A genetic database can help further our understanding of the inheritance patterns of congenital heart disease

Learn about Congenital Heart Disease

Congenital heart defects make up the largest category of malformations in Canadian children and are a significant cause of death in infants under one. However, improved detection, intervention, and care strategies are now allowing more individuals born with these defects to survive into adulthood and have children of their own. A better understanding of the genetic factors that predispose an individual to congenital heart disease is essential to not just treatment but also prevention. The database compiled in this study will continue to be augmented with information from more patients, but it has already shown that a particular type of heart defect, left ventricular outflow tract obstruction (LVOTO), is strongly linked to the inheritance of two or more genes.

Do children with Juvenile Arthritis and their parents agree about their quality of life?

Learn about Juvenile Arthritis

Health-related quality of life is an important measure used to evaluate outcomes in juvenile idiopathic arthritis. This study aimed to determine whether parents agreed with their children on their child’s perceived quality of life. A better understanding of the entire family’s perceptions may benefit the therapeutic relationship between the service provider and the patient, and more effectively address the concerns of children with disabilities and their families.

Does caregivers recall of JAI treatment match recommendations intended by medical teams?

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Caregivers’ recall of treatment-adherence is critical in helping medical teams make clinical decisions for JAI. However, caregivers may believe they are adhering to treatment when in reality, their understanding of the recommendations are different than the ones intended by the medical team. In this study, the agreement between caregiver recall and prescribed treatment was calculated. Agreement for medication-related recommendations was substantial; however, agreement for exercise-related recommendations was slight to moderate. Health care providers need to make sure their patients understand treatment recommendations, particularly for exercise regimens.

Genetic variation in folate metabolism may be linked to inherited heart defects

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Folate is an essential ingredient for healthy embryonic development. It is a vitamin that naturally exists in many foods, however, not all new mothers always had access to it. In 1998, Canada mandated that all grain products should incorporate Folic acid, the synthetic form of folate. After ingesting folate or folic acid, the mother’s body converts this vitamin into an active form that is crucial for embryonic development. It helps cells divide and helps build and maintain DNA.

Brain abnormalities are present before birth in many children with congenital heart disease

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This study adds to emerging evidence of a prenatal origin of brain abnormalities in children with CHD. The new knowledge may allow practitioners to target neurodevelopmental therapies at a very early age, thus improving long-term outcome among children with CHD.

Towards a better understanding of the detection, causes, and management of stroke in newborns and children

Learn about High Risk Newborn

Pediatric stroke is rarely fatal but about half of those who survive will develop a long-term neurological deficit. Current advances in neuroimaging are making it easier to recognize stroke so that newborns and children can be targeted for appropriate supportive and neuroprotective treatment to minimize long-term damage.

Topiramate may be effective for treating seizures in newborns

Learn about High Risk Newborn

Seizures in newborns may cause brain injury or they may be indicative of an underlying brain injury, and it is essential to treat injuries in addition to the seizures. For decades, neonatal seizures have been treated with phenobarbitol and phenytoin, even though these have limited success and may be harmful to the developing brain. Rigorous studies may show that topiramate is a safer and more effective treatment for seizures in newborns.

Readily available indicators may predict risk of adverse outcome in asphyxiated newborns who experience seizures

Learn about High Risk Newborn

Depending on the extent of brain injury, one or more developmental disorders may emerge in newborns who experience seizures following birth. The indicators described in this study do not precisely predict which disorder will appear or how severely it will affect the child, but they do provide a good idea of whether or not the possibility for future developmental deficits exists.

One case of extreme prematurity suggests a possible link between cerebellar injury and autism spectrum disorders

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This report of a survivor of extreme prematurity with cerebellar injury, who was diagnosed with autism spectrum disorder (ASD), adds to growing evidence of a link between this spectrum of disorders and prematurity associated cerebellar injury.

Changes in blood flow to the brain may help doctors predict brain injury in newborns with stroke

Learn about High Risk Newborn

Arterial ischemic stroke (AIS) is caused by a blockage in an artery feeding the brain. Newborns who suffer a stroke may display seizures immediately, in which case they are easier to identify and support, or they may only display symptoms of the stroke in the long-term. Long-term effects of perinatal stroke may include seizures, motor impairment, developmental delay, and cognitive and behavioral problems. It is possible that brain perfusion levels can be used to detect and treat salvageable tissues, mitigating these long-term effects.

Injury to the cerebellum in premature infants can be accompanied by region-specific impairments to cerebral growth

Learn about High Risk Newborn

Brain development accelerates rapidly during the third trimester of gestation, and infants born before this process are vulnerable to brain injury. This injury can affect neurodevelopment, impairing later motor, social, behavioral, cognitive, and language abilities. Improved early detection of brain injuries and a deeper understanding of their full extent will allow practitioners to develop valuable therapies for improving long-term outcomes among preterm infants.

Increased blood flow to the brain following asphyxiation may predict a newborn’s risk for brain injury

Learn about High Risk Newborn

This study shows us that perfusion rate following asphyxiation does influence the extent of brain injury that leads to neurological deficits in high-risk newborns. Hypothermia is currently the only effective treatment for minimizing neurological deficits in high-risk newborns following asphyxiation. It is thought that hypothermia therapy prevents reperfusion injury by slowing the cascade of events that lead to cell death.

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