Development, education, and services in children with Down syndrome: a cohort analysis from a clinical database.

Background: Prior research has characterized neurodevelopmental phenotypes for Down syndrome (DS), but there is variability in age of milestone attainment and limited identification of early predictors of developmental trajectories. Additionally, less is known about receipt of education and services in relation to development.

Objective: This study describes the delivery of education and therapies in the setting of general developmental and behavioral needs in a large clinical cohort of children with DS seen in a specialized Down Syndrome Program (DSP).

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.

Alterations in aperiodic and periodic EEG activity in young children with Down syndrome.

Down syndrome (DS) is the most common cause of intellectual disability, yet little is known about the neurobiological pathways leading to cognitive impairments. Electroencephalographic (EEG) measures are commonly used to study neurodevelopmental disorders, but few studies have focused on young children with DS. Here we assess resting state EEG data collected from toddlers/preschoolers with DS (n = 29, age 13-48 months old) and compare their aperiodic and periodic EEG features with both age-matched (n = 29) and developmental-matched (n = 58) comparison groups.

The JASPER (Joint Attention, Symbolic Play, Engagement and Regulation) Intervention in Down Syndrome: A pilot study.

Background: Children with Down syndrome (DS) often need support building language, socialization, and regulation, yet few receive behavioral intervention for this. The Joint Attention, Symbolic Play, Engagement and Regulation (JASPER) intervention holds promise as a clinician-caregiver-mediated approach.

Aims: The aims of this pilot study were to (1) describe the behavioral phenotype of children with DS (2) quantify change in child engagement following JASPER receipt, (3) measure caregiver adoption of JASPER strategies, and (4) generate hypotheses and directions for future research.

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

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). Longitudinal data from 670 children with DS who received care in a specialty DS clinic from March 2021 to February 2024 were collected.

Alterations in aperiodic and periodic EEG activity in young children with Down syndrome.

Down syndrome is the most common cause of intellectual disability, yet little is known about the neurobiological pathways leading to cognitive impairments. Electroencephalographic (EEG) measures are commonly used to study neurodevelopmental disorders, but few studies have focused on young children with DS. Here we assess resting state EEG data collected from toddlers/preschoolers with DS (n=29, age 13-48 months old) and compare their aperiodic and periodic EEG features with both age-matched (n=29) and cognitive-matched (n=58) comparison groups.

Validation of factor structure of the neurodevelopmental parent report for outcome monitoring in down syndrome: confirmatory factor analysis.

Introduction: The Neurodevelopmental Parent Report for Outcome Monitoring (ND-PROM), initially developed to monitor developmental and behavioral functions in children with autism spectrum disorder (ASD), assesses symptoms across a wide range of domains relevant in Down syndrome (DS).

Methods: Psychometric properties of ND-PROM were assessed in 385 individuals with DS and 52 with a combined diagnosis of DS and ASD (DS+ASD), whose caregivers completed the ND-PROM questionnaire for a clinical visit in a specialized Down syndrome program at a tertiary pediatric hospital. Confirmatory factor analysis was conducted to evaluate the internal structure validity of the ND-PROM.

Cross-Sectional Analysis of Caregiver-Reported Expressive Language Profiles and Associated Covariates in Individuals with Down Syndrome.

Objective: To describe the distribution of expressive language abilities of individuals with Down syndrome (DS) in a clinical sample and characterize demographic, environmental, and medical factors associated with varying expressive language profiles.

Methods: Cross-sectional analysis was completed on a sample of 345 individuals with DS between the ages of 4 and 22 years who were enrolled into a longitudinal clinical database between March 2018 and August 2021. Expressive language-related items on a standardized caregiver-reported questionnaire assessing domains of functioning in neurodevelopmental disorders were used to conduct latent variable modeling and determine caregiver-reported expressive language (CREL) classes across the sample.

Co-occurring conditions in Down syndrome: Findings from a clinical database.

Individuals with Down syndrome (DS) experience a range of medical and neurodevelopmental conditions, necessitating systematic study of their occurrence and impact on neurodevelopmental outcomes. We describe the prevalence and relationships of medical, neurodevelopmental (ND), and mental health (MH) conditions in children with DS. We created a prospective clinical database of individuals with DS, integrated into the workflow of a specialty Down Syndrome Program at a specialty pediatric referral hospital.

Clinically derived 12-factor structure and confirmatory factor analysis of the neurodevelopmental parent report for outcome monitoring.

