ReviewJournal of inherited metabolic disease2009
Inborn errors of metabolism and motor disturbances in children.
Review in Journal of inherited metabolic disease, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
19 citing papers in PubMed, 50 citations in OpenAlex.
- Screening Tool Improves Recognition of Movement Disorders by Internists and Paediatricians in Patients With Inherited Metabolic Diseases.Journal of inherited metabolic disease · 2025Article
- Gene replacement therapies for inherited disorders of neurotransmission: Current progress in succinic semialdehyde dehydrogenase deficiency.Journal of inherited metabolic disease · 2024Review
- Deep brain stimulation in pediatric dystonia: calls for therapeutic realism over nihilism.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2024Article
- Study design challenges and strategies in clinical trials for rare diseases: Lessons learned from pantothenate kinase-associated neurodegeneration.Frontiers in neurology · 2023Review
- Neuronal Cytoskeleton in Intellectual Disability: From Systems Biology and Modeling to Therapeutic Opportunities.International journal of molecular sciences · 2021Review
- Movement Disorders in Genetic Pediatric Ataxias.Movement disorders clinical practice · 2020Review
- Treatable inherited rare movement disorders.Movement disorders : official journal of the Movement Disorder Society · 2018Review
- Crossing barriers: a multidisciplinary approach to children and adults with young-onset movement disorders.Journal of clinical movement disorders · 2018Article
- Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study.Orphanet journal of rare diseases · 2015Article
- Diagnosis and treatment of dystonia.Neurologic clinics · 2015Review
- Rare inborn errors of metabolism with movement disorders: a case study to evaluate the impact upon quality of life and adaptive functioning.Orphanet journal of rare diseases · 2014Article
- The analysis of genetic aberrations in children with inherited neurometabolic and neurodevelopmental disorders.BioMed research international · 2014Article
- Inherited cerebellar ataxia in childhood: a pattern-recognition approach using brain MRI.AJNR. American journal of neuroradiology · 2013Review
- Pyruvate dehydrogenase-e1α deficiency presenting as recurrent demyelination: an unusual presentation and a novel mutation.JIMD reports · 2013Article
- The use of muscle biopsy in the diagnosis of undefined ataxia with cerebellar atrophy in children.European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society · 2012Article
- Diagnosis of dystonic syndromes--a new eight-question approach.Nature reviews. Neurology · 2012Review
- Study of inborn errors of metabolism in urine from patients with unexplained mental retardation.Journal of inherited metabolic disease · 2010Article
- Neurometabolic disorders.Journal of inherited metabolic disease · 2009Article
- Communication Impairments in Children with Inborn Errors of Metabolism: A Preliminary Study.Indian journal of psychological medicineArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 6 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Motor disturbances are very common in paediatric neurology. Often families can be reassured that these are just variants of normal development. However, abnormal movements can also be the hallmark of severe brain dysfunction of different and complex origins. This review concentrates on motor disturbances as frequent and important symptoms of inborn errors of metabolism. A structured diagnostic approach is developed taking into account age-dependent physiological developments and pathophysiological responses of gross and fine motor functions. A series of investigations are presented with the primary aim of early diagnosis of treatable conditions. The correct recognition and differentiation of movement disorders (ataxia, rigid akinetic syndrome (Fparkinsonism_), dystonia, athetosis, tremor,and others), spasticity, and neuromuscular disorders, requires profound neurological expertise. A high level of suspicion and close interaction between paediatric neurologists and specialists in inborn errors of metabolism are indispensable to effectively and timely identify patients in whom motor disturbances are the presenting and/or main symptom of an inborn error.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.