Abstract Leigh's syndrome is a rare neurodegenerative disorder which is of autosomal recessive or mitochondrial inheritance. Global incidence is 1 in 40,000 although very few cases have been reported from India. Respiratory failure is the main cause of death in these children. An 8-year-old female presented to pediatric intensive care unit with chief complaints of seizure (generalized tonic-clonic seizure type), generalized weakness, and swelling, which on MRI and genetic study was diagnosed as Leigh syndrome or Leigh like syndrome. Genetic study revealed a new TUFM gene mutation. Patient improved over the time, oxygen was weaned gradually, and nasogastric tube feeding started, and patient shifted to ward, and discharged on oral antiepileptic therapy. A genetic counseling, early diagnosis, better understanding of disease can result in good seizure control and improved quality of life of these patients. TUFM gene mutation must be considered as a new probable genetic marker.
{"title":"Leigh Syndrome—TUFM Gene Mutation as a New Probable Genetic Marker: A Case Report","authors":"N. Jain, Harshit Bhargava, D. Dwivedi","doi":"10.1055/s-0040-1721509","DOIUrl":"https://doi.org/10.1055/s-0040-1721509","url":null,"abstract":"Abstract Leigh's syndrome is a rare neurodegenerative disorder which is of autosomal recessive or mitochondrial inheritance. Global incidence is 1 in 40,000 although very few cases have been reported from India. Respiratory failure is the main cause of death in these children. An 8-year-old female presented to pediatric intensive care unit with chief complaints of seizure (generalized tonic-clonic seizure type), generalized weakness, and swelling, which on MRI and genetic study was diagnosed as Leigh syndrome or Leigh like syndrome. Genetic study revealed a new TUFM gene mutation. Patient improved over the time, oxygen was weaned gradually, and nasogastric tube feeding started, and patient shifted to ward, and discharged on oral antiepileptic therapy. A genetic counseling, early diagnosis, better understanding of disease can result in good seizure control and improved quality of life of these patients. TUFM gene mutation must be considered as a new probable genetic marker.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2020-12-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89044721","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Abstract Eslicarbazepine acetate (ESL) is a novel, once-daily antiseizure medication. We evaluated the efficacy and safety profile of ESL treatment in epilepsy patients at a single tertiary epilepsy center. In this retrospective observational study, we included 32 patients with pharmacologically intractable epilepsy receiving ESL at Boston Children's Hospital from June 2014 to June 2018. We assessed treatment outcome in terms of efficacy and tolerability at first and last follow-up (f/u). Median age was 17 (interquartile range: 10.8–20.7; range: 6.5–36) years. Twelve (37.5%) patients, including three with seizure freedom, were responders at last f/u. Eleven patients discontinued ESL due to seizure worsening (9, 28%), adverse events (AEs) (2, 6%) or both (4, 12%). Responders showed greater seizure reduction at last f/u with fewer AEs as compared with nonresponders. Ten (31%) patients developed AEs, the most common being sleep problems (5, 15%). One-year retention rate with ESL treatment was 54%. In conclusion, ESL had a good response rate in patients with pharmacologically intractable epilepsy, with about one-third of patients developing AEs.
