Fator de crescimento fibroblástico 14 (FGF14) é uma proteína biologicamente ativa que, em humanos, é codificada pelo gene FGF14. A proteína codificada por este gene é um membro da família do fator de crescimento de fibroblastos (FGF). Os membros da família FGF possuem amplas atividades mitogênicas e de sobrevivência celular, e estão envolvidos numa variedade de processos biológicos, incluindo desenvolvimento embrionário, crescimento celular, morfogênese, reparo tecidual, crescimento de tumores e invasão. Uma mutação neste gene está associada à ataxia cerebelar autossômica dominante. Foram encontradas variantes de transcrição alternativamente processadas (spliced) para este gene.
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Doença neurológica rara com envolvimento psiquiátrico caracterizada por alterações do desenvolvimento pré-psicóticas proeminentes (cognitivas, de linguagem, motoras), distúrbios sociocomunicativos, alucinações auditivas (alucinações visuais e táteis são mais raras) precedendo sintomas psicóticos, apresentando-se antes dos 13 anos de idade. A co-ocorrência de transtornos do neurodesenvolvimento (por exemplo, transtornos do espectro autista, transtorno do défice de atenção e hiperatividade) é frequente. O curso da doença é mais grave do que a forma de início na idade adulta da doença, com grande impacto no neurodesenvolvimento.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
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Publicações mais relevantes
Zebrafish screen of schizophrenia risk genes reveals convergent dysregulation of cholesterol metabolism.
Rare coding variants provide a tractable entry point for understanding the molecular mechanisms underlying schizophrenia risk. Here, we generated and characterized zebrafish lines with mutations in the orthologs of >20 human schizophrenia-associated genes, including eight of the top ten SCHEMA genes, genes disrupted in childhood-onset schizophrenia (COS), and genes located within recurrent copy number variants. Whole-brain phospho-Erk activity mapping and behavioral profiling identified phenotypes in multiple mutant lines. We prioritized a protein-truncating mutation in sp4, which encodes an activity-dependent transcription factor, and a COS-associated missense mutation in atp1a3a, which encodes a Na+/K+ ATPase pump, for additional characterization. Both knockout and point mutations in atp1a3a disrupted brain activity and behavior in larvae and impaired navigation of a Y-maze in juveniles. Bulk RNA sequencing data from adult sp4 and atp1a3a brains highlighted convergent upregulation of sterol biosynthesis pathways, including increased expression of srebf2 and msmo1. Analysis of previously published telencephalon single-cell data demonstrated that cholesterol synthesis genes are enriched in astrocyte-like cells and increase in expression during post-larval development. Consistent with transcriptomic findings, filipin staining indicated increased free cholesterol in juvenile sp4 and atp1a3a mutant brains. Our findings identify dysregulation of glial and sterol-associated programs as a shared molecular consequence of two distinct schizophrenia risk mutations. Although whether sterol pathway dysregulation represents a primary pathogenic mechanism or a secondary response to changes in neuronal activity requires further investigation, the convergence observed between genetic models and developmental stages suggests that disruptions to lipid homeostasis could represent a shared feature of schizophrenia disease biology.
Body Weight Gain of Antipsychotics on Children and Adolescents Within 6-8 weeks: A Network Meta-Analysis.
Antipsychotic medications are prescribed in the pediatric population for various psychiatric conditions, such as schizophrenia, autism spectrum disorder, mood disorders, and other disruptive behaviors. However, the use of antipsychotic medications, particularly atypical antipsychotic medications, has raised concerns because of their potential to cause weight gain. This review aims to compare the effects of different antipsychotic medications on weight gain in children and adolescents, particularly patients with childhood-onset schizophrenia, after 6-8 weeks of antipsychotic treatment. We searched 5 online databases. Seventeen articles were included with 1360 participants being enrolled. Meta-insight was used for network meta-analysis. We used body weight gain (kilogram) collected in the included studies for calculation. Olanzapine caused the most significant weight gain. The ranking of clozapine is not as high as in adult studies. In contrast, molindone may actually reduce weight. Weight gain in patients with schizophrenia is more clinically significant than in the whole participants. Our study indicated the effects of different antipsychotic medications on body weight gain among children. Childhood-onset schizophrenia may represent a more vulnerable group. Future studies exploring genetic and physiologic risk factors for weight gain, and potential preventive strategies, are needed.
