1 40 6 Text A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text. Citation List Month Backlog URL Address <a href="http://doi.org/10.1016/j.jpeds.2005.12.028" target="_blank" rel="noreferrer">http://doi.org/10.1016/j.jpeds.2005.12.028</a> Dublin Core The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/. Title A name given to the resource The natural history of medium-chain acyl CoA dehydrogenase deficiency in the Netherlands: clinical presentation and outcome Publisher An entity responsible for making the resource available The Journal Of Pediatrics Date A point or period of time associated with an event in the lifecycle of the resource 2006 Subject The topic of the resource Child; Humans; infant; Cohort Studies; Adult; Prognosis; Middle Aged; Disease Progression; Netherlands; Severity of Illness Index; Longitudinal Studies; adolescent; Preschool; infant; Newborn; retrospective studies; Acyl-CoA Dehydrogenase/deficiency/genetics; Mutation/genetics; Metabolism; Inborn Errors/complications/diagnosis/genetics Creator An entity primarily responsible for making the resource Derks TG; Reijngoud DJ; Waterham HR; Gerver WJ; van den Berg MP; Sauer PJ; Smit GP Description An account of the resource OBJECTIVES: To describe the clinical presentation and long-term follow-up of a large cohort of patients with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. STUDY DESIGN: A nationwide, retrospective analysis of clinical presentation and follow-up in 155 Dutch patients with MCAD deficiency. RESULTS: Most patients presented between 3 months and 5.1 years of age; 13% had symptoms as neonates not exclusively related to breast-feeding. An acute presentation before the diagnosis was made resulted in a mortality of 22% (25/114), whereas 21% (19/89) developed disabilities after the diagnosis. On follow-up, a total of 44 patients reported fatigue (35%; 28/80), muscle pain (31%; 25/80), and/or reduced exercise tolerance (39%; 31/80). Cardiac evaluation in 11 adult patients revealed no abnormalities in cardiac function explaining these complaints. Children with MCAD deficiency readily become overweight. CONCLUSIONS: Mortality and morbidity were high in undiagnosed children with MCAD deficiency; establishment of the diagnosis significantly improves outcome. Strikingly, after the diagnosis and initiation of treatment, overweight and chronic complaints (fatigue, muscle pain, and reduced exercise tolerance) were prominent. 2006 Identifier An unambiguous reference to the resource within a given context <a href="http://doi.org/10.1016/j.jpeds.2005.12.028" target="_blank" rel="noreferrer">10.1016/j.jpeds.2005.12.028</a> Rights Information about rights held in and over the resource Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s). Type The nature or genre of the resource Journal Article 2006 Acyl-CoA Dehydrogenase/deficiency/genetics Adolescent Adult Backlog Child Cohort Studies Derks TG Disease Progression Gerver WJ Humans Inborn Errors/complications/diagnosis/genetics Infant Journal Article Longitudinal Studies Metabolism Middle Aged Mutation/genetics Netherlands Newborn Preschool Prognosis Reijngoud DJ Retrospective Studies Sauer PJ Severity Of Illness Index Smit GP The Journal Of Pediatrics van den Berg MP Waterham HR Text A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text. Citation List Month Backlog URL Address <a href="http://doi.org/10.1002/ajmg.a.33314" target="_blank" rel="noreferrer">http://doi.org/10.1002/ajmg.a.33314</a> Dublin Core The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/. Title A name given to the resource Linking MECP2 and pain sensitivity: the example of Rett syndrome Publisher An entity responsible for making the resource available American Journal Of Medical Genetics.Part A Date A point or period of time associated with an event in the lifecycle of the resource 2010 Subject The topic of the resource Child; Humans; Adult; Multivariate Analysis; adolescent; Preschool; Age Distribution; Methyl-CpG-Binding Protein 2/genetics; Mutation/genetics; Pain/complications/genetics; Rett Syndrome/complications/genetics Creator An entity primarily responsible for making the resource Downs J; Geranton SM; Bebbington A; Jacoby P; Bahi-Buisson N; Ravine D; Leonard H Description An account of the resource Recent animal studies suggest links between MeCP2 function and sensitivity to pain. This study investigated the nature and