Camelia Bhattacharyya, Amity University Kolkata
Marie Curie once said, “Nothing in life is to be feared, it is only to be understood. Now is the time to understand more so that we can fearless.” So why fear any underdevelopment in our body that has already been explained and is studied highly for a proper diagnosis and cure? Let us ask the proper question instead and get better answers to deal with the problem. In the words of Claude Levi-Strauss, “The scientist is not a person who gives the right answers; he is one who asks the right questions”. Well, not just scientists, let us all ask questions instead of categorizing or ill-treating a person with disabilities. Speaking of disability, the Prader-Willi Syndrome (PWS) is something where a person is sexually underdeveloped and has an unusual fair complexion and skin and hair growth, increased appetite as well as lower strengths due to muscle weakness. There are several other symptoms these people face, and this month is thus a month to aware the entire world population about this genetic disorder and the ways of conduct followed by the near and dear ones of a patient.
Most common symptoms seen in patients with Prader-Willi Syndrome (PWS) :
Being a spectrum disorder, there are several limitations to the symptoms shown by the patients; while some might show a specific symptom, the case might be completely or partially different for others. The most common symptoms noted in the patients with PWS are:
- Formation of weak muscles since early childhood,
- Abnormal deposition of the adipose tissue in different parts of the body due to imbalance in the growth hormone (GH),
- Abnormal cognitive behavior,
- Unusual food cravings (hyperphagia) and weight gain due to the same,
- Insomnia,
- Weak communication skills,
- Delayed motor development,
- Picking of the skin thus exposing the internal body to more infection.
With age, these patients might at times develop diabetic conditions, mostly, slowly progressive insulin-dependent diabetes mellitus (SPIDDM). This might also be due to obesity and hyperphagia developed in the PWS patient which leads to dysglycemia and then SPIDDM. At times the patient also develop hypothyroidism which often requires a levothyroxine treatment as prescribed by the doctor. The hypothyroidism in PWS patients is known to be age-dependent; more information and study to prove it are yet on the way.
Biochemistry behind Prader-Willi Syndrome:
The PWS is common in all genders and races. It is caused by an irregular response of the genes present in chromosome 15q11.2-q13 which is inherited paternally. While most patients have the region of the genes deleted, others might inherit two portions of the same gene but from the mother (maternal uniparental disomy), while a rare population of these patients might even go through DNA methylation or gene-silencing in these regions. These together lead to neonatal central hypotonia in infants, which further develops into hyperphagia, obesity, cognitive impairment, diabetic conditions, insomnia, and so on. This thus damages a person’s entire life by making them feel different from the rest of their age group.
Treatments known for the disorder:
The most common treatments include weight management, balanced and proper diet, and sleep management since if the body gets proper and balanced nutrition and ample time to rest and develop, it might epigenetically abolish showing certain phenotypes even after the presence of a particular genotypic character. Treatment for the human growth hormone (HGH) and sex hormones are also done. Various other therapies are also there to improve the cognitive response and communication skills of the patient. Several parents also get screened for the possibility of the PWS when the child is in the mother’s womb because why deliver a child who would have to suffer for something which they are not responsible for? Sometimes, a brain injury might also lead to PWS.
A brief note for those having a PWS patient in their family:
Increased weight and the feeling of being different might affect the child psychologically. This needs to be taken care of because every child is equal, and a disorder can never make a difference or allow somebody to call the other “different”. Therapy and counseling are important and should be prioritized. The child growing up with PWS might show certain changes to their routine, or a drastic change in their cognitive behavior, often leading to aggressive behavior or even illogical thoughts and somatic problems. They do not have control over these; so, it should be us who would cooperate with the child, understand them and try to show patience in order to make ourselves trustworthy in their eyes so that the patient can share whatever is going on in their lives. Remember, we need to fight against the disease not against the patient because at the end of the day, every individual deserves to be loved and understood and the PWS patients are no different from that. At times, caregiving might seem difficult, but guess what, so was it for the first human being to build a stone weapon or the first hut, or rather to get civilized. So, civilization would have never brought us here if we had not tried. Let us thus keep trying to give them a proper life and care, not because it is a difficult challenge to be won, but because we can, and they deserve it.
Medical science is also advancing every day. Who knows, tomorrow might start with the news of a permanent cure to the disorder. Till then, let us be scientific and logical and treat people in that way. Every child or rather every individual needs attention and care. Let us make that happen in this PWS month.
Also read: Understanding the impact of SARS-CoV-2 by studying similar viruses
Reference:
- https://www.fpwr.org/pws-awareness-month
- Tomoda Y, Okauchi Y, Deguchi A, Takenoshita Y, Iwahashi H, Mineo I. Prader-Willi Syndrome with Slowly Progressive Insulin-dependent Diabetes Mellitus. Intern Med. 2021 May 1;60(9):1423-1426. doi: 10.2169/internalmedicine.5267-20. Epub 2020 Nov 30. PMID: 33250457.
- Meade C, Martin R, McCrann A, Lyons J, Meehan J, Hoey H, Roche E. Prader-Willi Syndrome in children: Quality of life and caregiver burden. Acta Paediatr. 2021 May;110(5):1665-1670. doi: 10.1111/apa.15738. Epub 2021 Jan 9. PMID: 33378107.
- Konishi A, Ida S, Shoji Y, Etani Y, Kawai M. Central hypothyroidism improves with age in very young children with Prader-Willi syndrome. Clin Endocrinol (Oxf). 2021 Mar;94(3):384-391. doi: 10.1111/cen.14323. Epub 2020 Dec 3. PMID: 32869320.
- Wong SB, Wang TS, Tsai WH, Tzeng IS, Tsai LP. Parenting stress in families of children with Prader-Willi syndrome. Am J Med Genet A. 2021 Jan;185(1):83-89. doi: 10.1002/ajmg.a.61915. Epub 2020 Oct 12. PMID: 33043996.
- Irizarry KA, Miller M, Freemark M, Haqq AM. Prader Willi Syndrome: Genetics, Metabolomics, Hormonal Function, and New Approaches to Therapy. Adv Pediatr. 2016 Aug;63(1):47-77. doi: 10.1016/j.yapd.2016.04.005. PMID: 27426895; PMCID: PMC4955809.
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