| 1. |
- Alpman, A, et al.
(författare)
-
Multidrug resistance 1 (MDR1) gene polymorphisms in childhood drug-resistant epilepsy
- 2010
-
Ingår i: Journal of child neurology. - : SAGE Publications. - 1708-8283 .- 0883-0738. ; 25:12, s. 1485-1490
-
Tidskriftsartikel (refereegranskat)abstract
- Despite considerable progress in the pharmacotherapy of epilepsy, more than 30% of patients are reported to be resistant to antiepileptic drugs. Multidrug resistance 1 (MDR1) gene could play a role in drug resistance in epilepsy. In this study, the authors investigated the association between the MDR1 gene polymorphisms, C3435T and G2677AT, and drug resistance epilepsy by using polymerase chain reaction/restriction fragment length polymorphism and pyrosequencing methods in a group of 39 patients with drug-resistant epilepsy and 92 controls. No associations were found between the polymorphisms of the MDR1 gene and drug-resistant epilepsy. Haplotype analysis showed no significant association. Compound genotype analysis showed that CC3435/GG2677 was significantly higher in the control group compared to the patient group. In conclusion, MDR1 polymorphisms investigated in this study are not associated with antiepileptic drug resistance, but the CC3435/GG2677 compound genotype might have an effect on antiepileptic drug response.
|
|
| 2. |
- Horsch, S, et al.
(författare)
-
Late germinal matrix hemorrhage-like lesions in very preterm infants
- 2010
-
Ingår i: Journal of child neurology. - : SAGE Publications. - 1708-8283 .- 0883-0738. ; 25:7, s. 809-814
-
Tidskriftsartikel (refereegranskat)abstract
- In preterm infants, the germinal matrix is a common origin of hemorrhages during the first 7 days of life. Sonographically, germinal matrix hemorrhages present as subventricular echodensities evolving into pseudocysts. Similar lesions have been reported as incidental findings also beyond 7 days of life. They may result from vasculitis and ischemic infarction, rather than hemorrhage. To assess the occurrence, time course, and significance for neurodevelopment of such late germinal matrix hemorrhage-like lesions, we reviewed serial cerebral ultrasound examinations obtained in 86 sequentially admitted infants (gestational age <32 weeks or birth weight <1500 g). Neurodevelopment was assessed at 3 years (Bayley Scales of Infant Development). Nine infants had late isolated germinal matrix hemorrhage-like lesions. Their Psychomotor Development Index scores were significantly lower than that in infants without hemorrhage. Our results suggest that late isolated germinal matrix hemorrhage-like lesions are of clinical significance because of their notable incidence and association with neurodevelopmental outcome.
|
|
| 3. |
- Nordgarden, Hilde, et al.
(författare)
-
Are Botulinum Toxin Injections Into the Major Salivary Glands a Good Treatment Option?
- 2012
-
Ingår i: Journal of Child Neurology. - : Sage Publications. - 0883-0738 .- 1708-8283. ; 27:4, s. 458-464
-
Tidskriftsartikel (refereegranskat)abstract
- There are several treatment options available for drooling; botulinum toxin injections into the major salivary glands are one. There is no consensus as to how many and which glands should be injected. A research project on this topic was terminated because of adverse effects. Individual results and the adverse effects are described and discussed in this article. Six individuals with cerebral palsy were randomly allocated to 2 treatment groups, with five individuals receiving ultrasound-guided injections to parotid and submandibular glands and one receiving injections to the submandibular glands only. Reduction of observed drooling was registered in 3, while 4 patients reported subjective improvement (Visual Analog Scale). Two participants reported adverse effects, including dysphagia, dysarthria, and increased salivary viscosity. Injections with botulinum toxin can be a useful treatment option but there is a risk of adverse effects. Multidisciplinary evaluation and informed discussions with patients/caregivers are important factors in the decision-making process.
|
|
| 4. |
- Rajaei, Saideh, et al.
(författare)
-
Early infantile onset ''congenital'' Rett syndrome variants: Swedish experience through four decades and mutation analysis.
