Screening and Referral Practices for Autism Spectrum Disorder in Primary Pediatric Care.

OBJECTIVES: To examine screening practices for autism spectrum disorder (ASD), subsequent referrals, and diagnostic outcomes within a large network of primary pediatric care practices. METHODS: Rates of ASD screening with the Modified Checklist for Autism in Toddlers (M-CHAT) at 18- and 24-month well-child visits were examined among 290 primary care providers within 54 pediatric practices between June 2014 and June 2016. Demographic, referral, and diagnostic data were abstracted from the medical records for all children who failed the M-CHAT (ie, score of ≥3) at either or both visits. RESULTS: Rates of M-CHAT screening were 93% at 18 months and 82% at 24 months. Among 23 514 screens, scores of 648 (3%) were ≥3 (386 at 18 months, 262 at 24 months) among 530 unique children who failed 1 or both screenings. Among screen-failed cases, 18% received a diagnosis of ASD and 59% received ≥1 non-ASD neurodevelopmental disorder diagnosis within the follow-up period. Only 31% of children were referred to a specialist for additional evaluation. CONCLUSIONS: High rates of ASD-specific screening do not necessarily translate to increases in subsequent referrals for ASD evaluation or ASD diagnoses. Low rates of referrals and/or lack of follow-through on referrals appear to contribute to delays in children's receipt of ASD diagnoses. Additional education of primary care providers regarding the referral process after a failed ASD screening is warranted.

Ancillary referral patterns in infants after initial assessment in a cardiac developmental outcomes clinic.

OBJECTIVE: Neurodevelopmental impairment is common after surgery for congenital heart disease (CHD) in infancy. While neurodevelopmental follow-up of high-risk patients has increased, the referral patterns for ancillary services following initial evaluation have not been reported. The aim of this study is to describe the rates and patterns of referral at the initial visit to our outcomes clinic of patients who underwent surgery for CHD during infancy. OUTCOMES MEASURES: The Cardiac Developmental Outcomes Program clinic at Texas Children's Hospital provides routine longitudinal follow-up with developmental pediatricians and child psychologists for children who required surgery for CHD within the first 3 months of life. Demographic, diagnostic, and clinical data, including prior receipt of intervention and referral patterns at initial presentation, were abstracted from our database. RESULTS: Between April 2013 and May 2017, 244 infants under 12 months of age presented for initial evaluation at a mean age of 7 ± 1.3 months. At presentation, 31% (76/244) were referred for either therapeutic intervention (early intervention or private therapies), ancillary medical services, or both. Referral rates for low-risk (STAT 1-3) and high-risk (STAT 4-5) infants were similar (28 vs. 33%, P = .48). Referrals were more common in: Hispanic white infants (P = .012), infants with non-cardiac congenital anomalies (P = .001), history of gastrostomy tube placement (P < .001), and infants with prior therapy (P = .043). Infants of non-English speaking parents were three times more likely to be referred (95% CI = 1.5, 6.4; P = .002). CONCLUSIONS: At the time of presentation, nearly 1 in 3 infants required referral. Referral patterns did not vary by traditional risk stratification. Sociodemographic factors and co-morbid medical conditions increased the likelihood of referral. This supports the need for routine follow-up for all post-surgical infants regardless of level of surgical complexity. Further research into the completion of referrals and long-term referral patterns is needed.

Novel deletion of 6p21.31p21.1 associated with laryngeal cleft, developmental delay, dysmorphic features and vascular anomaly.

Interstitial deletions involving chromosome region 6p21.31p21.2 have not been previously reported in the literature. Here, we present a 2 year old girl with global developmental delay, severe speech delay, dysmorphic features, laryngeal cleft, anterior descending aorta that occluded the left main bronchus and a novel de novo deletion of chromosome 6: arr[hg19] 6p21.31p21.2 (35462950-36725083)x1. The deletion, which was diagnosed by array comparative genomic hybridization and further confirmed with fluorescence in situ hybridization, was approximately 1.26 Mb and contained 28 RefSeq genes. The deleted region includes 24 protein coding genes and 4 non-coding genes. This represents a novel microdeletion that has not been previously reported in the literature.

Early Intervention Before Autism Diagnosis in Children Referred to a Regional Autism Clinic.

OBJECTIVE: To determine the prevalence of receipt of early intervention and therapeutic services in children suspected of having possible autism spectrum disorder (ASD) before their diagnostic ASD evaluations. METHODS: The electronic medical records of all children ≤5 years of age evaluated at a single regional ASD clinic between September 2012 and June 2014 were reviewed. Information regarding type of services, clinical diagnoses, and demographic information was abstracted for each patient. RESULTS: Five hundred sixty-one children (mean age = 44 mo [SD, 10 mo]; 80% [N = 450] male; 20% [N = 111] female) completed a diagnostic ASD evaluation. Of these children, 497 (89%) were already receiving early intervention services, and only 64 (11%) were not receiving any services. Receipt of services did not vary based on race, ethnicity, insurance type, or primary language. Children who were already receiving services were more likely to receive an ASD diagnosis (67%, N = 332) than those not receiving services (44% [N = 28]; p ≤ .001). CONCLUSION: Despite concerns that long wait lists for diagnostic ASD evaluations may delay initiation of critical early interventions, our data indicate that most children are receiving early intervention services before their diagnostic ASD evaluations, particularly if an ASD diagnosis is confirmed. This may be attributable to increased awareness among primary care providers and families of the importance of early interventions. Further investigation into access to more intensive interventions (such as applied behavioral analysis) once an ASD diagnosis is established is warranted.

Prevalence of Autism Spectrum Disorder in Children Referred for Diagnostic Autism Evaluation.

Increased public awareness of autism spectrum disorders (ASD) and routine screening in primary care have contributed to increased requests for diagnostic ASD evaluations. However, given the scarcity of subspecialty autism diagnostic resources, overreferral of children suspected of having ASD may be contributing to long waiting lists at tertiary care autism centers and delaying diagnosis for those children who truly have ASD. To determine whether children are being excessively referred to ASD-specific diagnostic clinics, our objective was to determine the prevalence of true ASD diagnoses in children referred for diagnostic ASD evaluation. Charts of all patients referred to a regional autism center between April 2011 and August 2012 for suspicion of a possible ASD were retrospectively reviewed and demographic and clinical diagnoses abstracted. Only 214 of 348 patients evaluated (61%) received an ASD diagnosis. Thus, concerns about autism are not confirmed by an ASD diagnosis in a significant number of children.