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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.
CDKL5 deficiency disorder is a rare and severe developmental and epileptic encephalopathy that has profound effects on communication. It is essential that communication be measured accurately for upcoming gene therapy trials. The Communication Inventory Disability-Observer Reported was developed from a framework of communication derived from parent/caregiver interview data in consultation with disability and communication experts, and after reviewing concepts in existing measures.
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.
CDKL5 Deficiency Disorder (CDD) is a rare neurodevelopmental disorder characterised by early onset seizures combined with complex healthcare needs and developmental impairment that influence functional domains including communication. Communication is a high priority domain for families but currently used measures demonstrate floor effects.
This study aimed to (i) develop a decision tree to guide clinicians to use a core outcome set (COS) of chronic pain assessment tools specific to children and young people with cerebral palsy and (ii) pilot test the implementation of the decision tree and core set in clinical practice.
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.
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.
Many children and their families, especially those from priority populations, experience barriers to accessing high-quality early childhood health, education, social and legal services. Further, these families are often under-represented in service planning and research; hence innovations are not designed to meet their needs. Our aim is to codesign with families and the wider community, a Strength-based, Tiered, Accessible Resources and Supports for Kids (STARS for Kids) programme to optimise child development, parental mental well-being, and family psychosocial needs in the first 2000 days from pregnancy to start of school
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.