| 1. |
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| 2. |
- Anastasopoulou, Stavroula, et al.
(författare)
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Seizures during treatment of childhood acute lymphoblastic leukemia : A population-based cohort study
- 2020
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Ingår i: European journal of paediatric neurology. - : ELSEVIER SCI LTD. - 1090-3798 .- 1532-2130. ; 27, s. 72-77
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Tidskriftsartikel (refereegranskat)abstract
- Background: Seizures are common in children with acute lymphoblastic leukemia (ALL). As ALL survival rates are improving, the challenge to minimize treatment related side effects and late sequelae rises. Here, we studied the frequency, timing, etiology and risk factors of seizures in ALL patients. Methods: The study included children aged 1-17.9 years at diagnosis of B-cell-precursor and T cell ALL who were treated according to the Nordic Society of Pediatric Hematology and Oncology (NOPHO) ALL2008 protocol between 2008 and 2015. Detailed patient data were acquired from the NOPHO ALL2008 registry and by review of medical records. Results: Seizures occurred in 81/1464 (5.5%) patients. The cumulative incidence of seizures at one months was 1.7% (95% CI: 1.2-2.5) and at one year 5.3% (95% CI 4.2-6.5%). Patients aged 10-17.9 years, those with T cell immunophenotype, CNS involvement, or high-risk induction with dexamethasone had higher risk for seizures in univariable analyses. Only age remained a risk factor in multivariable analyses (the cumulative incidence of seizures for patients 10-17.9 years old at one year was 9.0% (95% CI: 6.2-12.9)). Of the 81 patients with seizures, 43 had posterior reversible encephalopathy syndrome (PRES), 15 had isolated seizures, nine had sinus venous thrombosis (SVT), three had stroke-like syndrome, and 11 had other neurotoxicities. Epilepsy diagnosis was reported in totally 11 ALL survivors at last follow up. Conclusion: Seizures are relatively common in ALL patients and occur most often in patients with PRES, SVT, or as an isolated symptom. Older children have higher risk of seizures. (C) 2020 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.
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| 3. |
- Annika, Johansson, et al.
(författare)
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Obstetric brachial plexus palsy - A prospective, population-based study of incidence, recovery and long-term residual impairment at 10 to 12 years of age.
- 2019
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Ingår i: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. - : Elsevier BV. - 1532-2130. ; 23:1, s. 87-93
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Tidskriftsartikel (refereegranskat)abstract
- To assess the long-term outcome and evaluate prognostic factors in obstetric brachial plexus palsy (OBPP).Of all 114 children with OBPP born in western Sweden in 1999-2001, 98 (61 males, 37 females) were invited to participate. A questionnaire on the symptoms of the OBPP was sent out and those with persisting symptoms were examined in terms of muscle strength, range of motion (ROM), activities of daily living (ADL), pain and sensibility at the age of 10-12years. Contact was made by 87 children.The incidence of persisting OBPP at 10-12 years of age was calculated as 19 per 38,749 live births or 0.49 per 1000. Symptoms were reduced muscle strength and ROM in the arm. Eight children reported pain, four had impaired sensibility and ten children described some difficulties in ADL. Muscle strength in forearm supination, shoulder external rotation and elbow flexion at three months of age can be used to predict outcome.Most children with an OBPP recover completely, but one in five has symptoms of the injury at 10-12 years of age. Muscle strength in the arm at three months of age can be used to predict outcome.
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| 4. |
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| 5. |
- Bakke, Kristin A, et al.
(författare)
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Levetiracetam reduces the frequency of interictal epileptiform discharges during NREM sleep in children with ADHD
- 2011
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Ingår i: European journal of paediatric neurology. - : Elsevier BV. - 1090-3798 .- 1532-2130. ; 15:6, s. 532-538
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Symptoms of attention deficit hyperactivity disorder (ADHD) are more common in children with epilepsy than in the general paediatric population. Epileptiform discharges in EEG may be seen in children with ADHD also in those without seizure disorders. Sleep enhances these discharges which may be suppressed by levetiracetam. AIM: To assess the effect of levetiracetam on focal epileptiform discharges during sleep in children with ADHD. METHOD: In this retrospective study a new semi-automatic quantitative method based on the calculation of spike index in 24-h ambulatory EEG recordings was applied. Thirty-five ADHD children, 17 with focal epilepsy, one with generalised epilepsy, and 17 with no seizure disorder were evaluated. Follow-up 24-h EEG recordings were performed after a median time of four months. RESULTS: Mean spike index was 50 prior to levetiracetam treatment and 21 during treatment. Seventeen children had no focal interictal epileptiform discharges in EEG at follow-up. Five children had a more than 50% reduction in spike index. Thus, a more than 50% reduction in spike index was found in 22/35 children (63%). Out of these an improved behaviour was noticed in 13 children (59%). CONCLUSION: This study shows that treatment with levetiracetam reduces interictal epileptiform discharges in children with ADHD. There is a complex relationship between epilepsy, ADHD and epileptiform activity, why it is a need for prospective studies in larger sample sizes, also to ascertain clinical benefits.
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| 6. |
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| 7. |
- Berglund, Anders, et al.
