Sanfilippo Syndrome
By: Savia Saffo
What is Sanfilippo Syndrome
Mucopolysaccharidosis Type III (MPS III), another name for Sanfilippo Syndrome, is an uncommon genetic condition that mostly affects young people. Severe neurological symptoms are caused by the body's incapacity to break down certain sugars known as glycosaminoglycans (GAGs) (Wagner, 2019).
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Historical and Contemporary Overview
It was Dr. Sylvester Sanfilippo who originally described Sanfilippo Syndrome in the early 1960s. In the past, many children with this disease did not live until adolescence due to a dismal prognosis (Sanfilippo Foundation, 2023). Early studies focused on determining the disease's genetic alterations and biochemical foundations. Most of the treatments were palliative in nature, to control symptoms as opposed to treating the underlying cause. Significant progress has been made in the modern era in comprehending and treating Sanfilippo Syndrome. Four subtypes of the condition have been found by research (A, B, C, and D), and each is linked to a distinct deficiency of an enzyme (Bajwa, 2023). Genetic testing is one of the modern diagnostic tools that has enhanced early detection. There is currently promise for more effective interventions through the exploration of experimental treatments including gene therapy and enzyme replacement therapy.
Stereotypes and Thinking
In the past, people with Sanfilippo Syndrome and related conditions were frequently misdiagnosed and stigmatized. They were portrayed by stereotypes as "incurable" and "burdensome," which exacerbated their social exclusion and reduced prospects for societal integration (Hoffmann et al., 2020). The disorder was not well understood or recognized, which contributed to these misconceptions. There has been a slow change in the perception of Sanfilippo Syndrome in recent years. Public opinion has changed significantly thanks in large part to advocacy organizations and awareness initiatives. The story has changed to portray people with Sanfilippo Syndrome as strong, capable people who should be included and supported. Progress in medical science has additionally contributed to debunking misconceptions regarding the illness's incurability, cultivating a more sanguine perspective for impacted households.
Cultural Viewpoints
The way that Sanfilippo Syndrome is seen culturally varies greatly among societies. Certain cultures have a medical perspective on disability, emphasizing the need for care and treatment. This viewpoint has the potential to produce both constructive support networks and detrimental perceptions of people as "patients" as opposed to individuals with a range of capacities (Kumar et al., 2024). Sanfilippo Syndrome and other disabilities may be seen via social or religious prisms in other cultures. To further compound stigma and discrimination, many civilizations may see the condition as a litmus test or a cause of shame within the family. On the other hand, there exist societies where a strong sense of community and familial support exists for people with disabilities, creating a welcoming and inclusive atmosphere. It is difficult to overestimate the importance of campaigning and education in influencing cultural attitudes. Advances have been made in raising awareness and acceptance of Sanfilippo Syndrome both locally and globally. Through the sharing of individual narratives and accomplishments of individuals impacted, these programs aim to dispel antiquated misconceptions and promote a more sophisticated and empathetic understanding of disability.
Early Symptoms:
Developmental Delay: Children may meet developmental milestones at first, but subsequently their speech and motor skills may stall out or even regress.
Behavioral Issues: Typical early symptoms include hyperactivity, aggressive behavior, and sleep difficulties (Boston Children’s Hospital, 2023).
Recurrent Infections: It is common to see sinusitis, lung infections, and recurrent ear infections.
Intermittent Symptoms:
Cognitive Decline: There is an increasing marked decline in cognitive abilities and intellectual degeneration.
Speech and Communication Problems: Progressive loss of language and speech skills (Boston Children’s Hospital, 2023).
Motor Abilities Deterioration: Problems with movement and coordination, which frequently result in losing the ability to walk (Boston Children’s Hospital, 2023).
Symptoms that appear later-
Severe Neurological Impairments: Significant neurological deficiencies accompanied by a profound intellectual handicap. Frequency and intensity of seizures have increased.
Decline in Physical Health: Swallowing difficulties, heightened vulnerability to infections, and reduced mobility.
Affected Factors for Prognosis:
Subtype: Sanfilippo Syndrome Type A usually has the fastest onset of symptoms and is the most severe. Though they could progress a little more slowly, types B, C, and D eventually produce results that are comparable (Baby, 2022).
Early Intervention: Supportive therapies (including physical, occupational, and speech therapy) can assist manage symptoms and enhance quality of life even though there is no known cure.
Trial Medicines: There is hope for improved prognoses in the future thanks to research into gene therapy, enzyme replacement therapy, and other experimental treatments. These therapies aren't generally accessible now and are still in the experimental stages.
References
Baby, D. P. (2022, April 20). Sanfilippo syndrome: Symptoms, treatment, and diagnosis. WebMD. https://www.webmd.com/children/what-is-sanfilippo-syndrome
Bajwa, H. (2023, March 6). Niemann-Pick disease. StatPearls [Internet]. https://www.ncbi.nlm.nih.gov/books/NBK556129/
Boston Children’s Hospital. (2023). Sanfilippo syndrome. Sanfilippo Syndrome | Boston Children’s Hospital. https://www.childrenshospital.org/conditions/sanfilippo-syndrome
Hoffmann, F., Hoffmann, S., Kunzmann, K., & Ries, M. (2020). Challenging behavior in mucopolysaccharidoses types I-III and day-to-day coping strategies: a cross sectional explorative study. Orphanet journal of rare diseases, 15(1), 275. https://doi.org/10.1186/s13023-020-01548-9
Kumar, V., Pavitra, K. S., & Bhattacharya, R. (2024). Creative pursuits for mental health and well-being. Indian journal of psychiatry, 66(Suppl 2), S283–S303. https://doi.org/10.4103/indianjpsychiatry.indianjpsychiatry_781_23
Sanfilippo Foundation. (2023, December 12). What is Sanfilippo Syndrome: Cure sanfilippo foundation. Cure Sanfilippo Foundation | Accelerating discovery of a cure for Sanfilippo Syndrome. https://curesanfilippofoundation.org/what-is-sanfilippo/#:~:text=Sanfilippo%20is%20named%20for%20Dr,of%20the%20American%20Pediatrics%20Society.
Wagner, V. F. (2019, September 19). Mucopolysaccharidosis type III. GeneReviews® [Internet]. https://www.ncbi.nlm.nih.gov/books/NBK546574/
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