Objective To evaluate the family psychosocial outcomes of children with Down syndrome and atrioventricular septal defect, and examine the impact of these variables on the child’s neurodevelopmental outcome. Methods This was a cross-sectional study that consisted of 57 children with Down syndrome (20 cases and 37 controls), approximately 12–14 months of age. In both groups, we assessed the development of the child, the quality of the child’s home environment, and parenting stress. Results Compared with the Down syndrome without congenital heart defect group, the atrioventricular septal defect group revealed lower scores in all developmental domains, less optimal home environments, and higher parental stress. Significant differences in development were seen in the areas of cognition (p=0.04), expressive language (p=0.05), and gross motor (p<0.01). The Home Observation for Measurement of the Environment revealed significant differences in emotional and verbal responsiveness of the mother between the two groups. The Parenting Stress Index revealed the Down syndrome with atrioventricular septal defect group had a significantly higher child demandingness subdomain scores compared to the Down syndrome without congenital heart defect group. Conclusions The diagnosis of a congenital heart defect in addition to the diagnosis of Down syndrome may provide additional stress to the child and parents, elevating parental concern and disrupting family dynamics, resulting in further neurodevelopmental deficits. Finding that parental stress and home environment may play a role in the neurodevelopmental outcomes may prompt new family-directed interventions and anticipatory guidance for the families of children with Down syndrome who have a congenital heart defect.
Down syndrome is the most common identifiable genetic cause of intellectual disability, with a unique physical gestalt that makes diagnosis possible during the newborn period. However, the physical characteristics of Fragile X syndrome are fairly subtle, resulting in the first clinical suspicion often arising from delayed developmental milestones. In addition, maladaptive behavior and autistic-like tendencies, such as hand flapping, poor eye contact, and hand biting, may be noted in Fragile X syndrome but are not as commonly observed in Down syndrome. Recognition of a potential secondary diagnosis, such as Fragile X syndrome, in individuals with Down syndrome is critical because there have been advances in targeted pharmacologic treatments for both conditions. Thus, an accurate diagnosis has implications in improving the individual's quality of life.
Nearly all children with Down syndrome (DS) are born with hypotonia which later improves with age. We present a case of a 32-month-old female with DS who has persistent hypotonia and ligamentous hyperlaxity. She was subsequently diagnosed with Ehlers-Danlos Syndrome-Hypermobility type (EDS-HMT) based on family history, which resulted in the significant global developmental delay compared to age-matched peers with DS. Further clinical investigation is recommended in individuals with DS who appear to have developmental profiles significantly below what would be expected due to typical Trisomy 21 so that additional diagnostic testing and appropriate interventional therapy may be provided. Specifically, timely diagnosis of inherited disorders such as EDS-HMT is important in identifying other family members with the condition.
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