{"title":"Experience with Eslicarbazepine Acetate Treatment at a Pediatric Epilepsy Center","authors":"A. Tanritanir, Xiaofan Wang, T. Loddenkemper","doi":"10.1055/s-0040-1719160","DOIUrl":"https://doi.org/10.1055/s-0040-1719160","url":null,"abstract":"Abstract Eslicarbazepine acetate (ESL) is a novel, once-daily antiseizure medication. We evaluated the efficacy and safety profile of ESL treatment in epilepsy patients at a single tertiary epilepsy center. In this retrospective observational study, we included 32 patients with pharmacologically intractable epilepsy receiving ESL at Boston Children's Hospital from June 2014 to June 2018. We assessed treatment outcome in terms of efficacy and tolerability at first and last follow-up (f/u). Median age was 17 (interquartile range: 10.8–20.7; range: 6.5–36) years. Twelve (37.5%) patients, including three with seizure freedom, were responders at last f/u. Eleven patients discontinued ESL due to seizure worsening (9, 28%), adverse events (AEs) (2, 6%) or both (4, 12%). Responders showed greater seizure reduction at last f/u with fewer AEs as compared with nonresponders. Ten (31%) patients developed AEs, the most common being sleep problems (5, 15%). One-year retention rate with ESL treatment was 54%. In conclusion, ESL had a good response rate in patients with pharmacologically intractable epilepsy, with about one-third of patients developing AEs.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2020-12-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84895501","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Abstract The aim of this study was to investigate the thyroid functions in children receiving levetiracetam or valproate monotherapy. We retrospectively reviewed the records of children with controlled epilepsy receiving valproic acid (VPA group) or levetiracetam monotherapy (LEV group) for at least 6 months. Free thyroxine 4 levels (fT4) and thyroid stimulating hormone (TSH) levels were compared between VPA group, LEV group, and age- and gender-matched healthy children (control group). A total of 190 children were included in the study: 63 were in the VPA, 60 in the LEV, and 67 in the control group. Although there was no significant difference regarding average fT4 levels, higher TSH levels were found in the VPA group when compared with the LEV and control groups (p < 0.001 and p < 0.001, respectively). There was no significant difference in terms of fT4 and TSH values in the LEV group when compared with the control group (p = 0.56 and p = 0.61, respectively). Subclinical hypothyroidism (defined as a TSH level above 5 uIU/mL with a normal fT4 level was detected in 16% of patients in the VPA group, none in the LEV and control groups. Our study found that VPA therapy is associated with an increased risk of subclinical hypothyroidism while LEV had no effect on thyroid function tests.
{"title":"Thyroid Functions in Children on Levetiracetam or Valproic Acid Therapy","authors":"Elif Karatoprak, Samet Paksoy","doi":"10.1055/s-0040-1716916","DOIUrl":"https://doi.org/10.1055/s-0040-1716916","url":null,"abstract":"Abstract The aim of this study was to investigate the thyroid functions in children receiving levetiracetam or valproate monotherapy. We retrospectively reviewed the records of children with controlled epilepsy receiving valproic acid (VPA group) or levetiracetam monotherapy (LEV group) for at least 6 months. Free thyroxine 4 levels (fT4) and thyroid stimulating hormone (TSH) levels were compared between VPA group, LEV group, and age- and gender-matched healthy children (control group). A total of 190 children were included in the study: 63 were in the VPA, 60 in the LEV, and 67 in the control group. Although there was no significant difference regarding average fT4 levels, higher TSH levels were found in the VPA group when compared with the LEV and control groups (p < 0.001 and p < 0.001, respectively). There was no significant difference in terms of fT4 and TSH values in the LEV group when compared with the control group (p = 0.56 and p = 0.61, respectively). Subclinical hypothyroidism (defined as a TSH level above 5 uIU/mL with a normal fT4 level was detected in 16% of patients in the VPA group, none in the LEV and control groups. Our study found that VPA therapy is associated with an increased risk of subclinical hypothyroidism while LEV had no effect on thyroid function tests.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2020-11-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80442089","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Aliya L. Frederick, Jennifer H. Yang, Natalie Guido-Estrada, Jose Soria-Lopez, Shifteh Sattar
Abstract Diagnosing anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis clinically can be challenging. There is a growing interest in identifying specific electroencephalographic features to help guide early management. A retrospective chart review was conducted of pediatric patients admitted to Rady Children's Hospital between January 1, 2010 and April 1, 2017. We included patients with the diagnosis of encephalitis who underwent continuous video electroencephalogram (VEEG) for at least 12 hours, and presented with less than 14 days of symptoms. We compared the electroencephalographic features of non-rapid eye movement (NREM) sleep between patients with antibody confirmed anti-NMDAR encephalitis and patients with encephalitis from other etiologies. We identified seven patients who met our inclusion criteria, five of whom were diagnosed with anti-NMDAR encephalitis. Four of the five patients had a significant reduction in NREM sleep, while one patient had increased NREM sleep associated with clinical catatonia and hypersomnolence. Sleep was preserved in the two cases of nonimmune mediated encephalitis. Our results suggest that a prolonged VEEG to capture sleep coupled with clinical features can aid in early diagnosis and treatment of anti-NMDAR encephalitis, often before confirmatory antibody testing is available.
