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Follow-up Observation and Rehabilitation in Patients with Costello Syndrome

https://doi.org/10.31550/1727-2378-2024-23-3-97-105

Abstract

Aim. To evaluate the results of rehabilitation of patients with Costello syndrome in a day hospital in the long-term period.

Design. A retrospective, single-center, prolonged, non-randomized observational study.

Materials and methods. The study included 6 patients with genetically verified Costello syndrome who were observed in a day hospital in the period from 2012 to 2024. The results of catamnestic observation and rehabilitation of patients are analyzed.

Results. Catamnestic observation in a multidisciplinary hospital for 2–12 years made it possible to evaluate the effectiveness of rehabilitation in the patients. Comprehensive individual rehabilitation programs were developed for 6 patients with Costello syndrome (5 girls, 1 boy) aged 4 months to 12 years. All patients received rehabilitation on the background of medication prescribed by pediatrician and neurologist, within botulinum therapy (2 children). In addition to physical influence (physiotherapy, kinesiotherapy), there were classes with a speech therapist, speech pathologist and a family psychologist. The results were evaluated according to indicators of psychomotor and speech progress, cognitive abilities and social adaptation. Positive dynamics was demonstrated in 5 out of 6 observed patients. Six patients underwent a complex individualized rehabilitation therapy during periods of stabilization of their condition after pediatrician approval. In our research 3 оf 6 children with Costello syndrome underwent 3 rehabilitation courses at the age of 1–2 years. Other 3 patients continued to undergo rehabilitation treatment one time per year during long-term follow-up observation in a day hospital, their programs were developed individually in accordance with current tasks. An integrated approach allowed children to adapt to society and start visiting the secondary school.

Conclusion. Comprehensive individual rehabilitation programs developed for each patient, based on the results of examination, made it possible to achieve an improvement in the patients' condition — neuro-orthopedic and somatic indicators, as well as cognitive development and social adaptation.

About the Authors

I. V. Davydova
National Medical Research Center for Children's Health
Russian Federation

2/62 Lomonosov Ave., Moscow, 119296



E. A. Bakovich
National Medical Research Center for Children's Health
Russian Federation

2/62 Lomonosov Ave., Moscow, 119296



E. P. Zimina
National Medical Research Center for Children's Health
Russian Federation

2/62 Lomonosov Ave., Moscow, 119296



O. M. Konova
National Medical Research Center for Children's Health
Russian Federation

2/62 Lomonosov Ave., Moscow, 119296



S. B. Lazurenko
National Medical Research Center for Children's Health
Russian Federation

2/62 Lomonosov Ave., Moscow, 119296



V. M. Sklyadneva
National Medical Research Center for Children's Health
Russian Federation

2/62 Lomonosov Ave., Moscow, 119296



I. E. Turina
I.M. Sechenov First Moscow State Medical University (Sechenov University)
Russian Federation

8 Trubetskaya Str., build. 2, Moscow, 119048



References

1. Costello J.M. A new syndrome. New Zealand Med. J. 1971;74:397.

2. Costello J.M. A new syndrome: mental subnormality and nasal papillomata. Aust. Paediatr. J. 1977;13:114–18.

3. Kerr B., Delrue M.-A., Sigaudy S., Perveen R. at al. Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases. J. Med. Genet. 2006;43:401–5. DOI: 10.1136/jmg.2005.040352

4. Vasina T.N., Zubtsova T.I., Stavtseva S.N., Kirsanova T.A. Clinical diagnosis of a rare inherited disease: Costello syndrome. Russian Bulletin of Perinatology and Pediatrics. 2010;5:27–30. (in Russian)

5. Baranov A.A., Namazova-Baranova L.S., eds. Atlas of rare diseases. M.: Pediatrician; 2016: 269–72. (in Russian)

6. Kharitonova N.A., Basargina M.A., Mitish M.D., Zharova О.Р. et al. Costello syndrome in the practice of a neonatologist. A clinical case. Medical Opponent 2021;4(16):76–80. (in Russian)

7. Gripp K.W., Morse L.A., Axelrad M., Chatfield K.C. at al. Сostello syndrom: clinical phenotype, genotype and management guidelines. Am. J. Med. Genet. 2019;179(9):1725–44. DOI: 10.1002/ajmg.a.61270

8. Astiazaran-Symonds E., Ney G.M., Higgs C., Oba L. at al. Cancer in Costello syndrome: a systematic review and meta-analysis. Br. J. Cancer. 2023;128(11):2089–96. DOI: 10.1038/s41416-023-02229-7

9. Skapenkov I.N., Tveritneva A.Yu., Shargina K.V., Bogoroditskiy Yu.S. et al. Neoplasms in children with Costello syndrome: experience of the Russian Children's Clinical Hospital with the Pirogov Russian National Research Medical University of the Ministry of Healthcare of Russia (Moscow, Russia). Pediatrics. Journal named after G.N. Speransky. 2023;102(6):165–70. (in Russian). DOI: 10.24110/0031-403X-2023-102-6-165-170

10. Axelrad M.I., Schwartz D.D., Fekhlis D.E., Hopkins E. at al. Longitudinal course of cognitive, adaptive and behavioral characteristics in Costello syndrome. Am. J. Med. Genet. A. 2009;149A(12):2666–72. DOI: 10.1002/ajmg.a.33126

11. Nazarenko LP, Orlov DS, Seitova GN, Filimonova MN. Optimisation of the algorithm for diagnosis and standard medical examination of patients with Castello syndrome. Methodical recommendations on medical technologies for the diagnosis of chromosomal, orphan and multiple diseases in humans. Tomsk; 2017: 115–42. (in Russian)

12. Lin A.E., Alexander M.E., Colan S.D., Kerr B. at al. Clinical, pathological and molecular analyses of cardiovascular abnormalities in Costello syndrome. Am. J. Med. Genet. A. 2011;155A(3):486–507. DOI: 10.1002/ajmg.a.33857

13. Zhurkova N.V., Gandaeva L.A., Pushkov A.A., Basargina E.N. et al. RASopathies in multidisciplinary pediatric hospital. Medical Genetics. 2020;19(8):21–3. (in Russian)


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For citations:


Davydova I.V., Bakovich E.A., Zimina E.P., Konova O.M., Lazurenko S.B., Sklyadneva V.M., Turina I.E. Follow-up Observation and Rehabilitation in Patients with Costello Syndrome. Title. 2024;23(3):98-106. (In Russ.) https://doi.org/10.31550/1727-2378-2024-23-3-97-105

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ISSN 1727-2378 (Print)
ISSN 2713-2994 (Online)