Kowal K, Domaradzki J. "To have children or not?" Between desire, responsibility, luck, and guilt: reproductive decision-making in individuals with neurofibromatosis type 1. Orphanet J Rare Dis. 2025 Oct 21;20(1):531. doi: 10.1186/s13023-025-04061-z. PMID: 41121384; PMCID: PMC12542219.
Abstract
Background
Neurofibromatosis type 1 (NF1) is a rare autosomal dominant disorder with a 50% chance of being passed to offspring. Its hereditary nature presents individuals with complex reproductive dilemmas. This study explores the complexity of decision-making and reproductive choices faced by people with NF1 regarding parenthood.
Results
Genetic risk is a key factor shaping reproductive decisions. For some individuals, the decision not to have children is seen as a protective and morally responsible practice, aiming to spare potential offspring from the stigma and isolation they themselves experienced. Some women were also concerned for their own physical and emotional health, especially in relation to pregnancy and caregiving. Medical professionals’ opinions significantly influence choices, sometimes outweighing personal desires for parenthood and shaping perceptions of reproductive responsibility. Parents who were unaware of their diagnosis at the time of conception express guilt and regret. Despite the risks, many still wish to have children but struggle with the fear of passing on the NF1 mutation and potential difficulties in bonding with a child who may also be affected. Individuals who realized procreative plans despite severe NF1 treat parenthood as an important element of their non-disease identity and a source of emotional strength.
Conclusions
For individuals with NF1, reproductive decision-making is a complex dilemma, in which procreation anxiety intersects with hopes for parenthood, a sense of responsibility for the child’s future, and personal identity.
https://www.youtube.com/watch?v=056dMq2upWs
https://www.youtube.com/watch?v=hETXFdKOc6M
https://www.youtube.com/watch?v=toJsm1FL0RU
Wednesday, April 22, 2026
Retinoblastoma
It was September 2025, about a month after her daughter Miley turned 2, when she began noticing brief signs of what looked like a lazy eye. After contacting her pediatrician, she was referred to an ophthalmologist, with an appointment scheduled for December.
Because strabismus — commonly known as a “lazy eye” — affects about 2 to 4 percent of young children, according to the American Association for Pediatric Ophthalmology and Strabismus, there was no immediate concern.
Still, as the weeks passed, something didn't sit right.
Then one night in November, while giving Miley a bath, Kristen noticed something she couldn't brush off.
“I noticed she had a white pupil in the bathtub when she looked at me in the light. It looked like a glow in her eye,” the mom tells PEOPLE exclusively. “I panicked and started googling but was trying not to freak myself out.”
Even then, she tried to keep her fears in check.
But later that night, after Miley had gone to sleep, Kristen kept searching — until she came across a story that changed everything.
“I ended up researching after she went to bed and saw an article of a mom that found out her daughter had a tumor on a baby monitor because her daughter's eye was just black,” she says. “I then looked at the monitor and Miley's eye was black.”
In that moment, everything shifted.
Although her husband tried to reassure her, Kristen couldn't shake the feeling something wasn't right.
The next morning, on Nov. 9, the family drove to the emergency room, where her fears were confirmed. There, her daughter was diagnosed with retinoblastoma.
“It was dreadful. I felt alone," Kristen says. "I didn't know anyone with a child with cancer personally. I didn't know anyone with one eye. It was truly scary and I felt so scared for her future.”
Retinoblastoma is a rare type of eye cancer that typically begins in the retina — the light-sensitive tissue at the back of the eye — and most often affects young children, according to the Mayo Clinic. One of the most common warning signs is a white reflection in the pupil, sometimes noticeable in certain lighting or photos.
Just days earlier, life for Kristen and her family had felt steady and full. The 29-year-old, who lives near Cleveland, Ohio, shares a blended household with her husband — whom she met while they were both serving in the Air Force — along with his 13-year-old daughter, their 2½-year-old Miley and their 7-month-old baby. With a master's degree in social work, she was used to being the one helping others.
Less than two weeks later, the next step was clear. On Nov. 21, Miley underwent surgery to remove her eye.
“Her tumor ended up being grade E. Which typically means that the eye needs removed. They don't believe she had vision for a few months. It was hard to process this because she didn't even act like she had vision from one eye.”
In the days that followed, Kristen found herself looking back — wondering if there had been signs she missed.
But there weren't.
“My family and I are very attentive and we had no idea. it's amazing to me how well she adapted.”
And in many ways, Miley never stopped being Miley.
Now 2½, she still fills their home with energy and personality.
“She is so funny and loves to make us laugh, she loves to dance, she is empathetic and feels everyone's emotions around her. She loves princess dresses, painting her nails, all the girl things. But she also loves dinosaurs and helping her dad work with his tools.”
Still, the journey didn't end with surgery.
After doctors performed a biopsy, they determined the cancer had entered a high-risk area — meaning Miley would need chemotherapy.
“They told us she needs 6 rounds of chemo. She has her last round of chemo next month.”
Since then, their lives have revolved around treatment schedules and hospital stays.
“So far, she has needed 2 days of chemo a month. Three days total at the hospital with the last day being de-accessing her port and giving her a shot that helps raise her white blood cell count to help her fight infection during her treatment.”
But for Kristen, the hardest part has been the emotional toll.
“The most challenging part has been watching her be poked and prodded. Having her ask us to ‘just go home.'”
At home, a new routine brought its own challenges.
“We also have had to take out her prosthetic eye and clean it. Put it back in. This has been a hard adjustment for our whole family.”
And yet, through every step, Miley has led the way.
“Miley has blown us away. She has been so positive. She's been resilient. She has truly lead the way with her positivity. She is the strongest person that I know.”
In the midst of it all, Kristen found herself searching for connection — which ultimately led her to start sharing Miley's journey on TikTok.
“I am someone who really thrives having a community when I am going through something. I wanted to share Miley's story to help others who are facing hard times. I also want to give Miley a sense of purpose. So she can see that her hardship has helped others. I also wanted to give Miley a sense of community.”
What started as a way to cope quickly turned into something much bigger.
“Since posting Miley's journey, I have met SO many amazing men and women; girls and boys; with one eye. Miley now has so many people I can connect her with in her life so she never feels alone!”
The response, she says, has helped reshape how she sees the future.
“I have had people share their personal testimonies how having one eye has never stopped them. It has truly helped to give me positivity in something that seemed so so dreadful. The response from everyone else has also been so positive. There has been so much love and support. It's truly helped me to keep going and to be strong.”
