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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.

Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) is an ultrarare genetic condition causing developmental epileptic encephalopathy characterized by seizures and motor and intellectual disabilities. No disease-modifying therapies are available, and treatments focus mainly on symptom management to improve quality of life.

Shared decision-making between patients and primary healthcare professionals positively impacts health outcomes. However, people with intellectual disability face additional barriers and require supported shared decision-making (SSDM) to participate. Little is known about how healthcare professionals use SSDM with this population. This paper explores the facilitators and barriers experienced, and strategies/resources employed by healthcare professionals working with people with intellectual disability.

General movements (GMs) are part of the spontaneous movement repertoire and are present from early fetal life onwards up to age five months. GMs are connected to infants' neurological development and can be qualitatively assessed via the General Movement Assessment. In particular, between the age of three to five months, typically developing infants produce fidgety movements and their absence provides strong evidence for the presence of cerebral palsy.

It is now well accepted that germline or de novo genetic alterations predispose to cancer development, especially during childhood. Among them, constitutive trisomy 21, also known as Down syndrome (DS), has been shown to predispose to acute leukemia affecting both the myeloid (ML-DS) and lymphoid (DS-ALL) lineages. ML-DS is associated with a good prognosis compared to children without DS, due in part to a higher sensitivity to conventional chemotherapy.

Seven female individuals with multiple congenital anomalies, developmental delay and/or intellectual disability have been found to have a genetic variant of uncertain significance in the mediator complex subunit 12 gene. The functional consequence of this genetic variant in disease is undetermined, and insight into disease mechanism is required.