Marfan syndrome in adolescence: adolescents' perspectives on (physical) functioning, disability, contextual factors and support needs.

Although essential for providing optimal adolescent patient support, knowledge of the impact of Marfan syndrome in adolescence is limited. To explore adolescents' perceived impact of Marfan syndrome on (physical) functioning (activities, participation), disability (limitations, restrictions), contextual factors and support needs, we interviewed 19 adolescents with Marfan syndrome. Audio-recordings were transcribed, coded and analysed using thematic analysis. Identified themes were "difficulties in keeping up with peers" and "being and feeling different from peers". Furthermore, an adolescent Marfan syndrome-specific International Classification of Functioning, Disability and Health for Children and Youth (ICF-CY) model derived from the data describing the adolescent perceived impact of Marfan syndrome on functioning, disability and its contextual factors. Adolescents perceived problems in keeping up with peers in school, sports, leisure and friendships/relationships, and they could not meet work requirements. Moreover, participants perceived to differ from peers due to their appearance and disability. Contextual factors: coping with Marfan syndrome, self-esteem/image, knowledge about Marfan syndrome, support from family/friends/teachers, ability to express needs and peer-group acceptation acted individually as barrier or facilitator for identified themes.Conclusion: Adolescents with Marfan syndrome perceived limitations and restrictions in (physical) functioning. They perceived problems in keeping up with peers and perceived to differ from peers due to their appearance and disability. This warrants awareness and tailored physical, psychosocial, educational and environmental support programmes to improve (physical) functioning and empowerment of adolescents with Marfan syndrome.What is known:• Marfan syndrome is a hereditary connective tissue disorder.• Marfan syndrome affects multiple systems.What is new:• Adolescents with Marfan syndrome perceive (1) problems in keeping up with peers in school, sports, leisure, friendships/relationships and work (2) to differ from peers due to their appearance and disability.• An adolescent Marfan syndrome-specific International Classification of Functioning, Disability and Health for Children and Youth model derived from the data describing the adolescent perceived impact of Marfan syndrome on functioning, disability and contextual factors.

Marfan syndrome in childhood: parents' perspectives of the impact on daily functioning of children, parents and family; a qualitative study.

BACKGROUND: Marfan syndrome (MFS) is a heritable connective tissue disease caused by a defect in FBN1. The diagnosis is based on the revised Ghent criteria. The main features involve the cardiovascular, musculoskeletal, ophthalmic, pulmonary systems and facial features. Although the clinical manifestations of MFS in children are thoroughly addressed in several studies, literature on the impact of MFS on daily functioning is restricted to pediatric advice on sports and leisure participation. Therefore, the full impact of MFS on daily functioning remains unclear. The aim of this qualitative study was to explore parents' perspectives on the impact of MFS on daily functioning of children with MFS aged 4-12 years, themselves and family regarding functional performance, activities, participation, personal and environmental factors, and disease burden. METHODS: In this qualitative study parents participated in individual semi-structured interviews (n = 10) and 3 focus groups (n = 5, n = 5 and n = 6). Meetings were transcribed, and data were analyzed using thematic analysis. Meaningful concepts were coded, and concepts concerning children with MFS were linked to the International Classification of Functioning, Disability and Health for Children and Youth. Thereafter themes were identified and interpreted. RESULTS: Parents reported their children could not keep up with peers because of fatigue, pain and physical impairments. Children experienced participation restrictions in school, sports, play and other leisure activities. Parents reported their child as being different due to physical appearance, which provoked unsupportive attitudes. Parental burden was caused by high care needs, lack of support, a limited social life, and concerns about the child's development. Family burden was caused by adjusted and complex family schedules, other family members with MFS, and reproductive planning decision-making, whereas family cohesiveness and caring were positively perceived factors. CONCLUSIONS: Parents perceived a large impact of MFS on daily functioning of their children with MFS, themselves and their family. More awareness among all professionals involved in the care of children with MFS and their families is needed so that professionals can address their support needs and provide tailored interventions, rehabilitation and/or educational programs to empower and improve daily functioning of the children, parents and family.

Comprehending the impact of low vision on the lives of children and adolescents: a qualitative approach.

