Agreement between parents' and clinical researchers' ratings of behavioral problems in children with fragile X syndrome and chromosome 15 imprinting disorders.

Background: Despite the increasing number of clinical trials involving children with neurodevelopmental disorders, appropriate and objective outcome measures for behavioral symptoms are still required.

Aim: This study assessed the agreement between parents' and clinical researchers' ratings of behavioral problem severity in children with fragile X syndrome (FXS) and chromosome 15 imprinting disorders.

Methods And Procedures: The cohort comprised 123 children (64% males), aged 3-17 years, with FXS (n = 79), Prader-Willi (PWS; n = 19), Angelman (AS; n = 15), and Chromosome 15q duplication (n = 10) syndromes.

The ostrich approach - Prognostic avoidance, strategies and barriers to assessing older hospital patients' risk of dying.

Background: Predicting older patients' life expectancy is an important yet challenging task. Hospital aged care assessment teams advise treating teams on older patients' type and place of care, directly affecting quality of care. Yet, little is known about their experiences with prognostication.

Haploinsufficiency of SF3B2 causes craniofacial microsomia.

Craniofacial microsomia (CFM) is the second most common congenital facial anomaly, yet its genetic etiology remains unknown. We perform whole-exome or genome sequencing of 146 kindreds with sporadic (n = 138) or familial (n = 8) CFM, identifying a highly significant burden of loss of function variants in SF3B2 (P = 3.8 × 10), a component of the U2 small nuclear ribonucleoprotein complex, in probands.

The Cost of Raising Individuals with Fragile X or Chromosome 15 Imprinting Disorders in Australia.

The study characterised differences in costs associated with raising a child between four rare disorders and examined the associations between these costs with clinical severity. Caregivers of 108 individuals with Prader-Willi, Angelman (AS), Chromosome 15q Duplication and fragile X (FXS) syndromes completed a modified Client Services Receipt Inventory and participants completed intellectual/developmental functioning and autism assessments. AS incurred the highest yearly costs per individual ($AUD96,994), while FXS had the lowest costs ($AUD33,221).

Understanding end-of-life care in Australian hospitals.

Objective To explore end-of-life care in the ward and intensive care unit (ICU) environment in nine Australian hospitals in a retrospective observational study. Methods In total, 1693 in-hospital deaths, 356 in ICU, were reviewed, including patient demographics, advance care plans, life-sustaining treatments, recognition of dying by clinicians and evidence of the palliative approach to patient care. Results Most patients (n =1430, 84%) were aged ≥60 years, with a low percentage (n =208, 12%) having an end-of-life care plan on admission.