Introdução
O que você precisa saber de cara
Distúrbio raro do neurodesenvolvimento com herança autossômica recessiva, caracterizado por atraso na fala/linguagem, comprometimento cognitivo e achados neurológicos como cistos periventriculares e mielinização atrasada. Início na infância.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 27 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 84 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
1 gene identificado com associação a esta condição. Padrão de herança: Autosomal recessive.
Plays a role in protein ubiquitination, sorting and degradation through its association with VCP (PubMed:27753622). Involved in ubiquitin-mediated membrane proteins trafficking to late endosomes in an ESCRT-dependent manner, and hence plays a role in synaptic vesicle recycling (By similarity). May play a role in macroautophagy, regulating for instance the clearance of damaged lysosomes (PubMed:27753622). Plays a role in cerebellar Purkinje cell development (By similarity). Positively regulates c
NucleusCytoplasmSynapse
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies
An autosomal recessive neurodevelopmental disorder characterized by progressive microcephaly, spastic quadriparesis, global developmental delay, profound intellectual disability and severely impaired or absent motor function. More variable features include seizures and optic atrophy.
Variantes genéticas (ClinVar)
98 variantes patogênicas registradas no ClinVar.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Perturbação do neurodesenvolvimento PLAA-associada
Selecione um estado ou use sua localização para ver resultados.
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
Discontinuation and reinitiation of pharmacological treatment for ADHD among individuals with ADHD and substance use disorder.
Este estudo revelou que indivíduos com TDAH e transtorno de uso de substâncias (TUS) são quase duas vezes mais propensos a descontinuar a medicação para TDAH e menos propensos a reiniciá-la, em comparação com quem tem apenas TDAH. Isso aponta para uma menor continuidade no tratamento para esse grupo, especialmente entre homens jovens e adolescentes/adultos jovens. Para pacientes, significa que a coexistência de TDAH e TUS pode dificultar a adesão ao tratamento medicamentoso. Para médicos, é crucial considerar as necessidades específicas desses pacientes, adaptando as estratégias de cuidado – principalmente para homens jovens – a fim de melhorar os resultados do tratamento e garantir maior acesso e continuidade.
🇧🇷 traduzidoThe insertion of an ATTTC repeat in an Alu element hyperactivates a neurodevelopmental enhancer in spinocerebellar ataxia type 37.
Esta pesquisa revela o mecanismo por trás da ataxia espinocerebelar tipo 37 (SCA37): uma inserção de repetição em um elemento Alu no gene DAB1 causa a hiperativação de um intensificador crucial para o desenvolvimento neural. Isso leva a níveis elevados da proteína DAB1 em neurônios de pacientes, resultando em problemas nos processos de orientação axonal. Este novo entendimento é vital para médicos e pacientes, pois abre portas para o desenvolvimento de terapias inovadoras para a SCA37 e, potencialmente, para outras doenças neurodegenerativas com mecanismos semelhantes.
🇧🇷 traduzidoImpact of pediatric gastrointestinal disorders on learning and cognitive development in schoolchildren.
Este artigo destaca que, além de fatores neurodesenvolvimentais, **distúrbios gastrointestinais pediátricos** (como doença celíaca, síndrome do intestino irritável e refluxo gastroesofágico) estão emergindo como uma causa significativa das **dificuldades de aprendizagem e desenvolvimento cognitivo** em crianças. Esses problemas intestinais podem afetar a concentração, memória e o desempenho escolar através do eixo intestino-cérebro, deficiências nutricionais (ferro, vitaminas), desconforto crônico e estresse psicológico. Para pacientes e médicos, o reconhecimento e tratamento oportuno tanto dos fatores gastrointestinais quanto dos psicológicos são cruciais, pois podem **melhorar significativamente o potencial de aprendizagem** e os resultados cognitivos em escolares.
🇧🇷 traduzidoThe relationship between the gut microbiota and neuropsychological development and behaviour during childhood and adolescence: a systematic review of epidemiological studies.
Esta revisão sistemática aponta para uma **potencial relação** entre a microbiota intestinal e o desenvolvimento neuropsicológico e o comportamento em crianças e adolescentes. Por exemplo, foram identificadas **assinaturas microbianas consistentes** em casos de Transtorno do Espectro Autista (TEA), sugerindo o envolvimento de processos imunomodulatórios e neuroativos. Contudo, a **alta heterogeneidade e as limitações metodológicas** da maioria dos estudos revisados impedem a inferência causal direta, o que significa que, embora haja um potencial, ainda é cedo para intervenções clínicas baseadas nesses achados, necessitando de pesquisas futuras mais rigorosas.
🇧🇷 traduzidoProdromal behavioral markers and developmental trajectories of autism spectrum disorder in infancy: a narrative review.