(författare)
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Survival in patients diagnosed with SMA at less than 24 months of age in a population-based setting before, during and after introduction of nusinersen therapy. Experience from Sweden
- 2022
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Ingår i: European journal of paediatric neurology. - : Elsevier. - 1090-3798 .- 1532-2130. ; 40, s. 57-60
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Tidskriftsartikel (refereegranskat)abstract
- Introduction: Clinical trials have demonstrated a positive effect of nusinersen therapy on survival of infants with SMA type 1. However, there is a lack of data outside clinical trials on how the introduction of nusinersen has affected the survival of patients with SMA. We therefore set out to analyse survival in patients diagnosed at less than 24 months before, during and after the introduction of nusinersen in a nationwide population-based real-world setting. Methods: SMA patients diagnosed before the age of 24 months in the time period between February 21, 2000 and December 19, 2019 were identified using ICD-codes, and medical procedures for identification of treatment utilizing information from the public available National Patient Registry held by the National Board of Health and Welfare. Data was divided into 3 different calendar periods (before, during, and after introduction of nusinersen treatment in Sweden). Time to Event analysis was then applied. Results: A total of 155 patients were enrolled in the study, and median follow-up was 1.14 years (inter-quartile range (IQR): 0.27-8.37 years). Data did not provide conclusive evidence that survival differed between the calendar periods (P-value from the log-rank test = 0.419) and while hazards were lower in the middle period, HR 0.70 (95% CI: 0.34-1.47), and 3, HR 0.71 (95% CI: 0.28-1.77) compared to the first period, all confidence in-tervals were wide., However, nusinersen treatment was associated with a decreased mortality rate, HR 0.05 (95% CI: 0.01-0.37). Conclusion: SMA patients receiving nusinersen therapy had a dramatically increased overall survival compared to patients not receiving therapy. This indicates that nusinersen treatment has an effect on survival, in patients diagnosed with SMA, in a nationwide real-world setting. Larger studies are warranted.
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| 8. |
- Brandberg, Göran, et al.
(författare)
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Hypothalamic hamartoma with gelastic seizures in Swedish children and adolescents
- 2004
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Ingår i: European journal of paediatric neurology. - : Elsevier BV. - 1090-3798 .- 1532-2130. ; 8:1, s. 35-44
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Hypothalamic hamartoma with gelastic seizures (HHGS) is an uncommon, often unrecognized, epileptic syndrome with onset of symptoms during childhood. AIM: In order to study the occurrence, clinical symptoms and different investigations of HHGS in Swedish children and adolescents, a nationwide survey was undertaken. Methods. Twelve patients, three females, aged 5 to 19 years were identified and their hospital records reviewed. MRI examinations were reinvestigated. RESULTS: Gelastic seizures were noted before the age of six months in seven patients in at least three as early as the neonatal period. During the course of disease one or more other seizure types developed in 11 patients. Behaviour disorder became subsequently obvious in ten patients, and mental retardation was diagnosed in seven. Precocious puberty was diagnosed in five patients. A total of 46 MRI examinations were performed in 11 patients, revealing hypothalamic tumors, eight of which were drooping with a broad base. Interictal and ictal EEG examinations were pathological in 10 patients with nonspecific results. Nonspecific results were also found on SPECT and PET performed in six and two patients, respectively. Available antiepileptic drugs had little or no effect on gelastic seizures, but some effect on other seizure types. Precocious puberty was treated with a GnRH-agonist. Neurosurgical treatment of the hypothalamic hamartoma, performed in three patients, had a rather good outcome concerning gelastic seizures and behaviour. Vagal nerve stimulation in five patients had no effect. CONCLUSIONS: Review of the literature and experience from this group's own cases confirms that early diagnosis of HHGS is important. Hypothalamic hamartoma should be considered in any child with laughing attacks. MRI investigation is compulsory, and neurosurgery the most important treatment.
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| 9. |
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| 10. |
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| 11. |
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| 12. |
- Eeg-Olofsson, Orvar, et al.
(författare)
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Duchenne muscular dystrophy and idiopathic hyperCKemia in the same family
- 2008
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Ingår i: European journal of paediatric neurology. - : Elsevier BV. - 1090-3798 .- 1532-2130. ; 12:5, s. 404-7
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Tidskriftsartikel (refereegranskat)abstract
- Familial hyperCKemia is a rare condition, and a combination with Duchenne muscular dystrophy (DMD) is extremely rare. A boy showed muscle weakness from the age of 10 months and presented typical signs of DMD at the age of 18 months. The diagnosis was supported by markedly elevated serum creatine kinase (CK) value as well as by neurophysiological and muscle biopsy findings at the age of 23 months. The diagnosis was confirmed by identification of a stop codon in exon 43 (p.2095Arg>X) of the dystrophin gene. Interestingly, the father and his near relatives had increased serum CK values without any clinical symptoms or signs, nor a defect in caveolin-3 gene. We suggest that the occurrence of familial hyperCKemia may have triggered the early onset of symptoms in our patient.
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| 13. |
- Ehrstedt, Christoffer, et al.
(författare)
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Clinical characteristics and late effects in CNS tumours of childhood : Do not forget long term follow-up of the low grade tumours
- 2016
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Ingår i: European journal of paediatric neurology. - : Elsevier BV. - 1090-3798 .- 1532-2130. ; 20:4, s. 580-587
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Tidskriftsartikel (refereegranskat)abstract
- Aim: To investigate clinical characteristics and late effects of CNS tumours in childhood with a special focus on low-grade tumours, especially low-grade astrocytoma and glib neuronal tumours. Methods: A retrospective population based study was performed at Uppsala University Children's Hospital, a tertiary referral centre for children with CNS tumours. Patients were identified from the National Brain Tumour Registry and the National Epilepsy Surgery Registry. Hospital medical records were analysed for patients with a follow up of >= 5 years after diagnosis. A re-evaluation of the neuro-pathological diagnosis was performed. Results: A total of 193 patients (age 0-17.99 years) during a twelve-year period (1995-2006) were included; 149 survived >= 5 years. Three larger subgroups could be identified: astrocytic, embryonal and glioneuronal tumours. A supratentorial location was found in 52%. Medical late effects were mainly neurological and endocrinological, affecting 81% and 26% of surviving patients. Cognitive late effects were a frequent finding in the whole group but also in low-grade astrocytoma and glioneuronal tumours (53% and 67%). Thirty per cent had some kind of pedagogic support in school. Conclusion: Late effects are common in long-term survivors of CNS tumours in childhood. Low-grade astrocytoma and glioneuronal tumours are no exception, and the findings support the need for long-term follow up.
