Engagement and Satisfaction With Care Navigation Support Following Telehealth Autism Evaluation.

OBJECTIVE: Care navigation support is designed to help connect families with health care resources. Given that children with autism have more unmet needs than their peers, such a service may be especially valuable to families who have recently received a diagnosis. This study sought to examine engagement in care navigation support after an autism telehealth evaluation. Specifically, we report on what demographic and diagnostic factors predicted engagement in care navigation support and satisfaction with this service. METHODS: Care navigation was offered to 220 families receiving autism telehealth evaluations between April 2020 and April 2022. Survey data from initial evaluation appointments and 2 follow-up care navigation meetings (approximately 1-3 months and approximately 9-12 months after evaluation), along with data from medical records, were collected and analyzed to determine whether any traits predicted engagement in care navigation. Satisfaction with care navigation was also analyzed. RESULTS: Of 220 families, 48.2% (n = 106) participated in a care navigation meeting within 1 to 3 months after an evaluation and 59.5% (n = 131) participated in at least 1 meeting across 2 time periods. The findings did not support the hypothesis that a diagnosis of autism would predict engagement. Analyses found that child sex (female compared with male) and child race and ethnicity (children of color compared with White children) predicted engagement. For those who engaged in care navigation, high satisfaction was reported. CONCLUSION: Participants' engagement rates and satisfaction levels suggest care navigation is a valuable service for families after a telehealth autism evaluation.

A 2-Year-Old Child with Alazami Syndrome with Newly Reported Findings of Immune Deficiency, Periventricular Nodular Heterotopia, and Stroke; Broadening the Phenotype of Alazami.

Alazami syndrome is a rare autosomal recessive neurodevelopmental disorder due to loss-of-function variants in the La ribonucleoprotein 7 (LARP7) gene. Children with Alazami syndrome are most often affected by a combination of primordial dwarfism, intellectual disability, and distinctive facial features. Previous cases have been primarily found in consanguineous families from the Middle East, Asia, and North Africa. We present a 21-month-old Caucasian male from the Midwest United States with nonconsanguineous parents who presented with frequently reported findings of unusual facial features, poor growth, cardiac and genitourinary findings, and developmental delay; less-frequently reported findings, including transient erythroblastopenia of childhood (TEC) and immune deficiency; and never-before reported findings of periventricular nodular heterotopia and stroke. He developed stroke during a hospitalization for Hemophilus influenzae meningitis. The possible contributions of LARP7 to TEC, immune deficiency, brain malformation, and stroke are discussed. Guidelines for the care of Alazami patients are proposed.