Neurofibromatosis--mother and child

A Pennsylvania mother and her one-year-old son share an unusual bond. They are both living with the same rare genetic disease.

Lindsey Marson, 28, and her son, Bryson, were both born with Neurofibromatosis Type 1 (NF), "a genetic disorder that causes tumors to form throughout the body," according to Johns Hopkins Medicine.

The specific type of NF that Marson and her son have "is one of the most common inherited disorders and affects about one in every 3,000 people," the health care organization continued.

Even though the stay-at-home-mom and her baby have the same genetic disease, they are each impacted in different ways.

When Lindsey Marson was born, one of the hospital's nurses noticed several "light brown, flat patches" on her body — and indicated that this could be sign of NF, Marson told Fox News Digital.

As she continued to grow, her right leg started to curve into an "S" shape, called congenital pseudarthrosis of the tibia, another indicator of NF, she said. 

By the age of two, Marson was clinically diagnosed with NF Type 1.

Marson said that as a child, she had to have her leg lengthened and strengthened through an external fixation device, which ensures bones remain in an "optimal position during the healing process," according to the National Library of Medicine.

"I literally had 10 rods drilled through my bones. They came out through my skin, surrounded by a halo, and I had to turn pins each night that would separate the broken bone inside my leg," Marson said. 

"So that way new bone could grow, and my legs could catch up."

In spite of facing health challenges during her growing-up years, Marson was able to attend high school and even go on to beauty school before working at a hair salon for almost two years.

Being a hairdresser meant continuous standing. And even though Marson wears a brace full time, she found that long hours of sustained movement on her legs began to cause a great deal of pain, she said.

Marson left her salon and moved into a human resources position, which she said she loved because she calls herself a "people person."

"I wanted to change the dynamic of HR to employees or associates, because HR is always scary, and I never wanted to be the scary HR lady," Marson said.

"I wanted to be the one where people were like, ‘I can go to her for anything.'"

During her time in HR, Marson became pregnant with Bryson. Before that, she was doing research on genetic tests in the hope that he would not inherit the disease, she said.

"With NF, you have a 50% chance of passing along [the condition] to your child," Marson added.

Bryson was her "surprise blessing," as she likes to put it.

Marson said she chose to forgo any NF testing for her baby while she was pregnant, because she was planning on having the baby no matter the outcome.

One thing she learned along the way: NF presents itself differently for almost every person — even if people have the same type.

When Bryson was born, his eye was swollen and doctors at the time believed it was from birth trauma following her Caesarian section, Marson stated.

Shortly after giving birth, Marson took one-month-old Bryson to see an ophthalmologist, where he had an MRI.

"The MRI showed that he had a large plexiform tumor behind his eye, in his face and in part of his brain," Marson said.

By the time Bryson was three months old, the large tumor had grown — so he was taken to Children's Hospital of Philadelphia (CHOP) to start chemo.

He was put on MEK chemotherapy, an oral form of chemo that can administered at home.

While the chemo stabilized the tumor, side effects left Bryson with a severe rash — so Marson and Bryson's oncologist decided to stop administering the chemo, Marson said.

Surgery could not remove Bryson's tumor in its entirety because his particular tumor is "like a spider web throughout his face, his brain [and] his eye," Marson explained.

The tumor in Bryson's eye began compromising his vision, so a portion of the tumor was removed by his ophthalmologist.

Marson is now over a year old, but the tumors in his face and brain have only continued to grow, Marson said after her son had another MRI in May.

Marson and her son went through genetic testing, and it lined up perfectly. 

They "have the exact same variant," she stated — but they have completely different symptoms.

"I saw that NF could be severe, but I totally thought, 'I didn't have it severe, so Bryson is not going to have it severe,'" she added.

While seeing her son struggle with NF has been difficult, Marson said her own diagnosis of the same genetic disease has made it slightly easier because she has a level of understanding her own parents did not have when she was growing up.

"We are definitely closer because of this. I mean, he is my little baby."

"It was still really scary, and I still felt extremely guilty," Marson said.

She added, "It was still hard, but it wasn't as hard because I knew all the terminology and I knew what to expect."

Marson believes the best thing a parent can do for a child is be an advocate — and find moments of positivity.

She started a Facebook page to educate others on the condition, hoping to bring awareness to NF and help others know how to recognize it in a child.

"We are definitely closer because of this. I mean, he is my little baby," Marson said of herself and her son.

"I feel like we have a stronger bond because of it and I know what he is going through, and I will be there for him 100% of the time," she said. 

This year, the Children's Tumor Foundation featured Marson and Bryson in a photo series with other parents and their children who are fighting NF together.

https://www.foxnews.com/lifestyle/pennsylvania-mother-son-both-born-rare-genetic-disease-closer-this

The study and use of psychedelics in cluster headache

Headache Horizons: The Study and Use of Psychedelics in Cluster Headache

Psychedelics have a history of use in headache disorders and evidence exists for their therapeutic benefit in cluster headache.

