Quality of Life and Fitness in Children and Adolescents with Epilepsy (EpiFit).

Objective The objective of this study was to evaluate the correlation between fitness and health-related quality of life (HRQoL) in children with idiopathic epilepsy compared with a healthy matched control group. Methods In this study, 107 children conducted a 6-minute walk test, anthropometric parameters were measured, and HRQoL was assessed using a standardized questionnaire (KINDL-R). Children were divided into two groups: (1) the patient group (n = 48) and (2) the healthy control group (n = 59). Results HRQoL of children with focal epilepsy was greater when compared with healthy children and children with generalized epilepsy. A significant association could be demonstrated for the 6-minute walk distance and mental wellbeing in children with epilepsy but not in healthy children. Furthermore, a negative correlation between the HRQoL and the amount of time spent in front of TV and computer in children with epilepsy and healthy children was seen. In children with focal epilepsy, a significant negative correlation could be shown between school sport and mental wellbeing as well as between school sport and self-esteem. Conclusion HRQoL in children with idiopathic epilepsy is significantly associated with physical fitness and might be positively influenced by an adequate education of patients and parents, a reduction of consumption of computer and TV in combination with age- and disease-adapted physical activity and sports.

A Novel Variant in the HINT1 Gene in a Girl with Autosomal Recessive Axonal Neuropathy with Neuromyotonia: Thorough Neurological Examination Gives the Clue.

We report a girl with autosomal recessive axonal neuropathy with neuromyotonia (ARAN-NM) who presented with asymmetric gait impairment, foot drop, and action myotonia on fast handgrip. Electrophysiological studies showed symmetrical axonal motor greater than sensory neuropathy, and neuromyotonic discharges on needle electromyography. ARAN-NM was confirmed by molecular genetic testing, which revealed a novel homozygous missense variant c.100G > A [p.(Glu34Lys)] in HINT1. This case shows that the diagnosis of ARAN-NM, as a new entity, has to be considered in the differential diagnosis of polyneuropathy in combination with neuromyotonia/action myotonia in children, even with asymmetric clinical presentation.

Successful Treatment of Pediatric Inflammatory Multisystem Syndrome Temporally Associated with COVID-19 (PIMS-TS) with Split Doses of Immunoglobulin G and Estimation of PIMS-TS Incidence in a County District in Southern Germany.

Pediatric inflammatory multisystem syndrome temporally associated with SARS Cov2 (PIMS-TS) is a newly encountered disease in children sharing clinical features with Kawasaki disease, toxic shock syndrome, or macrophage-activating syndrome. Pathogenically, it is associated with immune-mediated post-infectious hyperinflammation leading to short-term myocardial injury with yet unknown long-term outcome. We herein present three cases of PIMS-TS treated in our institution with divided doses of immunoglobulins and high dose acetyl salicylic acid, according to existing Kawasaki disease guidelines. Due to greater weight in adolescents affected and concerns of rheological sequelae following possible hyperviscosity, doses of immunoglobulins were divided and given 24 h apart with good tolerability. All patients recovered rapidly with normalization of previously encountered cardiac manifestations. As diagnosis of PIMS-TS should be made promptly, timing of therapy is of paramount importance for a favorable outcome. To date, no randomized controlled trial data exist concerning treatment recommendations. 1.8% (95% CI: 1.7% to 2.0%) of all children and adolescents in the county district of Ostallgäu were tested positive for SARS CoV-2, incidence of PIMS-TS was 1.7% (95% CI: 0.9% to 3.1%) among SARS CoV-2 positive tested earlier. As the pandemic is still ongoing, rising numbers of PIMS-TS in children might be expected.

Extracorporeal membrane oxygenation as a rescue therapy for leukaemic children with pulmonary failure.

In patients with leukaemia, acute respiratory distress syndrome (ARDS) secondary to intensified chemotherapy-induced immunosuppression is a devastating disorder resulting in high morbidity and mortality. Compared to standard indications for extracorporeal membrane oxygenation (ECMO), cytopenia further increases the risks of infection and bleeding. We describe the use of ECMO in four children with ARDS and leukaemia. Two patients (50%) survived, pulmonary function recovered and they are in prolonged first remission. The two other patients died from ARDS and pulmonary leukaemic infiltration. Although ECMO support is a high-risk setup for nosocomial infection we observed no additional septic episodes. All patients had a highly increased demand for packed platelet and red blood cell transfusions. This increased demand and unmanageable chronic bleeding into both lungs in one patient were probably caused by a combination of coagulopathy from the primary illness, the use of anticoagulants, chemotherapy-induced cytopenia, and a reduced survival rate of platelets and red cells due to permanent contact to foreign surface. We concluded that ECMO is a supportive tool to reduce the incidence of early death, treatment-related mortality and, ultimately, to improve overall survival in childhood leukaemia.

