a pilot study

Background Parents caring for a child with Cystic Fibrosis (CF) are at high risk for psychological distress and have limited access to psychological care. Therefore, a web-based psychological support program for severely distressed parents of children with CF (WEP-CARE) was developed and evaluated for its feasibility and efficacy. Methods A clinical expert panel developed WEP-CARE based on principles of cognitive-behavioral therapy. This web-based writing therapy comprises nine sessions, tailored for the specific needs of caregivers. The pilot study was conducted as a single-group intervention with pre-post-follow-up design. Out of 31 participants, 23 parents completed the intervention (21 female; mean age 37 years; SD = 6.2 years, range 25 – 48 years). Psychological symptoms and quality of life were assessed online by self-report measures at pre- and post-treatment and were followed up three months later. Results On average, the caregivers’ symptoms of anxiety decreased statistically significant and clinical relevant about five points from an elevated (M = 11.4; SD =2.6) to a normal level (M = 6.7; SD = 2.6; p < .001) between pre and post treatment. Fear of disease progression (p < .001) and symptoms of depression (p = .02) significantly decreased as well. Quality of life significantly improved (p = .01). The effects were maintained at the 3-months follow-up assessment. Conclusions WEP-CARE is feasible and promising regarding its efficacy to improve parental mental health and quality of life

Be on TRAQ – Cross-cultural adaptation of the Transition Readiness Assessment Questionnaire (TRAQ 5.0) and pilot testing of the German Version (TRAQ-GV-15).

Objective: Transfer from pediatric care into the adult health care system is known to be a vulnerable phase in the lives of youth with special health care needs (YSHCN). Recommendations from the literature favor assessment of transition readiness rather than simply pass over YSHCN from pediatric to adult-centered care by the age of 18. Nevertheless, no validated and disease neutral assessment instrument in German exists to date. Hence, our aim was to cross-culturally adapt and to pilot-test a German version of the Transition Readiness Assessment Questionnaire (TRAQ 5.0). We wanted to provide a tool that can be applied broadly during the health care transition (HCT) process of YSHCN. Methods: The development included translating and adapting TRAQ 5.0 to German and conducting a pilot-study with 172 YSHCN between the ages of 14 and 23. Results: Cross-cultural adaptation resulted in the TRAQ-GV-15. Exploratory factor analysis led to a 3 factor-structure. Internal consistency for the overall score was good with a Cronbach’s alpha of 0.82. Age, in contrast to sex, had a significant effect on the TRAQ scoring. The administration of the TRAQ-GV-15 was well received and demonstrated good feasibility. Conclusion: The TRAQ-GV-15 is an easily applicable and clinically usable instrument for assessing transition readiness in German speaking YSHCN prior to HCT

A retrospective study on disease management in children and adolescents with phenylketonuria during the Covid-19 pandemic lockdown in Austria

BACKGROUND In classical phenylketonuria (PKU) phenylalanine (Phe) accumulates due to functional impairment of the enzyme phenylalanine hydroxylase caused by pathogenic variants in the PAH gene. PKU treatment prevents severe cognitive impairment. Blood Phe concentration is the main biochemical monitoring parameter. Between appointments and venous blood sampling, Austrian PKU patients send dried blood spots (DBS) for Phe measurements to their centre. Coronavirus disease-19 (COVID-19), caused by the SARS CoV-2 virus, was classified as a pandemic by the World Health Organization in March 2020. In Austria, two nationwide lockdowns were installed during the first and second pandemic wave with variable regional and national restrictions in between. This retrospective questionnaire study compared the frequency of Phe measurements and Phe concentrations during lockdown with the respective period of the previous year in children and adolescents with PKU and explored potential influencing factors. RESULTS 77 patients (30 female, 47 male; mean age 12.4 [8-19] years in 2020) from five centres were included. The decline of venous samples taken on appointments in 2020 did not reach significance but the number of patients with none or only one DBS tripled from 4 (5.2%) in 2019 to 12 (15.6%) in 2020. Significantly more patients had a decline than a rise in the number of DBS sent in between 2019 and 2020 (p < 0.001; Chi$^{2}$ = 14.79). Especially patients ≥ 16 years sent significantly less DBS in 2020 (T = 156, p = 0.02, r = 0.49). In patients who adhered to DBS measurements, Phe concentrations remained stable. Male or female sex and dietary only versus dietary plus sapropterin treatment did not influence frequency of measurements and median Phe. CONCLUSION During the COVID pandemic, the number of PKU patients who stopped sending DBS to their metabolic centre increased significantly, especially among those older than 16 years. Those who kept up sending DBS maintained stable Phe concentrations. Our follow-up system, which is based on DBS sent in by patients to trigger communication with the metabolic team served adherent patients well. It failed, however, to actively retrieve patients who stopped or reduced Phe measurements

