Search

Despite increasing utilization of chromosomal microarray analysis (CMA) for autism spectrum disorders (ASD), limited information exists about how results influence parents' beliefs about etiology and prognosis. We conducted in-depth interviews and surveys with 57 parents of children with ASD who received CMA results categorized as pathogenic, negative or variant of uncertain significance. Parents tended to incorporate their child's CMA results within their existing beliefs about the etiology of ASD, regardless of CMA result. However, parents' expectations for the future tended to differ depending on results; those who received genetic confirmation for their children's ASD expressed a sense of concreteness, acceptance and permanence of the condition. Some parents expressed hope for future biomedical treatments as a result of genetic research.

Self-injurious behaviors (SIB) have been reported in more than 30% of children with an autism spectrum disorder (ASD) in clinic-based studies. This study estimated the prevalence of SIB in a large population-based sample of children with ASD in the United States. A total of 8,065 children who met the surveillance case definition for ASD in the Autism and Developmental Disabilities Monitoring (ADDM) Network during the 2000, 2006, and 2008 surveillance years were included. The presence of SIB was reported from available health and/or educational records by an expert clinician in ADDM Network. SIB prevalence averaged 27.7% across all sites and surveillance years, with some variation between sites. Clinicians should inquire about SIB during assessments of children with ASD.

Clinical guidelines recommend chromosomal microarray analysis (CMA) for all children with autism spectrum disorders (ASDs). We explored the test's perceived usefulness among parents of children with ASD who had undergone CMA, and received a result categorized as pathogenic, variant of uncertain significance, or negative. Fifty-seven parents participated in a semi-structured telephone interview, and 50 also completed a survey. Most parents reported that CMA was helpful for their child and family. Major themes regarding perceived usefulness were: medical care, educational and behavioral interventions, causal explanation, information for family members, and advancing knowledge. Limits to utility, uncertainties and negative outcomes were also identified. Our findings highlight the importance of considering both health and non-health related utility in genomic testing.

Adolescents and young adults with Marfan syndrome (MFS) use information from self-surveillance to manage their disorder. Thirty-seven male and female adolescents with MFS aged 14 to 21 years were interviewed. They identified 58 distinct self-surveillance behaviors that fell into four categories and multiple subcategories (SCs): tracking phenotype (SCs: physical appearance, physical fitness, medical problems, and other observations); tracking medical care (SCs: medical evaluations and treatments, and pharmacotherapy); tracking behavior (SCs: personal choices and social relations); and tracking emotions (SCs: positive emotional impact and negative emotional impact). The frequency and range of self-monitoring increased with the age of the child. On average, a child of 14 self-monitored from 1 to 3 times per day, whereas a person aged 21 might self-monitor many more times per day. The patient-parent-physician relationship is the context for teaching adolescents and young adults self-surveillance skills. Self-surveillance by patients is first-line symptom assessment and an adjunct to medical monitoring. (Contains 2 tables and 1 figure.)

Aim: This descriptive cross-sectional study estimates the frequencies and kinds of potential developmental disabilities (DD) and behavior problems (BP) among children in grades R and 1 who attend a primary public school in rural Western Cape Province, South Africa. Methods: Data were collected on 174 children aged 5.1-8.8 years using the "Ten Question Screener" (10QS) and the "Developmental Behaviors Checklist-Short form." Results: For the entire sample, 42% (n = 73) screened positive for 1 or more possible DD on the 10SQ. Twenty-one percent (n = 36) screened positive for one or more possible DDs. Thirty-six percent (n = 63) of the sample scored above the cutoff for a behavioral problem that may be clinically significant. For this group the proportion of females (n = 36, 39%) was slightly higher than males (n = 28, 35%). Conclusion: The percent of possible DDs and BP among children in grades R and 1 is higher than the number of learners with special needs reported by the Principal for the entire school (18.7%). The findings from this study suggest that there may be more learners than formally designated who have special educational needs that may benefit from special educational programs (e.g. speech, occupational, language, etc.). There may be a need for expanded remedial educational and behavioral services in this school and elsewhere in the district. (Contains 3 tables.)

Objectives. We sought to examine racial and ethnic disparities in the recognition of autism spectrum disorders (ASDs). Methods. Within a multisite network, 2568 children aged 8 years were identified as meeting surveillance criteria for ASD through abstraction of evaluation records from multiple sources. Through logistic regression with random effects for site, we estimated the association between race/ethnicity and documented ASD, adjusting for gender, IQ, birthweight, and maternal education. Results. Fifty-eight percent of children had a documented autism spectrum disorder. In adjusted analyses, children who were Black (odds ratio [OR]=0.79; 95% confidence interval [CI]=0.64, 0.96), Hispanic (OR=0.76; CI=0.56, 0.99), or of other race/ethnicity (OR=0.65; CI=0.43, 0.97) were less likely than were White children to have a documented ASD. This disparity persisted for Black children, regardless of IQ, and was concentrated for children of other ethnicities when IQ was lower than 70. Conclusions. Significant racial/ethnic dispatrities exist in the recognition of ASD. For some children in some racial/ethnic groups, the presence of intellectual disability may affect professionals' further assessment of developmental delay. Our findings suggest the need for continued professional education related to the heterogeneity of the presentation of ASD. (doi: 10.2105/AJPH.2007.131243)