The Creation of an Individualized School Plan for Optimal Inclusion of Students with Osteogenesis Imperfecta.

Aims: The aims of this study were to: (1) synthesize existing evidence regarding the integration of students with osteogenesis imperfecta (OI) into the school setting, (2) tabulate existing school integration tools for OI, and (3) create an individualized school plan to facilitate school integration.

Methods: Guided by the process of developing evidence-informed guidelines, an international, interprofessional, expert task force was convened. The process entailed: (1) reviewing of the literature, (2) developing recommendations, and (3) creating a clinically meaningful, person-focused plan to facilitate the integration and promotion of school inclusivity.

European Achondroplasia Forum Practical Considerations for Following Adults with Achondroplasia.

Achondroplasia is a lifelong condition requiring lifelong management. There is consensus that infants and children with achondroplasia should be managed by a multidisciplinary team experienced in the condition. However, many people are lost to follow-up after the transition from paediatric to adult care, and there is no standardised approach for management in adults, despite the recent availability of international consensus guidelines.

New treatments for children with achondroplasia.

Achondroplasia is the most common form of dwarfism in humans, caused by a common pathogenic variant in the gene encoding fibroblast growth factor receptor 3, FGFR3, which impairs the process of endochondral ossification of the growing skeleton. In this Review, we outline the clinical and genetic hallmarks of achondroplasia and related FGFR3 conditions, the natural history and impact of achondroplasia over a patient's lifespan, and diagnosis and management options. We then focus on the new and emerging drug therapies that target the underlying pathogenesis of this condition.

Cognition and emotional distress in middle-aged and older adults with spina bifida myelomeningocele.

Purpose: To investigate cognitive functioning and emotional distress in adults aged 55 to 68 years old with spina bifida myelomeningocele (SBM), both with and without hydrocephalus. A secondary aim was to explore the associations between psychosocial factors in relation to emotional distress.

Materials And Methods: Cross-sectional study of eleven females and eight males with SBM, five with and twelve without hydrocephalus.

Parental Intervention Program for Preschool children with Rare Diseases - a mixed methods evaluation of parents' experiences and utility.

Background: The purpose of this study was twofold: (i) To assess the parents' experiences and perception of participating in a "Parental Intervention Program for Preschool children with Rare Diseases" (PIPP-RDs). (ii) To evaluate which elements of the PIPP-RDs that the parents emphasized as important for improving their health literacy related to facilitating the transition of their children from kindergarten to school.

Method: A mixed methods evaluation study was conducted ten and eleven months post-intervention, integrating an online quantitative survey combined with individual semi-structured interviews.

European Achondroplasia Forum guiding principles for the detection and management of foramen magnum stenosis.

Foramen magnum stenosis is a serious, and potentially life-threatening complication of achondroplasia. The foramen magnum is smaller in infants with achondroplasia, compared with the general population, and both restricted growth in the first 2 years and premature closure of skull plate synchondroses can contribute to narrowing. Narrowing of the foramen magnum can lead to compression of the brainstem and spinal cord, and result in sleep apnoea and sudden death.

A scoping review of nutrition issues and management strategies in individuals with skeletal dysplasia.

Purpose: Skeletal dysplasia are heterogeneous conditions affecting the skeleton. Common nutrition issues include feeding difficulties, obesity, and metabolic complications. This systematic scoping review aimed to identify key nutrition issues, management strategies, and gaps in knowledge regarding nutrition in skeletal dysplasia.

Fatigue in patients with syndromic heritable thoracic aortic disease: a systematic review of the literature and a qualitative study of patients' experiences and perceptions.

Introduction: The purpose of this study was to explore the literature on fatigue in patients with syndromic heritable thoracic aortic disease (sHTAD), including Marfan syndrome (MFS), Loeys-Dietz syndrome (LDS), vascular Ehlers Danlos syndrome (vEDS) and other sHTADs, critically appraise and synthesize the relevant literature. We also aimed to investigate how adults with sHTAD experience and perceive fatigue, and to discuss clinical implications and direction for further research.

