Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities.

Purpose: Protein arginine methyltransferase 7 (PRMT7) is a member of a family of enzymes that catalyzes the methylation of arginine residues on several protein substrates. Biallelic pathogenic PRMT7 variants have previously been associated with a syndromic neurodevelopmental disorder characterized by short stature, brachydactyly, intellectual developmental disability, and seizures. To our knowledge, no comprehensive study describes the detailed clinical characteristics of this syndrome.

An intervention to improve the self-efficacy of key workers to support parental wellbeing at an early childhood intervention service in Australia: a stepped wedged randomized cluster trial.

Purpose: It is well documented parents of children who have a disability are at an increased risk of poor mental health and wellbeing. A capacity building program designed to build key worker self-efficacy to support the mental health of parents accessing early childhood intervention services (ECIS) for their child was trialled.

Materials And Methods: A stepped-wedge cluster randomised trial design was utilised to deliver and evaluate a 12-month intervention program, comprising tailored professional development, resource development and sustainability measures.

Genomics in Cerebral Palsy phenotype across the lifespan: Comparison of diagnostic yield between children and adult population.

Purpose: The presentation and underlying etiology of Cerebral Palsy (CP) in general are heterogenous. Clinical features present differently in pediatric versus adult patient populations. Many metabolic and genetic conditions present with clinical symptoms suggestive of CP.

Understanding key worker experiences at an Australian Early Childhood Intervention Service.

The delivery of family-centred practice (FCP) within Early Childhood Intervention Services (ECISs) for young children with a disability or development delay conceptualises that children's learning environments, parenting, family and community supports intersect to have the greatest impact on the developing child. The transdisciplinary key worker model is considered a best-practice approach within ECISs whereby staff work collaboratively across disciplinary boundaries to plan and implement services for children and their families. Research suggests families who have a key worker have better relationships with services, fewer unmet needs, better morale, more information about services, higher parental satisfaction and more parental involvement than those not receiving this service.

High rate of hypertension in patients with m.3243A>G MELAS mutations and POLG variants.

Animal studies suggest that decreased vascular mitochondrial DNA copy number can promote hypertension. We conducted a chart review of blood pressure and hemodynamics in patients with either mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS, n = 36) or individuals with variants in the mitochondrial DNA polymerase gamma (POLG, n = 26). The latter included both pathogenic variants and variants of unknown significance (VUS).

CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum.

Purpose: Pathogenic variants in the chromatin organizer CTCF were previously reported in seven individuals with a neurodevelopmental disorder (NDD).

Methods: Through international collaboration we collected data from 39 subjects with variants in CTCF. We performed transcriptome analysis on RNA from blood samples and utilized Drosophila melanogaster to investigate the impact of Ctcf dosage alteration on nervous system development and function.

A Capacity Building Program to Improve the Self-Efficacy of Key Workers to Support the Well-Being of Parents of a Child With a Disability Accessing an Early Childhood Intervention Service: Protocol for a Stepped-Wedge Design Trial.

Background: Early childhood intervention services support children with disabilities or developmental delays from birth to school entry with the aim to achieve optimal outcomes for children and their families. A transdisciplinary approach to delivering early childhood intervention, particularly the key worker model, is considered the best practice, where allied health professionals (eg, speech pathologists, physiotherapists, occupational therapists, psychologists, and special educators) and the family work together as a collaborative team to share information, knowledge, and skills across disciplinary boundaries, with a key worker coordinating and delivering most of the intervention to achieve the goals for the child and their family. Initial qualitative research demonstrated parents want their key worker to also support their mental well-being.

A Rights-Based Approach for Service Providers to Measure the Quality of Life of Children with a Disability.

Background: This paper identifies the best instruments for service providers to measure the quality of life (QoL) of children with a disability, with a focus on their alignment with the Convention on the Rights of Persons with a Disability (CRPD).

Methods: This study reviewed systematic reviews to identify generic QoL instruments for children and adolescents, followed by an appraisal process using newly developed criteria. QoL instruments with a health status, functioning, and condition-specific focus were excluded.

A Cultural Competence Organizational Review for Community Health Services: Insights From a Participatory Approach.

Cultural competence is an important aspect of health service access and delivery in health promotion and community health. Although a number of frameworks and tools are available to assist health service organizations improve their services to diverse communities, there are few published studies describing organizational cultural competence assessments and the extent to which these tools facilitate cultural competence. This article addresses this gap by describing the development of a cultural competence assessment, intervention, and evaluation tool called the Cultural Competence Organizational Review (CORe) and its implementation in three community sector organizations.

Teeth Tales: a community-based child oral health promotion trial with migrant families in Australia.

Objectives: The Teeth Tales trial aimed to establish a model for child oral health promotion for culturally diverse communities in Australia.

Design: An exploratory trial implementing a community-based child oral health promotion intervention for Australian families from migrant backgrounds. Mixed method, longitudinal evaluation.

An exploratory trial implementing a community-based child oral health promotion intervention for Australian families from refugee and migrant backgrounds: a protocol paper for Teeth Tales.

Introduction: Inequalities are evident in early childhood caries rates with the socially disadvantaged experiencing greater burden of disease. This study builds on formative qualitative research, conducted in the Moreland/Hume local government areas of Melbourne, Victoria 2006-2009, in response to community concerns for oral health of children from refugee and migrant backgrounds. Development of the community-based intervention described here extends the partnership approach to cogeneration of contemporary evidence with continued and meaningful involvement of investigators, community, cultural and government partners.