PURPOSE: To develop a comprehensive, conceptual model detailing the aspects of a child's life (<18 years) that are affected by low vision. METHODS: Three stakeholders were involved in the developmental process of the conceptual model: children and adolescents with a visual impairment (n = 40), parents of children with a visual impairment (n = 25) and professionals of multidisciplinary rehabilitation centres and specialised schools (n = 25). Qualitative methods including focus groups, online and face-to-face brainstorming sessions and concept mapping were used to investigate the impact of visual impairment on the lives of children and adolescents and to create the conceptual model. To aid interpretation of the large age range, four age-bands were formed. RESULTS: For each age-band (0-2, 3-6, 7-12 and 13-17 years), a total of 153, 200, 297 and 306 statements were generated by all stakeholders, respectively. The conceptual models show that low vision affects the sensorial development as well as the physical, psychological and social well-being of children and adolescents. In addition, identified external factors (i.e. education/employment and parental influence) can either facilitate or hinder participation. CONCLUSIONS: The developed model shows which life aspects of children are affected by low vision. The needs identified by children and adolescents correspond not entirely to the perspective of parents and low vision professionals. Future research should focus on developing and validating a new questionnaire based on the conceptual model. This will aid goal setting, rehabilitation referral and the accomplishment of developmental milestones and life transitions of children and adolescents with a visual impairment, ultimately improving their participation and quality of life.

The International Classification of Functioning, Disability and Health: Accuracy in Aquatic Activities Reports among Children with Developmental Delay.

Functioning, as described in the International Classification of Functioning, Disability and Health (ICF), increasingly raises interest in the world of child rehabilitation, especially because its application empowers patients and parents by not putting the emphasis on disability in terms of the medical diagnosis but on the person's lived experience and the level of functioning that might be achieved. However, this requires the correct understanding and application of the ICF framework to overcome differences in the often locally used models or the understanding of disability, including mental aspects. To evaluate the level of accurate use and understanding of the ICF, a survey was performed on studies of aquatic activities in children aged 6-12 with developmental delay published between the years 2010 and 2020. In the evaluation, 92 articles were found that matched the initial keywords (aquatic activities and children with developmental delay). Surprisingly, 81 articles were excluded for not referring to the ICF model at all. The evaluation was performed by methodological critical reading according to the ICF reporting criteria. The conclusion of this review is that despite the rising awareness in the field of AA, the ICF is used inaccurately and often not according to the model's biopsychosocial principles. For the ICF to become a guiding tool in evaluations and goal-setting for aquatic activity, the level of knowledge and understanding of the framework and language needs to be increased via curricula and studies on the effect of interventions on children with developmental delay. Even more so, the level of understanding on how to apply functioning among instructors and researchers working in the aquatic environment needs to be increased.

Early Interventions for Infants at Risk for Developmental Impairment: The South Asian Perspective.

Majority of under-five children with developmental disabilities live in low- and middle-income countries (LMIC). A considerable proportion of disabilities results from perinatal adversities. The neonatal and infant mortality rates in India, Bangladesh, and Sri Lanka have improved over the last two decades, implying survival of infants at risk for developmental impairments. The need to thrive beyond survival is a well-recognized concept and it is imperative to establish high-risk infant follow-up (HRIF) programmes to capture these infants within the first 1000 d of life. Many challenges are present within the LMICs to identify infants at risk and to ensure early intervention (EI) during the window of optimal neural plasticity. However, it is essential to acknowledge the strengths within such systems to understand the impact of these programmes and packages on the activity and participation of these infants and their families. The International Classification of Functioning, Health and Disability for Children and Youth (ICF-CY) version is a holistic framework that will enable the families, clinicians, and policymakers to measure the impact of these interventions. Though all three countries have national policies to reach for high-risk infants, there is lack of published evidence on the successful implementation of such strategies. Therefore, it is timely to establish universally accessible, culturally appropriate and sustainable HRIF programmes. It is also recommended to measure the outcomes of such programmes based on the ICF-CY to understand the impact on the activity and participation of children in South Asia.

Applying the ICF-CY in visually impaired rehabilitation: a case report in China.