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| 14. |
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| 15. |
- Erdi-Krausz, Gergo, et al.
(författare)
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Neonatal hypoxic-ischaemic encephalopathy : Motor impairment beyond cerebral palsy
- 2021
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Ingår i: European Journal of Paediatric Neurology. - : Elsevier BV. - 1090-3798. ; 35, s. 74-81
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Tidskriftsartikel (refereegranskat)abstract
- Background: Research investigating neuromotor function in the absence of cerebral palsy (CP) for children who had neonatal HIE is limited. Aims: To investigate school-age neurological and neuromotor function, and correlations with attention, neonatal Magnetic Resonance Imaging (MRI), and neuromotor assessments at toddler age. Methods: Twenty-seven children with neonatal HIE without CP who underwent hypothermia treatment and a comparison group of 20 children were assessed at age 5–7 years for Minor Neurological Dysfunction (MND; simplified Touwen), motor skills (Movement Assessment Battery for Children-2; MABC-2), parental concern over motor function (MABC Checklist), general cognition (Wechsler Preschool and Primary Scale of Intelligence-IV, WPPSI), and attention (DuPaul ADHD Rating Scale). Neurological examination and motor development, using Bayley-3 scales, at age 24-months was extracted from the clinical database. Clinical neonatal MRI was assessed for hypoxic-ischaemic injury. Results: In the HIE group, MND was more prevalent (p = 0.026) and M-ABC performance (total score p = 0.006; balance subtest p = 0.008) was worse; parents were more concerned about children's motor function (p = 0.011). HIE group inattention scores were higher (p = 0.032), which correlated with lower MABC-2 scores (rs = −0.590, p = 0.004). Neurological examination at 24-months correlated with MND (rs = 0.437, p = 0.033); Bayley-3 motor scores did not correlate with M-ABC-2 scores (rs = 368, p = 0.133). Neonatal MRI findings were not associated with school-age MND (rs = 0.140, p = 0.523) or MABC-2 (rs = 0.300, p = 0.165). Conclusions: Children with neonatal HIE, without CP, treated with hypothermia may be more likely to develop MND and motor difficulties than typically developing peers. Inattention may contribute to motor performance. In the absence of CP, neonatal MRI and toddler age assessment of motor development have limited predictive value for school-age outcome. Since this was an exploratory study with a small sample size, findings should be confirmed by a definite larger study.
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| 16. |
- Hagbeg, Bengt, et al.
(författare)
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Odd MECP2-mutated Rett variant : long-term follow-up profile to age 25
- 2003
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Ingår i: European journal of paediatric neurology. - : Elsevier BV. - 1090-3798 .- 1532-2130. ; 7:6, s. 417-421
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Tidskriftsartikel (refereegranskat)abstract
- A 25-year-old MECP2-mutated female with odd developmental and dyspraxic/ataxic features, followed up through two decades, is reported. She does not fit either the classical Rett syndrome or the criteria required for any Rett variant phenotypes so far described. Nevertheless, she belongs clinically to the latter group. This case deserves attention in order, among other things, to provide important clues to better understand the puzzling battery of neuroimpairments and behavioural abnormalities met in classical Rett phenotypes and Rett variants defined thus far.
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| 17. |
- Hallböök, Tove, et al.
(författare)
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Effectiveness of the ketogenic diet used to treat resistant childhood epilepsy in Scandinavia.
- 2015
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Ingår i: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. - : Elsevier BV. - 1532-2130. ; 19:1, s. 29-36
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Tidskriftsartikel (refereegranskat)abstract
- This Scandinavian collaborative retrospective study of children treated with ketogenic diet (KD) highlights indications and effectiveness over two years follow-up.
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| 18. |
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| 19. |
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| 20. |
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| 21. |
- Hjartarson, Helgi Thor, et al.
(författare)
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Intrathecal baclofen treatment an option in X-linked adrenoleukodystrophy
- 2018
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Ingår i: European journal of paediatric neurology. - : Elsevier. - 1090-3798 .- 1532-2130. ; 22:1, s. 178-181
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Tidskriftsartikel (refereegranskat)abstract
- Background: X-linked adrenoleukodystrophy (X-ALD) is a genetic peroxisomal disorder associated with tissue accumulation of very long chain fatty acids (VLCFAs). In approximately one third of affected males, this causes progressive and irreversible damage to the brain white matter. Progress is often rapid with upper motor neuron damage leading to severe spasticity and dystonia. The increased muscle tone is frequently difficult to alleviate with oral drugs. Here, we describe two patients with X-ALD who have received treatment with intrathecal baclofen pumps (ITB). Case study: Both boys had a rapidly progressive cerebral form of the disorder resulting, among other things, in escalating spasticity and dystonia causing severe pain, dramatically reducing their quality of life. Both were treated with a variety of oral medications without adequate relief. Both patients tolerated ITB surgery without complications and the positive clinical effects of treatment with ITB became clear in the following weeks and months, with significantly reduced muscle tone, less pain and better sleep. Moreover, general caretaking became easier. Conclusion: The treatment of spasticity and dystonia in these patients is difficult partly due to the relentless nature of this progressive disorder. In our two patients, ITB has been effective from both a symptomatic and palliative perspective. We recommend that such treatment be considered as an early option for increased muscle tone in boys with the cerebral form of X-ALD. (C) 2017 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.
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| 22. |
- Hjorth, Elin, et al.