At first, going viral came with complicated emotions.
“I felt guilty when she went viral at first. But as I stated, if I didn't, she wouldn't have this huge community of people.”
Now, she sees the impact more clearly.
“I have friends now with kids who have one eye who are her age and I can connect with. She has friends now who can relate with her. I have also had others reach out to me who are just now entering the journey who I have been able to help.”
Looking back, Kristen hopes sharing Miley's story will encourage other parents to trust their instincts.
“I hope people are just aware of the signs. Please, if you see a glow in your child's pupil. Go to the ER. In general, advocate for your kids. You as a parent know best!”
And for parents facing similar situations, she has one message.
“I would say - you are amazing. It's not your fault. Try not to carry guilt because we don't know what we don't know. I, myself, carry guilt for somehow not just KNOWING about this possibly diagnosis and getting her in sooner. But, we can only do what we can with the information we have.”
Jordan Greene
https://people.com/alarming-detail-baby-monitor-days-later-daughter-rare-diagnosis-exclusive-11954332
Because strabismus — commonly known as a “lazy eye” — affects about 2 to 4 percent of young children, according to the American Association for Pediatric Ophthalmology and Strabismus, there was no immediate concern.
Still, as the weeks passed, something didn't sit right.
Then one night in November, while giving Miley a bath, Kristen noticed something she couldn't brush off.
“I noticed she had a white pupil in the bathtub when she looked at me in the light. It looked like a glow in her eye,” the mom tells PEOPLE exclusively. “I panicked and started googling but was trying not to freak myself out.”
Even then, she tried to keep her fears in check.
But later that night, after Miley had gone to sleep, Kristen kept searching — until she came across a story that changed everything.
“I ended up researching after she went to bed and saw an article of a mom that found out her daughter had a tumor on a baby monitor because her daughter's eye was just black,” she says. “I then looked at the monitor and Miley's eye was black.”
In that moment, everything shifted.
Although her husband tried to reassure her, Kristen couldn't shake the feeling something wasn't right.
The next morning, on Nov. 9, the family drove to the emergency room, where her fears were confirmed. There, her daughter was diagnosed with retinoblastoma.
“It was dreadful. I felt alone," Kristen says. "I didn't know anyone with a child with cancer personally. I didn't know anyone with one eye. It was truly scary and I felt so scared for her future.”
Retinoblastoma is a rare type of eye cancer that typically begins in the retina — the light-sensitive tissue at the back of the eye — and most often affects young children, according to the Mayo Clinic. One of the most common warning signs is a white reflection in the pupil, sometimes noticeable in certain lighting or photos.
Just days earlier, life for Kristen and her family had felt steady and full. The 29-year-old, who lives near Cleveland, Ohio, shares a blended household with her husband — whom she met while they were both serving in the Air Force — along with his 13-year-old daughter, their 2½-year-old Miley and their 7-month-old baby. With a master's degree in social work, she was used to being the one helping others.
Less than two weeks later, the next step was clear. On Nov. 21, Miley underwent surgery to remove her eye.
“Her tumor ended up being grade E. Which typically means that the eye needs removed. They don't believe she had vision for a few months. It was hard to process this because she didn't even act like she had vision from one eye.”
In the days that followed, Kristen found herself looking back — wondering if there had been signs she missed.
But there weren't.
“My family and I are very attentive and we had no idea. it's amazing to me how well she adapted.”
And in many ways, Miley never stopped being Miley.
Now 2½, she still fills their home with energy and personality.
“She is so funny and loves to make us laugh, she loves to dance, she is empathetic and feels everyone's emotions around her. She loves princess dresses, painting her nails, all the girl things. But she also loves dinosaurs and helping her dad work with his tools.”
Still, the journey didn't end with surgery.
After doctors performed a biopsy, they determined the cancer had entered a high-risk area — meaning Miley would need chemotherapy.
“They told us she needs 6 rounds of chemo. She has her last round of chemo next month.”
Since then, their lives have revolved around treatment schedules and hospital stays.
“So far, she has needed 2 days of chemo a month. Three days total at the hospital with the last day being de-accessing her port and giving her a shot that helps raise her white blood cell count to help her fight infection during her treatment.”
But for Kristen, the hardest part has been the emotional toll.
“The most challenging part has been watching her be poked and prodded. Having her ask us to ‘just go home.'”
At home, a new routine brought its own challenges.
“We also have had to take out her prosthetic eye and clean it. Put it back in. This has been a hard adjustment for our whole family.”
And yet, through every step, Miley has led the way.
“Miley has blown us away. She has been so positive. She's been resilient. She has truly lead the way with her positivity. She is the strongest person that I know.”
In the midst of it all, Kristen found herself searching for connection — which ultimately led her to start sharing Miley's journey on TikTok.
“I am someone who really thrives having a community when I am going through something. I wanted to share Miley's story to help others who are facing hard times. I also want to give Miley a sense of purpose. So she can see that her hardship has helped others. I also wanted to give Miley a sense of community.”
What started as a way to cope quickly turned into something much bigger.
“Since posting Miley's journey, I have met SO many amazing men and women; girls and boys; with one eye. Miley now has so many people I can connect her with in her life so she never feels alone!”
The response, she says, has helped reshape how she sees the future.
“I have had people share their personal testimonies how having one eye has never stopped them. It has truly helped to give me positivity in something that seemed so so dreadful. The response from everyone else has also been so positive. There has been so much love and support. It's truly helped me to keep going and to be strong.”
At first, going viral came with complicated emotions.
“I felt guilty when she went viral at first. But as I stated, if I didn't, she wouldn't have this huge community of people.”
Now, she sees the impact more clearly.
“I have friends now with kids who have one eye who are her age and I can connect with. She has friends now who can relate with her. I have also had others reach out to me who are just now entering the journey who I have been able to help.”
Looking back, Kristen hopes sharing Miley's story will encourage other parents to trust their instincts.
“I hope people are just aware of the signs. Please, if you see a glow in your child's pupil. Go to the ER. In general, advocate for your kids. You as a parent know best!”
And for parents facing similar situations, she has one message.
“I would say - you are amazing. It's not your fault. Try not to carry guilt because we don't know what we don't know. I, myself, carry guilt for somehow not just KNOWING about this possibly diagnosis and getting her in sooner. But, we can only do what we can with the information we have.”
