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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.

Early detection of cerebral palsy (CP) risk is possible from 12 weeks corrected gestational age (CGA) using standardised assessments; however, up to half of children at risk are not referred early, missing out on early intervention. We investigated the barriers and facilitators to accessing early intervention from the perspective of parents of children who did not receive services by 6 months CGA.

The clinical, research and advocacy communities for Rett syndrome are striving to achieve clinical trial readiness, including having fit-for-purpose clinical outcome assessments. This study aimed to (1) describe psychometric properties of clinical outcome assessment for Rett syndrome and (2) identify what is needed to ensure that fit-for-purpose clinical outcome assessments are available for clinical trials.

To evaluate the associations between complex hip surgery and subsequent hospitalizations in children with intellectual disability, including a subset of children with cerebral palsy.

For individuals living with rare neurodevelopmental disorders, particularly those who are at the most severe end of the spectrum, standardized outcome measures may lack the sensitivity to capture small but meaningful changes. 

Estimate the global prevalence of neurodevelopmental impairment in children with Robin sequence (RS) at one year or more of age.

To describe the timing and causes of post-neonatally acquired cerebral palsy (PNN-CP) and map the implementation of relevant preventive strategies against cause-specific temporal trends in prevalence.

People with intellectual disability experience significant gaps in healthcare delivery resulting in poor health outcomes. Appropriately designed healthcare is required to meet the needs of this population and achieve better health outcomes. Little is known about the structure of healthcare delivery for people with intellectual disability and whether it is effective or cost-effective.

Menstruation can be complex and challenging to manage, including for those with intellectual disability. People with intellectual disability experience additional barriers that prevent adequate access to information and support. Parents play an important role in supporting young people with intellectual disability with menstruation.

Speech and language therapists' (SLT) practice with cultural and linguistic diverse (CALD) populations with acquired and congenital neurogenic communication disorders in Denmark and Sweden is becoming more urgent due to demographic changes.