Please ensure Javascript is enabled for purposes of website accessibility
ORIGINAL PAPER
Paramedics’ knowledge of the symptoms and prehospital care of patients with Prader-Willi and Angelman syndromes
 
More details
Hide details
1
Department of Medical Biology, Faculty of Health Sciences, Medical University of Warsaw, Warsaw, Poland
 
2
Department of Interdisciplinary Research in Social Inclusion, Institute of Special Education, The Maria Grzegorzewska University, Warszawa, Poland
 
 
Submission date: 2025-09-22
 
 
Final revision date: 2025-10-07
 
 
Acceptance date: 2025-10-10
 
 
Online publication date: 2025-12-11
 
 
Publication date: 2026-06-29
 
 
Corresponding author
Sylwia Jarzynka   

Department of Medical Biology Faculty of Health Sciences Medical University of Warsaw 14/16 Litewska Street 00-575 Warsaw, Poland
 
 
Medical Studies 2026;42(2):249-262
 
KEYWORDS
TOPICS
ABSTRACT
Introduction:
Rare genetic disorders are conditions in which the emergency medical team’s knowledge of characteristic clinical and phenotypic symptoms can significantly improve the quality of the provided medical care.

Aim of the research:
This study focuses on assessing paramedics’ knowledge of characteristic symptoms that may influence the emergency procedures in patients with rare Prader-Willi and Angelman genetic syndromes. This topic was chosen due to the lack of guidelines for emergency care of patients with genetic disorders, posing a major challenge in medical practice.

Material and methods:
The survey was conducted among 100 paramedics. The research took place at the Medical University of Warsaw in Poland. An author`s survey questionnaire consisting of closed-ended single-choice and multiple-choice questions was used. Statistical analyses were performed using descriptive statistics and correlation analysis

Results:
Paramedics’ overall knowledge of Prader-Willi and Angelman syndromes and related emergency procedures was low (around the 50th percentile in knowledge score statistics), and the results indicated a statistically significant deviation from the normal distribution (Shapiro-Wilk test, p < 0.001). Individuals of varying ages, work experience, workplace settings, educational backgrounds, and genders did not differ in their knowledge of the symptoms and emergency procedures related to these selected genetic disorders (Spearman’s rank correlation, Mann-Whitney U test, Kruskal-Wallis test). The rising prevalence of genetic disorders highlights the growing need to address this issue in training and practice.

Conclusions:
There is a need for education and continuous professional training for paramedics regarding general knowledge and emergency medical procedures for individuals with Prader-Willi syndrome and Angelman syndrome as rare genetic disorders.
REFERENCES (51)
1.
Angulo MA, Butler MG, Cataletto ME. Prader-Willi syndrome: a review of clinical, genetic, and endocrine findings. J Endocrinol Invest. 2015; 38: 1249-1263.
 
2.
Cabała M, Śmigiel R. Prader-Willi syndrome – a phenotype in the past and now. The importance of early diagnosis. Pol J Paediatr. 2018; 93(3): 264-269.
 
3.
Xia NY, Grant ML, Benjamin NL, Valencia I. Quality of life in angelman syndrome: a caregivers’ survey. Pediatr Neurol. 2023; 149: 19-25.
 
4.
Butler MG, Manzardo AM, Heinemann J, Loker C, Loker J. Causes of death in Prader-Willi syndrome: Prader-Willi Syndrome Association (USA) 40-year mortality survey. Genet Med. 2017; 19: 635-642.
 
5.
Khan MJ, Gerasimidis K, Edwards CA, Shaikh MG. Mechanisms of obesity in Prader-Willi syndrome. Pediatr Obes. 2018; 13: 3-13.
 
6.
Sanjeeva GN, Maganthi M, Kodishala H, Marol RKR, Kulshreshtha PS, Lorenzetto E, Kadandale JS, Hladnik U, Raghupathy P, Bhat M. Clinical and molecular characterization of Prader-Willi syndrome. Indian J Pediatr. 2017; 84(11): 815-821.
 
7.
Wheeler AC, Sacco P, Cabo R. Unmet clinical needs and burden in Angelman syndrome: a review of the literature. Orphanet J Rare Dis. 2017; 12(1): 164.
 
