Skip to content
The Kids Research Institute Australia logo
Donate

No results yet

Search

Showing results for "autism"

Research

Surgical fusion of early onset severe scoliosis increases survival in Rett syndrome: A cohort study

We investigated the impact of spinal fusion on survival and risk of severe lower respiratory tract infection in Rett syndrome.

Research

Exploring quality of life in individuals with a severe developmental and epileptic encephalopathy, CDKL5 Deficiency Disorder

CDKL5 Deficiency Disorder (CDD) is a rare genetic disorder caused by a mutation in the cyclin-dependent kinase-like 5 (CDKL5) gene. It is now considered to be a developmental and epileptic encephalopathy because of the early onset of seizures in association with severe global delay. Other features include cortical visual impairment, sleep and gastro-intestinal problems. Progress in clinical understanding, especially regarding the spectrum of functional ability, seizure patterns, and other comorbidities was initially slow but accelerated in 2012 with the establishment of the International CDKL5 Database (ICDD). Our aim was to use this data source to investigate quality of life (QOL) and associated factors in this disorder.

Research

Adapting a measure of gross motor skills for individuals with CDKL5 deficiency disorder: A psychometric study

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.

Research

Impact of Gastrostomy Placement on Nutritional Status, Physical Health, and Parental Well-Being of Females with Rett Syndrome

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

Research

Use of health services in the last year of life and cause of death in people with intellectual disability: a retrospective matched cohort study

People with intellectual disability were more likely to experience potentially preventable conditions at the end of their lives

Research

Intellectual disability in children conceived using assisted reproductive technology

The risk of intellectual disability was increased in children born after assisted reproductive technology in Western Australia from 1994 to 2002

Research

Young adults with intellectual disability transitioning from school to post-school: A literature review framed within the ICF

The purpose of this review was to describe literature relating to transition for young people with an intellectual disability and identify knowledge base gaps.

Research

Factors Influencing Postoperative Experiences in Adult Cochlear Implant Recipients: A Multistakeholder Perspective

To explore factors influencing postoperative experiences of adult cochlear implant (CI) recipients, determine the impact of each factor, and conceptualize recipients' postoperative journey.

Research

Characterizing Transdiagnostic Processes Underlying the Drive to Socially Engage: A Multimeasurement Factor Analytic Investigation

Altered drive to socially engage is a transdiagnostic feature across multiple psychopathologies. Yet, lack of clarity regarding specific processes that constitute social drive, along with insufficient measurement methods, has hindered understanding in this area. This study ascertained the feasibility of approximating difficulties within specific fine-grained social drive processes as proposed by 2 theoretical frameworks: “orienting,” “wanting,” “pursuing,” “liking,” “learning,” and “reticence” within a reward processing framework and “orienting,” “seeking and maintaining,” and “liking” within a social motivation framework.