prevalence of atypical pain responses in Rett syndrome and their relationships with specific MECP2 mutations. Families enrolled in the Australian Rett Syndrome Database (ARSD) and InterRett database participated in this study. Cases with a known MECP2 pathogenic mutation, whose families had completed a questionnaire on registration and had answered questions on pain sensitivity were included (n = 646). Logistic regression was used to analyze relationships between the atypical pain responses and genotype. Descriptions of decreased pain sensitivity were content analyzed. The prevalence estimate of reporting an abnormal pain response was 75.2% and a decreased sensitivity to pain was 65.0% in the population-based ARSD. Families of ARSD and InterRett subjects with a C-terminal (OR 2.6; 95% CI 0.8-8.0), p.R168X (OR 2.1; 95% CI 0.7-6.1), or p.R306C (OR 2.7; 95% CI 0.8-9.6) mutation were more likely to report decreased sensitivity to pain. Parents and carers described decreased and delayed responses in situations judged likely to cause pain such as injections, falls, trauma, and burns. This study has provided the first precise estimate of the prevalence of abnormal sensitivity to pain in Rett syndrome but specific relationships with genotype are not yet clear. Clinical practice should include a low threshold for the clinical assessment of potential injuries in Rett syndrome. 2010 Identifier An unambiguous reference to the resource within a given context <a href="http://doi.org/10.1002/ajmg.a.33314" target="_blank" rel="noreferrer">10.1002/ajmg.a.33314</a> Rights Information about rights held in and over the resource Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s). Type The nature or genre of the resource Journal Article 2010 Adolescent Adult Age Distribution American Journal Of Medical Genetics.Part A Backlog Bahi-Buisson N Bebbington A Child Downs J Geranton SM Humans Jacoby P Journal Article Leonard H Methyl-CpG-Binding Protein 2/genetics Multivariate Analysis Mutation/genetics Pain/complications/genetics Preschool Ravine D Rett Syndrome/complications/genetics Dublin Core The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/. Title A name given to the resource Treatment of Symptoms in Children with Q3 Conditions Scoping Review Results Text A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text. URL Address <a href="http://doi.org/10.1177/0883073811402688" target="_blank" rel="noreferrer noopener">http://doi.org/​10.1177/0883073811402688</a> Dublin Core The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/. Title A name given to the resource Change in gross motor abilities of girls and women with rett syndrome over a 3- to 4-year period Publisher An entity responsible for making the resource available Journal of Child Neurology Date A point or period of time associated with an event in the lifecycle of the resource 2011 Subject The topic of the resource Age Factors; Disease Progression; Young Adult; Humans; Longitudinal Studies; Adult; Adolescent; Female; Retrospective Studies; Australia; Linear Models; Mutation/genetics; Methyl-CpG-Binding Protein 2/genetics; Arginine/genetics; Motor Skills/physiology; Movement Disorders/etiology/genetics; Rett Syndrome/complications/genetics; tone and motor problems; Rett syndrome; trajectory; characteristics Creator An entity primarily responsible for making the resource Foley K R; Downs J; Bebbington A; Jacoby P; Girdler S; Kaufmann W E; Leonard H Description An account of the resource Rett syndrome is a rare but severe neurological disorder typically associated with a mutation in the MECP2 gene. We describe change in gross motor function over 3 to 4 years for 70 subjects participating in the Australian Rett Syndrome Database. Linear regression was used to assess relationships with age, genotype, and general and complex gross motor skills scores measured on the Gross Motor Scale for Rett syndrome. Skills were slightly better or maintained in approximately 40% of subjects and slightly decreased in approximately 60%. Teenagers and women who walked in 2004 were less likely to lose complex skills than those younger. Girls with a p.R294X mutation were more likely to lose complex motor skills, otherwise skill changes were spread across the mutation categories. In conclusion, small changes were observed over this period with greater stability of skills in teenagers and women with the ability to walk. Identifier An unambiguous reference to the resource within a given context <a href="http://doi.org/10.1177/0883073811402688" target="_blank" rel="noreferrer noopener">10.1177/0883073811402688</a> Rights Information about rights held in and over the resource Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s). 