- 2011
-
Ingår i: Journal of child neurology. - : SAGE Publications. - 1708-8283 .- 0883-0738. ; 26:1, s. 65-71
-
Tidskriftsartikel (refereegranskat)abstract
- The early infantile onset ''congenital'' variant of Rett syndrome presents with deviations of behavior from very early infancy. Here, we report on a clinical-genetic study in a collected series of 14 Swedish girls with early infantile onset Rett syndrome phenotype. The clinical diagnosis was based on symptom onset before the age of 6 months and the patients fulfilled 3 or more Rett variant criteria and 5 or more supportive criteria. Genotype-phenotype correlation studies in the CDKL5-gene have recently shown clinical associations to early infantile onset Rett variants. Mutation analyses for both the MECP2-gene and the CDKL5-gene were, therefore, performed. Of interest, we found a large deletion covering 2 exons in MECP2, which underlines the importance of MECP2 mutation screening even for the ''atypical'' early infantile onset variants of Rett syndrome. No early infantile onset Rett syndrome patients in this study had the previously well-known hotspot mutations in the MECP2-gene.
|
|
| 5. |
- Rosenbaum, Peter, et al.
(författare)
-
Classification in childhood disability : focusing on function in the 21st century
- 2014
-
Ingår i: Journal of Child Neurology. - : B.C. Decker. - 0883-0738 .- 1708-8283. ; 29:8, s. 1036-1045
-
Forskningsöversikt (refereegranskat)abstract
- Classification systems in health care are usually based on current understanding of the condition. They are often derived empirically and adopted applying sound principles of measurement science to assess whether they are reliable (consistent) and valid (true) for the purposes to which they are applied. In the past 15 years, the authors have developed and validated classification systems for specific aspects of everyday function in people with cerebral palsy--gross motor function, manual abilities, and communicative function. This article describes the approaches used to conceptualize each aspect of function, develop the tools, and assess their reliability and validity. We report on the utility of each system with respect to clinical applicability, use of these tools for research, and the uptake and impact that they have had around the world. We hope that readers will find these accounts interesting, relevant, and applicable to their daily work with children and youth with disabilities.
|
|
| 6. |
- Sakzewski, Leanne, et al.
(författare)
-
The state of the evidence for intensive upper limb therapy approaches for children with unilateral cerebral palsy
- 2014
-
Ingår i: Journal of Child Neurology. - : B.C. Decker. - 0883-0738 .- 1708-8283. ; 29:8, s. 1077-1090
-
Forskningsöversikt (refereegranskat)abstract
- Children with unilateral cerebral palsy experience difficulties with unimanual and bimanual upper limb function, impacting independence in daily life. Targeted upper limb therapies such as constraint-induced movement therapy, bimanual training, and combined approaches have emerged in the last decade. This article reviews the scientific rationale underpinning these treatments and current evidence to improve upper limb outcomes and goal attainment. Intensive models of therapy achieved modest to strong effects to improve upper limb function compared to usual care. Dose-matched comparisons of bimanual and unimanual training demonstrated similar gains in upper limb outcomes. The optimum timing, dose and impact of repeat episodes of intensive upper limb therapies require further investigation. Characteristics of children who achieve clinically meaningful outcomes remain unclear. Key components of intervention include collaborative goal setting with families and intensive repetitive, incrementally challenging, task practice. Choice of treatment approach should be governed by child/family goals and preferences, individual, and contextual factors.
|
|
| 7. |
- Schertz, M., et al.
