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2.
Childs Nerv Syst ; 37(8): 2597-2604, 2021 08.
Artigo em Inglês | MEDLINE | ID: mdl-33834279

RESUMO

INTRODUCTION: Although intrathecal baclofen (ITB) therapy is an effective treatment for spasticity, it has several disadvantages and a risk of complications. METHODS: We present six pediatric patients who suffered from unusual mechanical failures of intrathecal baclofen pump systems. RESULTS: With these case-vignettes, we provide a systematic approach on how to interpret the symptoms of ITB complications and an advice which further diagnostic and therapeutic steps to follow. We underline the seriousness of baclofen overdose, underdosing or withdrawal.


Assuntos
Paralisia Cerebral , Relaxantes Musculares Centrais , Baclofeno/uso terapêutico , Paralisia Cerebral/tratamento farmacológico , Criança , Humanos , Bombas de Infusão Implantáveis , Injeções Espinhais , Relaxantes Musculares Centrais/uso terapêutico , Espasticidade Muscular/tratamento farmacológico
3.
Klin Padiatr ; 231(5): 262-268, 2019 Sep.
Artigo em Alemão | MEDLINE | ID: mdl-31505693

RESUMO

OBJECTIVE: The consumption of illegal substances during pregnancy is an increasing social and medical issue. Main substances of prenatal drug exposure are beside tehtrahydrocannabinol (THC), opioids and methamphetamine. The effect of these substances on the long-term development of children remains uncertain. METHODS: Since 2012 newborn infants born at the university hospital of children at Leipzig which were prenatal exposed to drugs were followed long-term at the out-patient clinic for child protection. For 42 children with prenatal opioid or methamphetamine exposure the developmentent was analysed using the Bayley Scales (BSID III) at the age of 2-3 years. The children were compared with 84 unexposed control children. One case matched to 2 controls, adapted by age, gender, gestational age and birth weight. RESULTS: Motoric development between prenatal methylamphetamine, opioid exposed children and the control group showed no significant difference. Methylamphetamine exposed children (n=23) At 2 exposure show significantly lower scores in cognition and language (79,1 compared 95,9 of the control group), opioid exposed children have a slight cognitive deficits with a medium score of 91,7 (n=19). 56% of the methamphetamine group were developmentally retarded at the measurement date. Additionally, children had significant lower Bayley Scores which had single parent and/ or low educational and professional qualifications of their caregiver. Both substances increased the risk of postnatal complications to 46-53% despite of similar gestational ages in all groups. CONCLUSION: Children with prenatal methamphetamine or opioid exposure seem to have cognition and language deficits at 2 and 3 years of age. Methamphetamine might have a higher negative effect than opioids. The psychosocial risk factors associated with parental drug abuse are important for achieving age-appropriate development.


Assuntos
Analgésicos Opioides/toxicidade , Desenvolvimento Infantil/efeitos dos fármacos , Cognição/efeitos dos fármacos , Metanfetamina/toxicidade , Atividade Motora/efeitos dos fármacos , Efeitos Tardios da Exposição Pré-Natal/induzido quimicamente , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Comportamento do Lactente/efeitos dos fármacos , Comportamento do Lactente/psicologia , Recém-Nascido , Idioma , Gravidez , Efeitos Tardios da Exposição Pré-Natal/fisiopatologia , Efeitos Tardios da Exposição Pré-Natal/psicologia
4.
Orphanet J Rare Dis ; 14(1): 96, 2019 05 03.
Artigo em Inglês | MEDLINE | ID: mdl-31053163