临床诊断抗n -甲基- d -天冬氨酸受体(NMDAR)脑炎可能具有挑战性。人们对识别特定脑电图特征以帮助指导早期治疗越来越感兴趣。回顾性分析Rady儿童医院2010年1月1日至2017年4月1日收治的儿科患者。我们纳入了诊断为脑炎的患者，这些患者接受了至少12小时的连续视频脑电图(VEEG)检查，并且症状持续时间少于14天。我们比较了抗体确诊的抗nmdar脑炎患者和其他病因的脑炎患者的非快速眼动(NREM)睡眠的脑电图特征。我们确定了7例符合纳入标准的患者，其中5例被诊断为抗nmdar脑炎。五名患者中有四名患者的NREM睡眠明显减少，而一名患者的NREM睡眠增加，并伴有临床紧张症和嗜睡。两例非免疫介导性脑炎患者均保留睡眠。我们的研究结果表明，延长VEEG以捕捉睡眠并结合临床特征可以帮助抗nmdar脑炎的早期诊断和治疗，通常在确认抗体检测可用之前。
{"title":"Electroencephalographic Findings in Pediatric Patients with Anti-N-Methyl-D-Aspartate Receptor Encephalitis: The San Diego Experience","authors":"Aliya L. Frederick, Jennifer H. Yang, Natalie Guido-Estrada, Jose Soria-Lopez, Shifteh Sattar","doi":"10.1055/s-0040-1718723","DOIUrl":"https://doi.org/10.1055/s-0040-1718723","url":null,"abstract":"Abstract Diagnosing anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis clinically can be challenging. There is a growing interest in identifying specific electroencephalographic features to help guide early management. A retrospective chart review was conducted of pediatric patients admitted to Rady Children's Hospital between January 1, 2010 and April 1, 2017. We included patients with the diagnosis of encephalitis who underwent continuous video electroencephalogram (VEEG) for at least 12 hours, and presented with less than 14 days of symptoms. We compared the electroencephalographic features of non-rapid eye movement (NREM) sleep between patients with antibody confirmed anti-NMDAR encephalitis and patients with encephalitis from other etiologies. We identified seven patients who met our inclusion criteria, five of whom were diagnosed with anti-NMDAR encephalitis. Four of the five patients had a significant reduction in NREM sleep, while one patient had increased NREM sleep associated with clinical catatonia and hypersomnolence. Sleep was preserved in the two cases of nonimmune mediated encephalitis. Our results suggest that a prolonged VEEG to capture sleep coupled with clinical features can aid in early diagnosis and treatment of anti-NMDAR encephalitis, often before confirmatory antibody testing is available.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2020-11-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89153531","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Abstract Shuddering attacks are rare benign nonepileptic paroxysmal events (NEPEs) seen in infancy and early childhood. These movements may look like myoclonus or infantile spasms. Recognition of these movements is important to avoid elaborate workup and antiepileptic medications. Shuddering attacks disappear by the age of 2 years in most of these children. NEPEs are almost as common as epilepsy. It is easy to differentiate the common NEPEs from epilepsy. However, it is difficult to diagnose the rare benign NEPEs not seen before. Shuddering attacks are one of these rare NEPEs. It is commonly diagnosed as infantile spasms/myoclonus unless one observes the actual event or video very carefully.