2011 Adolescent Adult Age Factors Arginine/genetics Australia Bebbington A characteristics Disease Progression Downs J Female Foley K R Girdler S Humans Jacoby P Journal of Child Neurology Kaufmann W E Leonard H Linear Models Longitudinal Studies Methyl-CpG-Binding Protein 2/genetics Motor Skills/physiology Movement Disorders/etiology/genetics Mutation/genetics Retrospective Studies Rett syndrome Rett Syndrome/complications/genetics tone and motor problems Trajectory Young Adult Text A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text. Citation List Month Backlog URL Address <a href="http://doi.org/10.1212/01.WNL.0000167428.12417.B2" target="_blank" rel="noreferrer">http://doi.org/10.1212/01.WNL.0000167428.12417.B2</a> Dublin Core The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/. Title A name given to the resource Late-onset neurologic disease in glutaryl-CoA dehydrogenase deficiency Publisher An entity responsible for making the resource available Neurology Date A point or period of time associated with an event in the lifecycle of the resource 2005 Subject The topic of the resource Humans; Male; Aged; Treatment Outcome; Disease Progression; Magnetic Resonance Imaging; Food; Q3 Literature Search; Brain Diseases; Age of Onset; DNA Mutational Analysis; Mutation/genetics; Metabolic; Atrophy/enzymology/genetics/physiopathology; Carnitine/therapeutic use; Cerebral Cortex/enzymology/pathology/physiopathology; Cognition Disorders/enzymology/genetics/physiopathology; Formulated; Glutaryl-CoA Dehydrogenase/deficiency; Inborn/enzymology/genetics/physiopathology; Lateral Ventricles/pathology; Movement Disorders/enzymology/genetics/physiopathology; Myelinated/pathology; Nerve Fibers Creator An entity primarily responsible for making the resource Kulkens S; Harting I; Sauer S; Zschocke J; Hoffmann GF; Gruber S; Bodamer OA; Kolker S Description An account of the resource Neurologic disease in glutaryl-CoA dehydrogenase (GCDH) deficiency usually presents with acute encephalopathic crises before 2 years of age. The authors report two previously asymptomatic patients with macrocephaly presenting with progressive neurologic deterioration and a severe leukoencephalopathy during adolescence or adulthood. 2005 Identifier An unambiguous reference to the resource within a given context <a href="http://doi.org/10.1212/01.WNL.0000167428.12417.B2" target="_blank" rel="noreferrer">10.1212/01.WNL.0000167428.12417.B2</a> Rights Information about rights held in and over the resource Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s). Type The nature or genre of the resource Journal Article 2005 Age of Onset Aged Atrophy/enzymology/genetics/physiopathology Backlog Bodamer OA Brain Diseases Carnitine/therapeutic use Cerebral Cortex/enzymology/pathology/physiopathology Cognition Disorders/enzymology/genetics/physiopathology Disease Progression DNA Mutational Analysis Food Formulated Glutaryl-CoA Dehydrogenase/deficiency Gruber S Harting I Hoffmann GF Humans Inborn/enzymology/genetics/physiopathology Journal Article Kolker S Kulkens S Lateral Ventricles/pathology Magnetic Resonance Imaging Male Metabolic Movement Disorders/enzymology/genetics/physiopathology Mutation/genetics Myelinated/pathology Nerve Fibers Neurology Q3 Scoping Review Results Sauer S Treatment Outcome Zschocke J Text A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text. Citation List Month Backlog URL Address <a href="http://doi.org/10.1136/adc.2006.094938" target="_blank" rel="noreferrer">http://doi.org/10.1136/adc.2006.094938</a> Dublin Core The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/. Title A name given to the resource Tuberous sclerosis--what's new? Publisher An entity responsible for making the resource available Archives Of Disease In Childhood Date A point or period of time associated with an event in the lifecycle of the resource 2008 Subject The topic of the resource Female; Humans; Male; Treatment Outcome; Genetic Counseling; Anticonvulsants/therapeutic use; Mutation/genetics; Disease Specific; Tuberous Sclerosis/complications/drug therapy/genetics