Thursday, January 27, 2022

External hydrocephalus

The Edery children, after a 7 month court battle, were returned to their parents' home on January 26, 2022.  Courtesy of my daughter.

Bring Our Kids Home

Can you help Mickey?

He's eight months old and needs his Mommy and Tatty.

Just like, your little children need you.

They need the security of your loving smile.

The gentle squeeze of your embrace.

They need you to ensure they are sheltered and safe.

Now journey with a young mom, as she rushes into the ER with Mickey, her precious infant.

He's been crying all day and suddenly went limp.

Your mind is racing with thoughts of the worst.

Your heart is praying for the best.

Mickey goes in for testing.

He has multiple fractured ribs (a misdiagnosis) and bleeding in his brain.

You don't have time to cry because they're transferring him to another hospital.

Through the fog of rushing to the hospital, dealing with doctors, transfers, paperwork and confusion, you suddenly hear three letters that fill your heart with dread.


(Child Protective Services)

Suddenly, they are demanding that his siblings, be brought in for an evaluation. And then they’ll be allowed to go home.

It's 2 AM.

They are scared and screaming. 

Of course, their tests come back fine.

You start to relax, breathing out for the first time in hours.

You look forward to helping them get home to rest from a crazy night.

And then.

CPS barges into the room. 

They give you 15 minutes to find placement for your family. 

And after you do, they hand you papers and ask you to leave the hospital.

Without the kids.

No questions.

No explanations.

Your cries fall on cold, deaf ears.

Security guards and policemen surround you and escort you out like a criminal.

A day later you hear from the hospital.

The Doctor for the hospital is on the phone.

Mickey’s bones aren't broken and his condition is stable.

The resident made a mistake!

He'll be fine.

But the children are already in non-Jewish homes.

Weeks pass.

A top pediatric neurosurgeon reviews the hospital records. 

He calls you in shock. This bleeding doesn't look like abuse.

A prominent pediatric neurologist agrees.

And discovers that Mickey was born with External Hydrocephalus. A benign condition that can sometimes bleed spontaneously. 

He is adamant that there are absolutely no signs of abuse.

"No one is at fault, except for CPS who is abusing this family."

But still, the children are in foster care...

They are getting sick and not being taken to the doctor.

The court hearings are being pushed off.

Visitation is often delayed or canceled.

The toddler isn't allowed to go to daycamp. Or school.

It's been over 95 days.

You are at your wit's end.

What wouldn't you give to hug your children?

And tell them it's ok, they can come home?  

And finally, rock them to sleep at night.

Is there anything you wouldn't do?

There is a team of askanim and lawyers working around the clock.

Legal fees are ballooning.

The doctor walked into the room and took a seat on the lid of a red trash can. Your baby has bleeding in his brain, he told Gabe and Zahava Edery, and there are
broken bones, too.

They were stunned.

It was July 3, 2021, and the Ederys, both 32, had taken their three-month old son Mickey to the hospital that evening after he grew unresponsive following a family trip to synagogue. It was the Sabbath, a family day, and the couple and their three children had spent it together. The baby had rarely left Zahava’s arms.

But the combination of the initial diagnoses — the brain bleed, plus fractured ribs, plus a retinal hemorrhage — made the doctors think the child was a victim of “shaken baby syndrome,” which kills between 1,000 and 3,000 children each year. Child Protective Services got involved, and a social worker directed Gabe to bring their family’s other two children in.

A pediatric abuse specialist went on to classify Mickey’s injuries as potentially stemming from abuse, and all three children were taken from the Edery’s and placed in the foster care system.

Within days, the hospital walked-back the diagnosis of broken bones, saying the only injury was the brain bleed. This weakened the case for abuse, but that didn’t change the state’s response. A cloud of suspicion hung over the Ederys — fueled by questions Zahava asked at the hospital in a moment of panic, among them: “Did we do this?”

Proving that they did not cause Mickey’s injury to the satisfaction of Child Protective Services and an appointed guardian ad litem took seven months. Their twin boys have now spent more of their lives outside their parents’ home than in it. The family took their case to social media, raising about $272,000 from more than 3,000 donors around the country. But the costs were higher — more than $300,000 for lawyers, doctors, psychologists and other expenses.

The Ederys hired four pediatric neurology experts to examine the medical evidence. The doctors concluded that Mickey, a twin born prematurely, had slight head trauma from delivery that caused a fluid buildup inside his skull that ultimately caused the brain bleed.

Without other injuries, it was unclear how abuse could have possibly caused the bleed. If the baby had been punched, there would have been broken bones or extensive bruising. If he had been shaken, there would have been injuries to the ribs, neck or spine. But there was none of that.

A new state law that went into effect in September — two months after Mickey’s injury — was too late to help the Ederys, but it promises new resources to Texas parents who find themselves in a similar predicament in the future.