Risako A. Shirane, MD, MSc; Christopher H. Gottschalk, MD, FAHS; and Emmanuelle A.D. Schindler, MD, PhD, FAHS

Cluster headache (CH) is a rare primary headache disorder characterized by paroxysmal attacks of unilateral severe orbital or periorbital pain. Also known as suicide headache, CH is said to be the most intensely painful condition known to humankind. CH affects up to 0.1% of the population, with a significant male predominance. CH refers to the disorder; cluster attacks, to the paroxysms of head pain. People with episodic CH have pain attacks during cluster periods or cycles, which last from weeks to months. People with chronic CH have attacks year-round without a remission period (an extended attack-free period) for longer than 3 months. Cluster attacks occur up to 8 times per day, each lasting for 15 to 180 minutes. Because of its severity and propensity to occur overnight, CH has deleterious effects on sleep, as well as quality of life overall.

Abortive treatment in CH involves the inhalation of high-flow oxygen or use of parenteral triptan medication. The newest abortive therapy is noninvasive vagus nerve stimulation (gammaCore; electroCore, Rockaway, NJ). Preventive treatment, which suppresses attacks during cycles or in chronic CH, has included such medications as verapamil and lithium. The noninvasive vagus nerve stimulation device also can be used in preventive treatment, as can galcanezumab (Emgality; Eli Lilly, Indianapolis, IN), a monoclonal antibody against calcitonin gene-related peptide, for treatment of episodic CH. Transitional treatments in CH are short-term interventions that serve to suppress attack frequency or intensity, shorten cluster cycles, or induce temporary remission in chronic CH. Such treatments include pulse regimens with corticosteroid or dihydroergotamine, or anesthetic nerve blockade of occipital nerves or the sphenopalatine ganglion.

Whereas treatment options in CH have increased in recent years, their use often is limited by poor accessibility, low tolerability, or medical contraindications. Therefore, there is an ongoing need to identify other treatment options for CH. Emerging data suggest that psychedelic drugs possess therapeutic potential and do so in a novel way. In this brief narrative review, we explore the history of psychedelics in headache medicine and the existing evidence on their therapeutic benefits for CH.

Definition of a Psychedelic

In this review, we discuss classic psychedelics, which are a group of 5-hydoxytryptamine (5-HT) 2A receptor agonists that produce acute alterations in sensation, perception, mood, and consciousness. The most well-known classic psychedelics include psilocybin, lysergic acid diethylamide (LSD), N,N-dimethyltryptamine (DMT), and mescaline. Reports of therapeutic benefits of psychedelic drugs exist for several neuropsychiatric disorders, including depression, obsessive-compulsive disorder, and substance use disorders, as well as chronic pain disorders. Unlike conventional medications, psychedelics show long-lasting (ie, months) therapeutic effects after limited dosing (ie, 1 to 3 doses) based on existing clinical reports. However, because of their acute intoxicating effects and associated regulatory concerns, psychedelics are not available for routine clinical use.

Drugs such as ketamine and 3,4-methylenedioxymethamphetamine (MDMA; ecstasy) also produce acute psychedelic-like effects; however, they are not classic psychedelics, because of their distinct pharmacology. Although ketamine has been suggested to have abortive effects in CH,4 the effects do not appear to be long-lasting after limited dosing, as occurs with the classic psychedelics. MDMA does not appear to have beneficial effects in CH. One survey study suggested that MDMA extended the duration of a CH attack.

History of Psychedelics in Headache Medicine

Albert Hofmann, a Swiss chemist, created LSD in 1938 while seeking to identify a bronchoconstrictive and vasoconstrictive medicine. He first discovered the psychedelic effects of LSD in 1943 and later isolated psilocybin from Psilocybe mushrooms. Psychedelics were first investigated as treatments for headache disorders more than 60 years ago. Several medications routinely used in headache management share chemical or pharmacologic properties with psychedelic drugs. For example, triptans, dihydroergotamine (DHE), and methylsergide are all serotonergic compounds that share an indolamine structure with psilocybin, LSD, and DMT.

Scientific inquiry into the effects of psychedelics on CH remains limited, but a global community of people with CH has led the research initiative by sharing their experiences. The first documentation of disease self-management with a psychedelic was reported by an individual with episodic CH in the late 1990s, who posted on a CH website message board (https://clusterheadaches.com) about therapeutic effects after ingestion of LSD (which was taken for recreational purposes). Despite initial resistance, reports of success using LSD and psilocybin mushrooms in CH spread among the CH community. Now, scientists are studying these patient-informed treatment regimens; controlled studies on the safety and therapeutic effects of psychedelics are starting to emerge.

Descriptive Studies

What appears to set psychedelics apart from other headache medicines is their reported ability to produce lasting therapeutic effects after small, limited doses (1 to 3). This is in stark contrast with conventional medications that are dosed daily (sometimes lifelong), and take weeks or months for the desired effects, and maximal effects, to occur. Although psychedelics have also been reported to abort CH attacks,7,8 given the short duration and high frequency of attacks in the disorder, this method of treatment is not practical.