8.
Bird LM. Angelman syndrome: review of clinical and molecular aspects. Appl Clin Genet. 2014; 7: 93-104.
 
9.
Keute M, Miller MT, Krishnan ML, Sadhwani A, Chamberlain S, Thibert RL, Tan WH, Bird LM, Hipp JF. Angelman syndrome genotypes manifest varying degrees of clinical severity and developmental impairment. Mol Psychiatry. 2021; 26(7): 3625-3633.
 
10.
Margolis SS, Sell GL, Zbinden MA, Bird LM. Angelman syndrome. Neurotherapeutics. 2015; 12(3): 641-650.
 
11.
Samanta D. Epilepsy in Angelman syndrome: a scoping review. Brain Dev. 2021; 43: 32-44.
 
12.
Gucwa JO, Ostrowski M. Zaawansowane zabiegi resuscytacyjne i wybrane stany nagłe. Medycyna Praktyczna 2023:.
 
13.
Pearson E, Wilde L, Heald M, Royston R, Oliver C. Communication in Angelman syndrome: a scoping review. Dev Med Child Neurol. 2019; 61(11): 1266-1274.
 
14.
Roche L, Sigafoos J, Trembath D. Augmentative and alternative communication intervention for people with Angelman syndrome: a systematic review. Curr Develop Disord Rep. 2020; 7(1): 28-34.
 
15.
Bonnot O, Cohen D, Thuilleaux D, Consoli A, Cabal S, Tauber M. Psychotropic treatments in Prader-Willi syndrome: a critical review of published literature. Eur J Pediatr. 2016; 175(1): 9-18.
 
16.
Fernández-Lafitte M, Cobo J, Coronas R, Parra I, Oliva JC, Àlvarez A, Esteba-Castillo S, Giménez-Palop O, Palao DJ, Caixàs A. Social responsiveness and psychosocial functioning in adults with Prader-Willi syndrome. J Clin Med. 2022; 11(5): 1433.
 
17.
Schwartz L, Caixàs A, Dimitropoulos A, Dykens E, Duis J, Einfeld S, Gallagher L, Holland A, Rice L, Roof E, Salehi P, Strong T, Taylor B, Woodcock K. Behavioral features in Prader-Willi syndrome (PWS): consensus paper from the International PWS Clinical Trial Consortium. J Neurodev Disord. 2021; 13(1): 25.
 
18.
Alson RL, Han K, Campbell JE. International Trauma Life Support. Ratownictwo przedszpitalne w urazach. Medycyna Praktyczna 2022.
 
19.
Kupczak-Wiśniowska B, Borgosz J, Podsiadło B, Serzysko B, Jędrkiewicz E. Obesity in children – a problem of the contemporary civilization. Pielegniarstwo XXI w. 2017; 16(1): 44-50.
 
20.
Olszanecka A, Chrostowska M, Litwin M, Obrycki Ł, Ostalska-Nowicka D, Niklas A, Nieszporek T, Tykarski A. Nadciśnienie tętnicze u młodych dorosłych. Stanowisko Polskiego Towarzystwa Nadciśnienia Tętniczego. Nadciśnienie Tętnicze w Praktyce. 2022; 8(3): 109-138.
 
21.
Góralska M, Bednarczuk T, Rosłon M, Libura M, Szalecki M, Hilczer M, Stawerska R, Smyczyńska J, Karbownik-Lewińska M, Walczak M, Lewiński A. Management of Prader-Willi Syndrome (PWS) in adults – what an endocrinologist needs to know. Recommendations of the Polish Society of Endocrinology and the Polish Society of Paediatric Endocrinology and Diabetology. Endokrynol Pol. 2018; 69(4): 345-355.
 
22.
Olasveengen TM, Semeraro F, Ristagno G, Castren M, Handley A, Kuzovlev A, Monsieurs KG, Raffay V, Smyth M, Soar J, Svavarsdottir H, Perkins GD. European Resuscitation Council Guidelines 2021: Basic Life Support. Resuscitation. 2021; 161: 98-114.
 
23.
Olczak-Kowalczyk D, Korporowicz E, Gozdowski D, Lecka-Ambroziak A, Szalecki M. Oral findings in children and adolescents with Prader-Willi syndrome. Clin Oral Investig. 2019; 23: 1331-1339.
 