Under the law, the Ederys would have had the right to demand a second, independent medical opinion outside of the initial abuse finding from the doctor, which could have kept them out of the system entirely, avoiding the months of heartache, uncertainty and expense that started with their children being taken from them.

New law is ‘right direction’ for a slow process.

The law change was prompted by a 2019 investigation by the Houston Chronicle and NBC News of 40 cases in which the conclusions of state child abuse specialists were questioned.

Giving parents and their lawyers the right to request a second opinion is a significant step forward, parent advocates say, but it doesn’t solve all the problems that come from a misdiagnosis.

“The challenge is once the system is involved, it’s pretty much nine months to get back even if you're wrong. I don’t know if I can ever remember a case where somebody recognized after a week they’re wrong,” said state Rep. James Frank, a Wichita Falls Republican who chairs the Human Services Committee that vetted the legislation.

Yet even critics acknowledge that the abuse specialists’ conclusions are likely correct most of the time, particularly when children have suffered extensive unexplained injuries. And in some cases, they help rule out abuse when CPS might otherwise have been suspicious.

Medical groups lobbied hard against the bill in 2019 when it was initially pushed, and failed to pass. It’s their position that doctors who specialize in identifying child abuse based on the child’s medical records are most suited to doing so. CPS is also quick to note that abuse doctors can be helpful to ruling out abuse in cases where children could have been removed in years past.

StillFrank said if they see certain symptoms, like a brain bleed: “They’re a hammer and everything looks like a nail.”

“It’s the mindset that, ‘isn’t it worth it just to save one child?’ and if there's any chance this child is abused, we should remove him. Not recognizing that the very act of removal is a tremendously traumatic experience for a child,” Frank said.

“CPS is not a broken system. The system works a lot of the time in some of the worst situations humans can have. As with most legislation, it moves in the right direction. But as long as you have humans in this situation, you’re always going to have problems.”

Guardian ad-litem blamed for stalling

Once the Ederys were sucked into the cautious bureaucracy, it took herculean efforts for them to get their children back.

They retained a lawyer, Lynne Corsi, who founded and ran the child abuse division within the Dallas County DA’s office and has more than 30 years experience working with child abuse.

“The good part is that this family had a lot of advocacy, the good part is they had resources from their community, that they had attorneys that were diligent. And that they had people that fiercely advocated for them, and that they could afford medical experts. Most people don’t have that,” Corsi said. “And even with all of the resources and the advocacy that they had, it still took a very long time to get a just result for this family.”

A continuous source of the delay was the independent attorney assigned by the court system to protect Mickey, Regina Clark.

She did not respond to repeated attempts from Hearst Newspapers to reach her, but court records and email correspondence show that Clark repeatedly called for delays of weeks or even months at a time — even after the Edery family completed court-ordered parenting classes and psychological evaluations.

For months, Clark delayed efforts to take the kids out of foster care and place them with a family friend of the Ederys. Then she delayed a subsequent effort to get the kids back to their parents. The ad litem refused repeatedly to explain the reason for the delays, other than to say she was concerned that returning the children was “premature,” the correspondence shows.

“From a bureaucracy standpoint, all these people are masters at saying nothing but delaying your case. Giving no substance why anything that’s happening is happening, but the end result is what they want: which is the case moves at the timeline they want, at the steps they want,” Gabe Edery said.

Gabe Edery said it could have taken until July to get the kids home.

But the Dallas District Attorney’s office, which represented the state, stepped in to help expedite the children’s return, batting down Clark’s efforts to push it back into March. “Without a defensible rationale to do so, the Dept. believes it would be an injustice to continue this suit,” an assistant DA wrote in an email.

So on Jan. 26, the whole family waited at their house for their oldest daughter, Eliana, to return from school. Normally when she gets dropped off at the curb, Eliana cuts through the grass toward the front door. That day, for some reason, she ran all the way along the driveway and into her mother’s arms.

“It was this real homecoming. She was all excited,” Zahava Edery said.    Also, courtesy of my daughter.

Scheller J, Wester K. Is external hydrocephalus a possible differential diagnosis when child abuse is suspected? Acta Neurochir (Wien). 2021 Mar 12. doi: 10.1007/s00701-021-04786-3. Epub ahead of print. PMID: 33710381.


Background: Criteria for diagnosing abusive head trauma (AHT) or "shaken baby syndrome" are not well defined; consequently, these conditions might be diagnosed on failing premises.

Methods: The authors have collected a total of 28 infants, from the US (20) and Norway (8), suspected of having been violently shaken, and their caregivers had been suspected, investigated, prosecuted or convicted of having performed this action. Among 26 symptomatic infants, there were 18 boys (69%) and 8 girls (31%)-mean age 5.1 month, without age difference between genders.