Jordan Greene
https://people.com/alarming-detail-baby-monitor-days-later-daughter-rare-diagnosis-exclusive-11954332
Wednesday, April 15, 2026
Genetic etiologies of epilepsies with status epilepticus
Marini C, Rosati A, Fusco L, Mastrangelo M, Izzo F, Olivotto S, Siliquini S, Cordelli DM, Mondardini MC, Vittorini R, Conio A, Battaglia DID, Pulitanò SM, Striano P, Riva A, Sartori S, Tona C, Darra F, Proietti J, Zanus C, Costa P, Parrini E, Guerrini R, Vigevano F, Bartolotta P; Italian Pediatric Status Epilepticus (IPSE) Group. Genetic Etiologies of Epilepsies With Status Epilepticus: Insights From the Italian Pediatric Status Epilepticus Group Cohort. Neurology. 2026 Apr 28;106(8):e214791. doi: 10.1212/WNL.0000000000214791. Epub 2026 Mar 31. PMID: 41915870.
Abstract
Background and objectives: Genetic factors are major contributors to pediatric epilepsy, but their role in status epilepticus (SE) remains incompletely defined. We aimed to characterize the clinical and genetic landscape of pediatric epilepsy complicated by SE in a large cohort, and to identify clinical features associated with genetic etiologies.
Methods: We conducted a retrospective, multicenter, exploratory cohort study by selecting patients aged 1 month-18 years who experienced SE from the Italian Pediatric Status Epilepticus (IPSE) group database (2010-2022). SE and epilepsy syndromes were defined according to International League Against Epilepsy criteria. From the IPSE dataset, we included only patients with epilepsy whose etiology was classified as genetic (confirmed or presumed) or nongenetic (lesional, autoimmune, metabolic-acquired, infectious, or unknown). Clinical data were collected using standardized electronic case report forms.
Results: Of 1,071 children in the IPSE cohort, 790 with SE and epilepsy were included (median age at SE onset 3.9 years, interquartile range 1.3-8.1; 44% female). A genetic etiology was confirmed or presumed in 519 (66%). Compared with those with nongenetic etiologies (n = 271), patients with genetic epilepsies presented with SE at a younger age (median 3.4 vs 4.8 years, q = 0.003) and more often had epilepsy with both focal and generalized seizures (31% vs 13%, q < 0.001). The underlying genetic abnormality was identified in 222 patients (42.7%) including 179 with confirmed single-gene pathogenic variants and 43 chromosomal alterations. Ion channel genes were most frequent (38%), with SCN1A variants accounting for 18% of confirmed single-gene cases. Neurodevelopmental and mTOR pathway genes were also frequent contributors. Logistic regression showed that younger age at SE (odds ratio [OR] 0.92, 95% CI 0.85-0.98, p = 0.020) and epilepsy with both focal and generalized seizures (OR 4.00, 95% CI 2.09-7.85, p < 0.001) were independently associated with channelopathies.
Discussion: In this large real-world cohort, two-thirds of children with epilepsy and SE had a genetic etiology, most commonly channelopathies. Younger age at SE and epilepsy with both focal and generalized seizure were linked to genetic causes. Despite limitations in testing strategies and retrospective design, these findings highlight the importance of systematic genetic investigation in pediatric epilepsies presenting SE.
Abstract
Background and objectives: Genetic factors are major contributors to pediatric epilepsy, but their role in status epilepticus (SE) remains incompletely defined. We aimed to characterize the clinical and genetic landscape of pediatric epilepsy complicated by SE in a large cohort, and to identify clinical features associated with genetic etiologies.
Methods: We conducted a retrospective, multicenter, exploratory cohort study by selecting patients aged 1 month-18 years who experienced SE from the Italian Pediatric Status Epilepticus (IPSE) group database (2010-2022). SE and epilepsy syndromes were defined according to International League Against Epilepsy criteria. From the IPSE dataset, we included only patients with epilepsy whose etiology was classified as genetic (confirmed or presumed) or nongenetic (lesional, autoimmune, metabolic-acquired, infectious, or unknown). Clinical data were collected using standardized electronic case report forms.
Results: Of 1,071 children in the IPSE cohort, 790 with SE and epilepsy were included (median age at SE onset 3.9 years, interquartile range 1.3-8.1; 44% female). A genetic etiology was confirmed or presumed in 519 (66%). Compared with those with nongenetic etiologies (n = 271), patients with genetic epilepsies presented with SE at a younger age (median 3.4 vs 4.8 years, q = 0.003) and more often had epilepsy with both focal and generalized seizures (31% vs 13%, q < 0.001). The underlying genetic abnormality was identified in 222 patients (42.7%) including 179 with confirmed single-gene pathogenic variants and 43 chromosomal alterations. Ion channel genes were most frequent (38%), with SCN1A variants accounting for 18% of confirmed single-gene cases. Neurodevelopmental and mTOR pathway genes were also frequent contributors. Logistic regression showed that younger age at SE (odds ratio [OR] 0.92, 95% CI 0.85-0.98, p = 0.020) and epilepsy with both focal and generalized seizures (OR 4.00, 95% CI 2.09-7.85, p < 0.001) were independently associated with channelopathies.
Discussion: In this large real-world cohort, two-thirds of children with epilepsy and SE had a genetic etiology, most commonly channelopathies. Younger age at SE and epilepsy with both focal and generalized seizure were linked to genetic causes. Despite limitations in testing strategies and retrospective design, these findings highlight the importance of systematic genetic investigation in pediatric epilepsies presenting SE.
A lupus story
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Doctors Thought This Mother Had Everything From Ringworm to Leukemia. After 19 Years She Was Finally Diagnosed with Lupus
"I always knew something was wrong with me," says Nyobie Gordon-Ricks, a mom of two
By Wendy Grossman Kantor Published on April 15, 2026 09:15AM EDT
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Doctors Thought it was Ringworm or Leukemia: After 19 Years She Was Diagnosed with Lupus
Nyobie Gordon-Ricks.
Credit : courtesy of Nyobie Gordon-Ricks
Nyobie Gordon-Ricks spent 19 years having her symptoms dismissed or misdiagnosed with everything from ringworm to leukemia before she was diagnosed with lupus in 2010.
“For years, I went to doctors and nobody listened to me,” says Nyobie Gordon-Ricks, 48 of Gilbert, Arizona, who works as a pharmacy technician. “I felt like no one understood and no one believed that there was really something wrong with me.”