RESUMO

BACKGROUND: Tuberous sclerosis complex (TSC) is a multisystem disease with prominent neurologic manifestations such as epilepsy, cognitive impairment and autism spectrum disorder. mTOR inhibitors have successfully been used to treat TSC-related manifestations in older children and adults. However, data on their safety and efficacy in infants and young children are scarce. The objective of this study is to assess the utility and safety of mTOR inhibitor treatment in TSC patients under the age of 2 years. RESULTS: A total of 17 children (median age at study inclusion 2.4 years, range 0-6; 12 males, 5 females) with TSC who received early mTOR inhibitor therapy were studied. mTOR inhibitor treatment was started at a median age of 5 months (range 0-19 months). Reasons for initiation of treatment were cardiac rhabdomyomas (6 cases), subependymal giant cell astrocytomas (SEGA, 5 cases), combination of cardiac rhabdomyomas and SEGA (1 case), refractory epilepsy (4 cases) and disabling congenital focal lymphedema (1 case). In all cases everolimus was used. Everolimus therapy was overall well tolerated. Adverse events were classified according to the Common Terminology Criteria of Adverse Events (CTCAE, Version 5.0). Grade 1-2 adverse events occurred in 12 patients and included mild transient stomatitis (2 cases), worsening of infantile acne (1 case), increases of serum cholesterol and triglycerides (4 cases), changes in serum phosphate levels (2 cases), increase of cholinesterase (2 cases), transient neutropenia (2 cases), transient anemia (1 case), transient lymphopenia (1 case) and recurrent infections (7 cases). No grade 3-4 adverse events were reported. Treatment is currently continued in 13/17 patients. Benefits were reported in 14/17 patients and included decrease of cardiac rhabdomyoma size and improvement of arrhythmia, decrease of SEGA size, reduction of seizure frequency and regression of congenital focal lymphedema. Despite everolimus therapy, two patients treated for intractable epilepsy are still experiencing seizures and another one treated for SEGA showed no volume reduction. CONCLUSION: This retrospective multicenter study demonstrates that mTOR inhibitor treatment with everolimus is safe in TSC patients under the age of 2 years and shows beneficial effects on cardiac manifestations, SEGA size and early epilepsy.


Assuntos
Serina-Treonina Quinases TOR/antagonistas & inibidores , Esclerose Tuberosa/tratamento farmacológico , Transtorno do Espectro Autista/tratamento farmacológico , Criança , Pré-Escolar , Colesterol/sangue , Colinesterases/sangue , Epilepsia/tratamento farmacológico , Everolimo/uso terapêutico , Feminino , Humanos , Imunossupressores/uso terapêutico , Lactente , Recém-Nascido , Masculino , Estudos Multicêntricos como Assunto , Fosfatos/sangue , Estudos Retrospectivos , Triglicerídeos/sangue
5.
Epileptic Disord ; 21(2): 197-205, 2019 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-31010799

RESUMO

Epilepsy is a life-changing disease, and patients with epilepsy may face a number of issues. Paediatricians and general practitioners are often the first to be asked for advice. This cross-sectional study was performed to gain information on the knowledge and experiences of paediatricians and general practitioners on epilepsy. From September 2015 to July 2017, paediatricians and general practitioners in Leipzig, Germany, were asked to take part in a face-to-face interview. Overall, 40 paediatricians and 60 general practitioners participated in the study. A total of 99/100 (99%) kept emergency medication available and 96/100 (96%) would administer it during a seizure. Also, 40/40 (100%) of the paediatricians and 34/60 (57%) of the general practitioners recommended that non-professionals should administer emergency medication, and 18/40 (45%) of the paediatricians and 35/60 (58%) of the general practitioners would put an object in the patient's mouth during a seizure. With regards to safety precautions, paediatricians mentioned the risks associated with swimming (30/40; 75%) and the potential of falling from a height (23/40; 58%), whereas general practitioners focused on being around vehicles including driving regulations (43/60; 72%). Only 5/60 (8%) of the general practitioners advised that precautions should be taken during swimming. Fatigue/exhaustion was the most common adverse drug event associated with long-term anticonvulsive therapy mentioned by paediatricians (13/40; 33%) and general practitioners (27/60; 45%). Of all the participants, 23/100 (23%) recommended epilepsy training programmes for patients and families, however, none were able to name a specific programme. Nearly half of the general practitioners did not recommend the use of rescue medication by non-professionals. This measure, however, can prevent the occurrence of prolonged non-treatable seizures. Both paediatricians and general practitioners should bear in mind that placing an object in the mouth during a seizure should be avoided due to the risk of additional injury. To reduce the risk of drowning, physicians should recommend safety precautions during swimming. Information on epilepsy training programmes for patients and families should be diffused to all physicians taking care of patients with epilepsy.