The Benefit of Detecting Reduced Intracellular B12 Activity through Newborn Screening Remains Unclear

Vitamin B12 (B12) deficiency (B12D) can have detrimental effects on early growth and development. The Austrian newborn screening (NBS) program targets inborn errors of cobalamin metabolism and also detects B12D. Of 59 included neonates with B12D suspected by NBS, B12D was not further investigated in 16 (27%) retrospectively identified cases, not confirmed in 28 (48%), and confirmed in 15 (25%) cases. NBS and recall biomarkers were recorded. Age at sampling of the dried blood spots for NBS and the 1st-tier methionine/phenylalanine ratio were the strongest parameters to predict B12D (67.4% correct allocations). No differences between cases with confirmed, unconfirmed, or unknown B12D or differences to norms were observed for growth and psychomotor development (Vineland III scales, phone interviews with parents of children between months 10 and 14 of life). B12 intake was below recommendations in most mothers. NBS can detect reduced intracellular B12 activity. No advantage of NBS detection and treatment regarding infant cognitive development or growth could be proven. Since conspicuous NBS findings cannot be ignored, and to prevent exposing newborns to invasive diagnostics, assessment of maternal B12 status during pregnancy seems advisable

Kooperationsprobleme bei Patienten mit angeborenen Stoffwechselstörungen : Entwicklung eines Fragebogens zur Identifikation von Risikofaktoren und Ergebnisse einer ersten Anwendung an einem Patientenkollektiv