Several descriptive studies have supported the ability of psychedelics to induce and prolong remission periods with limited administration of low doses and subhallucinogenic doses7-11. A small survey of people with CH in 2006 showed that 88% and 52% of respondents found LSD and psilocybin to be effective preventive agents, respectively. A more recent online survey of nearly 500 people with CH showed that psilocybin, LSD, and lysergic acid amide (LSA; a psychedelic found in morning glory seeds) were significantly more effective than verapamil and prednisone in preventing CH attacks. A review of CH survey studies identified consistency among reports of psilocybin and LSD preventive effectiveness. Psilocybin is the most commonly tried psychedelic in these surveys11 and individuals reported dosing from every few weeks to twice annually. Low and subpsychedelic doses of LSD and psilocybin are reported to be used, and in a case series, a nonhallucinogenic congener of LSD, 2-bromo-LSD (BOL-148), was also shown to break a CH cycle, reduce attack frequency and intensity, and induce remission.

Clinical Trials

Some small controlled clinical trials have evaluated the safety and efficacy of psilocybin. Studies of LSD in CH are ongoing or in preparation. The first randomized controlled study of psilocybin in CH13 used a patient-informed, low-dose pulse regimen and demonstrated safety of psilocybin with no unexpected or serious adverse events. The weekly attack frequency was moderately reduced in the experimental group in the first 3 weeks, and this was particularly notable among individuals with chronic CH. The change in attack frequency was not statistically significant (P=.251), likely because of the small sample size. The researchers also observed separation of therapeutic and acute psychotropic effects. An extension phase of this study has completed and will begin to inform on the safety and efficacy of repeating the psilocybin pulse regimen (Psilocybin for the Treatment of Cluster Headache, NCT02981173). A study with an open-label design, EPOCH (Prophylactic Effects of Psilocybin on Chronic Cluster Headache, NCT04280055), investigating the effects of the same low-dose psilocybin pulse in chronic CH showed that the treatment was safe, was well-tolerated, and reduced attack frequency by 30% (P=.008) (Table 2).

The small number of participants in each study limits reliability and generalizability of the findings. Even with ongoing work, differences in dosing regimens and outcomes among studies will limit the consolidation of findings. Larger, more representative trials are required, although there are unique logistic and methodologic challenges associated with both CH and psychedelic trials, including recruitment difficulty because of rarity of the disease, timing of drug administration in episodic cases, and controlling for comorbidities and polypharmacy.

Whereas the acute psychedelic effects are believed to be relevant in the therapeutic use of psychedelics in psychiatric disease, research of psilocybin in CH and migraine has demonstrated that the transitional therapeutic effects are independent of the psychedelic effects.13,15 This along with reports of the use of low and subpsychedelic doses by people with CH7,8 and the therapeutic effects of the nonpsychedelic compound BOL-148 in CH12 urge the consideration of an alternate mechanism of action. Researchers in the open-label EPOCH study performed functional MRI before and after psilocybin administration and found involvement of hypothalamic–diencephalic functional connectivity in treatment response.14 The relationship of treatment response to circadian and sleep systems is also being investigated in the Psilocybin for the Treatment of Cluster Headache clinical trial.

Conclusion

Psychedelics have emerged as a potential therapeutic drug class for CH. Their beneficial effects have been reported for decades, although the existing data from clinical trials are far from conclusive and must be interpreted with caution. Continued research on psychedelics is warranted, particularly as psychedelics may also offer a means to understand the pathogenesis of CH.

https://practicalneurology.com/articles/2023-aug/headache-horizons-the-study-and-use-of-psychedelics-in-cluster-headache

Water toxicity

An Indiana mom of two collapsed and died from water toxicity after drinking too much water in a short period of time, her family says.

Ashley Summers, 35, was near Monticello at Lake Freeman with her husband and two daughters over July 4th weekend when she was hospitalized with brain swelling, Ashley’s brother, Devon Miller, told WRTV.

"Someone said she drank four bottles of water in 20 minutes," Miller said. "I mean, an average water bottle is like 16 ounces, so that was 64 ounces that she drank in a span of 20 minutes. That’s half a gallon. That’s what you’re supposed to drink in a whole day."

The Mayo Clinic says that the daily fluid intake for women should be about 92 ounces, with 20% of daily fluids usually coming from foods.

Summers had said she was feeling dehydrated, lightheaded and had a headache, noting that she felt like she could not drink enough water, her family told the outlet.

The mom of two passed out in a garage and was rushed to a hospital.

Summers, however, never regained consciousness, and doctors said she died of water toxicity, according to the family.

"It was a shock to all of us," Miller said. "When they first started talking about water toxicity. It was like, ‘this is a thing?’"

Hyponatremia, also known as water toxicity, occurs when the concentration of sodium in your blood is abnormally low, according to the Mayo Clinic.

"When this happens, your body's water levels rise, and your cells begin to swell," the clinic says. "This swelling can cause many health problems, from mild to life-threatening."

To prevent hyponatremia, the clinic advises drinking water in moderation and to consider drinking sports beverages that contain electrolytes during endurance activities.

Summers was an organ donor and donated her heart, liver, lungs, kidneys and some of her long bone tissue to help save five other lives, her family said.

https://www.foxnews.com/us/indiana-mom-dies-drinking-too-much-water-family-vacation?dicbo=v2-YR0LCcS

Rangan GK, Dorani N, Zhang MM, Abu-Zarour L, Lau HC, Munt A, Chandra AN, Saravanabavan S, Rangan A, Zhang JQJ, Howell M, Wong AT. Clinical characteristics and outcomes of hyponatraemia associated with oral water intake in adults: a systematic review. BMJ Open. 2021 Dec 9;11(12):e046539. doi: 10.1136/bmjopen-2020-046539. PMID: 34887267; PMCID: PMC8663108.

