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

Baumer, Nicole; Hojlo, Margaret A.; Lombardo, Angela; Milliken, Anna; Pawlowski, Katherine; Sargado, Sabrina; Soccorso, Cara; Davidson, Emily; Barbaresi, William J.

doi:10.1177/17446295221133874

Cited by 6 publications

(6 citation statements)

References 36 publications

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“…All patients had clinician-verified ND/MH information available. Clinicians and caregivers designated each condition as “not present,” “current/ongoing,” or “past/resolved.” A detailed description of database infrastructure, database methodology, and data forms was previously reported [ 19 ]. This study analyzing the clinically-collected data was approved by the Institutional Review Board.…”

Section: Methodsmentioning

confidence: 99%

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

Spinazzi

Santoro

Pawlowski

et al. 2023

J Neurodevelop Disord

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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. Methods A single-center retrospective review of prospective longitudinally collected clinical data was performed. Any patient with a confirmed diagnosis of DS evaluated at a large, specialized Down Syndrome Program in a tertiary pediatric medical center between March 2018 and March 2022 was included. A standardized survey which included demographic and clinical questions was administered during each clinical evaluation. Results In total, 562 individuals with DS were included. The median age was 10 years (IQR: 6.18–13.92). Of this group, 72 (13%) had a co-occurring diagnosis of ASD (DS+ASD). Individuals with DS+ASD were more likely to be male (OR 2.23, CI 1.29–3.84) and had higher odds of a current or prior diagnosis of constipation (OR 2.19, CI 1.31–3.65), gastroesophageal reflux (OR 1.91, CI 1.14–3.21), behavioral feeding difficulties (OR 2.71, CI 1.02–7.19), infantile spasms (OR 6.03, CI 1.79–20.34) and scoliosis (OR 2.73, CI 1.16–6.40). There were lower odds of congenital heart disease in the DS+ASD group (OR 0.56, CI 0.34–0.93). There was no observed difference in prematurity or Neonatal Intensive Care Unit complications between groups. Individuals with DS+ASD had similar odds of having a history of congenital heart defect requiring surgery to those with DS only. Furthermore, there was no difference in rates of autoimmune thyroiditis or celiac disease. There was also no difference in rates of diagnosed co-occurring neurodevelopmental or mental health conditions in this cohort, including anxiety disorders and attention-deficit/hyperactivity disorder. Conclusions This study identifies a variety of medical conditions which are more frequent in children with DS+ASD than DS alone, providing important information for the clinical management of these patients. Future research should investigate the role of some of these medical conditions in the development of ASD phenotypes, and whether there may be distinct genetic and metabolic contributions towards these conditions.

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Section: Methodsmentioning

confidence: 99%

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

Spinazzi

Santoro

Pawlowski

et al. 2023

J Neurodevelop Disord

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“…Additional discrepancies and outliers that were identified during data organization and analysis were resolved by further medical review conducted by the clinician or a clinical research coordinator. Of note, most data discrepancies were the result of caregivers continuing to report “past/resolved” conditions as “active,” or caregivers forgetting to report long‐standing chronic conditions as “current/ongoing.” Further methodology and details regarding the creation and implementation of the clinical database, including data forms, were previously reported (Baumer et al, 2022). Institutional Review Board approval was obtained to analyze these clinical data, and study procedures adhered to the Declaration of Helsinki.…”

Section: Methodsmentioning

confidence: 99%

“…The Down Syndrome Program (DSP) at a large developmental pediatrics center in a specialty pediatric referral hospital created a clinical database in which standardized data are obtained from clinical visits (Baumer et al, 2022). The long‐term goals of the database are to: (1) improve the quality and consistency of data acquired for clinical visits to advance care; (2) describe the time course and incidence of co‐occurring medical, neurodevelopmental, and mental health conditions in children and adolescents with DS and the relationships among these conditions; and (3) make discoveries related to patterns of development and the impact of sociodemographic, psychosocial, and medical factors.…”

Section: Introductionmentioning

confidence: 99%

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

Baumer,

Hojlo,

Pawlowski

et al. 2023

American J of Med Genetics Pt C

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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. Conditions were collected through caregiver‐ and clinician report at clinical visits (N = 599). We calculated frequencies of medical, ND, and MH conditions and then assessed the relationship between medical, ND, and MH conditions using frequencies and comparative statistics. The most frequent co‐occurring conditions were vision (72.5%), ear/hearing (71.0%), gastrointestinal (61.3%), respiratory (45.6%), and feeding (33.6%) problems, with variation in frequency by age. ND and MH conditions were reported in one quarter, most commonly autism spectrum disorder and attention‐deficit/hyperactivity disorder. Those with ND and MH conditions had greater frequency of medical conditions, with highest rates of vision, ear/hearing, and gastrointestinal issues, and CHD. Systematically collected clinical data in a large cohort of children with DS reveals high prevalence of several co‐occurring medical, ND, and MH conditions. Clinical care requires an understanding of the complex relationship between medical conditions and neurodevelopment.

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“…A description of the development and data collection methods of this database has been published previously. 18 The minimum age of 4 years for inclusion in this study was chosen to reflect the age at which most typically developing children would be expected to perform the expressive language skills captured on the ASD-PROM. The maximum age of 22 years for this study reflects the oldest age of patients seen within the DSP.…”

Section: Methodsmentioning

confidence: 99%

“…The ASD-PROM is a 127-question web-based caregiver-reported questionnaire developed by a multidisciplinary team to assess behavioral and developmental functioning of children with ASD and other neurodevelopmental disabilities. 18 Clinically relevant domains addressed within the ASD-PROM include language, nonverbal communication, social skills, adaptive/toileting skills, sensory processes, mental health, restricted or repetitive behaviors and interests, impulse/attention deficit hyperactivity disorder symptoms, and behaviors. Within the expressive language domain, there are 9 items that were used in our model.…”

Section: Methodsmentioning

confidence: 99%

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

Spellun,

Harstad,

Hojlo

et al. 2023

J Dev Behav Pediatr

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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. Linear regression was used to explore associations between CREL classes and predictor variables. Results: Latent variable modeling revealed 3 distinct classes of CREL abilities representing higher, middle, and lower CREL. Individuals in the lower CREL class were more likely to be female, to use sign language or visual communication systems, have reduced pronunciation, attend private or residential school, and to be in a substantially separate classroom. Membership was not predicted by complex medical histories or co-occurring neurodevelopmental diagnoses. Conclusion: Caregiver-reported expressive language abilities in a cohort of individuals with DS were variable, with most of the individuals belonging to higher or middle CREL classes, relative to one another. Additional studies are indicated to understand factors that predict higher expressive language ability and explore how to direct services to individuals who are at risk of more profound language delays.

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

Cited by 6 publications

References 36 publications

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

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

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

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

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