Emergency! Seizure Starting At Kmart, Rushed Home To Safety

Описание: Emergency! Seizure Starting At Kmart, Rushed Home To Safety #22q

Individuals with 22q11.2 Deletion Syndrome (22q) have an increased risk of both provoked and unprovoked seizures, with a lifetime epilepsy prevalence of roughly 5-7%, significantly higher than the general population. Seizures are often linked to hypocalcemia (low calcium), but can also stem from developmental brain anomalies or fever.

Hi welcome to our YouTube Channel Ok Aussie Vlogger. Perth, Western Australia.

Dyan is an Aussie vlogger, vlogging her life's journey with a Genetic 22q11.2 Deletion Syndrome and all the co-existing conditions that come with 22q. I am Matt her hubby and full time carer for you carers, I share my carers experience, tips and helpful things I have discovered along the way.

Dyan Linley Moore is utilising YouTube to share her living journal and wants to connect, advocate and share with her community while also leaving behind a living journal for her family. Dyan has 22q with co-existing conditions
Dystonia
Genetic Seizures
ASD Classic Autism
ADHD
OCD
Tourette's Ehlers-Danlos
ME/CFS
Lyme Disease

22q.11.2 Deletion Syndrome is a life-threatening rare genetic chromosomal disorder. Average age life expectancy is 41. Dyan is a creative, a comedian and a vibrant person who loves life despite the challenges.

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Tonic-clonic (grand mal) seizures are a common neurological manifestation of 22q11.2 deletion syndrome (22qDS), affecting up to 15-20% of patients, with a high incidence in early childhood (median onset ~8 months). These seizures often stem from underlying hypocalcemia (low calcium), structural brain differences, or, less frequently, epilepsy.

Tourette’s syndrome (TS) can occur in individuals with 22q11.2 deletion or duplication syndromes, with cases suggesting a potential link via shared neurobehavioral pathways, such as dopamine dysfunction related to the COMT gene. While better known for heart defects and schizophrenia risk, 22q11.2DS increases susceptibility to movement disorders, including tics and Tourette’s.

Dystonia, a movement disorder causing involuntary muscle contractions, is a recognized neurological feature in 22q11.2 deletion syndrome (22q11.2DS), often presenting as mild, action-related, and associated with lower IQ and higher anxiety. While often mild in children, it can also present in adults as a feature of early-onset Parkinsonism.

Early mortality in 22q11.2 deletion syndrome (22q11.2DS, also known as DiGeorge or Velocardiofacial syndrome) is a significant concern, with increased risk observed in both childhood and adulthood, often due to complex congenital heart disease (CHD) and, in adults, sudden unexplained death.

#22q #autism #seizures #vlog