Este artigo destaca que o diagnóstico do Transtorno do Espectro Autista (TEA) ocorre tardiamente (3-5 anos), perdendo a janela crítica para intervenções precoces, apesar de existirem marcadores comportamentais desde os primeiros meses de vida. Inicialmente, sinais não específicos como atrasos motores e dificuldades de atenção podem ser observados, evoluindo para déficits sociais mais claros e comportamentos restritos e repetitivos no segundo ano. Para médicos e pais, é crucial mudar o foco de "esperar pelo diagnóstico" para "monitorar ativamente as trajetórias de desenvolvimento", visando a identificação e intervenção precoces para melhorar significativamente os resultados a longo prazo das crianças.
🇧🇷 traduzidoPublicações recentes
'Team Speech Sounds'-How Speech and Language Therapists Work With Parents of Young Children With Speech Sound Disorder: A Focus Group Study.
Teaching children with autism to challenge lies while playing board games.
Revisiting Home Environment in the Digital Age: Empirical Comparison of FCI Subscales With Screen Use in Rural China.
Policy Levers to Support the Transition From Pediatric to Adult Dental Care for People With Intellectual and Developmental Disabilities.
Reporting a Novel Disease Causing Variant in PGAP3 Associated With Hyperphosphatasia and Intellectual Disability: A Case Report and Comprehensive Literature Review.
📚 EuropePMCmostrando 197
Enhanced P-TEFb activity compromises dentate gyrus neurogenesis in mice.
The EMBO journalA Case Report of Arrhythmia in ZFHX3-Related Neurodevelopmental Disorder.
Congenital anomaliesDiscontinuation and reinitiation of pharmacological treatment for ADHD among individuals with ADHD and substance use disorder.
BMJ mental healthThe insertion of an ATTTC repeat in an Alu element hyperactivates a neurodevelopmental enhancer in spinocerebellar ataxia type 37.
Cell reports'Team Speech Sounds'-How Speech and Language Therapists Work With Parents of Young Children With Speech Sound Disorder: A Focus Group Study.
International journal of language & communication disordersAutistic symptomatology within the schizophrenia spectrum disorders: A narrative review of cognitive and social correlates and treatment implications.
Schizophrenia research. CognitionImpact of pediatric gastrointestinal disorders on learning and cognitive development in schoolchildren.
Annals of gastroenterologyThe relationship between total tau protein, phosphorylated tau protein, schizophrenia and bipolar disorder: a systematic review and meta-analysis.
Frontiers in psychiatryThe relationship between the gut microbiota and neuropsychological development and behaviour during childhood and adolescence: a systematic review of epidemiological studies.
Brain, behavior, & immunity - healthIncidental Detection of Glutamate Formiminotransferase Deficiency Through Newborn Screening in a Clinically Asymptomatic Infant: Molecular Findings and Counseling Considerations.
CureusAdvancing Mental Health Equity in Epilepsy: Social Determinants of Health Across the Lifespan.
Epilepsy currentsProdromal behavioral markers and developmental trajectories of autism spectrum disorder in infancy: a narrative review.
Frontiers in pediatricsSafety Signals Enable Single-Episode Active Avoidance paradigm and Expose Threat Generalization in Tuberous Sclerosis Complex.
bioRxiv : the preprint server for biologyDisrupted O-GalNAc glycosylation as a mechanism and biomarker of SLC35A2 -associated epilepsy.
bioRxiv : the preprint server for biologyNovel PCDH12 pathogenic missense variants cause neurodevelopmental disorders with ocular malformation.
medRxiv : the preprint server for health sciencesCharacterizing SCN1A -Related Disorders Using Real-World Data Across 681 Patient-Years.
medRxiv : the preprint server for health sciencesClassification of Adolescent Drinking via Behavioral, Biological, and Environmental Features: A Machine Learning Approach with Bias Control.
medRxiv : the preprint server for health sciencesTeaching children with autism to challenge lies while playing board games.
Journal of applied behavior analysisRevisiting Home Environment in the Digital Age: Empirical Comparison of FCI Subscales With Screen Use in Rural China.
Child: care, health and developmentPolicy Levers to Support the Transition From Pediatric to Adult Dental Care for People With Intellectual and Developmental Disabilities.
Journal of public health dentistryReporting a Novel Disease Causing Variant in PGAP3 Associated With Hyperphosphatasia and Intellectual Disability: A Case Report and Comprehensive Literature Review.
Molecular genetics & genomic medicinePulmonary Dysfunction in Children with Dystrophinopathy: A Cross-Sectional Study - Authors' Reply-2.