Abstract

Introduction: Excessive water intake is rarely associated with life-threatening hyponatraemia. The aim of this study was to determine the clinical characteristics and outcomes of hyponatraemia associated with excess water intake.

Methods: This review was conducted using Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. All studies (case reports, observational or interventional studies) reporting excess water intake and hyponatraemia in adults (1946-2019) were included.

Results: A total of 2970 articles were identified and 177 were included (88.7% case reports), consisting of 590 patients. The mean age was 46±16 years (95% CI 44 to 48 years), 47% female, 52% had a chronic psychiatric disorder and 31% had no underlying condition. The median volume of water consumed and serum sodium at presentation was 8 L/day (95% CI 8.9 to 12.2 L/day) and 118 mmol/L (95% CI 116 to 118 mmol/L), respectively. The motivator for increased water consumption was psychogenic polydipsia (55%); iatrogenic (13%); exercise (12%); habitual/dipsogenic polydipsia (7%) and other reasons (13%). The clinical features on presentation were severe in 53% (seizures, coma); moderate in 35% (confusion, vomiting, agitation) and mild in 5% (dizziness, lethargy, cognitive deficit) and not reported in 5% of studies. Treatment was supportive in 41% of studies (fluid restriction, treatment of the underlying cause, emergency care), and isotonic and hypertonic saline was used in 18% and 28% of cases, respectively. Treatment-related complications included osmotic demyelination (3%) and rhabdomyolysis (7%), and death occurred in 13% of cases.

Conclusion: Water intoxication is associated with significant morbidity and mortality and requires daily intake to substantially exceed population-based recommendations. The limitations of this analysis are the low quality and high risk of bias of the included studies.

Bafarat AY, Labban SA, Alhatmi N, Aly H, Bashah DM, Alshaiki F. Hyponatremia-Induced Seizure in a Patient With Psychogenic Polydipsia: A Case Report. Cureus. 2023 Apr 17;15(4):e37710. doi: 10.7759/cureus.37710. PMID: 37206512; PMCID: PMC10191386.

Abstract

Psychogenic polydipsia is a rare condition characterized by overconsumption of water. It can lead to water intoxication, which is potentially a life-threatening situation. Moreover, it usually occurs in patients with mental disorders, mainly schizophrenia. This report discusses a successful treatment of a 16-year-old male with psychogenic polydipsia and delusional disorder presenting to the emergency room with a hyponatremia-induced seizure. After stabilizing the patient, he was referred to a psychologist, and behavioral therapy was conducted. Post-discharge follow-ups revealed that behavioral therapy and the use of self-monitoring technique were effective in controlling the patient's condition. His water intake was reduced from 15 liters per day to three liters per day. This case highlights the importance of psychological assessment for patients with features suggestive of psychogenic polydipsia. It also highlights the need for immediate admission and prompt treatment for such patients as it is a high-risk condition.

COACH syndrome

Inspired by a colleague's patient

Sambharia M, Freese ME, Donato F, Bathla G, Abukhiran IMM, Dantuma MI, Mansilla MA, Thomas CP. Suspected Autosomal Recessive Polycystic Kidney Disease but Cerebellar Vermis Hypoplasia, Oligophrenia Ataxia, Coloboma, and Hepatic Fibrosis (COACH) Syndrome in Retrospect, A Delayed Diagnosis Aided by Genotyping and Reverse Phenotyping: A Case Report and A Review of the Literature. Nephron. 2023 Jan 6:1-9. doi: 10.1159/000527991. Epub ahead of print. PMID: 36617405.

Abstract

The clinical features of cerebellar vermis hypoplasia, oligophrenia, ataxia, coloboma, and hepatic fibrosis (COACH) characterize the rare autosomal recessive multisystem disorder called COACH syndrome. COACH syndrome belongs to the spectrum of Joubert syndrome and related disorders (JSRDs) and liver involvement distinguishes COACH syndrome from the rest of the JSRD spectrum. Developmental delay and oculomotor apraxia occur early but with time, these can improve and may not be readily apparent or no longer need active medical management. Congenital hepatic fibrosis and renal disease, on the other hand, may develop late, and the temporal incongruity in organ system involvement may delay the recognition of COACH syndrome. We present a case of a young adult presenting late to a Renal Genetics Clinic for evaluation of renal cystic disease with congenital hepatic fibrosis, clinically suspected to have autosomal recessive polycystic kidney disease. Following genetic testing, a reevaluation of his medical records from infancy, together with reverse phenotyping and genetic phasing, led to a diagnosis of COACH syndrome.

George A, Cogliati T, Brooks BP. Genetics of syndromic ocular coloboma: CHARGE and COACH syndromes. Exp Eye Res. 2020 Apr;193:107940. doi: 10.1016/j.exer.2020.107940. Epub 2020 Feb 4. PMID: 32032630; PMCID: PMC7310839.

