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

PURPOSE: Spastic paraplegia, intellectual disability, nystagmus, and obesity syndrome (SINO) is a rare autosomal dominant condition caused by heterozygous variants in KIDINS220. A total of 12 individuals are reported, comprising 8 with SINO and 4 with an autosomal recessive condition attributed to biallelic KIDINS220 variants. METHODS: In our international cohort, we have included 14 individuals, carrying 13 novel pathogenic KIDINS220 variants in heterozygous form. We assessed the clinical and molecular data of our cohort and previously reported individuals and, based on functional experiments, reached a better understanding of the pathogenesis behind the 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. A total of 92% had their diagnosis within 3 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.

A pilot study of home-based genetic testing completion rate in telegenetics cancer clinics in West Virginia Appalachia.

Telegenetics has shifted some genetic testing performance to the patient's own home, with the patient collecting his/her own sample. Little is known regarding the rate of test completion of such home-based genetic testing. This study compared the completion rate of home-based genetic tests before and after a reminder system was implemented. In the pre-reminder group, we reviewed medical records for patients who were seen via telegenetics and agreed to complete genetic testing using an at-home test kit. In the reminder group, a prospective analysis of the genetic test completion rate was performed taking a clinical quality improvement approach where three reminders were provided for patients who had not submitted their at-home genetic testing. Our study included 94 patients' records: 46 pre-reminders and 48 reminders. The lab received 24 patient samples (52.2%) in the pre-reminder group. In the reminder group, 30 patients returned their kits (62.5%). Despite a higher percentage of patients completing their test in the reminder group, there was no statistically significant difference between the pre-reminder and reminder groups. The rate of test completion in our pilot test was statistically similar between the two groups, but the reminder group was trending toward a higher percent of completion which may be clinically meaningful.

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.

Adapting the PEERS® for Young Adults Program for Autistic Adults across the Lifespan.

The Program for the Education and Enrichment of Relational Skills (PEERS®) is an evidence-based intervention developed for autistic individuals to support social communication, peer interactions, independence, and interpersonal relationships. Despite a demonstrated effectiveness for young autistic individuals in the US and several other countries, PEERS has yet to be modified to support the needs of autistic adults across the lifespan. The present study describes how our team sought autistic voices to adapt PEERS for adults of any age. Specifically, we aimed to address the needs of middle-aged and older adults and adapt the curriculum to be more neurodiversity-affirming. Between two cohorts that completed the program consecutively, we evaluated the acceptability of the adapted PEERS program and made refinements based on feedback from autistic participants and their study partners. Results indicated that Cohort 2 reported higher satisfaction with the PEERS components and overall program than Cohort 1, suggesting effective refinement. We present a framework of adaptations that more specifically address the needs of middle-aged and older adults in a neurodiverse-affirming way compared to previous iterations. Our approach to implementing an adapted PEERS curriculum across the adult lifespan may serve as a model for improved clinical care and cultivate the acceptance of neurodiversity in the interpersonal domains of autistic adults' lives.

Identity change of late-deafened adults after receiving cochlear implants.

PURPOSE: The aim of this research was to understand how adults reconceptualise their identity when experiencing hearing loss as an adult, and how their identity might change with a cochlear implant. MATERIALS AND METHODS: Using an online survey administered through cochlear implant social media groups, with follow-up semi-structured interviews, participants answered questions about their hearing loss and cochlear implant experiences. Forty-four people answered the survey and 16 participated in an in-depth interview. All were older than 18 years, once had heard, became deafened in adulthood and had at least one cochlear implant. RESULTS: The decision to have a cochlear implant often meant acknowledging they were no longer a hearing person. After having an implant four themes emerged. (1) Some participants maintained a hearing identity through hearing loss and after cochlear implantation, while others returned to their hearing identity. (2) Others acknowledged a confused identity, neither deaf nor hearing. In unexpected findings, (3) during the progression of hearing loss, some participants had identified as hearing but could not hear, however after implantation, they became deaf people who could hear. (4) Furthermore, after implantation, some participants identified as disabled when they had not done so when less able to hear. CONCLUSION: Given the prevalence of hearing loss in later life, it is important to understand the way these adults understand their identity through the progression of hearing loss and after becoming cochlear implant recipients. The belief people have of themselves impacts healthcare choices and affects their commitment to ongoing rehabilitation.

Rehabilitation may often be overlooked by hearing healthcare providers, but it is a critical component of hearing healthcareHearing healthcare providers need rehabilitation strategies which recognise psychosocial issues impacting late-deafened adults and include counselling to help individuals cope with stigma and identity issues during different stages of hearing loss and cochlear implantationHearing rehabilitation may overlook concepts of identity, although identity is a critical part of living with hearing lossThe way a person identifies is likely to impact on their approach to rehabilitation.