Childhood-Onset Psychosis: A large UK case series.
Childhood-Onset Psychosis (COP) is an extremely rare and severe variant of psychosis. This paper presents the largest UK case series of COP, comprising 39 families (105 individuals) recruited between 2016 and 2019. It is also the most ethnically diverse collection of COP cases worldwide, with 36% European ancestry, 23% South Asian, 18% African, 10% Mixed ancestry and 13% Other. All probands were hospitalised and diagnosed with a psychotic disorder by age 13, including schizoaffective disorder, paranoid schizophrenia, childhood-onset schizophrenia and other nonorganic psychotic disorders. The cohort had a male-to-female ratio of 1:1.4, with females diagnosed at a higher mean age (11 years 9 months) than males (10 years 6 months). While 54% of probands had no reported first-degree family history of mental disorders, 59% presented with comorbid neurodevelopmental conditions. Approximately one-third were treated with clozapine, reflecting the severity and treatment resistance of the cases.
The infraslow fluctuation of sigma power during sleep in young individuals with schizophrenia.
A well-replicated finding in schizophrenia is a reduction in sleep spindles, a major electrophysiological characteristic of Non-Rapid Eye Movement sleep. However, recent evidence indicates that even in healthy individuals, sleep spindles are not uniformly distributed throughout the night. Rather, they fluctuate rhythmically on an infraslow ∼50-second timescale, alternating between periods of high and low spindle activity. This fluctuation is referred to as the infraslow fluctuation of sigma power (10-16 Hz EEG activity, ISFS), which is modulated by noradrenergic activity from the locus coeruleus and seems to organize periods of arousability and periods of memory reactivation processes during sleep. Given the known deficit in sleep spindles, dysregulation of noradrenergic activity, and impairments in sleep maintenance and memory in schizophrenia, this study investigates the ISFS in sleep EEG data from individuals with either Childhood-Onset Schizophrenia (COS; N = 17) or Early-Onset Schizophrenia (EOS; N = 11), aged 9 to 21 years, alongside age- and sex-matched healthy controls (N = 56). The ISFS strength was reduced in both COS and EOS groups compared to controls, particularly in central-parietal electrodes. No significant difference in the ISFS strength was found between the two clinical groups, nor were there correlations between the ISFS strength and clinical characteristics or spindle density. These findings suggest that the ISFS is detectable but attenuated in young patients with schizophrenia, underscoring the value of considering spindle timing when probing disease mechanisms and designing interventions.
The burden of early onset psychosis: Diagnostic complexity, high comorbidity, and poor functioning in patients and their relatives.