(författare)
-
Long-term neurodevelopmental follow-up of children with congenital muscular torticollis
- 2013
-
Ingår i: Journal of Child Neurology. - : Sage Publications. - 0883-0738 .- 1708-8283. ; 28:10, s. 1215-1221
-
Tidskriftsartikel (refereegranskat)abstract
- Congenital muscular torticollis is a common condition, but long-term neurodevelopmental follow-up is lacking. This study reports on neurodevelopmental outcome of 68 children, aged 7 to 9 years, with a history of congenital muscular torticollis, excluding children with torticollis due to other conditions. Thirty-eight children were examined for presence of neurodevelopmental disorders. Telephone interview data were available for an additional 30 children. Of those examined, 22/38 (57.9%) had or were at risk for a developmental disorder (attention-deficit hyperactivity disorder (ADHD), developmental coordination disorder, language impairment, autistic spectrum disorder) on at least 1 of the assessments administered, 23/38 (60.5%) had received developmental treatment during childhood. One child, based on a telephone interview, had a history of developmental treatment. Therefore, 30/68 (44.1%) children of the total sample demonstrated a developmental delay/disorder, currently (22/68) or previously (8/68). Our findings suggest congenital muscular torticollis to be a significant risk factor for later neurodevelopmental conditions with disorders presenting at different stages of development.
|
|
| 8. |
- Sofou, Kalliopi
(författare)
-
Mitochondrial Disease: A Challenge for the Caregiver, the Family, and Society
- 2013
-
Ingår i: Journal of Child Neurology. - : SAGE Publications. - 0883-0738 .- 1708-8283. ; 28:5, s. 663-667
-
Tidskriftsartikel (refereegranskat)abstract
- Mitochondrial diseases represent a genetically and clinically heterogeneous group of inherited metabolic disorders, often resulting in poor functional and survival outcomes for the patient and considerable psychosocial distress for the caregiver. The systematic review undertaken in the present paper emphasizes the critical role of the caregiver in the management of a child with mitochondrial disease, with focus on the burden of mitochondrial disease on the caregiver, the family, and society.
|
|
| 9. |
- Wang, CH, et al.
(författare)
-
Consensus statement on standard of care for congenital muscular dystrophies
- 2010
-
Ingår i: Journal of child neurology. - : SAGE Publications. - 1708-8283 .- 0883-0738. ; 25:12, s. 1559-1581
-
Tidskriftsartikel (refereegranskat)abstract
- Congenital muscular dystrophies are a group of rare neuromuscular disorders with a wide spectrum of clinical phenotypes. Recent advances in understanding the molecular pathogenesis of congenital muscular dystrophy have enabled better diagnosis. However, medical care for patients with congenital muscular dystrophy remains very diverse. Advances in many areas of medical technology have not been adopted in clinical practice. The International Standard of Care Committee for Congenital Muscular Dystrophy was established to identify current care issues, review literature for evidence-based practice, and achieve consensus on care recommendations in 7 areas: diagnosis, neurology, pulmonology, orthopedics/rehabilitation, gastroenterology/ nutrition/speech/oral care, cardiology, and palliative care. To achieve consensus on the care recommendations, 2 separate online surveys were conducted to poll opinions from experts in the field and from congenital muscular dystrophy families. The final consensus was achieved in a 3-day workshop conducted in Brussels, Belgium, in November 2009. This consensus statement describes the care recommendations from this committee.
|
|
| 10. |
- Wang, CH, et al.
(författare)
-
Consensus statement on standard of care for congenital myopathies
- 2012
-
Ingår i: Journal of child neurology. - : SAGE Publications. - 1708-8283 .- 0883-0738. ; 27:3, s. 363-382
-
Tidskriftsartikel (refereegranskat)abstract
- Recent progress in scientific research has facilitated accurate genetic and neuropathological diagnosis of congenital myopathies. However, given their relatively low incidence, congenital myopathies remain unfamiliar to the majority of care providers, and the levels of patient care are extremely variable. This consensus statement aims to provide care guidelines for congenital myopathies. The International Standard of Care Committee for Congenital Myopathies worked through frequent e-mail correspondences, periodic conference calls, 2 rounds of online surveys, and a 3-day workshop to achieve a consensus for diagnostic and clinical care recommendations. The committee includes 59 members from 10 medical disciplines. They are organized into 5 working groups: genetics/diagnosis, neurology, pulmonology, gastroenterology/nutrition/speech/oral care, and orthopedics/rehabilitation. In each care area the authors summarize the committee’s recommendations for symptom assessments and therapeutic interventions. It is the committee’s goal that through these recommendations, patients with congenital myopathies will receive optimal care and improve their disease outcome.
|
|
