Trisomy 21 patient

Patient's question:

Gender: Male
Age: 2 years
Can Down syndrome be cured?

Doctor's answer:

Basically, there is no corresponding treatment method. However, it is not incurable. Early nurturing and care can help the patient's development. Through early intervention, they can learn, live, and work just like normal people.
The seven major characteristics of Down syndrome are as follows:
(1) Intellectual disability: It is mild to moderate, with most cases being moderate intellectual disability. The intellectual ability gradually declines with age. From the age of 1 to 10, the average IQ (intelligence quotient) drops from 58 to below 40. Some experts believe that IQ remains relatively stable during adolescence and only declines later. Most studies show that environmental factors are significant influences on IQ. Patients raised in a good environment tend to have a relatively higher IQ. The degree of intellectual disability can vary among different types of patients. Generally, trisomy is the most severe, followed by translocation. Among translocations, balanced translocations have a lesser impact on intelligence. Due to the children's quiet and gentle nature, they provide good conditions for special education training. Although they may struggle to reach the level of first or second-grade cultural skills, their adaptability can improve significantly, allowing them to achieve some degree of self-care and labor ability.
(2) Language development disorder: The average age at which children with Down syndrome begin to speak is 4-6 years old. 95% have speech defects, such as unclear pronunciation, stuttering, and a low, hoarse voice. More than one-third exhibit abnormal speech rhythm, even explosive sounds.
(3) Behavioral disorders: Most patients have a gentle temperament, often smiling foolishly, and enjoy imitating and repeating simple actions. They can perform simple labor tasks. However, some patients may be easily irritable, stubborn, hyperactive, or even exhibit destructive and aggressive behavior. Others may show withdrawal tendencies, accompanied by a tense posture.
(4) Motor development delay: In the early stages of life, the motor functions of children with Down syndrome may not differ much from those of their peers. However, as they grow older, the differences become more pronounced. The motor development of individual patients also varies greatly. Children with Down syndrome can perform simple movements, such as dressing and eating, but their actions are clumsy and uncoordinated, and their gait is unstable.
(5) Growth and development disorders: Children with Down syndrome have a shorter gestation period, averaging 262-272 days. At birth, they are shorter by 1-3 cm compared to normal newborns, with head circumference generally normal. The biparietal diameter falls within the normal range, but the anteroposterior diameter is relatively shorter, and the occiput is flat. Most patients have brachycephaly (a short head shape). The anterior fontanelle and sagittal suture are wide, with delayed closure, and a third fontanelle (an additional suture above the posterior fontanelle) may appear. In the early days after birth, these children sleep deeply, and their sucking and swallowing are very slow, or even completely absent, making waking and feeding difficult. 80% of patients have low muscle tone.
(6) Special physical features: Wide-set eyes, slanted outer corners of the eyes, epicanthal folds, low-set ears, a low nasal bridge, thick and broad tongues, often with the mouth half-open or the tongue sticking out. The tongue surface has deep and numerous grooves and fissures. The palms are thick, and the fingers are short and, with the distal phalanx often inwardly curved or having two joints. 40% of patients have transverse palmar creases. The palmar creases show a convexity on the tibial side of the thumb ball area, and the interdigital space between the thumb and the second toe is large. Joint ligaments are or exhibit low muscle tone.