Her long path to diagnosis isn’t unusual, says Dr. George Tsokos, a member of the Lupus Foundation of America Medical-Scientific Advisory Council, who has spent years educating healthcare professionals about the symptoms and signs of lupus, an autoimmune disease which attacks the body's own tissue. Because lupus can present in many different ways, symptoms can range from headaches and fatigue to joint paint to hair loss to seizures, which means that no two people might experience it the same way — and thus it can often be overlooked as a diagnosis.
“A big problem is, even in great medical centers, sometimes it takes a lot of time to diagnose,” says Tsokos, who is also chief of rheumatology and clinical immunology at Beth Israel Deconess Medical Center and professor at Harvard Medical School. “If there are symptoms that are not explained, insist on getting more expert opinions and find people who can treat early and treat aggressively.”
Now an ambassador for the Lupus Foundation of America, Gordon-Ricks shares her story urging others to advocate for themselves and to know they are not alone as they battle lupus, a misunderstood and often invisible illness.
“I want people to know that you have to look beyond what's visible. This disease is a disease that nobody can see,” she says.
Gordon-Ricks says her symptoms started when she was 13. Her knees and ankles were swollen, her back hurt and she had a rash on her face.
Her mother took her to a doctor who dismissed it as hormonal changes from puberty.
A year later, she started having episodes of partial paralysis. “I would go numb from my waist down,” she recalls. “I told my mom and she thought I was being lazy and I didn't want to go to school. I would literally lay on our living room floor for hours, waiting for the feeling to come back.”
The second time the paralysis happened, her mother called an ambulance. At the hospital, she was categorized as having a “mental episode,” she says. She was hospitalized for two days, then released: “After that I was like, “I'm just not going to tell anybody anything anymore because nobody's believing me."
She experienced partial paralysis throughout high school, she says, and would wait out the episodes with a heating pad and pain medications.
“There were days where I felt well, and then there were days where I wasn't,” she says. “I didn't know what was going on with me."
In 2009, she got a rash on her back, arms and legs; the first dermatologist she saw said she had ringworm. The second doctor thought it didn’t look like ringworm, but didn't have a better suggestion. Steroid cream helped and the rash went away, but Gordon-Ricks wanted to know what was wrong. She was, 32, engaged and planning her wedding.
In May 2010, she told her gynecologist about her symptoms; bloodwork showed her platelets and red and white blood cells were all low. She saw a series of doctors who thought she might have leukemia, multiple sclerosis or rheumatoid arthritis. The sixth specialist she visited asked if anyone in her family had lupus. She said no.
On December 11, 2010, she learned she tested positive for lupus. It was five days before her 33rd birthday.
“I'm feeling a little bit of relief because now I know what's wrong with me, but now I'm scared because I don't know what this means for me,” she says.
Her fiancé told her she would be fine. His aunt had lupus, and she always seemed fine, he said.
“I said, ‘From what I understand, a person can look fine but still be sick. Right now, I know physically I look good. But I feel like crap. Everything is sore. Everything hurts. When I move, it hurts,’ ” she recalls.
The unpredictability also meant she needed help caring for her then-3-year-old daughter and 8-year-old son.
“I went from wrestling with my kids to it hurting just for one of them to hug me,” she says. “I was in bed for days because the furthest I could go was from my bedroom to my bathroom. I couldn't comb my hair. I could barely brush my teeth. It was a hard adjustment because you're looking at somebody who on the outside looks healthy, but the inside their body is falling apart.”
She took her mother or her fiancé with her when she went to the doctor, because she had trouble remembering what the doctor told her.
“I was really spacey,” she says. “I could be in the middle of a conversation and I'll just stop talking because I lose train of thought.”
Plus she was having terrible headaches. “It felt like I can feel a heartbeat in my skull, all like the thump. I don't know what's going on,” she says.
https://people.com/lupus-diagnosis-after-years-of-misdiagnosis-exclusive-11919604
Her doctor ordered a full body scan. “He said, ‘You have inflammation from your brain to your toes. There is some type of swelling in every single part of your body,' " she recalls. The diagnosis: Lupus cerebritis, which affects the brain.
“I was scared for my life,” she recalls: “Can I die from this? Is this something that's fatal? How treatable is it?”
In March 2012, she started 12 rounds of monthly chemotherapy, which was effective.
And when she returned to the gynecologist who first took her symptoms seriously, Gordon-Ricks was emotional. "I told her, 'You literally saved my life. It's in my kidneys, it’s attacking my joints, and it's in my brain.’ She just hugged me and I cried like a baby. I was like, 'I don't think that I would be here if you didn't listen to me.' "
When Gordon-Ricks finished chemo, she and her fiancé moved to Arizona and got married in March 2014. “He’s been a big support. He goes to the doctor with me. He asks questions that I may not ask. He recognizes when I'm not feeling well, even when I pretend that I'm okay. He's even helped me facilitate lupus support groups. He was able to step in and help me the way that I needed help,” she says.
Her lupus nephritis went into remission in 2017. Because the lupus attacked her ovaries, cervix, and fallopian tubes, she had a full hysterectomy in September 2018.
Today, her lupus is still active, but is controlled by medication. She actively volunteers with the Lupus Foundation as an ambassador, speaking at health fairs and spreading awareness. She shares her story in hopes it will help other people get diagnosed more quickly than she did. She runs her own lupus awareness website, the Arizona Butterfly Warriors, and is active on social media.
“The biggest advice I can give is: Never give up. Learn how to be an advocate for yourself. Learn how to ask for a second opinion. Never take no for an answer. If you feel like you're not being heard, if you feel like your doctor isn't listening, find a new doctor,” she says. “If you know in your heart something's wrong with you, you need to keep going until you get the answers that you deserve. There is hope: There are people that are willing to listen. You just have to find them.”
A lupus diagnosis, she says, is not a death sentence.
“We can survive this,” she says.
https://people.com/lupus-diagnosis-after-years-of-misdiagnosis-exclusive-11919604
Sunday, April 12, 2026
Why only boys or girls sometimes runs in the family
Women who have had multiple children of the same sex are more likely to have another baby of the same sex, a new study has found.
Maternal age and genetics could be ‘weighting the coin toss’ for some couples, rather than every child having a truly random 50/50 chance of being a boy or a girl.
The study also showed that older mothers were more likely to have children of the same sex, and revealed two genes that could increase the likelihood of having all female or all male children, respectively.
A child’s sex at conception is determined by whether the sperm carries an X or Y chromosome, which should mean it’s a perfect coin flip over whether a child will be a boy or a girl.
However, PhD student Siwen Wang from Harvard University noticed this didn’t always seem to be the case.
