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1.
Elin Hjorth Ulrika Kreicbergs Thomas Sejersen Malin Lövgren 《European journal of paediatric neurology》2018,22(1):128-134
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. 相似文献2.
V.A. Bach M.P. Neininger U.P. Spindler L.C. Hotopp F. Hornemann S. Syrbe A. Merkenschlager W. Kiess M.K. Bernhard T. Bertsche A. Bertsche 《European journal of paediatric neurology》2018,22(3):427-433
Background
The main source of knowledge on adverse drug events (ADE) are physicians' reports in controlled clinical trials. In contrast, little is known about the parents' perception of ADE of anticonvulsants their children receive.Methods
After approval by the local ethics committee, we performed a survey in a neuropediatric outpatient clinic of a university hospital. Based on a structured questionnaire, we interviewed parents of children with current anticonvulsant treatment regarding (i) their fears about potential ADE, (ii) experienced ADE according to parents, and (iii) implications of ADE on the child's life.Results
Parents of 150 patients took part in the interview. (i) 95 (63.3%) parents expressed fears concerning ADE, mostly liver injury/liver failure (33 [22%]). (ii) 129 (86%) parents reported experienced ADE, mostly sedation (65 [43.3%]) and abnormal behavior (54 [36%]). (iii) Parents reported substantial implications of ADE on the child's daily life for 84 (56%) children, and 63 (42%) parents expressed a negative impact on the child's development.Conclusion
We recognized a great discrepancy between those ADE that were feared and those that were experienced. Parents feared life-threatening ADE and experienced less severe ADE that nevertheless have a negative impact on the child's daily life. 相似文献3.
Barbara K. Giambra Stephen M. Haas Maria T. Britto Ellen A. Lipstein 《Journal of pediatric health care》2018,32(1):21-28
Introduction
The purpose of this study was to explore the communication behaviors demonstrated by parents of children with chronic conditions and provider team members when communicating about the child's care in outpatient clinics using concepts from the Theory of Shared Communication (TSC).Methods
This was a secondary data analysis of 30 previously recorded pediatric clinic visits. Communication among parents and provider team members was analyzed using a researcher-developed coding scheme based on the TSC.Results
Provider team members dominated communication during clinic visits, showing more frequent use of asking, explaining, advocating, and negotiating behaviors than parents. Parents were engaged in communication with frequent asking, explaining, and advocating behaviors.Discussion
Parents of children with chronic conditions and multidisciplinary providers demonstrated the communication behaviors of the TSC in an outpatient clinic setting. Provider dominance of communication in the clinic setting may disempower parents and impair relationships. 相似文献4.
Shanna Doucette Knierim Sophia Newcomer Alyssa Castillo Alanna Kulchak Rahm Silvia Raghunath Christina Clarke Leslie Wright Matthew Haemer Simon J. Hambidge 《Academic pediatrics》2018,18(3):342-353
Objective
Little is known about Latino parents' perceptions of weight-related language in English or Spanish, particularly for counseling obese youth. We sought to identify English and Spanish weight counseling terms perceived by Latino parents across demographic groups as desirable for providers to use, motivating, and inoffensive.Methods
Latino parents of children treated at urban safety-net clinics completed surveys in English or Spanish. Parents rated the desirable, motivating, or offensive properties of terms for excess weight using a 5-point scale. We compared parental ratings of terms and investigated the association of parent and child characteristics with parent perceptions of terms.Results
A total of 525 surveys met inclusion criteria (255 English, 270 Spanish). English survey respondents rated “unhealthy weight” and “too much weight for his/her health” the most motivating and among the most desirable and least offensive terms. Spanish survey respondents found “demasiado peso para su salud” highly desirable, highly motivating, and inoffensive, and respondents valued its connection to the child's health. Commonly used clinical terms “overweight”/“sobrepeso” and “high BMI [body mass index]”/“índice de masa corporal alta” were not as desirable or as motivating. “Chubby,” “fat,” “gordo,” and “muy gordo” were the least motivating and most offensive terms. Parents' ratings of commonly used clinical terms varied widely across demographic groups, but more desirable terms had less variability.Conclusions
“Unhealthy weight,” “too much weight for his/her health,” and its Spanish equivalent, “demasiado peso para su salud,” were the most desirable and motivating, and the least offensive terms. Latino parents' positive perceptions of these terms occurred across parent and child characteristics, supporting their use in weight counseling. 相似文献5.
