Influence of CHDs on psycho-social and neurodevelopmental outcomes in children with Down syndrome.

Objective: To evaluate the family psycho-social 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 - of ~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.

Implications of delayed diagnosis of infantile spasm in a child with Down syndrome.

Trisomy 21, leading to Down syndrome (DS) is the most common genetic cause of intellectual disability. Approximately 1-13% of children with DS have co-morbid seizures, with infantile spasm being the most frequent type of seizure identified. Although the clinical and electroencephalography findings of infantile spasm are similar between children with DS and typically developing children, there is often a delay in the diagnosis of these seizures in children with DS.

Contribution of Family History in Co-occurring Down Syndrome and Ehlers-Danlos Syndrome.

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.

A male with cooccurrence of down syndrome and fragile x syndrome.

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.