Methods: First, a systematic review was performed by searching the published literature in all relevant databases and other sources until 20th October 2022.

Work participation in adults with rare genetic diseases - a scoping review.

Background: Work participation is a crucial aspect of health outcome and an important part of life for most people with rare genetic diseases. Despite that work participation is a social determinant of health and seems necessary for understanding health behaviours and quality of life, it is an under-researched and under-recognized aspect in many rare diseases. The objectives of this study was to map and describe existing research on work participation, identify research gaps, and point to research agendas in a selection of rare genetic diseases.

The range of publications on arthrogryposis multiplex congenita from 1995 to 2022-A scoping review.

Arthrogryposis multiplex congenita (AMC) is defined as "a group of congenital conditions characterized by joint contractures in two or more body areas." Given its heterogeneity, the definition of AMC has changed multiple times. This scoping review provides an overview of how AMC is defined in scientific publications, on existing knowledge and trends regarding the concept of AMC.

Fat infiltration in the thigh muscles is associated with symptomatic spinal stenosis and reduced physical functioning in adults with achondroplasia.

Background: Symptomatic spinal stenosis is a prevalent complication in adults with achondroplasia. Increased muscle fat infiltration (MFI) and reduced thigh muscle volumes have also been reported, but the pathophysiology is poorly understood. We explored whether the increased MFI and reduced thigh muscle volumes were associated with the presence of symptomatic spinal stenosis and physical functioning.

Factors that influence the provision of home-based rehabilitation services for people needing rehabilitation: a qualitative evidence synthesis.

Background: To increase people's access to rehabilitation services, particularly in the context of the COVID-19 pandemic, we need to explore how the delivery of these services can be adapted. This includes the use of home-based rehabilitation and telerehabilitation. Home-based rehabilitation services may become frequently used options in the recovery process of patients, not only as a solution to accessibility barriers, but as a complement to the usual in-person inpatient rehabilitation provision.

Education and employment status among adults with Loeys-Dietz syndrome and vascular Ehlers-Danlos syndrome in Norway, a questionnaire based study.

Objectives: To describe education level and employment status among adults with Loeys-Dietz syndrome and vascular Ehlers-Danlos syndrome, and explore factors related to work participation.

Materials And Methods: Cross-sectional postal survey in 2018. Individuals with molecularly verified diagnosis were recruited through a National Resource Centre for Rare Disorders.

Optimising care and follow-up of adults with achondroplasia.

Background: Achondroplasia is a genetic condition that can cause complications across the lifespan. While complications in childhood are well documented, the natural history of achondroplasia in adults has, until recently, been relatively lacking, and little is known about the care they receive or how they access it. The European Achondroplasia Forum undertook two exploratory surveys, one for healthcare professionals (HCPs) and one for patient advocacy group (PAG) representatives, to gain an understanding of current practices of the transition process of individuals with achondroplasia from paediatric to adult services and how adults perceive their care.

Optimising the diagnosis and referral of achondroplasia in Europe: European Achondroplasia Forum best practice recommendations.

Background: Achondroplasia is the most common form of skeletal dysplasia, with serious comorbidities and complications that may occur from early infancy to adulthood, requiring lifelong management from a multidisciplinary team expert in the condition The European Achondroplasia Forum guiding principles of management highlight the importance of accurate diagnosis and timely referral to a centre specialised in the management of achondroplasia to fully support individuals with achondroplasia and their families, and to appropriately plan management. The European Achondroplasia Forum undertook an exploratory audit of its Steering Committee to ascertain the current situation in Europe and to understand the potential barriers to timely diagnosis and referral.

Results: Diagnosis of achondroplasia was primarily confirmed prenatally (66.

Literature review and expert opinion on the impact of achondroplasia on medical complications and health-related quality of life and expectations for long-term impact of vosoritide: a modified Delphi study.