Jacob Brodsky Karampreet Kaur Talia Shoshany Sophie Lipson Guangwei Zhou 《European journal of paediatric neurology》2018,22(4):667-673
Introduction
Migraine variant disorders of childhood include benign paroxysmal torticollis of infancy (BPTI) and benign paroxysmal vertigo of childhood (BPVC). This study aimed to review our experience with BPTI and BPVC and determine the incidence of children transitioning between each of these disorders and to vestibular migraine (VM).Methods
We retrospectively reviewed the medical records of patients seen at the Balance and Vestibular Program at Boston Children's Hospital between January 2012 and December 2016 who were diagnosed with BPTI, BPVC, and/or VM.Results
Fourteen patients were diagnosed with BPTI, 39 with BPVC, and 100 with VM. Abnormal rotary chair testing was associated with progression from BPTI to BPVC (n = 8, p = 0.045). Eight (57.1%) patients with BPTI and 11 (28.2%) with BPVC had motor delay. Eleven (78.6%) patients with BPTI and 21 (53.8%) with BPVC had balance impairment. Six BPTI patients developed BPVC (42.9%), six BPVC patients developed VM (15.4%), and two patients progressed through all three disorders (2%). One BPTI patient progressed directly to VM.Discussion
Most patients with BPTI will experience complete resolution in early childhood, but some will progress to BPVC, and similarly many patients with BPVC will progress to VM. Parents of children with these disorders should be made aware of this phenomenon, which we refer to as “the vestibular march.” Children with BPTI and BPVC should also be screened for hearing loss, otitis media, and motor delay. 相似文献6.
Alexander N. Ortega Ryan M. McKenna Brent A. Langellier Héctor E. Alcalá Dylan H. Roby 《Academic pediatrics》2018,18(1):20-25
Objective
To assess differences in health care access, utilization, and experiences among Latino children in California according to parental citizenship status and language use.Methods
Data are from the 2011 and 2012 California Health Interview Survey public use child files. A total of 2841 interviews of parents of Latino children younger than the age of 12 years were conducted. Analyses were conducted to determine the associations between access (usual of source of care, delay in receiving needed care, health insurance), utilization (physician visits in past year, emergency department visits), and experiences (doctor listens, doctor explains instructions clearly, communication via telephone or e-mail) according to parental citizenship status and household language use after adjusting for confounders.Results
In multivariate analyses, there were no significant differences in access to care according to parental citizenship status. Children with 2 noncitizen parents had fewer doctor visits and were less likely to go to the emergency department in the past year than those with 2 citizen parents. Among children with 1 or 2 noncitizen parents, their parents reported worse experiences in care than those with 2 citizen parents. Similar results were observed for language use. Parents of children in bilingual and Spanish-only households were less likely to report that their children's doctors explained things clearly, and parents in Spanish-only households were less likely to communicate via telephone or e-mail than those in English-only households.Conclusions
Health policy should focus on provider-parent communication to ensure health care equity for Latino children whose parents are not citizens or do not speak English. 相似文献7.
Maya I. Ragavan Wendy Li A. Rani Elwy John D. Cowden Megan Bair-Merritt 《Academic pediatrics》2018,18(6):628-635
Objectives
Well-child visits are a critical component of pediatric health care; however, disparities in attendance and quality of care exist for Asian children. Limited research has explored Asian immigrant parents' perspectives about their well-child visit experience.Methods
Qualitative interviews were conducted with Chinese, Vietnamese, and Asian Indian immigrant parents. Participants were recruited from community-based organizations in the Boston area. Interviews focused on parents' perceptions about well-child visits, including individual attitudes, social and cultural factors affecting their opinions, perceived behavioral control, and improving visits for Asian immigrant families. Data were coded and analyzed using thematic analysis.Results
Fifty-one parents participated. Although participants reported attending well-child visits, they thought language barriers and unfamiliarity with US preventive health care may limit attendance for other Asian immigrant families. Some reported high-quality visits, while others described them as “too simple,” recollecting health care experiences from their countries of origin where more tests were completed. Participants described seeking advice about their children's preventive care from elder family members. Many expressed the importance of culturally concordant health care providers and culturally sensitive care, while others thought that culture was less relevant. Differences emerged among the 3 subgroups around culturally concordant care and traditional medicine.Conclusions
Querying parents about their past health care experiences and providing information about well-child visits may be useful when caring for immigrant families. Social influences on children's health outside of the parent–provider–child triad may also be important. Further work should explore how to deliver culturally sensitive care that considers not only a family's language preferences but also their unique cultural identity. 相似文献8.
