Though rare, Angelman syndrome brings many insights into what can be deeply complex about genetic disorder conditions and profound effects on individuals and families. Originally described in 1965 by Dr. Harry Angelman, the condition would soon become one of the prominent areas of interest in medical science, advocacy, and awareness.

Actor Colin Farrell has made significant efforts advocating for awareness around Angelman syndrome. His son, James, was diagnosed with the condition at 2.5 years old, having been initially misdiagnosed with cerebral palsy. Farrell's advocacy draws attention to the problems parents have to face while navigating misdiagnoses and limited resources. He has since started initiatives to support families, especially because many state-level services end once the individuals with disabilities turn 21.

Below, we discuss the causes, symptoms, treatments, and the lives of individuals and caregivers living with Angelman syndrome.

What is Angelman Syndrome?

Angelman syndrome (AS) is a neurogenetic disorder affecting around 1 in 12,000 to 1 in 24,000 individuals. Due to its similarity with other developmental disorders, including autism and cerebral palsy, this condition is not easily diagnosed. The syndrome impacts both males and females equally, but they experience various delays in their development, seizure episodes, and typical behaviors that are accompanied by constant laughter and happiness.

What causes Angelman Syndrome?

Angelman syndrome results from mutations in the UBE3A gene on chromosome 15. This gene is crucial for brain development because it encodes a protein necessary for neuronal function. Normally, one copy of the UBE3A gene from each parent is active throughout the body. However, in some parts of the brain, only the maternal copy is active.

When the maternal copy is missing, mutated, or otherwise inactive, Angelman syndrome occurs. The majority of cases result from spontaneous mutations, but about 3-5% are inherited. Interestingly, in approximately 10% of cases, the exact cause cannot be pinpointed.

Early Signs and Symptoms

Major symptoms or manifestations of Angelman syndrome start manifesting in the lives of parents when the child is between 6-12 months old. These early developmental delays, such as the child's failure to sit up or babble, would also warrant further investigation. As time progresses, other symptoms start to manifest themselves:

• Walker, has trouble walking, balance, or stiff-legged gaits.
• Little to no speech and heavily depends on non-verbal clues like gestures.
• Frequent laughter, hand flapping, and hyperactivity.
• Often starting between the ages of 2 and 3, seizures are frequent and sometimes lifelong.
• Large mouth, deep-set eyes, prominent chin.

Most children are symptom-free at birth, and delays in diagnosis are common, with children often misdiagnosed as having cerebral palsy or autism.

How is Angelman Syndrome Diagnosed?

The diagnosis of Angelman syndrome is established by a combination of clinical evaluation and genetic studies.

• Chromosome Analysis: It studies the length, form, and number of chromosomes.
• DNA Methylation Testing: It determines whether both copies of the UBE3A gene are active.
• Fluorescent In Situ Hybridization (FISH): It detects missing or abnormal chromosomes.
• UBE3A Sequencing: It identifies mutations in the maternal copy of the gene.

These tests confirm the condition, bringing clarity and a path forward for treatment and management.

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Living with Angelman Syndrome

There is no cure for Angelman syndrome, but early interventions improve and enhance the quality of life for patients. Treatments are merely aimed at symptom management and developmental support. This includes the use of:

Anti-epileptic medications to control seizures

Therapy improves mobility as well as reduces joint stiffness

Speech and Occupational therapy improves communication skills and daily living function

Behavioral Therapy manages hyperactivity and attention deficit.

Despite the challenges, many individuals with Angelman syndrome lead fulfilling lives. With proper support, adults can learn basic household tasks and, in some cases, secure supervised employment. Group homes provide a nurturing environment for adults who cannot live independently, emphasizing a sense of community and belonging.

What are the Risk Factors and Complications

There are no risk factors established except the possible presence of a family history for Angelman syndrome, a very rare genetic disorder. Such children often develop various complications requiring management. Common issues include feeding, especially at the infancy level. This might include sucking and swallowing problems leading to the requirement of specialized feeding methods. Sleep disturbances, including frequent waking and decreased need for sleep, can be a significant challenge in daily life and may be treated with behavior therapy or medication. Hyperactivity is also a common problem in younger children with Angelman syndrome, although it often decreases with age, making it easier to adapt over time.