Consistency between parent report and direct assessment of development in toddlers with autism spectrum disorder and other delays: Does sex assigned at birth matter?

The current study examined differences between parent report and diagnostician direct assessment of receptive language, expressive language, and fine motor abilities in toddlers with autism spectrum disorder (ASD) and other delays. Additionally, this study examined whether parent-diagnostician consistency varied by child diagnosis and sex assigned at birth (SAB). Initial mixed analysis of variances (ANOVAs) were conducted using data from a sample of 646 toddlers to examine whether parent-diagnostician consistency differed by child diagnosis. Matched samples (using child age, SAB, and nonverbal IQ) were then created within each diagnostic group and mixed ANOVAs were conducted to examine if consistency was similar in matched diagnostic subsamples and whether it differed by SAB. Findings from the full sample mostly replicated previous research that has documented consistency between parent report and direct observation regardless of child diagnosis. However, when examined in matched diagnostic subgroups, more nuanced patterns were observed. Parent report of receptive language was lower in ASD and ASD features subgroups and parent report of fine motor skills was lower than direct observation in the ASD, ASD features, and developmental delay groups. When examining the moderating effect of SAB, only expressive language was impacted for children in the ASD group. Results indicate the importance of considering child demographic characteristics and that child SAB may impact parent report and/or diagnostician perception of expressive language.

Examination of Clinical and Assessment Type Differences Between Toddlers with ASD from Multiplex and Simplex Families.

Few studies have examined differences in autism spectrum disorder (ASD) phenotype between children from multiplex and simplex families at the time of diagnosis. The present study used an age- and gender-matched, community-based sample (n = 105) from the southwestern United States to examine differences in ASD symptom severity, cognitive development, and adaptive functioning. No significant differences between children from multiplex and simplex families were observed. Exploratory analysis revealed that parents underreported receptive and expressive language and fine motor skills compared to professional observation, especially among children from multiplex families. These findings suggest that diagnosticians may need to consider family structure when choosing and interpreting assessments of receptive language, expressive language, and fine motor skills.

Does theory of mind performance differ in children with early-onset and regressive autism?

A deficit in theory of mind (ToM), or the ability to infer the mental states of others, has been implicated as one of the major characteristics of Autism Spectrum Disorder (ASD); however, little attention has been devoted to possible differences in ToM ability within ASD. The current study examined ToM performance in children with early-onset autism and regressive autism in comparison to typically developing children. Results indicated that children in the regressive autism group performed significantly better than the early-onset autism group on the non-verbal appearance-reality task. Additionally, Fisher's exact tests indicated a pattern of lowest scores in the early-onset group and highest scores in the typically developing group, whereas the regressive autism group tended to score in between the early-onset and typically developing groups. The apparent heterogeneity in ToM performance within ASD could account for the lack of universality in ToM ability found in previous studies.

A qualitative examination of the impact of the COVID-19 pandemic on children and adolescents with autism and their parents.

BACKGROUND: The unprecedented challenges introduced by the Coronavirus disease 2019 (COVID-19) pandemic may be amplified for children with autism spectrum disorder (ASD) and their families. AIMS: The current study aimed to describe the experiences of children with ASD and their families during the pandemic and to identify the needs of this community during emergency situations. METHODS AND PROCEDURES: Participants were 122 parents of 122 children and adolescents (aged 3-18 years; one parent per family participated) with ASD living in Arizona, USA who participated in the first time point (July/August 2020) of a larger longitudinal survey study. A qualitative approach based in grounded theory methodology was used to analyze six open-ended survey questions. OUTCOMES AND RESULTS: The resulting conceptual model included a core category, Longing for Stability, and four main categories: Public Health Measures Yielding New Challenges and Unexpected Gains, Experiencing Abrupt Changes across Developmental Domains, Changing Family Dynamics, and Protective Factors. CONCLUSIONS: Findings add to limited research examining whether, and how, emergency events uniquely impact the ASD community, identifying potential methods by which services can be proactively adapted to best support the needs of children with ASD.

The prevalence of non-alcoholic fatty liver disease and metabolic syndrome in obese children.