9.
Hirokazu Oguni Yasushi Ito Yui Otani Satoru Nagata 《European journal of paediatric neurology》2018,22(3):482-487
Objectives
We conducted a questionnaire survey on the efficacy and side effects of ketogenic diet (KD) therapy in patients with glucose transporter 1 deficiency syndrome (GLUT1DS) as well as issues associated with long-term KD therapy from the viewpoint of patients' families.Subjects and methods
The subjects were 34 patients whose ages at the time of the survey ranged between 2 and 50 years (median, 11 years). The ages at the diagnosis ranged between 3 months and 48 years and 5 months (median, 4 years and 10 months), and KD therapy was started within 5 months in all patients.Results
The types of KD therapies used were modified Atkins diet (MAD) in 18 patients (53%), MCT (medium chain triglyceride)-KD in 9 (26%), classic KD in 5 (15%), LGIT (low-glycemic index treatment) in 1 (3%), and unspecified diet in 1 (3%). Epileptic seizures improved by more than 90% in 17 patients, by 50–89% in 9, by less than 50% in 3, and an unknown percentage in 5. Neurological symptoms other than the epileptic seizures improved markedly, moderately, and mildly in 14, 5, and 7 patients, respectively, and did not improve in 2. The side effects of KD therapy were seen in 9 patients and it was subsequently discontinued in one.Conclusions
The families of patients showed a high level of satisfaction with the efficacy of KD therapy for the neurological symptoms. However, in order to continue KD therapy for a long period of time, its tolerability needs to be improved. 相似文献10.
Rachel M. Cunningham Charles G. Minard Danielle Guffey Laurie S. Swaim Douglas J. Opel Julie A. Boom 《Academic pediatrics》2018,18(2):154-160
Objective
Nonmedical exemptions continue to rise because of increasing proportions of vaccine-hesitant parents. The proportion of expectant parents who are vaccine-hesitant is currently unknown. We assessed the prevalence of vaccine hesitancy among expectant parents receiving care at an obstetrics clinic in Houston, Texas.Methods
We conducted a cross-sectional survey of expectant parents between 12 and 31 weeks gestation who received care at Texas Children's Pavilion for Women between July 2014 and September 2015. Using convenience sampling, participants completed a questionnaire that included questions on demographic items, self-assessed pregnancy risk, receipt of annual influenza vaccine, and the 15-item Parents Attitudes About Childhood Vaccines survey, a validated tool to identify vaccine-hesitant parents. We used multivariable logistic regression to determine the association of demographic characteristics, pregnancy risk, and influenza vaccine receipt with vaccine hesitancy after controlling for variables significant in univariable analyses.Results
Six hundred ten expectant mothers and 38 expectant fathers completed the Parents Attitudes About Childhood Vaccines survey. Overall, 50 of 610 expectant mothers (8.2%; 95% confidence interval [CI], 6.1%–10.7%) were vaccine-hesitant. Expectant mothers were primarily non-Hispanic white, 30 years old or older, and married. The odds of being vaccine-hesitant were 2.2 times greater (95% CI, 1.2–4.1) among expectant mothers with a college level of education or less compared with those with more than a 4-year degree. The odds of being vaccine-hesitant were 7.4 times greater (95% CI, 3.9-14.0) among expectant mothers who do not receive an annual influenza vaccine compared with those who do.Conclusions
Our findings suggest the need to identify and address vaccine hesitancy among expectant parents before birth. 相似文献11.
