Developmental and behavioral phenotypes of pediatric patients with PTEN hamartoma tumor syndrome.

Our study characterized the neurodevelopmental spectrum of individuals with PTEN Hamartoma Tumor Syndrome (PHTS), a syndrome that predisposes to both neurodevelopmental phenotypes and cancer risk. We aim to better understand life-impacting neurodevelopmental features of PHTS. Our study recruited 20 children/adolescents with PHTS, who were then administered assessments for autism spectrum disorder (ASD) and other neurocognitive measures, including assessment of IQ, executive and adaptive functioning, and health-related quality of life. Thirteen individuals (65%) were identified as having ASD, of which five were newly diagnosed during the study. Of those, ASD symptom severity was in the mild-moderate range for 77%. Overall, IQ was in the average range, with a mean of 92.61 (SD 24.45, p = 0.5), though there was a non-statistically significant trend toward individuals without ASD having a higher mean IQ (102.7 vs 82.3; p = 0.1). Subjects had significant impairment in processing speed (mean 75.38, SD 24.75, p < 0.05), decreased adaptive functioning skills across all domains, and a trend toward having more executive functioning problems. Individuals with PHTS are at increased risk of neurodevelopmental disorders, including ASD and impaired executive and adaptive functioning. Although clear guidelines exist for cancer surveillance for individuals with PHTS, additional guidelines and screening for neurodevelopmental disorders are warranted.

Autism Spectrum Disorder Screening During the COVID-19 Pandemic in a Large Primary Care Network.

OBJECTIVE: To assess the impact of the COVID-19 pandemic on screening for autism spectrum disorder (ASD) and screening equity among eligible children presenting for well-child care in a large primary care pediatric network, we compared rates of ASD screening completion and positivity during the pandemic to the year prior, stratified by sociodemographic factors. METHODS: Patients who presented for in-person well-child care at 16 to 26 months between March 1, 2020 and February 28, 2021 (COVID-19 cohort, n = 24,549) were compared to those who presented between March 1, 2019 and February 29, 2020 (pre-COVID-19 cohort, n = 26,779). Demographics and rates of completion and positivity of the Modified Checklist for Autism in Toddlers with Follow-up (M-CHAT/F) were calculated from the electronic health record and compared by cohort using logistic regression models. RESULTS: Total eligible visits decreased by 8.3% between cohorts, with a greater decline in Black and publicly insured children. In the pre-COVID-19 cohort, 89.0% of eligible children were screened at least once, compared to 86.4% during the pandemic (P < 0.001). Significant declines in screening completion were observed across all sociodemographic groups except among Asian children, with the sharpest declines among non-Hispanic White children. Sociodemographic differences were not observed in screen-positive rates by cohort. CONCLUSIONS: Well-child visits and ASD screenings declined across groups, but with different patterns by race and ethnicity during the COVID-19 pandemic. Findings regarding screen-completion rates should not be interpreted as a decline in screening disparities, given differences in who presented for care. Strategies for catch-up screening for all children should be considered.

Provider Responses to Positive Developmental Screening: Disparities in Referral Practices?

OBJECTIVES: Guidelines recommend universal screening for developmental concerns in young children in pediatric primary care, with referral to early intervention (EI) as early as possible for children with a positive screen. However, participation in EI differs by child race, ethnicity, language, and sex. This study evaluated disparities in rates of referral to EI and estimated the factors associated with referral before and immediately after a positive developmental screen. METHODS: Children seen in a large primary care network that has implemented universal developmental screening were included if they screened positive on the Survey of Well-being of Young Children (SWYC) Milestones during a 16- to 30-month well-child visit (n = 7358). Demographics, screening results, and referrals were extracted from the electronic health record. RESULTS: Among children who screened positive, 17.5% were already in EI, and 39.9% were referred to EI during the visit with positive screen; 42.5% were not referred. In adjusted regression, the following factors were associated with being in EI before the positive screen: lower SWYC score and being male, older, and White. The following factors were associated with new referral to EI during a visit with positive SWYC: having lower SWYC score or lower income and being male, older, and Black race. CONCLUSION: The finding that White children were more likely referred before developmental screening and non-White children more likely referred at the time of positive screen suggests that screening decreases disparities by increasing referral for children with developmental delays from traditionally underserved backgrounds.

Adherence to screening and referral guidelines for autism spectrum disorder in toddlers in pediatric primary care.

OBJECTIVES: Although the American Academy of Pediatrics recommends screening for autism spectrum disorder (ASD) for all young children, disparities in ASD diagnosis and intervention in minority children persist. One potential contributor to disparities could be whether physicians take different actions after an initial positive screen based on patient demographics. This study estimated factors associated with physicians completing the follow-up interview for the Modified Checklist for Autism in Toddlers with Follow-up (M-CHAT-F), and referring children to diagnostic services, audiology, and Early Intervention (EI) immediately after a positive screen. METHODS: Children seen in a large primary care network that has implemented universal ASD screening were included if they screened positive on the M-CHAT parent questionnaire during a 16-30 month well child visit (N = 2882). Demographics, screening results, and referrals were extracted from the electronic health record. RESULTS: Children from lower-income families or on public insurance were more likely to have been administered the follow-up interview. Among children who screened positive, 26% were already in EI, 31% were newly referred to EI, 11% were referred each to audiology and for comprehensive ASD evaluation. 40.2% received at least one recommended referral; 3.7% received all recommended referrals. In adjusted multivariable models, male sex, white versus black race, living in an English-speaking household, and having public insurance were associated with new EI referral. Male sex, black versus white race, and lower household income were associated with referral to audiology. Being from an English-speaking family, white versus Asian race, and lower household income were associated with referral for ASD evaluation. A concurrent positive screen for general developmental concerns was associated with each referral. CONCLUSIONS: We found low rates of follow-up interview completion and referral after positive ASD screen, with variations in referral by sex, language, socio-economic status, and race. Understanding pediatrician decision-making about ASD screening is critical to improving care and reducing disparities.