“This project actually began with casual conversations among co-authors and friends about families we knew who had all boys or all girls,” said Wang to BBC Science Focus.
“It came up often enough that we started wondering: is it really just chance? Or is there a biological reason some families keep having children of the same sex?”
Wang and her colleagues drew on information from more than 58,007 women who had given birth to two or more children, checking if there were more families with siblings of all the same sex than you might expect due to random chance.
They found that if a couple had already had three boys, they had a 61 per cent chance of having another boy. Similarly, there was a 58 per cent chance of having another girl after having three girls.
The study identified a few factors that potentially tipped the scales in favour of all girl or all boy families.
“Women who had their first child after age 28 had about a 10 per cent higher chance of having only boys or only girls, compared to those who started before age 23,” said Wang. “So it’s not a huge shift, but it’s statistically significant.”
Though the study didn’t look into what might be causing this link, Wang did speculate on a few theories.
“As women age, they experience physiological changes such as shorter follicular phase and lower vaginal pH,” she said.
The follicular phase is the first stage of the menstrual cycle and tends to favour the survival of Y-chromosome sperm. Lower vaginal pH, however, favours X-chromosome sperm.
“These effects may differ from woman to woman, so ageing may tip the balance toward one sex or the other, depending on their specific biology,” said Wang.
Wang also suggested another possible connection.
“Older maternal age is usually highly associated with older paternal age. But unfortunately, we did not have paternal data to explore this aspect in our study," said Wang.
The researchers were also able to obtain genetic information for 7,530 women included in the study, looking for any relevant genetic markers. They found two – SNP NSUN6, which was associated with all female offspring; and SNP TSHZ1, which correlated to all male.
Wang also looked into whether behavioural factors could be creating such runs of single-sex children, such as couples who keep having boys continuing to have children until they have a girl, and vice versa.
“We ran analyses where we excluded the last birth in each family, which is the one most likely to be influenced by parents stopping once they’ve had both a boy and a girl. Even after doing that, we still see strong same-sex clustering,” said Wang.
About our expert
Siwen Wang is a PhD student in Nutritional Epidemiology at Harvard T.H. Chan School of Public Health. She investigates how nutrition, lifestyle, and psychosocial factors affect maternal and child health.
https://www.sciencefocus.com/news/boys-girls-birth
Maternal age and genetics could be ‘weighting the coin toss’ for some couples, rather than every child having a truly random 50/50 chance of being a boy or a girl.
The study also showed that older mothers were more likely to have children of the same sex, and revealed two genes that could increase the likelihood of having all female or all male children, respectively.
A child’s sex at conception is determined by whether the sperm carries an X or Y chromosome, which should mean it’s a perfect coin flip over whether a child will be a boy or a girl.
However, PhD student Siwen Wang from Harvard University noticed this didn’t always seem to be the case.
“This project actually began with casual conversations among co-authors and friends about families we knew who had all boys or all girls,” said Wang to BBC Science Focus.
“It came up often enough that we started wondering: is it really just chance? Or is there a biological reason some families keep having children of the same sex?”
Wang and her colleagues drew on information from more than 58,007 women who had given birth to two or more children, checking if there were more families with siblings of all the same sex than you might expect due to random chance.
They found that if a couple had already had three boys, they had a 61 per cent chance of having another boy. Similarly, there was a 58 per cent chance of having another girl after having three girls.
The study identified a few factors that potentially tipped the scales in favour of all girl or all boy families.
“Women who had their first child after age 28 had about a 10 per cent higher chance of having only boys or only girls, compared to those who started before age 23,” said Wang. “So it’s not a huge shift, but it’s statistically significant.”
Though the study didn’t look into what might be causing this link, Wang did speculate on a few theories.
“As women age, they experience physiological changes such as shorter follicular phase and lower vaginal pH,” she said.
The follicular phase is the first stage of the menstrual cycle and tends to favour the survival of Y-chromosome sperm. Lower vaginal pH, however, favours X-chromosome sperm.
“These effects may differ from woman to woman, so ageing may tip the balance toward one sex or the other, depending on their specific biology,” said Wang.
Wang also suggested another possible connection.
“Older maternal age is usually highly associated with older paternal age. But unfortunately, we did not have paternal data to explore this aspect in our study," said Wang.
The researchers were also able to obtain genetic information for 7,530 women included in the study, looking for any relevant genetic markers. They found two – SNP NSUN6, which was associated with all female offspring; and SNP TSHZ1, which correlated to all male.
Wang also looked into whether behavioural factors could be creating such runs of single-sex children, such as couples who keep having boys continuing to have children until they have a girl, and vice versa.
“We ran analyses where we excluded the last birth in each family, which is the one most likely to be influenced by parents stopping once they’ve had both a boy and a girl. Even after doing that, we still see strong same-sex clustering,” said Wang.
About our expert
Siwen Wang is a PhD student in Nutritional Epidemiology at Harvard T.H. Chan School of Public Health. She investigates how nutrition, lifestyle, and psychosocial factors affect maternal and child health.
https://www.sciencefocus.com/news/boys-girls-birth
Tuesday, April 7, 2026
CACNA1E mutation
Kayleigh and Ryan Dunn’s 11-month-old daughter, Lorelei, was diagnosed with CACNA1E. Due to this neurological condition, she lives with mobility challenges, experiences frequent seizures and requires a feeding tube.
Patrick Lawlor, Lorelei's neurologist in Michigan, described the severity of CACNA1E to local news outlet WXYZ, saying, “The lack of progress is something that really signals how severe her disorder is. Probably one of the most severe children I’ve taken care of. She has clusters of brief seizures. Sometimes 10 or 20 times per day.”
The Michigan mom explained that it's “even harder” because Lorelei has “no head control or upper body control.” Kayleigh added, "Even though we’re desensitized. It breaks my heart to see her like this."
Kayleigh has been documenting Lorelei's health journey on TikTok, inciting an outpouring of love and support, including when she had a G-tube surgery in January.
"She took it like a champ, and I could not be prouder of her," Kayleigh captioned the TikTok video. "I cannot wait to get her home and comfortable in her own bed. But for now, I’m going to enjoy this quiet moment alone in our little hospital room, just the two of us."
Kayleigh told WXYZ that Lorelei, who enjoys bath time, is nonverbal, adding, “For someone who is nonverbal, she is very vocal.”
The mother is hopeful that their family’s story encourages other people to get tested for neurological conditions.
