Montréal doctors’ breakthrough discovery about causes of cerebral palsy giving hope

Sienna Zakaria was born with cerebral palsy and a new breakthrough discovery about the causes of the disorder is giving her parents new new hope. CTV Montréal

Matt Gilmour Video journalist, CTV News Montréal March 29, 2024

A breakthrough discovery made by doctors at the Montréal Children’s Hospital about the causes of certain forms of Cerebral Palsy (CP) is giving new hope to one West Island family.

Siena Zakaria is as smiley and playful as any 18-month-old, but at six months, her parents say they started noticing she wasn’t hitting her milestones.

“She wasn’t rolling. She wasn’t able to support her head weight, sort of like a lack of focus,” said her father, Nash Zakaria. “She wasn’t able to concentrate on our voice.”

Doctors determined that she has a form of CP, a developmental disorder that affects her movement.

“Cerebral Palsy is the most common cause of physical disability in childhood, and for the longest time, the prevalent belief was that it was caused by asphyxia at birth,” said Dr. Maryam Oskoui, the head of neurology at the Montréal Children’s Hospital, and the co-author of a ground-breaking study that shows there’s more to the story.

“We looked to see if there was a genetic cause that could explain part of their clinical presentation,” said Oskoui.

In many cases, including Siena’s, a genetic mutation was actually the root cause of the disorder.

“It’s always good to know,” said her father. “It sort of gives you some sort of, I guess, relief. In the end, there’s nothing that can be done about it for now, but we are hopeful that the future holds something positive for us.”

Oskoui said the discovery could open the door to the development of new gene therapies, but there are also short-term benefits, as no two cases of the condition are the same.

“Cerebral Palsy is a spectrum disorder. Absolutely,” said Oskoui. “If you’ve met one child with Cerebral Palsy, you’ve met the one child with Cerebral Palsy.”

How the disorder is treated depends on the individual case and understanding the role genetics are playing will allow for better and more personalized care.

“This is where precision medicine is needed and an individualized approach to what really is impacting their daily life,” said Oskoui.

Already, through physio and occupational therapy, Siena has gained a lot of strength.

“She’s been able to hold her head much better than when she was younger with some minor support,” said Zakaria. “She can sit up like this, but it’s always supported with aid.”

Her parents say it’s comforting to know Siena’s doctors are at the forefront of understanding her condition, but say it’s been a difficult journey so far.

“She’s here, she’s beautiful, she’s happy, she’s smiling,” said her mother, Shana Meo. “It’s the extra worry of not knowing: is she ever going to be able to walk? Is she ever going to be able to speak?”

“Nobody wants to think that their child isn’t perfect,” said Nash. “It has been difficult, but it will continue to be difficult. But family support system, friends, everybody has been there for us. We’re very grateful. We’re thankful. And as I said to us, she’s perfect.”

Source CTV News Montréal


Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy, Fehlings DL, Zarrei M, Engchuan W, Sondheimer N, Thiruvahindrapuram B, MacDonald JR, Higginbotham EJ, Thapa R, Behlim T, Aimola S, Switzer L, Ng P, Wei J, Danthi PS, Pellecchia G, Lamoureux S, Ho K, Pereira SL, de Rijke J, Sung WWL, Mowjoodi A, Howe JL, Nalpathamkalam T, Manshaei R, Ghaffari S, Whitney J, Patel RV, Hamdan O, Shaath R, Trost B, Knights S, Samdup D, McCormick A, Hunt C, Kirton A, Kawamura A, Mesterman R, Gorter JW, Dlamini N, Merico D, Hilali M, Hirschfeld K, Grover K, Bautista NX, Han K, Marshall CR, Yuen RKC, Subbarao P, Azad MB, Turvey SE, Mandhane P, Moraes TJ, Simons E, Maxwell G, Shevell M, Costain G, Michaud JL, Hamdan FF, Gauthier J, Uguen K, Stavropoulos DJ, Wintle RF, Oskoui M, Scherer SW, Nat Genet. 2024 Mar 29. doi: 10.1038/s41588-024-01686-x. Epub ahead of print.

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