Rehabilitation in a rare case of coffin-siris syndrome with major cognitive and behavioural disorders

Abstract

BACKGROUND: Coffin-Siris syndrome is a rare genetic disease with heterozygous variants in the ARID1A, ARID1B, ARID2, DPF2, SMARCA4, SMARCB1, SMARCE1 or SOX11 genes. It may manifest with somatic anomalies, deafness, urogenital malformations, recurrent infections, mental retardation, speech deficit, agenesis of the corpus callosum, convulsions, hypotonia, developmental delay, and scoliosis. CASE REPORT: A 14-year-old boy with Coffin-Siris syndrome due to variants in the ARID1A gene was referred to the clinic. His rehabilitation over a 9-year period was described. The problem of assessment and the approach to rehabilitation was discussed, enabling a progressive remodelling of the cognitive-behavioural disorders that most hindered the possibility of his acquiring new skills and achieving social and family integration. CLINICAL REHABILITATION: A protracted, customised, multiprofessional rehabilitation approach, centred on realistic functional objectives, implemented with the direct involvement of the family and school, was the only way to achieve the maximum independence and social and family integration permitted by his residual disability.

The functional secondary effect after an integrated rehabilitative intervention to learn reading and writing in a girl with Rubinstein-Taybi syndrome

“…The cognitive delay associated with these disorders and the limits imposed by the syndrome result in low investment in rehabilitation programs [56]. This issue is further compounded by delays in genetic diagnosis and challenges in tailoring specific rehabilitation programs.…”

Triclosan targets miR-144 abnormal expression to induce neurodevelopmental toxicity mediated by activating PKC/MAPK signaling pathway

“…The functions of epas1b and syn2a are related to neural differentiation and neurotransmitter transmission, respectively, and both are considered sensitive marker genes for neurodevelopment. dpf2 was related to the development of the nervous system, and heterozygous mutations in the dpf2 gene can lead to Coffin-Siris syndrome (Saviola et al, 2021). CD36 protein is a cell surface glycoprotein that is known to promote endothelial cell angiogenesis, and its lack of endothelial cells prevents normal angiogenesis and vascular repair (Bou Khzam et al, 2020).…”