{"title":"Shuddering Attacks in an Infant","authors":"R. Koul","doi":"10.1055/s-0040-1718524","DOIUrl":"https://doi.org/10.1055/s-0040-1718524","url":null,"abstract":"Abstract Shuddering attacks are rare benign nonepileptic paroxysmal events (NEPEs) seen in infancy and early childhood. These movements may look like myoclonus or infantile spasms. Recognition of these movements is important to avoid elaborate workup and antiepileptic medications. Shuddering attacks disappear by the age of 2 years in most of these children. NEPEs are almost as common as epilepsy. It is easy to differentiate the common NEPEs from epilepsy. However, it is difficult to diagnose the rare benign NEPEs not seen before. Shuddering attacks are one of these rare NEPEs. It is commonly diagnosed as infantile spasms/myoclonus unless one observes the actual event or video very carefully.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2020-10-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86647433","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
William A. Schraegle, S. Young, Eman K. Rettig, Angie R. Payne, Janet Wilson, Elizabeth A. Wedberg-Sivam, J. Titus
Abstract The transition from pediatric to adult health care systems is challenging for many adolescents with epilepsy and their families, and those challenges are compounded for adolescents with comorbid intellectual disabilities and epilepsy (ID-E). Many traditional transition pathways to adult care are inadequate, as they fail to address important considerations unique to the ID-E population or are absent entirely. Poor organization of care during critical transition periods increases the risks of sudden unexpected death in epilepsy, suboptimal seizure control, inadequate management of comorbidities, and poor psychological and social outcomes. The literature lacks systematic studies on effective transition programs for this population. The present review provides an overview of the main themes important in care transitions for the ID-E population: (1) precise diagnosis and management of seizures; (2) mental health and medical comorbidities affecting care; (3) accessing behavioral, habilitative, legal, financial, and community resources; and (4) caretaker support. We propose a specific framework which includes targeted recommendations of minimum care standards for youth with ID-E transitioning to adult care.
{"title":"Improving Transitional Services for Adolescents and Young Adults with Epilepsy and Intellectual Disability","authors":"William A. Schraegle, S. Young, Eman K. Rettig, Angie R. Payne, Janet Wilson, Elizabeth A. Wedberg-Sivam, J. Titus","doi":"10.1055/s-0040-1716915","DOIUrl":"https://doi.org/10.1055/s-0040-1716915","url":null,"abstract":"Abstract The transition from pediatric to adult health care systems is challenging for many adolescents with epilepsy and their families, and those challenges are compounded for adolescents with comorbid intellectual disabilities and epilepsy (ID-E). Many traditional transition pathways to adult care are inadequate, as they fail to address important considerations unique to the ID-E population or are absent entirely. Poor organization of care during critical transition periods increases the risks of sudden unexpected death in epilepsy, suboptimal seizure control, inadequate management of comorbidities, and poor psychological and social outcomes. The literature lacks systematic studies on effective transition programs for this population. The present review provides an overview of the main themes important in care transitions for the ID-E population: (1) precise diagnosis and management of seizures; (2) mental health and medical comorbidities affecting care; (3) accessing behavioral, habilitative, legal, financial, and community resources; and (4) caretaker support. We propose a specific framework which includes targeted recommendations of minimum care standards for youth with ID-E transitioning to adult care.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2020-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75029361","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Amisha G Patel, S. Jan, C. Steinway, Alex F. Bullock, Adam Greenberg, Bethany Thomas, Lawrence Fried, L. Brown, Marissa Digiovine
Abstract Epilepsy is the fourth most common neurological disorder and affects people of all ages; however, at least 40% of children will continue to have seizures into adulthood. Children and youth with epilepsy (CYE) experience neurologic and extraneurologic changes that can negatively impact self-management skills necessary for optimal adult function. Those with intellectual disability have additional transition challenges. Improving the medical transition process for all CYE is vital and necessary. In this article, we will review some of the biologic, behavioral, psychologic, therapeutic, and social considerations for CYE complicating transition. We will then describe general approaches to transitioning CYE to adult care, specifically methods involving creating a framework with overarching transition aims in place, and share our experience at the Children's Hospital of Philadelphia implementing these approaches. Our comprehensive model for a formal transition policy, team structure, and ongoing assessment supporting CYE transitioning into adult care is a practical program that can be integrated into clinical care. Proper investment in the transition process will translate into measurable, significant long-term benefits for all involved.