Abstract

Optic fissure closure defects result in uveal coloboma, a potentially blinding condition affecting between 0.5 and 2.6 per 10,000 births that may cause up to 10% of childhood blindness. Uveal coloboma is on a phenotypic continuum with microphthalmia (small eye) and anophthalmia (primordial/no ocular tissue), the so-called MAC spectrum. This review gives a brief overview of the developmental biology behind coloboma and its clinical presentation/spectrum. Special attention will be given to two prominent, syndromic forms of coloboma, namely, CHARGE (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, and Ear anomalies/deafness) and COACH (Cerebellar vermis hypoplasia, Oligophrenia, Ataxia, Coloboma, and Hepatic fibrosis) syndromes. Approaches employed to identify genes involved in optic fissure closure in animal models and recent advances in live imaging of zebrafish eye development are also discussed.

Sanjeev RK, Kapoor S, Goyal M, Kapur R, Gleeson JG. Molar Tooth Sign with Deranged Liver Function Tests: An Indian Case with COACH Syndrome. Case Rep Pediatr. 2015;2015:385910. doi: 10.1155/2015/385910. Epub 2015 May 17. PMID: 26075130; PMCID: PMC4449927.

Abstract

We report the first genetically proven case of COACH syndrome from the Indian subcontinent in a 6-year-old girl who presented with typical features of Joubert syndrome along with hepatic involvement. Mutation analysis revealed compound heterozygous missense mutation in the known gene TMEM67 (also called MKS3).

Brancati F, Iannicelli M, Travaglini L, Mazzotta A, Bertini E, Boltshauser E, D'Arrigo S, Emma F, Fazzi E, Gallizzi R, Gentile M, Loncarevic D, Mejaski-Bosnjak V, Pantaleoni C, Rigoli L, Salpietro CD, Signorini S, Stringini GR, Verloes A, Zabloka D, Dallapiccola B, Gleeson JG, Valente EM; International JSRD Study Group. MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement. Hum Mutat. 2009 Feb;30(2):E432-42. doi: 10.1002/humu.20924. PMID: 19058225; PMCID: PMC2635428.

Abstract

The acronym COACH defines an autosomal recessive condition of Cerebellar vermis hypo/aplasia, Oligophrenia, congenital Ataxia, Coloboma and Hepatic fibrosis. Patients present the "molar tooth sign", a midbrain-hindbrain malformation pathognomonic for Joubert Syndrome (JS) and Related Disorders (JSRDs). The main feature of COACH is congenital hepatic fibrosis (CHF), resulting from malformation of the embryonic ductal plate. CHF is invariably found also in Meckel syndrome (MS), a lethal ciliopathy already found to be allelic with JSRDs at the CEP290 and RPGRIP1L genes. Recently, mutations in the MKS3 gene (approved symbol TMEM67), causative of about 7% MS cases, have been detected in few Meckel-like and pure JS patients. Analysis of MKS3 in 14 COACH families identified mutations in 8 (57%). Features such as colobomas and nephronophthisis were found only in a subset of mutated cases. These data confirm COACH as a distinct JSRD subgroup with core features of JS plus CHF, which major gene is MKS3, and further strengthen gene-phenotype correlates in JSRDs.

Primary amebic meningoencephalitis 7

A high school senior from Georgia has died after becoming infected with what the state’s Department of Health says is a rare "brain-eating amoeba." 

The 17-year-old, named in media reports as Megan Ebenroth, passed away on July 22. 

"I’m still in shock," her mother, identified by the Atlanta Journal-Constitution as Christina Ebenroth, said to the newspaper. "But I can’t keep silent about her. She was extraordinary." 

The newspaper reports that Ebenroth, a straight-A student who had aspirations to go to the University of Georgia, went swimming in a lake with friends near her home in McDuffie County in early July before treatment for a migraine turned into an emergency room visit, hospitalization and intubation. 

"They were so caring, I had the best doctors and nurses. I don’t blame anyone," Christina Ebenroth told the Journal-Constitution. "This was an act of God. Right now, I’ve got to figure out why." 

The Georgia Department of Health, citing medical privacy law, told Fox News Digital on Thursday that it was not releasing the name of the individual after issuing a press release warning the public about the passing of a state resident from a "Naegleria fowleri infection, a rare infection which destroys brain tissue, causing brain swelling and usually death." 

"Naegleria fowleri is an amoeba (single-celled living organism) that lives in soil and warm, freshwater lakes, rivers, ponds, and hot springs," the department said. "Naegleria fowleri is not found in salt water, such as the ocean, and it is not found in properly treated drinking water and swimming pools." 

"Naegleria fowleri is commonly called the ‘brain-eating amoeba’ because it can cause a brain infection, primary amebic meningoencephalitis (PAM), when water containing the amoeba goes up the nose. It cannot infect people if swallowed and is not spread from person to person," added a press release from the agency. "Only about three people in the United States get infected each year, but these infections are usually fatal." 

The department said symptoms of such an infection usually start around day five, beginning with "severe headache, fever, nausea and vomiting and progress to stiff neck, seizures, and coma that can lead to death." 

It concluded by saying that "[t]hough the risk of infection is low, recreational water users should always assume there is a risk when they enter warm fresh water" and that there have been five other cases of Naegleria fowleri reported in Georgia since 1962. 

Ebenroth’s cause of death was ruled as a brain infection, WBJF reports. 

She was the president of her school’s Beta Club and vice president of its Spanish Club, in addition to being a member of her high school’s tennis team, according to the Atlanta Journal-Constitution. 