Assuntos
Anticonvulsivantes/administração & dosagem , Epilepsia/terapia , Clínicos Gerais , Conhecimentos, Atitudes e Prática em Saúde , Pediatras , Adulto , Estudos Transversais , Epilepsia/tratamento farmacológico , Feminino , Clínicos Gerais/estatística & dados numéricos , Alemanha , Humanos , Masculino , Pessoa de Meia-Idade , Pediatras/estatística & dados numéricos
6.
Pediatr Dermatol ; 35(6): 784-786, 2018 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-30178509

RESUMO

BACKGROUND/OBJECTIVES: Plantar hyperhidrosis can have severe social effects on children and adolescents. Therapeutic options include antiperspirants and surgical interventions (eg, sympathectomy). Botulinum type A toxin is approved for axillary hyperhidrosis in adults only. The aim of the study was the determination of effect and safety of botulinum type A toxin in plantar hyperhidrosis in juvenile patients. METHODS: Children and adolescents with idiopathic focal plantar hyperhidrosis were treated with 50-100 U of botulinum type A toxin per sole. Local anesthesia was provided using topical eutectic mixture of local anesthetics cream and ice, in combination with midazolam as an anxiolytic. RESULTS: Fifteen patients (aged 12-17) were included in the study. Best results were achieved with a dose of 75-100 U of botulinum type A toxin per sole. Two patients did not benefit from the therapy, and 11 (73%) were satisfied with the results. Nine patients (60%) experienced pain at the injection site for a maximum duration of 3 days. One patient reported transient focal weakness for 4 weeks. CONCLUSION: Botulinum type A toxin seems to be a safe secondary treatment option for plantar hyperhidrosis in adolescents aged 12 and older. A dose of 75-100 U per sole resulted in a good therapeutic effect of variable duration in most patients. There were no severe side effects.


Assuntos
Toxinas Botulínicas Tipo A/administração & dosagem , Hiperidrose/tratamento farmacológico , Adolescente , Anestésicos Locais , Toxinas Botulínicas Tipo A/efeitos adversos , Criança , Feminino , Pé/fisiopatologia , Humanos , Injeções Intradérmicas , Masculino , Suor/efeitos dos fármacos , Resultado do Tratamento
7.
Eur J Pediatr ; 177(10): 1451-1457, 2018 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-29967923

RESUMO

Epilepsy and bronchial asthma are frequent in adolescents. Data on adolescents' experiences with their disease and on their expectations for the future, however, is scarce. Patients of a university hospital aged 12 to 17 with epilepsy or bronchial asthma were interviewed based on a questionnaire. Forty-five patients with epilepsy and 47 with bronchial asthma were interviewed. Adolescents with epilepsy felt more impaired by their disease (median 2.5; Q25/Q75 0.75/3.0; 6-level Likert scales: 0 = not at all, 5 = very strong) than those with asthma (1.0; 0/3.0; p = 0.017). Seventy-nine patients (85.9%) had never used the Internet to gain information about their disease. Adolescents with epilepsy felt more limited in their career possibilities by their disease (2.0; 0/4.0) than those with asthma (0; 0/2.0; p = 0.001) and had a higher level of concern about passing their disease on to their children (3.0; 0/4.0) than their peers with asthma (1.5; 1.5/3.0; p = 0.016). Girls with epilepsy were more anxious (4.0; 0.5/5.0) than girls with asthma (0; 0/4.0) about complications of the disease regarding pregnancy (p = 0.019). CONCLUSION: As well adolescents with epilepsy as with asthma described limitations of their daily life and concerns about the future. What is Known: • Epilepsy and bronchial asthma are frequent chronic diseases in adolescents. • Those diseases can affect psychosocial development. What is New: • Adolescents with epilepsy and bronchial asthma described a high burden of their disease, and most adolescents had not used the Internet to inform themselves on their disease. • Especially adolescents with epilepsy fear limitations in their job possibilities, inheritance of their disease and complications in their prospective pregnancy.


