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Research

Unpacking the complex nature of the autism epidemic

This paper discusses changes in diagnostic criteria, decreasing age at diagnosis, improved case ascertainment, diagnostic substitution, and social influences.

Research

The common BDNF polymorphism may be a modifier of disease severity in Rett syndrome

Rett syndrome (RTT) is caused by mutations in the transcriptional repressor methyl CpG-binding protein 2 (MECP2).

Research

Siblings of children with disabilities: challenges and opportunities

Siblings of children with disabilities: challenges and opportunities

Research

Investigating genotype-phenotype relationships in Rett syndrome using an international data set

This study uses data from a large international database, InterRett, to examine genotype-phenotype relationships and compares these with previous findings in...

People

Jess Keeley

Within the Child Disability Team Jess has contributed to research that aims to improve understanding and measurement of the communication of people with CDKL5 Deficiency Disorder (CDD) by conducting and analysing interviews with families.

Research

Psychometric validation of the quality of life Inventory − Disability (QI-Disability) among patients with Lennox-Gastaut syndrome and Dravet syndrome

To evaluate the psychometric properties of the Quality of Life Inventory -Disability (QI-Disability) for individuals with Dravet syndrome (DS) or Lennox-Gastaut syndrome (LGS), two rare developmental and epileptic encephalopathy conditions.

Research

Parents’ Work–Family Conflict and Children’s Emotional Well-Being: The Mediating Role of Parenting Behaviors

Despite growing evidence that parental work–family conflict (WFC) affects children’s emotional well-being, little is known about the multiple pathways underlying such effects. This study examines the association between parental WFC and children’s emotional well-being and the potential mediating role of parenting behaviors in this process.

Research

Beyond Seizures as an Outcome Measure: A Global Severity Scoring System for CDKL5 Deficiency Disorder

CDKL5 deficiency disorder (CDD) is a rare developmental and epileptic encephalopathy (DEE) associated with multiple impairments and comorbidities. Outcome measures for disease-modifying clinical trials for DEEs should measurably capture a spectrum of caregiver priorities and be externally validated.