Lucy Illingworth

Lucy is completely blind and has a chromosome 16 duplication, which is a rare condition affecting mental health with autism traits and affecting overall communication. Lucy is hypermobile and suffers with cyclic vomiting syndrome. She is in remission from bilateral retinoblastoma and is globally developmentally delayed.

However, Lucy has an extraordinary talent and it is by using this natural talent, Lucy is able to communicate.

World-renowned, pianist, Lang Lang and pop sensation, Mika crowned 13-year-old Lucy, the ‘unofficial’ winner of the competition with her stunning performance of Debussy’s Arabesque No1, which she performed in front of 2000 people at the Royal Festival Hall.

Lucy was invited to perform at HRH King‘s Coronation Concert at Windsor Castle, where she played a note perfect performance of Bach Prelude in C in front of 18 million people.

https://www.lucythepianist.com/ (videos at link)

Verbesselt J, Breckpot J, Zink I, Swillen A. Language Profiles of School-Age Children With 16p11.2 Copy Number Variants in a Clinically Ascertained Cohort. J Speech Lang Hear Res. 2024 Nov 7;67(11):4487-4503. doi: 10.1044/2024_JSLHR-24-00257. Epub 2024 Oct 17. PMID: 39418585; PMCID: PMC11567083.

Abstract

Purpose: Individuals with proximal 16p11.2 copy number variants (CNVs), either deletions (16p11.2DS) or duplications (16p11.2Dup), are predisposed to neurodevelopmental difficulties and disorders, such as language disorders, intellectual disability, and autism spectrum disorder. The purpose of the current study was to characterize language profiles of school-age children with proximal 16p11.2 CNVs, in relation to the normative sample and unaffected siblings of children with 16p11.2DS.

Method: Standardized language tests were conducted in 33 school-age children with BP4-BP5 16p11.2 CNVs and eight unaffected siblings of children with 16p11.2DS to evaluate language production and comprehension skills across various language domains. A standardized intelligence test was also administered, and parents completed a standardized questionnaire to assess autistic traits. Language profiles were compared across 16p11.2 CNVs and intrafamilial pairs. The influence of nonverbal intelligence and autistic traits on language outcomes was investigated.

Results: No significant differences were found between children with 16p11.2DS and those with 16p11.2Dup, although both groups exhibited significantly poorer language skills compared to the normative sample and unaffected siblings of children with 16p11.2DS. Severe language deficits were identified in 70% of individuals with 16p11.2 CNVs across all language subdomains, with significantly better receptive vocabulary skills than overall receptive language abilities. In children with 16p11.2DS, expressive language deficits were more pronounced than receptive deficits. In contrast, only in children with 16p11.2Dup did nonverbal intelligence influence their language outcomes.

Conclusions: The current study contributes to the deeper understanding of language profiles in 16p11.2 CNVs in a clinically ascertained cohort, indicating generalized deficits across multiple language domains, rather than a syndrome-specific pattern targeting specific subdomains. The findings underscore the importance of early diagnosis, targeted therapy, and monitoring of language skills in children with 16p11.2 CNVs.

Tang D, Chen A, Xu J, Huang Y, Fan J, Wang J, Zhu H, Pi G, Yang L, Xiong F, Luo Z, Li G, Zeng L, Zhu S. Genetic analysis of partial duplication of the long arm of chromosome 16. BMC Med Genomics. 2024 Dec 23;17(1):294. doi: 10.1186/s12920-024-02059-3. PMID: 39716170; PMCID: PMC11667835.

Abstract

Background: Pure partial trisomy 16q12.1q22.1 is a rare chromosome copy number variant (CNV). The primary clinical phenotypes associated with this syndrome include abnormal facial morphology, global developmental delay (GDD), short stature, and reported predisposing factors for atypical behavior, autism, the development of learning disabilities, and neuropsychiatric disorders. The dosage-sensitive genes associated with partial trisomy are not disclosed preventing to establish a genotype-phenotype correlation.