(författare)
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Parents' advice to healthcare professionals working with children who have spinal muscular atrophy
- 2018
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Ingår i: European journal of paediatric neurology. - : Elsevier BV. - 1090-3798 .- 1532-2130. ; 22:1, s. 128-134
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Tidskriftsartikel (refereegranskat)abstract
- AIM: To explore parents' advice to healthcare professionals working with children with spinal muscular atrophy (SMA).MATERIALS AND METHODS: This study derives from a Swedish nationwide survey and uses content analysis to make inferences from answers to an open-ended question concerning parent's advice to healthcare professionals. Of eligible parents who had a child born in Sweden between 2000 and 2010, diagnosed with SMA type 1 or 2, and for whom respiratory support was considered in the first year of life, 61 participated in the study (response rate: 87%). Of these, 51 parents answered the question about advice to healthcare professionals working with children with SMA.RESULTS: More than half of the advice from parents was related to professional-family relations. The second most frequent type of advice related to two aspects of knowledge about SMA: desire that healthcare professionals possess knowledge, and desire that they provide knowledge. The parents also had advice concerning support in daily life, both to the parents and to the affected child. Other pieces of advice were related to organization of care and the parents' desire to be involved in the child's care.CONCLUSIONS: Parents advised healthcare professionals to increase their disease-specific knowledge, to treat the parents as experts on their child, and to treat the family with respect, particularly in situations where the child's case is used as an opportunity to improve healthcare professionals' competence. Increased practical support in daily life and a case coordinator is also among parents' advice to healthcare professionals.
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| 23. |
- Jonsson, Pysse, 1976-, et al.
(författare)
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10-year outcome of childhood epilepsy in well-functioning children and adolescents
- 2011
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Ingår i: European journal of paediatric neurology. - : Elsevier BV. - 1090-3798 .- 1532-2130. ; 15:4, s. 331-337
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND A population based study of epilepsy in children from a Swedish county including all children aged 1 month to 16 years was reported in 2006. AIM To describe the medical outcome, seizure types, epilepsy syndromes, treatment, individual and family history in children from this study who were well-functioning in January 1997 and the outcome after 10 years. METHODS Forty-five individuals, 11-21 years, 19 females, and their parents responded to a questionnaire and the hospital records were reviewed. RESULTS At the end of the 10-year period 75.6% of the patients were in remission. Focal seizures and focal seizures with secondary generalization were found in 57.8%. Rolandic epilepsy had been diagnosed in 33.3%, other idiopathic focal epilepsies in 11.0%, cryptogenic and symptomatic focal epilepsies in 22.2%, childhood absence epilepsy in 8.9%, juvenile absence epilepsy and Jeavons syndrome in each 2.2%, West syndrome in 4.4%, and other "generalized" epilepsies in 15.5%. The patients had a history of simple febrile seizures in 15.6% and of primary headache in 24.4%. Monotherapy with antiepileptic drugs was used by 64.4%, and valproate was the most common first drug of choice. A family history of epilepsy was found in 44.4%, febrile seizures in 17.7%, and primary headache in 57.8%. A coincidence of focal and generalized epilepsy phenotypes was found in some families. CONCLUSIONS Longitudinal studies are of importance in epilepsy epidemiology. Our results reflect the selection of only well-functioning individuals with epilepsy from the population based original study.
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| 24. |
- Jonsson, Pysse, 1976-, et al.
(författare)
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Psychological and social outcome of epilepsy in well-functioning children and adolescents. A 10-year follow-up study
- 2014
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Ingår i: European journal of paediatric neurology. - : Elsevier BV. - 1090-3798 .- 1532-2130. ; 18:3, s. 381-390
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Tidskriftsartikel (refereegranskat)abstract
- Background: From a population based study of epilepsy in Swedish children a subgroup designated well-functioning with an epilepsy diagnosis in 1997 was worked up from a medical point of view 10 years later. Aim: To describe the psychological and social outcome in this subgroup. Methods: Thirty-one patients aged 11-22 years and their parents/partners responded to a questionnaire according to Achenbach System of Empirically Based Assessment (ASEBA) to evaluate behavioural and emotional problems, and social competence. Results: Active epilepsy, diagnosed in 32%, was related to attention problems, somatic complaints, and school problems. Polytherapy, used in 16%, was related to attention problems and aggressive behaviour. School problems were found in six of seven children younger than 18 years. Internalizing, externalizing, and 'other' syndromes were found in 29% of the individuals, but a grouping of these syndromes in the clinical range only in two (6.5%), a girl with generalized tonic clonic seizures alone, and a boy with structural focal epilepsy. Both had active epilepsy and were treated with polytherapy. All ten individuals with Rolandic epilepsy were classified as normal. The answers to the ASEBA questionnaire of individuals and parents/partners were inconsistent, and parents generally stated more problems than the individuals. Summary.: This 10-year follow-up study of psychological and social outcome in well-functioning children and adolescents with childhood onset epilepsy shows some emotional, behavioural, and social problems. Thus, early information to increase knowledge about epilepsy and associated psychological co-morbidities in order to decrease risk of low self-esteem, social anxiety, and depression later in life is of importance.
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| 25. |
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| 26. |
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| 27. |
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| 28. |
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| 29. |
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| 30. |
- Källén, Bengt, et al.
(författare)
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Cerebral palsy in children born after in vitro fertilization. Is the risk decreasing?