Long-Term HbA1c, Physical Fitness, Nerve Conduction Velocities, and Quality of Life in Children with Type 1 Diabetes Mellitus-A Pilot Study.

OBJECTIVE: The aim of this study was to examine a possible association of HbA1c, quality of life (QoL), fitness, and electrophysiological parameters in children with type 1 diabetes mellitus (T1DM). METHODS: The study population (n = 34) consisted of patients with T1DM (n = 17) and an age-, sex-, and BMI-matched healthy control group (n = 17). HbA1c was obtained from patients with T1DM at time of diagnosis (T0), at 6 months (T6), at 12 months (T12), and at time of study inclusion (Tstudy). QoL was determined with a standardized questionnaire (KINDL-R). All children completed a 6-min walk test (6MWT) to evaluate their fitness level. Electrodiagnostic studies established upper and lower limb motor and sensory nerve conduction velocities (NCV). RESULTS: Higher HbA1c (Tstudy) was associated with lower QoL showing in the subscales self-esteem, friends, and school. Higher HbA1c at (T6) and (T12) was associated with lower QoL in the subscale self-esteem. Based on various subscales, perceived problem areas differed significantly between children and their parents. No differences in fitness level and NCV were found between patients and controls except for a significantly slower median motor NCV in patients. HbA1c was not associated with NCVs at this early stage of disease. CONCLUSIONS: Good metabolic control reflected by adequate HbA1c values seems to be important for a good QoL in children with T1DM. Early HbA1c might be associated with QoL during follow-up.

Health care-associated rotavirus illness in pediatric inpatients in Germany, Austria, and Switzerland.

A longitudinal study of health care-associated transmission of rotaviruses (RVs) in pediatric inpatients 0-48 months old in Austria, Germany, and Switzerland showed that almost one third of all cases occurred in patients 2 months old or younger. The effectiveness of vaccination against RV from 2 months of age onward remains to be evaluated.

Successful treatment of ARDS and severe pulmonary hypertension in a child with Bordetella pertussis infection.

Infection with Bordetella pertussis can cause severe illness with neurological and pulmonary complications in children. Pulmonary hypertension is an early sign of potentially fatal disease and can cause failure of conventional respiratory therapy in severe acute respiratory distress syndrome (ARDS). We report a 4 1/2-year-old boy with B. pertussis infection who developed severe ARDS and pulmonary hypertension. Because of severe neurological signs the patient did not qualify for extracorporal membrane oxygenation (ECMO). After conventional ventilation, surfactant and high frequency oscillation ventilation (HFOV) failed, treatment with nitric oxide (NO) improved oxygenation, allowing recovery without the need for ECMO. The patient survived with few sequelae. Thus, this treatment may be an option in high-risk children who meet the criteria for ECMO but are excluded because of poor neurological status, as in our patient.

Bordetella pertussis and Bordetella parapertussis infection in an Austrian pediatric outpatient clinic.

OBJECTIVE: To determine the proportion of children with an acute cough and laboratory evidence of Bordetella pertussis (B. pertussis) and B. parapertussis infection. METHODS: A prospective study was done, including children aged 0 months to 16 years who attended the outpatient clinic of the Innsbruck University Hospital between November 1995 and December 1998. Diagnosis of B. pertussis infection was made in children with acute cough using culture, PCR and serology; diagnosis of B. parapertussis infection was made with PCR and culture. RESULTS: Of the 183 children enrolled in the study, 71 (38.8%) had a B. pertussis infection. Of these, 7 (3.8%) were diagnosed using culture, 24 (13.1%) with culture and PCR, 30 (16.4%) with PCR alone, and in 10 (5.4%) children, a seroconversion of IgG or IgA against pertussis toxin (PT) was observed. The estimated incidence was 1,432 cases per 100,000 children with a cough. PCR enhanced the detection rate of B. pertussis infection 1.7-fold. The sensitivity of culture tests was 16.9%, and that of PCR 29.5%. Using a positive culture as gold standard, the sensitivity of PCR was 77.4% and its specificity 83.6%. In 1% (2/183) of the patients, an infection with B. parapertussis was only diagnosed with PCR. Positivity of culture, PCR and serology depended on age, disease duration and vaccination history. Of the patients with B. pertussis infection, 62% (44/71) had not been vaccinated and 11.2% were too young to have received the first recommended dose. CONCLUSION: Mainly non- or incompletely vaccinated infants are infected with B. pertussis. Improving the vaccination schedule and enhancing vaccination coverage is essential if infection is to be controlled in this population.

Acute lung failure during mechanical circulatory support.

The use of venoarterial extracorporal membrane oxygenation and ventricular assist-devices in children with end stage heart failure is well established. The use of a bridge-to-bridge strategy leads to excellent survival rates in pediatric patients. We present an adolescent, who acquired acute respiratory failure, due to possible transfusion related lung injury, and who was successfully treated with venovenous extracorporal membrane oxygenation while on ventricular assist-device support.