Angela Munaco, one of the family’s close friends set up a GoFundMe to help the family cover Lorelei's medical bills and other costs.
“Shortly after her diagnosis, Kayleigh’s husband [Ryan] suffered a serious back injury at work, leaving him unable to work for several months,” the GoFundMe said. “Between his recovery, endless doctor appointments, and the long wait for state approval of Lorelei’s special needs insurance, Kayleigh had no choice but to step back from full-time work. She now works part-time when she can, balancing her career with being Lorelei’s full-time caregiver.”
Kayleigh told WXYZ, “I just want [Lorelei] to know I tried everything I can to make her better.”
Lexi Lane
https://people.com/michigan-girl-diagnosed-with-rare-genetic-disorder-cacna1e-11940319
Di Micco V, Affronte L, Khinchi MS, Rønde G, Miranda MJ, Hammer TB, Specchio N, Beniczky S, Olofsson K, Møller RS, Gardella E. Seizure and movement disorder in CACNA1E developmental and epileptic encephalopathy: Two sides of the same coin or same side of two different coins? Epileptic Disord. 2024 Aug;26(4):520-526. doi: 10.1002/epd2.20242. Epub 2024 May 23. PMID: 38780451.
Abstract
Pathogenic variants in CACNA1E are associated with early-onset epileptic and developmental encephalopathy (DEE). Severe to profound global developmental delay, early-onset refractory seizures, severe hypotonia, and macrocephaly are the main clinical features. Patients harboring the recurrent CACNA1E variant p.(Gly352Arg) typically present with the combination of early-onset DEE, dystonia/dyskinesia, and contractures. We describe a 2-year-and-11-month-old girl carrying the p.(Gly352Arg) CACNA1E variant. She has a severe DEE with very frequent drug-resistant seizures, profound hypotonia, and episodes of dystonia and dyskinesia. Long-term video-EEG-monitoring documented subsequent tonic asymmetric seizures during wakefulness and mild paroxysmal dyskinesias of the trunk out of sleep which were thought to be a movement disorder and instead turned out to be focal hyperkinetic seizures. This is the first documented description of the EEG findings in this disorder. Our report highlights a possible overlap between cortical and subcortical phenomena in CACNA1E-DEE. We also underline how a careful electro-clinical evaluation might be necessary for a correct discernment between the two disorders, playing a fundamental role in the clinical assessment and proper management of children with CACNA1E-DEE.
Ortiz Cabrera NV, Duat Rodríguez A, Fernández Garoz B, Bernardino Cuesta B, Jiménez Legido M, Cantarín Extremera V, García Peñas JJ. Dystonia and Contractures are Potential Early Signs of CACNA1E-Related Epileptic Encephalopathy. Mol Syndromol. 2021 Mar;12(1):25-32. doi: 10.1159/000511926. Epub 2020 Dec 10. PMID: 33776624; PMCID: PMC7983621.
Abstract
Epileptic encephalopathy related to CACNA1E has been described as a severe neurodevelopmental disorder presenting with early-onset refractory seizures, hypotonia, macrocephaly, hyperkinetic movements, and contractures and is associated with an autosomal dominant inheritance pattern. Most pathogenic variants described to date are missense variants with a gain of function effect, and the role of haploinsufficiency has yet to be clarified. We describe 2 cases of CACNA1E encephalopathy. Notable findings include congenital contractures and movement disorders predating onset of epilepsy, particularly dystonia. We further compared the key phenotypic features depending on variant location. In conclusion, the appearance of congenital contractures, areflexia, and movement disorders before the onset of epilepsy may provide key guidance in the diagnosis of epileptic CACNA1E encephalopathy. A genotype-phenotype correlation was found between the presence of movement disorders and severe intellectual disability and the location of the variant in the CACNA1E gene.
Helbig KL, Lauerer RJ, Bahr JC, Souza IA, Myers CT, Uysal B, Schwarz N, Gandini MA, Huang S, Keren B, Mignot C, Afenjar A, Billette de Villemeur T, Héron D, Nava C, Valence S, Buratti J, Fagerberg CR, Soerensen KP, Kibaek M, Kamsteeg EJ, Koolen DA, Gunning B, Schelhaas HJ, Kruer MC, Fox J, Bakhtiari S, Jarrar R, Padilla-Lopez S, Lindstrom K, Jin SC, Zeng X, Bilguvar K, Papavasileiou A, Xing Q, Zhu C, Boysen K, Vairo F, Lanpher BC, Klee EW, Tillema JM, Payne ET, Cousin MA, Kruisselbrink TM, Wick MJ, Baker J, Haan E, Smith N, Sadeghpour A, Davis EE, Katsanis N; Task Force for Neonatal Genomics; Corbett MA, MacLennan AH, Gecz J, Biskup S, Goldmann E, Rodan LH, Kichula E, Segal E, Jackson KE, Asamoah A, Dimmock D, McCarrier J, Botto LD, Filloux F, Tvrdik T, Cascino GD, Klingerman S, Neumann C, Wang R, Jacobsen JC, Nolan MA, Snell RG, Lehnert K, Sadleir LG, Anderlid BM, Kvarnung M, Guerrini R, Friez MJ, Lyons MJ, Leonhard J, Kringlen G, Casas K, El Achkar CM, Smith LA, Rotenberg A, Poduri A, Sanchis-Juan A, Carss KJ, Rankin J, Zeman A, Raymond FL, Blyth M, Kerr B, Ruiz K, Urquhart J, Hughes I, Banka S; Deciphering Developmental Disorders Study; Hedrich UBS, Scheffer IE, Helbig I, Zamponi GW, Lerche H, Mefford HC. De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. Am J Hum Genet. 2018 Nov 1;103(5):666-678. doi: 10.1016/j.ajhg.2018.09.006. Epub 2018 Oct 18. Erratum in: Am J Hum Genet. 2019 Mar 7;104(3):562. doi: 10.1016/j.ajhg.2019.02.015. PMID: 30343943; PMCID: PMC6216110.