Background: Achondroplasia is associated with disproportionate short stature and significant and potentially severe medical complications. Vosoritide is the first medicine to treat the underlying cause of achondroplasia and data from phase 3 and phase 2 extension studies showed effects on growth and body proportions. However, there are currently no long-term data available on the direct impact on endpoints such as medical complications and health-related quality of life (HRQoL).

Pain and fatigue in adults with Loeys-Dietz syndrome and vascular Ehlers-Danlos syndrome, a questionnaire-based study.

The purpose was to study self-reported chronic pain and fatigue symptoms among adults with molecularly verified Loeys-Dietz and vascular Ehlers-Danlos syndrome using a cross-sectional questionnaire design. Seventy adults were invited through a National Resource Centre for Rare Disorders. A study specific questionnaire including Brief Pain Inventory, Standardized Nordic Questionnaire, Fatigue Severity Scale, Hospital Anxiety & Depression Scale, questions on physical activity, and disease burden was used.

Patient involvement in rare diseases research: a scoping review of the literature and mixed method evaluation of Norwegian researchers' experiences and perceptions.

Background: Patients' involvement (PI) in research is recognized as a valuable strategy for increasing the quality, developing more targeted research and to speed up more innovative research dissemination. Nevertheless, patient involvement in rare diseases research (PI-RDR) is scarce. The aims were: To study the Norwegian researchers` experiences and perceptions of PI-RDR and review the literature on PI-RDR.

Using qualitative research to develop an elaboration of the TIDieR checklist for interventions to enhance vaccination communication: short report.

Background: The COVID-19 pandemic has led to an increased interest in communication with the public regarding vaccination. Our recent Cochrane qualitative evidence synthesis points to several factors that could influence the implementation and success of healthcare worker communication with older adults about vaccination. However, it is often difficult to assess whether factors identified as potentially important in qualitative studies have been considered in randomized trials because of poor trial reporting.

Pupillary response in adults with Marfan syndrome and its effect on straylight.

Purpose: The main objective of this study was to examine the pupillary response in patients with Marfan syndrome (MFS) and secondarily to determine whether changes in the pupillary response are associated with the increased disability glare previously shown in the same patient population.

Methods: This study included 60 eyes of 34 patients with MFS diagnosed in accordance with the Ghent-2 criteria and 81 eyes of 44 controls. Pupillary response was measured with a pupillograph and disability glare with a straylight meter.

International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia.

Achondroplasia, the most common skeletal dysplasia, is characterized by a variety of medical, functional and psychosocial challenges across the lifespan. The condition is caused by a common, recurring, gain-of-function mutation in FGFR3, the gene that encodes fibroblast growth factor receptor 3. This mutation leads to impaired endochondral ossification of the human skeleton.

Anxiety, depression, and fatigue in middle-aged and older persons with spina bifida: a cross-sectional study.

Purpose: To study psychological distress and fatigue among persons with spina bifida (SB) 50 years or older and living in Norway.

Methods: In 2017, cross-sectional data were collected ( = 30). The Hospital Anxiety and Depression Scale (HADS) and the Fatigue Severity Scale (FSS) were used.

Hearing loss in Norwegian adults with achondroplasia.

Background: Achondroplasia is the most common form of disproportionate skeletal dysplasia. The condition is caused by a mutation in the FGFR3 gene, affecting endochondral bone growth, including the craniofacial anatomy. Recurrent otitis media infections, chronic middle ear effusion, and hearing loss are common in children with achondroplasia, but few studies have investigated hearing loss in adults with this condition.

Adults with Loeys-Dietz syndrome and vascular Ehlers-Danlos syndrome: A cross-sectional study of life satisfaction.

Objective: To explore life satisfaction among adults with Loeys-Dietz and those with vascular Ehlers-Danlos syndrome.

Design: Postal survey in 2018.

Participants And Methods: Persons with molecularly verified Loeys-Dietz syndrome or vascular Ehlers-Danlos syndrome were recruited through the National Resource Centre for Rare Disorders in Norway.