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Telepsychiatry has been rapidly adopted to help control the spread of coronavirus. Clinicians have raised concerns over this for individuals diagnosed with autism spectrum disorder. The remote delivery of psychological interventions in particular requires further attention as their in-person delivery has autism spectrum disorder--associated challenges which overlap with the challenges of telepsychiatry broadly (i.e. beyond autism spectrum disorder). Autistic service-users (aged 15-18 years, n = 6) and clinicians working with this client group (n = 8) were therefore interviewed about their experience of remote psychological interventions during the pandemic. The sample size was determined using preregistered thematic saturation calculations. Thematic analysis of responses identified challenges/barriers, benefits, facilitators, and factors perceived to cause variability in experiences of remote delivery. These broadly echoed those identified in existing literature, but their underlying reasons had not been explored before and some were novel. Novel findings mostly surrounded difficulties navigating a new social system online, and the intensity of the social interaction feeling reduced remotely. Themes were broadly the same between young people and clinicians, aside from subtle differences. For example, young people provided distinct reasons for some of the perceived benefits. Most participants advocated for the provision of hybrid delivery post-pandemic. Implications of findings are discussed.

Dystroglycanopathies are a subtype of congenital muscular dystrophy of varying severity that can affect the brain and eyes, ranging from Walker-Warburg syndrome with severe brain malformation to milder congenital muscular dystrophy presentations with affected or normal cognition and later onset. Mutations in dystroglycanopathy genes affect a specific glycoepitope on α-dystroglycan; of the 14 genes implicated to date, LARGE encodes the glycosyltransferase that adds the final xylose and glucuronic acid, allowing α-dystroglycan to bind ligands, including laminin 211 and neurexin. Only 11 patients with LARGE mutations have been reported. We report the clinical, neuroimaging, and genetic features of 4 additional patients. We confirm that gross deletions and rearrangements are important mutational mechanisms for LARGE. The brain abnormalities overshadowed the initially mild muscle phenotype in all 4 patients. We present the first comprehensive postnatal neuropathology of the brain, spinal cord, and eyes of a patient with a homozygous LARGE mutation at Cys443. In this patient, polymicrogyria was the predominant cortical malformation; densely festooned polymicrogyria were overlaid by a continuous agyric surface. In view of the severity of these abnormalities, Cys443 may be a functionally important residue in the LARGE protein, whereas the mutation p.Glu509Lys of Patient 1 in this study may confer a milder phenotype. Overall, these results expand the clinical and genetic spectrum of dystroglycanopathy.

When cases of suspected abusive head trauma are adjudicated in courts of law, one of the theories often presented by defense experts is that a normal, healthy infant or child suddenly neurologically deteriorates or dies several weeks to months after birth or minor injury because a preceding subdural hematoma spontaneously rebleeds after a minor traumatic event. This article reviews the underlying scientific basis of subdural hematoma rebleeding as it applies to this courtroom theory., Author(s): Barbara Knox[sup.1] [sup.2] , Lucy B. Rorke-Adams[sup.3] [sup.4] , Francois M. Luyet[sup.1] [sup.2] Author Affiliations: (1) Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, [...]