"We are deeply saddened by the death of THS Senior Megan Ebenroth on Saturday, July 22," Thomson High School said on its Facebook page, adding that "a time of prayer and balloon release" would be held in her memory. 

https://www.foxnews.com/us/georgia-teen-girl-identified-resident-died-brain-eating-amoeba-swimming-lake

Breakthrough ADHD treatment with random noise stimulation and cognitive training

Ornella, DK., Noam, M., Shachar, H. et al. Transcranial random noise stimulation combined with cognitive training for treating ADHD: a randomized, sham-controlled clinical trial. Transl Psychiatry 13, 271 (2023). https://doi.org/10.1038/s41398-023-02547-7

Abstract

Non-invasive brain stimulation has been suggested as a potential treatment for improving symptomology and cognitive deficits in Attention-Deficit/Hyperactivity Disorder (ADHD), the most common childhood neurodevelopmental disorder. Here, we examined whether a novel form of stimulation, high-frequency transcranial random noise stimulation (tRNS), applied with cognitive training (CT), may impact symptoms and neural oscillations in children with ADHD. We conducted a randomized, double-blind, sham-controlled trial in 23 unmedicated children with ADHD, who received either tRNS over the right inferior frontal gyrus (rIFG) and left dorsolateral prefrontal cortex (lDLPFC) or sham stimulation for 2 weeks, combined with CT. tRNS + CT yielded significant clinical improvements (reduced parent-reported ADHD rating-scale scores) following treatment, compared to the control intervention. These improvements did not change significantly at a 3-week follow-up. Moreover, resting state (RS)-EEG periodic beta bandwidth of the extracted peaks was reduced in the experimental compared to control group immediately following treatment, with further reduction at follow-up. A lower aperiodic exponent, which reflects a higher cortical excitation/inhibition (E/I) balance and has been related to cognitive improvement, was seen in the experimental compared to control group. This replicates previous tRNS findings in adults without ADHD but was significant only when using a directional hypothesis. The experimental group further exhibited longer sleep onset latencies and more wake-up times following treatment compared to the control group. No significant group differences were seen in executive functions, nor in reported adverse events. We conclude that tRNS + CT has a lasting clinical effect on ADHD symptoms and on beta activity. These results provide a preliminary direction towards a novel intervention in pediatric ADHD.

Dakwar-Kawar O, Berger I, Barzilay S, Grossman ES, Cohen Kadosh R, Nahum M. Examining the Effect of Transcranial Electrical Stimulation and Cognitive Training on Processing Speed in Pediatric Attention Deficit Hyperactivity Disorder: A Pilot Study. Front Hum Neurosci. 2022 Jul 27;16:791478. doi: 10.3389/fnhum.2022.791478. PMID: 35966992; PMCID: PMC9363890.

Abstract

Objective: Processing Speed (PS), the ability to perceive and react fast to stimuli in the environment, has been shown to be impaired in children with attention deficit hyperactivity disorder (ADHD). However, it is unclear whether PS can be improved following targeted treatments for ADHD. Here we examined potential changes in PS following application of transcranial electric stimulation (tES) combined with cognitive training (CT) in children with ADHD. Specifically, we examined changes in PS in the presence of different conditions of mental fatigue.

Methods: We used a randomized double-blind active-controlled crossover study of 19 unmedicated children with ADHD. Participants received either anodal transcranial direct current stimulation (tDCS) over the left dorsolateral prefrontal cortex (dlPFC) or transcranial random noise stimulation (tRNS), while completing CT, and the administration order was counterbalanced. PS was assessed before and after treatment using the MOXO-CPT, which measures PS in the presence of various conditions of mental fatigue and cognitive load.

Results: tRNS combined with CT yielded larger improvements in PS compared to tDCS combined with CT, mainly under condition of increased mental fatigue. Further improvements in PS were also seen in a 1-week follow up testing.

Conclusion: This study provides initial support for the efficacy of tRNS combined with CT in improving PS in the presence of mental fatigue in pediatric ADHD.

A breakthrough in treating attention-deficit/hyperactivity disorder could “significantly improve” the lives of children with the condition, experts said.

A new study found that brain stimulation combined with cognitive training can improve symptoms of ADHD.

“ADHD is one of the most common neurodevelopmental disorders affecting children across the world,” Ornella Dakwar-Kawar, a post-doctoral researcher at the Hebrew University of Jerusalem, said in a press release.

“Treating the condition with medication improves a child’s attention span and overall mood, however … there can be side effects including headache and a loss of appetite,” Dakwar-Kawar added.

“There is, therefore, a pressing need for developing and testing novel, non-pharmacological interventions for ADHD.”

ADHD symptoms include trouble paying attention, overactivity, and impulsive behaviors, according to the Centers for Disease Control and Prevention.

The CDC estimates that 6 million children in the US ages 3 to 17 have been diagnosed with ADHD.

The condition is usually treated with a combination of behavior therapy and medication.

Researchers at the University of Surrey and the Hebrew University conducted a clinical trial with 23 children ages 6 to 12 who were unmedicated.

The researchers administered a non-invasive brain stimulation with a mild electrical current running through two electrodes.

