Little emphasis has been accorded to peripheral skin temperature impairments in children with neurological disorders but attention has been paid to the significance of cold extremities (autonomic failure) for well-being and quality of life in adults stroke patients. Therefore, it seems important to investigate skin temperature in children with neurological disorder, especially when their communication is impaired. In the present study, we wanted to objectively verify any skin temperature differences between pre-school children with and without neurological disorders and also ascertain if any correlation existed between skin temperature and physical activity. Skin temperatures in 25 healthy children and 15 children with cerebral or spinal cord damages were assessed using infrared radiation. The temperatures were recorded on the palm and the dorsal surface of the hands and on the sole and dorsal surface of the feet three times at 15-minute intervals over 30min. A significant lower mean skin temperature in all measurement points was seen in non-walking children with cerebral damages compared to healthy controls. Also, the mean skin temperature was significantly lower in all foot measuring points in the children with cerebral damages that were unable to walk compared to those walking. In conclusion, as cold extremities may result in impaired well-being and hypothetically may be associated with other symptoms born by the child, further investigations of thermal dysfunction and autonomic function are of importance and treatment may be warranted.
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Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
tone and motor problems; IND; pharmacologic intervention; gabapentin; involuntary muscle contractions
Description
INTRODUCTION: Gabapentin has been used in the management of neuropathic pain, epilepsy and occasionally movement disorders. METHODS: A four-year retrospective, observational study analysed the use of gabapentin for severe dystonia in children at the Evelina London Children's Hospital. Motor severity was classified according to the Gross Motor Function Classification System (GMFCS), Dystonia Severity Assessment Plan (DSAP) and levels of impairment in activities of daily living were graded according to the WHO International Classification of Functioning, Disability and Health, Children & Youth version (ICF-CY) before and after gabapentin. RESULTS: The majority of the 69 children reported were level 5 GMFCS (non-ambulant). The DSAP grade fell significantly from grade 3 before to grade 1 after gabapentin. Significant improvements in median ICF-CY grades were seen following gabapentin in sleep quality, sleep amount, mood & agreeableness, pain, general muscle tone, involuntary muscle contractions and seating tolerance (p < 0.01 in all areas). A significantly higher mean dose of 18.1 mg/kg/dose (SD: 13.3) for dystonia, compared to 7.61 mg/kg/dose (SD: 4.14) for pain relief without dystonia (z = -2.54, p = 0.011) was noted. DISCUSSION & CONCLUSION: Gabapentin may significantly ameliorate dystonia severity and improve activities of daily living and quality of life in children with severe dystonia.
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tone and motor problems; Chromosome 18q deletion; Lissencephaly Type 1; Metachromatic Leukodystrophy; NCL3; pharmacologic intervention; dronabinol; spasticity
Description
BACKGROUND: Cannabis extracts have a wide therapeutic potential but in many countries they have not been approved for treatment in children so far. OBJECTIVE: We conducted an open, uncontrolled, retrospective study on the administration of dronabinol to determine the value, efficacy, and safety of cannabis-based medicines in the treatment of refractory spasticity in pediatric palliative care. DESIGN AND PARTICIPANTS: Sixteen children, adolescents and young adults having complex neurological conditions with spasticity (aged 1.3-26.6 years, median 12.7 years) were treated with dronabinol by our specialized pediatric palliative care team between 01.12.2010 and 30.04.2015 in a home-care setting. Therapeutic efficacy and side effects were closely monitored. RESULTS: Drops of the 2.5% oily tetrahydrocannabinol solution (dronabinol) were administered. A promising therapeutic effect was seen, mostly due to abolishment or marked improvement of severe, treatment resistant spasticity (n = 12). In two cases the effect could not be determined, two patients did not benefit. The median duration of treatment was 181 days (range 23-1429 days). Dosages to obtain a therapeutic effect varied from 0.08 to 1.0 mg/kg/d with a median of 0.33 mg/kg/d in patients with a documented therapeutic effect. When administered as an escalating dosage scheme, side effects were rare and only consisted in vomiting and restlessness (one patient each). No serious and enduring side effects occurred even in young children and/or over a longer period of time. CONCLUSIONS: In the majority of pediatric palliative patients the treatment with dronabinol showed promising effects in treatment resistant spasticity.