Assuntos
Asma/psicologia , Atitude Frente a Saúde , Epilepsia/psicologia , Conhecimentos, Atitudes e Prática em Saúde , Qualidade de Vida/psicologia , Adolescente , Criança , Medo , Feminino , Humanos , Masculino , Inquéritos e Questionários
8.
Epilepsy Behav ; 84: 37-43, 2018 07.
Artigo em Inglês | MEDLINE | ID: mdl-29747033

RESUMO

OBJECTIVE: Parents of children with epilepsy are at risk of committing high-risk handling errors with a high potential to harm the patient when administering anticonvulsant rescue medication. We developed a training concept addressing identified high-risk handling errors and investigated its effects on parents' skills. STUDY DESIGN: In a controlled prospective intervention study, parents of children with epilepsy were asked to demonstrate their administration of rescue medication by using dummy dolls. A clinical pharmacist monitored rectal or buccal administration and addressed errors in the intervention group with training and information sheets. Three to 6weeks later, intervention's sustainability was assessed at a home visit. RESULTS: One hundred sixty-one parents completed full study assessment: 92 in the intervention group and 69 in the control group. The number of processes with at least one handling error was reduced from 96.4% to 56.7% in rectal tube administration and from 66.7% to 13.5% in buccal administration (both p<0.001). CONCLUSION: A one-time intervention for parents significantly and sustainably reduced high-risk handling errors. Dummy dolls and information sheet were adequate for an effective and feasible training to support the correct administration of anticonvulsant rescue medication.


Assuntos
Anticonvulsivantes/administração & dosagem , Anticonvulsivantes/uso terapêutico , Serviços Médicos de Emergência , Epilepsia/tratamento farmacológico , Pais , Administração Bucal , Administração Retal , Adulto , Criança , Pré-Escolar , Competência Clínica , Feminino , Humanos , Masculino , Erros de Medicação , Educação de Pacientes como Assunto , Farmacêuticos , Estudos Prospectivos
9.
Klin Padiatr ; 230(1): 44-49, 2018 01.
Artigo em Inglês | MEDLINE | ID: mdl-29258157

RESUMO

BACKGROUND: A developmental disorder of a child has a major impact on the affected families' lives. However, data about the parents' perception of the revealing of the diagnosis is scarce. PATIENTS AND METHODS: Parents of children with developmental disorder treated as outpatients in a university hospital were interviewed about the initial medical consultation concerning the diagnosis of their child. RESULTS: Parents of 210 children agreed to take part in the study. 35/210 (17%) had to be excluded from the study as they were not able to remember the initial medical consultation, or claimed there was either no initial medical consultation or they did not attend it. The diagnosis of developmental disorder was made in median 4 months (Q25/Q75: 0/12; min/max: 0/63) after the parents had noticed the first symptoms. According to the parents, options to support the development of the child were the most frequently addressed topic in the initial medical consultation (119/175, 68%). Some parents wished more empathy (19/175, 11%), and less medical terminology (12/175, 7%). 114/175 (65%) of parents rated the initial medical consultation as "very good" or "good". After their initial medical consultation, 66/175 (38%) of the parents had open questions mainly concerning the prognosis of the disease. Sources of information that were used after the consultation were most often the treating physician (150/175, 86%) and the internet (133/175, 76%). CONCLUSION: Generally, parents perceive the initial medical consultation on the developmental disorder of their child well. Nevertheless, many parents state that they had unanswered questions after the consultation. The internet is one of the main sources parents use to answer those questions.


Assuntos
Conhecimentos, Atitudes e Prática em Saúde , Deficiência Intelectual/diagnóstico , Internet , Deficiências da Aprendizagem/diagnóstico , Pais/psicologia , Encaminhamento e Consulta , Adolescente , Adulto , Criança , Humanos , Pessoa de Meia-Idade , Prognóstico , Adulto Jovem
10.
Klin Padiatr ; 230(1): 5-12, 2018 01.
Artigo em Alemão | MEDLINE | ID: mdl-29258161

RESUMO

Expertise in a variety of fields is required for the diagnostic process of epilepsies in children and adolescents as well as for their treatment with anticonvulsants. Patients benefit in the process from the cooperation of different health care professionals. It is of critical importance for risks to be minimised and for the efficacy shown in controlled clinical trials to be maintained in routine conditions. In the first instance, drug prescription procedures, including the choice of anticonvulsants and combinations of drugs and dosing, have to be considered. The administration of drugs has, of course, also to be taken into account. Only if patients are given their anticonvulsants appropriately, the intended success of the therapy can be accomplished. Strategies aimed at improving drug administration have to be directed not only at nurses but also at parents, children and adolescents themselves, as well as caregivers in schools and children's day-care facilities. By providing theoretical teaching, practical training, and routinely including pharmacists in the therapeutic team, drug-related problems that may result in limited effectiveness and increased risks are prevented. As a result, drug (therapy) safety is not only qualitatively improved, but the degree of participation and quality of life of patients and families is improved as well.


