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Research focused on Down syndrome has increased in the last several years to advance understanding of the consequences of trisomy 21 (T21) on molecular and cellular processes and, ultimately, on individuals with Down syndrome. The Trisomy 21 Research Society (T21RS) is the premier scientific organization for researchers and clinicians studying Down syndrome.
To explore patterns of parafunction, and bruxism, and its relationships with genotype and snoring in individuals with Rett syndrome.
A single-blind randomised control trial investigated the effectiveness of the Learn, Engage and Play (LEaP) playgroup. Seventy-one children with developmental delay were randomly allocated to an 8-week LEaP playgroup or control group and followed up at 12 and 28 weeks.
Playgroups are community-based programs for children and families aiming to improve child outcomes, enhance family and community networks and increase parenting capacity. Despite the prevalence of playgroups in Australian communities there is a lack of research clearly articulating the key components of playgroups, specifically from the perspective of parents attending these groups.
The Neurological Hand Deformity Classification (NHDC) is an impairment-based tool that classifies hand deformity into one of two ordinal scales: flexion or extension deformities. Classification is made from live observation or from recorded video footage. Differentiation between the levels is determined by wrist position and wrist and finger movement.
Cerebral palsy (CP) should not be considered as a diagnosis but as a label; it is an umbrella term, primarily affecting posture and mobility. The definition is not sufficiently precise to guarantee agreement as to which patients to include under this label, but the additional inclusion criteria required are not yet internationally standardised.
Epidemiology of cerebral palsy (CP) aims to describe the frequency of the condition in a population and to monitor its changes over time, and a guide to the management of patients. Classification of CP is an important step toward describing more homogenous subgroups of persons with CP.
Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting predominantly females and associated with variants in the MECP2 gene. Recent success in clinical trials have resulted in an expanded use of the Rett Syndrome Behaviour Questionnaire (RSBQ) for clinical and research purposes.
Parents of children with physical/mental health and/or neurodevelopmental conditions often need to make disclosure decisions for their child. Disclosure can bring benefits (e.g., support) but can also risk harm (e.g., stigma). This systematic review aimed to consolidate research regarding parents' disclosure experiences to better understand how to support parents during this process.
Estimate the global prevalence of neurodevelopmental impairment in children with Robin sequence (RS) at one year or more of age.