Valle-Reyes VY, Hernández-García M, Villa-Colín FG, Gonzalo-Ugarte AR, Juárez DES, Mantilla-Capacho JM

Language: Spanish
References: 11
Page: 25-34
PDF size: 519.72 Kb.

ABSTRACT

Introduction: the chromosome 22 ring is a rare genetic structural rearrangement, few cases have been reported. Objective: to offer a rehabilitation treatment based on the ICF (International Classification of Functionality) and to contribute to the clinical phenotype of the patient with characteristics not previously described, such as the fusion of 4-5 metacarpals and the absence of the styloid process of the left ulnar. Case presentation: a male patient with chromosome 22 ring syndrome is presented, whose clinical phenotype overlaps with Phelan-McDermid syndrome or chromosome 22q13.3 deletion syndrome, the patient presents musculoskeletal disability and intellectual disability. The rehabilitation treatment is based on precision medicine in a methodology applying the ICF. Results: deficiencies in their body functions and body structures, limitations, participation restrictions, personal and environmental factors were identified and physical therapy and occupational therapy programs were designed to re-educate walking, lower body muscle strengthening and was trained in basic activities of daily living in personal hygiene, clothing and food. Conclusions: a personalized rehabilitation treatment was designed that provided better autonomy and quality of life to the patient.

REFERENCES

1. Guilherme RS, Soares KC, Simioni M, Vieira TP, Gil-da-Silva-Lopes VL, Kim CA et al. Clinical, cytogenetic, and molecular characterization of six patients with ring chromosomes 22, including one with concomitant 22q11.2 deletion. Am J Med Genet A. 2014; 164A: 1659-1665.

2. Canonero I, Montes C, Sturich A, Boterón M, Asinari M, Cuestas E et al. Phelan McDermid syndrome: five patients description and report on the first case described in conjoined twins. Arch Argent Pediatr. 2012; 110 (3): e50-e54.

3. Schinzel A: Catalogue of unbalanced chromosome aberrations in man. 2nd edition. Berlin, Germany: Walter de Gruyter; 2001.

4. Disciglio V, Lo Rizzo C, Mencarelli MA, Mucciolo M, Marozza A, Di Marco C et al. Interstitial 22q13 deletions not involving SHANK3 gene: a new contiguous gene syndrome. Am J Med Genet A. 2014; 164A (7): 1666-1676.

5. Yi F, Danko T, Botelho SC, Patzke C, Pak C, Wernig M et al. Autism-associated SHANK3 haploinsufficiency causes Ih channelopathy in human neurons. Science. 2016; 352 (6286): aaf2669.

6. Sarasua SM, Dwivedi A, Boccuto L, Rollins JD, Chen CF, Rogers RC et al. Association between deletion size and important phenotypes expands the genomic region of interest in Phelan-McDermid syndrome (22q13 deletion syndrome). J Med Genet. 2011; 48 (11): 761-766.

7. Zwanenburg RJ, Ruiter SA, van den Heuvel ER, Flapper BC, Van Ravenswaaij-Arts CM. Developmental phenotype in Phelan-McDermid (22q13.3 deletion) syndrome: a systematic and prospective study in 34 children. J Neurodev Disord. 2016; 8: 16.

8. Reierson G, Bernstein J, Froehlich-Santino W, Urban A, Purmann C, Berquist S et al. Characterizing regression in Phelan McDermid syndrome (22q13 deletion syndrome). J Psychiatr Res. 2017; 91: 139-144.

9. Philippe A, Boddaert N, Vaivre-Douret L, Robel L, Danon-Boileau L, Malan V et al. Neurobehavioral profile and brain imaging study of the 22q13.3 deletion syndrome in childhood. Pediatrics. 2008; 122 (2): e376-e382.

10. Zhou Y, Sharma J, Ke Q, Landman R, Yuan J, Chen H et al. Atypical behaviour and connectivity in SHANK3-mutant macaques. Nature. 2019; 570 (7761): 326-331.

11. Srikanth S, Jain L, Zepeda-Mendoza C, Cascio L, Jones K, Pauly R et al. Position effects of 22q13 rearrangements on candidate genes in Phelan-McDermid syndrome. PLoS One. 2021; 16 (7): e0253859.