- 2010
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Ingår i: European journal of paediatric neurology. - : Elsevier Science B.V., Amsterdam. - 1090-3798 .- 1532-2130. ; 14:6, s. 526-530
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Tidskriftsartikel (refereegranskat)abstract
- Background: Infants born after in vitro fertilization (IVF) differ from spontaneously conceived infants in a number of aspects which could increase the risk for future cerebral palsy (CP), e.g., multiple births, preterm births, neonatal complications. Aims: To follow up children conceived by IVF with respect to risk for CP. Methods: Infants born after IVF were identified from all IVF clinics in Sweden 1982-2007. Perinatal characteristics were obtained by linkage with the Medical Birth Register. The presence of CP in children born after IVF and in other children was identified from the Patient Register which contains diagnoses given at hospitalizations or specialist outpatient clinics. The risk for CP after IVF was studied after adjustment for year of birth, maternal age, parity, and smoking, all factors which co-vary both with IVF and with CP. Stratification was made for singletons and multiple births and for various neonatal outcomes. Results: The adjusted odds ratio for CP after IVF was 1.81 (95% confidence interval, 95% CI 1.52-2.13), lower and not statistically significant when singletons or when unlike-sexed twins were analyzed. Stratification for various neonatal characteristics also reduced odds ratios to non-significant levels. For the last few years of the study (2004-2007) when the twinning rate after IVF was less than10%, the odds ratio for CP was 0.97 (95% CI 0.57-1.66). Conclusions: The moderately increased risk for CP was most likely a consequence of an increased risk of neonatal morbidity, notably associated with multiple births.
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| 31. |
- Landfeldt, Erik, et al.
(författare)
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Health-related quality of life of children with spinal muscular atrophy in Sweden : A prospective cohort study in the era of disease-modifying therapy
- 2023
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Ingår i: European journal of paediatric neurology. - : Elsevier. - 1090-3798 .- 1532-2130. ; 46, s. 67-73
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Tidskriftsartikel (refereegranskat)abstract
- The objective of this study was to estimate change over time in health-related quality of life (HRQoL) of children with spinal muscular atrophy (SMA) in Sweden. Children with SMA were identified via the National Patient Register by the National Board of Health and Welfare in Sweden. Patient HRQoL was caregiver proxy-assessed using the Pediatric Quality of Life Inventory 4.0 Generic Core Scales at baseline, as well as at 6, 12, and 18 months of follow-up. Results were stratified by SMA type. Mothers and fathers to 27 children with SMA (mean patient age: 9.17 years; 59% female) participated in the study. All patients received disease-modifying therapy. At baseline, across SMA types, the mean total score was estimated at between 52.68 and 59.19, Physical Functioning score at between 26.39 and 40.34, Emotional Functioning score at between 66.82 and 68.57, Social Functioning score at between 55.00 and 70.45, and School Functioning score at between 70.45 and 78.33. The mean annual total score change was estimated at −2.03 for SMA type I, 4.11 for SMA type II, and 1.12 for SMA type III. In conclusion, we show that SMA has a detrimental impact on HRQoL that extends above and beyond somatic disability. Children with SMA type II experienced a dramatic increase in HRQoL over time, predominantly related to improvement in physical and social functioning. Our data helps quantify the patient burden of disease and adds to the rapidly expanding body of evidence of the effectiveness of recently approved disease-modifying therapies for SMA.
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| 32. |
- Landfeldt, E., et al.
(författare)
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Quality of life of patients with spinal muscular atrophy: A systematic review
- 2019
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Ingår i: European Journal of Paediatric Neurology. - : Elsevier BV. - 1090-3798. ; 23:3, s. 347-356
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Forskningsöversikt (refereegranskat)abstract
- Objectives: To systematically review the literature of quality of life (QoL) of patients with spinal muscular atrophy (SMA), a rare, autosomal-recessive neuromuscular disease associated with extensive morbidity and elevated mortality. Methods: We searched Embase, Web of Science, and PubMed for full-text, English-language articles (published between January 1, 2000 and July 31, 2018) reporting results from studies of QoL of patients with SMA. We excluded review and editorial articles, studies reporting results for samples comprising <5 patients (to allow for meaningful inference), and case reports/qualitative assessments. Results: Of 824 identified articles, 15 met study criteria. Included publications contained data derived from samples from a total of 11 countries and three continents (Europe, North America, and South America). Estimates of the latent trait, primarily derived using the Pediatric Quality of Life Inventory (PedsQL) 4.0 Generic Core Scales and the PedsQL 3.0 Neuromuscular Module, indicated impairment in patient QoL, in particular physical functioning. However, both patient self- and caregiver proxy-assessments varied markedly across studies and subgroups. Among adult individuals, the mean self-assessed EuroQol-5D-3L utility has been estimated at 0.16 for a pooled sample of patients with SMA type I, II, and III, and −0.01 for SMA type II. Little is known of the impact of available treatments, including nusinersen, on patient QoL. Conclusions: Our review show that QoL is impaired in SMA, mainly due to compromised physical health, but also reveal that little is known of the impact of the disease across different phenotypes and clinical interventions. © 2019 European Paediatric Neurology Society
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| 33. |
- Larsson, Katrin, et al.
(författare)
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A population based study of epilepsy in children from a Swedish county
- 2006
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Ingår i: European journal of paediatric neurology. - : Elsevier BV. - 1090-3798 .- 1532-2130. ; 10:3, s. 107-113
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Tidskriftsartikel (refereegranskat)abstract
- Background: Epidemiological studies of childhood epilepsy are of importance to compare incidence and prevalence rates, age distribution, inheritance, seizure types, epilepsy syndromes and treatment strategies. Aim: To perform an epidemiological study on children with epilepsy in a Swedish county using current ILAE classifications and a recent proposal. Methods: A population-based study was performed using the hospital data register to select children aged 1 month to 16 years with the diagnosis 'convulsions' or 'epilepsy' recognized between January 1996 and December 2000. Only patients with active epilepsy were included. Results: Two hundred and five children met the study criteria on the prevalence day 31st December, 2000. The total prevalence rate was 3.4/1000 with a peak prevalence in the age group 8-11 years. The incidence year 2000 was 40/100,000. Additional neuroimpairments were registered in 47.3%. A majority of the patients, 54.0%, had focal or focal plus secondarily generalized seizures. A named syndrome could be diagnosed in 49.4%. The most common. syndrome was rolandic epilepsy occurring in 17.0%. Childhood absence epilepsy occurred in 5.9%. Different disorders associated with epilepsy were found in 31.7%. The most common associated phenomenon was malformation of cortical development. Antiepileptic drug treatment was used in 81.0%, the most common first choice being valproate. Conclusions: The prevalence and incidence rates in this strictly delineated study are lower than those found in other epidemiological studies. Together with many divergences between reported studies concerning frequencies of different items, the results apparently depend on design, e.g. differences in age groups included, inclusion criteria used, and general methodology.