Research into Angelman syndrome is ongoing, with studies on gene therapy and other potential treatments. Advocacy efforts, combined with early diagnosis and intervention, bring hope to families around the world.

Understanding Angelman syndrome is a step toward better care, inclusivity, and support for those affected. With increased awareness and advancements in treatment, individuals with Angelman syndrome can thrive in environments tailored to their unique needs.

Your eyes could be giving you clues that your kidneys aren’t working the way they should. While most people associate kidney trouble with tiredness, swelling, or changes in urination, the effects can also show up in your vision. To understand this better, we spoke with Dr Manoj K. Singhal, Principal Director of Nephrology and Kidney Transplantation at Max Super Speciality Hospital, Vaishali.

5 Eye Symptoms Linked to Kidney Issues

The kidneys filter toxins and help maintain balance in the body. But when they start to weaken, some of the earliest signs may appear in unexpected places, like your eyes. Some of these symptoms, as per Dr Manoj are:

1. Persistent Puffiness

It’s normal to wake up with puffy eyes, but if the swelling doesn’t fade even after rest, it could point to protein leaking into your urine, a condition called proteinuria, which often signals kidney damage.

2. Blurred or Double Vision

Sudden blurriness may be tied to high blood pressure or diabetes—two major causes of kidney problems. These conditions damage small blood vessels in the eyes and can even lead to sudden vision loss.

3. Dry, Itchy Eyes

Many people with chronic kidney disease, especially those on dialysis, experience dryness or irritation in the eyes. This happens when mineral balance in the body is disrupted, leaving the eyes feeling gritty or uncomfortable.

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4. Red or Bloodshot Eyes

Frequent redness can be a warning sign of uncontrolled blood pressure or diabetes. In some rare cases, kidney-related conditions like lupus nephritis can also cause eye problems.

5. Difficulty Seeing Colours

Kidney disease can sometimes affect the optic nerve or retina, making it harder to distinguish certain colours, especially shades of blue and yellow.

When To Seek Help?

Not every eye problem points to kidney disease, but if these symptoms persist or worsen, it’s worth getting both your vision and kidney health checked. Routine eye exams can sometimes reveal early warning signs before bigger problems develop.

If you notice changes in your eyesight alongside other symptoms like fatigue, swelling, or urinary changes, don’t ignore them. Catching kidney issues early can make all the difference for both your eye health and your overall well-being.

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How To Protect Your Kidneys and Eyes

While some kidney issues are unavoidable, there are steps you can take to reduce your risk and protect both your kidney and eye health, as suggested by Dr Manoj:

• Maintain a Healthy Blood Pressure and Blood Sugar: High blood pressure and diabetes are major risk factors for kidney disease. Regular monitoring and a balanced diet can help keep these in check.
• Stay Hydrated: Drinking enough water supports kidney function and helps flush out toxins.
• Eat a Balanced Diet: Focus on fruits, vegetables, whole grains, and lean proteins while limiting salt, processed foods, and excess sugar.
• Exercise Regularly: Physical activity improves circulation and helps maintain healthy blood pressure, supporting both kidney and eye health.
• Avoid Smoking and Excess Alcohol: Both can damage blood vessels, increasing the risk of kidney and eye problems.
• Schedule Regular Checkups: Routine blood tests, urine tests, and eye exams can help catch early signs of kidney issues before they worsen.

Taking care of your overall health is the best way to safeguard your kidneys. and your eyes from long-term damage.

Suicides are one of the leading causes of death around the world. While it is easy to say that the person who chose to take their lives did it of their own violation, Harvard psychologist Dr. Matthew Nock, explains the other side. “90% of people who try and kill themselves say, I didn't want to die per se. I wanted to escape from seemingly intolerable.” Speaking on the On Purpose podcast with Jay Shetty, Dr. Nock pointed out that the link between work pressure and suicidal thoughts varies by race and ethnicity.

The concerning rise in suicide cases tied to work pressure has fueled a social media conversation about toxic work culture. What was once considered a normal part of the professional grind is now being openly challenged, as people share personal stories of the anxiety, depression, and isolation caused by unhealthy work environments.

What Professions Are At High Risk Of Suicide?

