Occupational Therapy in Kleefstra Syndrome: A Case Report
Iranian Journal of Child Neurology,
Vol. 18 No. 3 (2024),
22 May 2024
,
Page 143-149
https://doi.org/10.22037/ijcn.v18i3.43716
Abstract
Kleefstra Syndrome is a rare genetic neurodevelopmental disorder caused by a microdeletion in chromosomal region 9q34.3 or a mutation in the EHTM1 gene. Patients with KS show a range of clinical symptoms, including delay in motor and speech development, intellectual disability, autistic-like features, childhood hypotonia, and distinctive facial dysmorphic features. The patient is a 4-year-old girl who was initially diagnosed with developmental motor delay by a pediatric neurologist and referred to an occupational therapy clinic at 6 months of age. The initial assessment showed hypotonia and difficulties with rolling. Occupational therapy intervention was based on principles of neurodevelopmental treatment and sensory integration with cognitive integration and activities of daily living training. With continuous occupational therapy services over more than 3 years, she overcame many disabilities and improved in occupational performance skills such as gross and fine motor skills as well as cognitive abilities, although her verbal communication skill is not effective. The patient's progress was as follows: she began rolling over at 7 months, achieved independent sitting at 10 months, crawled at 18 months, stood with support at 20 months, and took her first steps at 26 months. The predominant problem was speech delay which was noticeable in this syndrome. When a patient is being referred because of Kleefstra syndrome, occupational therapy, and speech therapy assessments should be accurately implemented.
- Occupational therapy
- case report
- Kleefstra syndrome
- EHMT1 gene
How to Cite
References
Kleefstra T, de Leeuw N. Kleefstra Syndrome. GeneReviews®[Internet]. 1993.
Willemsen MH, Vulto-van Silfhout AT, Nillesen WM, Wissink-Lindhout WM, van Bokhoven H, Philip N, et al. Update on Kleefstra syndrome. Molecular syndromology. 2012;2(3-5):202-12.
Kukla M, Karoń M, Chrościńska-Krawczyk M. Kleefstra syndrome–case report. Neurologia Dziecięca. 2019;28(57):49-52.
Vermeulen K, Staal WG, Janzing JG, van Bokhoven H, Egger JI, Kleefstra T. Sleep disturbance as a precursor of severe regression in Kleefstra syndrome suggests a need for firm and rapid pharmacological treatment. Clinical neuropharmacology. 2017;40(4):185-8.
Schmidt S, Nag HE, Hunn BS, Houge G, Hoxmark LB. A structured assessment of motor function and behavior in patients with Kleefstra syndrome. European journal of medical genetics. 2016;59(4):240-8.
Association AOT. Occupational therapy practice framework: Domain and process. The American Journal of Occupational Therapy. 2014;68(Supplement_1):S1-S48.
Noruzinia M, Ahmadvand M, Bashti O, Chaleshtori ARS. Kleefstra syndrome: the first case report from Iran. Acta Medica Iranica. 2017:650-4.
Akhondian J, Fakhr Ghasemi N. Presentation of Kleefstra syndrome; case report. Reviews in Clinical Medicine. 2020;7(2):71-4.
Guterman S, Hervé B, Rivière J, Fauvert D, Clement P, Vialard F. First prenatal diagnosis of a ‘pure’9q34. 3 deletion (Kleefstra syndrome): A case report and literature review. Journal of Obstetrics and Gynaecology Research. 2018;44(3):570-5.
Caseiro G, Manho F, Rodrigues Silva DB, Pfeifer LI. Occupational Therapy Intervention in a child with Cri-du-Chat Syndrome: a case study. CADERNOS BRASILEIROS DE TERAPIA OCUPACIONAL-BRAZILIAN JOURNAL OF OCCUPATIONAL THERAPY. 2013;21(1):141-7.
Raine S, Meadows L, Lynch-Ellerington M. Bobath concept: theory and clinical practice in neurological rehabilitation: John Wiley & Sons; 2013.
Miller Kuhaneck H, Tanta KJ, Coombs AK, Pannone H. A survey of pediatric occupational therapists' use of play. Journal of Occupational Therapy, Schools, & Early Intervention. 2013;6(3):213-27.
Warutkar VB, Kovela RK, Warutkar V. Review of sensory integration therapy for children with cerebral palsy. Cureus. 2022;14(10).
Pizzamiglio MR, Nasti M, Piccardi L, Zotti A, Vitturini C, Spitoni G, et al. Sensory-motor rehabilitation in Rett syndrome: A case report. Focus on Autism and Other Developmental Disabilities. 2008;23(1):49-62.
Kleefstra T, de Leeuw N. Kleefstra syndrome. 2019.
Vermeulen K, de Boer A, Janzing JG, Koolen DA, Ockeloen CW, Willemsen MH, et al. Adaptive and maladaptive functioning in Kleefstra syndrome compared to other rare genetic disorders with intellectual disabilities. American journal of medical genetics Part A. 2017;173(7):1821-30.
Pashmdarfard M, Amini M, Mehraban AH. Participation of Iranian cerebral palsy children in life areas: a systematic review article. Iranian journal of child neurology. 2017;11(1):1.
- Abstract Viewed: 791 times