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| 34. |
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| 35. |
- Lövgren, Malin, et al.
(författare)
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Information and treatment decisions in severe Spinal muscular atrophy : A parental follow-up
- 2016
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Ingår i: European journal of paediatric neurology. - : Elsevier BV. - 1090-3798 .- 1532-2130. ; 20:6, s. 830-838
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Tidskriftsartikel (refereegranskat)abstract
- IntroductionThe parents of children with severe spinal muscular atrophy (SMA) face difficult ethical decisions regarding their child's treatment. This study explored the experience of parents of children with severe SMA concerning information and treatment decisions.Material and methodsThis nationwide survey, conducted in 2013, is based on parents of children who were born in Sweden between 2000 and 2010 and later diagnosed with SMA type I or II where respiratory support was considered the first year of life (N = 61, participation rate: 87%). The survey involved parents' perception of the child's care and the questions used in this study covered information given and treatment decisions. Descriptive statistics were used.ResultsNone of the parents reported that the health care professionals made decisions concerning the child's treatment without informing them first, and 80% reported feeling confident about the decisions made. Of the bereaved parents, 11/48 (23%) reported that they got no information about respiratory support, compared to 2/13 (15%) of non-bereaved. Bereaved parents were more likely to report being satisfied with and understanding the information given about the illness and its treatment than non-bereaved parents.ConclusionAll parents reported having been informed before treatment decisions were made and a vast majority reported feeling confident about the decisions. However, a quarter of the parents declined to have received information about respiratory support, which indicates that the parents did not sufficiently understand the available respiratory treatment options, and that their children may not receive the kind of care that is recommended in guidelines.
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| 36. |
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| 37. |
- Nosko, Daniela, 1986-, et al.
(författare)
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Changes in prevalence of non-optimal neurological condition between 6.5 and 12 years in children born extremely preterm
- 2023
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Ingår i: European journal of paediatric neurology. - : Elsevier. - 1090-3798 .- 1532-2130. ; 45, s. 14-18
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Tidskriftsartikel (refereegranskat)abstract
- Aim: To assess prevalence of non-optimal neurological condition and associations with motor function in children born extremely preterm (EPT) up to early adolescence, and to examine potential changes in neurological con-dition between 6.5 and 12 years.Method: A prospective cohort of one hundred six children (EPT n = 62, term n = 44) was assessed at 6.5 and 12 years. Four domains derived from the Touwen Neurological Examination (coordination and balance, posture and muscle tone, reflexes, and nerve function of the eyes and face) were used to assess the presence of a non-optimal neurological condition (defined as the presence of any abnormal domain). The Movement Assessment Battery for Children 2nd ed. was used to evaluate motor function.Results: Twenty-seven children born EPT (44%) were assessed as having a non-optimal neurological condition compared with 4 (9%) in the control group (p=<0.001) at 12 years. Between age 6.5 and 12 years the number of children born EPT with a non-optimal neurological condition decreased from 37 to 27 (p = 0.007). At 12 years these children also had significantly lower MABC-2 total test scores, compared to those with normal neurology: median (range) 57 (32-79) versus 75 (43-99), respectively (p=<0.001). The same was shown for subscale scores; manual dexterity (p=<0.001), aiming/catching (p = 0.004), and balance (p = 0.004).Conclusion: The prevalence of a non-optimal neurological condition reduced with increasing age. However, still, at 12 years, these neurological impairments remained significantly more common in the EPT group than in their term-born peers and was shown to be related to a reduced motor function.
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| 38. |
- Olsson, Ingrid, 1948, et al.
(författare)
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Epilepsy surgery in children with accompanying impairments.
- 2013
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Ingår i: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. - : Elsevier BV. - 1532-2130. ; 17:6, s. 645-650
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Tidskriftsartikel (refereegranskat)abstract
- The aim of this study was to assess seizure outcome 2 years after epilepsy surgery in a consecutive series of paediatric patients, with special focus on children with learning disabilities and other neuroimpairments in addition to the epilepsy. Outcome 2 years after surgery was assessed in 110 of 125 children operated upon for drug resistant epilepsy in Gothenburg 1987-2006. More than half of the children had learning disabilities, 43% motor impairments and 30% a neuropsychiatric diagnosis. Fifty-six per cent of those with an IQ<70 became seizure-free or had a >75% reduction in seizure frequency, and two thirds if the operation was a resection. The corresponding figure in those with more than 100 seizures per month was 15 out of 31, and another seven had a 50-75% reduction in seizure frequency. The message is that learning disability, motor impairment and psychiatric morbidity should not be contraindications for paediatric epilepsy surgery. More than half of the children with learning disabilities had a worthwhile seizure outcome, with even better results after resective surgery. Children with drug resistant epilepsy and additional severe neurological impairments should have the benefit of referral to a tertiary centre for evaluation for epilepsy surgery.
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| 39. |
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| 40. |
- Reilly, Colin, 1977, et al.
(författare)
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Factors associated with quality of life in active childhood epilepsy: A population-based study.