24.
Piekoszewska-Ziętek P, Witt-Porczyk A, Turska-Szybka A, Olczak-Kowalczyk D. Hygienic behaviors and use of dental care in patients with genetic syndromes. Sci Rep. 2024; 14: 30756.
 
25.
Duis J, Nespeca M, Summers J, Bird L, Bindels-de Heus K, Valstar MJ, de Wit MY, Navis C, Ten Hooven-Radstaake M, van Iperen-Kolk BM, Ernst S, Dendrinos M, Katz T, Diaz-Medina G, Katyayan A, Nangia S, Thibert R, Glaze D, Keary C, Pelc K, Simon N, Sadhwani A, Heussler H, Wheeler A, Woeber C, DeRamus M, Thomas A, Kertcher E, DeValk L, Kalemeris K, Arps K, Baym C, Harris N, Gorham JP, Bohnsack BL, Chambers RC, Harris S, Chambers HG, Okoniewski K, Jalazo ER, Berent A, Bacino CA, Williams C, Anderson A. A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome. Mol Genet Genomic Med. 2022; 10(3): e1843.
 
26.
Angelman Syndrome Foundation. Seizure Treatment Guidelines. 2024 [cited 2025 July 16]; Available from: https://angelman.org/wp-conten...- Treatment-Guidelines_Nov2024.pdf.
 
27.
Worden L, Grocott O, Tourjee A, Chan F, Thibert R. Diazepam for outpatient treatment of nonconvulsive status epilepticus in pediatric patients with Angelman syndrome. Epilepsy Behav. 2018; 82: 74-80.
 
28.
Kienitz R, Kay L, Beuchat I, Gelhard S, von Brauchitsch S, Mann C, Lucaciu A, Schäfer JH, Siebenbrodt K, Zöllner JP, Schubert-Bast S, Rosenow F, Strzelczyk A, Willems LM. Benzodiazepines in the management of seizures and status epilepticus: a review of routes of delivery, pharmacokinetics, efficacy, and tolerability. CNS Drugs. 2022; 36(9): 951-975.
 
29.
Glauser T, Shinnar S, Gloss D, Alldredge B, Arya R, Bainbridge J, Bare M, Bleck T, Dodson WE, Garrity L, Jagoda A, Lowenstein D, Pellock J, Riviello J, Sloan E, Treiman DM. Evidence-based guideline: treatment of convulsive status epilepticus in children and adults: report of the guideline Committee of the American Epilepsy Society. Epilepsy Curr. 2016; 16(1): 48-61.
 
30.
Vossler DG, Bainbridge JL, Boggs JG, Novotny EJ, Loddenkemper T, Faught E, Amengual-Gual M, Fischer SN, Gloss DS, Olson DM, Towne AR, Naritoku D, Welty TE. Treatment of refractory convulsive status epilepticus: a comprehensive review by the American Epilepsy Society Treatments Committee. Epilepsy Curr. 2020; 20: 245-64.
 
31.
Abate MV, Barisic I, Santoro M, Coi A, Tan J, Garne E, Loane M, Odak L, Ballardini E, Cavero-Carbonell C, Gatt M, Gissler M, Jordan S, Klungsøyr K, Monier I, Wellesley DG, Morris JK. Health outcomes of children with Prader-Willi or Angelman syndromes: a European population-based multicentre study. Arch Dis Child. 2025; 110(1): 899-904.
 
32.
Pollack SF, Grocott OR, Parkin KA, Larson AM, Thibert RL. Myoclonus in Angelman syndrome. Epilepsy Behav. 2018; 82: 170-174.
 
33.
Montenegro MA, Vincentiis S, Valente KD. Epilepsy associated with chromosomal disorders. Epilepsy Behav. 2025; 167: 110360.
 
34.
Bridges WA, Temples HS, Lowe TB. Angelman syndrome: multidisciplinary management. J Pediatr Health Care. 2025; 39(6): 968-975.
 
35.
Schwartz L, Vrana-Diaz CJ, Bohonowych JE, Matesevac L, Strong TV. Life satisfaction, global health and mood in Prader-Willi syndrome: use of PROMIS and Glasgow Depression Scales. J Appl Res Intellect Disabil. 2025; 38(2): e70053.
 
