CDKL5 deficiency disorder (CDD) results in early-onset seizures and severe developmental impairments. A CDD clinical severity assessment (CCSA) was previously developed with clinician and parent-report items to capture information on a range of domains. ...

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

Gastrostomy assisted the management of feeding difficulties and poor weight gain, and was acceptable to families ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2014
• December 2014

This paper demonstrated that the evolution of sleep problems differed between subgroups of girls and women with Rett syndrome, in part explained by age and... ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2014
• September 2014

Promoting psychological well-being and preventing distress among pregnant women is an important public health goal. In addition to adversely impacting the mother's health and well-being, psychological distress in pregnancy increases the risk of poor pregnancy outcomes, compromises infant socioemotional development and bonding, and heightens maternal and child vulnerability in the postpartum period. Mindfulness and compassion-based interventions show potential for prevention and early intervention for perinatal distress. ...

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

To investigate modifiable child and caregiver factors influencing community participation among children with Down syndrome. ...

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

Amy Juliet Vincent Keerthi Professor Catherine Finlay-Jones Brook Mancini Kottampally Elliott AFJ JB VOM KK CE BPsych(Hons), MPsych(Clinical), ...

• 1. Telethon Kids Institute
• Projects

Children with intellectual disabilities are more likely to experience sleep disorders of insomnia, excessive daytime sleepiness and sleep breathing disorders than typically developing children. The present study examined risk factors for these sleep disorders in 447 children (aged 5-18 years), diagnosed with an intellectual disability and comorbid autism spectrum disorder, cerebral palsy, Down syndrome or Rett syndrome. Primary caregivers reported on their child's sleep using the Sleep Disturbance Scale for Children (SDSC), as well as medical comorbidities and functional abilities. ...

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

Amy Keerthi Jenny Daniel Finlay-Jones Kottampally Downs Ta AFJ KK JA DT BPsych(Hons), MPsych(Clinical), MHealthEcon, PhD (Clin Psych) Bsc (Hons), ...

• 1. Telethon Kids Institute
• Projects

Scoliosis is a common clinical manifestation of Rett syndrome, a neurodevelopmental disorder that almost exclusively affects girls. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2006
• September 2006

Families participating in the population-based and longitudinal Australian Rett Syndrome Database whose daughter had undergone spinal fusion provided data on... ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2014
• April 2014