HYDERABAD: According to the Global Down Syndrome Foundation, there are approximately 6 million individuals affected by Down Syndrome worldwide. Although there is no cure, with proper supportive care, children with this condition can lead long and fulfilling lives. As March 21 is recognised as World Down Syndrome Day, we consulted experts to gain insight into the challenges they encounter and more.
Down syndrome stems from a genetic disorder resulting from abnormal cell division, leading to an additional full or partial copy of chromosome 21. This extra genetic material brings about the developmental changes and physical characteristics associated with Down syndrome.
Dr M Rajini, Senior Consultant Gynaecologist at CARE Hospitals, underscores, “Down Syndrome manifests with varying severity among individuals, causing lifelong intellectual disability and developmental delays. It stands as the most common genetic chromosomal disorder and a primary cause of learning disabilities in children. Additionally, it often presents with other medical abnormalities, including heart and gastrointestinal disorders.”
Regarding diagnosis, Dr Rajini explains that screening tests can indicate the likelihood of a mother carrying a baby with Down Syndrome. However, these tests cannot definitively confirm the condition.
Down Syndrome may give rise to a spectrum of behavioural and emotional challenges, encompassing attention deficits, social withdrawal, noncompliance, compulsions, anxiety, depression, stubbornness, impulsivity, and temper tantrums.
Dr A Hari Krishna, Consultant Children and Newborn Specialist at Renova Hospitals, adds, “Children with Down Syndrome may experience delays in motor skills and speech, requiring assistance with activities of daily living such as dressing and grooming. Some may encounter respiratory issues due to narrow nasal passages, increasing susceptibility to respiratory infections. Upper airway obstruction can disrupt sleep patterns, leading to fatigue, stress, and behavioural disturbances. Sleep apnea may necessitate intervention such as the removal of tonsils and adenoids. While some individuals may require extensive medical attention, others lead relatively healthy lives.”
He highlights common health challenges in children with Down Syndrome, including recurrent infections, congenital heart defects, hearing impairment, vision problems, oral motor difficulties, hypotonia, sleep disturbances, gastrointestinal issues, epilepsy, and childhood cancer.
Treatment involves comprehensive multidisciplinary care. “For children with Down Syndrome, a team of specialists is typically enlisted to provide medical care and facilitate skill development. Depending on the individual’s needs, this team may comprise professionals such as a primary care pediatrician, pediatric cardiologist, gastroenterologist, endocrinologist, developmental pediatrician, neurologist, ENT specialist, ophthalmologist, audiologist, speech pathologist, physical therapist, and occupational therapist,” notes Dr M Rajini.
Furthermore, Dr Rajini advises, “Parents must navigate important decisions concerning their child’s treatment and education. Establishing a trustworthy team of healthcare providers, educators, and therapists is essential. These professionals can assist in evaluating available resources and elucidating state and federal programs catering to individuals with disabilities.”