{"title":"Epilepsy Transition in Ambulatory Care: Experiences and Benefits of an Epilepsy Transition Team","authors":"Amisha G Patel, S. Jan, C. Steinway, Alex F. Bullock, Adam Greenberg, Bethany Thomas, Lawrence Fried, L. Brown, Marissa Digiovine","doi":"10.1055/s-0040-1716913","DOIUrl":"https://doi.org/10.1055/s-0040-1716913","url":null,"abstract":"Abstract Epilepsy is the fourth most common neurological disorder and affects people of all ages; however, at least 40% of children will continue to have seizures into adulthood. Children and youth with epilepsy (CYE) experience neurologic and extraneurologic changes that can negatively impact self-management skills necessary for optimal adult function. Those with intellectual disability have additional transition challenges. Improving the medical transition process for all CYE is vital and necessary. In this article, we will review some of the biologic, behavioral, psychologic, therapeutic, and social considerations for CYE complicating transition. We will then describe general approaches to transitioning CYE to adult care, specifically methods involving creating a framework with overarching transition aims in place, and share our experience at the Children's Hospital of Philadelphia implementing these approaches. Our comprehensive model for a formal transition policy, team structure, and ongoing assessment supporting CYE transitioning into adult care is a practical program that can be integrated into clinical care. Proper investment in the transition process will translate into measurable, significant long-term benefits for all involved.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2020-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86544958","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Abstract Consensus statements and clinical reports exist to guide the transition of youth from pediatric to adult healthcare services. Across the range of youth with no chronic health conditions to those with the most complex disabilities, the standards of practice continue to vary broadly across the country and internationally. Youth and young adults with combined conditions of epilepsy with intellectual disability are a small subset of the total population of young adults who share common needs. These include a system of supports that supplement each person's limitations in autonomy and self-management. Caregivers play significant roles in their lives, whether they are family members or paid direct service providers. Medical decision making and treatment adherence require specific adaptations for patients whose independence due to disability is unlikely. Key issues related to tuberous sclerosis complex, neurofibromatosis, and Rett and Sturge–Weber syndromes will be highlighted.
{"title":"Transitioning Ambulatory Medicine from Pediatrics to Adult Care for Patients with Epilepsy and Intellectual Disability","authors":"Derryl Miller, M. Felker, M. Ciccarelli","doi":"10.1055/s-0040-1717135","DOIUrl":"https://doi.org/10.1055/s-0040-1717135","url":null,"abstract":"Abstract Consensus statements and clinical reports exist to guide the transition of youth from pediatric to adult healthcare services. Across the range of youth with no chronic health conditions to those with the most complex disabilities, the standards of practice continue to vary broadly across the country and internationally. Youth and young adults with combined conditions of epilepsy with intellectual disability are a small subset of the total population of young adults who share common needs. These include a system of supports that supplement each person's limitations in autonomy and self-management. Caregivers play significant roles in their lives, whether they are family members or paid direct service providers. Medical decision making and treatment adherence require specific adaptations for patients whose independence due to disability is unlikely. Key issues related to tuberous sclerosis complex, neurofibromatosis, and Rett and Sturge–Weber syndromes will be highlighted.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2020-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78629172","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
V. Aghamollaii, Shakila Meshkat, S. Bakhtiari, E. Alehabib, S. G. Firouzabadi, Samira Molaei, M. Kruer, H. Darvish
Abstract Guanidinoacetate methyltransferase (GAMT) deficiency is an autosomal recessive inborn error of creatine synthesis that results in intellectual disability, epilepsy, expressive language delay, and dystonia. We report data from two siblings with an uncommon GAMT deficiency phenotype and their clinical, biochemical, imaging, and treatment findings. The older sibling had intellectual disability, epilepsy, and generalized dystonia. The younger sibling had intellectual disability and generalized dystonia. After treatment with creatine, verbal fluency improved, as well as dystonia and aggression. This study confirms that in patients with unexplained intellectual disability, epilepsy, and/or movement disorders, GAMT deficiency should be considered. GAMT-associated cerebral creatine deficiency syndrome is a potentially treatable condition and can be identified by elevated levels of guanidinoacetate in plasma or urine or by a significantly decreased creatine peak on magnetic resonance spectroscopy.