BACKGROUND AND AIM: In the context of present epidemic of childhood obesity, we aimed to find the prevalence of nonalcoholic fatty liver disease (NAFLD) and metabolic syndrome (MS) in a cohort of obese children. METHODOLOGY: Retrospective chart analysis of 700 obese children was done for their anthropometric and biochemical investigations. RESULTS: Some 15.4% (9.8% girls, 22% boys) subjects had NAFLD (ALT > 40 IU/L) after excluding other identifiable causes of liver dysfunction. Age, weight, TG, fasting serum insulin and HOMA-IR levels were higher in children with NAFLD. Twenty-eight percent children had MS. Children with NAFLD had an odds ratio of 2.65 for having MS (boys 4.6, girls 1.7). The prevalence of MS increased with age 5-9 years (21%), 10-16 years (30%), 17-20 years (35%). CONCLUSION: Given high prevalence of NAFLD and MS in obese children, childhood obesity should be seriously considered as a disease and not just a cosmetic issue.

A mixed-methods examination of the gap between intelligence and adaptive functioning in autistic young adults without intellectual disability.

LAY ABSTRACT: Adaptive functioning describes the age-appropriate skills necessary for independent living. Research suggests that autistic children, adolescents, and adults who do not have an intellectual disability demonstrate adaptive functioning challenges relative to their intellectual ability. Thus, even though many of these individuals have the intellectual capacity to excel in mainstream educational and vocational settings, their adaptive functioning challenges may serve as an obstacle to independence. The research on adaptive functioning in autistic adults is focused on statistical analysis of standardized assessments (e.g. parent-report on multiple choice questionnaires). Qualitative research that examines the narratives of young adults and their parents is needed to better understand adaptive functioning in young adults and their resulting service needs. This study combined statistical analysis of standardized assessments with qualitative analysis of interview responses from autistic young adults without intellectual disability and their parents. Findings replicated previous reports of adaptive functioning challenges and identified influences on adaptive functioning development, consequences of independence, and service needs. Taken together, findings indicate the need for interventions and services that facilitate adaptive functioning development in autistic adolescents and young adults and provide insight into potential intervention targets and strategies.

Feasibility and acceptability of a telehealth model for autism diagnostic evaluations in children, adolescents, and adults.

This study examined the feasibility and acceptability of a telehealth diagnostic model deployed at an autism center in the southwestern United States to safely provide autism spectrum disorder (ASD) diagnostic evaluations to children, adolescents, and adults during the COVID-19 pandemic. Participants included all clients for whom a telehealth diagnostic evaluation was scheduled at the diagnostic clinic (n = 121) over a 6-month period. Of 121 scheduled clients, 102 (84%) completed the telehealth evaluation. A diagnostic determination was made for 91% of clients (93 out of 102) using only telehealth procedures. Nine participants (two females; ages 3 to 11 years) required an in-person evaluation. Responses from psychologist and parent acceptability surveys indicated the model was acceptable for most clients. Psychologist ratings suggested that telehealth modalities used in the current study may be less acceptable for evaluating school-aged children with subtle presentations compared to children in the early developmental period, adolescents, and adults. Parents of females reported higher acceptability than parents of males. Findings contribute to the small but growing literature on feasibility and acceptability of telehealth evaluations for ASD and have implications for improving access to care during and after the COVID-19 pandemic. LAY SUMMARY: This study described telehealth methods for evaluating children, adolescents, and adults for autism spectrum disorder. Telehealth methods were generally acceptable to psychologists conducting the evaluations and parents of diagnostic clients. Psychologists reported the methods to be less acceptable for school-aged children and parents of males found the methods less acceptable than parents of females. The telehealth methods described may help to increase access to diagnostic professionals and reduce wait times for evaluations during and after the COVID-19 pandemic.

Effect of Newer Generation Anticonvulsant Prophylaxis on Seizure Incidence After Spontaneous Intracerebral Hemorrhage.

BACKGROUND: The role of prophylactic antiepileptic drugs (AEDs) in preventing seizures and/or improving the outcomes after intracerebral hemorrhage (ICH) has remained controversial. The current guidelines have recommended against AED prophylaxis. However, these recommendations were based on older studies that had primarily used phenytoin as the AED of choice. Newer medications, such as levetiracetam, have yet to be extensively studied. METHODS: We performed a retrospective review of patients with ICH from 2010 to 2015. The patient demographic data, seizure data, and outcomes were collected. The results were analyzed using descriptive statistics, binary logistic regression, and quantile regression. The primary outcome was seizure incidence. RESULTS: A total of 360 patients with a median age of 70 years had met the inclusion criteria. Of the 360 patients, 30 (8.3%) had had recorded seizure events, 54% were men, and 81% had a history of hypertension. The median admission National Institutes of Health stroke scale (NIHSS) score was 7 (interquartile range [IQR], 14), and the median discharge NIHSS score was 5.0 (IQR, 13). The median hematoma size was 7.1 mL (IQR, 13 mL), and 143 patients (40%) had had cortical involvement. Of the 360 patients, 273 (76%) had received prophylaxis and 87 (24%) had not. After adjustment for the admission NIHSS and the presence of cortical involvement, the rate of new seizure events after ICH remained significantly lower for the patients who had received AED prophylaxis (adjusted odds ratio, 0.28; 95% confidence interval, 0.11-0.71; P = 0.008). CONCLUSION: The administration of, predominantly, levetiracetam for AED prophylaxis after ICH reduced the odds of new seizure events, independently of the admission NIHSS score and the presence of cortical involvement.

