Health related quality of life measure in systemic pediatric rheumatic diseases and its translation to different languages: an international collaboration

Background: Rheumatic diseases in children are associated with significant morbidity and poor health-related quality of life (HRQOL). There is no health-related quality of life (HRQOL) scale available specifically for children with less common rheumatic diseases. These diseases share several features with systemic lupus erythematosus (SLE) such as their chronic episodic nature, multi-systemic involvement, and the need for immunosuppressive medications. HRQOL scale developed for pediatric SLE will likely be applicable to children with systemic inflammatory diseases.Findings: We adapted Simple Measure of Impact of Lupus Erythematosus in Youngsters (SMILEY (c)) to Simple Measure of Impact of Illness in Youngsters (SMILY (c)-Illness) and had it reviewed by pediatric rheumatologists for its appropriateness and cultural suitability. We tested SMILY (c)-Illness in patients with inflammatory rheumatic diseases and then translated it into 28 languages. Nineteen children (79% female, n= 15) and 17 parents participated. the mean age was 12 +/- 4 years, with median disease duration of 21 months (1-172 months). We translated SMILY (c)-Illness into the following 28 languages: Danish, Dutch, French (France), English (UK), German (Germany), German (Austria), German (Switzerland), Hebrew, Italian, Portuguese (Brazil), Slovene, Spanish (USA and Puerto Rico), Spanish (Spain), Spanish (Argentina), Spanish (Mexico), Spanish (Venezuela), Turkish, Afrikaans, Arabic (Saudi Arabia), Arabic (Egypt), Czech, Greek, Hindi, Hungarian, Japanese, Romanian, Serbian and Xhosa.Conclusion: SMILY (c)-Illness is a brief, easy to administer and score HRQOL scale for children with systemic rheumatic diseases. It is suitable for use across different age groups and literacy levels. SMILY (c)-Illness with its available translations may be used as useful adjuncts to clinical practice and research.Rutgers State Univ, Robert Wood Johnson Med Sch, New Brunswick, NJ 08903 USARutgers State Univ, Child Hlth Inst New Jersey, New Brunswick, NJ 08901 USAHosp Special Surg, New York, NY 10021 USAUniv Michigan, Ann Arbor, MI 48109 USARed Cross War Mem Childrens Hosp, Cape Town, South AfricaAin Shams Univ, Pediat Allergy Immunol & Rheumatol Unit, Cairo, EgyptAin Shams Univ, Pediat Rheumatol Pediat Allergy Immunol & Rheum, Cairo, EgyptKing Faisal Specialist Hosp & Res Ctr, Riyadh 11211, Saudi ArabiaCharles Univ Prague, Prague, Czech RepublicGen Univ Hosp, Prague, Czech RepublicUniv Hosp