The role of multidisciplinary diagnostic and therapeutic model of care in Lamb-Shaffer syndrome - case report
Journal of Applied Genetics - Trang 1-9 - 2024
Tóm tắt
This case study illustrates a multidisciplinary diagnostic and therapeutic model of care for a 7-year-old male with Lamb–Shaffer syndrome (LAMSHF). LAMSHF is an ultra-rare genetic neurodevelopmental disorder, caused by heterozygous alterations in the SOX5 gene. An integrative model of therapy of cognitive functions and speech is described. The presented approach allows the development of language competences through stimulation of basic cognitive functions, which allows the learning of the abstract rules of an inflected language. A surprising, unexpected improvement in the cognitive functioning of the child was observed (both in terms of reasoning and speech), as well as an increase in his independence. The clinically important problem of the need for continued stimulation of cognitive development, in spite of the unfavourable prognosis associated with LAMSHF, is highlighted.
Tài liệu tham khảo
Fukushi D, Yamada K, Suzuki K, Inaba M, Nomura N, Suzuki Y, Katoh K, Mizuno S, Wakamatsu N (2018) Clinical and genetic characterization of a patient with SOX5 haploinsufficiency caused by a de novo balanced reciprocal translocation. Gene 655:65–70
Innella G et al (2021) Clinical spectrum and follow-up in six individuals with Lamb-Shaffer syndrome (SOX5). Am J Med Genet A 185(2):608–613. https://doi.org/10.1002/ajmg.a.62001
Kamachi Y, Kondoh H (2013) Sox proteins: regulators of cell fate specification and differentiation. Development 140(20):4129–4144. https://doi.org/10.1242/dev.091793
Lamb AN, et al (2012) Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features. Hum Mutat 33(4):728–740
Mahon BZ, Kemmerer D (2020) Interactions between language, thought, and perception: cognitive and neural perspectives. Cogn Neuropsychol 37(5–6):235–240. https://doi.org/10.1080/02643294.2020.1829578
Zawerton A et al (2020) Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency. Genet Med 22(3):524–537. https://doi.org/10.1038/s41436-019-0657-0
Ben-Hur M, Feuerstein R (2011) Feuerstein’s new program for the facilitation of cognitive development in young children. J Cogn Educ Psych (3):224–237
Roid GH, Sajewicz-Radtke U, Radtke BM, Lipowska M (2017) Skala Inteligencji Stanford-Binet, Edycja Piąta [Stanford-Binet Intelligence Scales, Fifth Edition]. Pracownia Testów Psychologicznych i Pedagogicznych [Laboratory of Psychological and Pedagogical Tests]
Roid GH, Sajewicz-Radtke U, Radtke BM, Jurek P (2018) Podręcznik interpretacyjny. Przewodnik po zaawansowanej interpretacji wyników SB5 [Interpretive Manual. Expanded Guide to the Interpretation of SB5 Test Results]. Pracownia Testów Psychologicznych i Pedagogicznych [Psychological and Pedagogical Testing Laboratory]
Roid GH (2003) Stanford-Binet Intelligence Scales, Fifth Edition. Riverside Publishing
Sajewicz-Radtke U, Radtke BM (2023) Funkcjonalna Skala Dojrzałości Społecznej FSDS [Functional Scale of Social Maturity FSDS]. Pracownia Testów Psychologicznych i Pedagogicznych [Psychological and Pedagogical Testing Laboratory]
Salas N et al (2010) Application of IE-basic program to promote cognitive and affective development in preschoolers: a Chilean study. J Cogn Educ Psych (3):285–297. https://doi.org/10.1891/1945-8959.9.3.285