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Is a chubby baby cute or a hidden danger? Beware of rare genetic diseases

The international news about two children recently drew attention - one is a newborn in Brazil weighing 7.3 kilograms, two to three times the weight of an average baby, and the other is a 16-month-old boy in Indonesia weighing over 27 kilograms, three times the weight of a same-age infant. Some people suspect these two babies have diabetes. Regarding this, Dr. Chen Si-ying, a pediatrician at Lee Women's Hospital, said that pregnant women with diabetes may give birth to larger babies due to their abnormal insulin secretion. This means they will all be larger than ordinary babies when they are born. However, regardless of whether the pregnant woman has type 1 or type 2 diabetes, the baby needs to be observed for a long time. Its growth curve needs to be continuously monitored from birth to determine whether the child also has diabetes. In addition, Dr. Li Yueh-jun, the director of the Genetics Laboratory at Lee Women's Hospital, pointed out that a small number of obese babies may be caused by genetic diseases such as "Prader-Willi Syndrome" and "Macrosomia". If abnormalities are found in the baby, it should be taken to the hospital for testing and treatment as soon as possible. This is to avoid delaying the golden treatment period.

The first step in observing a baby's health: The importance of growth charts.

The growth chart includes three indicators: gender, height, and weight. According to the Health Promotion Administration regulations, hospitals also measure a baby's growth curve when receiving vaccinations. They will mark the percentile on the baby's health record. If the curve falls within the range, it indicates that the baby is healthy with no significant problems. For example, if a male baby's growth curve falls within the 97th percentile, his weight is approximately 12.5 kilograms. Dr. Chen Si-ying once encountered a one-year-old male baby whose growth curve exceeded the 99th percentile, indicating obesity. Fortunately, he also grew taller simultaneously. After Dr. Chen suggested that the parents adjust the baby's diet, the baby did not gain weight.

Obesity is a warning sign of diabetes and high blood pressure.

However, as reported, an Indonesian male baby 16 months old weighs 27 kilograms, and his growth curve exceeds the percentile range. Dr. Chen suggests examining the baby's diet or whether the parents constantly overfeed him. Regardless, this is a warning sign of health issues. Parents are advised to take the baby to the hospital for examination and treatment. If left untreated, diabetes, metabolic syndrome, and high blood pressure may occur. In addition, an overweight body shape can also affect physical development. For example, sitting or crawling for long periods of time can lead to difficulty walking, knee problems, and difficulty bearing weight.

Some overweight babies may be caused by genetic disorders

Dr. Li Yue-jun, Director of the Genetic Laboratory, pointed out that some overweight babies may have

Dr. Li Yue-jun, Director of the Genetic Laboratory, pointed out that some overweight babies may have "Prader-Willi Syndrome (PWS)" and "Beckwith-Wiedemann Syndrome (BWS)".

Prader-Willi Syndrome (PWS)

Dr. Li also mentioned that babies with PWS, due to a defect in the brain's satiety center, tend to overeat and become obese after two years old. If not treated and controlled, they may develop metabolic diseases such as diabetes. These children have clinical features such as small hands and feet, almond-shaped eyes, pale skin (lack of pigmentation), and delayed development. The cause of PWS may be a defect in the long arm of chromosome 15 from the father (position 15q11-13), abnormal gene imprinting (abnormal methylation), or uniparental disomy (UPD). The current prevalence rate is about 1 in 10,000 to 30,000.

Beckwith-Wiedemann Syndrome (BWS)

BWS is a genetic disorder that causes excessive fetal growth. At birth, their body size is far beyond average, hence the nickname "giant baby syndrome". Children with BWS may have a taller height, a large tongue, and hypoglycemia. Other symptoms include ear creases or pits, enlarged organs, and abdominal wall defects. In some children with BWS, certain body parts (such as ears) may be abnormally enlarged, leading to an asymmetry or uneven appearance. This unusual growth, known as hemihyperplasia, usually slows down around 8 years old. Children with BWS have an increased risk of childhood cancers, most commonly Wilms tumor (kidney tumor) and hepatoblastoma (liver tumor). BWS is associated with abnormalities on chromosome 11, and about 15% of cases are inherited from parents. The other 85% of cases occur spontaneously (some are related to abnormal gene imprinting). People with BWS have a 50% chance of passing the abnormal gene on to their children. The current prevalence rate is about 1 in 10,000 to 13,000.

Smoking and processed foods can cause rare diseases in your children even if you have healthy genes.

Dr. Li Yue-Jun, director of the Genetic Laboratory at Mau-Shan Hospital, pointed out that one of the pathological mechanisms of two genetic diseases, "Prader-Willi Syndrome" and "Gigantism", is related to abnormal gene imprinting. Normal gene imprinting takes place during sperm and egg maturation and the embryonic development process. Gene imprinting is mainly the methylation of genes, closely related to diet and environment. Men and women who are preparing for pregnancy or pregnant women who frequently eat foods containing nitrites, pickled or processed foods, or who frequently smoke (both first- and second-hand smoking have the same damaging effect) can cause abnormal methylation, affecting the gene expression of sperm, eggs or fetuses and their subsequent development. Therefore, in addition to providing healthy genes, parents' environment and diet have a significant correlation with conceiving a healthy baby.

Supplementing with "active folic acid" in moderation helps prevent the onset of allergic, asthmatic, or autistic children.

Moderate folic acid intake helps with fetal brain and nervous system development but also normal methylation. Supplementing requires special care. According to research, some people have defective folic acid metabolism enzymes, leading to unmetabolized folic acid. This is related to producing allergic, asthmatic or autistic children. It is recommended to supplement with "active folic acid" without worrying about accumulation problems.

Childhood obesity isn't just about your weight? Detection and treatment can be delayed.

Dr. Chen and Dr. Li remind parents not to think extreme obesity in infants and young children is cute. Instead, they hold onto the old belief that "being chubby as a child is not just chubby!" and lower their vigilance. Parents should observe the child's growth curve and whether various aspects of their body are developing normally over time. Are there any clinical symptoms? If abnormalities are found, they should be taken to the hospital for testing and treatment as soon as possible. This is to avoid delaying the golden treatment period.
Note 1: Gene imprinting is a type of epigenetic modification that affects gene expression. According to Wikipedia, it refers to the phenomenon in genetics where only the gene from a specific parent is expressed, not following Mendelian laws of inheritance.
Note 2: Methylation is a modification of the DNA base C that affects gene expression. It can have mild effects on development or lead to hereditary diseases in severe cases.
Note 3: Uniparental disomy (UPD) is a condition where both chromosomes of a pair are inherited from one parent instead of one from each parent. Normally, humans have 23 pairs of chromosomes, with one from each parent. UPD can lead to the occurrence of recessive diseases.
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