The Early Psychosis Investigation Centers in Mexico (EPIMex) and Boston (EPICenter) recruit children and adolescents with early onset psychosis (EOP), their relatives, and controls to elucidate risk factors for EOP. In Mexico, data were available for 860 EOP probands, 493 relatives, and 865 controls, and in Boston, for 120 EOP probands, 182 relatives, and 60 controls. Psychiatric diagnoses were ascertained using the Structured Clinical Interview for the DSM-V (SCID-5). General cognitive ability was calculated using 7 cognitive tests. Functioning and symptoms were ascertained with the Children's Global Assessment Scale or Global Assessment of Functioning scale, and the Brief Psychiatric Rating Scale, respectively. EOP probands, relatives with and without diagnoses, and controls with nonpsychotic diagnoses were compared to controls without diagnoses. In Mexico, over 86 % of EOP probands had at least one psychiatric comorbidity, and 73 % of relatives had a psychiatric diagnosis, with 52 % having multiple diagnoses. In Boston, 77 % of EOP probands had at least one psychiatric comorbidity, and 80 % of relatives had a psychiatric diagnosis, with 42 % having multiple diagnoses. In Mexico, EOP probands, and relatives showed small cognitive deficits (effect size (ES) = 0.22-0.29, p < .05). In Boston, all groups showed large cognitive deficits (ES = 0.82-1.28, p = .001). Across both sites, all diagnostic groups (EOP probands, relatives and controls with diagnoses) showed poor functioning (ES = 0.87-1.92, p < .001), and severe symptoms (ES = 0.52-1.71, p < .02), and only 17 % of EOP probands showed "good" functioning (GAF/CGAS>70). Early onset psychosis (EOP) is associated with high comorbidity, and poor functioning in patients, and their relatives.
Publicações recentes
Zebrafish screen of schizophrenia risk genes reveals convergent dysregulation of cholesterol metabolism.
Body Weight Gain of Antipsychotics on Children and Adolescents Within 6-8 weeks: A Network Meta-Analysis.
Childhood-Onset Psychosis: A large UK case series.
The infraslow fluctuation of sigma power during sleep in young individuals with schizophrenia.
The burden of early onset psychosis: Diagnostic complexity, high comorbidity, and poor functioning in patients and their relatives.
📚 EuropePMC233 artigos no totalmostrando 97
Zebrafish screen of schizophrenia risk genes reveals convergent dysregulation of cholesterol metabolism.
bioRxiv : the preprint server for biologyBody Weight Gain of Antipsychotics on Children and Adolescents Within 6-8 weeks: A Network Meta-Analysis.
American journal of therapeuticsChildhood-Onset Psychosis: A large UK case series.
European child & adolescent psychiatryThe infraslow fluctuation of sigma power during sleep in young individuals with schizophrenia.
Schizophrenia researchThe burden of early onset psychosis: Diagnostic complexity, high comorbidity, and poor functioning in patients and their relatives.
Schizophrenia researchSchizophrenia and psychosis in children and adolescents: An inspiring journey of scientific progress and the rich influences of history and religion.
Disease-a-month : DMQuetiapine and Paediatric Psychiatrica: Evidence or Diffidence?
Psychopharmacology bulletinNeurocognitive dysfunctions in childhood-onset schizophrenia: A systematic review.
Schizophrenia research. CognitionThe diagnostic conundrum of late-onset developmental regression in child psychiatry: case series.
BJPsych openTreatment Analysis of Very Early and Early Onset Psychosis in the Youth Inpatient Setting.
HCA healthcare journal of medicine[The relationship between auditory verbal hallucination and gray matter volume and cortical thicknessin first-episode childhood-onset schizophrenia].
Zhonghua yi xue za zhiMultiple complex developmental disorder (MCDD): Did we throw the baby out with the bathwater too fast? A systematic review.
Clinical child psychology and psychiatryAn uncommon neuroradiological finding of hippocampal malrotation in childhood onset schizophrenia and 22q11.2 Deletion Syndrome: a case report and a brief review of the literature.
European child & adolescent psychiatryA comparison of clinical characteristics and course predictors in early- and childhood-onset schizophrenia.
Early intervention in psychiatryIdentification and treatment of individuals with childhood-onset and early-onset schizophrenia.
European neuropsychopharmacology : the journal of the European College of NeuropsychopharmacologyPsychotic symptoms with and without a primary psychotic disorder in children requiring inpatient mental health admission.
European psychiatry : the journal of the Association of European PsychiatristsExpanding the phenotype of UPF3B-related disorder: Case reports and literature review.
American journal of medical genetics. Part AMotion and Form Perception in Childhood-Onset Schizophrenia.
