Cornelia De Lange Syndrome in the International Classification of Functioning, Disability and Health Perspetive: A Case Report
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Published:
Jun 28, 2023
Keywords:
Cornelia de Lange Syndrome, International Classification of Functioning Disability and Health, Rehabilitation, Pediatrics
Main Article Content
Abstract
Background: Cornelia de Lange syndrome (CdLS) is a genetic disorder featured by multi-systemic malformations, such as microcephaly, hypertrichosis, upper limb defects, growth retardation, developmental delay, and a variety of associated malformations. Multidisciplinary and holistic care is needed in the management and rehabilitation of individuals with CdLS. One of the tools that can be used as a clinical measurement in holistic care is the International Classification of Functioning, Disability, and Health (ICF).
Objective: To provide a holistic approach and intervention by using the ICF assessment in CdLS individuals.
Case: A 53-month-old boy was admitted to Physical Medicine and Rehabilitation outpatient clinic of Primasatya Husada Citra (PHC) hospital of Surabaya in February 2021, due to global developmental and growth delay. The patient had low body weight and short stature. The patient had thick eyebrows, a short nose, a concave nasal ridge, thin upper lip vermillion, smooth philtrum, and small hands with small fifth fingers. Was only able to say several words, and it was not clearly pronounced. During the daily activity, he had difficulty going downstairs and wearing his socks, long pants, and shirt. Attended pre-school, had difficulties with speaking, reading, and focusing attention.
Conclusion: ICF can help physicians to assess a patient’s condition thoroughly, to set goals, and to provide condition-appropriate treatment and rehabilitation programs for CdLS patients.
Objective: To provide a holistic approach and intervention by using the ICF assessment in CdLS individuals.
Case: A 53-month-old boy was admitted to Physical Medicine and Rehabilitation outpatient clinic of Primasatya Husada Citra (PHC) hospital of Surabaya in February 2021, due to global developmental and growth delay. The patient had low body weight and short stature. The patient had thick eyebrows, a short nose, a concave nasal ridge, thin upper lip vermillion, smooth philtrum, and small hands with small fifth fingers. Was only able to say several words, and it was not clearly pronounced. During the daily activity, he had difficulty going downstairs and wearing his socks, long pants, and shirt. Attended pre-school, had difficulties with speaking, reading, and focusing attention.
Conclusion: ICF can help physicians to assess a patient’s condition thoroughly, to set goals, and to provide condition-appropriate treatment and rehabilitation programs for CdLS patients.
Article Details
How to Cite
Setiawan, A., Nugroho, N., Hadipranata, T., Andriani, B. A., & Sasangka, J. A. (2023). Cornelia De Lange Syndrome in the International Classification of Functioning, Disability and Health Perspetive: A Case Report. Indonesian Journal of Physical Medicine and Rehabilitation, 12(01), 33 - 42. https://doi.org/10.36803/indojpmr.v12i01.352
Section
Case Report
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References
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Intensive Neuromotor Therapy improves motor skills of children with Cornelia de
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epidemiology of Cornelia de Lange syndrome in Europe. Am J Med Genet A. 2008 Jan 1;146(1):51–9.
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Cornelia de Lange Syndrome. Case Rep Pediatr. 2020 Apr 9;2020:1–4.
12. Cheng IF, Kuo LC, Lin CJ, Chieh HF, Su FC. Anthropometric Database of the Preschool
Children from 2 to 6 Years in Taiwan. J Med Biol Eng. 2019 Aug 5;39(4):552–68.
13. Kline AD, Krantz ID, Sommer A, Kliewer M, Jackson LG, FitzPatrick DR, et al.
Cornelia de Lange syndrome: Clinical review, diagnostic and scoring systems, and
anticipatory guidance. Vol. 143, American Journal of Medical Genetics, Part A. Wiley-
Liss Inc.; 2007. p. 1287–96.
14. Mikołajewska E. Functional abilities in children with Cornelia de Lange syndrome
– pilot study. Annales Academiae Medicae Silesiensis. 2019 Oct 22;73:199–202.
15. Mikolajewska E. Interdisciplinary Therapy in Cornelia de Lange Syndrome-Review
of the Literature. Adv Clin Exp Med. 2013;22(4):571–7.
16. Kline AD, Barr M, Jackson LG. Growth Manifestations in the Brachmann-de Lange
Syndrome. Vol. 47, American Journal of Medical Genetics. 1993.
17. Kline AD, Stanley C, Belevich J, Brodsky K, Barr M, Jackson LG. Developmental
Data on Individuals With the Brachmannde
Lange Syndrome. American Journal of Medical Genetics. 1993.
18. Griffith GM, Hastings RP, Nash S, Petalas M, Oliver C, Howlin P, et al. “You have to
sit and explain it all, and explain yourself.” mothers’ experiences of support services for
their offspring with a rare genetic intellectual disability syndrome. J Genet Couns. 2011
Apr;20(2):165–77.
19. Cacioppo CN, Conway LJ, Mehta D, Krantz ID, Noon SE. Attitudes about the use of
internet support groups and the impact among parents of children with Cornelia de
Lange syndrome. Am J Med Genet C Semin Med Genet. 2016 Jun 1;172(2):229–36.