Methods: We report a case of a Chinese patient diagnosed with GDD and an abnormal facial shape, who was found to have partial trisomy 16 through karyotyping and high-throughput sequencing analysis. Karyotype and CNV tracing analyses were also conducted on the biological parents of the patient to assess for any chromosomal structural abnormalities. Additionally, we included 29 patients with pure partial trisomy 16q, reported in the DECIPHER database and the literature. We and performed a genotype-phenotype correlation analysis.

Results: The proband, a 2-year-old female, was found to have a de novo 21.96 Mb duplication located between 16q12.1q22.1, with no other deletions observed on other chromosomes, indicating a pure partial trisomy of 16q. Through genotype and phenotype analysis of 29 individuals, we found that patients with the duplicated region located at the distal region of 16q may exhibit more severe symptoms than those with duplication at the proximal region; however, no relationship was identified between phenotype and the size of the duplicated segment.

Conclusion: We report, for the first time, a patient with partial trisomy 16q validated by multiple genetic tests, including CNV-seq, whole exome sequencing (WES), and karyotyping. It is speculated that partial trisomy of 16q may be associated with continuous gene duplication. However, functional studies are necessary to identify the causative gene or critical region linked to duplication syndrome of chromosome 16q.

Hyperbaric oxygen for sleep apnea and attention-deficit/hyperactivity disorder

Boy, 5, dies after oxygen therapy chamber explodes

A curious, energetic, smart, outgoing and thoughtful little boy.

That’s how family, friends and teachers say they will remember 5-year-old Thomas Cooper who tragically died inside a hyperbaric chamber at a medical facility in Troy, Michigan, last month.

The descriptions form part of a heartfelt obituary written about Cooper ahead of a memorial visitation held on Thursday, about two weeks after he died. 

Cooper was receiving treatment inside a chamber, a pressurized container containing 100% oxygen, when it suddenly exploded at The Oxford Center at 165 Kirts Blvd.

Thomas Cooper died when the chamber he was inside exploded in Michigan

Police and fire officials said he was dead inside the chamber when they arrived on the scene, while his mother Annie, who was also inside the room, suffered injuries to her arm.

Cooper, who was in preschool, was always on the move and loved looking out for his younger brother, who was his best friend, according to the obituary.

"His favorite thing to do was play Minecraft on his Nintendo Switch, as he loved to show his Mommy and Daddy the things he could create," the tribute reads.

"His favorite activities were running, jumping, rolling and stomping … He wanted to grow up to be a chef because that meant he could ‘cook with Mommy and Daddy and stay with them forever.’"

The boy was receiving treatment for sleep apnea and attention-deficit/hyperactivity disorder at the Oxford Center, James Harrington, an attorney for the family told NBC Washington. 

The chambers are used to provide Hyperbaric oxygen therapy (HBOT) and a typical chamber can hold one person. It requires the patient to lie down in the tube-shaped device that looks like an MRI machine and breathe the oxygen. A hyperbaric chamber contains up to three times the amount of oxygen than a normal room.

Harrington said the boy’s parents were hopeful the services would improve his quality of life. 

"This wasn’t some type of lifesaving measure that was absolutely needed," Harrington told the outlet. "It was just a mother who was trying to help her son with some conditions that he had and was promised that with these conditions and this treatment, that they would be able to help."

"Annie was trying to help her child as any parent would — as good parents do."

Harrington, who is a managing partner of Fieger Law in Southfield, Michigan, said the boy had received multiple sessions of hyperbaric oxygen therapy at the center before tragedy struck.

It’s unclear what caused the chamber to explode. The family intends on filing a lawsuit to prevent a similar incident from taking place again, Harrington said, adding that the boy’s parents are "absolutely devastated."

The obituary also mentions that Cooper loved to make art and was constantly curious about the world around him and liked to know how things worked.

