Sunflower Syndrome: A Survey of Provider Awareness and Management Preferences
Pediatr Neurol. 2023 Nov 30;152:177-183. doi: 10.1016/j.pediatrneurol.2023.11.013. Online ahead of print. ABSTRACT BACKGROUND: Sunflower syndrome is a rare photosensitive pediatric epilepsy characterized by stereotyped hand-waving in response to bright lights. These stereotyped movements with maintained awareness can be mistaken for a movement disorder. This study assessed neurology providers’ diagnostic reasoning, evaluation, and treatment of Sunflower […]
ARF1-related disorder: phenotypic and molecular spectrum
J Med Genet. 2023 Apr 25:jmg-2022-108803. doi: 10.1136/jmg-2022-108803. Online ahead of print. ABSTRACT PURPOSE: ARF1 was previously implicated in periventricular nodular heterotopia (PVNH) in only five individuals and systematic clinical characterisation was not available. The aim of this study is to provide a comprehensive description of the phenotypic and genotypic spectrum of ARF1-related neurodevelopmental disorder. […]
Transitional Care for Young People with Movement Disorders: Consensus-Based Recommendations from the MDS Task Force on Pediatrics
Mov Disord Clin Pract. 2023 Apr 4;10(5):748-755. doi: 10.1002/mdc3.13728. eCollection 2023 May. ABSTRACT BACKGROUND: The International Parkinson and Movement Disorders Society (MDS) set up a working group on pediatric movement disorders (MDS Task Force on Pediatrics) to generate recommendations to guide the transition process from pediatrics to adult health care systems in patients with childhood-onset […]
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition
Mol Psychiatry. 2022 Nov 16. doi: 10.1038/s41380-022-01852-9. Online ahead of print. ABSTRACT Missense and truncating variants in the X-chromosome-linked CLCN4 gene, resulting in reduced or complete loss-of-function (LOF) of the encoded chloride/proton exchanger ClC-4, were recently demonstrated to cause a neurocognitive phenotype in both males and females. Through international clinical matchmaking and interrogation of public […]
De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations
Genet Med. 2022 Aug 1:S1098-3600(22)00803-6. doi: 10.1016/j.gim.2022.06.001. Online ahead of print. ABSTRACT PURPOSE: ZMYND8 encodes a multidomain protein that serves as a central interactive hub for coordinating critical roles in transcription regulation, chromatin remodeling, regulation of super-enhancers, DNA damage response and tumor suppression. We delineate a novel neurocognitive disorder caused by variants in the ZMYND8 […]
Efficacy of Caffeine in ADCY5-Related Dyskinesia: A Retrospective Study
Mov Disord. 2022 Apr 5. doi: 10.1002/mds.29006. Online ahead of print. ABSTRACT BACKGROUND: ADCY5-related dyskinesia is characterized by early-onset movement disorders. There is currently no validated treatment, but anecdotal clinical reports and biological hypotheses suggest efficacy of caffeine. OBJECTIVE: The aim is to obtain further insight into the efficacy and safety of caffeine in patients […]
Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome
J Med Genet. 2022 Mar 1:jmedgenet-2021-108375. doi: 10.1136/jmedgenet-2021-108375. Epub ahead of print. PMID: 35232796. Abstract Background: A neurodevelopmental syndrome was recently reported in four patients with SOX4 heterozygous missense variants in the high-mobility-group (HMG) DNA-binding domain. The present study aimed to consolidate clinical and genetic knowledge of this syndrome. Methods: We newly identified 17 patients with SOX4 variants, predicted variant pathogenicity […]
Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in GEMIN5
Front Cell Dev Biol. 2022 Feb 28;10:783762. doi: 10.3389/fcell.2022.783762. eCollection 2022. ABSTRACT The hereditary ataxias are a heterogenous group of disorders with an increasing number of causative genes being described. Due to the clinical and genetic heterogeneity seen in these conditions, the majority of such individuals endure a diagnostic odyssey or remain undiagnosed. Defining the […]
Ending a diagnostic odyssey: Moving from exome to genome to identify cockayne syndrome
Mol Genet Genomic Med. 2021 Jun 2:e1623. doi: 10.1002/mgg3.1623. Online ahead of print. ABSTRACT BACKGROUND: Cockayne syndrome (CS) is a rare autosomal recessive disorder characterized by growth failure and multisystemic degeneration. Excision repair cross-complementation group 6 (ERCC6 OMIM: *609413) is the gene most frequently mutated in CS. METHODS: A child with pre and postnatal growth […]
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders
Madelyn A Gillentine Genome Med. 2021 Apr 19;13(1):63. doi: 10.1186/s13073-021-00870-6. ABSTRACT BACKGROUND: With the increasing number of genomic sequencing studies, hundreds of genes have been implicated in neurodevelopmental disorders (NDDs). The rate of gene discovery far outpaces our understanding of genotype-phenotype correlations, with clinical characterization remaining a bottleneck for understanding NDDs. Most disease-associated Mendelian genes […]