SETD2 belongs to the family of histone methyltransferase proteins and has been associated with three nosologically distinct entities with different clinical and molecular features: Luscan-Lumish syndrome (LLS), intellectual developmental disorder, autosomal dominant 70 (MRD70), and Rabin-Pappas syndrome (RAPAS). LLS [MIM #616831] is an overgrowth disorder with multisystem involvement including intellectual disability, speech delay, autism spectrum disorder (ASD), macrocephaly, tall stature, and motor delay. RAPAS [MIM #6201551] is a recently reported multisystemic disorder characterized by severely impaired global and intellectual development, hypotonia, feeding difficulties with failure to thrive, microcephaly, and dysmorphic facial features. Other neurologic findings may include seizures, hearing loss, ophthalmologic defects, and brain imaging abnormalities. There is variable involvement of other organ systems, including skeletal, genitourinary, cardiac, and potentially endocrine. Three patients who carried the missense variant p.Arg1740Gln in SETD2 were reported with a moderately impaired intellectual disability, speech difficulties, and behavioral abnormalities. More variable findings included hypotonia and dysmorphic features. Due to the differences with the two previous phenotypes, this association was then named intellectual developmental disorder, autosomal dominant 70 [MIM 620157]. These three disorders seem to be allelic and are caused either by loss-of-function, gain-of-function, or missense variants in the SETD2 gene. Here we describe 18 new patients with variants in SETD2, most of them with the LLS phenotype, and reviewed 33 additional patients with variants in SETD2 that have been previously reported in the scientific literature. This article offers an expansion of the number of reported individuals with LLS and highlights the clinical features and the similarities and differences among the three phenotypes associated with SETD2.

People with Intellectual and Developmental Disabilities (IDDs) are disproportionately vulnerable to poorer oral health due to their complex needs specifically sensory processing difficulties. This leads to increased maladaptive behaviours and psychophysiology responses of dental anxiety amplified by the overstimulating aspects of the dental environment. Although, there is a growing body of evidence to suggest that sensory adaptions are an effective strategy for individuals with IDDs in a wide range of settings, there is a lack of high-quality evidence detailing the effectiveness in a dental setting. The objective of this review is to assess the effectiveness of sensory adaptive dental environments (SADE) to reduce dental anxiety, corresponding negative behaviours and psychophysiology responses in children and young people with IDDs. The systematic review will include all Randomized Controlled Trials (RCTs) that investigate the effectiveness of SADE compared to control (no intervention), waitlist or usual care (regular dental environment) to reduce dental anxiety and the corresponding negative behaviours and psychophysiology responses in children and young people (upto the ages of 24 years) with IDDs. This review will be conducted according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Databases including MEDLINE (Ovid), The Cochrane Library, Embase, Google Scholar, Web of Science and OT Seeker will be searched using appropriate keywords. Additionally, citation searching will be conducted. Screening based on titles and abstracts will be done after de-duplication, followed by full-text reading for selection based on the inclusion criteria. Data extracted from the included studies will be tabulated and assessed for risk of bias. If applicable, a meta-analysis of the pooled data will be conducted. The review is registered with PROSPERO (CRD42022322083).

OBJECTIVE: To critically appraise relevant literature on the lived experiences of registered nurses caring for adults with intellectual disability in the acute care setting in Australia to determine current knowledge and gaps in the literature.
BACKGROUND: People with intellectual disability have the right to the highest attainable health care the same as everyone else. However, inequities still exist in the delivery of health care across the globe, including Australia that result in poorer health outcomes for this population group. Part of the problem is a lack of understanding of the complexities of ID care due to an absence of ID specific content in undergraduate curricula.
METHODS: Integrative literature review.
METHODS: Electronic databases were searched for relevant empirical and theoretical literature. Additional articles were found by reviewing reference lists of selected articles resulting in ten articles for review. Selected articles were critically appraised using JBI critical appraisal tools. Data were analysed using comparative thematic analysis. PRISMA checklist completed the review.
RESULTS: Two main themes emerged from the data that informed the gap in knowledge: (a) Defining nursing practice; and (b) Confidence to practice.
CONCLUSIONS: There was limited qualitative research published on the topic. International studies revealed that a lack of understanding of the ID condition due to inadequate education left registered nurses feeling underprepared, unsupported and struggling to provide optimal care. No studies were located on the phenomenon within the Australian context. A study exploring the lived experiences of RNs in Australia is needed to offer a deeper understanding of the phenomenon that will help inform practice.
CONCLUSIONS: Including ID care in national undergraduate and postgraduate nursing curricula must become a nursing educational and professional priority to support nurses more fully in their practice to ensure patients with ID receive the highest attainable standard of nursing care.

The FOXG1 syndrome is emerging as a relative new entity in paediatric neurology. We report a boy with acquired microcephaly, mental retardation and a thin genu of the corpus callosum. The combination of these findings led to mutation analysis of FOXG1. The patient was found to be heterozygous for a novel mutation in FOXG1, c.506dup (p.Lys170GInfsX285), which occurred de novo. This frameshift mutation disturbs the three functional domains of the FOXG1 gene. Hypo- or agenesis of the anterior corpus callosum in combination with acquired microcephaly and neurologic impairment can be an important clue for identifying patients with a mutation in FOXG1.