Refining the phenotype of SINO syndrome: A comprehensive cohort report of 14 novel cases.

BACKGROUND: SINO syndrome (Spastic paraplegia, Intellectual disability, Nystagmus and Obesity) is a rare autosomal dominant condition caused by heterozygous variants in KIDINS220. A total of 12 individuals are reported, comprising eight with SINO and four with an autosomal recessive condition attributed to bi-allelic KIDINS220 variants. METHODS: In our international cohort, we have comprised 14 individuals, carrying 13 novel pathogenic KIDINS220 variants in heterozygous form. We assessed clinical and molecular data of our cohort and previously reported individuals and based on functional experiments reached a better understanding of the pathogenesis behind KIDINS220-related disease. RESULTS: Using fetal tissue and in vitro assays, we demonstrate that the variants generate KIDINS220 truncated forms that mislocalize in punctate intracellular structures, with decreased levels of the full-length protein, suggesting a trans-dominant negative effect. 92% had their diagnosis within three years, with symptoms of developmental delay, spasticity, hypotonia, lack of eye contact and nystagmus. We identified a KIDINS220 variant associated with fetal hydrocephalus and show that 58% of examined individuals present brain ventricular dilatation. We extend the phenotypic spectrum of SINO syndrome to behavioral manifestations not previously highlighted. CONCLUSION: Our study provides further insights into the clinical spectrum, etiology and predicted functional impact of KIDINS220 variants.

A pilot project harnessing surveillance systems to support clinicians providing clinical care for people diagnosed with hepatitis C in Victoria, Australia, September 2021 to 31 March 2022.

BackgroundActive follow-up of chronic hepatitis C notifications to promote linkage to care is a promising strategy to support elimination.AimThis pilot study in Victoria, Australia, explored if the Department of Health could follow-up on hepatitis C cases through their diagnosing clinicians, to assess and support linkage to care and complete data missing from the notification.MethodsFor notifications received between 1 September 2021 and 31 March 2022 of unspecified hepatitis C cases (i.e. acquired > 24 months ago or of unknown duration), contact with diagnosing clinicians was attempted. Data were collected on risk exposures, clinical and demographic characteristics and follow-up care (i.e. HCV RNA test; referral or ascertainment of previous negative testing or treatment history). Reasons for unsuccessful doctor contact and gaps in care provision were investigated. Advice to clinicians on care and resources for clinical support were given on demand.ResultsOf 513 cases where information was sought, this was able to be obtained for 356 (69.4%). Reasons for unsuccessful contact included incomplete contact details or difficulties getting in touch across three attempts, particularly for hospital diagnoses. Among the 356 cases, 307 (86.2%) had received follow-up care. Patient-management resources were requested by 100 of 286 contacted diagnosing clinicians.ConclusionsMost doctors successfully contacted had provided follow-up care. Missing contact information and the time taken to reach clinicians significantly impeded the feasibility of the intervention. Enhancing system automation, such as integration of laboratory results, could improve completeness of notifications and support further linkage to care where needed.

An Exploration of Online and In-Person Administration of the Kaufman Brief Intelligence Test, Second Edition (KBIT-2) in Children and Adolescents Being Evaluated for Autism Spectrum Disorder.

PURPOSE:  Most assessment tools used to diagnose and characterize autism spectrum disorder (ASD) were developed for in-person administration. The coronavirus disease 2019 (COVID-19) pandemic resulted in the need to adapt traditional assessment tools for online administration with only minimal evidence to support validity of such practices. METHODS: The current exploratory study compared scores from online administration of the Kaufman Brief Intelligence Test, Second Edition (KBIT-2) during the pandemic to scores derived from follow-up testing using traditional in-person administration. Participants were 47 children and adolescents (M age = 9.48 years, SD = 4.06; 68.10% male) who participated in a telehealth diagnostic evaluation for ASD that included online administration of the KBIT-2. Participants were invited to complete the KBIT-2 a second time during an in-person study visit. RESULTS: Pearson's correlation coefficients suggested acceptable to good reliability between online and in-person administration. Although most participants' online and in-person scores were within one standard deviation of each other, results suggested statistically significant differences between scores derived from the two modalities. Additionally, 19-26% of participants (depending on domain examined) had scores that differed by more than one standard deviation. Notably, all but one of these participants was under the age of 12 years. CONCLUSION: Findings suggest that online administration of the KBIT-2 is likely appropriate for older children and adolescents with ASD. However, additional research is needed to test online administration of intellectual assessments for children with ASD.

Mixed-methods examination of attitudes and behaviors related to COVID-19 vaccines among parents of children with autism and autistic adults.

Increased risks associated with Coronavirus disease 2019 (COVID-19) among individuals with autism spectrum disorder (ASD) combined with previous reports of heightened vaccine hesitancy among parents of children with ASD indicate the need for a better understanding of attitudes and behaviors related to COVID-19 vaccines among the ASD community. This study is the first to our knowledge to use a mixed-methods approach to understand attitudes toward COVID-19 vaccines among parents of children with ASD and autistic adults. Participants were 135 members of the ASD community residing in the state of Arizona (99 parents of children with ASD and 36 autistic adults) who responded to the third (Spring 2021) and fourth (Summer 2021) time points of a larger longitudinal online survey. Quantitative findings indicated that autistic adults had slightly more favorable attitudes toward COVID-19 vaccines than parents, and attitudes in both subsamples became more positive over time. However, both parents and autistic adults reported COVID-19 vaccine uptake that was consistent with or better than the general population at both time points. Thematic analysis of responses to open-ended questions identified five themes that characterized factors that contributed to participants' decisions about COVID-19 vaccinations, including: (1) Desiring a Return to Normalcy, (2) Protection of Self and Others, (3) Previous Experience with COVID-19 (4) Science and Medical Professionals,and (5) Skepticism Regarding Safety, Effectiveness, and Need. Current findings combined with emerging literature paint a relatively optimistic picture about COVID-19 vaccine acceptance in the ASD community.