Assuntos
Anticonvulsivantes/uso terapêutico , Comunicação Interdisciplinar , Hanseníase/tratamento farmacológico , Pediatria , Farmacêuticos , Adolescente , Criança , Humanos , Hanseníase/psicologia , Pais , Qualidade de Vida
11.
Klin Padiatr ; 230(1): 31-38, 2018 01.
Artigo em Alemão | MEDLINE | ID: mdl-29183092

RESUMO

OBJECTIVE: Methamphetamine (MA) has become one of the most commonly used illegal drugs during pregnancy. We sought to determine how MA abuse modifies pregnancy outcomes and the health of the newborn infants. Patients 102 newborns from mothers with antenatal MA consumption were admitted to the University Hospital Leipzig from 2004-2015. METHODS: The effects of MA abuse on pregnancy outcomes and neonates were researched in a retrospective controlled study. We analysed the date of pregnancy detection, number of antenatal preventive examinations, body measurements of the neonates, duration of hospitalization, rate of preterm infants, congenital malformations and symptoms of neonatal abstinence syndrome. RESULTS: The majority of pregnancies of MA abusing women were diagnosed during the 2. trimester and they had a median of 4 prenatal care visits. The group of MA exposed neonates includes twice as many preterm neonates as the control group (MA:20,6%; CG:10,7%). The consumption was associated with intrauterine growth restriction, an increased incidence of poor cardio respiratory adaptation, cardiac defects and a floppy muscle tone. The median time of hospitalization was 10d as compared to a control group (CG:5d). Special care was needed in 44% of the neonates (CG:0,98%). The median age of primiparous women was 22.5 yr (CG:30 yr), 4.9% were married (CG:38%). 57 of 102 women were unemployed. CONCLUSION: Because of the adverse effects of perinatal MA abuse a multidisciplinary team is necessary to detect the consumption, to alleviate side effects and to provide efficient medical care for the newborns. Psychological and social support for the families are also important.


Assuntos
Transtornos Relacionados ao Uso de Anfetaminas/epidemiologia , Metanfetamina/efeitos adversos , Síndrome de Abstinência Neonatal/epidemiologia , Complicações na Gravidez/epidemiologia , Resultado da Gravidez/epidemiologia , Efeitos Tardios da Exposição Pré-Natal , Transtornos Relacionados ao Uso de Anfetaminas/diagnóstico , Feminino , Retardo do Crescimento Fetal/epidemiologia , Alemanha/epidemiologia , Humanos , Lactente , Recém-Nascido , Metanfetamina/administração & dosagem , Síndrome de Abstinência Neonatal/diagnóstico , Gravidez , Complicações na Gravidez/diagnóstico , Estudos Retrospectivos
13.
Seizure ; 51: 139-144, 2017 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-28858641

RESUMO

PURPOSE: Attitudes concerning epilepsy improved over the last few decades, but children with epilepsy still suffer from stigmatisation. Data about unaffected children's knowledge of and attitudes about epilepsy is scarce. METHODS: We developed a questionnaire regarding epilepsy for high school students attending 8th-10th grade. The survey was performed from October 2015 to March 2016 in 5 different federal states of Germany. RESULTS: 1092 students [mean age (Q25/75): 14.5 (14/15) years] participated. 542/1092 (50%) of the respondents knew that people could die from a seizure. 216/1092 (20%) thought emotional strain could cause epilepsy. Asked for measures they would perform in case of a seizure, 235/1092 (24%) participants would hold the person to the ground, and 182/1092 (19%) would put a solid object into the person's mouth. 28/1092 (3%) would not like to be friends with a person with epilepsy, and 237/1092 (22%) would not like to go on a date with a person with epilepsy. Answers of 342/1092 (31%) students of a school located nearby a specialised epilepsy centre differed in some questions. The latter students were more familiar with epilepsy and showed better knowledge concerning causes, symptoms and treatment of epilepsy. In a question about special characteristics of people with epilepsy, 63/342 (18%) [other schools: 52/750 (11%)] answered people with epilepsy were friendlier and 76/342 (22%) [other schools: 49/750 (11%)] answered they were more sociable compared to people without epilepsy. CONCLUSION: To improve knowledge and attitudes and reduce misconceptions further education seems necessary.