Pediatric reportsSleep spindles across youth affected by schizophrenia or anti-N-methyl-D-aspartate-receptor encephalitis.
Frontiers in psychiatryLost in Translation: Challenges in the Diagnosis and Treatment of Early-Onset Schizophrenia.
CureusChildren with Early-Onset Psychosis Have Increased Burden of Rare GRIN2A Variants.
GenesLow-Dose Clozapine in Early-Onset Resistant Schizophrenia: Case Report and 2-Year Follow-up.
Journal of the American Academy of Child and Adolescent PsychiatryTreatment resistant psychosis in children and adolescents and clozapine: Nuances.
Frontiers in psychiatryThe Triad of Childhood-Onset Schizophrenia, Autism Spectrum Disorder, and Catatonia: A Case Report.
Schizophrenia bulletinGenetic insights into childhood-onset schizophrenia: The yield of clinical exome sequencing.
Schizophrenia researchRibosomal DNA Abundance in the Patient's Genome as a Feasible Marker in Differential Diagnostics of Autism and Childhood-Onset Schizophrenia.
Journal of personalized medicineMorbidity Due to Disparity in Pediatric Electroconvulsive Therapy.
Journal of the American Academy of Child and Adolescent PsychiatryAlternating hemiplegia of childhood: a distinct clinical entity and ATP1A3-related disorders: A narrative review.
MedicineExploration of Mutated Genes and Prediction of Potential Biomarkers for Childhood-Onset Schizophrenia Using an Integrated Bioinformatic Analysis.
Frontiers in aging neuroscienceDifferentiating Childhood-Onset Schizophrenia From Other Childhood Disorders.
CureusPresentation of Mucopolysaccharidosis As Very Early Onset Schizophrenia Like Illness in Psychiatry Settings.
Neurology IndiaClozapine for Management of Childhood and Adolescent-Onset Schizophrenia: A Systematic Review and Meta-Analysis.
Journal of child and adolescent psychopharmacologyImpact on the Risk and Severity of Childhood Onset Schizophrenia of Schizophrenia Risk Genetic Variants at the DRD2 and ZNF804A Loci.
Child psychiatry and human developmentLong-Term Outcomes and Predictors of Childhood-Onset Schizophrenia: A Naturalistic Study of 6-year Follow-Up in China.
Frontiers in psychiatryNational record-linkage study of hospital admissions for schizophrenia in childhood and adolescence in England.
European child & adolescent psychiatryA novel microduplication in INPP5A segregates with schizophrenia spectrum disorder in the family of a patient with both childhood onset schizophrenia and autism spectrum disorder.
American journal of medical genetics. Part A[Neurodevelopmental Disorders, Psychiatric Comorbidities and Associated Pathologies in Patients with Childhood-Onset Schizophrenia and Premorbid Autistic Symptoms.].
Canadian journal of psychiatry. Revue canadienne de psychiatrieComparison of clinical characteristics and treatment efficacy in childhood-onset schizophrenia and adolescent-onset schizophrenia in mainland China: A retrospective study.
Early intervention in psychiatryPredictive factors in early onset schizophrenia.
Experimental and therapeutic medicineWhatever happened to multiple complex developmental disorder?
Turk pediatri arsiviSleep spindle activity in childhood onset schizophrenia: Diminished and associated with clinical symptoms.
Schizophrenia researchExpansion of the GRIA2 phenotypic representation: a novel de novo loss of function mutation in a case with childhood onset schizophrenia.
Journal of human geneticsCo-Occurrence of Autistic Spectrum Disorder and Childhood-Onset Schizophrenia.
The primary care companion for CNS disordersFunctional outcomes and patient satisfaction following inpatient treatment for childhood-onset schizophrenia spectrum disorders vs non-psychotic disorders in children in the United Kingdom.
Early intervention in psychiatrySex differences in circulating neuregulin1-β1 and β-secretase 1 expression in childhood-onset schizophrenia.
