Dr. John Langdon, M.D. was the first one to explain Down’s syndrome. It is a hereditary condition that causes learning impairments, developmental delays, and irreversible mental retardation in children. Its severity might range from mild to severe. According to estimates, one in 700 to 800 newborns are affected by Down’s syndrome.
Features
The common features that are present in the majority of children with Down’s syndrome can be used to identify this condition. The Down syndrome child has a tiny head, flattened facial features, and a tongue that protrudes out. The ears are unusually shaped, and the eyes slant upwards. The palms have a single crease line and the hands are short and wide. The fingers are smaller than normal. There is too much flexibility and a weak muscular tone. Growth is slower than a normal child, and there is a mental retardation.
Diagnosis
From the 11th to the 13th week of pregnancy, screening is carried out, consisting of blood and nuchal screening tests. During a nuchal translucency, an ultrasound is used to examine an area at the back of the baby’s neck to determine if there are anomalies in the second trimester of pregnancy.
Amniocentesis is a procedure where a sample of amniotic fluid is collected using a needle placed into the mother’s uterus. The foetal chromosomes are examined by this fluid. The chorionic villus sample can be carried out between weeks 9 and 14 of pregnancy. In this process, cells from the mother’s placenta are examined to look for any foetal chromosomal abnormalities. Percutaneous umbilical blood sampling is a procedure in which blood is collected from the umbilical cord vein and tested for any chromosomal abnormalities.
Health problems and complications
The Down’s syndrome baby suffers from various health problems. Heart defects are found in almost 50% of Down’s syndrome baby, and can be life threatening. The risk of developing leukemia is more than that in normal children. Due to their weakened immune systems, children with Down syndrome are more prone to develop infections like pneumonia. The other problems that can develop are obesity, sleep apnea, thyroid problems, hearing loss, poor vision, skeletal problems, gastrointestinal blockage, dementia, and mental retardation.
Caring for a baby with Down’s syndrome
Although feeding a baby with Down’s syndrome may be challenging, it is not impossible. The mother must seek guidance from the doctor, therapist, nurse, or other moms who have breastfed children with Down syndrome.
Every state offers Down’s syndrome children unique intervention programmes whereby specialised therapists instruct the child on how to enhance his or her motor skills, social skills, language, and self-help abilities. To improve coordination and muscle tone, physical therapy is recommended every week. Speech therapy is given to improve speech while occupational therapy takes care of social skills, hand eye coordination and language skills. Paediatric cardiologists (who deal with heart defects), paediatric endocrinologists (who deal with endocrine gland issues like thyroid problems), paediatric gastroenterologists (who deal with stomach and intestinal problems), developmental paediatricians (who check for developmental delays), physical therapists (who help with muscle coordination), audiologists (who deal with hearing problems), and occupational therapists (who deal with developing social skills), and speech pathologist (who helps in improving speech), will make up a team that assists with the therapy. With proper guidance and therapy, children with Down syndrome can grow up and can live as independent individuals who can work.
Surgery could be indicated to treat heart defects. Surgery is performed for babies who have swallowing problems and intestinal obstructions, and the baby can recover completely. Corrective surgery could be necessary for eye problems including hazy or crossed eyes. The paediatric dentist has to be consulted regarding teething delays. Some children with Down syndrome might have leukaemia or other types of cancer. Children with Down syndrome are also more vulnerable to lung infections, which can make breathing difficult. These children may have constipation as a result of digestive issues. Growth, development, speaking, and walking abilities will all be delayed. To properly detect and treat the numerous health concerns, routine health examinations are required.
Coping and support
It is natural for parents to feel dread and despair. Such parents need to consult their primary care physician and join a support group where they may connect with other parents in a similar situation and receive guidance and support. You may reach out to them for further details.
Beating the odds
Karren Gaffney, 23 years old, is the first person with Down’s syndrome to swim across the English Channel. She not only had trisomy 21 but also a dislocated hip and a weakened left leg. She was able to accomplish her objectives despite her limitations. She completed the 9-mile Lake Tahoe swim in 6 hours and 15 minutes. She presently serves as the creator and director of the Karren Gaffney Foundation, which advocates for the inclusion of children with Down syndrome in classrooms, communities, workplaces, and families. She also holds a credential as a teacher’s aide.