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quality of life; pain; limited mobility; priority journal; school child; spasticity; fatigue; clinical examination; human; article; child; male; clinical article; dystonia; case report; 1309378-01-5 (botulinum toxin A); 1638949-86-6 (botulinum toxin A); 1800016-51-6 (botulinum toxin A); 93384-43-1 (botulinum toxin A); 1134-47-0 (baclofen); adrenoleukodystrophy/dt [Drug Therapy]; adrenoleukodystrophy/su [Surgery]; baclofen/dt [Drug Therapy]; baclofen/po [Oral Drug Administration]; baclofen/tl [Intrathecal Drug Administration]; X chromosome linked disorder/dt [Drug Therapy]; X chromosome linked disorder/su [Surgery]; Addison disease; adrenoleukodystrophy/dt [Drug Therapy]; balance disorder; behavior change; bladder dysfunction; botulinum toxin A; clonus; diplopia; drug dose increase; hearing disorder; hyperpigmentation; intrathecal pump; leukodystrophy; range of motion; strabismus; urinary catheter; visual disorder; X chromosome linked disorder/dt [Drug Therapy]; tone and motor problems; X-linked adrenoleukodystrophy; pharmacologic interventions; intrathecal baclofen; baclofen
Description
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.
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children; Pediatrics; Goals; Disability; reliability; Outcomes; patient selection; validity; Neurosciences & Neurology; cerebral-palsy; follow-up; rehabilitation; globus-pallidus internus; primary generalized dystonia; (DBS); Childhood dystonia; Paediatric deep brain stimulation; pediatric movement-disorders; Secondary dystonia; tone and motor problems; Glutaric acidemia type I; surgical intervention; Deep brain stimulation; BFMDRS
Description
Purpose: Deep brain stimulation is now widely accepted as an effective treatment for children with primary generalized dystonia. More variable results are reported in secondary dystonias and its efficacy in this heterogeneous group has not been fully elucidated. Deep brain stimulation outcomes are typically reported using impairment-focused measures, such as the Burke-Fahn-Marsden Dystonia Rating Scale, which provide little information about function and participation outcomes or changes in non-motor areas. The aim is to demonstrate that in some cases of secondary dystonia, the sole use of impairment level measures, such as the Burke-Fahn-Marsden Dystonia Rating Scale, may be insufficient to fully evaluate outcome following deep brain stimulation. Methods: Six paediatric cases who underwent deep brain stimulation surgery with a minimum of one year follow up were selected on the basis of apparent non-response to deep brain stimulation, defined as a clinically insignificant change in the Burke-Fahn-Marsden Dystonia Movement Scale (<20%), but where other evaluation measures demonstrated clinical efficacy across several domains. Results: Despite no significant change in Burke-Fahn-Marsden Dystonia Rating Scale scores following deep brain stimulation, parallel outcome measures demonstrated significant benefit in a range of child and family-centred goal areas including: pain and comfort, school attendance, seating tolerance, access to assistive technology and in some cases carer burden. Conclusions: Sole use of impairment-focused measures, are limited in scope to evaluate outcome following deep brain stimulation, particularly in secondary dystonias. Systematic study of effects across multiple dimensions of disability is needed to determine what deep brain stimulation offers patients in terms of function, participation, care, comfort and quality of life. Deep brain stimulation may offer meaningful change across multiple domains of functioning, disability and health even in the absence of significant change in dystonia rating scales. (c) 2012 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.