Cognitive treatment included problem-solving and reading comprehension.

After two weeks, 55% of the children showed significant clinical improvements in their ADHD symptoms, as reported by their parents, in comparison to 17% of children in the control group who received placebo brain stimulation.

The improvements were maintained at three weeks post-trial, with 64% reporting positive effects from the treatment compared to 33% in the control group.

After two weeks, 55% of the children showed significant clinical improvements in their ADHD symptoms, as reported by their parents, in comparison to 17% of children in the control group who received placebo brain stimulation.

The improvements were maintained at three weeks post-trial, with 64% reporting positive effects from the treatment compared to 33% in the control group.

The study, published in the journal Translational Psychiatry, also found that participants had changes in their brain electrical activity patterns, even three weeks after treatment.

“I believe that the scientific community is duty-bound to investigate and develop ever more effective and longer-lasting treatments for ADHD,” said Roi Cohen Kadosh, co-lead of the study and professor of cognitive neuroscience at the University of Surrey.

“The findings we demonstrate in our study suggest that a combination of transcranial direct current stimulation (tRNS), which is shown to be safe with minimal side effects, has the potential to transform the lives of children and their families,” Kadosh added.

“The results from this proof-of-concept study, together with previous results we received using tRNS, increase our confidence that in the future non-invasive brain stimulation may be able to provide an alternative to medication as a treatment pathway for children,” Kadosh continued.

“However, our important test will be the results from a multi-center clinical trial with a larger sample that we will start soon.”

Scientists noted that further research and trials would need to be done to make brain stimulation a practical therapy for children with ADHD.

“This is an important first step in offering new therapeutic options for ADHD. Future studies, with larger and more varied samples, should help establish this as a viable therapy for ADHD, and help us understand the underlying mechanisms of the disorder,” said Dr. Mor Nahum, co-lead of the study and head of the Computerized Neurotherapy Lab at the Hebrew University.

“If the results will be replicated in future larger studies we will be able to offer a novel, promising non-invasive, and safe treatment to large number of children and their families not only in the field of ADHD but in other neurodevelopmental disorders,” said professor Itai Berger, co-lead of the study.

https://nypost.com/2023/08/02/new-adhd-brain-stimulation-treatment-could-transform-lives/

Sperm donation

A sperm donor fathered at least 15 children — without telling parents he's a carrier of a genetic disease causing low IQ and developmental delays

A UK sperm donor has fathered at least 15 kids without fully disclosing he's a carrier of fragile X, court documents say.

The condition can lead to low IQ and developmental and behavioral problems, especially in boys.

The man has been denied contact with some of his kids, and his name is public to protect future parents.

A UK sperm donor who says he's fathered 15 children did not explain to at least some of the mothers he has fragile X syndrome, an incurable genetic disease causing developmental delays and intellectual disability, according to court documents.

The 37-year-old man, James MacDougall, advertised himself as a private sperm donor to lesbian couples on Facebook. His condition would likely bar him from donating through a regulated bank.

Now, MacDougall's application to a family court in Derby, UK, to spend time with some of his children — despite his original agreements of no contact — have been denied. The judge, Justice Nathalie Lieven, said giving MacDougall parental responsibility for his children would cause them harm.

She said that although their original agreement does refer to fragile X syndrome, MacDougall failed to explain it to them and ensure they understood what it meant. MacDougall "took advantage of these young women's vulnerability and their strong desire to have children," Lieven said in the verdict.

The judge also made MacDougall's name public so that future prospective parents will know his history if they Google him. "The usual approach of anonymity in the family courts should not be used as a way for parents to behave in an unacceptable manner and then hide behind the cloak of anonymity," Lieven said.

 
The case involved three moms in their 20s

The case involved three partnered moms in their early 20s, one with two children fathered by MacDougall and two who each had one child with MacDougall's sperm. MacDougall wanted some parental rights for these children, though he seemed content to let the other women who've used his sperm stipulate the terms of their relationship, the court documents state.

The mom of two, called SW, told the court her 3-year-old child fathered by MacDougall is nonverbal and "has challenging behavior," court documents say. The documents illustrate a complicated relationship between the woman and MacDougall, who spent some time with the son and lived with the family during the initial COVID-19 lockdown.

But in June 2020, SW, who has learning difficulties of her own, asked MacDougall to leave, citing inappropriate behavior like making sexual advances and showering with the baby. Soon he was arrested after attacking her, though MacDougall said SW's bruises were likely the result of "playfighting" between her and her new partner. He said SW had used him for money.

The second mom, identified as EG, told the court she did not read the agreement including MacDougall's condition properly.

As for the third mom, KE, MacDougall had already been granted legal access to his biological son, who considered MacDougall his dad. But the toddler had recently suffered "nonaccidental bruises" under his care, court documents state, and the case is adjourned while social services investigates.

MacDougall's parents told the Daily Mail their son is a "victim." They adopted him as an abused baby, they said, and he lives on disability money while volunteering.

"He is kind-hearted and would do anything for anybody, but he is gullible," the mom said. "He just wanted to help those people, help those women in a gay relationship fulfill their dreams and become parents."

Fragile X syndrome can cause life-long impairments

Fragile X syndrome is the most common known cause of intellectual disability, according to the CDC, with about 1 in 7,000 males and 1 in 11,000 females diagnosed.

