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Showing results for "autism"

Research

Daytime sleepiness and emotional and behavioral disturbances in Prader-Willi syndrome

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.

Research

Family satisfaction following spinal fusion in Rett syndrome

We evaluated family satisfaction following spinal fusion in girls with Rett syndrome

News & Events

Unpacking PACT - a program supporting child communication

In this new blog, Senior Speech Pathologist and PACT therapist/trainer Sally Grauaug discusses the benefits of PACT, how it works and how clinicians become certified PACT therapists.

Research

Psychometric properties of QI-Disability in CDKL5 Deficiency Disorder: Establishing readiness for clinical trials

CDKL5 Deficiency Disorder (CDD) is a rare genetic disorder with symptoms of epilepsy, developmental impairments, and other comorbidities. Currently, there are no outcome measures for CDD with comprehensive evidence of validation. This study aimed to evaluate the psychometric properties of the Quality of Life Inventory-Disability (QI-Disability) in CDD. Quality of Life Inventory-Disability was administered to 152 parent caregivers registered with the International CDKL5 Disorder Database (ICDD).

Research

Negative impact of insomnia and daytime sleepiness on quality of life in individuals with the cyclin-dependent kinase-like 5 deficiency disorder

Cyclin-dependent kinase-like 5 (CDKL5) gene pathogenic variants result in CDKL5 deficiency disorder (CDD). Early onset intractable epilepsy and severe developmental delays are prominent symptoms of CDD. Comorbid sleep disturbances are a major concerning symptom for families.

Research

Initial Validation and Reliability of the CDKL5 Deficiency Disorder Hand Function Scale (CDD-Hand)

Pathogenic variants in the CDKL5 gene result in CDKL5 deficiency disorder (CDD), which is characterized by early-onset epilepsy, severe developmental delay, and often, cortical visual impairment. Validated clinical outcome measures are needed for future clinical trials to be successful. This study aimed to adapt the Rett Syndrome Hand Function Scale for CDKL5 deficiency disorder and evaluate its feasibility, acceptability, content validity, and reliability.

Research

Validating the rett syndrome gross motor scale

The Rett Syndrome Gross Motor Scale could be an appropriate measure of gross motor skills in clinical practice and clinical trials

Research

Family satisfaction following spinal fusion in Rett syndrome

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

Research

Fetal Alcohol Spectrum Disorder in the Australian Education System: Knowledge, attitudes, needs, and practices

Amy Carol Finlay-Jones Bower BPsych(Hons), MPsych(Clinical), MHealthEcon, PhD (Clin Psych) MBBS MSc PhD FAFPHM DLSHTM FPHA Head, Early

Research

Movement difficulties in children with neurodevelopmental disorders: considering a transdiagnostic approach to classification

Children with neurodevelopmental disorders often experience difficulties in acquiring and executing movement skills. Although the motor profiles of neurodivergent children frequently overlap, rigid conceptual distinctions between diagnostic labels have been imposed by traditional categorical approaches to taxonomy. An alternative transdiagnostic approach is proposed to better represent the similarities between presentations.