Developmental Milestones for Children With Down Syndrome.

OBJECTIVES: The American Academy of Pediatrics recommends that children and adolescents with Down syndrome receive anticipatory guidance regarding development and behavior. However, few tools provide specific guidance on developmental norms for children with Down syndrome. Our objective was to estimate age ranges at which children and adolescents with Down syndrome achieve developmental milestones to facilitate developmental screening by pediatric practitioners. METHODS: We used standardized questionnaires to obtain information from clinicians and caregivers of children with Down syndrome who received care at the Boston Children's Hospital Down Syndrome Program between March 2018 and March 2023. Data included information from 2599 visits for 842 individuals with Down syndrome ages 2 months to 24 years. We used mixed-effects logistic regressions to predict the probability of achieving 25 specific developmental milestones with 15%, 30%, 45%, 60%, 75%, and 90% probability as a function of age. We further stratified results by individuals' sex. RESULTS: We present age norms for our study's population of people with Down syndrome for key milestones in academic, adaptive, language, and motor domains by calculating the ages at which milestone achievement was 75% probable. We then compare these norms to published norms for the general population. CONCLUSIONS: This study provides clinicians and families with age-based norms for achievement of key developmental milestones for children and adolescents with Down syndrome.

Types and Predictors of Service use Among Young Children Recommended to Receive Intensive Services After Initial Autism Spectrum Disorder Diagnosis.

Intensive services are recommended for young children with autism spectrum disorder (ASD). Limited research on service receipt in states with mandated ASD-specific service coverage suggests that it remains low, and factors associated with intensity are unclear. Participants were 206 children from the Boston Outcomes of Autism in Toddlers study living in states with autism mandates, diagnosed with ASD through a multidisciplinary consultation at 12-36 months, and recommended to receive at least 20 h of services weekly. Outcome measures were caregiver-reported receipt of total and ASD-specific services within 18 months of ASD diagnosis. Separate negative binomial regression models were run for each outcome, with covariates of child adaptive and cognitive functioning, age, gender, household income, primary insurance, and maternal educational level. The sample was 83% male with a mean age of 24.5 months at ASD diagnosis. Mean Vineland adaptive behavior composite and Bayley cognitive standard scores were 73 and 81, respectively. 90% of children received ASD-specific services. The median intensities for total and ASD-specific services were 22 and 17 h weekly respectively, with 44% of the participants receiving at least 20 h of ASD-specific services weekly. Adjusted regression models found significant associations between lower adaptive scores and increased total and ASD-specific service receipt. Children in insurance-mandated states received a high intensity of intervention after clinical ASD diagnosis. Lower child adaptive functioning was associated with increased service receipt, while socioeconomic factors were not associated. Additional research in other regions and mandate-ineligible populations is needed.

Psychotropic Medication Prescription Patterns in Down Syndrome in a Large Pediatric Specialty Clinic.

Objectives: Patterns of psychotropic medication use in children and adolescents with Down syndrome (DS) are largely unknown. Clinical decisions are often made from evidence and experience from individuals with autism spectrum disorder (ASD) or intellectual disability (ID). Methods: Longitudinal data from 670 children with DS who received care in a specialty DS clinic from March 2021 to February 2024 were collected. After each clinic visit, the clinician indicated the presence or absence of co-occurring neurodevelopmental (ND) or mental health (MH) diagnoses, as well as whether the individual was prescribed a psychopharmacological treatment. We used descriptive statistics and analyzed associations between psychotropic medication use, co-occurring ND/MH conditions, and demographic data. Results: 19.1% of patients were prescribed at least one psychotropic medication at their most recent clinical visit. Alpha-agonists were the most commonly prescribed medication class (30.8%), followed by stimulants (18.9%), and antidepressants (16.7%). There was a significant difference in psychotropic medication use by age, with older children having increased odds of being prescribed a psychotropic medication. There were no differences in psychotropic medication use across sex (p = 0.10), race (p = 0.10), or household income (p = 0.16). Conclusions: We found that one-fifth of patients with DS were prescribed psychotropic medications. Nearly every individual with DS who was prescribed a psychotropic medication had a co-occurring ND/MH condition, yet these rates were lower than what have been reported in children with ID, ASD, and attention deficit/hyperactivity disorder. Further research needs to include those with DS to further understand medication efficacy and safe dosing practices to ensure optimal outcomes.

Persistence of Autism Spectrum Disorder From Early Childhood Through School Age.

Importance: While the prevalence of autism spectrum disorder (ASD) continues to increase and early diagnosis is emphasized, there is limited information on outcomes for children diagnosed with ASD in early childhood using contemporary diagnostic criteria. Objectives: To determine the frequency with which children who are clinically diagnosed with ASD at 12 to 36 months of age continue to meet diagnostic criteria for ASD at 5 to 7 years of age and to evaluate whether baseline child-specific and demographic characteristics and receipt of interventions are associated with ASD persistence. Design, Setting, and Participants: In this natural history cohort study, children who received a clinical ASD diagnosis at 12 to 36 months of age underwent a research diagnostic assessment at 5 to 7 years of age. Research assessments occurred from August 14, 2018, to January 8, 2022. Intervention: Children received community-based interventions, and parents provided details about interventions received. Main Outcomes and Measures: The main outcome was persistence of ASD diagnosis based on current functioning. An experienced research psychologist assigned an ASD diagnosis (present or absent) according to criteria from the Diagnostic and Statistical Manual of Mental Disorders (Fifth Edition) after the research assessment. The research assessment included administration of the Autism Diagnostic Observation Schedule-2, Autism Diagnostic Interview-Research, and a cognitive measure. Results: Of the 213 participants diagnosed with ASD at initial clinical assessment (mean [SD] age, 24.6 [3.9] months; 177 boys [83.1%]), 79 (37.1%) did not continue to meet diagnostic criteria for ASD (nonpersistent ASD) at research assessment (mean [SD] age, 74.3 [7.1] months). All children with nonpersistent ASD had IQ of at least 70, while there was a bimodal distribution of IQ for those with persistent ASD (46 with IQ <70 and 88 with IQ ≥70). All children received some interventions, and 201 (94.4%) received ASD-specific intervention, mostly applied behavioral analysis. In a multilevel logistic regression model, the only variables associated with increased odds of being in the nonpersistent ASD group at 6 years of age were higher baseline adaptive skills (b coefficient = -0.287 [SE, 0.108]) and female sex (b = 0.239 [SE, 0.064]). Conclusions and Relevance: The findings of this cohort study suggest that among toddlers diagnosed with ASD, baseline adaptive function and sex may be associated with persistence of ASD.