Ellen Giarelli

Frequency and pattern of documented diagnostic features and the age of autism identification.

OBJECTIVEnThe DSM-IV-TR specifies 12 behavioral features that can occur in hundreds of possible combinations to meet diagnostic criteria for autism spectrum disorder (ASD). This paper describes the frequency and variability with which the 12 behavioral features are documented in a population-based cohort of 8-year-old children under surveillance for ASD, and examines whether documentation of certain features, alone or in combination with other features, is associated with earlier age of community identification of ASD.nnnMETHODnStatistical analysis of behavioral features documented for a population-based sample of 2,757 children, 8 years old, with ASD in 11 geographically-defined areas in the US participating in the Autism and Developmental Disabilities Monitoring Network in 2006.nnnRESULTSnThe median age at ASD identification was inversely associated with the number of documented behavioral features, decreasing from 8.2 years for children with only seven behavioral features to 3.8 years for children with all 12. Documented impairments in nonverbal communication, pretend play, inflexible routines, and repetitive motor behaviors were associated with earlier identification, whereas impairments in peer relations, conversational ability, and idiosyncratic speech were associated with later identification.nnnCONCLUSIONSnThe age dependence of some of the behavioral features leading to an autism diagnosis, as well as the inverse association between age at identification and number of behavioral features documented, have implications for efforts to improve early identification. Progress in achieving early identification and provision of services for children with autism may be limited for those with fewer ASD behavioral features, as well as features likely to be detected at later ages.

Genomics and Autism Spectrum Disorder

PURPOSEnTo present the current state of the evidence regarding translation of genetics (the study of single genes) and genomics (the study of all genes and gene-gene or gene-environment interactions) into health care of children with autism spectrum disorder (ASD).nnnMETHODSnThis article presents an overview of ASD as an international health challenge, the emerging science related to broad diagnostic criteria, and the role of the nurse in research, education, and practice.nnnFINDINGSnMuch progress is being made in the understanding of genetics and genomics of ASD. Environmental factors are thought to contribute to the risk of developing ASD by interacting with a number of genes in different ways, thus suggesting causal heterogeneity. The rising identified prevalence of ASD, the changing diagnostic criteria for ASD, and the complexity of the core and associated features have made it difficult to define the ASD phenotype (observable behaviors that result from gene-environment interaction). Because early identification improves opportunities for intervention, researchers are looking for a useful biomarker to detect ASD. This search is complicated by the likelihood that there are multiple causes for multiple expressions that are defined as the autism spectrum.nnnCONCLUSIONSnTo date, genetic and genomic research on ASD have underscored the complexity of the causes of ASD indicating that there are very complex genetic processes involved that are still not well understood.nnnCLINICAL RELEVANCEnNurses will benefit from new knowledge related to early identification, diagnosis, and implications for the family to promote early intervention. Families who have a child with ASD will require nursing support for advocacy for optimal health outcomes.

Parents’ Perceptions of the Usefulness of Chromosomal Microarray Analysis for Children with Autism Spectrum Disorders

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.

A comparison of Autism Spectrum Disorder DSM-IV criteria and associated features among African American and white children in Philadelphia County

BACKGROUNDnRacial differences are documented in the timing and type of autism spectrum disorder (ASD) diagnosis among white and African American children. Differences in clinical presentation by race may contribute to these disparities. This study explores documented differences in core ASD symptoms and associated behavioral features among African American and white children.nnnMETHODSnThis project is a secondary data analysis from the Pennsylvania Autism and Developmental Disabilities Surveillance Program and utilized methodology that evaluates existing records, reviews, and codes for DSM-IV criteria for ASD and 12 associated behavioral features. The sample comprised 343 children meeting surveillance case definition for ASD, from 3 population-based cohorts of children in Philadelphia County.nnnRESULTSnA higher frequency of white children compared to African American children with ASD have documented DSM-IV criteria of inflexible adherence to nonfunctional routines/rituals (92% vs 81%; p = .005) and persistent preoccupation with parts of objects (67% vs 50%; p = .002). A higher frequency of white children with ASD compared to African American children with ASD have documented abnormal motor development (74% vs 60%; p = .008) and odd responses to sensory stimuli (76% vs 51%; p < .001). There were no significant differences in externalizing behaviors or reciprocal social interaction.nnnCONCLUSIONSnThis study suggests differences in the types of ASD symptoms and associated behavioral features exhibited by African American as compared to white children with ASD. Further research is needed to determine if these differences contribute to disparities in the timing or type of ASD diagnosis.

Genomic Literacy and Competent Practice: Call for Research on Genetics in Nursing Education

This article presents an argument for research on the practical outcomes of genetics education in professional nursing programs. Nurse educators should aggressively conduct educational outcomes research on the translation of genetics core competencies at all levels of clinical practice. There should be a systematic examination of the factors, that influence graduate nurses applications of concepts to patient care including type of educational preparation in genetics. The best way to improve health is to understand normal genome biology and its relationship to disease biology. Assuring genetics and genomic literacy among all nurses is a crucial task for contemporary nursing education programs.

Autism spectrum disorder symptoms among children enrolled in the Study to Explore Early Development (SEED).

This study examined the phenotypic profiles of children aged 30–68xa0months in the Study to Explore Early Development (SEED). Children classified as autism spectrum disorder (ASD), developmental delay (DD) with ASD symptoms, DD without ASD symptoms, and population comparison (POP) differed significantly from each other on cognitive, adaptive, behavioral, and social functioning and the presence of parent-reported conditions. Children with ASD and DD with ASD symptoms had mild to severe ASD risk on several measures compared to children with other DD and POP who had little ASD risk across measures. We conclude that children in SEED have varying degrees of ASD impairment and associated deficits. SEED thus provides a valuable sample to explore ASD phenotypes and inform risk factor analyses.