Andreea Nissenkorn Tomer Erlich Dorit E. Zilberman Ifat Sarouk Alexander Krauthammer Noam D. Kitrey Gali Heimer Bruria BenZeev Yoram Mor 《European journal of paediatric neurology》2018,22(6):1118-1123
Background
Ataxia telangiectasia (AT) is a neurodegenerative cerebellar disorder, caused by mutations in the ATM gene, involved in DNA repair. Radiosensitivity, progressive ataxia, immune deficiency and malignancies, are well known symptoms, but urological manifestations are scarcely described.Objective
To characterize urologic manifestations in a large cohort of AT patients.Methods
Retrospective cross-sectional chart study comprising 52 AT patients followed at a National AT Center.Results
25% of the cohort (13 patients/8 males) had urologic symptoms, which presented at 11 ± 4.3 years. The most common symptom was secondary enuresis affecting 15% of the patients (8 children/4 males). Incontinence appeared at 8 ± 6.2 years of age, and resolved spontaneously within 15 ± 8.3 months in 6 patients. It preceded loss of ambulatory capacity by 1–2 years in 7 patients. Lumbosacral MRI were normal (4 children) and urine cultures (all) were negative. Urodynamic evaluation that was performed in only one patient revealed overactive bladder. Additional manifestations were macroscopic hematuria due to bladder telangiectasia in a 12-year-old, and renal cell carcinoma in a 22-year-old. Other manifestations unrelated to AT were neprolithiasis, vesico-ureteral reflux and scrotal pain, each in 1 patient.Discussion
Transient secondary enuresis is a frequent finding in AT patients, heralding loss of ambulatory capacity, tough it's pathophysiological mechanism is largely no understood. 相似文献12.
Julia R. Sharp Jonathon L. Maguire Sarah Carsley Kawsari Abdullah Yang Chen Eliana M. Perrin Patricia C. Parkin Catherine S. Birken 《Academic pediatrics》2018,18(4):445-451
Objective
Outdoor free play is important for preschoolers' physical activity, health, and development. Certain temperamental characteristics are associated with obesity, nutrition, and sedentary behaviors in preschoolers, but the relationship between temperament and outdoor play has not been examined. This study examined whether there is an association between temperament and outdoor play in young children.Methods
Healthy children aged 1 to 5 years recruited to The Applied Research Group for Kids (TARGet Kids!), a community-based primary care research network, from July 2008 to September 2013 were included. Parent-reported child temperament was assessed using the Childhood Behavior Questionnaire. Outdoor free play and other potential confounding variables were assessed through validated questionnaires. Multivariable linear regression was used to determine the association between temperament and outdoor play, adjusted for potential confounders.Results
There were 3393 children with data on outdoor play. The association between negative affectivity and outdoor play was moderated by sex; in boys, for every 1-point increase in negative affectivity score, mean outdoor play decreased by 4.7 minutes per day. There was no significant association in girls. Surgency was associated with outdoor play; for every 1-point increase in surgency/extraversion, outdoor play increased by 4.6 minutes per day.Conclusions
Young children's temperamental characteristics were associated with their participation in outdoor free play. Consideration of temperament could enhance interventions and strategies to increase outdoor play in young children. Longitudinal studies are needed to elucidate the relationship between children's early temperament and physical activity. 相似文献13.
14.
Allana Austin Jean-Pierre Lin Richard Selway Keyoumars Ashkan Tamsin Owen 《European journal of paediatric neurology》2017,21(1):185-192
Background
Dystonia is characterised by involuntary movements and postures. Deep Brain Stimulation (DBS) is effective in reducing dystonic symptoms in primary dystonia in childhood and to lesser extent in secondary dystonia. How families and children decide to choose DBS surgery has never been explored.Aims
To explore parental decision-making for DBS in paediatric secondary dystonia.Methods
Data was gathered using semi-structured interviews with eight parents of children with secondary dystonia who had undergone DBS. Interviews were analysed using Interpretative Phenomenological Analysis.Results
For all parents the decision was viewed as significant, with life altering consequences for the child. These results suggested that parents were motivated by a hope for a better life and parental duty. This was weighed against consideration of risks, what the child had to lose, and uncertainty of DBS outcome. Decisions were also influenced by the perspectives of their child and professionals.Conclusions
The decision to undergo DBS was an ongoing process for parents, who ultimately were struggling in the face of uncertainty whilst trying to do their best as parents for their children. These findings have important clinical implications given the growing referrals for consideration of DBS childhood dystonia, and highlights the importance of further quantitative research to fully establish the efficacy of DBS in secondary dystonia to enhance informed decision-making. 相似文献15.
