Alison Vehorn

Relationship Satisfaction, Parenting Stress, and Depression in Mothers of Children with Autism.

Mothers of children with autism report higher levels of depression than mothers of children with other developmental disabilities. We explored the relations between child characteristics of diagnostic severity and problem behaviors, parenting stress, relationship quality, and depressive symptoms in 70 mothers of young children with autism. We hypothesized that relationship quality and parenting stress would relate to maternal depression beyond contributions of child characteristics. Multiple regression analysis revealed a main effect of parenting stress above and beyond child problem behaviors and autism severity. A significant interaction emerged, with relationship quality buffering the effect of parenting stress on depression. Results suggest that the relation between child problem behaviors and maternal depression should be considered in conjunction with other measures of marriage and family stress. Relationship quality and parenting stress may also represent important factors to be explicitly considered within intervention paradigms for young children with autism spectrum disorders.

The diagnosis of autism in community pediatric settings: Does advanced training facilitate practice change?:

The increased prevalence of autism spectrum disorder and documented benefits of early intensive intervention have created a need for flexible systems for determining eligibility for autism-specific services. This study evaluated the effectiveness of a training program designed to enhance autism spectrum disorder identification and assessment within community pediatric settings across the state. Twenty-seven pediatric providers participated in regional trainings across a 3.5-year period. Trainings provided clinicians with strategies for conducting relatively brief within-practice interactive assessments following positive autism spectrum disorder screenings. Program evaluation was measured approximately 1.5 years following training through (a) clinician self-reports of practice change and (b) blind diagnostic verification of a subset of children assessed. Pediatric providers participating in the training reported significant changes in screening and consultation practices following training, with a reported 85% increase in diagnostic identification of children with autism spectrum disorder within their own practice setting. In addition, substantial agreement (86%–93%) was found between pediatrician diagnostic judgments and independent, comprehensive blinded diagnostic evaluations. Collaborative training methods that allow autism spectrum disorder identification within broader community pediatric settings may help translate enhanced screening initiatives into more effective and efficient diagnosis and treatment.

The behavioral phenotype in MECP2 duplication syndrome: a comparison with idiopathic autism.

Alterations in the X‐linked gene MECP2 encoding the methyl‐CpG‐binding protein 2 have been linked to autism spectrum disorders (ASDs). Most recently, data suggest that overexpression of MECP2 may be related to ASD. To better characterize the relevance of MECP2 overexpression to ASD‐related behaviors, we compared the core symptoms of ASD in MECP2 duplication syndrome to nonverbal mental age‐matched boys with idiopathic ASD. Within the MECP2 duplication group, we further delineated aspects of the behavioral phenotype and also examined how duplication size and gene content corresponded to clinical severity. We compared ten males with MECP2 duplication syndrome (ages 3–10) with a chronological and mental age‐matched sample of nine nonverbal males with idiopathic ASD. Our results indicate that boys with MECP2 duplication syndrome share the core behavioral features of ASD (e.g. social affect, restricted/repetitive behaviors). Direct comparisons of ASD profiles revealed that a majority of boys with MECP2 duplication syndrome are similar to idiopathic ASD; they have impairments in social affect (albeit to a lesser degree than idiopathic ASD) and similar severity in restricted/repetitive behaviors. Nonverbal mental age did not correlate with severity of social impairment or repetitive behaviors. Within the MECP2 duplication group, breakpoint size does not predict differences in clinical severity. In addition to social withdrawal and stereotyped behaviors, we also found that hyposensitivity to pain/temperature are part of the behavioral phenotype of MECP2 duplication syndrome. Our results illustrate that overexpression/increased dosage of MECP2 is related to core features of ASD. Autism Res 2012, ●●: ●●–●●.

Accuracy of Phenotyping Children With Autism Based on Parent Report: What Specifically Do We Gain Phenotyping “Rapidly”?

Autism spectrum disorder (ASD) is considered among the most heritable of all neurodevelopmental and psychiatric disorders, but identification of etiologically significant genetic markers and risk variants has been hampered by a lack of sufficiently large samples. Rapid phenotyping procedures, where self‐report measures are used instead of extensive clinical assessment, have been proposed as methods for amassing large genetic databases due to their hypothesized time‐efficiency and affordability. We assessed the diagnostic accuracy of potential rapid phenotyping procedures using the Social Communication Questionnaire and the Social Responsiveness Scale in a sample of 333 children who also received extensive phenotypic assessments. While the rapid phenotyping measures were able to accurately identify a large number of children with ASD, they also frequently failed to differentiate children with ASD from children with other complex neurobehavioral profiles. These data support the continued need of expert clinical validation in combination with rapid phenotyping procedures in order to accurately amass large‐scale genetic collections of children with ASD. Autism Res 2012,5:31–38.

Brief report: Service implementation and maternal distress surrounding evaluation recommendations for young children diagnosed with autism

There is limited evidence surrounding the ability of families of children with autism spectrum disorders to access and implement recommended interventions following diagnosis. The distress a family may encounter with regard to inability to access recommended services is also poorly understood. In this study, we present preliminary data regarding implementation of clinical recommendations following autism spectrum disorder diagnosis as well as associations of implementation with maternal functioning. In total, 75 mothers of young children diagnosed with autism spectrum disorder through a university-based preschool autism clinic returned surveys regarding access to recommended services as well as maternal mental health and distress. Results indicate that while families were able to implement numerous recommendations, specific categories of intervention were less likely to be received. Challenges implementing recommended services were not related to increased maternal distress. These results suggest that despite potential barriers toward accessing some specific recommended services following diagnosis of autism spectrum disorder, many families may be quite successful in implementing many other core recommended services and that failure to access such services may not necessarily negatively impact maternal mental health and distress.

Using the M-CHAT-R/F to Identify Developmental Concerns in a High-Risk 18-Month-Old Sibling Sample.

Objective: Given the high autism spectrum disorder (ASD) recurrence risk in younger siblings, it is important to identify early ASD markers within this high-risk population. Although there is increasing evidence that the Modified Checklist for Autism in Toddlers-Revised, with Follow-Up Interview can identify many low-risk children during the second year of life, there has yet to be a study of how the M-CHAT-R/F functions in a high-risk sibling population at very young ages. Methods: As part of a larger population-based study, the authors screened 74 infant siblings with the Modified Checklist for Autism in Toddlers-Revised, with Follow-Up Interview at 18 months and assessed diagnoses between the ages of 18 and 43 months. Results: The M-CHAT-R/F had the highest positive predictive value for identifying children at risk of any developmental concern (i.e., ASD, language delay). Overall, 33% of siblings who presented for follow-up evaluations received ASD diagnoses with an additional 22% showing other developmental concerns. Conclusion: Failing the M-CHAT-R/F at 18 months of age raises significant concern that a child will show some degree of developmental difference or delay over time. These findings highlight the need for close developmental monitoring of this high-risk sample.