- 2015
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Ingår i: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. - : Elsevier BV. - 1532-2130. ; 19:3, s. 308-313
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Improving health-related quality of life (HRQOL), rather than just reducing seizures, should be the principal goal in comprehensive management of childhood epilepsy. There is a lack of population-based data on predictors of HRQOL in childhood epilepsy. METHODS: The Children with Epilepsy in Sussex Schools (CHESS) study is a prospective, population-based study involving school-aged children (5-15 years) with active epilepsy (on one or more AED and/or had a seizure in the last year) in a defined geographical area in the UK. Eighty-five of 115 (74% of eligible population) children underwent comprehensive psychological assessment including measures of cognition, behaviour, and motor functioning. Parents of the children completed the Quality of Life in Childhood Epilepsy (QOLCE).Clinical data on eligible children was extracted using a standardised pro forma. Linear regression analysis was undertaken to identify factors significantly associated with total Quality of Life in this population. RESULTS: Factors independently significantly associated (p < .05) with total QOLCE scores were seizures before 24 months, cognitive impairment (IQ < 85), anxiety, and parent reported school attendance difficulty. These factors were also significantly associated with total QOLCE when children with IQ < 50 were excluded from analysis. CONCLUSIONS: The majority of factors associated with parent reported HRQOL in active childhood epilepsy are related to neurobehavioural and/or psychosocial aspects of the condition.
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| 41. |
- Ryll, Ulrike C., et al.
(författare)
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Early prediction of unilateral cerebral palsy in infants with asymmetric perinatal brain injury : Model development and internal validation
- 2019
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Ingår i: European journal of paediatric neurology. - : Elsevier. - 1090-3798 .- 1532-2130. ; 23:4, s. 621-628
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Early diagnosis of unilateral cerebral palsy is important after asymmetric perinatal brain injury (APBI). Our objective is to estimate the risk of unilateral cerebral palsy (UCP) in infants with APBI during the first months of life using neuroimaging and clinical assessment.PATIENTS AND METHODS: Prognostic multivariable prediction modeling study including 52 infants (27 males), median gestational age 39.3 weeks with APBI from Sweden (n = 33) and the Netherlands (n = 19).INCLUSION CRITERIA: (1) neonatal MRI within one month after term equivalent age (TEA), (2) Hand Assessment for Infants (HAI) between 3.5 and 4.5 months of (corrected) age. UCP was diagnosed ≥24 months of age. Firth regression with cross-validation was used to construct and internally validate the model to estimate the risk for UCP based on the predictors corticospinal tract (CST) and basal ganglia/thalamus (BGT) involvement, contralesional HAI Each hand sum score (EaHS), gestational age and sex.RESULTS: UCP was diagnosed in 18 infants (35%). Infants who developed UCP more often had involvement of the CST and BGT on neonatal MRI and had lower contralesional HAI EaHS compared to those who did not develop UCP. The final model showed excellent accuracy for UCP prediction between 3.5 and 4.5 months (area under the curve, AUC = 0.980; 95% CI 0.95-1.00).CONCLUSIONS: Combining neonatal MRI, the HAI, gestational age and sex accurately identify the prognostic risk of UCP at 3.5-4.5 months in infants with APBI.
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| 42. |
- Savvidou, Antri, et al.
(författare)
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Drug-induced hyperthermia with rhabdomyolysis in CLN3 disease
- 2022
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Ingår i: European Journal of Paediatric Neurology. - : Elsevier BV. - 1090-3798 .- 1532-2130. ; 39, s. 74-78
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Tidskriftsartikel (refereegranskat)abstract
- CLN3 disease (MIM# 204200), the most prevalent of the neuronal ceroid lipofuscinoses (NCL), is an autosomal recessive disorder with juvenile onset characterized by blindness, epilepsy, dementia, psychiatric manifestations, and motor deterioration. Problems related to behavior, emotions and thought are among the main features. Antidepressant and antipsychotic drugs have been employed with variable results. Neuroleptic malignant syndrome (NMS) has previously been described in two patients with NCL, one with CLN3 disease and one with adult onset NCL of unclear genetic origin. Our aims were to describe the occurrence of drug-induced hyperthermia in pediatric patients with CLN3 disease from West and South Sweden and to delineate the range of associated clinical features. Our study identified four patients presenting with seven episodes of severe drug-induced hyperthermia and either NMS-like or Serotonin syndrome (SS)-like features. Possibly provoking drugs were risperidone, clozapine, olanzapine, haloperidol, quetiapine, and sertraline. The course was atypical, frequently prolonged, associated with rhabdomyolysis and status dystonicus, and resulted in the death of three of the patients. Our study points to a vulnerability to drug-induced hyperthermia in patients with CLN3 disease which we believe could be underreported. Interestingly the proposed pathophysiological mechanisms behind NMS and SS on one hand and CLN3 on the other hand seem to converge in a common mechanism involving dysregulation of the sympathetic nervous system.
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| 43. |
- Sofou, Kalliopi, et al.
(författare)
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Phenotypic and genotypic variability in Alpers syndrome.
- 2012
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Ingår i: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. - : Elsevier BV. - 1532-2130. ; 16:4, s. 379-89
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Tidskriftsartikel (refereegranskat)abstract
- Alpers syndrome is one of the most common phenotypes of mitochondrial disorders in early childhood and has been associated with pathogenic mutations in POLG1.
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| 44. |
- Svedberg, Lena, 1958, et al.
(författare)
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Comparison of impact on mood, health, and daily living experiences of primary caregivers of walking and non-walking children with cerebral palsy and provided community services support.
- 2010
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Ingår i: European journal of paediatric neurology. - : Elsevier BV. - 1532-2130 .- 1090-3798. ; 14:3, s. 239-246
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Tidskriftsartikel (refereegranskat)abstract
- Many children with cerebral palsy (CP), especially non-walkers, were previously reported to have cold extremities, pain, sleeping disorders, constipation, and impaired well-being - besides accompanying impairments. Most children had had one or more of these symptoms for more than 1 year, and the symptoms were largely untreated. This study (1) describes mood, health, and daily life experiences of the children's parents; (2) explains impact that the child's impairments and symptoms have on the family; and (3) investigates community services support. Information in this study was gathered from parents of 106 children, ages 5-16, with CP, who lived in northern Sweden. Compared with parents of walkers, parents with non-walking children and several disorders were more frequently anxious for their children's physical and psychological health; often experienced restricted time for themselves; reported frequent daily living interferences; and stated that their health was affected due to the child's health. 10 percent of all families reported that their need of community services support was unmet. To improve health and to provide good community services support for the entire family, regular follow-up and evaluation of the child's treatment and family support are important.
