Cause-Specific Secular Trends and Prevention Measures of Post-Neonatally Acquired Cerebral Palsy in Victoria and Western Australia 1975-2014: A Population-Based Observational Study.

Aim: To describe the timing and causes of post-neonatally acquired cerebral palsy (PNN-CP) and map the implementation of relevant preventive strategies against cause-specific temporal trends in prevalence.

Methods: Data for a 1975-2014 birth cohort of children with PNN-CP (brain injury between 28 days and 2 years of age) were drawn from the Victorian and Western Australian CP Registers. Descriptive statistics were used to report causal events and timing.

Immune response to COVID-19 vaccination in patients with Waldenström macroglobulinaemia who pause their BTKi therapy.

Patients with Waldenström macroglobulinaemia (WM) are at increased risk of severe COVID-19 infection and have poor immune responses to COVID-19 vaccination. This study assessed whether a closely monitored pause in Bruton's Tyrosine Kinase inhibitor (BTKi) therapy might result in an improved humoral response to a 3rd COVID-19 vaccine dose. Improved response was observed in WM patients who paused their BTKi, compared to a group who did not pause their BTKi.

Infants With Congenital Heart Disease at Risk of Early Atherosclerotic Disease.

Background Aortic intima-media thickness (aIMT) measurement is an established indicator of preclinical atherosclerosis. We aimed to describe the aIMT in infants with congenital heart disease undergoing cardiac surgery over the first year of life and explore its association with cardiopulmonary bypass, growth velocity, and a diagnosis of left heart obstruction. Methods and Results A prospective cohort study measuring mean and maximum aIMT preoperatively, at 3 months, and 1 year of age in neonates with congenital heart disease undergoing cardiac surgery.

Expansion of the clinical and neuroimaging spectrum associated with NDUFS8-related disorder.

Biallelic pathogenic variants in , a nuclear gene encoding a subunit of mitochondrial complex I, result in a mitochondrial disorder characterized by varying clinical presentations and severity. Here, we expand the neuroimaging and clinical spectrum of NDUFS8-related disorder. We present three cases from two unrelated families (a girl and two brothers) homozygous for a recurrent pathogenic variant [c.

Impact of Fontan Fenestration on Long-Term Outcomes: A Propensity Score-Matched Analysis.

Background The long-term impact of fenestration at the time of Fontan operation remains unclear. We aimed to review the early and long-term impact of Fontan fenestration in the Australia and New Zealand cohort. Methods and Results We reviewed 1443 patients (621 fenestrated, 822 nonfenestrated) from the Australia and New Zealand Fontan registry.

BrightHearts: A pilot study of biofeedback assisted relaxation training for the management of chronic pain in children with cerebral palsy.

Background: Chronic pain is estimated to impact one-in-three children with cerebral palsy (CP). Psychological interventions including behavioral and cognitive strategies play a key role in chronic pain management, but there is a paucity of research exploring their use in children with CP.

Aim: To investigate the acceptability and feasibility of biofeedback assisted relaxation training (BART) for chronic pain management in children with CP using a mixed-methods study design.

Fetal dural sinus malformation: A case report and discussion of the literature.

Introduction: Fetal dural sinus malformation is a rare but important finding during pregnancy as it has the potential for significant complications.

Methods: Here we present a case of fetal dural sinus malformation and review the current literature relevant to this condition.

Results: We present the case of a 33-year-old woman who had fetal dural sinus malformation containing thrombus diagnosed at morphology ultrasound and confirmed on fetal magnetic resonance imaging (MRI).

A national harmonised data collection network for neurodevelopmental disorders: A transdiagnostic assessment protocol for neurodevelopment, mental health, functioning and well-being.

Background: Children with neurodevelopmental disorders share common phenotypes, support needs and comorbidities. Such overlap suggests the value of transdiagnostic assessment pathways that contribute to knowledge about research and clinical needs of these children and their families. Despite this, large transdiagnostic data collection networks for neurodevelopmental disorders are not well developed.

Effectiveness of early hematopoietic stem cell transplantation in preventing neurocognitive decline in aspartylglucosaminuria: A case series.

Aspartylglucosaminuria (AGU) (OMIM #208400) is a recessively inherited disorder of glycoprotein catabolism, a subset of the lysosomal storage disorders (LSDs). Deficiency of the enzyme (E.C.

Cerebrospinal fluid metabolomics: detection of neuroinflammation in human central nervous system disease.

The high morbidity and mortality of neuroinflammatory diseases drives significant interest in understanding the underlying mechanisms involved in the innate and adaptive immune response of the central nervous system (CNS). Diagnostic biomarkers are important to define treatable neuroinflammation. Metabolomics is a rapidly evolving research area offering novel insights into metabolic pathways, and elucidation of reliable metabolites as biomarkers for diseases.

Pathogenesis of autoimmune demyelination: from multiple sclerosis to neuromyelitis optica spectrum disorders and myelin oligodendrocyte glycoprotein antibody-associated disease.