Assuntos
Epilepsia , Conhecimentos, Atitudes e Prática em Saúde , Estudantes , Adolescente , Feminino , Alemanha , Humanos , Masculino , Inquéritos e Questionários
14.
Eur J Pediatr ; 176(8): 1121-1129, 2017 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-28691134

RESUMO

Seizure disorder and developmental disorder are two of the most common chronic disorders in childhood. Data on perceived parental burden and specific effects on daily life is scarce. We performed a structured interview, consecutively talking to all parents of pediatric outpatients of our university hospital diagnosed with seizure or developmental disorder. Three hundred seven parents (of 317 affected children: 53 with seizure disorder, 44 with specific developmental disorder, 35 with learning disorder, 71 with intellectual disability, 15 with seizure + specific developmental disorder, 23 with seizure + learning disorder, 76 with seizure disorder + intellectual disability) were interviewed. Parents of children with both seizure disorder and intellectual disability stated the highest constraints in daily life, regarding friends, hobbies, emotional pressure, occupation, partnership, habitation, and financial burden. Due to diagnosis of seizure or developmental disorder, 155/307 (51%) parents reduced their working hours/stopped working, 62/307 (20%) changed their habitation, and 46/307 (15%) broke up. As judged by parents, 148/317 (47%) children are being discriminated against, even own family/friends and educators are held responsible. CONCLUSION: Parents perceive changes in their daily life and discrimination of their children due to their children's seizure and developmental disorders. An intellectual disability combined with seizure disorder caused the highest constraint. What is Known: • Seizure and/or developmental disorders of children may adversely influence quality of life for affected parents. • Caring for a child with special health care needs can take complete attention and own parental needs may therefore be difficult to meet. What is New: • Two out of three parents stated changes of their daily life such as quitting work, change of habitation, or breakup of partnership due to their child's diagnosis. • As judged by the parents, one in two children with developmental disorder of any kind is being discriminated against, even teachers and own family are held responsible.


Assuntos
Efeitos Psicossociais da Doença , Deficiências do Desenvolvimento/psicologia , Epilepsia/psicologia , Pais/psicologia , Qualidade de Vida/psicologia , Adolescente , Adulto , Criança , Pré-Escolar , Deficiências do Desenvolvimento/complicações , Epilepsia/complicações , Feminino , Humanos , Lactente , Entrevistas como Assunto , Masculino , Pessoa de Meia-Idade , Discriminação Social/psicologia , Adulto Jovem
15.
Acta Paediatr ; 106(11): 1811-1816, 2017 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-28561263

RESUMO

AIM: In Germany, preschool teachers supervise children up to six years of age and are also responsible for supervising older pupils after school. This study explored the impact of a teaching session on epilepsy for teachers in charge of children from 1 to 10 years of age. METHODS: We evaluated the benefit of a teaching session offered to all preschool teachers in Leipzig, Germany, in 2014-2015, by asking them to complete the same questionnaire 12-24 months pre-intervention, and 12 months postintervention. RESULTS: Both questionnaires were completed by 123 teachers. The number of teachers who felt they were prepared to handle an acute seizure rose from 36 (29%) pre-intervention to 65 (53%) post-intervention (p < 0.001) and their willingness to administer a prescribed rescue medication rose from 66 (54%) to 93 (76%, p < 0.001). The session also increased the number of teachers who were prepared to take children with epilepsy on excursions under any circumstance from 38 (31%) to 52 (42%, p < 0.05). In addition, the number of teachers who would place a solid object in the child's mouth during an attack fell from 16 (13%) to seven (6%) (p < 0.05). CONCLUSION: Providing a teaching session on epilepsy increased the teachers' knowledge and willingness to act and reduced obsolete, counterproductive measures.


