CDKL5 Deficiency Disorder (CDD) is a rare, X-linked dominant condition that causes a developmental and epileptic encephalopathy (DEE). The incidence is between ~ 1:40,000 and 1:60,000 live births. Pathogenic variants in CDKL5 lead to seizures from infancy and severe neurodevelopmental delay. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2022
• June 2022

Many children with intellectual disability live with medical comorbidities. This study examined the impacts of comorbidities on quality of life (QOL) of children with intellectual disabilities and whether impacts varied with caregiver perceptions that medical needs had been met. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2021
• April 2021

Early motor impairments have been reported in children with neurodevelopmental disorders (NDD), but it is not clear if early detection of motor impairments can identify children at risk for NDD or how early such impairments might be detected. Our aim was to characterize early motor function in children later diagnosed with NDD relative to typically developing children or normative data. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2021
• February 2021

This is a case series of six children with unilateral cerebral palsy and hemispheric encephaloclastic lesions who were evaluated for epilepsy surgery. Seizure onset was in the neonatal period in three children, at 17 months in two, and at 5 years in one. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2021
• September 2021

Probiotics may be neuroprotective for preterm neonates due to their anti-inflammatory effects and ability to facilitate nutrition. AIM: To assess long-term effects of early probiotic supplementation on neuropsychological development in preterm infants ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2020
• August 2020

CDKL5 Deficiency Disorder (CDD) is a severe treatment-resistant form of early-onset epilepsy. Current treatment options are often ineffective and associated with adverse effects, forcing families to seek alternative therapies for their children including products derived from cannabis. Reportsof miraculous cures and a public preferencefor 'natural' therapies have resulted in considerable public interest, and so this study aimed to characterize the use of cannabis in these individuals, as well as compare caregiver perceptions of efficacy and safety to objective evidence of seizure control and number of antiepileptic drugs used. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2021
• June 2021

Naturalistic developmental behavioural interventions are promising approaches for young children with, or suspected of having, autism spectrum disorder. Joint attention, symbolic play, engagement and regulation intervention (JASPER) is a well-researched naturalistic developmental behavioural intervention but, to date, no reviews have specifically evaluated its effects. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2021
• August 2021

Preterm birth is a global public health problem with a significant burden on the individuals affected. The study aimed to extend current research on preterm birth prognostic model development by developing and internally validating models using machine learning classification algorithms and population-based routinely collected data in Western Australia. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2022
• November 2022

Alcohol and Other Drug (AOD) exposure during pregnancy is linked to serious adverse child outcomes, including Fetal Alcohol Spectrum Disorder. The Parent-Child Assistance Program (PCAP) supports women with problematic AOD use, who are pregnant or have young children, and are not effectively engaging with services. PCAP has been shown to reduce alcohol exposed pregnancies, promote AOD abstinence, increase employment and family planning and improve child outcomes. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2022
• August 2022

Alcohol related harms disproportionately affect Aboriginal people in Australia. Motives to drink have been identified as the most proximal factor to alcohol consumption.The aim of this study is to assess the validity of a culturally modified Drinking Motives Questionnaire-Revised (DMQ-R) (Cooper, 1994) with Aboriginal participants. The study was cross sectional, utilising data collected via face-to-face surveys with a sample of adult Aboriginal participants. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2022
• September 2022

To establish the burden of respiratory illness in cerebral palsy (CP) on the Western Australian health care system by quantifying the costs of respiratory hospitalizations in children with CP, compared with non-respiratory hospitalizations. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• July 2023

Irritability is a transdiagnostic indicator of child and adolescent internalizing and externalizing problems that is measurable from early life. The objective of this systematic review was to determine the strength of the association between irritability measured from 0 to 5 years and later internalizing and externalizing problems, to identify mediators and moderators of these relationships, and to explore whether the strength of the association varied according to irritability operationalization. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• February 2023