Results: Twenty-one of 26 symptomatic children (81%) had a head circumference at or above the 90 percentile, and 18 had a head circumference at or above the 97 percentile. After macrocephaly, seizure was the most frequent initial symptom in 13 (50%) of the symptomatic infants. Seventeen (65%) of the symptomatic infants had bilateral retinal haemorrhages, and two had unilateral retinal haemorrhages. All infants had neuroimaging compatible with chronic subdural haematomas/hygromas as well as radiological characteristics compatible with benign external hydrocephalus (BEH).

Conclusions: BEH with subdural haematomas/hygromas in infants may sometimes be misdiagnosed as abusive head trauma. Based on the authors' experience and findings of the study, the following measures are suggested to avoid this diagnostic pitfall: medical experts in infant abuse cases should be trained in recognising clinical and radiological BEH features, clinicians with neuro-paediatric experience should always be included in the expert teams and reliable information about the head circumference development from birth should always be available.

Wednesday, January 26, 2022

Antiseizure medication withdrawal in seizure-free patients: Practice advisory update summary

Gloss D, Pargeon K, Pack A, Varma J, French JA, Tolchin B, Dlugos DJ, Mikati MA, Harden C; AAN Guideline Subcommittee. Antiseizure Medication Withdrawal in Seizure-Free Patients: Practice Advisory Update Summary: Report of the AAN Guideline Subcommittee. Neurology. 2021 Dec 7;97(23):1072-1081. doi: 10.1212/WNL.0000000000012944. PMID: 34873018.


Objective: To update a 1996 American Academy of Neurology practice parameter.

MethodsThe authors systematically reviewed literature published from January 1991 to March 2020.

Results: The long-term (24-60 months) risk of seizure recurrence is possibly higher among adults who have been seizure-free for 2 years and taper antiseizure medications (ASMs) vs those who do not taper ASMs (15% vs 7% per the 1 Class I article addressing this issue). In pediatric patients, there is probably no significant difference in seizure recurrence between those who begin tapering ASMs after 2 years vs 4 years of seizure freedom, and there is insufficient evidence of significant difference in risk of seizure recurrence between those who taper ASMs after 18 months of seizure freedom and those tapering after 24 months. There is insufficient evidence that the rate of seizure recurrence with ASM withdrawal following epilepsy surgery after 1 year of seizure freedom vs after 4 years is not significantly different than maintaining patients on ASMs. An epileptiform EEG in pediatric patients increases the risk of seizure recurrence. ASM withdrawal possibly does not increase the risk of status epilepticus in adults. In seizure-free adults, ASM weaning possibly does not change quality of life. Withdrawal of ASMs at 25% every 10 days to 2 weeks is probably not significantly different from withdrawal at 25% every 2 months in children who are seizure-free in more than 4 years of follow-up.

Recommendations: Fourteen recommendations were developed.

Cardiac investigations in sudden unexpected death in DEPDC5-related epilepsy

Bacq A, Roussel D, Bonduelle T, Zagaglia S, Maletic M, Ribierre T, Adle-Biassette H, Marchal C, Jennesson M, An I; Genomics England Research Consortium, Picard F, Navarro V, Sisodiya SM, Baulac S. Cardiac Investigations in Sudden Unexpected Death in DEPDC5-Related Epilepsy. Ann Neurol. 2022 Jan;91(1):101-116. doi: 10.1002/ana.26256. Epub 2021 Nov 16. PMID: 34693554.


Objective: Germline loss-of-function mutations in DEPDC5, and in its binding partners (NPRL2/3) of the mammalian target of rapamycin (mTOR) repressor GATOR1 complex, cause focal epilepsies and increase the risk of sudden unexpected death in epilepsy (SUDEP). Here, we asked whether DEPDC5 haploinsufficiency predisposes to primary cardiac defects that could contribute to SUDEP and therefore impact the clinical management of patients at high risk of SUDEP.

Methods: Clinical cardiac investigations were performed in 16 patients with pathogenic variants in DEPDC5, NPRL2, or NPRL3. Two novel Depdc5 mouse strains, a human HA-tagged Depdc5 strain and a Depdc5 heterozygous knockout with a neuron-specific deletion of the second allele (Depdc5c/- ), were generated to investigate the role of Depdc5 in SUDEP and cardiac activity during seizures.

Results: Holter, echocardiographic, and electrocardiographic (ECG) examinations provided no evidence for altered clinical cardiac function in the patient cohort, of whom 3 DEPDC5 patients succumbed to SUDEP and 6 had a family history of SUDEP. There was no cardiac injury at autopsy in a postmortem DEPDC5 SUDEP case. The HA-tagged Depdc5 mouse revealed expression of Depdc5 in the brain, heart, and lungs. Simultaneous electroencephalographic-ECG records on Depdc5c/- mice showed that spontaneous epileptic seizures resulting in a SUDEP-like event are not preceded by cardiac arrhythmia.

