Concerns About My Nephew's Health: Signs of Rare Disorders

My nephew was suspected of having Down syndrome?

Dear Dr.
Lin,
Hello, my nephew is nine months old.
He was previously seen at your clinic (Taipei Mackay Memorial Hospital) and there were concerns about the possibility of Down syndrome.
However, I am unsure of the results.
Recently, my nephew has been exhibiting some concerning symptoms, but his caregivers seem to be ignoring them:
1.
Sleep disturbances: He is unable to sleep soundly and sleeps less than 8 hours a day, with no daytime naps.
If he does nap, it lasts less than 10 minutes before he wakes up.
2.
I feel like he doesn't have a sense of fullness; he can eat 1-2 bowls (adult-sized) of rice in one meal, along with meat puree or fruit.
Additionally, he is constantly being fed between meals, resulting in a bloated stomach, yet he eagerly accepts food.
3.
Despite his good appetite, he is not gaining weight and is becoming thinner, with little height increase.
4.
Although he struggles to sleep, he always appears fatigued.
While I find my nephew's behavior unusual and he seems to be getting more emaciated, as his aunt, I feel I lack the authority to voice too many concerns.
I am unsure if I am being overly anxious or if there is indeed a problem.
I am genuinely worried that he may be overfed, which could affect his gastrointestinal health!
I hope Dr.
Lin can provide some advice based on the information I have shared.
Thank you very much.

Yuan Yuan, 30~39 year old female. Ask Date: 2006/12/26

Dr. Lin Xuanpei reply Rare Disease

It is uncertain whether the mentioned "Tang baby" refers to Down syndrome.
If so, a chromosomal test can confirm the diagnosis.
For the described infant's condition, if there are no urgent respiratory or sleep-related issues, it is recommended to utilize preventive vaccinations or follow the health check schedule indicated in the child health handbook.
Parents should take the baby to a pediatric specialist for a detailed evaluation.
If any abnormalities are found, the physician can refer the patient to pediatric gastroenterology, pediatric endocrinology, or pediatric genetics for further consultation and necessary testing.
Mackay Memorial Hospital, Pediatric Genetics Department, Dr.
Lin Hsuan-Pei.

Reply Date: 2006/12/26

More Info

Dear Concerned Aunt,
Thank you for reaching out regarding your nephew's health concerns. It’s understandable to feel anxious when observing potential signs of health issues in a young child, especially when those signs seem to be overlooked by caregivers. Based on the symptoms you've described, let's break down each one and discuss possible underlying issues, as well as recommendations for further action.

1. Sleep Disturbances: Sleep is crucial for a child's development, and the fact that your nephew is not getting adequate sleep (less than 8 hours a day) is concerning. Infants and toddlers typically require more sleep, often between 12 to 16 hours in a 24-hour period, including naps. Persistent sleep disturbances can be indicative of various issues, including sleep disorders such as insomnia, sleep apnea, or even gastrointestinal discomfort that might be causing him to wake frequently. It would be beneficial for caregivers to consult a pediatrician or a sleep specialist to evaluate his sleep patterns and determine if there are any underlying conditions affecting his sleep.

2. Increased Appetite with Poor Weight Gain: The observation that your nephew can consume large quantities of food yet is not gaining weight or growing appropriately is concerning. This could suggest several possibilities, including metabolic disorders, malabsorption issues, or even psychological factors affecting his eating habits. Conditions such as Prader-Willi syndrome, which is characterized by an insatiable appetite and poor growth, could be considered, especially given the context of previous concerns about Down syndrome (唐寶寶). A pediatrician should assess his growth parameters (weight, height, and head circumference) and possibly conduct tests to evaluate his nutritional absorption and metabolic function.

3. Fatigue Despite Lack of Sleep: The combination of poor sleep and a tired appearance can be indicative of several health issues. Chronic fatigue in infants can be a sign of underlying medical conditions, including anemia, thyroid dysfunction, or chronic infections. It’s essential to have a thorough evaluation by a healthcare professional to rule out these possibilities.

4. Concerns About Overfeeding: While it’s common for caregivers to want to ensure a child is well-fed, overfeeding can lead to gastrointestinal discomfort and other health issues. If your nephew is frequently fed and appears to have a distended abdomen, it could indicate that he is not processing the food properly. This could be due to a variety of reasons, including food intolerances or allergies. A pediatric gastroenterologist might provide insights into whether his feeding patterns are appropriate and if any dietary adjustments are necessary.

Given these concerns, I strongly recommend that you encourage the caregivers to seek a comprehensive evaluation from a pediatrician. It may also be helpful to document your nephew's eating and sleeping patterns, as well as any other symptoms you observe, to provide the doctor with a clearer picture of his health. If the caregivers are resistant to seeking help, you might consider expressing your concerns directly and emphasizing the importance of addressing these issues for your nephew's well-being.

In conclusion, while it’s natural to feel uncertain about whether your concerns are justified, advocating for your nephew’s health is crucial. Early intervention can make a significant difference in addressing potential health issues, and your observations are valuable in guiding the caregivers toward appropriate medical attention. Thank you for being a caring and proactive aunt, and I hope your nephew receives the care he needs soon.

Best wishes,
Doctor Q&A Teams

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