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Research

Children with Down syndrome (DS) are at a significantly higher risk of developing acute myeloid leukemia, also termed myeloid leukemia associated with DS (ML-DS). In contrast to the highly favorable prognosis of primary ML-DS, the limited data that are available for children who relapse or who have refractory ML-DS (r/r ML-DS) suggest a dismal prognosis. There are few clinical trials and no standardized treatment approach for this population.

Research

Respiratory disease is a leading cause of morbidity, mortality, and poor quality of life in children with cerebral palsy (CP). This study describes the prevalence of CP-related respiratory disease and the non-modifiable risk factors for respiratory-related hospital admissions in the Aotearoa New Zealand population.

Research

To describe trends, age, and sex-specific patterns of population hospital admissions with a diagnosis of craniosynostosis (CS) in Australia. Population data for hospital separations (in-patient) from public and private hospitals (July 1996-June 2018) were obtained from the publicly available Australian Institute of Health and Welfare (AIHW) National Hospital Morbidity Database.

Research

Congenital cytomegalovirus (cCMV) is an important cause of long-term childhood disability. In Australia, the identification and treatment practices and the long-term clinical and neurodevelopmental outcomes of children with cCMV are unknown.

Research

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.

Research

Antisense oligonucleotides are an emerging therapeutic option to treat diseases with known genetic origin. In the age of personalised medicines, antisense oligonucleotides can sometimes be designed to target and bypass or overcome a patient's genetic mutation, in particular those lesions that compromise normal pre-mRNA processing. Antisense oligonucleotides can alter gene expression through a variety of mechanisms as determined by the chemistry and antisense oligomer design.

Research

Parents of children with physical/mental health and/or neurodevelopmental conditions often need to make disclosure decisions for their child. Disclosure can bring benefits (e.g., support) but can also risk harm (e.g., stigma). This systematic review aimed to consolidate research regarding parents' disclosure experiences to better understand how to support parents during this process.

Research

Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) is an ultrarare genetic condition causing developmental epileptic encephalopathy characterized by seizures and motor and intellectual disabilities. No disease-modifying therapies are available, and treatments focus mainly on symptom management to improve quality of life.

Research

Rett syndrome (RTT) is a complex neurodevelopmental X-linked disorder associated with severe functional impairments and multiple comorbidities. There is wide variation in the clinical presentation, and because of its unique characteristics, several evaluation tools of clinical severity, behavior, and functional motor abilities have been proposed specifically for it.

Research

Cornelia de Lange Syndrome (CdLS) is a rare, dominantly inherited multisystem developmental disorder characterized by highly variable manifestations of growth and developmental delays, upper limb involvement, hypertrichosis, cardiac, gastrointestinal, craniofacial, and other systemic features.