Assuntos
Epilepsia , Conhecimentos, Atitudes e Prática em Saúde , Professores Escolares/estatística & dados numéricos , Capacitação de Professores , Adulto , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Pessoa de Meia-Idade
16.
Seizure ; 50: 38-42, 2017 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-28605661

RESUMO

PURPOSE: Prolonged seizures can cause severe harm and even death. For seizures lasting longer than 5min, an administration of rescue medication is therefore recommended. Caregivers such as preschool teachers should be able to administer correctly anticonvulsive rescue medication to children. METHODS: A training concept for preschool teachers on seizure management focussing on practical skills was developed. To assess the success of the training, a structured interview on attitudes relating to rescue medication administration was conducted. The number of committed errors during administration of a rectal/buccal rescue medication to dummy dolls was compared before and after training. RESULTS: 210 teachers from 115 preschools participated while all teachers from 303 preschools had been invited. The self-reported level of confidence in their own skills to administer anticonvulsive rescue medication increased from 5 to 8 on a scale from 1 to 10 (p<0.001). The number of participants who agreed to administer rescue medication rose from 195/210 (92.8%) before training to 209/210 (99.5%, p<0.001) after training for the rectal route, and from 173/210 (82.4%) to 209/210 (99.5%, p<0.001) for the buccal route. For teachers who administered rescue medication before and after training, the number of administrations without any administration errors rose from 1/195 (0.5%) to 117/195 (60.0%, p<0.001) for the rectal route, and from 13/173 (7.5%) to 95/173 (54.9%, p<0.001) for the buccal route. CONCLUSION: A training for preschool teachers boosted the level of self-confidence relating to administration of anticonvulsive rescue medication. Teachers also committed fewer errors when administering rescue medication to dummy dolls.


Assuntos
Professores Escolares , Convulsões/terapia , Capacitação de Professores , Anticonvulsivantes/administração & dosagem , Anticonvulsivantes/uso terapêutico , Atitude Frente a Saúde , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Professores Escolares/estatística & dados numéricos , Convulsões/tratamento farmacológico , Capacitação de Professores/métodos
17.
Mol Syndromol ; 7(4): 182-188, 2016 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-27781028

RESUMO

Mutations in SCN2A have been associated with benign familial neonatal-infantile seizures (BFNIS) as well as infantile-onset epileptic encephalopathy, such as Ohtahara syndrome (OS). We describe a family with 3 affected individuals carrying the novel SCN2A missense variant c.1147C>G, p.Q383E affecting a residue proximal to the highly conserved selectivity filter in the P-loop of the voltage-gated sodium channel (Nav1.2). All 3 individuals presented with seizures in early infancy. However, there were striking differences in the spectrum of clinical presentations, ranging from BFNIS to OS. A change of ion selectivity of Nav1.2 is considered to be the potential pathomechanism underlying this Nav1.2 channel dysfunction. The observation of benign and severe phenotypes due to an identical mutation within one family contradicts the hypothesis of different modes of inheritance as a mandatory feature discriminating BFNIS from SCN2A encephalopathy.

18.
Mol Syndromol ; 7(4): 189-196, 2016 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-27781029

RESUMO

Benign familial neonatal seizures (BFNS) present a rare familial epilepsy syndrome caused by genetic alterations in the voltage-gated potassium channels Kv7.2 and Kv7.3, encoded by KCNQ2 and KCNQ3. While most BFNS families carry alterations in KCNQ2, mutations in KCNQ3 appear to be less common. Here, we describe a family with 6 individuals presenting with neonatal focal and generalized seizures. Genetic testing revealed a novel KCNQ3 variant, c.835G>T, cosegregating with seizures in 4 tested individuals. This variant results in a substitution of the highly conserved amino acid valine localized within the pore-forming transmembrane segment S5 (p.V279F). Functional investigations in Xenopus laevis oocytes revealed a loss of function, which supports p.V279F as a pathogenic mutation. When p.V279F was coexpressed with the wild-type (WT) Kv7.2 subunits, the resulting potassium currents were about 10-fold reduced compared to the WT Kv7.3 and Kv7.2 coexpression. Genotype-phenotype correlation shows an incomplete penetrance of p.V279F. Response to antiepileptic treatment was variable, but evaluation of treatment response remained challenging due to the self-limiting character of the disease. The identification of the pathogenic variant helped to avoid unnecessary investigations in affected family members and allowed guided therapy.