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| 45. |
- Svedlund, Anna, et al.
(författare)
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Prospective study of growth and bone mass in Swedish children treated with the modified Atkins diet.
- 2019
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Ingår i: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. - : Elsevier BV. - 1532-2130 .- 1090-3798. ; 23:4, s. 629-638
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Tidskriftsartikel (refereegranskat)abstract
- The modified Atkins diet (MAD) is a less restrictive treatment option than the ketogenic diet (KD) for intractable epilepsy and some metabolic conditions. Prolonged KD treatment may decrease bone mineralization and affect linear growth; however, long-term studies of MAD treatment are lacking. This study was designed to assess growth, body composition, and bone mass in children on MAD treatment for 24 months.Thirty-eight patients, mean age (SD) 6.1 years (4.8 years), 21 girls, with intractable epilepsy (n=22), glucose transporter type 1 deficiency syndrome (n=7), or pyruvate dehydrogenase complex deficiency (n=9) were included. Body weight, height, body mass index (BMI), bone mass, and laboratory tests (calcium, phosphorus, magnesium, alkaline phosphatase, cholesterol, 25-hydroxyvitamin D, insulin-like growth factor-I and insulin-like growth factor binding protein 3) were assessed at baseline and after 24 months of MAD treatment.Approximately 50% of the patients responded with more than 50% seizure reduction. Weight and height standard deviation score (SDS) were stable over 24 months, whereas median (minimum - maximum) BMI SDS increased from 0.2 (-3.3 to 4.5) to 0.7 (-0.9 to 2.6), p<0.005. No effects were observed for bone mass (total body, lumbar spine and hip) or fat mass.The MAD was efficient in reducing seizures, and no negative effect was observed on longitudinal growth or bone mass after MAD treatment for 24 months.
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| 46. |
- Svensson, Katarina, et al.
(författare)
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Usability and inter-rater reliability of the NeuroMotion app : A tool in General Movements Assessments
- 2021
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Ingår i: European journal of paediatric neurology. - : Elsevier Science Ltd. - 1090-3798 .- 1532-2130. ; 33, s. 29-35
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Tidskriftsartikel (refereegranskat)abstract
- Background: Early intervention after perinatal brain insults requires early detection of infants with cerebral palsy (CP). General Movements Assessments (GMA) in the fidgety movement period has a high predictive value for CP. Aim: To investigate the NeuroMotionTM apps usability regarding film quality and user experience and to assess the inter-rater reliability of GMA in a neonatal risk group. Methods: GMA, inter-rater reliability and film quality was assessed in a cohort consisting of 37 infants enrolled in a multicentre study of GMA as part of the Swedish neonatal follow-up program for high-risk infants. Some of these infants were filmed twice. For evaluation of user experience 95 parents of 52 infants were addressed with a web-based questionnaire. A GMA expert assessed film quality and performed GMA and three on-site assessors, individually performed GMA. Inter-rater reliability was computed using Krippendorffs alpha (k-alpha). Results: In all, 45 films showed good or excellent quality. The response rate of the questionnaire survey was 40% and revealed predominantly positive perceptions of the NeuroMotionTM app. GMA in 36 infants resulted in substantial agreement (k-alpha = 0.72, 95%CI = 0.3-1.0) between the three on-site assessors consensus and the GMA expert. Inter-rater reliability for GMA between the on-site assessors was moderate (k-alpha = 0.48, 0.18-0.74). Conclusion: The NeuroMotionTM app produces good technical quality films and the app user experience was overall positive. High agreement was observed between the on-site assessors and the GMA expert. The study design is feasible for more extensive GMA studies in cohorts of infants at risk of CP. (c) 2021 The Authors. Published by Elsevier Ltd on behalf of European Paediatric Neurology Society. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).
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| 47. |
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| 48. |
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| 49. |
- Tedroff, K., et al.
(författare)
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Melatonin usage in children and young adults, a registry-based cohort study
- 2022
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Ingår i: European journal of paediatric neurology. - : Elsevier. - 1090-3798 .- 1532-2130. ; 39, s. 30-34
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Tidskriftsartikel (refereegranskat)abstract
- Sleep disorder is common in children and adolescents, particularly in those with attention deficit hyperactivity disorder (ADHD) or autism spectrum disorder (ASD). While non-pharmacological treatment is first line, occasionally an add-on of an oral drug is needed. The endogenous hormone melatonin is increasingly used for sleep disorders in children and adolescents. In this registry-based cohort study we follow dispensation of melatonin in young individuals, 0-25 years of age, in Stockholm, Sweden during 2016-2019. In all 9980 individuals, were dispensed melatonin in 2016 and followed for 3 years. Child psychiatrist was the most common prescribing specialty, 55% of all prescriptions. Only 20% had a recorded diagnosis of sleep disorder. The majority, 65% had a neuro psychiatric diagnose. Half of the individuals had at least 4 prescribed drugs dispensed during the follow-up. Almost half of our cohort were dispensed melatonin during the entire study period and doses and volumes of drug dispensed increased by 50 and 100%, respectively. Continuous medication was most common among children 6-12 years, where 7 out of 10 individuals were still adherent after three years. As long-term safety data is lacking, we find this concerning, and this illustrates the need of long-term follow-up of melatonin use in children and young individuals.
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| 50. |
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