Bridges and Barriers to Successful Transitioning as Perceived by Adolescents and Young Adults With Asperger Syndrome

In this thematic content analysis we examined the expectations, and perceived facilitators of (referred to as bridges) and barriers to transition to community as reported by adolescents and young adults with Asperger syndrome. Participants were adolescents/young adults, ages 18-23 years were from the East Coast of the United States. Seventy percent of adolescents hoped for employment (n = 10). Thirty percent desired to find a partner and raise a family. Perceived barriers were: self-assessed behavioral problems, self-assessed associated features, other personal factors, and institutional factors. Bridges to facilitate transition were: accommodations in the community, cognitive abilities, personal qualities/strengths, and mentors qualities.

Research Participation Among Asian American Women at Risk for Cervical Cancer: Exploratory Pilot of Barriers and Enhancers

The purposes of this exploratory pilot were to describe perceived barriers to participation in cervical cancer prevention research, and identify culturally-appropriate communication strategies to recruit Asian women into cancer prevention research. This thematic analysis of transcripts, from focus groups and in-depth interviews, was conducted in English, Vietnamese, and Mandarin Chinese, at a community clinic in Philadelphia, Pennsylvania. Thirty participants were either Vietnamese (35%) or Chinese (65%). Mean age was 36.8 (SD 9.9xa0years). Reasons for non-participation were: lack of time, inconvenience, mistrust of institutions and negative experiences, lack of translated materials, feeling intimidated by English, and the lack of translation of key words or terms. Enhancers of participation were: endorsement by a spouse, monetary compensation, and a personalized approach that offers a benefit for Asian women. To increase participation, first one must remove language barriers and, preferably, use specific dialects. Second, one must specify if benefits are indirectly or directly related to the family or cultural group. Asian research participants in our study consistently expressed that a significant motivator was their desire to be of help, in some way, to a family member or to the Asian community in general.

Self-surveillance for genetic predisposition to cancer: behaviors and emotions.

PURPOSE/OBJECTIVESnTo describe the kinds of self-monitoring activities and the emotional responses associated with those activities in patients with a genetic predisposition to multiple endocrine neoplasia type 2a (MEN2a) or familial adenomatous polyposis (FAP).nnnRESEARCH APPROACHnThematic analysis of the transcripts of patient interviews conducted for two previous grounded theory investigations of participation in lifelong surveillance for patients with cancer predisposition syndromes and their family members.nnnSETTINGnIn the original studies, participants were recruited through a high-risk gastrointestinal cancer clinic (for FAP) and pediatric and adult endocrinology clinics (for MEN2a) at two eastern U.S. medical centers and by patient referral.nnnPARTICIPANTSn58 transcripts of interviews with 29 patients; 17 diagnosed with FAP or the variants of Gardner syndrome and attenuated FAP and 12 patients diagnosed with MEN2a.nnnMETHODOLOGIC APPROACHnInformants participated in two hour-long, in-depth interviews and completed a self-administered sociodemographic questionnaire.nnnMAIN RESEARCH VARIABLESnTypes of self-surveillance activities.nnnFINDINGSnPatients engage in an elaborate set of self-surveillance activities that are grouped into five categories of behavior: Medication Appraisal, Phenotype Tracking, Intake and Output Monitoring, Laboratory and Treatment Recording, and Tracking of Visits. Self-surveillance behaviors are grouped independent of type of syndrome, penetrance, age, or gender of the patient. Each category comprises a variety of behaviors that correspond with treatment recommendations and understanding of the disorder.nnnCONCLUSIONSnSelf-surveillance may be driven by a combination of anticipation and the need for control and understanding.nnnINTERPRETATIONnFindings from the study could be used to create an assessment tool to evaluate the extent to which patients are involved in day-to-day self-monitoring. Clinicians may use the categories to better understand patients knowledge deficits and the emotional impact of enhanced vigilance. Self-surveillance activities performed by patients with MEN2a and FAP also may be performed by patients with other cancer predisposition syndromes.

Sensory stimuli as obstacles to emergency care for children with autism spectrum disorder.

Visits to the emergency department (ED) are stressful for any patient and pose special challenges and potential barriers to care for those with autism spectrum disorder (ASD). In addition, people (both children and adults) with ASD differ in their perception of, or responses to, environmental stimuli. Some people with ASD present with sensory defensiveness that is environmentally moderated, but there is a gap in our knowledge about patterns or thresholds of stimulation that kindle behavioral responses. We systematically recorded visual and auditory stimuli in an ED. Data were collected in four areas, hallway, doorway of waiting room, chair in waiting room, and treatment room, over several weeks and times of day. The mean light intensity ranged from 127 to 184 lux. There were significant differences (F = 16.77, df = 3, p > 0.001) between the five ED locations. Mean sound levels ranged from a high of 63.291 dB in the waiting room chair to a low of 51.289 dB in the treatment room. The highest consistent level of noise was recorded while sitting in the waiting room chair (60.657–63.291 dB). The findings suggest significant differences in light and sound intensity in common ED locations, with the highest mean readings of light and noise in the waiting areas. The differences and descriptions of light and sound patterns support the need for additional studies in both the measurement of the ED environment and its role in stimulating sensory defensiveness in people with ASD.