19.
PLoS One ; 11(9): e0160680, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27656877

RESUMO

INTRODUCTION: Pulmonary Surfactant reduces surface tension in the terminal airways thus facilitating breathing and contributes to host's innate immunity. Surfactant Proteins (SP) A, B, C and D were recently identified as inherent proteins of the CNS. Aim of the study was to investigate cerebrospinal fluid (CSF) SP levels in hydrocephalus patients compared to normal subjects. PATIENTS AND METHODS: CSF SP A-D levels were quantified using commercially available ELISA kits in 126 patients (0-84 years, mean 39 years). 60 patients without CNS pathologies served as a control group. Hydrocephalus patients were separated in aqueductal stenosis (AQS, n = 24), acute hydrocephalus without aqueductal stenosis (acute HC w/o AQS, n = 16) and idiopathic normal pressure hydrocephalus (NPH, n = 20). Furthermore, six patients with pseudotumor cerebri were investigated. RESULTS: SP A-D are present under physiological conditions in human CSF. SP-A is elevated in diseases accompanied by ventricular enlargement (AQS, acute HC w/o AQS) in a significant manner (0.67, 1.21 vs 0.38 ng/ml in control, p<0.001). SP-C is also elevated in hydrocephalic conditions (AQS, acute HC w/o AQS; 0.87, 1.71 vs. 0.48 ng/ml in controls, p<0.001) and in Pseudotumor cerebri (1.26 vs. 0.48 ng/ml in controls, p<0.01). SP-B and SP-D did not show significant alterations. CONCLUSION: The present study confirms the presence of SPs in human CSF. There are significant changes of SP-A and SP-C levels in diseases affecting brain water circulation and elevation of intracranial pressure. Cause of the alterations, underlying regulatory mechanisms, as well as diagnostic and therapeutic consequences of cerebral SP's requires further thorough investigations.

20.
Eur J Pediatr ; 175(9): 1139-1146, 2016 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-27370405

RESUMO

UNLABELLED: Quality of parents' performance in administering anticonvulsive rescue medication to their children suffering from seizures is unknown. After obtaining ethical approval, we used a questionnaire to ask parents of children with seizures, who had been prescribed rescue medications, about their experience in administering those. To assess the frequency of actually committed drug-handling errors, we let them administer rescue medications to dummy dolls. An expert panel rated the clinical risk of handling errors from "1" (lowest) to "6" (highest). Eighty-one parents completed the study. In the questionnaire, 85 % (100 %) of parents that already conducted rectal (buccal) administration reported that they had never experienced problems. The number of rectal administrations with at least one handling error (97 %, 58/60) was higher than in buccal administration (58 %; 14/24; p < 0.001). According to logistic regressions, previous use of rescue medication was not a predictor of the number of committed errors per process (n. s.). All errors were rated with a high clinical risk (class 4-6). CONCLUSION: By observing parents' administration of rescue medication to dummy dolls, we found a high frequency of clinically relevant drug-handling errors. Most parents, however, self-reported to have never experienced problems while administering rescue medications to their children. WHAT IS KNOWN: • For seizures with duration of more than 5 min, the administration of anticonvulsive rescue medication is recommended. • Outside the hospital, the administration of rescue medication to children is performed most frequently by their parents. What is New: • Most of the parents reported that they had never experienced problems in handling anticonvulsive rescue medication. • But in the observed drug-handling performances, identified errors committed by parents were alarmingly frequent and pose a high clinical risk according to an expert panel.


Assuntos
Anticonvulsivantes/administração & dosagem , Erros de Medicação/estatística & dados numéricos , Pais , Convulsões/tratamento farmacológico , Administração Bucal , Administração Retal , Adolescente , Adulto , Criança , Diazepam/administração & dosagem , Tratamento de Emergência , Feminino , Humanos , Modelos Logísticos , Masculino , Midazolam/administração & dosagem , Pessoa de Meia-Idade , Risco , Terapia de Salvação/estatística & dados numéricos , Autorrelato , Inquéritos e Questionários , Adulto Jovem
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