BLOG 2- Sanfilippo Syndrome

 Let's Recap from Blog One: 

WHAT IS SANFILIPPO SYNDROME? 

Easily described, it's when one has a defect in the genes that make enzymes needed to break down certain heparan sulfate. Heparan Sulfate can be described as: "Heparan sulfate proteoglycans at the cell surface and in the extracellular matrix act as receptors and coreceptors, with profound effects on growth factor action, cell adhesion, and tissue architecture." (Walton, 2024)



  • What are the Symptoms In Sanfilippo Syndrome?
Often being unseen in it's first few years of a child's life, it can cause symptoms such as: Behavioral problems, including hyperactivity.
Coarse facial features with heavy eyebrows that meet in the middle of the face above the nose.
Chronic diarrhea.
Enlarged liver and spleen.
Sleep difficulties.
Stiff joints that may not extend fully.
Vision problems and hearing loss.
Walking problems.
These symptoms are often not seen until the early years of childhood, between the ages of 3-5. Most developmental learning processes of a child's early years are forgotten, and Sanfilippo Syndrome has also been called the "Alzheimer's of Children" (MPS III - National MPS Society, 2024)


How this Disability Effects Development, Behavior, and Cognitive Function


Development
Children with Sanfilippo syndrome often experience early developmental delays. This can include speech delays, and after a period time, of normal development. As the disease progresses, mental abilities and behavior may regress, and children may lose skills they previously developed, such as talking, walking- and by age 10, most children are unable to walk and are usually nonverbal. It typically goes unnoticed during the first few years of life, with most believing they will just "grow out of it" if they do happen to see certain behaviors or delays. (The Early and Later Symptoms of Sanfilippo Syndrome, 2022)




Behavior
Behavioral abnormalities can include hyperactivity, aggression-like behavior, and sleep disorders. 91.5% of children with Sanfilippo syndrome have sleep disturbances according to a questionnaire that was taken at Royal Children’s Hospital in Victoria, Australia.(Fraser et al., 2005) Often, parents are suggested things such as improving their daily activities to wear them out and help them become tired, improving sleeping hygiene, and removing most distractions from their rooms. Most sleep disorders occur in the second stage of Sanfilippo Syndrome, making it very difficult for parents to manage their own schedule as well. Those with Sanfilippo Syndrome are also known to sleep walk and have troubles falling back asleep. (Murphy, 2021) 
Personal videos have been shared recently on social media apps such as Tik Tok, showing that their child will stay up all night and have to sleep in sleep safe beds that help them stay in a safe location during this time of restlessness.



Cognitive function
Sanfilippo syndrome causes progressive damage to the brain. Often misdiagnosed in it's early stages as autism, ADHD, or another cognitive impairment, slowly manifesting into the central nervous system, causing cognitive digression which impairs walking, talking and eventually leading to premature death. (Muschol et al., 2022)











Citations: 
MPS III - National MPS Society. (2024, January 2). National MPS Society. https://mpssociety.org/learn-about-mps/diseases/mps-iii/

Walton, K. (2024, April 29). Exploring the role of heparan sulfate and dopamine as disease modifiers in Sanfilippo. Cure Sanfilippo Foundation | Accelerating discovery of a cure for Sanfilippo Syndrome. https://curesanfilippofoundation.org/2021/10/exploring-the-role-of-heparan-sulfate-and-dopamine-as-disease-modifiers-in-sanfilippo/

The Early and Later Symptoms of Sanfilippo Syndrome. (2022, September 14). Cure Sanfilippo Foundation | Accelerating discovery of a cure for Sanfilippo Syndrome. https://curesanfilippofoundation.org/what-is-sanfilippo/what-are-the-symptoms/

Fraser, J., Gason, A. A., Wraith, J. E., & Delatycki, M. B. (2005). Sleep disturbance in Sanfilippo syndrome: a parental questionnaire study. Archives of Disease in Childhood, 90(12), 1239–1242. https://doi.org/10.1136/adc.2004.065482

Murphy, B. (2021, January 5). How Sleep Hygiene Can Help Sanfilippo Syndrome Patients. Sanfilippo Syndrome News. https://sanfilipponews.com/health-insights/sleep-hygiene-sanfilippo-syndrome-patients/

Muschol, N., Giugliani, R., Jones, S. A., Muenzer, J., Smith, N. J. C., Whitley, C. B., Donnell, M., Drake, E., Elvidge, K., Melton, L., & O’Neill, C. (2022). Sanfilippo syndrome: consensus guidelines for clinical care. Orphanet Journal of Rare Diseases, 17(1). https://doi.org/10.1186/s13023-022-02484-6

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