Einleitung: Ziel der vorliegenden Arbeit war es, einen Fragebogen zu entwickeln, mit dessen Hilfe Ursachen für Complianceprobleme bei Patienten mit der angeborenen Stoffwechselstörung Phenylketonurie (PKU), die sich in der Univ. Klinik für Kinder- und Jugendheilkunde Wien in Behandlung befinden, erhoben werden können. Auf den Ergebnissen basierend werden Interventionsstrategien vorgeschlagen. Complianceprobleme bei PKU äußern sich in mangelhaftem Einhalten der Diätvorschriften sowie unregelmäßig stattfindenden Phenylalanin (Phe)-Spiegelkontrollen. Hohe Phe-Konzentrationen im Blut können zu Entwicklungsverzögerungen bis zu geistiger Retardierung führen. Methode: In den Fragebogen wurden potentielle Einflussfaktoren auf die Compliance inkludiert: Krankheits- und Behandlungswissen, Krankheitsverarbeitung, Kontrollüberzeugungen, Zufriedenheit mit der ärztlichen Betreuung, Gesundheitsüberzeugungen ("Health Beliefs"), soziale Unterstützung, Umgang mit der Erkrankung/Behandlung innerhalb der Familie, Erziehungsstrategien, familiäre Werte und soziodemographische Variablen. Die Fragebogenergebnisse wurden mit Daten zur Diätcompliance, Verhaltenscompliance (regelmäßige Durchführung der Phe-Spiegel Kontrollen) und zum Outcome (Intelligenz) der Patienten in Beziehung gesetzt. Der Fragebogen wurde mit Methoden der klassischen Testtheorie analysiert und die Fragen auf ihre inhaltliche Relevanz bzgl. Unterschieden zwischen Familien mit guter und schlechter Compliance geprüft. Ergebnisse: Der Fragebogen wurde von 47 Familien, in denen (mind.) ein Kind mit PKU im Alter zwischen einem und 14 Jahren lebt, ausgefüllt. Bei ca. 1/3 der Patienten lagen Complianceprobleme hinsichtlich der Diätführung vor, ca. 10 % hatten deutlich ausgeprägte Schwierigkeiten. Die Gruppe mit mangelhafter Verhaltenscompliance umfasste zum Untersuchungszeitpunkt fast 2/3 der Patienten. Der durchschnittliche Intelligenzquotient der Patienten in der vorliegenden Studie entsprach jenem der Normalbevölkerung. 22% der Kinder hatten unterdurchschnittliche Ergebnisse erzielt, keines wies eine intellektuelle Behinderung nach ICD 10 auf. Bzgl. der Diätcompliance zeigten sich Zusammenhänge zwischen einem generellen Verzicht der Familie auf Produkte, die das Kind nicht essen darf sowie einem depressiven Krankheitsverarbeitungsstil und Complianceproblemen. Im Fall einer sehr schlechten Diätcompliance besaßen weiters eine ausschließlich emotionale Reaktion auf hohe Phe-Werte des Kindes, ein erhöhter Glaube an die Schicksalshaftigkeit des Krankheitsverlaufes sowie eine höhere Schulbildung des Vaters Erklärungswert. Bzgl. der Verhaltenscompliance zeigten sich kaum Zusammenhänge zu den Fragebogenergebnissen, einzig ein höheres Alter des Kindes wurde als Risikofaktor identifiziert. Schlussfolgerungen: Auf Basis von methodischen und inhaltlichen Überlegungen wurde der Fragebogen revidiert und gekürzt, sodass er für den klinischen Einsatz praktikabel ist. Dies ermöglicht es, individuelle Risikofaktoren zu identifizieren und mehrdimensionale maßgeschneiderte Interventionen anzubieten, wie z. B. Durchführung von Patientenschulungsmaßnahmen, psychologische Begleitung im Falle eines depressiven Verarbeitungsstils und Beratung der Eltern, wie sie ihr Kind in der Diätführung unterstützen können.Objective: Aim of the present dissertation was the development of a questionnaire to identify reasons for difficulties of compliance in patients with the inborn error of metabolism phenylketonuria (PKU) at the University Children's Hospital Vienna. Consequently, intervention strategies were devised. Difficulties of compliance in PKU mainly consist of insufficient observation of dietary as well as irregular controls of phenylalanine (phe) blood levels. High phe concentrations may lead to developmental delay and mental retardation. Methods: The questionnaires were designed to evaluate potential factors to influence compliance, i.e. knowledge about the medical condition and treatment schedule, coping strategies, locus of control, satisfaction with medical care, health beliefs, support by social network, handling of the condition and therapy within the family, educational methods, family values and socio-demographic variables. Questionnaire results were related to variables referring to adherence to dietary, behavioural compliance (regular control of blood phe - levels) and outcome (intelligence). The questionnaire was analysed using standard methods of classical test theory. Questions were also evaluated for their relevance referring to differences between families with good versus bad compliance. Results: The questionnaire was completed by 47 families who had at least one child with PKU between one and fourteen years. About one third of all patients showed difficulties adhering to their diet, 10 % showed severe difficulties. Almost two thirds displayed insufficient behavioural compliance. The patients' IQ corresponded to the normal population. 22 % of the children had below average intelligence but no one fulfilled the criteria for intellectual impairment as defined by ICD 10. A significant connection between a family's general abdication of products the child is not allowed to eat, a depressive style of disease processing and difficulties with compliance was found. Severe compliance problems concerning diet were related to an exclusively emotional reaction to high child phe-levels, an increased belief in fate of the condition's course as well as higher educational qualifications of the fathers. Few variables could be identified to influence behavioural compliance apart from higher age of the child. Conclusion: The questionnaire was revised and shortened on the basis of methodological considerations and in regard to content so that it is now practicable for clinical use. This will allow for identifying potential risk factors and consequently offer multidimensional, individually tailored interventions, e.g. educational training courses for the patient, psychological intervention in case of depressive processing styles or counselling parents on how to best support their child in keeping to their dietary.Marion HerleAbweichender Titel laut Übersetzung der Verfasserin/des VerfassersWien, Med. Univ., Diss., 2008OeBB(VLID)171433

Cochrane corner: psychological interventions for individuals with cystic fibrosis and their families

Psychological issues associated with cystic fibrosis may arise from the patients’ lifelong disease- and treatment-related burden. This Cochrane Review aimed to determine psychosocial and physical outcomes of psychological interventions. Trial registries, databases and professional networks were used to identify relevant studies. Altogether, 16 studies involving 556 participants were included. They were heterogeneous in their methods, design, target groups, and outcomes. Overall, the current evidence for psychological interventions is insufficient. Preliminary evidence was available for interventions targeting specific aspects of the treatment regimen, such as behavioural nutrition interventions