Interpretation: Mouse and human data show neither structural nor functional cardiac damage that might underlie a primary contribution to SUDEP in the spectrum of DEPDC5-related epilepsies. 

Thursday, January 20, 2022

The impact of genotype on outcomes in individuals with Duchenne muscular dystrophy

Szabo SM, Gooch KL, Mickle AT, Salhany RM, Connolly AM. The impact of genotype on outcomes in individuals with Duchenne muscular dystrophy: A systematic review. Muscle Nerve. 2021 Dec 8. doi: 10.1002/mus.27463. Epub ahead of print. PMID: 34878187.


Duchenne muscular dystrophy (DMD) is associated with progressive muscle weakness, loss of ambulation (LOA), and early mortality. In this review we have synthesized published data on the clinical course of DMD by genotype. Using a systematic search implemented in Medline and Embase, 53 articles were identified that describe the clinical course of DMD, with pathogenic variants categorizable by exon skip or stop-codon readthrough amenability and outcomes presented by age. Outcomes described included those related to ambulatory, cardiac, pulmonary, or cognitive function. Estimates of the mean (95% confidence interval) age at LOA ranged from 9.1 (8.7-9.6) years among 90 patients amenable to skipping exon 53 to 11.5 (9.5-13.5) years among three patients amenable to skipping exon 8. Although function worsened with age, the impact of genotype was less clear for other outcomes (eg, forced vital capacity and left ventricular ejection fraction). Understanding the distribution of pathogenic variants is important for studies in DMD, as this research suggests major differences in the natural history of disease. In addition, specific details of the use of key medications, including corticosteroids, antisense oligonucleotides, and cardiac medications, should be reported.

Courtesy of:

Monday, January 17, 2022

Adalia Rose Williams and progeria

 Adalia Rose Williams, a 15-year-old YouTuber who was born with a rare genetic disorder called progeria, has died, her family have confirmed. 

In a statement posted to Facebook and Instagram, the family said Rose passed away in the evening of January 12, 2022, and that she had finally been "set free from this world." 

Rose had amassed nearly three million subscribers on her YouTube channel, with which she documented her life and struggles with her condition. 

The family, which had recently moved to San Antonio, Texas, from Austin, said in the statement: "She came into it quietly and left quietly, but her life was far from it. She touched MILLIONS of people and left the biggest imprint in everyone that knew her. She is no longer in pain and is now dancing away to all the music she loves. I really wish this wasn't our reality but unfortunately, it is." 

"We want to say thank you to everyone that loved and supported her. Thank you to all her doctors and nurses that worked for YEARS to keep her healthy. The family would now like to mourn this huge loss in private." 

What Is Progeria? 

Progeria, also known as Hutchinson-Gilford Progeria Syndrome, or HGPS for short, is a very rare genetic disease that essentially causes children to age rapidly. 

Children with the condition appear to be healthy at birth but usually begin to show signs of rapid biological aging within the first two years of their life. 

The condition is very rare, affecting only around one in 20 million people worldwide, according to the Cleveland Clinic. Progeria is equally common in boys as it is in girls. 

The disorder is caused by a mutation in a single gene known as lamin A (LMNA) that makes a protein necessary for holding the center—or nuclei—of cells together. 

When this gene is mutated, it produces an abnormal form of the LMNA protein called progerin, which makes cells unstable and results in the rapid aging seen in progeria. 

There are no known risk factors—environmental, lifestyle, or others—that may increase the risk of having progeria or giving birth to a child with the condition. Unlike many genetic disorders, progeria does not run through families. In fact, the chances of parents having a second child with the condition are around 2-3 percent, according to the Mayo Clinic. 

Signs and symptoms of the condition usually appear in the first year of life, as the child's growth slows significantly, while their motor development and intelligence remains normal. 

The main signs and symptoms of the progressive disorder include: slowed growth leading to below average height and weight; a narrowed face, with a small lower jaw, thin lips and beaked nose; a head that is disproportionately large compared to the face; prominent eyes and inability to completely close the eyelids; hair loss, including eyelashes and eyebrows; thinning, spotty and wrinkled skin; visible veins; and a high-pitched voice. 

The condition is usually accompanied by several health issues, including severe progressive heart and blood vessel disease; hardening and tightening of skin in some parts of the body; abnormal tooth formation; some hearing loss; loss of fat that lies beneath the skin as well as muscle mass; skeletal abnormalities and fragile bones; stiff joints; and hip dislocation. 

The average life expectancy of a child with progeria is around 13 years, according to the Mayo Clinic, although some individuals die younger while others live to around the age of 20. Complications related to cardiovascular issues represent the most common cause of death for people who have progeria. 

There is currently no cure for progeria, although the U.S. Food and Drug Administration approved the first ever treatment for the disease in 2020 that provides some improvement in one or several areas of the condition.