Motol, Dept Pediat, Prague, Czech RepublicAarhus Univ, Hosp Skejby, Aarhus, DenmarkRigshosp, Juliane Marie Ctr, DK-2100 Copenhagen, DenmarkUniv Med Ctr, Dept Pediat Immunol, Utrecht, NetherlandsWilhelmina Childrens Hosp, Utrecht, NetherlandsGreat Ormond St Hosp Sick Children, Children NHS Fdn Trust, Renal Unit, London, EnglandLyon Univ, Hosp Civils Lyon, Rheumatol & Dermatol Dept, Lyon, FranceMed Univ Innsbruck, A-6020 Innsbruck, AustriaPrim Univ Doz, Bregenz, AustriaHamburg Ctr Pediat & Adolescence Rheumatol, Hamburg, GermanyAsklepios Clin Sankt, Augustin, GermanyUniv Zurich, Childrens Hosp, Zurich, SwitzerlandAristotle Univ Thessaloniki, Pediat Immunol & Rheumatol Referral Ctr, GR-54006 Thessaloniki, GreeceIsrael Meir Hosp, Kefar Sava, IsraelSanjay Gandhi Postgrad Inst Med Sci, Lucknow, Uttar Pradesh, IndiaSemmelweis Univ, H-1085 Budapest, HungaryAnna Meyer Hosp, Florence, ItalyUniv Siena, Res Ctr System Autoimmune & Autoinflammatory Dis, I-53100 Siena, ItalyUniv Florence, Florence, ItalyOsped Pediat Bambino Gesu, IRCCS, Pediat Rheumatol Unit, Rome, ItalyUniv Genoa Pediat II Reumatol, Ist G Gaslini EULAR, Ctr Excellence Rheumatol, Genoa, ItalyUniv Cattolica Sacro Cuore, Inst Pediat, Rome, ItalyUniv Padua, Dept Pediat, Pediat Rheumatol Unit, Padua, ItalyYokohama City Univ, Sch Med, Yokohama, Kanagawa 232, JapanUniv Estadual Paulista, UNESP, Botucatu, SP, BrazilUniversidade Federal de São Paulo, Dept Pediat, São Paulo, BrazilUniv Estadual Campinas, Dept Med, Campinas, SP, BrazilUniv Fed Rio de Janeiro, Dept Pediat, Rio de Janeiro, BrazilUniv Estado do, Adolescent Hlth Care Unit, Div Pediat Rheumatol, Rio de Janeiro, BrazilUniv São Paulo, Fac Med, Childrens Inst, Dept Pediat,Pediat Rheumatol Unit, São Paulo, BrazilChildrens Inst, Pediat Rheumatol Unit, São Paulo, BrazilClin Pediat I, Cluj Napoca, RomaniaInst Rheumatol, Belgrade, SerbiaUniv Childrens Hosp, Univ Med Ctr Ljubljana, Ljubljana, SloveniaHead Rheumatol Hosp Pedro Elizalde, Buenos Aires, DF, ArgentinaHosp Gen Mexico City, Mexico City, DF, MexicoHosp Infantil Mexico Fed Gomez, Mexico City, DF, MexicoHosp San Juan Dios, Barcelona, SpainHosp Univ Valle Hebron, Barcelona, SpainMt Sinai Med Ctr, New York, NY 10029 USAMt Sinai Med Ctr, Miami Beach, FL 33140 USAComplejo Hosp Univ Ruiz & Paez, Bolivar, VenezuelaHacettepe Univ, Dept Pediat, Ankara, TurkeyIstanbul Univ, Cerrahpasa Med Sch, Istanbul, TurkeyFMF Arthrit Vasculitis & Orphan Dis Res Ctr, Inst Hlth Sci, Ankara, TurkeyUniv Calgary, Dept Pediat, Alberta Childrens Hosp, Res Inst, Calgary, AB T2N 1N4, CanadaUniversidade Federal de São Paulo, Dept Pediat, São Paulo, BrazilWeb of Scienc