Abstract
Developmental and epileptic encephalopathies (DEEs) are severe neurodevelopmental disorders often beginning in infancy or early childhood that are characterized by intractable seizures, abundant epileptiform activity on EEG, and developmental impairment or regression. CACNA1E is highly expressed in the central nervous system and encodes the α1-subunit of the voltage-gated CaV2.3 channel, which conducts high voltage-activated R-type calcium currents that initiate synaptic transmission. Using next-generation sequencing techniques, we identified de novo CACNA1E variants in 30 individuals with DEE, characterized by refractory infantile-onset seizures, severe hypotonia, and profound developmental impairment, often with congenital contractures, macrocephaly, hyperkinetic movement disorders, and early death. Most of the 14, partially recurring, variants cluster within the cytoplasmic ends of all four S6 segments, which form the presumed CaV2.3 channel activation gate. Functional analysis of several S6 variants revealed consistent gain-of-function effects comprising facilitated voltage-dependent activation and slowed inactivation. Another variant located in the domain II S4-S5 linker results in facilitated activation and increased current density. Five participants achieved seizure freedom on the anti-epileptic drug topiramate, which blocks R-type calcium channels. We establish pathogenic variants in CACNA1E as a cause of DEEs and suggest facilitated R-type calcium currents as a disease mechanism for human epilepsy and developmental disorders.
Patrick Lawlor, Lorelei's neurologist in Michigan, described the severity of CACNA1E to local news outlet WXYZ, saying, “The lack of progress is something that really signals how severe her disorder is. Probably one of the most severe children I’ve taken care of. She has clusters of brief seizures. Sometimes 10 or 20 times per day.”
The Michigan mom explained that it's “even harder” because Lorelei has “no head control or upper body control.” Kayleigh added, "Even though we’re desensitized. It breaks my heart to see her like this."
Kayleigh has been documenting Lorelei's health journey on TikTok, inciting an outpouring of love and support, including when she had a G-tube surgery in January.
"She took it like a champ, and I could not be prouder of her," Kayleigh captioned the TikTok video. "I cannot wait to get her home and comfortable in her own bed. But for now, I’m going to enjoy this quiet moment alone in our little hospital room, just the two of us."
Kayleigh told WXYZ that Lorelei, who enjoys bath time, is nonverbal, adding, “For someone who is nonverbal, she is very vocal.”
The mother is hopeful that their family’s story encourages other people to get tested for neurological conditions.
Angela Munaco, one of the family’s close friends set up a GoFundMe to help the family cover Lorelei's medical bills and other costs.
“Shortly after her diagnosis, Kayleigh’s husband [Ryan] suffered a serious back injury at work, leaving him unable to work for several months,” the GoFundMe said. “Between his recovery, endless doctor appointments, and the long wait for state approval of Lorelei’s special needs insurance, Kayleigh had no choice but to step back from full-time work. She now works part-time when she can, balancing her career with being Lorelei’s full-time caregiver.”
Kayleigh told WXYZ, “I just want [Lorelei] to know I tried everything I can to make her better.”
Lexi Lane
https://people.com/michigan-girl-diagnosed-with-rare-genetic-disorder-cacna1e-11940319
Di Micco V, Affronte L, Khinchi MS, Rønde G, Miranda MJ, Hammer TB, Specchio N, Beniczky S, Olofsson K, Møller RS, Gardella E. Seizure and movement disorder in CACNA1E developmental and epileptic encephalopathy: Two sides of the same coin or same side of two different coins? Epileptic Disord. 2024 Aug;26(4):520-526. doi: 10.1002/epd2.20242. Epub 2024 May 23. PMID: 38780451.
Abstract
Pathogenic variants in CACNA1E are associated with early-onset epileptic and developmental encephalopathy (DEE). Severe to profound global developmental delay, early-onset refractory seizures, severe hypotonia, and macrocephaly are the main clinical features. Patients harboring the recurrent CACNA1E variant p.(Gly352Arg) typically present with the combination of early-onset DEE, dystonia/dyskinesia, and contractures. We describe a 2-year-and-11-month-old girl carrying the p.(Gly352Arg) CACNA1E variant. She has a severe DEE with very frequent drug-resistant seizures, profound hypotonia, and episodes of dystonia and dyskinesia. Long-term video-EEG-monitoring documented subsequent tonic asymmetric seizures during wakefulness and mild paroxysmal dyskinesias of the trunk out of sleep which were thought to be a movement disorder and instead turned out to be focal hyperkinetic seizures. This is the first documented description of the EEG findings in this disorder. Our report highlights a possible overlap between cortical and subcortical phenomena in CACNA1E-DEE. We also underline how a careful electro-clinical evaluation might be necessary for a correct discernment between the two disorders, playing a fundamental role in the clinical assessment and proper management of children with CACNA1E-DEE.
Ortiz Cabrera NV, Duat Rodríguez A, Fernández Garoz B, Bernardino Cuesta B, Jiménez Legido M, Cantarín Extremera V, García Peñas JJ. Dystonia and Contractures are Potential Early Signs of CACNA1E-Related Epileptic Encephalopathy. Mol Syndromol. 2021 Mar;12(1):25-32. doi: 10.1159/000511926. Epub 2020 Dec 10. PMID: 33776624; PMCID: PMC7983621.
Abstract
Epileptic encephalopathy related to CACNA1E has been described as a severe neurodevelopmental disorder presenting with early-onset refractory seizures, hypotonia, macrocephaly, hyperkinetic movements, and contractures and is associated with an autosomal dominant inheritance pattern. Most pathogenic variants described to date are missense variants with a gain of function effect, and the role of haploinsufficiency has yet to be clarified. We describe 2 cases of CACNA1E encephalopathy. Notable findings include congenital contractures and movement disorders predating onset of epilepsy, particularly dystonia. We further compared the key phenotypic features depending on variant location. In conclusion, the appearance of congenital contractures, areflexia, and movement disorders before the onset of epilepsy may provide key guidance in the diagnosis of epileptic CACNA1E encephalopathy. A genotype-phenotype correlation was found between the presence of movement disorders and severe intellectual disability and the location of the variant in the CACNA1E gene.