Comprehensive psychiatrySleep neurophysiology in childhood onset schizophrenia.
Journal of sleep researchChildhood-Onset Schizophrenia: A Systematic Overview of Its Genetic Heterogeneity From Classical Studies to the Genomic Era.
Frontiers in geneticsChromatin remodeling dysfunction extends the etiological spectrum of schizophrenia: a case report.
BMC medical geneticsCase Report of Childhood-Onset Psychosis in a Patient with a Known WNT10A Mutation.
Journal of the Canadian Academy of Child and Adolescent Psychiatry = Journal de l'Academie canadienne de psychiatrie de l'enfant et de l'adolescentChildhood-Onset Schizophrenia and Early-onset Schizophrenia Spectrum Disorders: An Update.
Child and adolescent psychiatric clinics of North AmericaGenetics of Childhood-onset Schizophrenia 2019 Update.
Child and adolescent psychiatric clinics of North AmericaEffects of ketamine on prepubertal Wistar rats: Implications on behavioral parameters for Childhood-Onset Schizophrenia.
International journal of developmental neuroscience : the official journal of the International Society for Developmental NeuroscienceEvidence of shared familial factors influencing neurocognitive endophenotypes in adult- and childhood-onset schizophrenia.
Psychological medicineAge Matters: an Atypical Association Between Polymorphism of MTHFR and Clinical Phenotypes in Children with Schizophrenia.
Journal of molecular neuroscience : MNDysregulated Glial Differentiation in Schizophrenia May Be Relieved by Suppression of SMAD4- and REST-Dependent Signaling.
Cell reportsComplexity in Evaluation and Pharmacological Treatment of Early Onset Psychosis with Mood Symptoms: Childhood Onset Schizophrenia or Affective Disorder?
Journal of child and adolescent psychopharmacologyAmplitude of low-frequency fluctuations in childhood-onset schizophrenia with or without obsessive-compulsive symptoms: a resting-state functional magnetic resonance imaging study.
Archives of medical science : AMSChildhood-Onset Schizophrenia: Insights from Induced Pluripotent Stem Cells.
International journal of molecular sciencesExome sequencing of sporadic childhood-onset schizophrenia suggests the contribution of X-linked genes in males.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics7 T MRI reveals hippocampal structural abnormalities associated with memory intrusions in childhood-onset schizophrenia.
Schizophrenia researchMissense variants in ATP1A3 and FXYD gene family are associated with childhood-onset schizophrenia.
Molecular psychiatryThe effects of antipsychotics on the density of cannabinoid receptors in selected brain regions of male and female adolescent juvenile rats.
Psychiatry researchSuspiciousness in young minds: Convergent evidence from non-clinical, clinical and community twin samples.
Schizophrenia researchReduced Functional Brain Activation and Connectivity During a Working Memory Task in Childhood-Onset Schizophrenia.
Journal of the American Academy of Child and Adolescent PsychiatryAdults With Childhood-Onset Schizophrenia and Their Siblings: Do Age of Onset and Familiality Affect Performance on and the Neural Signature of Working Memory Tasks?
Journal of the American Academy of Child and Adolescent PsychiatryAttenuated resting-state functional connectivity in patients with childhood- and adult-onset schizophrenia.
Schizophrenia researchSymptom dimensions and subgroups in childhood-onset schizophrenia.
Schizophrenia researchHuman iPSC Glial Mouse Chimeras Reveal Glial Contributions to Schizophrenia.
Cell stem cellDevelopmental effects of antipsychotic drugs on serotonin receptor subtypes.
Synapse (New York, N.Y.)An overview of medical risk factors for childhood psychosis: Implications for research and treatment.
Schizophrenia researchDiagnostic clusters associated with an early onset schizophrenia diagnosis among children and adolescents.
Human psychopharmacologyDTI microstructural abnormalities in adolescent siblings of patients with childhood-onset schizophrenia.