"At night, he liked to listen to audiobooks as he tried to go to sleep, with some of his favorites being Yoto Daily, Charlie and the Chocolate Factory, and James and the Giant Peach," the obituary reads.

As well as being used to tackle sleep apnea and attention-deficit/hyperactivity disorder, the devices are also used to treat a variety of other health problems, including carbon monoxide poisoning, diabetic foot ulcers, anemia, infection of the skin and bone and vision loss.

Such devices require FDA clearance to ensure that they are approved to be used as intended and are safe and effective.

HBOY is also well known for treating scuba and deep-sea divers affected by the rapid change in pressure around them, according to the FDA. 

In a statement to the Detroit Free Press immediately after the incident, The Oxford Center spokesperson Andrew Kistner wrote that the cause of the explosion is unknown.

"As law enforcement officials have shared, at our location in Troy, Michigan this morning, a fire started inside of a hyperbaric oxygen chamber. The child being treated in that chamber did not survive and the child’s mother was injured," the statement reads.

"The safety and wellbeing of the children we serve is our highest priority. Nothing like this has happened in our more than 15 years of providing this type of therapy. We… will participate in all of the investigations that now need to take place."

The location is temporarily closed while authorities investigate the deadly incident, NBC Washington reported. No charges have been filed, per the outlet citing police. 

In May 2009, an explosion of a pressurized oxygen chamber killed a 4-year-old and his 62-year-old grandmother. Authorities said a blast dislodged a tube attached to the hyperbaric chamber, which resulted in an explosion and flash fire, according to CBS.

https://www.foxnews.com/us/boy-killed-hyperbaric-oxygen-chamber-remembered-curious-energetic-smart-family-intends-sue

Suztrigine for the treatment of adults with moderate-to-severe acute pain

Journavx (suzetrigine; Vertex Pharmaceuticals, Boston, MA) has received approval from the Food and Drug Administration (FDA) for the treatment of adults with moderate-to-severe acute pain. Journavx is an oral, non-opioid, selective inhibitor of Nav1.8, which is a voltage-gated sodium channel that plays a role in pain signaling in the peripheral nervous system. According to a statement from the FDA, Journavx represents the first approval in a new class of non-opioid medicines for pain management.

The approval is based on positive data from 2 phase 3 studies evaluating the safety and efficacy of Journavx treatment for acute pain after bunionectomy and abdominoplasty. The primary outcome measures were time-weighted sum of the pain intensity difference from 0 to 48 hours (SPID48) and clinically meaningful reductions in pain from baseline at 48 hours, according to the Numeric Pain Rating Scale (NPRS).For participants who received bunionectomy, the least squares mean difference in SPID48 was 29.3 for Journavx vs placebo (95% CI, 14.0 to 44.6; P=.0002).
For abdominoplasty, the least squares mean difference was 48.4 for Journavx vs placebo (95% CI, 33.6 to 63.1; P<.0001).
Journavx was associated with more rapid onset to meaningful pain relief vs placebo, as defined by a ≥2-point reduction in NPRS from baseline.

“Today’s approval is an important public health milestone in acute pain management,” said Jacqueline Corrigan-Curay, JD, MD, Acting Director of the FDA's Center for Drug Evaluation and Research. “A new non-opioid analgesic therapeutic class for acute pain offers an opportunity to mitigate certain risks associated with using an opioid for pain and provides patients with another treatment option.”

In addition to pooled data from the bunionectomy and abdominoplasty studies, the safety profile for Journavx was supported by data from a single-arm phase 3 (NCT05661734) study in participants who received treatment for surgical and nonsurgical pain. The most common adverse events were itching, muscle spasms, increased levels of creatine phosphokinase in the blood, and rash. The medicine is contraindicated for concomitant use with strong CYP3A inhibitors.

https://practicalneurology.com/news/journavx-a-non-opioid-nav18-inhibitor-for-pain-management-approved-by-the-fda