Autoimmunity plays a significant role in the pathogenesis of demyelination. Multiple sclerosis (MS), neuromyelitis optica spectrum disorders (NMOSD) and myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) are now recognised as separate disease entities under the amalgam of human central nervous system demyelinating disorders. While these disorders share inherent similarities, investigations into their distinct clinical presentations and lesion pathologies have aided in differential diagnoses and understanding of disease pathogenesis.

Cord blood group 2 innate lymphoid cells are associated with lung function at 6 weeks of age.

Objective: Offspring born to mothers with asthma in pregnancy are known to have lower lung function which tracks with age. Human group 2 innate lymphoid cells (ILC2) accumulate in foetal lungs, at 10-fold higher levels compared to adult lungs. However, there are no data on foetal ILC2 numbers and the association with respiratory health outcomes such as lung function in early life.

Liver transplantation in children with inborn errors of metabolism: 30 years experience in NSW, Australia.

Background: Inborn errors of metabolism (IEM) are a diverse group of genetic disorders that can result in significant morbidity and sometimes death. Metabolic management can be challenging and burdensome for families. Liver transplantation (LT) is increasingly being considered a treatment option for some IEMs.

Infrared Thermal Imaging for Evaluation of Clubfoot After the Ponseti Casting Method-An Exploratory Study.

Conservative treatment, Ponseti method, has been considered as a standard method to correct the clubfoot deformity among Orthopedic society. Although the result of conservative methods have been reported with higher success rates than surgical methods, many more problems have been reported due to improper casting, casting pressure or bracing discomfort. Nowadays, infrared thermography (IRT) is widely used as a diagnostic tool to assess musculoskeletal disorders or injuries by detecting temperature abnormalities.

High HbA1c is not a reason not to fast during Ramadan in Children, adolescents and young adults with Type 1 diabetes - An observational study in Bangladesh.

Aims: Our aim was to investigate the ability, frequency of acute complications and impact on glycemic control in uncontrolled T1DM who fasted during Ramadan.

Methods: 74 Patients with T1D who insisted on fasting were enrolled 1 month prior to Ramadan and given intensive education by Diabetes team on insulin dose, glucose monitoring and dietary adjustments. Patients were divided into two groups ; group A- HbA1c < 9%(<75 mmol/mol) and group B- HbA1c ≥ 9% (≥75 mmol/mol) and different variables were compared.

Pro-inflammatory dopamine-2 receptor-specific T cells in paediatric movement and psychiatric disorders.

Objectives: A dysregulated inflammatory response against the dopamine-2 receptor (D2R) has been implicated in movement and psychiatric disorders. D2R antibodies were previously reported in a subset of these patients; however, the role of T cells in these disorders remains unknown. Our objective was to identify and characterise pro-inflammatory D2R-specific T cells in movement and psychiatric disorders.

Beneficial outcome of early dietary lysine restriction as an adjunct to pyridoxine therapy in a child with pyridoxine dependant epilepsy due to Antiquitin deficiency.

Pyridoxine-dependent epilepsy (PDE) is a potentially treatable vitamin-responsive epileptic encephalopathy. The most prevalent form of PDE is due to an underlying genetic defect in encoding Antiquitin (ATQ), an enzyme with α-aminoadipic semialdehyde dehydrogenase (AASADH) activity which facilitates cerebral lysine degradation. Devastating outcomes including intellectual disability and significant developmental delays are still observed in 75% to 80% of pyridoxine responsive individuals with good seizure control, potentially attributable to the accumulation of toxic intermediates α-aminoadipic semialdehyde (AASA) and its cyclic form Δ-piperideine-6-carboxylate (P6C) in plasma, urine and CSF.

Two novel B9D1 variants causing Joubert syndrome: Utility of mRNA and splicing studies.

The primary cilium is an organelle which plays an important role in the transduction of signals in the Wnt and Sonic hedgehog pathways. Abnormal or absent primary cilia result in various neurodevelopmental, retinal, renal, hepatic and musculoskeletal abnormalities. Joubert syndrome (JS) is a ciliopathy with a prevalence estimated to be between 1:80 000 and 1:100 000.

Health-Related Quality of Life in Children, Adolescents, and Adults With a Fontan Circulation: A Meta-Analysis.

Background People with a Fontan circulation experience a range of physical, psychosocial and neurodevelopmental challenges alongside, or caused by, their cardiac condition, with significant consequences for health-related quality of life (HRQOL). We meta-analyzed HRQOL outcomes reported by people with a Fontan circulation or their proxies and evaluated predictors of poorer HRQOL. Methods and Results Six electronic databases were searched for peer-reviewed, English-language articles published before March 2019.

Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patients.

Background: Phosphomannomutase 2 deficiency (PMM2-CDG) is the most common congenital disorder of glycosylation (CDG). Hypoglycemia has been reported in various CDG including PMM2-CDG. The frequency and etiology of hypoglycemia in PMM2-CDG are not well studied.