Brief Report: Effectiveness of an Accelerated Version of the PEERS® Social Skills Intervention for Adolescents.

Evidence supporting the effectiveness of the PEERS® social skills intervention for adolescents with autism spectrum disorder is relatively strong. Less is known about whether the duration of the program impacts participant outcomes. The current study compared outcomes of participants randomly assigned to participate in an accelerated version of PEERS that met twice weekly for 7 weeks (n = 11) or the traditional PEERS program that met once weekly for 14 weeks (n = 10). The accelerated PEERS group demonstrated improvements consistent with previous research on the program, and treatment response did not differ significantly between the accelerated PEERS and traditional PEERS groups. Together, findings provide preliminary evidence that PEERS is effective when administered as a 7-week program.

A Qualitative Examination of User Perceptions of User-Driven and App-Controlled Hearing Technologies.

Purpose The aim of this study was to examine how hearing aid candidates perceive user-driven and app-controlled hearing aids and the effect these concepts have on traditional hearing health care delivery. Method Eleven adults (3 women, 8 men), recruited among 60 participants who had completed a research study evaluating an app-controlled, self-fitting hearing aid for 12 weeks, participated in a semistructured interview. Participants were over 55 years of age and had varied experience with hearing aids and smartphones. A template analysis was applied to data. Results Five themes emerged from the interviews: (a) prerequisites to the successful implementation of user-driven and app-controlled technologies, (b) benefits and advantages of user-driven and app-controlled technologies, (c) barriers to the acceptance and use of user-driven and app-controlled technologies, (d) beliefs that age is a significant factor in how well people will adopt new technology, and (e) consequences that flow from the adoption of user-driven and app-controlled technologies. Specifically, suggested benefits of the technology included fostering empowerment and providing cheaper and more discrete options, while challenges included lack of technological self-efficacy among older adults. Training and support were emphasized as necessary for successful adaptation and were suggested to be a focus of audiologic services in the future. Conclusion User perceptions of user-driven and app-controlled hearing technologies challenge the audiologic profession to provide adequate support and training for use of the technology and manufacturers to make the technology more accessible to older people.

Parent-reported early symptoms of autism spectrum disorder in children without intellectual disability who were diagnosed at school age.

Despite efforts to detect autism spectrum disorder during toddlerhood, many children with autism spectrum disorder remain undiagnosed until school age. To identify characteristics of children whose autism spectrum disorder might not be diagnosed during toddlerhood, this study used archived Autism Diagnostic Interview-Revised records to examine the historical presentation of autism spectrum disorder symptoms in 48 school-age children with autism spectrum disorder. Children diagnosed after starting school (Late-Diagnosed; n = 24) were compared to age-matched children diagnosed before school age (Early-Diagnosed; n = 24). Symptom presentation was similar between groups, with the Late-Diagnosed group exhibiting only marginally fewer symptoms historically. The most commonly reported historical symptoms were negative symptoms, namely, deficits in social behaviors. Positive symptoms, such as unusual preoccupations, rituals, and mannerisms, were less commonly reported. These findings may aid earlier identification of autism spectrum disorder in children who would likely be diagnosed at school age.

Theory of mind in children with and without autism spectrum disorder: Associations with the sibling constellation.

The two prior studies that have examined associations between the sibling constellation and theory of mind in autism spectrum disorder yielded discrepant findings. Thus, efforts to better understand the sibling-theory of mind link in autism spectrum disorder are necessary. This study examined a sample of prekindergarten- and kindergarten-aged (i.e. 4-6 years) typically developing children ( n = 39) and verbal children with autism spectrum disorder ( n = 61). Sibling presence, number of siblings, and having younger and older siblings were positively associated with theory of mind in typically developing children, but not in the full sample of children with autism spectrum disorder. However, in the subgroup of children with autism spectrum disorder without sibling recurrence, the presence of at least one older sibling was positively associated with theory of mind. Findings expand previous limited research on the sibling-theory of mind link in children with autism spectrum disorder by demonstrating a potential difference in the influence of the sibling constellation between children from simplex and multiplex families.