Unlabelled: Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by social communication and social interaction impairments accompanied by restrictive and repetitive behaviors or interests. Co-occurring conditions may greatly impact overall functioning and intervention needs, and contribute to individual variability and etiologic subtypes. Clinical care of individuals with ASD requires gathering a breadth of information across multiple domains.

Quality of Life and Family Impact in Down Syndrome, Autism Spectrum Disorder, and Co-occurring Down Syndrome and Autism Spectrum Disorder.

Objective: Families of children with neurodevelopmental disorders have developmental, behavioral, and social-emotional needs that affect quality of life (QoL). This study assesses the validity and utility of a caregiver QoL measure; characterizes QoL in families with children with Down syndrome (DS), autism spectrum disorder (ASD), and a dual diagnosis of DS and ASD (DS + ASD); and compares and explores differences in QoL based on diagnosis.

Methods: Caregivers of children and adolescents with ASD (n = 610) and DS (n = 177) completed the Pediatric Quality of Life Inventory Family Impact Module 2.

Co-occurring conditions in children with Down syndrome and autism: a retrospective study.

Background: Down syndrome (DS) is one of the most common genetic causes of intellectual disability, and it is associated with an increased incidence of numerous co-occurring conditions. Autism spectrum disorder (ASD) is common in persons with DS, with rates reported as high as 39%. However, little is known regarding co-occurring conditions in children with both DS and ASD.

Cardiometabolic profiles in children and adults with overweight and obesity and down syndrome.

Individuals with Down syndrome (DS) are at increased risk for being overweight/obese, but the associated cardiometabolic risk (CR) is not clear. Cross-sectional anthropometric and clinical laboratory data from a multi-site, international cohort of individuals with DS were analyzed to determine cardiometabolic risk by reporting observed distributions of cardiometabolic biomarkers in overweight/obese individuals with DS throughout the lifespan. Descriptive statistics and regression analyses by age categories determined the distributive percentiles for cardiometabolic biomarkers and tested for adiposity as a predictor of CR.

Development and implementation of a longitudinal clinical database for down syndrome in a large pediatric specialty clinic: Methodology and feasibility.

Down syndrome (DS) is a complex condition associated with multiple medical, developmental, and behavioral concerns. A prospective, longitudinal clinical database was integrated into a specialty Down Syndrome Program, with the goals of better understanding the incidence, course, and impact of co-occurring medical, neurodevelopmental, and mental health conditions in DS. We describe the process of developing the database, including a systematic approach to data collection and database infrastructure, and report on feasibility, challenges, and solutions of initial implementation.

Is Developmental Regression in Down Syndrome Linked to Life Stressors?

Objective: Unexplained regression in Down syndrome (URDS) involves a loss of acquired skills resulting in functional deterioration. Despite extensive workup and treatment, few individuals regain baseline function. This study aimed to understand the role of psychosocial stressors in URDS.

Autism Spectrum Disorder Parent Report for Outcome Monitoring: A Preliminary Report of Development and Clinical Utility.

Objective: Children with autism spectrum disorder (ASD) face challenges across many functional domains. A tool that gathers relevant clinical information before visits, emphasizing symptoms that are likely to change over development and inform clinical interventions, could improve health care quality, allowing for more patient-centered and efficient care. This study evaluated the clinical utility and preliminary psychometrics of the ASD Parent Report for Outcome Monitoring (ASD-PROM), a web-based measure assessing competence in core features of ASD, along with the breadth of concerns and comorbidities that frequently co-occur with ASD.

Investigating Potential Biomarkers in Autism Spectrum Disorder.

Background: Early identification and treatment of individuals with autism spectrum disorder (ASD) improves outcomes, but specific evidence needed to individualize treatment recommendations is lacking. Biomarkers that could be routinely measured within the clinical setting could potentially transform clinical care for patients with ASD. This demonstration project employed collection of biomarker data during regular autism specialty clinical visits and explored the relationship of biomarkers with clinical ASD symptoms.

Feasibility of Conducting Autism Biomarker Research in the Clinical Setting.

Objective: Recruitment and completion of research activities during regular clinical care has the potential to increase research participation in complex neurodevelopmental disorders. We evaluated the feasibility, and effect on clinical care, of conducting biomarker research within a subspecialty clinical visit for autism spectrum disorder (ASD).

Methods: Children, aged 5 to 10 years, were recruited by providers in ASD clinics at 5 institutions.

Review of Salient Investigational Drugs for the Treatment of Fragile X Syndrome.

Objectives: Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability, in addition to being the commonest diagnosable cause of autism. The identification of the biochemical mechanism underlying this disorder has provided amenable targets for therapy. This review aims to provide an overview of investigational drug therapies for FXS.