Helbig KL, Lauerer RJ, Bahr JC, Souza IA, Myers CT, Uysal B, Schwarz N, Gandini MA, Huang S, Keren B, Mignot C, Afenjar A, Billette de Villemeur T, Héron D, Nava C, Valence S, Buratti J, Fagerberg CR, Soerensen KP, Kibaek M, Kamsteeg EJ, Koolen DA, Gunning B, Schelhaas HJ, Kruer MC, Fox J, Bakhtiari S, Jarrar R, Padilla-Lopez S, Lindstrom K, Jin SC, Zeng X, Bilguvar K, Papavasileiou A, Xing Q, Zhu C, Boysen K, Vairo F, Lanpher BC, Klee EW, Tillema JM, Payne ET, Cousin MA, Kruisselbrink TM, Wick MJ, Baker J, Haan E, Smith N, Sadeghpour A, Davis EE, Katsanis N; Task Force for Neonatal Genomics; Corbett MA, MacLennan AH, Gecz J, Biskup S, Goldmann E, Rodan LH, Kichula E, Segal E, Jackson KE, Asamoah A, Dimmock D, McCarrier J, Botto LD, Filloux F, Tvrdik T, Cascino GD, Klingerman S, Neumann C, Wang R, Jacobsen JC, Nolan MA, Snell RG, Lehnert K, Sadleir LG, Anderlid BM, Kvarnung M, Guerrini R, Friez MJ, Lyons MJ, Leonhard J, Kringlen G, Casas K, El Achkar CM, Smith LA, Rotenberg A, Poduri A, Sanchis-Juan A, Carss KJ, Rankin J, Zeman A, Raymond FL, Blyth M, Kerr B, Ruiz K, Urquhart J, Hughes I, Banka S; Deciphering Developmental Disorders Study; Hedrich UBS, Scheffer IE, Helbig I, Zamponi GW, Lerche H, Mefford HC. De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. Am J Hum Genet. 2018 Nov 1;103(5):666-678. doi: 10.1016/j.ajhg.2018.09.006. Epub 2018 Oct 18. Erratum in: Am J Hum Genet. 2019 Mar 7;104(3):562. doi: 10.1016/j.ajhg.2019.02.015. PMID: 30343943; PMCID: PMC6216110.
Abstract
Developmental and epileptic encephalopathies (DEEs) are severe neurodevelopmental disorders often beginning in infancy or early childhood that are characterized by intractable seizures, abundant epileptiform activity on EEG, and developmental impairment or regression. CACNA1E is highly expressed in the central nervous system and encodes the α1-subunit of the voltage-gated CaV2.3 channel, which conducts high voltage-activated R-type calcium currents that initiate synaptic transmission. Using next-generation sequencing techniques, we identified de novo CACNA1E variants in 30 individuals with DEE, characterized by refractory infantile-onset seizures, severe hypotonia, and profound developmental impairment, often with congenital contractures, macrocephaly, hyperkinetic movement disorders, and early death. Most of the 14, partially recurring, variants cluster within the cytoplasmic ends of all four S6 segments, which form the presumed CaV2.3 channel activation gate. Functional analysis of several S6 variants revealed consistent gain-of-function effects comprising facilitated voltage-dependent activation and slowed inactivation. Another variant located in the domain II S4-S5 linker results in facilitated activation and increased current density. Five participants achieved seizure freedom on the anti-epileptic drug topiramate, which blocks R-type calcium channels. We establish pathogenic variants in CACNA1E as a cause of DEEs and suggest facilitated R-type calcium currents as a disease mechanism for human epilepsy and developmental disorders.
Monday, April 6, 2026
Cardiac disease burden in DDX3X syndrome
Carlos Gallego-Navarro, Jeanne L. Theis, Radhika Dhamija et al. Under-recognized Cardiac Disease Burden in DDX3X Syndrome: Spectrum of Cardiovascular Abnormalities and Longitudinal Outcomes, 01 April 2026, PREPRINT (Version 1) available at Research Square [https://doi.org/10.21203/rs.3.rs-9059706/v1]
Abstract
Background
DDX3X-syndrome is a rare neurodevelopmental disorder characterized by varying degrees of intellectual disability, predominantly affecting females. We present an institutional cohort supplemented by a systematic literature review, expanding the cardiovascular phenotype of DDX3X-syndrome.
Methods
We conducted a retrospective chart review of patients diagnosed with DDX3X-syndrome at Mayo Clinic. Additionally, we performed a systematic literature review to identify studies reporting cardiovascular abnormalities in patients with DDX3X-syndrome.
Results
A total of 200 patients with DDX3X-syndrome were analyzed, comprising 14 patients from our institutional cohort and 186 patients identified through a systematic review of 9 published studies. Our institutional cohort included 14 patients (12 females and 2 males) from 13 unrelated families diagnosed with DDX3X-syndrome, at a median age of 4.5 years (IQR 1.2–9.5). Echocardiogram was performed on nine patients, and cardiovascular abnormalities were found in 7 out of 9 patients who underwent echocardiography (78%), two of whom had major congenital heart defect (CHD) requiring surgical intervention. At the time of assessment, 13 individuals were still alive, while one had died at age six due to extracardiac complications. The systematic review included 9 studies involving 186 patients, of whom 32 (17.4%, 25 females and 7 males) had reported cardiovascular abnormalities, ranging from simple CHDs to more complex defects.
Conclusion
DDX3X-syndrome carries a significant cardiovascular burden, which is possibly higher than previously reported, including complex congenital heart disease requiring surgical repair. A thorough cardiovascular assessment, including an electrocardiogram and echocardiogram, should be universally recommended for all patients at the time of diagnosis.
Abstract
Background
DDX3X-syndrome is a rare neurodevelopmental disorder characterized by varying degrees of intellectual disability, predominantly affecting females. We present an institutional cohort supplemented by a systematic literature review, expanding the cardiovascular phenotype of DDX3X-syndrome.
Methods
We conducted a retrospective chart review of patients diagnosed with DDX3X-syndrome at Mayo Clinic. Additionally, we performed a systematic literature review to identify studies reporting cardiovascular abnormalities in patients with DDX3X-syndrome.
Results
A total of 200 patients with DDX3X-syndrome were analyzed, comprising 14 patients from our institutional cohort and 186 patients identified through a systematic review of 9 published studies. Our institutional cohort included 14 patients (12 females and 2 males) from 13 unrelated families diagnosed with DDX3X-syndrome, at a median age of 4.5 years (IQR 1.2–9.5). Echocardiogram was performed on nine patients, and cardiovascular abnormalities were found in 7 out of 9 patients who underwent echocardiography (78%), two of whom had major congenital heart defect (CHD) requiring surgical intervention. At the time of assessment, 13 individuals were still alive, while one had died at age six due to extracardiac complications. The systematic review included 9 studies involving 186 patients, of whom 32 (17.4%, 25 females and 7 males) had reported cardiovascular abnormalities, ranging from simple CHDs to more complex defects.
Conclusion
DDX3X-syndrome carries a significant cardiovascular burden, which is possibly higher than previously reported, including complex congenital heart disease requiring surgical repair. A thorough cardiovascular assessment, including an electrocardiogram and echocardiogram, should be universally recommended for all patients at the time of diagnosis.
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