmita, Grace J Young, Helen Miller, Cathy Williams, Peter S Blair, William Hollingworth, Michelle Morgan, Adam SmithcollinsAbstract:Background Progressive ventricular dilatation after intraventricular haemorrhage (IVH) in preterm infants has a very high risk of severe Disability and death. Drainage, irrigation and fibrinolytic therapy (DRIFT), in a randomised controlled trial (RCT), reduced severe Cognitive impairment at 2 years. Objective To assess if the Cognitive advantage of DRIFT seen at 2 years persisted until school age. Participants The RCT conducted in four centres recruited 77 preterm infants with IVH and progressive ventricular enlargement over specified measurements. Follow-up was at 10 years of age. Intervention Intraventricular injection of a fibrinolytic followed by continuous lavage, until the drainage was clear, and standard care consisting of control of expansion by lumbar punctures and if expansion persisted via a ventricular access device. Primary outcome Cognitive quotient (CQ), derived from the British Ability Scales and Bayley III Scales, and survival without severe Cognitive Disability. Results Of the 77 children randomised, 12 died, 2 could not be traced, 10 did not respond and 1 declined at 10-year follow-up. 28 in the DRIFT group and 24 in the standard treatment group were assessed by examiners blinded to the intervention. The mean CQ score was 69.3 (SD=30.1) in the DRIFT group and 53.7 (SD=35.7) in the standard treatment group (unadjusted p=0.1; adjusted p=0.01, after adjustment for the prespecified variables sex, birth weight and IVH grade). Survival without severe Cognitive Disability was 66% in the DRIFT group and 35% in the standard treatment group (unadjusted p=0.019; adjusted p=0.003). Conclusion DRIFT is the first intervention for posthaemorrhagic ventricular dilatation to objectively demonstrate sustained Cognitive improvement. Trial registration number ISRCTN80286058.
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randomized trial of drainage irrigation and fibrinolytic therapy for premature infants with posthemorrhagic ventricular dilatation developmental outcome at 2 years
Pediatrics, 2010Co-Authors: Andrew Whitelaw, Sally Jary, Grazyna Kmita, Jolanta Wroblewska, Ewa Musialikswietlinska, Marek Mandera, Linda P Hunt, Michael R Carter, Ian K PopleAbstract:Background: Preterm infants who develop posthemorrhagic ventricular dilatation (PHVD) have a high risk of Cognitive and motor Disability. No clinical intervention has been proven to reduce neurodevelopmental Disability in such infants. We investigated whether drainage, irrigation, and fibrinolytic therapy (DRIFT), which aims to lower pressure, distortion, free iron, and cytokines, reduces death or severe Disability in PHVD. Methods: We randomly assigned 77 preterm infants with PHVD to either DRIFT or standard treatment (ie tapping off cerebrospinal fluid to control excessive expansion). Severe Disability was assessed at 2 years9 corrected age and included severe sensorimotor Disability and Cognitive Disability ( Results: Of 39 infants assigned to DRIFT, 21 (54%) died or were severely disabled versus 27 of 38 (71%) in the standard group (adjusted odds ratio 0.25 [95% confidence interval: 0.08–0.82]). Among the survivors, 11 of 35 (31%) in the DRIFT group had severe Cognitive Disability versus 19 of 32 (59%) in the standard group (adjusted odds ratio: 0.17 [95% confidence interval: 0.05–0.57]). Median Mental Development Index was 68 with DRIFT and Conclusions: Despite an increase in secondary intraventricular bleeding, DRIFT reduced severe Cognitive Disability in survivors and overall death or severe Disability.
Adam Smithcollins - One of the best experts on this subject based on the ideXlab platform.
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drainage irrigation and fibrinolytic therapy drift for posthaemorrhagic ventricular dilatation 10 year follow up of a randomised controlled trial
Archives of Disease in Childhood, 2020Co-Authors: Karen Luyt, Sally Jary, Grazyna Kmita, Grace J Young, Helen Miller, Cathy Williams, Peter S Blair, William Hollingworth, Michelle Morgan, Adam SmithcollinsAbstract:Background Progressive ventricular dilatation after intraventricular haemorrhage (IVH) in preterm infants has a very high risk of severe Disability and death. Drainage, irrigation and fibrinolytic therapy (DRIFT), in a randomised controlled trial (RCT), reduced severe Cognitive impairment at 2 years. Objective To assess if the Cognitive advantage of DRIFT seen at 2 years persisted until school age. Participants The RCT conducted in four centres recruited 77 preterm infants with IVH and progressive ventricular enlargement over specified measurements. Follow-up was at 10 years of age. Intervention Intraventricular injection of a fibrinolytic followed by continuous lavage, until the drainage was clear, and standard care consisting of control of expansion by lumbar punctures and if expansion persisted via a ventricular access device. Primary outcome Cognitive quotient (CQ), derived from the British Ability Scales and Bayley III Scales, and survival without severe Cognitive Disability. Results Of the 77 children randomised, 12 died, 2 could not be traced, 10 did not respond and 1 declined at 10-year follow-up. 28 in the DRIFT group and 24 in the standard treatment group were assessed by examiners blinded to the intervention. The mean CQ score was 69.3 (SD=30.1) in the DRIFT group and 53.7 (SD=35.7) in the standard treatment group (unadjusted p=0.1; adjusted p=0.01, after adjustment for the prespecified variables sex, birth weight and IVH grade). Survival without severe Cognitive Disability was 66% in the DRIFT group and 35% in the standard treatment group (unadjusted p=0.019; adjusted p=0.003). Conclusion DRIFT is the first intervention for posthaemorrhagic ventricular dilatation to objectively demonstrate sustained Cognitive improvement. Trial registration number ISRCTN80286058.