Indian journal of pediatricsCongenital Hydrocephalus in Central and Southern Tunisia: A 15-Year Retrospective Study of 102 Patients on the Clinical Spectrum, Management, and High Burden of Neural Tube Defects.
World neurosurgeryVideoconferencing group parent training program for caregivers of children with ADHD: A preliminary study.
Archives of psychiatric nursingIncreased serum neurodevelopmental biomarker Ndel1 activity in medicated patients with depression is associated with reduced neurite density and neuronal viability independently of intracellular Ndel1 activity.
Journal of affective disordersGenetic alterations in SUPT6H are associated with neurodevelopmental disorders.
Biochimica et biophysica acta. Molecular basis of diseasePain as muse: How creative acts flourish in the shadow of struggle.
Neuroscience and biobehavioral reviewsFunctional connectivity patterns as an early indicator of later very early preterm outcomes.
Developmental cognitive neuroscienceGlobal burden shift from infectious to non-communicable neurological disorders in adolescents and young adults (10-24 years): findings from the global burden of disease study 1990-2021.
International journal of clinical pharmacyBazedoxifene reverses sexually dimorphic autistic-like abnormalities in biallelic MDGA1-mutant mice.
EMBO molecular medicineProgressive cognitive impairment and ventricular tachycardia in a boy with biallelic POLG variants and a de novo RYR2 variation.
Scientific reportsFunctional rescue of a disease-linked ERAD pathway mutation via alternative splicing.
The EMBO journalNeuronal ARHGAP8 controls synapse structure and AMPA receptor-mediated synaptic transmission.
Communications biologyVoluntary wheel running exercise attenuates VPA-induced ASD-like behaviors in male rats: implication of the vagal pathway of the gut-brain axis.
NPJ biofilms and microbiomesPolymorphisms in GPCR genes: Their role in schizophrenia, autism diseases and response to antipsychotic treatment - A systematic review.
Progress in neuro-psychopharmacology & biological psychiatryLoss of Bassoon in telencephalic excitatory neurons stabilizes non-aversive memories and strengthens aversive associations in social and non-social contexts.
Neurobiology of diseaseFamilies Moving Forward Connect mHealth Intervention for Caregivers of Children With Fetal Alcohol Spectrum Disorders: Randomized Controlled Trial.
JMIR mHealth and uHealthRole of Transcranial Direct Current Stimulation in the Management of Autism Spectrum Disorder in Children and Adolescents: A Systematic Review and Meta-Analysis.
The primary care companion for CNS disordersPerceptions of Saudi parents of students with autism toward the responsibilities of transition plan members in implementing transition plans.
PloS oneA randomised controlled feasibility study of the Carers-ID intervention to support the mental health of family carers of people with intellectual disabilities.
PloS oneThe experiences of autistic medical students in relation to seeking and receiving online support: A phenomenological study.
PloS oneEmotion Regulation and Neurocognitive Profiles in Adolescents With Selective Mutism.
Clinical psychology & psychotherapyPatent Ductus Arteriosus Persistence and Neurodevelopmental Outcomes: A Restrictive Treatment Approach Does Not Compromise Neurological Development.
Acta paediatrica (Oslo, Norway : 1992)Combining blood biomarkers and the German version of the Dementia Screening Questionnaire for Individuals with Intellectual Disabilities (DSQIID-G) for diagnosing cognitive decline in Down syndrome.
Alzheimer's & dementia : the journal of the Alzheimer's AssociationCAPRIN1 (Cell Cycle-Associated Protein 1)-Related Neurodevelopmental Disorder: A Novel Mutation With Ataxia.
CureusHow gut microbiota contribute to neuropsychiatric disorders: evidence from neuroimaging studies.
Frontiers in microbiologyOral microbiome dysbiosis in autism spectrum disorder: the oral-gut-brain axis and future perspectives: a narrative review.
Frontiers in microbiologyMorphological changes and lateralization of the thalamic nuclei in children with growth hormone deficiency.
Frontiers in endocrinologyIntrauterine Aluminium Exposure Due to Dietary Content Alters Social Behaviours in Wistar Rat Offsprings.
Annals of neurosciencesExpanding the Phenotypic Spectrum of the Recurrent De Novo FBXO31 p.Asp334Asn Variant: Evidence for a Novel Neurodevelopmental Disorder (Kruer Syndrome).
Clinical geneticsThe association between inflammatory markers in routine blood counts at 1 year and attention-deficit/hyperactivity disorder (ADHD): A case-control study.
Journal of child psychology and psychiatry, and allied disciplinesReciprocal Associations Between Parental Anxiety/Depression and Emotional/Behavioral Difficulties in Autistic Children Following Their Diagnosis.