Creator An entity primarily responsible for making the resource Osborne JP; Merrifield J; O'Callaghan FJ Identifier An unambiguous reference to the resource within a given context <a href="http://doi.org/10.1136/adc.2006.094938" target="_blank" rel="noreferrer">10.1136/adc.2006.094938</a> Rights Information about rights held in and over the resource Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s). Type The nature or genre of the resource Journal Article Description An account of the resource 2008 2008 Anticonvulsants/therapeutic use Archives of Disease in Childhood Backlog Disease Specific Female Genetic Counseling Humans Journal Article Male Merrifield J Mutation/genetics O'Callaghan FJ Osborne JP Treatment Outcome Tuberous Sclerosis/complications/drug therapy/genetics Text A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text. Citation List Month Backlog URL Address <a href="http://doi.org/10.1002/ajmg.c.20007" target="_blank" rel="noreferrer">http://doi.org/10.1002/ajmg.c.20007</a> Dublin Core The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/. Title A name given to the resource Type I glutaric aciduria, part 1: natural history of 77 patients Publisher An entity responsible for making the resource available American Journal Of Medical Genetics.Part C, Seminars In Medical Genetics Date A point or period of time associated with an event in the lifecycle of the resource 2003 Subject The topic of the resource Humans; Magnetic Resonance Imaging; Necrosis; Q3 Literature Search; Brain Diseases; Chromosomes; Human; Mutation/genetics; Dystonia/complications; Glutarates/urine; Glutaryl-CoA Dehydrogenase; Inborn/complications/diet therapy/drug therapy/genetics; Lysine/metabolism; Metabolic; Oxidoreductases Acting on CH-CH Group Donors/deficiency/genetics/metabolism; Pair 19/genetics; Putamen/blood supply/pathology; Tryptophan/metabolism Creator An entity primarily responsible for making the resource Strauss KA; Puffenberger EG; Robinson DL; Morton DH Description An account of the resource Type I glutaric aciduria (GA1) results from mitochondrial matrix flavoprotein glutaryl-CoA dehydrogenase deficiency and is a cause of acute striatal necrosis in infancy. We present detailed clinical, neuroradiologic, molecular, biochemical, and functional data on 77 patients with GA1 representative of a 14-year clinical experience. Microencephalic macrocephaly at birth is the earliest sign of GA1 and is associated with stretched bridging veins that can be a cause of subdural hematoma and acute retinal hemorrhage. Acute striatal necrosis during infancy is the principal cause of morbidity and mortality and leads to chronic oromotor, gastroesophageal, skeletal, and respiratory complications of dystonia. Injury to the putamen is heralded by abrupt-onset behavioral arrest. Tissue degeneration is stroke-like in pace, radiologic appearance, and irreversibility. It is uniformly symmetric, regionally selective, confined to children under 18 months of age, and occurs almost always during an infectious illness. Our knowledge of disease mechanisms, though incomplete, is sufficient to allow a rational approach to management of encephalopathic crises. Screening of asymptomatic newborns with GA1 followed by thoughtful prospective care reduces the incidence of radiologically and clinically evident basal ganglia injury from approximately 90% to 35%. Uninjured children have good developmental outcomes and thrive within Amish and non-Amish communities. 2003 Identifier An unambiguous reference to the resource within a given context <a href="http://doi.org/10.1002/ajmg.c.20007" target="_blank" rel="noreferrer">10.1002/ajmg.c.20007</a> Rights Information about rights held in and over the resource Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s). Type The nature or genre of the resource Journal Article 2003 American Journal Of Medical Genetics.Part C, Seminars In Medical Genetics Backlog Brain Diseases Chromosomes Dystonia/complications Glutarates/urine Glutaryl-CoA Dehydrogenase Human Humans Inborn/complications/diet therapy/drug therapy/genetics Journal Article Lysine/metabolism Magnetic Resonance Imaging Metabolic Morton DH Mutation/genetics Necrosis Oxidoreductases Acting on CH-CH Group Donors/deficiency/genetics/metabolism Pair 19/genetics Puffenberger EG Putamen/blood supply/pathology Q3 Scoping Review Results Robinson DL Strauss KA Tryptophan/metabolism