Autism is a behavior disorder with genetic influences indicated from twin and family studies and from the co-occurrence of autism with known genetic disorders. Tuberous sclerosis complex (TSC) is a known genetic disorder with behavioral manifestations including autism. A literature review of these two disorders substantiates a significant association of autism and TSC with 17-58% of TSC subjects manifesting autism and 0.4-3% of autistic subjects having TSC. In initial data collected on 13 TSC probands and 14 autistic probands in our family study of autism and TSC, we identified 7 TSC subjects with autism. The seven TSC autistic probands are similar to non-TSC autistic probands on the Social and Communication domains of the Autism Diagnostic Inventory (ADI) (Le Couteur et al., 1989), but show fewer Repetitive Rituals. There are more male TSC probands with autism than female, despite an equal sex ratio among TSC probands. The TSC probands with autism have significantly more seizures and mental retardation than those without autism; however, the extent and etiology of associations require further study. Our preliminary findings suggest that a fruitful approach for delineating genetic influences in autism may come from further investigation of possible mechanisms underlying the association of autism and TSC.
Work organizational factors (eg, frequent part-time work, inadequate breaks, perception as a "second team" distinct from the dentist and dental-assistant team) impede the remediation of ergonomics and other problems. Job flexibility encourages hygienists to change work hours or location rather than deal with work conditions. Occupational health interventions should address social environment and work organization.
Objectives Driven by beneficial patient-centered outcomes associated with patient portal use and the Affordable Care Act, portal implementation has expanded into safety nets—health systems that offer access to care to a large share of uninsured, Medicaid, and other vulnerable populations. However, little attention has been paid to the factors that affect portal accessibility by the vulnerable patients served by these health systems—including those who are limited English proficient (LEP). Materials and Methods The Los Angeles County Department of Health Services (LAC DHS), the second-largest safety net system in the nation, launched its first patient portal, and one of the few bilingual English-Spanish interfaces in existence, in March of 2015. To explore portal awareness and perceptions, we conducted focus groups with LAC DHS patients, in English and Spanish (LEP). The Technology Acceptance Model was used to guide thematic analysis of focus group data. Results Of the 46 participants, 37 were patients and 9 were caretakers; 23 were English-speaking and 23 Spanish-speaking LEP. All patients had diabetes or hypertension. Over half had an annual household income <$10 000, yet 78% of English-speaking and 65% of Spanish-speaking LEP participants reported at-home Internet access. Participants’ discussion centered around 3 major thematic narratives: (1) participants’ awareness or attitudes about the LAC DHS portal; (2) role of culture, language, or community with regard to portal accessibility and utility; and (3) perceived needs for successful portal implementation. Conclusions Safety net participants identified concrete benefits to the portal and emphasized the need for portal engagement that offered accessible education, support, and resources in clinical and community settings. The portal offers an additional opportunity to engage the patient and family with trusted and validated health information, and should be further developed in this capacity. This study provides a better understanding of preferred improvements of patient portal engagement that guide broader health technology efforts to address electronic health disparities.
The frequency and clinical presentation of autism in 28 probands with tuberous sclerosis complex (TSC) are reported and risk factors that may influence the development of autism in TSC are examined. Eight probands meet ICD-10 and DSM-IV criteria for autism, an additional 4 meet criteria for pervasive developmental disorder (PDD). Twelve TSC probands with autism/PDD are compared to 16 TSC probands without these conditions for factors which may underlie the association of autism and TSC. A specific seizure type, infantile spasms, as well as mental retardation, are increased in the TSC, autistic/PDD group. Furthermore, rates of social phobia and substance abuse are elevated among first-degree relatives of TSC probands with autism compared to first-degree relatives of TSC probands without autism. Implications of these findings in understanding the association of autism and TSC are discussed.
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