Thyde Dumont-Mathieu

Validation of the Modified Checklist for Autism in Toddlers, Revised With Follow-up (M-CHAT-R/F)

OBJECTIVE: This study validates the Modified Checklist for Autism in Toddlers, Revised with Follow-up (M-CHAT-R/F), a screening tool for low-risk toddlers, and demonstrates improved utility compared with the original M-CHAT. METHODS: Toddlers (N = 16 071) were screened during 18- and 24-month well-child care visits in metropolitan Atlanta and Connecticut. Parents of toddlers at risk on M-CHAT-R completed follow-up; those who continued to show risk were evaluated. RESULTS: The reliability and validity of the M-CHAT-R/F were demonstrated, and optimal scoring was determined by using receiver operating characteristic curves. Children whose total score was ≥3 initially and ≥2 after follow-up had a 47.5% risk of being diagnosed with autism spectrum disorder (ASD; confidence interval [95% CI]: 0.41–0.54) and a 94.6% risk of any developmental delay or concern (95% CI: 0.92–0.98). Total score was more effective than alternative scores. An algorithm based on 3 risk levels is recommended to maximize clinical utility and to reduce age of diagnosis and onset of early intervention. The M-CHAT-R detects ASD at a higher rate compared with the M-CHAT while also reducing the number of children needing the follow-up. Children in the current study were diagnosed 2 years younger than the national median age of diagnosis. CONCLUSIONS: The M-CHAT-R/F detects many cases of ASD in toddlers; physicians using the 2-stage screener can be confident that most screen-positive cases warrant evaluation and referral for early intervention. Widespread implementation of universal screening can lower the age of ASD diagnosis by 2 years compared with recent surveillance findings, increasing time available for early intervention.

Correlates of Head Circumference Growth in Infants Later Diagnosed With Autism Spectrum Disorders

Previous research has demonstrated that children diagnosed with autism spectrum disorder show an abnormal acceleration of head growth during the first year of life. This study attempts to replicate these findings and to determine whether overgrowth is associated with clinical outcome. Measurements of head circumference, body length, and body weight taken during the first 2 years of life were obtained from a sample of 35 children diagnosed with autism spectrum disorder and compared to both national normative data (Centers for Disease Control and Prevention) and a control group of 37 healthy infants. Results demonstrated that compared to national averages, infants who were later diagnosed with autism spectrum disorder had a significantly smaller head circumference at birth to 2 weeks and a significantly larger head circumference by 10 to 14 months. Children with autism spectrum disorder were also significantly longer and heavier beginning at 1 to 2 months. However, when overall length and weight were controlled, head circumference was not bigger in the autistic spectrum disorder group compared to local controls. Correlations between head circumference and clinical outcome were significant for 5 of the 30 clinical variables that were run, suggesting that there appears to be no simple or straightforward relationship between head circumference and clinical outcome. Smaller head circumference at birth to 2 weeks was associated with a greater number of symptoms related to social impairment and a greater total number of autism spectrum disorder symptoms based on the Diagnostic and Statistical Manual of Mental Disorders , Fourth Edition criteria. Larger head circumference at 15 to 25 months was also associated with a greater number of symptoms of social impairment. In addition, greater head circumference change during the first 2 years was associated with poorer performance on the visual reception subtest of the Mullen Scales of Early Learning and a smaller number of stereotyped and repetitive behaviors and interests based on the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition criteria. These findings support previous findings of accelerated brain growth during the first year of life in autism spectrum disorder and question whether growth factors might contribute to both accelerated brain growth and overall body growth.

Screening Young Children for Autism Spectrum Disorders in Primary Practice

The increasing prevalence of autism spectrum disorders as well as emerging evidence of the efficacy of early intervention has focused attention on the need for early identification of young children suspected of having an ASSD. Several studies have suggested that while parents report concerns early in development, it may be months before children can be evaluated and services provided, and these delays may be even more marked in under-served populations. The American Academy of Pediatrics recently recommended universal screening for autism spectrum disorders at the 18- and 24-month well-child pediatric visit. The authors review several early screening tools currently in use and offer recommendations for integrating autism specific screening into primary care practice.