Tamara Dostanic Breda Sustersic Darja Paro-Panjan 《European journal of paediatric neurology》2018,22(4):682-689
Background
The quality of general movements (GMs) has proven to have predictive value for the developmental outcome, but this has not yet been studied in twins.Aims
Our aim was to analyse the quality of GMs and neurological and developmental outcome in relation to the gestational age (GA), mode of conception and other perinatal risk factors in a group of twins.Study design
The documentation of twins referred for follow-up in the period from 1998 to 2016 was studied retrospectively. Data concerning the quality of GMs, perinatal risk factors and developmental outcome were analysed.Subjects
Eighty-nine twin pairs, GA from 24 to 38 weeks (median 35.0; IQR 3), birth weight 670 g–3820 g (median 2323; IQR 645) were included.Outcome measures
Results of neurological, psychological and speech/language development and school outcome were analysed.Results
GMs at term age and at three to four months postterm age did not differ with regard to the mode of conception. Preterm birth was significantly related to GMs at three to four months postterm age. At term age, GMs were significantly related to neurological outcome, while at three to four months postterm age, GMs were related to both the neurological and psychological outcome. Difficulties in speech/language development were diagnosed in almost half of the children, more frequently in boys and children with lower Apgar scores.Conclusion
The study highlights the value of GMs for predicting the developmental outcome in twins and indicates the importance of developmental, especially speech/language, follow-up in twins. 相似文献16.
Alan R. Tait Michael E. Geisser Lamira Ray Raymond J. Hutchinson Terri Voepel-Lewis 《Academic pediatrics》2018,18(4):370-375
Objective
Despite the importance of child assent, there is little consensus on what information should be disclosed and what information is most important to children for decision-making. This study was designed to compare children's/adolescents' priorities for research information with the information parents believe is most important to their children.Methods
Child-parent dyads completed separate and independent surveys regarding information (risks, benefits, etc) that they perceived to be most important to the child to make decisions about participating in a hypothetical randomized controlled trial. Parents responded in the context of what information they believed their child (not themselves) would think important.Results
Fifty-five parent-child dyads completed surveys. Although all information was deemed important, children/adolescents put greater emphasis on privacy and less on knowing the purpose of the study and the benefits compared with what their parents believed was important to their child. Adolescents (13–17 years old) placed greater importance on knowing the procedures, direct benefits, and the voluntary nature of participation compared with younger children (8–12 years old). Parents of older girls in particular placed greater emphasis on their daughter's need to know the purpose of the study, the procedures, benefits, and voluntary nature, compared with parents of boys.Conclusions
Results show that the information priorities of children/adolescents considering participation in a randomized controlled trial differ from that which their parents think is important to them. Pediatric researchers can use this knowledge to ensure that parents do not conflate their own expectations/priorities with those of their child and that children receive the information they need. 相似文献17.
JoAnna K. Leyenaar Paul A. Rizzo Dmitry Khodyakov Laurel K. Leslie Peter K. Lindenauer Rita Mangione-Smith 《Academic pediatrics》2018,18(1):94-101
Background
Children with medical complexity (CMC) account for disproportionate hospital utilization and adverse outcomes after discharge, and several gaps exist regarding the quality of hospital to home transitional care for this population. We conducted an expert elicitation process to identify important and feasible hospital to home transitional care interventions for CMC from the perspectives of parents and health care professionals.Methods
We conducted a 2-round electronic Delphi process to identify important and feasible transitional care interventions. Panelists included parents of CMC and multidisciplinary health care professionals. In the first round, panelists rated the importance and feasibility of 39 transitional care interventions on a 9-point Likert scale; agreement between panelists was defined according to RAND/UCLA Appropriateness Methods. The second round of data collection evaluated 16 interventions that panelists did not agree on in the first round and 8 new or revised interventions, accompanied by quantitative and qualitative data summaries.Results
A total of 29 parents of CMC and 37 health care professionals participated in the Delphi process (response rate 75%). Both stakeholder panels endorsed most interventions as important; health care professionals were less likely to rate several interventions as feasible compared with the parent panel. Over 2 rounds of data collection, the 2 stakeholder panels endorsed 25 interventions as important as well as feasible. These interventions related to family engagement during the hospitalization, care coordination and social support assessment, predischarge education, and written materials.Conclusions
Parents and health care professionals considered several transitional care interventions important as well as feasible. This research might inform hospitals' transitional care programs and policies. 相似文献18.