Suivi des espèces envahissantes marines à Saint Pierre et Miquelon. Année 2014

Initiated in 2013, the present work carried out in 2014 extends the monitoring network focusing on marine invasive exotic species in Saint-Pierre and Miquelon archipelago. In a global context of coastal ecosystems’ changes, accentuated by direct or indirect effects of human activities, it became essential to implement a monitoring survey and to track the expansion of marine invasive species along Saint-Pierre and Miquelon shoreline. Fukui traps and tunicates collectors deployed on different stations as well as the timely completion of observational dives, have provided the following conclusions: several invasive species were again reported within the local marine ecosystem. Those species, i.e., Carcinus maenas, Caprella mutica, Ciona intestinalis, Botryllus schlosseri Botrylloïdes violaceus, Membranipora membranacea, Codium fragile, threaten several local marine ecosystems and aquaculture activities. It seems to be essential to continue this annual monitoring network to assess trends of marine invasive populations on the archipelago. Further works, considering the populations’ genetics in collaboration with Canadian services should also facilitate the identification of human activities impacts on these populations’ movements. This report finally supports a management plan for those introduced organisms to limit and control biopollution impacts on marine environment and socio-economic factors.Le travail mené en 2014, constitue un prolongement de l’état des lieux mené en 2013 sur la thématique des espèces envahissantes marines à Saint-Pierre et Miquelon. Dans un contexte global de modification des écosystèmes côtiers, accentué par l’effet direct ou indirect des activités humaines, il est apparu indispensable de faire un état des lieux complet ainsi qu’un suivi annuel concernant les espèces exotiques envahissantes marines sur les côtes de Saint-Pierre et Miquelon. La pose de casiers Fukui et de collecteurs sur différentes stations ainsi que la réalisation ponctuelle de plongées d’observations ont permis d’établir le constat suivant : plusieurs espèces invasives ont été recensées au sein de l’écosystème marin local. Ces espèces (Carcinus maenas, Caprella mutica, Ciona intestinalis, Botryllus schlosseri Botrylloïdes violaceus, Membranipora membranacea, Codium fragile) menacent alors la stabilité des écosystèmes en place et inquiètent les professionnels de l’aquaculture. Il apparait donc indispensable de poursuivre ce type de suivi annuel afin de déterminer l’évolution des populations d’espèces envahissantes marines sur l’archipel. Des travaux complémentaires sur la génétique des populations, en collaboration avec les services canadiens concernés, devraient également permettre d’identifier l’influence et l’impact des activités humaines sur ces mouvements de populations. Ces actions permettront à terme d’envisager un plan de gestion de ces espèces pour limiter au mieux leur implantation ainsi que leurs impacts sur l’environnement et l’économie

Suivi des espèces envahissantes marines à Saint-Pierre et Miquelon. Année 2013

This work, conducted in 2013 , is a first monitoring of marine invasive species in Saint-Pierre and Miquelon archipelago. In global changing context on coastal ecosystems , accentuated by direct or indirect effects of human activities, it became essential to implement a survey on marine invasive species on Saint-Pierre and Miquelon shoreline. Fukui traps and tunicates collectors implemented on different stations as well as the timely completion of observational dives , have established the following conclusions : several non native species were detected within the local marine ecosystem. This species , such as Carcinus maenas , Ciona intestinalis , Botryllus schlosseri , Caprella mutica , etc. ... threaten some local marine ecosystems and some local aquaculture activities. It seems to be essential to continue this type of annual monitoring to determine trends of marine invasive populations on the archipelago. Further works in collaboration with Canadian services should also allow the identification of human activities impacts on these populations movements. These reports will finally support a management plan for these introduced impacting organisms to limit and control biopollution impacts on marine environment and economy.Ce travail, mené en 2013, constitue un premier suivi des espèces envahissantes marines à Saint-Pierre et Miquelon. Dans un contexte global de modification des écosystèmes côtiers, accentué par l’effet direct ou indirect des activités humaines, il est apparu indispensable de faire un état des lieux concernant les espèces envahissantes marines sur les côtes de Saint-Pierre et Miquelon. La pose de casiers Fukui et de collecteurs sur différentes stations ainsi que la réalisation ponctuelle de plongées d’observations ont permis d’établir le constat suivant : plusieurs espèces jusqu’alors non recensées ont été détectées au sein de l’écosystème marin local. Ces espèces, tel que Carcinus maenas, Ciona intestinalis, Botryllus schlosseri, Caprella mutica, etc… menacent alors la stabilité des écosystèmes en place et inquiètent les professionnels de l’aquaculture. Il apparait donc nécessaire de poursuivre ce type de suivi annuel afin de déterminer l’évolution des populations d’espèces envahissantes marines sur l’archipel. Des travaux complémentaires en collaboration avec les services canadiens concernés devraient également permettre d’identifier l’influence et l’impact des activités humaines sur ces mouvements de populations. Ces actions permettront à terme d’envisager un plan de gestion de ces espèces pour limiter au mieux leur implantation ainsi que leurs impacts sur l’environnement et l’économie