Accelerated Head and Body Growth in Infants Later Diagnosed With Autism Spectrum Disorders: A Comparative Study of Optimal Outcome Children:

Previous research has demonstrated accelerated head and body growth during infancy in children with autism spectrum disorders. No study has yet examined head growth in children who lose their autism spectrum disorder diagnoses. Head circumference, length, and weight growth during infancy for 24 children who maintained their diagnoses were compared with 15 children who lost their diagnoses, and to 37 typically developing controls. Results showed that head circumference and weight growth were significantly greater in both autism spectrum disorder groups compared with controls, with no significant differences between autism spectrum disorder groups. However, when length and weight were controlled for, accelerated head growth remained significant in the children who lost their diagnoses. Findings suggest that children who lose their autism spectrum disorder diagnoses and children who maintain their diagnoses show similar head circumference, length, and weight growth trajectories during infancy, although subtle differences in body growth between groups may exist.

Role of Pediatric Health Care Professionals in the Provision of Parenting Advice: A Qualitative Study With Mothers From 4 Minority Ethnocultural Groups

OBJECTIVE. This studys aim was to elicit the perspectives of minority parents on their expectations of pediatric health care providers as a source of advice on “raising their child” and whether they would seek advice from these providers. A secondary aim was to demonstrate the value of qualitative methods for assessing parental attitudes in pediatric research. METHODS. Mothers with children between 3 and 12 years of age who identified themselves as African American, Jamaican, Haitian, or Puerto Rican were recruited from community sites. Audiotaped focus groups were conducted by trained moderators using an interview guide, to obtain the perspectives of the participants regarding the role of pediatric providers in the provision of parenting advice. RESULTS. Ninety-one mothers participated in a total of 20 focus groups, with 4 to 6 discussions per ethnocultural group. The focus groups revealed that, in general, parents do not look to child health care providers for advice on raising their children. The identified themes emphasized the importance of the relationship between providers and families. A few parents had the type of relationship within which the pediatrician already functioned as a provider of parenting advice. Physicians were considered skilled in the maintenance of physical health. The parents expressed a desire to receive more anticipatory guidance on developmental and behavioral stages and milestones. Pediatricians also served specific administrative functions valued by parents. CONCLUSIONS. Minority parents of preschool-aged and school-aged children do not view the primary care providers role as including the provision of parenting advice. Expectations must be modified to enable health care professionals to function effectively in the role of advisor regarding parenting issues.

Optimizing Outcome in Autism Spectrum Disorders

Autism spectrum disorders (ASDs) are usually lifelong with wide ranging functional outcomes. Intensive behavioral intervention, implemented early, can improve outcome significantly. Some individuals, often with milder symptoms, if treated early, can attain social, cognitive, educational, and vocational functioning in the typical range. To qualify, children must be detected and diagnosed as early as possible. Without universal screening, many children from all backgrounds are not detected until past early childhood; children from economically disadvantaged and ethnic minority families are diagnosed and treated, on average, 2 years later than others. Primary care physician surveillance should incorporate parental concerns and be supplemented by universal ASD screening at 18 and 24 months. ASD screening in other community settings could detect risk in children who may not have primary or consistent medical care. Effective ASD diagnostic systems should encompass mildly affected children. Although universal screening can reduce inequities in identification, outcome disparities will persist while intervention funding remains local.

Genetic testing including targeted gene panel in a diverse clinical population of children with autism spectrum disorder: Findings and implications

Genetic testing of children with autism spectrum disorder (ASD) is now standard in the clinical setting, with American College of Medical Genetics and Genomics (ACMGG) guidelines recommending microarray for all children, fragile X testing for boys and additional gene sequencing, including PTEN and MECP2, in appropriate patients. Increasingly, testing utilizing high throughput sequencing, including gene panels and whole exome sequencing, are offered as well.