It tends to be more severe in boys and men: Boys with it have an average IQ under 55, while the average score in the general population is 100. By the time they're adults, 76% of women with the condition can read books with new words or ideas, compared to just 19% of men, the CDC reports.

The condition can cause learning disabilities and cognitive impairment, and kids with it may also have mental health conditions like attention deficit disorder, anxiety, and hyperactivity. About a third of fragile X patients meet criteria of autism spectrum disorder, according to the National Library of Medicine. Some are prone to seizures.

The condition can also lead to distinct physical features, like a long, narrow face, large ears, low muscle tone, and flat feet, according to the Cleveland Clinic. It's not life-threatening, and can be managed with medications and therapy.

Private sperm donation isn't uncommon

Being a carrier of fragile X makes it difficult if not impossible to donate to a sperm bank. At one California clinic, less than 1% of applicants make the cut after providing all their medical records and undergoing testing, US News previously reported.

Advertising sperm through social media means fewer stipulations for the donor, many of whom say they do it to help people build families. MacDougall told the court he originally became a donor to help a friend.

Private sperm donation also means far fewer costs for parents-to-be. One woman, Kayla Ellis, previously told Insider's Julia Naftulin how she and her wife conceived twice with one sperm donor for less than $300 (none of which went to the donor). In contrast, going to a bank for two children with the same biological father can cost about $10,000, the New York Times reported.

Ellis now helps educate others on sperm donation through TikTok. She required potential donors to give STD test results, undergo background checks, and sign a notarized contract for the agreement.

Still, there are legal risks — like the chance that a donor may want custody or a mom may want child support — as well as medical ones, as MacDougall's case shows. Home insemination, the typical mode of conception in these cases, can come with risks too, like cramping and infection.

https://www.insider.com/sperm-donor-fathers-15-kids-without-explaining-genetic-fragile-x-2022-6

_________________________________________________________________

A Maryland woman who was conceived via sperm donation recently took a DNA test and discovered that she has 65 brothers and sisters all over North America.

Brenna Siperko, a 20-year-old who was raised Ellicott City, Maryland, had known for most of her life that she was a sperm donor baby, but only recently found out how many siblings she has through her biological father’s donation.

In January 2022, Siperko took a 23andMe DNA test and found out that she had 13 siblings. Once she discovered them, they connected her to even more individuals who were conceived with the same father.

So far the young woman has discovered she has 65 half-siblings.

She told USA Today she had expected a least a few undiscovered members of her family, saying, "I had always thought I probably have siblings somewhere, or at least a couple since I come from a donor. I took my test and found out from 23andMe."

The discovery of dozens of blood relatives was "exciting" for Siperko, who grew up in an only-child household for much of her life with her mom and her stepdad. Eventually her parents had a son, but that was the extent of her family until she took the DNA test as a young woman.

She has gotten to know several of her newfound half-siblings, finding out that they not only share a biological father, but that many of them are around the same age and share similar interests.

She stated, "I found people my age. It was really exciting because I found people with common interests who I could become close to. They're really easy to talk to."

Siperko described her new family network, which she now engages in a family group chat, as a built-in support group. She told the outlet that whenever she has an issue or is excited to share something, she will text the group and they will give her feedback.

The young woman revealed that she has met at least six half-siblings who live in Maryland, noting that there are more of them in her home state than anywhere else in the country.

Among them is 27-year-old Fabiana, who lives in Baltimore. Siperko said that she and her other siblings look up to Fabiana as a wise older sister who they go to for advice.

"She’s kind of like the mom of the group, I suppose. She gives the best advice," Siperko claimed.

Her other sperm donor siblings are spread out throughout North America, with some living in Canada, Texas, New York, Florida, Michigan, New Jersey and California.

She also remarked that she sees plenty of physical resemblances among her and her newfound siblings.

Siperko stated, "A lot of our eyes are the same. It's like darker, more almond-shaped eyes … If you just put side-by-side pictures, you could definitely see the resemblance, kind of in the face shape, the eyebrows, sometimes the nose."

The young woman added, "It's weird to see myself in other people who I haven't known my whole life."

Though Siperko has been excited to meet her family, there has been controversy surrounding sperm donors and the massive families that can come from their donations.

Donor Sibling Registry co-founder and director Wendy Kramer, who helped connect Shiperko with 38 of her half siblings, mentioned the lack of regulations for donating sperm. Specifically, she claimed that clinic involved in the practice do not have "accurate record-keeping on the children born."

She told USA Today that it's irresponsible for this industry to create so many of these half-sibling families without keeping medical records of each member. Additionally, Kramer argued that clinics need to put a limit on how many children can be had from each donor.

The donor advocate stated, "It's just about a profit for selling sperm with no thought whatsoever given to the human beings they're helping to create."

Kramer also spoke from her own experience having a child via sperm donation, stating, "I used California Cryobank and my son has … half-siblings coast to coast, up and down, even in Puerto Rico. You never know where your half siblings can be."

Fox News Digital reached out to a major sperm bank for response to some of Kramer’s criticisms and is waiting for a response.

https://www.foxnews.com/media/woman-born-via-sperm-donor-finds-she-65-half-siblings-spread-throughout-country