The New Frontier of Adult Neurodevelopmental Care: Individual and Caregiver Values.

Background and Objectives: There are few specialists that serve adults with neurodevelopmental disabilities (NDD), and most adults with NDD receive care from providers without specialty training in NDD. Care for this population is highly variable, and patient and caregiver priorities in this age group are not well known. We aimed to explore individual and caregiver values around adult neurodevelopmental care. Methods: In this qualitative study, a qualitative analyst conducted 22 semistructured virtual interviews from September 2021 to February 2022 with randomly selected adults with NDD and/or their caregivers. Each individual with NDD had at least one appointment in the adult NDD clinic, which started in October 2020. Interviews were recorded and professionally transcribed. An inductive codebook was developed and reconciled through an iterative process; transcripts were coded in Atlas.ti with 20% double-coding. Major themes were developed through team discussion. Results: Most interviewees were caregivers of patients with NDD (12); 9 interviews were with patient/caregiver dyads; 1 interview was with a patient alone. Three main themes emerged from the interviews. (1) Value in providers who are curious, engaged, and knowledgeable about NDD-related conditions, which individuals and caregivers referred to as "Unicorn Providers." (2) Value in a connected and coordinated web of care. (3) Value in comfortable and adaptable clinic spaces. They value clinical environments that foster patient success during visits. Discussion: The need for adult neurodevelopmental care is growing as more individuals with NDD are living into adulthood. Better understanding of patient and caregiver values can help shape this emerging field to meet the needs of this unique, often overlooked and underserved, population.

New Frontier: The First Year of an Adult Neurodevelopmental Disabilities Clinic.

BACKGROUND: As patients with neurodevelopmental disorders (NDDs) transition from pediatric to adult health care systems, they often have difficulty finding physicians to address their NDD-related needs. In response to this care gap, we established a new consultation clinic within a behavioral neurology clinic in an adult neurology department to address the neurodevelopmental concerns of these adult patients. OBJECTIVE: To characterize the population of adult patients with NDDs seen in the adult NDD clinic in its first year. METHOD: Data were obtained by a retrospective chart review of all patients with NDDs seen in the adult NDD clinic from September 2020 through December 2021. RESULTS: Of the 86 patients who were seen in the adult NDD clinic, the average age was 34 years (SD = 15, range = 18-74 years). Developmental diagnoses included intellectual disability (63%), autism spectrum disorder (47%), Down syndrome (15%), cerebral palsy (9%), and other genetic disorders (26%). Comorbidities addressed included behavioral concerns (34%), anxiety (29%), seizure disorders (22%), and depression (15%). Behavioral and/or mental health concerns prompted 65% of the initial clinic visits. The most common recommendation made was to begin or increase exercise (59%), followed by facilitating connection to community, social, and employment resources. CONCLUSION: Adults with NDDs have diagnoses, comorbidities, and concerns that are similar to, but also distinct from, those addressed in other adult neurology clinics. This study addresses the need for, and feasibility of, caring for the diverse population of adults with NDDs in an adult neurology setting.

Assessment and Diagnosis of Down Syndrome Regression Disorder: International Expert Consensus.

Objective: To develop standardization for nomenclature, diagnostic work up and diagnostic criteria for cases of neurocognitive regression in Down syndrome. Background: There are no consensus criteria for the evaluation or diagnosis of neurocognitive regression in persons with Down syndrome. As such, previously published data on this condition is relegated to smaller case series with heterogenous data sets. Lack of standardized assessment tools has slowed research in this clinical area. Methods: The authors performed a two-round traditional Delphi method survey of an international group of clinicians with experience in treating Down syndrome to develop a standardized approach to clinical care and research in this area. Thirty-eight potential panelists who had either previously published on neurocognitive regression in Down syndrome or were involved in national or international working groups on this condition were invited to participate. In total, 27 panelists (71%) represented nine medical specialties and six different countries reached agreement on preliminary standards in this disease area. Moderators developed a proposed nomenclature, diagnostic work up and diagnostic criteria based on previously published reports of regression in persons with Down syndrome. Results: During the first round of survey, agreement on nomenclature for the condition was reached with 78% of panelists agreeing to use the term Down Syndrome Regression Disorder (DSRD). Agreement on diagnostic work up and diagnostic criteria was not reach on the first round due to low agreement amongst panelists with regards to the need for neurodiagnostic testing. Following incorporation of panelist feedback, diagnostic criteria were agreed upon (96% agreement on neuroimaging, 100% agreement on bloodwork, 88% agreement on lumbar puncture, 100% agreement on urine studies, and 96% agreement on "other" studies) as were diagnostic criteria (96% agreement). Conclusions: The authors present international consensus agreement on the nomenclature, diagnostic work up, and diagnostic criteria for DSRD, providing an initial practical framework that can advance both research and clinical practices for this condition.