According to Dr. Matthew Nock, certain careers are linked to a higher risk of suicide.

Police Officers

He noted that physicians and police officers are among those at high risk. He mentioned a spike in suicides among New York City police officers, who are predominantly white men, and shared that female police officers, in particular, face a higher risk, even when accounting for factors like age, race, and ethnicity.

According to a 2025 study published in the Police Practice and Research, on average, 21.4 out of every 100,000 officers died by suicide each year.

The study showed that the suicide rate was much higher for male officers (22.7 per 100,000) than for female officers (12.7 per 100,000).

Physicians

Dr. Nock explained that access to means is a significant factor in these high-risk professions, which helps explain why physicians, police officers, and military members have a much higher risk of suicide compared to others.

Another study published in 2024 The BMJ, showed that the number of suicides among doctors has been going down, female doctors are still at a much higher risk than other people.

When looking at all the data, male doctors were found to have a 5% higher risk of suicide compared to the general population.

In a more recent analysis of the last few years, the overall suicide rate for doctors has decreased, which is good news. But even with this improvement, female doctors still have a 24% higher risk than the general public.

Why We Need To Talk More About Suicide

Dr. Nock stresses the importance of openly discussing suicide, particularly in schools. He compared it to fire drills or earthquake preparedness, saying that since 15% of people will experience suicidal thoughts, it's crucial to equip everyone with a safety plan..Dr. Matthew Nock said, "We know that asking about suicide, talking about suicide, does not make people suicidal."

He noted that the people who act on suicidal thoughts often show different signs than those who just have the thoughts. While depression is a strong predictor of having suicidal thoughts, other factors like anxiety, aggressiveness, poor behavioral control, and drug or alcohol use are more closely linked to a person actually attempting suicide.

He believes that a small educational module on suicide in health class could help save lives by teaching people what to do if they or someone they know is struggling.

While we all know air pollution affects our health, did you know that it was actually driving cancer cases higher? This has led to a big rise in health problems worldwide. Past studies show that air pollution is linked to about seven million premature deaths each year and contributes to over 3% of all years of healthy life lost globally. This revelation was a big concern for public health, and to fix it, many measures were taken.

While some countries like the US showed promising results in bettering public health, a recent study in the International Journal of Public Health showed that this positive trend is not yet showed up in China.

How Is PM2 Pollution Affecting Our Health?

One of the most dangerous types of air pollution is called fine particulate matter, or PM2.5. These tiny particles come from car exhaust, factory smoke, and even from the smoke created by burning solid fuels inside homes. Because they are so incredibly small, they can stay suspended in the air for a long time and, when we breathe them in, they go deep into our lungs.

Once inside the body, PM2.5 can cause inflammation and even change our genes, which increases our risk for many illnesses, especially tracheal, bronchial, and lung (TBL) cancers. A new study looked at how much PM2.5 pollution has affected TBL cancer rates in China, Japan, South Korea, and the United States from 1990 to 2021.

Has Pollution-Related Health Risk Decreased Everywhere?

The study, which used data from the Global Burden of Disease (GBD) project, found some important trends:

Overall Cancer Rates Are Declining

The good news is that globally, the number of deaths and years of healthy life lost due to TBL cancer linked to PM2.5 pollution are going down. This positive trend was consistent in all the countries studied: China, Japan, South Korea, and the U.S.

China's Unique Challenge

Despite this global trend, China faced a much higher death rate from TBL cancer linked to PM2.5 compared to the other three countries. While their rates are decreasing, they still remain significantly higher than the worldwide average.

Household Pollution Hits Women Harder

The research also looked at pollution from burning solid fuels inside homes. The global death rate from TBL cancer linked to this type of pollution has remained stable, but it's actually increasing for women while it's decreasing for men. This highlights a specific danger for women in homes that rely on these fuels.

Will This Pollution Cancer Trend Keep Rising?

Looking ahead, researchers predict that the global death rate for TBL cancer caused by PM2.5 will actually increase over the next 29 years. However, the study notes that countries like China, South Korea, and the U.S. are expected to see a significant drop in their rates, while Japan's numbers are expected to stay about the same.

Overall, this study shows that while air pollution is a serious global health risk, the efforts to reduce PM2.5 exposure in many countries are making a real, positive difference.