Intellectual and motor performance, quality of life and psychosocial adjustment in children with cystinosis

Cystinosis is a rare multisystemic progressive disorder mandating lifelong medical treatment. Knowledge on the intellectual and motor functioning, health-related quality of life and psychosocial adjustment in children with cystinosis is limited. We have investigated nine patients (four after renal transplantation) at a median age of 9.7 years (range 5.3-19.9 years). Intellectual performance (IP) was analysed with the Wechsler Intelligence Scale for Children-III (seven children) and the Kaufman Assessment Battery for Children (two children). Motor performance (MP) was evaluated using the Zurich Neuromotor Assessment Test, and quality of life (QOL) was studied by means of the Netherlands Organization for Applied Scientific Research Academical Medical Center Child Quality of Life Questionnaire. Psychosocial adjustment was assessed by the Child Behavior Checklist. The overall intelligence quotient (IQ) of our patient cohort (median 92, range 71-105) was significantly lower than that of the healthy controls (p = 0.04), with two patients having an IQ < 85. Verbal IQ (93, range 76-118) was significantly higher than performance IQ (90, range 68-97; p = 0.03). The MP was significantly below the norm for pure motor, pegboard and static balance, as well as for movement quality. The patients' QOL was normal for six of seven dimensions (exception being positive emotions), whereas parents reported significant impairment in positive emotions, autonomy, social and cognitive functions. Significant disturbance was noted in terms of psychosocial adjustment. Based on the results from our small patient cohort, we conclude that intellectual and motor performance, health-related QOL and psychosocial adjustment are significantly impaired in children and adolescents with cystinosis

Treatment management based on adherence: Patient recommendation algorithms. Cross-disciplinary guidelines [УПРАВЛЕНИЕ ЛЕЧЕНИЕМ НА ОСНОВЕ ПРИВЕРЖЕННОСТИ: АЛГОРИТМЫ РЕКОМЕНДАЦИЙ ДЛЯ ПАЦИЕНТОВ. МЕЖДИСЦИПЛИНАРНЫЕ РЕКОМЕНДАЦИИ]

The algorithms (sample templates) of recommendations for patients, which are an integral part of adherence-based treatment management technologies, were developed by an interdisciplinary Working Group coordinated by the Treatment Adherence Section of the Russian Scientific Medical Society of Physicians. The Working Group includes opinion leaders and experts in the therapeutic, gastroenterology, cardiology, preventive medicine, gerontology, oncology, hematology, immunology, phthisiopulmonology, infectious diseases, oncohematology, neurology, intensive care, rehabilitation and other specialties, both involved by the section of RSMSIM, and recommended by the Gastroenterological Scientific Society of Russia, National Association of experts in Thrombosis, Clinical Hemostasiology and Hemorheology, Gerontological Society of the Russian Academy of Sciences, Russian Oncohematologists Society, Russian Society of Phthisiatrists, Society of Evidence-based Neurology. The algorithms are based on the materials of «The First Russian Consensus on Quantitative Assessment of adherence to treatment», approved by the XII National Congress of Internal Medicine (2017) and Clinical Guidelines «Treatment Management on the Basis of adherence», approved by the XIV National Congress of Internal Medicine (2019), taking into account the Consenting Document - Interdisciplinary Guidelines of RSMSIM, GSSR, NATH, SEN, GSRAS, ROHS, RSP «Treatment Management on the Basis of Adherence» (2020). The algorithms of treatment strategies are recommended by the Working Group to be used as a basis for inclusion into relevant sections of clinical guidelines and clinical handbooks developed by professional medical communities, as well as for use by practitioners in medical practice. © 2020 Stavropol State Medical University. All rights reserved