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Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Patients with juvenile neuronal ceroid lipofuscinosis (JNCL) often have severe psychiatric symptoms. These are common in their mid-teens and include such symptoms as anxiety and affective and psychotic disorders. The older antidepressants and antipsychotics do not seem to be effective and often cause many adverse effects. Therefore, we wanted to try the new psychotropic drugs in Finnish patients with JNCL. We also wanted to determine the profile of these drugs in this patient group. Fourteen Finnish patients with JNCL receiving psychotropic drug treatment with citalopram, risperidone, olanzapine or quetiapine, were included. The mean age at initiation of the new psychotropic drugs was 13.8 years. Indications for treatment were psychotic symptoms, affective symptoms, anxiety and an inadequate response to other psychotropic drugs, or even adverse reactions. Information on psychiatric symptoms and current treatment was gathered from interviews and from the medical records. Indications and the clinical outcome of the treatment were determined by a consensus of the assessments by parents and physicians. The psychotropic drugs most commonly used in Finnish patients with JNCL are citalopram and risperidone. The clinical outcome was good or satisfactory in 70%. The adverse effects most commonly reported were fatigue, weight gain and aggravation of extrapyramidal symptoms. Little research has been done in this area and there are no good guidelines for treatment of psychiatric symptoms in patients with JNCL. Therefore, every patient should be treated with the safest and most commonly used drugs in the lowest possible doses.
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The role of the neuropediatrician in pediatric intensive care unit: Diagnosis, therapeutics and major participation in collaborative multidisciplinary deliberations about life-sustaining treatments' withdrawal
Creator
Toulouse J;Hully M;Brossier D;Viallard ML;de Saint Blanquat L;Renolleau S;Kossorotoff M;Desguerre I
Life sutaining treatment;Neuropediatrician;Palliative care;Pediatric intensive care unit;Withdrawal/withholding treatment
Description
BACKGROUND: In Pediatric Intensive Care Unit (PICU) two types of population require the intervention of neuropediatricians (NP): chronic brain diseases' patients who face repetitive and prolonged hospitalizations, and patients with acute brain failure facing the risk of potential neurologic sequelae, and both conditions may result in a limitation of life-sustaining treatments (LLST) decision. OBJECTIVE: To assess NP's involvement in LLST decisions within the PICU of a tertiary hospital. METHOD: Retrospective study of medical reports of patients hospitalized during 2014 in the Necker-Hospital PICU. Patients were selected using keywords ("cardiorespiratory arrest", "death", "withdrawal of treatment", "palliative care", "acute brain failure", or "chronic neurological disease"), and/or if they were assessed by a NP during the hospitalization. Demographic and medical data were analysed, including the NP's assessment and data about Collaborative Multidisciplinary Deliberation (CMD) to discuss potential LLST. RESULTS: Among 1160 children, 274 patients were included and 142 (56%) were assessed by a NP during their hospitalization for diagnosis (n = 55) and/or treatment (n = 95) management. NP was required for 59%-100% of patients with neurological acute failure, and for 14-44% of patients with extra neurological failure. A LLST decision was taken after a CMD for 27 (9.8%) of them, and a NP was involved in 19/27 (70%) of these decisions that occurred during the hospitalization (n = 19) or before (n = 8).12 patients died thereafter the LLST decision (40% of the 30 dead patients). CONCLUSION: NP are clearly involved in the decision-process of LLST for patients admitted in PICU, claiming for close collaboration to improve current practices and the quality of the care provided to children.
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The characteristic clinical presentation, especially the appearance of muscle symptoms, is quite unique in children carrying the mtA8344G mutation. The diagnosis of MERRF syndrome is seldom made in the pediatric age. Fatigue is a common finding in children of pubertal age. Fatigue in combination with recurrent resting muscle pain occurs frequently in the initial phase of various hereditary muscle disorders and in several autoimmune, endocrine and metabolic syndromes. In the absence of obvious biochemical/metabolic abnormalities and in the lack of neurological symptoms the complaints are frequently labelled as fibromyalgia or chronic fatigue syndrome. In patients with behavioural or psychiatric abnormalities one might even start to question the organic etiology of the complaints. We describe a family carrying the classic MTTK mutation with a variable degree of heteroplasmy, presenting in childhood as isolated recurrent muscle pain as the first symptom of the disease.