Accuracy of Autism Screening in a Large Pediatric Network.

BACKGROUND: Universal screening is recommended to reduce the age of diagnosis for autism spectrum disorder (ASD). However, there are insufficient data on children who screen negative and no study of outcomes from truly universal screening. With this study, we filled these gaps by examining the accuracy of universal screening with systematic follow-up through 4 to 8 years. METHODS: Universal, primary care-based screening was conducted using the Modified Checklist for Autism in Toddlers with Follow-Up (M-CHAT/F) and supported by electronic administration and integration into electronic health records. All children with a well-child visit (1) between 16 and 26 months, (2) at a Children's Hospital of Philadelphia site after universal electronic screening was initiated, and (3) between January 2011 and July 2015 were included (N = 25 999). RESULTS: Nearly universal screening was achieved (91%), and ASD prevalence was 2.2%. Overall, the M-CHAT/F's sensitivity was 38.8%, and its positive predictive value (PPV) was 14.6%. Sensitivity was higher in older toddlers and with repeated screenings, whereas PPV was lower in girls. Finally, the M-CHAT/F's specificity and PPV were lower in children of color and those from lower-income households. CONCLUSIONS: Universal screening in primary care is possible when supported by electronic administration. In this "real-world" cohort that was systematically followed, the M-CHAT/F was less accurate in detecting ASD than in previous studies. Disparities in screening rates and accuracy were evident in traditionally underrepresented groups. Future research should focus on the development of new methods that detect a greater proportion of children with ASD and reduce disparities in the screening process.

Autism spectrum disorder and neurodevelopmental delays in children with giant omphalocele.

OBJECTIVE: To determine the prevalence and identify risk factors of autism spectrum disorders (ASDs) and neurodevelopmental delays in giant omphalocele (GO) survivors. MATERIALS AND METHODS: The study cohort consists of 47 GO survivors enrolled in our follow-up program between 07/2004 and 12/2015. All patients underwent assessments at 2 years of age or older. Outcomes were assessed by either the Bayley Scales of Infant Development II (prior 2006) or III (after 2006), or the Wechsler Preschool and Primary Scale of Intelligence (children older than 4 years). ASD diagnosis was made based on the Diagnostic and Statistical Manual of Mental Disorders IV (prior to 2014) or 5 criteria. RESULTS: The prevalence of ASD in GO children is 16 times higher than the general population (P = 0.0002). ASD patients were more likely to be diagnosed with neurodevelopmental and neurofunctional delays, language disorders, and genetic abnormalities (P < 0.01). While 53.2% of GO children scored within the average range for all developmental domains, 19.1% scored within the mildly delayed and 27.7% in the severe delayed range in at least one domain. Prolonged respiratory support, pulmonary hypertension, gastroesophageal reflux disease, feeding problems, prolonged hospitalization, abnormal BAER hearing screen, presence of delayed motor coordination, and hypotonicity were associated with delayed scores (P < 0.05). CONCLUSIONS: There is a significant rate of ASD in GO survivors. Neurodevelopmental delays, language delays, and genetic abnormalities were strongly associated with ASD. Neurological impairments were present in nearly half of GO children. Surrogate markers of disease severity were associated with below average neurodevelopmental scores. Level of evidence Level IV.

Autism spectrum disorder reclassified: a second look at the 1980s Utah/UCLA Autism Epidemiologic Study.

The purpose of the present study was to re-examine diagnostic data from a state-wide autism prevalence study (n = 489) conducted in the 1980s to investigate the impact of broader diagnostic criteria on autism spectrum disorder (ASD) case status. Sixty-four (59 %) of the 108 originally "Diagnosed Not Autistic" met the current ASD case definition. The average IQ estimate in the newly identified group (IQ = 35.58; SD = 23.01) was significantly lower than in the original group (IQ = 56.19 SD = 21.21; t = 5.75; p < .0001). Today's diagnostic criteria applied to participants ascertained in the 1980s identified more cases of autism with intellectual disability. The current analysis puts this historic work into context and highlights differences in ascertainment between epidemiological studies performed decades ago and those of today.

The each child study: systematic screening for autism spectrum disorders in a pediatric setting.

OBJECTIVE: The goal of this study was to investigate the feasibility and outcome of a systematic autism screening process for all toddlers (aged 14-30 months) in a large, community-based pediatric practice. METHODS: All toddlers who presented to the clinic during the 6-month screening period were eligible. We used 2 screening questionnaires and allowed physicians to refer directly to capture as many children as possible. Receptionists and medical assistants distributed and collected screening questionnaires; research staff did all scoring and follow-up, either by telephone or in person when indicated. RESULTS: We obtained a high rate of screening (80% of eligible children). Of the 796 children screened, 3 had already been diagnosed with an autism spectrum disorder (ASD); an additional 10 children who showed signs of early ASD that warranted further evaluation or intervention were identified. Formal screening measures identified more children with ASD than did clinical judgment or caregiver concerns; however, no single method (ie, questionnaire, caregiver concerns, provider concerns) identified all children with signs of early ASD. We had excellent participation from racially and ethnically diverse families, including Spanish-speaking families. Thirty-two percent of the children who were screened did not present for a well-child visit during the study period and were screened at a sick visit, follow-up visit, or injection appointment. CONCLUSIONS: A partnership between pediatricians and autism specialists resulted in effective, systematic autism screening. Future studies should examine how to create effective systems of care.