Behavioral inflexibility in fragile X syndrome: Accounts from caregivers and self-advocates.

Introduction: Behavioral difficulties in individuals with fragile X Syndrome (FXS) are one of the primary reasons families seek medical and psychological support. Among these, behavioral inflexibility is very common, and when left untreated, can negatively impact quality of life for the individuals with FXS and their families. Behavioral inflexibility refers to the difficulty in changing one's behaviors based on environmental demands or social contexts, thus impeding daily functioning, opportunities for learning, and social interactions. In addition to the individual and family impact, behavioral inflexibility is often recognized as a defining phenotype of FXS and appears to be specific to FXS when compared to other genetic forms of intellectual disability. Despite the pervasiveness and severity of behavioral inflexibility in FXS, there are limited measures that adequately assess behavioral inflexibility in FXS. Methods: We conducted semi-structured virtual focus groups with 22 caregivers, 3 self-advocates, and 1 professional to gather key stakeholders' perspectives on and experiences of inflexible behavior observed in FXS. Audio-recordings from focus groups were transcribed using NVivo, then verified and coded. Two trained professionals reviewed codes to extract primary themes. Results: Six themes were extracted: (1) Intolerance of change, (2) Intolerance to uncertainty, (3) Repetitive interests and behaviors, (4) Family impact, (5) Change in behavior across the lifespan, and (6) Impact of the COVID pandemic. Our findings show common examples of these themes included intolerance to disruption to routine, perseverative questioning, watching the same things over and over, and caregivers having to extensively pre-plan for events. Discussion: The purpose of the current study was to gain key stakeholders' perspectives via focus groups to elicit information and understand patterns of inflexible behaviors in FXS, with the goal of developing a disorder-specific measure to accurately assess behavioral inflexibility across the lifespan and in response to treatment. We were able to capture several phenotypic examples of behavioral inflexibility in FXS as well as their impact on individuals with FXS and their families. The wealth of information gained through our study will aid in our next steps of item generation for measure development of Ratings of Inflexibility in Genetic Disorders associated with Intellectual Disability - Fragile X Syndrome (RIGID-FX).

The Impact of the COVID-19 Pandemic on School-Aged Children with Fragile X Syndrome.

The pandemic caused by the spread of the coronavirus disease (COVID-19), beginning in early 2020, had an impact beyond anything experienced in recent history. People with Fragile X Syndrome (FXS), the leading known heritable cause of ASD and intellectual disability, were uniquely vulnerable to pandemic-related changes. This study surveyed parent perspectives of the impact on 33 school-aged children with FXS across daily living skills, education, therapies, behaviors, health visits, and mask wearing. Academic performance was perceived to have decreased in most of the children (58%). Students in online school had the most reports of decline and those in person had the most reported improvement. Parents were significantly more satisfied with services that remained in person compared to those delivered online or in hybrid settings. Additionally, depression (75%), sleep problems (80%), attention problems (73%), and social skills (61%) were reported to have worsened the most. Parents reported that in addition to continuing with a structured schedule, the most helpful strategies were increasing face-to-face social interactions and outdoor activities. Future research should explore strategies to help online interventions and education to be more successful with individuals with FXS, given this may become a resource for families not geographically able to access in-person resources.

Brief Report: Telehealth Satisfaction Among Caregivers of Pediatric and Adult Psychology and Psychiatry Patients with Intellectual and Developmental Disability in the Wake of Covid-19.

Telehealth has been shown to be both acceptable and effective in many areas of healthcare, yet it was not widely adopted prior to the SARS-CoV-2 (COVID-19) pandemic. Additionally, previous evaluations of telehealth for autism spectrum condition (ASC) and intellectual and developmental disability (IDD) populations are limited in both number and scope. Here, we investigated satisfaction amongst Psychology and Psychiatry patient caregivers at Cincinnati Children's Hospital Medical Center (CCHMC) after the onset of the COVID-19 pandemic. Results (640 responses) showed high rates of satisfaction across departments, appointment types, and diagnoses, with 92% indicating overall satisfaction with their appointment. There were, however, notable decreases in satisfaction among Group Therapy respondents, and those whose diagnosis was classified as Other.

Incorporation of Telepsychiatry for Patients with Developmental Disorders into Routine Clinical Practice-A Survey of Specialty Clinics Adapting to Telepsychiatry During the COVID-19 Pandemic.

In 2020, a nationwide shift to telepsychiatry occurred in the wake of the Coronavirus Disease 2019 (COVID-19) pandemic and lockdowns. To assess the rates of telepsychiatry appointment attendance pre- and post-lockdown, we conducted a national, multi-site survey of appointments in 2020 compared to a similar time period in 2019, at outpatient child psychiatry clinics that specialize in the treatment of patients with Autism Spectrum Disorder (ASD) and/or Developmental Disabilities (DD). ASD/DD clinics rapidly shifted to telepsychiatry, returning to pre-pandemic appointment numbers and completion rates within months. We advocate for the continued funding of this care model, discuss the substantial benefits physicians, patients and families have found in using telepsychiatry, and suggest ways to improve future access for ASD/DD telepsychiatry.

Use of Telehealth in Fellowship-Affiliated Developmental Behavioral Pediatric Practices During the COVID-19 Pandemic.

OBJECTIVE: This study aims to describe the use of telehealth in developmental behavioral pediatric (DBP) fellowship-affiliated practices during the coronavirus disease 2019 (COVID-19) global pandemic. METHODS: An electronic survey was disseminated to all DBP fellowship-associated practice locations to determine the use of telehealth in DBP care provision, before and since the beginning of the COVID-19 pandemic. We analyzed responses using descriptive statistics. RESULTS: A total of 35 of 42 eligible practice sites responded (83% response rate). Most sites (51.4%) reported using telehealth less than once per month before the COVID-19 pandemic. Since the onset of COVID-19, 100% of programs reported conducting video-based telehealth visits multiple days per week. Most sites reported conducting evaluations and follow-up visits for attention-deficit/hyperactivity disorder, autism spectrum disorder, behavioral concerns, developmental delay, genetic disorders, and learning disability. Most sites were able to continue medication management by telehealth (>88%), offer interpreter services for families with limited English proficiency participating in telehealth visits (>90%), and incorporate trainees and interdisciplinary team members in telehealth visits (>90%). Greater variability was observed in sites' ability to collect telehealth practice evaluation measures. CONCLUSION: Most sites are providing evaluations and ongoing care for DBP conditions through telehealth. The rapid adoption of telehealth can have ramifications for the way that DBP care is delivered in the future; therefore, it is imperative to understand current practice patterns and variations to determine the best use of telehealth.