2007
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Child; Female; Humans; Male; Adult; Data Collection; Parents; Questionnaires; Health Status; adolescent; Preschool; Pain/etiology; Q3 Literature Search; Body Temperature/physiology; Cerebral Palsy/complications/physiopathology; Constipation/etiology; Extremities/blood supply/physiology; Muscle Tonus/physiology; Sleep Disorders/etiology
Description
Cold extremities have been noted in non-walking children with cerebral damage compared with healthy controls. Whether this is a general problem in children with cerebral palsy (CP) and associated with other symptoms is unknown. This study describes accompanying symptoms such as cold extremities, constipation, pain, sleeping disorders and impaired well-being in children with CP as well as treatment the children have undergone. Associations between cold extremities and other symptoms borne by the children were analysed and discussed. From information in postal surveys received from parents of children with CP, 107 children (60 boys and 47 girls) aged 5-13 years, mean 11 years 8 months (SD 2 years 11 months), were described and analysed. Besides neurological impairments, many children had cold extremities and pain, sleeping disorders, constipation, and impaired well-being. Most children had had one or more of these symptoms for over 1 year but the symptoms were largely untreated. Non-walkers generally had more symptoms than walkers. Although pain, constipation, and sleeping disorders may have different underlying causes in children with CP, these symptoms might also be mediated or aggravated by dysfunction in the autonomic nervous system. To improve the child's well-being, early recognition and treatment of accompanying symptoms is important.
2008
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Child; Female; Humans; infant; Male; Survival Rate; Adult; Prognosis; Follow-Up Studies; Time Factors; adolescent; Preschool; infant; Q3 Literature Search; Newborn; Nervous System Diseases/etiology; Glutarates/urine; Glutaryl-CoA Dehydrogenase; Amino Acid Metabolism; Finland/epidemiology; Inborn Errors/complications/diagnosis/mortality; Oxidoreductases Acting on CH-CH Group Donors/deficiency; Scandinavia/epidemiology
Description
All 28 patients, 13 females and 15 males, with glutaric aciduria type 1 diagnosed between 1975 and 2001 in Denmark, Finland, Norway and Sweden were identified and studied retrospectively until 2001. Mass screening was not performed. Three were sibling cases. Prenatal enzymatic diagnosis performed in 11 pregnancies led to termination in one. The median follow-up time was 14 years. Six patients had died. At 10 years of age the cumulative survival rate was 89% and at 35 years 44%. The dominating neurological sign was dystonia in 20 and dyskinesia in 4. Three had only slight spastic signs and information was missing in one. The head circumference at birth was significantly larger than normal and increased significantly until 6 months of age. The onset was acute encephalopathic in 24 patients and insidious in 3. From the time of diagnosis, all patients but one were prescribed protein restriction and/or a diet low in lysine and tryptophan. Riboflavine and/or carnitine supplementation were given to 25. Neurological deficits did not improve on the offered treatment. Deterioration may have been averted by intense acute metabolic treatment in a few patients. Dystonia correlated significantly to absence of speech but not to cognitive function. Severe disability, including motor, cognitive and speech functions, correlated significantly with acute onset, dystonia and mortality, and weakly with a deteriorating course, but not with age at onset, diagnosis, or follow-up, nor to head size. Results from future population studies derived from mass screening will have to relate to clinical diagnostic series of the kind presented here.
2004
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Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
AIM: To identify the nature of services for children and young people with progressive neuromuscular disorders (NMD) provided by Children's Hospices in the UK. METHODS: A questionnaire requesting aggregate data on the number of patients with a neuromuscular condition was sent to all children's hospices in the UK, in addition, specific data was collected on services for young people with DMD presenting to a single local hospice. RESULTS: 87% of eligible hospices responded (27/31). 756 young people with an NM condition were being cared for by the hospices. These patients accounted for a mean of 17% of the total hospice population (range 5-35%). The age at which young people were required to leave the children's hospices varied from 18 up to 35 years. 73% of 'visits' were described as 'planned stays'. Although 'end of life care' is provided, few young people with NMD died in a hospice. CONCLUSIONS: Children and young people with NMD form a large proportion of the Children's Hospice's caseload. Many valued services provided by children's hospices are not available through NHS funding. The lack of similar adult based services is a concern as increasing numbers of young people are surviving into adulthood.