Health related quality of life measure in systemic pediatric rheumatic diseases and its translation to different languages: an international collaboration

Background: Rheumatic diseases in children are associated with significant morbidity and poor health-related quality of life (HRQOL). There is no health-related quality of life (HRQOL) scale available specifically for children with less common rheumatic diseases. These diseases share several features with systemic lupus erythematosus (SLE) such as their chronic episodic nature, multi-systemic involvement, and the need for immunosuppressive medications. HRQOL scale developed for pediatric SLE will likely be applicable to children with systemic inflammatory diseases

Health related quality of life measure in systemic pediatric rheumatic diseases and its translation to different languages: an international collaboration

BACKGROUND: Rheumatic diseases in children are associated with significant morbidity and poor health-related quality of life (HRQOL). There is no health-related quality of life (HRQOL) scale available specifically for children with less common rheumatic diseases. These diseases share several features with systemic lupus erythematosus (SLE) such as their chronic episodic nature, multi-systemic involvement, and the need for immunosuppressive medications. HRQOL scale developed for pediatric SLE will likely be applicable to children with systemic inflammatory diseases. FINDINGS: We adapted Simple Measure of Impact of Lupus Erythematosus in Youngsters (SMILEY©) to Simple Measure of Impact of Illness in Youngsters (SMILY©-Illness) and had it reviewed by pediatric rheumatologists for its appropriateness and cultural suitability. We tested SMILY©-Illness in patients with inflammatory rheumatic diseases and then translated it into 28 languages. Nineteen children (79% female, n=15) and 17 parents participated. The mean age was 12±4 years, with median disease duration of 21 months (1-172 months). We translated SMILY©-Illness into the following 28 languages: Danish, Dutch, French (France), English (UK), German (Germany), German (Austria), German (Switzerland), Hebrew, Italian, Portuguese (Brazil), Slovene, Spanish (USA and Puerto Rico), Spanish (Spain), Spanish (Argentina), Spanish (Mexico), Spanish (Venezuela), Turkish, Afrikaans, Arabic (Saudi Arabia), Arabic (Egypt), Czech, Greek, Hindi, Hungarian, Japanese, Romanian, Serbian and Xhosa. CONCLUSION: SMILY©-Illness is a brief, easy to administer and score HRQOL scale for children with systemic rheumatic diseases. It is suitable for use across different age groups and literacy levels. SMILY©-Illness with its available translations may be used as useful adjuncts to clinical practice and research

An international SUrvey on non-iNvaSive tecHniques to assess the mIcrocirculation in patients with RayNaud'\u80\u99s phEnomenon (SUNSHINE survey)

To canvas opinion concerning the role of non-invasive techniques in the assessment of patients with Raynaud's phenomenon (Rp) in clinical and research settings: four nailfold capillaroscopy methods [videocapillaroscopy (NVC), dermoscopy, stereomicroscopy, digital USB microscopy], four laser Doppler methods (laser Doppler flowmetry, imaging, anemometry/velocimetry, laser speckle contrast analysis), thermographic imaging, and upper limb arterial Doppler ultrasound. Emails with a link to the survey were sent to physicians from the European Scleroderma Trials and Research group (EUSTAR), the EULAR Study Group on Microcirculation in Rheumatic Diseases (SG_MC/RD) and members of the pediatric rheumatology Email board. The main descriptive analysis related to physicians looking after adult patients, with some analysis also of opinions from paediatric rheumatologists. 106 'adult physicians' responded (a response rate of 25.8%), of whom 68.9% were European, and 81.1% practising for more than 10 years. Nineteen paediatricians responded. The most widely available technique was NVC (72.7%). Nailfold capillaroscopy was most frequently performed by the physician him/herself, using different types of equipment relating to availability. Most rheumatologists reported high levels of appropriateness for NVC in both clinical and research settings for global assessment and differential diagnosis of Rp. Other techniques were less used. Of all the different techniques, nailfold capillaroscopy was the one most used in both clinical and research settings by adult physicians, the majority of whom use NVC in their everyday practice. The low proportion of clinicians using other techniques suggests that these are currently mainly research tools, available only in specialist centres

Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy

Mendelian etiologies for acute encephalopathies in previously healthy children are poorly understood, with the exception of RAN binding protein 2 (RANBP2)–associated acute necrotizing encephalopathy subtype 1 (ANE1). We provide clinical, genetic, and neuroradiological evidence that biallelic variants in ribonuclease inhibitor (RNH1) confer susceptibility to a distinctive ANE subtype. This study aimed to evaluate clinical data, neuroradiological studies, genomic sequencing, and protein immunoblotting results in 8 children from 4 families who experienced acute febrile encephalopathy. All 8 healthy children became acutely encephalopathic during a viral/febrile illness and received a variety of immune modulation treatments. Long-term outcomes varied from death to severe neurologic deficits to normal outcomes. The neuroradiological findings overlapped with ANE but had distinguishing features. All affected children had biallelic predicted damaging variants in RNH1: a subset that was studied had undetectable RNH1 protein. Incomplete penetrance of the RNH1 variants was evident in 1 family. Biallelic variants in RNH1 confer susceptibility to a subtype of ANE (ANE2) in previously healthy children. Intensive immunological treatments may alter outcomes. Genomic sequencing in children with unexplained acute febrile encephalopathy can detect underlying genetic etiologies, such as RNH1, and improve outcomes in the probands and at-risk siblings