Case Report
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Year 2022, , 783 - 786, 28.09.2022
https://doi.org/10.33808/clinexphealthsci.833672

Abstract

References

  • Kwong A, Shin YV, Who CJ. SLC19A3 (solute carrier family 19 (thiamine transporter), member 3. Atlas Genet Cytogenet Oncol Haematol. 2015;19(6):401-403.
  • Mimouni A, Mimouni B, Goldberg H, Goldberg S, Strausberg R, Brezner A, Heyman E, Inbar D, Kivity S, Zvulunov A, Sztarkier I, Fogelman R, Fattal A, Fattal V. Thiamine deficiency in infancy: long-term follow-up. Pediatric Neurology. 2014;51(3):311-316.
  • Pérez B, Pérez D, Serrano M, Rebollo M, Muchart J, Gargallo E, Dupuits C, Artuch R. Reversible lactic acidosis in a newborn with thiamine transporter-2 deficiency. Pediatrics. 2013;131 (5):1670-1674.
  • Ozand PT, Gascon GG, Al Essa M, Al Essa M, Joshi S, Al Jishi E, Bakheet S, Al Watban J, Al-Kawi MZ, Dabbagh O. Biotinresponsive basal ganglia disease: a novel entity. Brain. 1998;121(7):1267–1279.
  • Alfadhel M, Tabarki B. SLC19A3 Gene defects sorting the phenotype and acronyms: review. Neuropediatrics. 2017;9 (02):083-092.
  • Pérez B, Pérez D, Serrano M, Rebollo M, Muchart J, Gargallo E, Dupuits C, Artuch R. Reversible lactic acidosis in a newborn with thiamine transporter-2 deficiency. Pediatrics. 2013;131(5):e1670–e1675.
  • Smith TJ, Johnson CR, Koshy R, Hess SY, Qureshi UA, Mynak ML, Fische PR. Thiamine deficiency disorders: a clinical perspective. Ann. N.Y. Acad. Sci. 2021;1498(1):9–28.
  • Einspieler C, Marschik P B, Bos AF, Ferrari F, Cioni G, Prechtl PRH. Early markers for cerebral palsy: Insights from the assessment of general movements. Future Neurol. 2012;7(6):709-71.
  • Novak I, Morgan C, Adde L, Blackman J, Boyd N, Brunstrom-Hernandez J, Cioni G, Damiano D, Darrah J, Eliasson AC, Vrie LS, Einspieler C, Fahey M, Fehlings D, Ferriero DM, Fetters L, Fiori S, Forssberg H, Gordon AM, Greaves S, Guzzetta A, Hadders-Algra M, Harbourne R, Kakooza-Mwesige A, Karlsson P, Krumlinde-Sundholm L, Latal B, Loughran-Fowlds A, Maitre N, McIntyre S, Noritz G, Pennington L, Romeo MD, Shepherd R, Spittle JA, Thornton M, Valentine J, Walker K, White R, Badawi N. Early, accurate diagnosis and early intervention in cerebral palsy, advances in diagnosis and treatment. Jama Pediatrics. 2017;171(9):897-907.
  • Germani T, Zwaigenbaum L, Bryson S, Brian J, Smith I. Roberts W, Szatmari P, Roncadin C, Sacrey RA, Garon N, Vaillancourt T. Brief Report: Assessment of early sensory processing in infants at high-risk of autism spectrum disorder. J Autism Dev Disord. 2014;44(12):3264–3270.
  • Eeles L, Spittle JA, Anderson JP, Brown N, Lee JK, Boyd NR, Doyle WL. Assessments of sensory processing in infants: A systematic review. Abbey Developmental Medicine&Child Neurology. 2013;55(4):314-326.
  • Metz AE, Boling D, DeVore A, Holladay H, Liao FS, Vlutch KV. Dunn’s Model of Sensory Processing: An investigation of the axes of the four-quadrant model in healthy adults. Rief Report. Brain Sci. 2019;9(2):35.
  • Backhouse M, Harding L, Rodger S, Hindman N. Investigating sensory processing pattern in boys with duchenne muscular dystrophy using the sensory profile. British Journal of Occupational Therapy. 2012;75(6):271-280.
  • Machadoa PVCA, Oliveiraa RS, Magalhãesb CL, Mirandaa MD, Bouzada FCM. Sensory processing during childhood in preterm infants: A systematic review. Rev Paul Pediatr. 2017; 35(1):92-101.
  • Celik HI, Elbasan B, Gucuyener K, Kayihan H, Huri M. Investigation of the relationship between sensory processing and motor development in preterm infants. AJOT, 2018;72(1): 720.119.5020p1-720.119.5020p7.