Psychiatry research. NeuroimagingA novel de novo mutation in ATP1A3 and childhood-onset schizophrenia.
Cold Spring Harbor molecular case studiesLack of Gender-Related Differences in Childhood-Onset Schizophrenia.
Journal of the American Academy of Child and Adolescent PsychiatryA Review of Childhood-Onset Schizophrenia.
Focus (American Psychiatric Publishing)Transcranial direct current stimulation in children and adolescents: a comprehensive review.
Journal of neural transmission (Vienna, Austria : 1996)Challenges and Promises of Pediatric Psychopharmacology.
Academic pediatrics[The possibility of using immunological parameters for the evaluation of the clinical state of patients with childhood-onset schizophrenia].
Zhurnal nevrologii i psikhiatrii imeni S.S. KorsakovaTranscranial Direct Current Stimulation in Child and Adolescent Psychiatry.
Journal of child and adolescent psychopharmacology15q13.3 duplication in two patients with childhood-onset schizophrenia.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric GeneticsSeverity of Cortical Thinning Correlates With Schizophrenia Spectrum Symptoms.
Journal of the American Academy of Child and Adolescent PsychiatryNetwork community structure alterations in adult schizophrenia: identification and localization of alterations.
NeuroImage. ClinicalStrong Treatment Response and High Maintenance Rates of Clozapine in Childhood-Onset Schizophrenia.
Journal of child and adolescent psychopharmacologyAltered intra- and inter-network dynamics reflect symptom dimensions in childhood-onset schizophrenia.
Brain : a journal of neurologyDe novo variants in sporadic cases of childhood onset schizophrenia.
European journal of human genetics : EJHGDisrupted sensorimotor and social-cognitive networks underlie symptoms in childhood-onset schizophrenia.
Brain : a journal of neurologyInfection and characterization of Toxoplasma gondii in human induced neurons from patients with brain disorders and healthy controls.
Microbes and infectionEnhanced conversion of induced neuronal cells (iN cells) from human fibroblasts: Utility in uncovering cellular deficits in mental illness-associated chromosomal abnormalities.
Neuroscience researchFunctional and clinical insights from neuroimaging studies in childhood-onset schizophrenia.
CNS spectrumsDelayed Development of Brain Connectivity in Adolescents With Schizophrenia and Their Unaffected Siblings.
JAMA psychiatryThe neuropathology of schizophrenia: A selective review of past studies and emerging themes in brain structure and cytoarchitecture.
Neuroscience[Replicative study of susceptibility to childhood-onset schizophrenia in Kazakhs].
GenetikaHippocampal volume change relates to clinical outcome in childhood-onset schizophrenia.
Psychological medicineChildhood-onset schizophrenia case with 2.2 Mb deletion at chromosome 3p12.2-p12.1 and two large chromosomal abnormalities at 16q22.3-q24.3 and Xq23-q28.
Clinical case reportsEffect of Clozapine and Other Antipsychotics on the Level of Platelet-Associated Autoantibodies in Children with Schizophrenia: A Longitudinal Follow-Up Study.
NeuropsychobiologyNeuroimaging findings from childhood onset schizophrenia patients and their non-psychotic siblings.
Schizophrenia researchIncidence and 12-month outcome of childhood non-affective psychoses: British national surveillance study.
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Zebrafish screen of schizophrenia risk genes reveals convergent dysregulation of cholesterol metabolism.
- Body Weight Gain of Antipsychotics on Children and Adolescents Within 6-8 weeks: A Network Meta-Analysis.
- Childhood-Onset Psychosis: A large UK case series.
- The infraslow fluctuation of sigma power during sleep in young individuals with schizophrenia.
- The burden of early onset psychosis: Diagnostic complexity, high comorbidity, and poor functioning in patients and their relatives.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:641496(Orphanet)
- MONDO:0957430(MONDO)
- GARD:4766(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
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