Hospital-based active surveillance of childhood pertussis in Austria from 1996 to 2003: estimates of incidence and vaccine effectiveness of whole-cell and acellular vaccine.

BACKGROUND: This study was undertaken to analyse the epidemiology of pertussis disease among hospitalised children during the transition period from whole-cell to acellular pertussis vaccine in order to compare the respective estimates of vaccine effectiveness. METHODS: Surveillance was conducted between 1 January 1996 and 31 December 2003. The data originated from a voluntary hospital-based surveillance network including all 44 nationwide paediatric departments. RESULTS: The mean annual hospitalisation incidence for children decreased over time, from 27.9 per 100,000 population in 1996 to 6.8 cases per 100,000 population in 2003. The mean age of reported hospitalised pertussis cases was 4.7 years (+/- 5.5 S.D.), increasing from 4.06 years (+/- 4.6 S.D.) in 1996 to 5.5 years (+/- 8.6 S.D.) in 2003. Estimated vaccine effectiveness (after three vaccine doses) was 79% for the whole-cell versus 92% for the acellular pertussis vaccine. A significantly higher proportion (19%) of fully immunised children among hospitalised patients was observed for the years where only acellular pertussis vaccine was used compared to whole-cell vaccine era (2%) which was, however, mainly due to children above 2 years of age. CONCLUSIONS: Our results imply that despite high vaccination coverage rate, pertussis is still a considerable cause of hospital admissions in children in Austria where it remains to be shown that the novel vaccination strategy of additional booster doses in adolescents and adults will control disease in the long term.

Vaccine strategies of meningococcal disease: results of a 10-year population-based study.

UNLABELLED: Invasive meningococcal disease (IMD) is an important cause of morbidity and mortality in children and adults. This study was conducted to determine a possible increase in IMD in recent years with special interest focused on serogroup C disease. From January 1st 1993 to December 31st 2002, IMD was studied in one million residents of Austria. We used active, population-based surveillance data from the Office of Public Health. A total of 126 patients with positive blood and/or cerebrospinal fluid culture or positive swabs for Neisseria meningitidis were studied. The median age of all patients was 9.5 years (range 1 month to 63 years). The average incidence of all IMD subgroups was 1.05 cases per 100,000 person years and was highest in children 0-4 years old (7.08 cases per 100,000 person years) followed by young adults aged 15 to 19 years (4.35 cases per 100,000 person years). Serogroup C IMD occurred in 1.30 cases/100,000 person years in patients aged 0 to 4 years and in 1.92 cases/100,000 person years in patients aged 15 to 19 years. Overall mortality was 11.1%. There was a significant increase (P =0.001) in IMD due to serogroup B disease within the last 10 years. In contrast, serogroup C disease did not increase during the last decade. CONCLUSION: Currently, we do not recommend mass vaccination against serogroup C disease in Austria, but young adults aged 15 to 19 years display a high incidence of meningococcal C disease. In this age group, vaccination against serogroup C disease should be considered.

Breast deformity in adolescence as a result of pneumothorax drainage during neonatal intensive care.

OBJECTIVE: During intensive care of newborns, a number of invasive techniques may be necessary for resuscitation. The margin of safety between effective treatment and iatrogenic damage is narrow. The objective of this study was to identify and discuss iatrogenic damage in females resulting from treatment of pneumothorax and to give neonatologists anatomically based advice for prevention. PATIENTS AND METHODS: We report 2 female patients (aged 13 and 16 years) born prematurely in whom breast deformity occurred caused by drainage of multiple pneumothoraces during intensive care. In an additional anatomic study, both hemithoraces of 5 newborn female cadavers (n = 10) were dissected to measure the extension of the breast tissue. RESULTS: The anatomic investigations in newborns demonstrate that breast tissue extends vertically from the second or third rib to the sixth rib and from close to the sternal edge medially, almost to the anterior axillary line laterally. CONCLUSION: Psychological distress and corrective surgery because of deformed breasts in adolescent girls who have undergone drainage of pneumothoraces as newborns can be avoided by placing the skin incision in the anterior axillary line, maintaining a distance of 4 to 5 cm inferior to the nipple, and by inserting the chest drain through the fifth or sixth intercostal space during neonatal treatment.

Evidence for genetic heterogeneity in lymphedema-cholestasis syndrome.

Lymphedema-cholestasis syndrome (LCS, Aagenaes syndrome) is the only known form of hereditary lymphedema associated with cholestasis. A locus, LCS1, has recently been mapped to chromosome 15q in a Norwegian kindred. In a consanguine Serbian Romani family with a neonate who had a combination of lymphedema and cholestasis with features atypical for Norwegian LCS, haplotype and linkage analysis of markers spanning the LCS1 region argue that a second LCS locus may exist. The infant may represent an instance of a previously undescribed lymphedema-cholestasis syndrome.