Ocular manifestations in a cohort of 43 patients with KBG syndrome.

Ophthalmological conditions are underreported in patients with KBG syndrome, which is classically described as presenting with dental, developmental, intellectual, skeletal, and craniofacial abnormalities. This study analyzed the prevalence of four ophthalmological conditions (strabismus, astigmatism, myopia, hyperopia) in 43 patients with KBG syndrome carrying variants in ANKRD11 or deletions in 16q24.3 and compared it to the literature. Forty-three patients were recruited via self-referral or a private Facebook group hosted by the KBG Foundation, with 40 of them having pathogenic or likely pathogenic variants. Virtual interviews were conducted to collect a comprehensive medical history verified by medical records. From these records, data analysis was performed to calculate the prevalence of ophthalmological conditions. Out of the 40 participants with pathogenic or likely pathogenic variants, strabismus was reported in 9 (22.5%) participants, while astigmatism, myopia, and hyperopia were reported in 11 (27.5%), 6 (15.0%), and 8 (20.0%) participants, respectively. Other reported conditions include anisometropia, amblyopia, and nystagmus. When compared to the literature, the prevalence of strabismus and refractive errors is higher than other studies. However, more research is needed to determine if variants in ANKRD11 play a role in abnormal development of the visual system. In patients with established KBG syndrome, screening for misalignment or refractive errors should be done, as interventions in patients with these conditions can improve functioning and quality of life.

Documentation and prevalence of prenatal and neonatal outcomes in a cohort of individuals with KBG syndrome.

Ankyrin Repeat Domain 11 (ANKRD11) gene mutations are associated with KBG syndrome, a developmental disability that affects multiple organ systems. The function of ANKRD11 in human growth and development is not clear, but gene knockout or mutation are lethal in mice embryos and/or pups. In addition, it plays a vital role in chromatin regulation and transcription. Individuals with KBG syndrome are often misdiagnosed or remain undiagnosed until later in life. This is largely due to KBG syndrome's varying and nonspecific phenotypes as well as a lack of accessible genetic testing and prenatal screening. This study documents perinatal outcomes for individuals with KBG syndrome. We obtained data from 42 individuals through videoconferences, medical records, and emails. 45.2% of our cohort was born by C-section, 33.3% had a congenital heart defect, 23.8% were born prematurely, 23.8% were admitted to the NICU, 14.3% were small for gestational age, and 14.3% of the families had a history of miscarriage. These rates were higher in our cohort compared to the overall population, including non-Hispanic and Hispanic populations. Other reports included feeding difficulties (21.4%), neonatal jaundice (14.3%), decreased fetal movement (7.1%), and pleural effusions in utero (4.7%). Comprehensive perinatal studies about KBG syndrome and updated documentation of its phenotypes are important in ensuring prompt diagnosis and can facilitate correct management.

Evaluation of a Motivation-Based Intervention to Reduce Health Risk Behaviors among Black Primary Care Patients with Adverse Childhood Experiences.

BACKGROUND: Considerable evidence suggests that greater attention should be paid to the impact of trauma among low-income, racial/ethnic minority patients living in urban communities. The goal of this article is to evaluate a 2-session, motivational intervention designed to motivate a change in health risk behaviors among low-income, self-identified Black/African American patients with adverse childhood experiences (ACEs). METHODS: Qualitative self-reported data described helpful aspects of the intervention and those that could be improved. Eligible participants with 1 or more ACEs being seen in a community-based clinic were interviewed by a mental health clinician researcher for 2 in-person sessions scheduled 1 month apart. Content analysis was performed using a general inductive approach to identify core themes. RESULTS: In total, 36 of 40 participants completed both sessions, with the majority reporting a high rate of satisfaction. Participants emphasized the importance of talking with a trained professional who could listen without judgment, understand patient challenges, clarify patient goals, and facilitate behavior change plans. Suggestions for improvement included modifying structure and content, enhancing clinic environment, improving linkages to behavioral health, and increasing communication and collaboration with clinicians. CONCLUSION: Participant evaluation data gathered for this study suggest that through the practice of asking, listening, and accepting, clinicians can help patients who have been exposed to childhood adversity better understand themselves and promote healthy coping behaviors. This study provides preliminary data on the needs of underserved patients that can be utilized to develop and deliver health promotion interventions using a trauma-informed approach in community-based clinics.