36.
Giesecke J, Oskarsson A, Petersson M, Nordenvall AS, Tettamanti G, Nordgren A, Höybye C. Comorbidities, endocrine medications, and mortality in Prader-Willi syndrome-a Swedish Register Study. J Clin Med 2025; 14(4): 1307.
 
37.
International Prader-Willi Syndrome Organisation. Adults with Prader-Willi syndrome. Medical care: Overview. Medical care: Evaluation. 2018 [cited 2025 July 16]; Available from: https://ipwso.org/wp-content/u....
 
38.
Presti S, Pavone M, Verrillo E, Paglietti MG, Del Colle A, Leonardi S, Cutrera R. Long term ventilation in pediatric central apnea: etiologies and therapeutic approach over a decade. Pediatr Pulmonol. 2025; 60(1): e27400.
 
39.
Shoffstall AJ, Gaebler JA, Kreher NC, Niecko T, Douglas D, Strong TV, Miller JL, Stafford DE, Butler MG. The high direct medical costs of Prader-Willi syndrome. J Pediatr. 2016; 175: 137-143.
 
40.
Jarvis J, Chertavian E, Buessing M, Renteria T, Tu L, Hoffer L, Fischer R, Moore A, Cross M, Tones M. The economic impact of caregiving for individuals with Angelman syndrome in the United States: results from a caregiver survey. Orphanet J Rare Dis. 2025; 20(1): 82.
 
41.
Sinnema M, Maaskant MA, van Schrojenstein Lantman-de Valk HM, Boer H, Curfs LM, Schrander-Stumpel CT. The use of medical care and the prevalence of serious illness in an adult Prader-Willi syndrome cohort. Eur J Med Genet. 2013; 56(8): 397-403.
 
42.
Walkowiak D, Domaradzki J. Caregiving burden and quality of life among parents of individuals with angelman syndrome: gender differences and the impact of financial well-being. Pediatr Neurol. 2025; 169: 31-39.
 
43.
Beacon: for rare diseases. Prader-Willi Syndrome: My experience as a carer, a geneticist and a medical student. 2024 [cited 2025 July 16]; Available from: https://www.rarebeacon.org/blo....
 
44.
Suleja A, Milska-Musa K, Przysło Ł, Bednarczyk M, Kostecki M, Cysewski D, Matryba P, Rozensztrauch A, Dwornik M, Opacki M, Śmigiel R, Łukasiewicz K. Angelman syndrome in Poland: current diagnosis and therapy status-the caregiver perspective: a questionnaire study. Orphanet J Rare Dis. 2024; 19(1): 306.
 
45.
Rawlinson M, Castro-Kemp S. ‘It’s something that people don’t have the knowledge of’: perceived participation of pupils with Prader-Willi syndrome in specialist schools and staff preparedness. J Res Spec Educ Needs. 2025; 25(2): 341-354.
 
46.
List of rare diseases. https://chorobyrzadkie.gov.pl/.... [cited 2025 July 18].
 
47.
Polish Orphanet database. www.orphanet.pl. [cited 2025 July 18].
 
48.
Polish Registry of Congenital Malformations. www.rejestrwad.pl. [cited 2025 July 18].
 
49.
Duis J, van Wattum PJ, Scheimann A, Salehi P, Brokamp E, Fairbrother L, Childers A, Shelton AR, Bingham NC, Shoemaker AH, Miller JL. A multidisciplinary approach to the clinical management of Prader-Willi syndrome. Mol Genet Genomic Med. 2019; 7(3): e514.
 
50.
Godler DE, Singh D, Butler MG. Genetics of Prader-Willi and Angelman syndromes: 2024 update. Curr Opin Psychiatry. 2025; 38: 95-100.
 
51.
Yoonesi S, Abedi Azar R, Arab Bafrani M, Yaghmayee S, Shahavand H, Mirmazloumi M, Moazeni Limoudehi N, Rahmani M, Hasany S, Idjadi FZ, Aalipour MA, Gharedaghi H, Salehi S, Asadi Anar M, Soleimani MS. Facial expression deep learning algorithms in the detection of neurological disorders: a systematic review and meta-analysis. Biomed Eng Online. 2025; 24(1): 64.
 
eISSN:2300-6722
ISSN:1899-1874
Journals System - logo
Scroll to top