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Research

Septo-optic dysplasia (SOD) is a congenital disorder affecting 1 in 10,000 births, defined by the presence of at least two of a clinical triad, consisting of optic nerve hypoplasia, midline brain defects and pituitary hormone deficiency. Children with SOD may have vision impairment, hormonal deficiencies, developmental disorders, or epilepsy, but the clinical picture is highly variable. The complexity of SOD, its interplay with family factors, and the need for multiple specialty commitments can make the diagnosis period a challenging time for families.

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To investigate the feasibility of implementing recommendations of the consensus statement for the Prevention and Management of Respiratory Disease in children with severe cerebral palsy (CP) via RESPiratory hospital Admissions in children with cerebral palsy: a feasibility randomized Controlled Trial (RESP-ACT).

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Intellectual and developmental disabilities (IDD) are varied in their nature and presentation. Barriers to oral healthcare are reported in studies of general populations with IDD but these may not reflect the barriers experienced by individuals with rare disorders such as Rett syndrome.

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The transport of sick newborn infants with respiratory distress leads to unwanted stress at time of physiological instability. There is dearth of studies to evaluate these stress levels. This pilot prospective observational before-after study aimed to evaluate the plasma cortisol levels (as surrogate marker of stress) in infants with respiratory distress during different phases of neonatal transport.

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Increasingly, preterm-born children are entering adulthood as survival at earlier gestational ages improves. However, there is little understanding of the lived experience in preterm-born adults.

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Clinical utility of home polysomnography in children with neuromuscular disorders is limited by lack of evidence that sleep-disordered breathing can be reliably identified and inability to diagnose hypoventilation because carbon dioxide is not measured.

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In this population-based cohort that included 2,084 children with autism aged ≤6 years, over one-third met the criteria for motor difficulties

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Gastrostomy was associated with health benefits including reduced all-cause and epilepsy hospitalizations, but was not protective against acute LRTI

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The U-PART intervention was found to be feasible and effective in the short term in girls and women with Rett Syndrome

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In this article, we examine the utility of a transdiagnostic, dimensional approach to very early identification and intervention for infants at risk of neurodevelopmental disorders