{"title":"Guanidinoacetate Methyltransferase Deficiency, a Treatable Neurodevelopmental Disorder","authors":"V. Aghamollaii, Shakila Meshkat, S. Bakhtiari, E. Alehabib, S. G. Firouzabadi, Samira Molaei, M. Kruer, H. Darvish","doi":"10.1055/s-0042-1760291","DOIUrl":"https://doi.org/10.1055/s-0042-1760291","url":null,"abstract":"Abstract Guanidinoacetate methyltransferase (GAMT) deficiency is an autosomal recessive inborn error of creatine synthesis that results in intellectual disability, epilepsy, expressive language delay, and dystonia. We report data from two siblings with an uncommon GAMT deficiency phenotype and their clinical, biochemical, imaging, and treatment findings. The older sibling had intellectual disability, epilepsy, and generalized dystonia. The younger sibling had intellectual disability and generalized dystonia. After treatment with creatine, verbal fluency improved, as well as dystonia and aggression. This study confirms that in patients with unexplained intellectual disability, epilepsy, and/or movement disorders, GAMT deficiency should be considered. GAMT-associated cerebral creatine deficiency syndrome is a potentially treatable condition and can be identified by elevated levels of guanidinoacetate in plasma or urine or by a significantly decreased creatine peak on magnetic resonance spectroscopy.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2020-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89005774","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Abstract There is scarce evidence in review of the available literature to support a clear and superior model for the transition of care for epilepsy patients from pediatric to adult centers. Anecdotally, there is a common perception that families are reluctant to make this change and that the successful transition of care for epilepsy can be a challenge for patients, families, and physicians. As part of the effort to prepare the patient and family for the adult model of care, several treatment issues should be addressed. In this article, we discuss the specific challenges for physicians in transition of care for epilepsy patients from a pharmacological standpoint, which include differences in metabolism and pharmacodynamics that can impact tolerability or efficacy of antiepileptic medications, lifestyle changes affecting medication compliance and seizure control, acquired adult health conditions necessitating new medications that may result in adverse drug interactions, and adult neurologists' potential lack of familiarity with certain medications typically used in the pediatric epilepsy population. We offer this as a guide to avoid one of the many possible pitfalls when epilepsy patients transition to adult care.
{"title":"Pharmacological Considerations When Transitioning the Care of Epilepsy Patients from Pediatric to Adult Epilepsy Centers","authors":"Natalie Guido-Estrada, Shifteh Sattar","doi":"10.1055/s-0040-1716865","DOIUrl":"https://doi.org/10.1055/s-0040-1716865","url":null,"abstract":"Abstract There is scarce evidence in review of the available literature to support a clear and superior model for the transition of care for epilepsy patients from pediatric to adult centers. Anecdotally, there is a common perception that families are reluctant to make this change and that the successful transition of care for epilepsy can be a challenge for patients, families, and physicians. As part of the effort to prepare the patient and family for the adult model of care, several treatment issues should be addressed. In this article, we discuss the specific challenges for physicians in transition of care for epilepsy patients from a pharmacological standpoint, which include differences in metabolism and pharmacodynamics that can impact tolerability or efficacy of antiepileptic medications, lifestyle changes affecting medication compliance and seizure control, acquired adult health conditions necessitating new medications that may result in adverse drug interactions, and adult neurologists' potential lack of familiarity with certain medications typically used in the pediatric epilepsy population. We offer this as a guide to avoid one of the many possible pitfalls when epilepsy patients transition to adult care.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2020-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85352198","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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