Heritable Connective Tissue Disorders (HCTD) show an overlap in the physical features that can evolve in childhood. It is unclear to what extent children with HCTD experience burden of disease. This study aims to quantify fatigue, pain, disability and general health with standardized validated questionnaires.METHODS: This observational, multicenter study included 107 children, aged 4-18 years, with Marfan syndrome (MFS), 58%; Loeys-Dietz syndrome (LDS), 7%; Ehlers-Danlos syndromes (EDS), 8%; and hypermobile Ehlers-Danlos syndrome (hEDS), 27%. The assessments included PROMIS Fatigue Parent-Proxy and Pediatric self-report, pain and general health Visual-Analogue-Scales (VAS) and a Childhood Health Assessment Questionnaire (CHAQ).RESULTS: Compared to normative data, the total HCTD-group showed significantly higher parent-rated fatigue T-scores (M = 53 (SD = 12), p = 0.004, d = 0.3), pain VAS scores (M = 2.8 (SD = 3.1), p < 0.001, d = 1.27), general health VAS scores (M = 2.5 (SD = 1.8), p < 0.001, d = 2.04) and CHAQ disability index scores (M = 0.9 (SD = 0.7), p < 0.001, d = 1.23). HCTD-subgroups showed similar results. The most adverse sequels were reported in children with hEDS, whereas the least were reported in those with MFS. Disability showed significant relationships with fatigue (p < 0.001, rs = 0.68), pain (p < 0.001, rs = 0.64) and general health (p < 0.001, rs = 0.59).CONCLUSIONS: Compared to normative data, children and adolescents with HCTD reported increased fatigue, pain, disability and decreased general health, with most differences translating into very large-sized effects. This new knowledge calls for systematic monitoring with standardized validated questionnaires, physical assessments and tailored interventions in clinical care.
Background: Persons with an intellectual disability are at a higher risk of experiencing adversities. The concept of resilience offers promising insights into facilitating personal growth after adversity. The current study aims at providing an overview of the current research on resilience and the way this can contribute to quality of life in people with intellectual disability. Method: A literature review was conducted in the databases PsycINFO and Web of Science. To evaluate the quality of the studies, the Mixed Method Appraisal Tool (MMAT) was used. Results: The themes, autonomy, self-acceptance and physical health, were identified as internal sources of resilience. External sources of resilience can be found within the social network and daily activities. Conclusion: The current overview shows promising results to address resilience in adults with intellectual disability. More research is needed to identify the full range of resiliency factors.
Description: The Neck Pain and Disability Scale (NPDS or NPAD) is a questionnaire aiming to quantify neck pain and disability.1 It is a patient-reported outcome measure for patients with any type of neck pain, of any duration, with or without injury.1,2 It consists of 20 items: three related to pain intensity, four related to emotion and cognition, four related to mobility of the neck, eight related to activity limitations and participation restrictions and one on medication.1,3 Patients respond to each item on a 0 to 5 visual analogue scale of 10 cm. There is also a nine-item short version.4 Feasibility: The NPDS is published and available online (https://mountainphysiotherapy.com.au/wp-content/uploads/2016/08/Neck-Pain-and-Disability-Scale.pdf).1 The NPDS is an easy to use questionnaire that can be completed within 5 to 8 minutes.1,5 There is no training needed to administer the instrument but its validity is compromised if the questionnaire must be read to the patient.2 Higher scores indicate higher severity (0 for normal functioning to 5 for the worst possible situation ‘your’ pain problem has caused you).2 The total score is the sum of scores on the 20 items (0 to 100).1 The maximum acceptable number of missing answers is three (15%).4 Two studies found a minimum important change of 10 points (sensitivity 0.93; specificity 0.83) and 11.5 points (sensibility 0.74; specificity 0.70), respectively.6,7 The NPDS is available in English, Dutch, Finnish, French, German, Italian, Hindi, Iranian, Korean, Turkish, Japanese and Thai. Reliability and validity: Two systematic reviews have evaluated the clinimetric properties of 11 of the translated versions.5,8 The Finnish, German and Italian translations were particularly recommended for use in clinical practice. Face validity was established and content validity was confirmed by an adequate reflection of all aspects of neck pain and disability.1,8 Regarding structural validity, the NPDS is a multidimensional scale, with moderate evidence that the NPDS has a three-factor structure (with explained variance ranging from 63 to 78%): neck dysfunction related to general activities; neck pain and neck-specific function; and cognitive-emotional-behavioural functioning. 4,5,9 A recent overview of four systematic reviews found moderate-quality evidence of high internal consistency (Cronbach’s alphas ranging from 0.86 to 0.93 for the various factors).10 Excellent test-retest reliability was found (ICC of 0.97); however, the studies were considered to be of low quality.3,10 Construct validity (hypotheses-testing) seems adequate when the NPDS is compared with the Neck Disability Index and the Global Assessment of Change with moderate to strong correlations (r = 0.52 to 0.86), based on limited moderate-quality studies.3,11,12 One systematic review reported good responsiveness to change in patients (r = 0.59).12
