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Parents' initial concerns about the development of their children later diagnosed with fragile X syndrome.

ABSTRACT: Retrospective parental reports have often been used to identify the early characteristics of children later diagnosed with a developmental disorder.We applied this methodology to document 13 parents' initial concerns about the development of their 17 children later diagnosed with fragile X syndrome (FXS). Parents were additionally asked about when they noticed the emergence of behavioural signs related to FXS.More than half of the parents reported initial concerns prior to the child's first birthday and in most cases it was deviant motor behaviours that caused the first concerns. Behavioural signs related to the FXS phenotype were also reported to be perceptible in the first year of the child's life.Due to limitations of retrospective parental questionnaires, we suggest that other methodologies, such as home video analysis, are needed to complement our understanding of the pathways of developmental disorders with late clinical onsets.

SUBMITTER: Zhang D

PROVIDER: S-EPMC5985965 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature

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Parents' initial concerns about the development of their children later diagnosed with fragile X syndrome.

Zhang Dajie D Kaufmann Walter E WE Sigafoos Jeff J Bartl-Pokorny Katrin D KD Krieber Magdalena M Marschik Peter B PB Einspieler Christa C

Journal of intellectual & developmental disability 20160918 2

<h4>Background</h4>Retrospective parental reports have often been used to identify the early characteristics of children later diagnosed with a developmental disorder.<h4>Method</h4>We applied this methodology to document 13 parents' initial concerns about the development of their 17 children later diagnosed with fragile X syndrome (FXS). Parents were additionally asked about when they noticed the emergence of behavioural signs related to FXS.<h4>Results</h4>More than half of the parents reporte ...[more]

PMID: 29875616

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Project description:Fragile X syndrome (FXS) is the leading cause of inherited intellectual disability and autism spectrum disorder. Individuals with FXS often present with a wide range of cognitive deficits and problem behaviors. Educational, behavioral and pharmacological interventions are used to manage these and other complex issues affecting individuals with FXS. Despite the success of preclinical models and early-phase drug clinical studies in FXS, large-scale randomized-controlled trials have failed to meet primary endpoints. Currently, no targeted or disease-modifying treatments for FXS have received regulatory approval. Here, we examined the placebo response in FXS clinical trials conducted between 2006 and 2018. Specifically, we performed a meta-analysis of placebo-treated groups in eight double-blind, randomized controlled trials. Placebo groups demonstrated significant improvements on caregiver-rated efficacy endpoints, which were greater in adolescents and adults than in children. Among the latter measures, the Visual Analog Scale scores displayed the greatest improvements, whereas the positive effects on the Vineland-II Adaptive Behavior Composite and the Aberrant Behavior Checklist-Community/fragile X version were statistically significant in both children and adolescents/adults. Although the Clinical Global Impression scale Improvement appears to have exhibited a substantial placebo effect in multiple clinical trials in FXS, limited data availability for meta-analysis, prevented us from drawing conclusions. No placebo-related improvements were observed in performance-rated measures. These findings raise substantial concerns about placebo effects in outcome measures commonly used in the randomized-controlled trials in FXS and suggest several potential improvements in the study design and implementation of such trials. Considering the small number of trials available for this study, larger and more detailed follow up meta-analyses are needed. Meanwhile, efforts to improve the measurement properties of endpoints and rater training in drug trials in FXS should be prioritized.

Project description:Children with autism spectrum disorder (ASD) or attention deficit hyperactivity disorder (ADHD) have 2-3 times increased healthcare utilization and annual costs once diagnosed, but little is known about their utilization patterns early in life. Quantifying their early health system utilization could uncover condition-specific health trajectories to facilitate earlier detection and intervention. Patients born 10/1/2006-10/1/2016 with ≥ 2 well-child visits within the Duke University Health System before age 1 were grouped as ASD, ADHD, ASD + ADHD, or No Diagnosis using retrospective billing codes. An additional comparison group was defined by later upper respiratory infection diagnosis. Adjusted odds ratios (AOR) for hospital admissions, procedures, emergency department (ED) visits, and outpatient clinic encounters before age 1 were compared between groups via logistic regression models. Length of hospital encounters were compared between groups via Mann-Whitney U test. In total, 29,929 patients met study criteria (ASD N = 343; ADHD N = 1175; ASD + ADHD N = 140). ASD was associated with increased procedures (AOR = 1.5, p < 0.001), including intubation and ventilation (AOR = 2.4, p < 0.001); and outpatient specialty care, including physical therapy (AOR = 3.5, p < 0.001) and ophthalmology (AOR = 3.1, p < 0.001). ADHD was associated with increased procedures (AOR = 1.41, p < 0.001), including blood transfusion (AOR = 4.7, p < 0.001); hospital admission (AOR = 1.60, p < 0.001); and ED visits (AOR = 1.58, p < 0.001). Median length of stay was increased after birth in ASD (+ 6.5 h, p < 0.001) and ADHD (+ 3.8 h, p < 0.001), and after non-birth admission in ADHD (+ 1.1 d, p < 0.001) and ASD + ADHD (+ 2.4 d, p = 0.003). Each condition was associated with increased health system utilization and distinctive patterns of utilization before age 1. Recognizing these patterns may contribute to earlier detection and intervention.

Dataset Information

Parents' initial concerns about the development of their children later diagnosed with fragile X syndrome.

Publications

Parents' initial concerns about the development of their children later diagnosed with fragile X syndrome.

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