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Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Palliative care in children with spinal muscular atrophy type 1: How do they die? Results from a French multicentric study (National Hospital clinical Research Program)
Creator
Hully M; Barnerias C; Vanesse S; Viallard ML; Desguerre I
clinical research; palliative therapy; Werdnig Hoffmann disease; 50-48-6 (amitriptyline); 52-26-6 (morphine); 57-27-2 (morphine); 549-18-8 (amitriptyline); Amitriptyline; benzodiazepine derivative; Child; Clinical Article; clinical practice; Diagnosis; Drug Therapy; Female; follow up; Human; infant; Intensive care unit; Interview; Male; Morphine; multicenter study; nasogastric tube; Noninvasive Ventilation; psychologist; quantitative analysis; Resuscitation; time of death
Description
Objective: The national Hospital Clinical Research Program (PHRC) called Assessment of clinical practices of palliative care in children with Spinal Muscular Atrophy Type 1 (SMA 1) was conducted to depict palliative practices in that fatal disease, in which death up to now occurs few weeks or months after the diagnosis. We here report data about the conditions of death for the patients included. Methods: In this French multicentric study, patients were included from june 2012 to june 2016. Parents and physicians filled in a specific health book during the follow up, the physician in charge filled in a survey concerning the patient's management over the last 48 hours before death, then a semidirected interview of the parents was conducted by a trained psychologist 6 to 18 months after the child's death. We here report the quantitative analysis of data obtained from the survey about patient's management around death. Results: 38 patients were included in the study (17 centres), data were available for 36 dead patients. Median age at inclusion was 3 months (0,6-10,4), death occurred at a median 5,5 month of age (1,5-16,4), i.e a median follow-up of 2 months (0,2-12,8). 39% of patients died at home, 6% in an intensive care unit. At the time of death, patients received morphine (56%), benzodiazepines (39%), amitriptyline (39%). Treatments were given through a nasogastric tube (83%), and oxygenotherapy was delivered (76%). 6% patients received noninvasive ventilation at the time of death. No resuscitation recommendations had been prepared for most patients (97%), written in 85%, after a multidisciplinary meeting in most cases (79%). Conclusion: Our data confirm current knowledge about natural outcome in SMA 1, death occurring very soon after the diagnosis, claiming for an effective palliative management of the patients, including the involvement of parents in medical care at home.
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Duchenne muscular dystrophy (DMD) is a progressive, impairing, life-limiting disorder of childhood. Little is known about how siblings adapt to this. The aim of this study is to document psychosocial adjustment in siblings of patients with DMD. Healthy siblings (11-18 years old) of young people with DMD attending a specialist paediatric centre and their parent/main carer took part. Parents, siblings and teachers completed a battery of questionnaires: (i) to assess psychiatric risk the Strengths and Difficulties Questionnaire (SDQ), General Health Questionnaire (GHQ), Hospital Anxiety and Depression Scale (HADS); (ii) to measure general wellbeing: SF-36; (iii) to document DMD illness disability: Functional Disability Inventory (FDI); (iv) to assess family function and life stresses for the unaffected sibling: Family Assessment Device (FAD), Family Burden Interview Schedule and Life Events Checklist. Forty six/77 eligible siblings (24 females/22 males); (mean age 14 years (SD 2.3)) took part. Although their mean psychological functioning and wellbeing questionnaire scores were comparable to normative data, there was a trend for more siblings scoring at high-risk for psychological (mainly emotional) problems. Weak/moderate associations with psychological symptoms in siblings varied according to informant and included the following factors: closeness in age to the affected sibling; older sibling age; extent of wheelchair use, burden of illness on family interactions, and siblings reporting high impact of illness on their lives. Psychological symptoms were also associated with less sibling involvement in patient care, with broader psychosocial and family disadvantage and with life stresses. Siblings have an increased risk for emotional problems, which appears influenced by specific illness factors.
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Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).