Individuals with Prader-Willi syndrome (PWS) often have excessive daytime sleepiness and emotional/behavioral disturbances. The objective of this study was to examine whether daytime sleepiness was associated with these emotional/behavioral problems, independent of nighttime sleep-disordered breathing, or the duration of sleep. ...

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

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

Characterized by early-onset seizures, global developmental delay and severe motor deficits, CDKL5 deficiency disorder is caused by pathogenic variants in the cyclin-dependent kinase-like 5 gene. Previous efforts to investigate genotype-phenotype relationships have been limited due to small numbers of recurrent mutations and small cohort sizes. Using data from the International CDKL5 Disorder Database we examined genotype-phenotype relationships for 13 recurrent CDKL5 variants and the previously analyzed historic variant groupings. We have applied the CDKL5 Developmental Score (CDS) and an adapted version of the CDKL5 Clinical Severity Assessment (CCSA), to grade the severity of phenotype and developmental outcomes for 285 individuals with CDKL5 variants. ...

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

People with two or more copies of MECP2 gene, located at Xq28, share clinical features and a distinct facial phenotype called MECP2 Duplication syndrome. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2017
• April 2017

Amy Jenny Andrew Helen Deborah Martyn Melissa Phil Kandice Gail Vincent Finlay-Jones Downs Whitehouse Watch and listen to Andrew Leonard Strickland Symons Licari Stumbles Varcin Alvares Mancini AFJ JA AJ HM DH MS ML PS KJ GA VOM BPsych(Hons), MPsych ...

• 1. Telethon Kids Institute
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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

Gastrostomy placement was associated with improvement in BMI in females with Rett syndrome, but its long-term impact on individuals and their families is unclear ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2018
• September 2018

Parent observations provide an initial framework for understanding quality of life in autism spectrum disorder ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2019
• January 2019

We investigated parental observations to identify QOL domains in children with Down Syndrome and determined whether domains differed between children and teens. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2017
• February 2017

Validated measures capable of demonstrating meaningful interventional change in the CDKL5 deficiency disorder (CDD) are lacking. The study objective was to modify the Rett Syndrome Gross Motor Scale (RSGMS) and evaluate its psychometric properties for individuals with CDD. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2024
• January 2024

Initial evaluation suggests that QI-Disability is a reliable and valid measure of quality of life across the spectrum of intellectual disability ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2019
• March 2019

Existing quality of life scales for children in the general population or with other disabilities did not capture the QOL of children with Rett syndrome ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2016
• March 2016