"You can hide it if you want to, you can let it be seen if you want to": A qualitative study of the lived experiences of Australian adults with type 1 diabetes using the Omnipod DASH® system.

Aims: Understanding the lived experience of using a tubeless insulin pump and how this differs compared to usual care (tubed insulin pump therapy (IPT) vs multiple daily injections (MDI)).

Methods: Interviews were conducted after 12-weeks of using the Omnipod DASH Insulin Management System (Insulet, Acton, MA) and analysed using thematic analysis.

Results: Fifty-eight adults (35 female; mean age 42;SD 13 years; 35 previous MDI) were interviewed.

Deep brain stimulation in a pediatric dystonia patient with cochlear implants and mitochondrial disorder: novel application of a frameless stereotactic system and navigating the anesthesia choice and neurosurgical complexities. Illustrative case.

Background: This report presents a case of medically refractory dystonia in a pediatric patient successfully treated with bilateral subthalamic nucleus (STN) deep brain stimulation (DBS) while under general anesthesia by using microelectrode recordings (MERs) with intraoperative computed tomography (CT).

Observations: The patient was an 18-year-old female with primary dystonia secondary to mitochondrial Leigh syndrome. Her past medical history was significant for complex partial epilepsy and hearing loss treated with cochlear implants.

Autism and developmental disability caused by KCNQ3 gain-of-function variants.

Objective: Recent reports have described single individuals with neurodevelopmental disability (NDD) harboring heterozygous KCNQ3 de novo variants (DNVs). We sought to assess whether pathogenic variants in KCNQ3 cause NDD and to elucidate the associated phenotype and molecular mechanisms.

Methods: Patients with NDD and KCNQ3 DNVs were identified through an international collaboration.

WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features.

We report 15 individuals with de novo pathogenic variants in WDR26. Eleven of the individuals carry loss-of-function mutations, and four harbor missense substitutions. These 15 individuals comprise ten females and five males, and all have intellectual disability with delayed speech, a history of febrile and/or non-febrile seizures, and a wide-based, spastic, and/or stiff-legged gait.

Preservation of microelectrode recordings with non-GABAergic drugs during deep brain stimulator placement in children.

Object: Deep brain stimulation (DBS) has become accepted therapy for intractable dystonia and other movement disorders. The accurate placement of DBS electrodes into the globus pallidus internus is assisted by unimpaired microelectrode recordings (MERs). Many anesthetic and sedative drugs interfere with MERs, requiring the patient to be awake for target localization and neurological testing during the procedure.

Utility and safety of rituximab in pediatric autoimmune and inflammatory CNS disease.

Objective: To assess the utility and safety of rituximab in pediatric autoimmune and inflammatory disorders of the CNS.

Methods: Multicenter retrospective study.

Results: A total of 144 children and adolescents (median age 8 years, range 0.

The spectrum of movement disorders in children with anti-NMDA receptor encephalitis.

Background: Movement disorders are frequent but difficult to characterize in patients with anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis.

Methods: The phenomenology of movement disorders was characterized after a detailed examination of children with anti-NMDAR-encephalitis.

Results: We studied 9 children (5 females), ages 3-14 years, with confirmed anti-NMDAR-encephalitis.

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size.

Background: Deletion and the reciprocal duplication in 16p11.2 were recently associated with autism and developmental delay.

Method: We indentified 27 deletions and 18 duplications of 16p11.

Medullary sponge kidney and urinary calculi: aeromedical concerns.

Medullary sponge kidney (MSK) is a benign disorder associated with a lifetime risk of renal stones in 60% of patients. Patients frequently have episodic painless hematuria, but are often otherwise asymptomatic unless renal calculi or infections complicate the disease. Nephrolithiasis is a relative, but frequently enforced, contraindication to space or other high-performance flight.