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Australian children living with rare diseases: health service use and barriers to accessing care

Children with rare diseases experience challenges at home and school and frequently require multi-disciplinary healthcare. We aimed to determine health service utilization by Australian children with rare diseases and barriers to accessing healthcare.

Mandatory fortification with folic acid for the prevention of neural tube defects: a case study of Australia and New Zealand

To present a case study of the considerations of mandatory fortification with folic acid in Australia and New Zealand.

The neglect of a child with intellectual disability as reported in Australian news media: A Foucauldian discourse analysis

People with intellectual disability experience a high risk of being neglected and family members are often identified as the perpetrators. Analysing the media provides insight into public narratives about social problems. A search of Australian newspapers published between 2016 and 2021 identified 27 articles that predominately reported on a single case of familial neglect of an individual with intellectual disability.

The Emerging Omicron Variant, Children and School

Many publications have demonstrated the detrimental effects of school closures on children, families and communities in the past two years of the COVID-19 pandemic. Currently, there is a surge of Omicron cases as children prepare to return to school around the world. While many children are asymptomatic or have mild disease, it is nevertheless an important problem.

Psychometric properties of QI-Disability in CDKL5 Deficiency Disorder: Establishing readiness for clinical trials

CDKL5 Deficiency Disorder (CDD) is a rare genetic disorder with symptoms of epilepsy, developmental impairments, and other comorbidities. Currently, there are no outcome measures for CDD with comprehensive evidence of validation. This study aimed to evaluate the psychometric properties of the Quality of Life Inventory-Disability (QI-Disability) in CDD. Quality of Life Inventory-Disability was administered to 152 parent caregivers registered with the International CDKL5 Disorder Database (ICDD).

Preclinical efficacy of azacitidine and venetoclax for infant KMT2A-rearranged acute lymphoblastic leukemia reveals a new therapeutic strategy

Infants with KMT2A-rearranged B-cell acute lymphoblastic leukemia (ALL) have a dismal prognosis. Survival outcomes have remained static in recent decades despite treatment intensification and novel therapies are urgently required.

The Utility of Natural Language Samples for Assessing Communication and Language in Infants Referred with Early Signs of Autism

Natural Language Sampling (NLS) offers clear potential for communication and language assessment, where other data might be difficult to interpret. We leveraged existing primary data for 18-month-olds showing early signs of autism, to examine the reliability and concurrent construct validity of NLS-derived measures coded from video-of child language, parent linguistic input, and dyadic balance of communicative interaction-against standardised assessment scores. Using Systematic Analysis of Language Transcripts (SALT) software and coding conventions, masked coders achieved good-to-excellent inter-rater agreement across all measures.

Global estimates of the number of pregnancies at risk of malaria from 2007 to 2020: a demographic study

The most recent global estimates of the number of pregnancies at risk of Plasmodium falciparum and Plasmodium vivax malaria infection are from 2007. To inform global malaria prevention and control efforts, we aimed to estimate the global distribution of pregnancies at risk of malaria infection from 2007 to 2020.

The effect of undernutrition on sputum culture conversion and treatment outcomes among people with multidrug-resistant tuberculosis: a systematic review and meta-analysis

We aimed to evaluate the effect of undernutrition on sputum culture conversion and treatment outcomes among people with multidrug-resistant tuberculosis.

Health promotion is central to the establishment of an Australian Centre for Disease Control

Melinda Edmunds BSc Program Manager, Ear and Hearing Health Melinda.Edmunds@thekids.org.au Program Manager Melinda is the Program Manager of the Ear