Case Report: Motor and Sensory Development of a Case Followed with Suspicion of Neonatal Thiamine Metabolism Dysfunction Syndrome

Year 2022, , 783 - 786, 28.09.2022
https://doi.org/10.33808/clinexphealthsci.833672

Abstract

The aim of this study was to follow early motor and sensory development of the infant with Thiamine Metabolism Dysfunction Syndrome (TMDS). Newborn with 38 weeks gestational age, 2600 kilograms weight admitted to neonatal intensive care unit (NICU) due to respiratory distress, absence of suction reflex, and floppy appearance. Case had respiratory support during 5 weeks. Infant was referred to SANKO University
Physiotherapy unit on postterm 12th week due to hypotonia after discharge. Prechtl’s General Movements (GMs) and Hammersmith Infant Neurological Evaluation (HINE) was performed at 3rd and 4th months. Sensory processing parameters were evaluated with the Newborn Sensory Profile-2 (NSP-2). Case had no Fidgety movements (FMs). The HINE score was 37-45 in the 3th and 4th month respectively. Total score
in NSP-2 was 33 in the 3rd month (general = 12, auditory = 7, visual = 8, tactile = 2, movement = 2, oral sensory processing = 1). While the case’s Newborn Sensory Profile-2 (NSP-2) total score was in newborn norms, visual, tactile, movement but oral sensory parameters and auditory parameters were in low limits. The low motor performance was associated with low NSP-2 score and showed interaction with motor-sensory development. It is concluded that early physiotherapy program can be effective.

References

  • Kwong A, Shin YV, Who CJ. SLC19A3 (solute carrier family 19 (thiamine transporter), member 3. Atlas Genet Cytogenet Oncol Haematol. 2015;19(6):401-403.
  • Mimouni A, Mimouni B, Goldberg H, Goldberg S, Strausberg R, Brezner A, Heyman E, Inbar D, Kivity S, Zvulunov A, Sztarkier I, Fogelman R, Fattal A, Fattal V. Thiamine deficiency in infancy: long-term follow-up. Pediatric Neurology. 2014;51(3):311-316.
  • Pérez B, Pérez D, Serrano M, Rebollo M, Muchart J, Gargallo E, Dupuits C, Artuch R. Reversible lactic acidosis in a newborn with thiamine transporter-2 deficiency. Pediatrics. 2013;131 (5):1670-1674.
  • Ozand PT, Gascon GG, Al Essa M, Al Essa M, Joshi S, Al Jishi E, Bakheet S, Al Watban J, Al-Kawi MZ, Dabbagh O. Biotinresponsive basal ganglia disease: a novel entity. Brain. 1998;121(7):1267–1279.
  • Alfadhel M, Tabarki B. SLC19A3 Gene defects sorting the phenotype and acronyms: review. Neuropediatrics. 2017;9 (02):083-092.
  • Pérez B, Pérez D, Serrano M, Rebollo M, Muchart J, Gargallo E, Dupuits C, Artuch R. Reversible lactic acidosis in a newborn with thiamine transporter-2 deficiency. Pediatrics. 2013;131(5):e1670–e1675.
  • Smith TJ, Johnson CR, Koshy R, Hess SY, Qureshi UA, Mynak ML, Fische PR. Thiamine deficiency disorders: a clinical perspective. Ann. N.Y. Acad. Sci. 2021;1498(1):9–28.
  • Einspieler C, Marschik P B, Bos AF, Ferrari F, Cioni G, Prechtl PRH. Early markers for cerebral palsy: Insights from the assessment of general movements. Future Neurol. 2012;7(6):709-71.
  • Novak I, Morgan C, Adde L, Blackman J, Boyd N, Brunstrom-Hernandez J, Cioni G, Damiano D, Darrah J, Eliasson AC, Vrie LS, Einspieler C, Fahey M, Fehlings D, Ferriero DM, Fetters L, Fiori S, Forssberg H, Gordon AM, Greaves S, Guzzetta A, Hadders-Algra M, Harbourne R, Kakooza-Mwesige A, Karlsson P, Krumlinde-Sundholm L, Latal B, Loughran-Fowlds A, Maitre N, McIntyre S, Noritz G, Pennington L, Romeo MD, Shepherd R, Spittle JA, Thornton M, Valentine J, Walker K, White R, Badawi N. Early, accurate diagnosis and early intervention in cerebral palsy, advances in diagnosis and treatment. Jama Pediatrics. 2017;171(9):897-907.
  • Germani T, Zwaigenbaum L, Bryson S, Brian J, Smith I. Roberts W, Szatmari P, Roncadin C, Sacrey RA, Garon N, Vaillancourt T. Brief Report: Assessment of early sensory processing in infants at high-risk of autism spectrum disorder. J Autism Dev Disord. 2014;44(12):3264–3270.
  • Eeles L, Spittle JA, Anderson JP, Brown N, Lee JK, Boyd NR, Doyle WL. Assessments of sensory processing in infants: A systematic review. Abbey Developmental Medicine&Child Neurology. 2013;55(4):314-326.
  • Metz AE, Boling D, DeVore A, Holladay H, Liao FS, Vlutch KV. Dunn’s Model of Sensory Processing: An investigation of the axes of the four-quadrant model in healthy adults. Rief Report. Brain Sci. 2019;9(2):35.
  • Backhouse M, Harding L, Rodger S, Hindman N. Investigating sensory processing pattern in boys with duchenne muscular dystrophy using the sensory profile. British Journal of Occupational Therapy. 2012;75(6):271-280.
  • Machadoa PVCA, Oliveiraa RS, Magalhãesb CL, Mirandaa MD, Bouzada FCM. Sensory processing during childhood in preterm infants: A systematic review. Rev Paul Pediatr. 2017; 35(1):92-101.
  • Celik HI, Elbasan B, Gucuyener K, Kayihan H, Huri M. Investigation of the relationship between sensory processing and motor development in preterm infants. AJOT, 2018;72(1): 720.119.5020p1-720.119.5020p7.
There are 15 citations in total.

