A clinical case of physical therapy of a child with multiple sulfatase deficiency

I.M. Grygus; O.B. Nagorna; N.E. Nesterchuk; A.O. Nogas; P.S. Podoliaka; T.V.  Gamma

doi:10.26641/2307-0404.2021.2.234735

Authors

I.M. Grygus National University of Water and Environmental Engineering, Institute of Health Care, Volynska str, 24, Rivne, 33028, Ukraine, Ukraine https://orcid.org/0000-0003-2856-8514
O.B. Nagorna National University of Water and Environmental Engineering, Institute of Health Care, Volynska str, 24, Rivne, 33028, Ukraine, Ukraine https://orcid.org/0000-0002-6243-4862
N.E. Nesterchuk National University of Water and Environmental Engineering, Institute of Health Care, Volynska str, 24, Rivne, 33028, Ukraine, Ukraine https://orcid.org/0000-0003-2199-3403
A.O. Nogas National University of Water and Environmental Engineering, Institute of Health Care, Volynska str, 24, Rivne, 33028, Ukraine, Ukraine https://orcid.org/0000-0003-1287-9828
P.S. Podoliaka National University of Water and Environmental Engineering, Institute of Health Care, Volynska str, 24, Rivne, 33028, Ukraine, Ukraine https://orcid.org/0000-0001-6440-1872
T.V. Gamma National University of Water and Environmental Engineering, Institute of Health Care, Volynska str, 24, Rivne, 33028, Ukraine, Ukraine https://orcid.org/0000-0001-9295-3375

DOI:

https://doi.org/10.26641/2307-0404.2021.2.234735

Keywords:

orphan disease, rehabilitation, therapeutic intervention, massage, physical therapy, verticalization

Abstract

The article deals with the problems of physical therapy in children with multiple sulfatase deficiency (MSD). The purpose of the study presented in the article was to substantiate the need to form a structured, personalized comprehensive rehabilitation program for children with multiple sulfatase deficiency. The objectives of the study were to analyze the literature on the topic of the study, to study the clinical phenotype of multiple sulfatase deficiency and potential complications of this pathology, to justify the use of physical therapy in children with multiple sulfatase deficiency. Research methods: analysis of scientific and methodological sources of domestic and foreign authors, pedagogical observation, collection of anamnestic information of the patient. The publication discusses the clinical phenotype of genetic pathology and possible potential complications of this orphan disease, strategic vectors of an individual rehabilitation program. The description of a clinical case of late infantile form of the disease is presented. The effectiveness of a six-months’ implementation of the physical therapy program is being investigated. For rehabilitation examination of children with MSD, it is proposed to use testing of children with psychomotor disorders. The technique of massage, the appropriateness of verticalization and orthotics, sensory enrichment of the environment of a child with this genetic pathology are revealed. Exercises of therapeutic physical culture are proposed, they will help to maintain postural control, support ability and functioning of arms, legs, hand-eye coordination, and help prevent diseases of the bronchopulmonary system. It is noted that MSD has been insufficiently studied not only from the standpoint of a treatment strategy, diagnostic algorithms for clinical multisystem manifestations, but also requires attention to analyze the effectiveness and efficiency of the system of modern rehabilitation technologies for children with this diagnosis.

References

[Committee on Healthy Nation, Medical Care and Health Insurance]. [Internet]. Ukrainian. Available from: http://komzdrav.rada.gov.ua/fsview/74048.html

[Lysosomal storage diseases. Early childhood neurology], editor SK Evtushenko. Кyiv; 2016. p. 225-39. Russian.

Kyrylova LH, Miroshnykov OO, Yuzva OO, Radzikhovska OV, Horb AL. [Metachromatic leukodystrophy with schizophrenic onset (literature review and clinical case)]. Mizhnarodnyi nevrolohichnyi zhurnal. 2018;3:41-47. Ukrainian. doi: https://doi.org/10.22141/2224-0713.3.97.2018.133681

Pichkur NO. [Neuropathic forms of lysosomal diseases accumulation in Ukraine]. Mizhnarodnyi nevrolohichnyi zhurnal. 2017;7(93):47-55. Ukrainian. doi: https://doi.org/10.22141/2224-0713.7.93.2017.116548

Ahrens-Nicklas R, Schlotawa L, Ballabio A, Bru¬netti-Pierri N, De Castro M, Dierks T, Eichler F, Ficicioglu C, Finglas A, Gaertner J, et al. Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement. Mol. Genet. Metab. 2018;123:337-46. doi: https://doi.org/10.1016/j.ymgme.2018.01.005

Jaszczuk L, Schlotawa L, Dierks T, Ohlenbusch A, Koppenhöfer D, Babicz M, Lejman M, Radhakrishnan K, Ługowska A. Expanding the genetic cause of multiple sulfatase deficiency: A novel SUMF1 variant in a patient displaying a severe late infantile form of the disease. Mol. Genet. Metab. 2017;121:252-8. doi: https://doi.org/10.1016/j.ymgme.2017.05.013

Nesterchuk N, Grygus I, Prusik K, Zukow W. The technique of physical rehabilitation in clubfoot. Physiotherapy Quarterly. 2019;27(1):25-34. doi: https://doi.org/10.5114/pq.2019.83058

Schlotawa Lars, Adang Laura A, Karthikeyan Radhakrishnan, Ahrens-Nicklas Rebecca C. Multiple Sulfatase Deficiency: A Disease Comprising Mucopoly¬saccharidosis, Sphingolipidosis, and More Caused by a Defect in Posttranslational Modification. Int J Mol Sci. 2020 May;21(10):3448. doi: https://doi.org/10.3390/ijms21103448