The model provided by the International Classification of Functioning, Disability and Health (ICF) is used to describe, classify and measure function in both health care practice and research. ICF for Children and Youth (ICF-CY) has not been applied to the rehabilitation of patients with visual impairment. The purpose of this case report is to describe the process of evaluation and treatment of low vision patients based on ICF-CY models. The patient was a 9-year-old girl. The diagnosis included retinopathy of prematurity (ROP) (OU), secondary glaucoma after iridectomy (OD), keratoleukoma (OD), retinal detachment (OS), strabismus postoperation (OU), nystagmus. The patient complained of being unable to see clearly, of fear of falling down stairs and of being unable to study normally. The ICF-CY framework is used to assess the overall function and disability of this girl. We provided visual devices and instruction to improve the body structure and function, mobility restriction and environmental factors associated with the cognitive function of patients. The results showed that with the help of devices and the guidance of her parents, friends and health professionals, the patient's cognitive function, learning ability and social ability were significantly improved and her psychological conditions had also been improved. As a result, using the ICF-CY model to evaluate and intervene in patients is helpful for accurately dealing with different functional problems and their correlations.

Following Young Children's Health and Functioning in Everyday Life Through Their Cancer Trajectory.

BACKGROUND: Knowledge of living with childhood cancer, through the trajectory, is sparse. AIM: The aim of this study was to follow young children's health and functioning in everyday life through their cancer trajectory. METHODS: Data were gathered longitudinally from a group of 13 young children and their parents connected to a pediatric oncology unit in Sweden. The International Classification of Functioning, Disability and Health for Children and Youth structure was used to identify difficulties in health and functioning in everyday life, in interview and questionnaire data. Descriptive statistical analysis was performed to show patterns of difficulty over a 3-year period from diagnosis. RESULTS: Difficulties experienced by children declined and changed over time. An increase in difficulties with personal interactions with others and access to and support from health care professionals was seen 2 to 3 years after diagnosis and start of treatment. Similar patterns are seen within individual children's trajectories in relation to diagnosis but individual patterns were seen for each child. CONCLUSIONS AND CLINICAL IMPLICATIONS: Health care professionals need to plan for ongoing contact with school services and information and support pathways, beyond the treatment period. A person-centered philosophy of care is required throughout the cancer trajectory.

The impact on the life quality of children with cerebral palsy of rehabilitation based on the International Classification of Function, Disability and Health for Children and Youth / 中华物理医学与康复杂志

Objective To assess the impact of rehabilitation procedures based on the International Classification of Function,Disability and Health for Children and Youth (ICF-CY) on the life quality of children with cerebral palsy.Methods Sixty children with cerebra] palsy were randomly divided into an observation group and a control group,each of 30.The observation group received an assessment of their physical functioning,physical structure,activity participation and environmental factors,as well as family guidance based on the ICF-CY framework.The control group was evaluated and treated according to traditional methods.The experiment lasted two months.Before the treatment,as well as after one and two months,both groups were evaluated using Barthel index (BI) and the parents' satisfaction was assessed.The two groups' family training was also evaluated after two months of treatment.Results The average BI and parent satisfaction scores of the two groups were not significantly different before the intervention.After one and two months,improvement was observed on both measures in both groups,but the observation groups' ratings were higher at both time points.After the 2 months of treatment there was no significant difference between the two groups in terms of physical functioning,but the average scores on family rehabilitation,activity participation and environment factors were all significantly better for the observation group.Conclusion Treatment based on the ICF-CY framework can more effectively improve the participation of children with cerebral palsy,which should have a positive effect on their life quality.

A comprehensive description of functioning and disability in children with velopharyngeal insufficiency.

UNLABELLED: Children with velopharyngeal insufficiency (VPI) experience functional impairments in a variety of areas that extend beyond the primary physical impairment associated with this disorder. At present, the physical deficits associated with VPI have been studied extensively; however, a comprehensive description of social and communicative participation in this population is needed. Therefore, a biopsychosocial framework such as the International Classification of Functioning, Disability and Health for Children and Youth (ICF-CY), may offer an enhanced understanding of the daily experiences of children with VPI. Specifically, the ICF-CY framework is intended to model complex nonlinear systems, and as such, to describe functioning as the interaction of multiple components from which a limitation in communicative participation may emerge. This paper describes how the ICF-CY framework can be utilized to comprehensively describe functioning and disability in children with VPI by describing the interaction of components of this framework. LEARNING OUTCOMES: As a result of this activity, the reader will be able to: (1) discuss the utility of the ICF-CY in describing the multi-dimensional nature of velopharyngeal insufficiency (VPI); (2) describe interrelationships between functioning and disability in children with VPI; and (3) identify how limitations in communicative participation may emerge from the interaction of components of the ICF-CY in children with VPI.