Details

Primary Language English
Subjects Health Care Administration
Journal Section Case Report
Authors

Hatice Adıgüzel 0000-0001-9323-839X

Hülya Kayıhan 0000-0003-2166-3674

Ünal Sarıkabadayı 0000-0003-3953-9137

Bülent Elbasan 0000-0001-8714-0214

Publication Date September 28, 2022
Submission Date November 30, 2020
Published in Issue Year 2022

Cite

APA Adıgüzel, H., Kayıhan, H., Sarıkabadayı, Ü., Elbasan, B. (2022). Case Report: Motor and Sensory Development of a Case Followed with Suspicion of Neonatal Thiamine Metabolism Dysfunction Syndrome. Clinical and Experimental Health Sciences, 12(3), 783-786. https://doi.org/10.33808/clinexphealthsci.833672
AMA Adıgüzel H, Kayıhan H, Sarıkabadayı Ü, Elbasan B. Case Report: Motor and Sensory Development of a Case Followed with Suspicion of Neonatal Thiamine Metabolism Dysfunction Syndrome. Clinical and Experimental Health Sciences. September 2022;12(3):783-786. doi:10.33808/clinexphealthsci.833672
Chicago Adıgüzel, Hatice, Hülya Kayıhan, Ünal Sarıkabadayı, and Bülent Elbasan. “Case Report: Motor and Sensory Development of a Case Followed With Suspicion of Neonatal Thiamine Metabolism Dysfunction Syndrome”. Clinical and Experimental Health Sciences 12, no. 3 (September 2022): 783-86. https://doi.org/10.33808/clinexphealthsci.833672.
EndNote Adıgüzel H, Kayıhan H, Sarıkabadayı Ü, Elbasan B (September 1, 2022) Case Report: Motor and Sensory Development of a Case Followed with Suspicion of Neonatal Thiamine Metabolism Dysfunction Syndrome. Clinical and Experimental Health Sciences 12 3 783–786.
IEEE H. Adıgüzel, H. Kayıhan, Ü. Sarıkabadayı, and B. Elbasan, “Case Report: Motor and Sensory Development of a Case Followed with Suspicion of Neonatal Thiamine Metabolism Dysfunction Syndrome”, Clinical and Experimental Health Sciences, vol. 12, no. 3, pp. 783–786, 2022, doi: 10.33808/clinexphealthsci.833672.
ISNAD Adıgüzel, Hatice et al. “Case Report: Motor and Sensory Development of a Case Followed With Suspicion of Neonatal Thiamine Metabolism Dysfunction Syndrome”. Clinical and Experimental Health Sciences 12/3 (September 2022), 783-786. https://doi.org/10.33808/clinexphealthsci.833672.
JAMA Adıgüzel H, Kayıhan H, Sarıkabadayı Ü, Elbasan B. Case Report: Motor and Sensory Development of a Case Followed with Suspicion of Neonatal Thiamine Metabolism Dysfunction Syndrome. Clinical and Experimental Health Sciences. 2022;12:783–786.
MLA Adıgüzel, Hatice et al. “Case Report: Motor and Sensory Development of a Case Followed With Suspicion of Neonatal Thiamine Metabolism Dysfunction Syndrome”. Clinical and Experimental Health Sciences, vol. 12, no. 3, 2022, pp. 783-6, doi:10.33808/clinexphealthsci.833672.
Vancouver Adıgüzel H, Kayıhan H, Sarıkabadayı Ü, Elbasan B. Case Report: Motor and Sensory Development of a Case Followed with Suspicion of Neonatal Thiamine Metabolism Dysfunction Syndrome. Clinical and Experimental Health Sciences. 2022;12(3):783-6.

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