M. Blankenburg J. Junker G. Hirschfeld E. Michel F. Aksu J. Wager B. Zernikow 《European journal of paediatric neurology》2018,22(3):470-481
Introduction
Many patients with cerebral palsy (CP) suffer chronic pain as one of the most limiting factors in their quality of life. In CP patients, pain mechanisms are not well understood, and pain therapy remains a challenge. Quantitative sensory testing (QST) might provide unique information about the functional status of the somatosensory system and therefore better guide pain treatment.Objectives
To understand better the underlying pain mechanisms in pediatric CP patients, we aimed to assess clinical and pain parameters, as well as QST profiles, which were matched to the patients' cerebral imaging pathology.Patients and methods
Thirty CP patients aged 6–20 years old (mean age 12 years) without intellectual impairment underwent standardized assessments of QST. Cerebral imaging was reassessed. QST results were compared to age- and sex-matched controls (multiple linear regression; Fisher's exact test; linear correlation analysis).Results
CP patients were less sensitive to all mechanical and thermal stimuli than healthy controls but more sensitive to all mechanical pain stimuli (each p < 0.001). Fifty percent of CP patients showed a combination of mechanical hypoesthesia, thermal hypoesthesia and mechanical hyperalgesia; 67% of CP patients had periventricular leukomalacia (PVL), which was correlated with mechanic (r = 0.661; p < 0.001) and thermal (r = 0.624; p = 0.001) hypoesthesia.Conclusion
The combination of mechanical hypoesthesia, thermal hypoesthesia and mechanical hyperalgesia in our CP patients implicates lemniscal and extralemniscal neuron dysfunction in the thalamus region, likely due to PVL. We suspect that extralemniscal tracts are involved in the original of pain in our CP patients, as in adults. 相似文献19.
Irene Toldo Claudia Maria Bonardi Elisa Bettella Roberta Polli Giacomo Talenti Alberto Burlina Stefano Sartori Alessandra Murgia 《European journal of paediatric neurology》2018,22(6):1042-1053
Background
The ALDH7A1 gene is known to be responsible for autosomal recessive pyridoxine-dependent epilepsy (OMIM 266100). The phenotypic spectrum of ALDH7A1 mutations is very heterogeneous ranging from refractory epilepsy and neurodevelopmental delay, to multisystem neonatal disorder.Aim
The present study aims at describing the phenotype associated with a novel homozygous ALDH7A1 mutation and the spectrum of brain malformations associated with pyridoxine-dependent epilepsy.Methods
We conducted a literature review on the Internet database Pubmed (up to November 2017) searching for ALDH7A1 mutations associated with brain malformations and brain MRI findings.Results
We present the case of two siblings, children of related parents. The proband presented neonatal focal seizures not responding to conventional antiepileptic drugs. Electroencephalography showed a suppression burst pattern and several multifocal ictal patterns, responsive to pyridoxine. Brain MRI was normal. Molecular analysis by targeted next-generation sequencing panel for epileptic encephalopathy disclosed a homozygous missense mutation of ALDH7A1. The same mutation was then found in a stored sample of DNA from peripheral blood of an older sister dead 3 years earlier. This girl presented a complex brain malformation diagnosed with a foetal MRI and had neonatal refractory seizures with suppression burst pattern. She died at 6 months of age.Literature review
The brain abnormalities most frequently reported in pyridoxine-dependent epilepsy include: agenesia/hypoplasia of the corpus callosum, not specific white matter abnormalities, large cisterna magna, ventriculomegaly, haemorrhages, cerebellum hypoplasia/dysplasia, and, more rarely, dysplasia of the brainstem and hydrocephalus.Discussion and conclusions
ALDH7A1 mutations have been associated to different brain abnormalities, documented by MRI only in few cases. The study cases expand the clinical spectrum of ALDH7A1 associated conditions, suggesting to look for ALDH7A1 mutations not only in classical phenotypes but also in patients with brain malformations, mainly if there is a response to a pyridoxine trial. 相似文献20.
Anne T. Magpuri Jane K. Dixon Ruth McCorkle Angela A. Crowley 《Journal of pediatric health care》2018,32(1):10-20