20. Kepala Badan Penelitian dan Pengembangan dan Perbukuan P, Pendidikan Kebudayaan
K, dan Teknologi Anindito Aditomo Kepala Pusat Kurikulum dan Perbukuan Badan
Penelitian dan Pengembangan dan Perbukuan Kementerian Pendidikan R, dan Teknologi
Maman Fathurrohman Penanggung Jawab Koordinator Substansi Pengembangan
Kurikulum Badan Penelitian dan Pengembangan dan Perbukuan Kementerian
Pendidikan R, dan Teknologi Yogi Anggraena R. PANDUAN PELAKSANAAN
PENDIDIKAN INKLUSIF. 2021.
of Intronic NIPBL Pathogenic Variant Associated with Mild CdLSs. Front Neurol. 2018 Nov 27;9(NOV).
2. Kline AD, Moss JF, Selicorni A, Bisgaard AM, Deardorff MA, Gillett PM, et al.
Diagnosis and management of Cornelia de Lange syndrome: first international
consensus statement. Vol. 19, Nature Reviews Genetics. Nature Publishing Group; 2018. p. 649–66.
3. Dowsett L, Porras AR, Kruszka P, Davis B, Hu T, Honey E, et al. Cornelia de Lange syndrome in diverse populations. Am J Med Genet A. 2019 Feb 1;179(2):150–8.
4. Liu C, Li X, Cui J, Dong R, Lv Y, Wang D, et al. Analysis of clinical and genetic characteristics in 10 Chinese individuals with Cornelia de Lange syndrome and literature review. Mol Genet Genomic Med.
2020 Oct 1;8(10).
5. World Health Organization. International classification of functioning, disability and health : ICF. 299 p.
6. World Health Organization. International classification of functioning, disability, and
health : children & youth version : ICF-CY. World Health Organization; 2007. 322 p.
7. Mélo TR, Freitas J, Sabbag A de A, Chiarello CR, Neves EB, Israel VL.
Intensive Neuromotor Therapy improves motor skills of children with Cornelia de
Lange Syndrome: case report. Fisioterapia em Movimento. 2019;32.
8. Mariani M, Decimi V, Bettini LR, Maitz S, Gervasini C, Masciadri M, et al. Adolescents
and adults affected by Cornelia de Lange syndrome: A report of 73 Italian patients.
Am J Med Genet C Semin Med Genet. 2016 Jun 1;172(2):206–13.
9. Barisic I, Tokic V, Loane M, Bianchi F, Calzolari E, Garne E, et al. Descriptive
epidemiology of Cornelia de Lange syndrome in Europe. Am J Med Genet A. 2008 Jan 1;146(1):51–9.
10. Bhatia R, Mehta DN. Cornelia De-Lange Syndrome: A Case Report. Int J Clin Pediatr
Dent [Internet]. 2013 Aug;6(2):115–8. Available from: https://www.ijcpd.com/doi/10.5005/jp-journals-10005-1201
11. Rodríguez P, Asturias K. A 16-Day-Old Infant with a Clinical Diagnosis of Classical
Cornelia de Lange Syndrome. Case Rep Pediatr. 2020 Apr 9;2020:1–4.
12. Cheng IF, Kuo LC, Lin CJ, Chieh HF, Su FC. Anthropometric Database of the Preschool
Children from 2 to 6 Years in Taiwan. J Med Biol Eng. 2019 Aug 5;39(4):552–68.
13. Kline AD, Krantz ID, Sommer A, Kliewer M, Jackson LG, FitzPatrick DR, et al.
Cornelia de Lange syndrome: Clinical review, diagnostic and scoring systems, and
anticipatory guidance. Vol. 143, American Journal of Medical Genetics, Part A. Wiley-
Liss Inc.; 2007. p. 1287–96.
14. Mikołajewska E. Functional abilities in children with Cornelia de Lange syndrome
– pilot study. Annales Academiae Medicae Silesiensis. 2019 Oct 22;73:199–202.
15. Mikolajewska E. Interdisciplinary Therapy in Cornelia de Lange Syndrome-Review
of the Literature. Adv Clin Exp Med. 2013;22(4):571–7.
16. Kline AD, Barr M, Jackson LG. Growth Manifestations in the Brachmann-de Lange
Syndrome. Vol. 47, American Journal of Medical Genetics. 1993.
17. Kline AD, Stanley C, Belevich J, Brodsky K, Barr M, Jackson LG. Developmental
Data on Individuals With the Brachmannde
Lange Syndrome. American Journal of Medical Genetics. 1993.
18. Griffith GM, Hastings RP, Nash S, Petalas M, Oliver C, Howlin P, et al. “You have to
sit and explain it all, and explain yourself.” mothers’ experiences of support services for
their offspring with a rare genetic intellectual disability syndrome. J Genet Couns. 2011
Apr;20(2):165–77.
19. Cacioppo CN, Conway LJ, Mehta D, Krantz ID, Noon SE. Attitudes about the use of
internet support groups and the impact among parents of children with Cornelia de
Lange syndrome. Am J Med Genet C Semin Med Genet. 2016 Jun 1;172(2):229–36.
20. Kepala Badan Penelitian dan Pengembangan dan Perbukuan P, Pendidikan Kebudayaan
K, dan Teknologi Anindito Aditomo Kepala Pusat Kurikulum dan Perbukuan Badan
Penelitian dan Pengembangan dan Perbukuan Kementerian Pendidikan R, dan Teknologi
Maman Fathurrohman Penanggung Jawab Koordinator Substansi Pengembangan
Kurikulum Badan Penelitian dan Pengembangan dan Perbukuan Kementerian
Pendidikan R, dan Teknologi Yogi Anggraena R. PANDUAN PELAKSANAAN
PENDIDIKAN INKLUSIF. 2021.