Autism research : official journal of the International Society for Autism ResearchEfficacy and Safety of Intravenous Immunoglobulin in Children with Autism Spectrum Disorder with Immune Dysregulation: A Prospective, Open-Label, Single-Arm Study.
Neurology and therapyWhite matter microstructure differences between 15q11.2 copy number variation carriers and non-carriers in mid-to-late life.
Translational psychiatryQualitative Insights on Preventive Group Training in LTC Facilities: Key Influencing Factors.
International journal of language & communication disordersFacilitators, barriers, and strategies in implementing early intervention for children with autism spectrum disorder aged 0-6 years: A multicenter qualitative study using the consolidated framework for implementation research.
Autism : the international journal of research and practiceReduced risk of cause-specific hospitalisations and all-cause hospitalisation/mortality during treatment with attention-deficit/hyperactivity disorder medications in the course of bipolar disorder: a Swedish registry-based within-subject cohort study.
BMJ mental healthAutism outcomes and neurobehavioural markers in young children born to mothers with HIV in Kenya: a protocol for the Alama project.
BMJ openMotivational Subdomains in Neurodevelopmental Disorders: A Heuristic Circuit Framework for Translational Validation.
Biological psychiatry. Cognitive neuroscience and neuroimagingGenotype-phenotype correlations and putative modifier genes in SYNGAP1 encephalopathy.
Neurobiology of diseaseHuman GlyRα2 pore dynamics in gating and inhibition.
Structure (London, England : 1993)Reframing schizophrenia as a neurodevelopmental syndrome: The scientific and social imperative.
Schizophrenia researchEarly Diagnoses of Concern Appear Valid in Predicting Adverse Neurodevelopmental Outcomes in Mid-Childhood.
Acta paediatrica (Oslo, Norway : 1992)[Synesthesia and autism spectrum disorder : journey on a sensory möbius strip].
Revue medicale suisseNeonatal brain abnormalities predict preschool executive functioning performance in children born very preterm.
Developmental psychologyEarly-Life Melatonin Supplementation Reduces the Long-Term Behavioral, Morphological, and Molecular Alterations in a Rat Model of Autism Spectrum Disorder.
Journal of pineal researchA novel de novo ATP2B1 variant causes autosomal dominant intellectual developmental disorder 66 by disrupting calcium homeostasis via impaired membrane trafficking.
Experimental biology and medicine (Maywood, N.J.)Relationships Between Polygenic Scores for Psychopathology and Observed Psychopathology Are Mediated by Cognitive Control and Reward Sensitivity Pathways: Insights From the ABCD Study.
Biological psychiatry global open scienceAutism spectrum disorder in children with spinal muscular atrophy type 1: Case series.
Developmental medicine and child neurologyA novel OTUD5 variant disrupts neural progenitor cell homeostasis: mechanistic insights from HEK293T cell-based analyses.
Stem cell research & therapyAn early detection framework for young Chinese learners at risk of reading difficulty using fNIRS and deep learning.
Scientific reportsAutism spectrum disorder across the lifespan: Dynamic symptom trajectories and multidimensional support framework.
Molecular psychiatryFetal developmental trajectories following maternal immune activation are shaped by sex chromosome-gonadal interactions.
Proceedings of the National Academy of Sciences of the United States of AmericaFIRST STEPS: A Pilot Randomized Study Analyzing the Preliminary Efficacy of the Incredible Years for Autism Spectrum and Language Delays (IY-ASLD®).
Journal of autism and developmental disordersCholine status and related health outcomes in humans: A scoping review.
Nutrition and healthThe neural impacts of gun violence exposure on adult attentional mechanisms: an EEG pilot study.
Cogent mental healthSomato-Psychic Pathway: a universal developmental trajectory linking somatic structural-functional integrity, autonomic regulation, and the emergence of mind.
Frontiers in integrative neurosciencemPFC pyramidal neuron synchrony during social competition to form social rankings is disrupted in male Mecp2 knockout mice.
bioRxiv : the preprint server for biologyChd8 haploinsufficiency leads to molecular layer heterotopias and age-dependent cortical expansion.
bioRxiv : the preprint server for biologyBrain functional network connectivity interpolation characterizes the neuropsychiatric continuum and heterogeneity.
bioRxiv : the preprint server for biologyDistributed Health Literacy Among People With Intellectual Disability, Their Supporters and Healthcare Professionals: A Scoping Review.
Health expectations : an international journal of public participation in health care and health policyNon-accidental burns in a neurodevelopmentally vulnerable child: A case of institutional child abuse.
The Medico-legal journalAbnormal Behavior of Dopamine Transporter Knockout Rats During Early Ontogeny.
Developmental neurobiologyThe putative role of the microbiota in the development of neuropsychiatric disorders following early childhood malnutrition.
Gut microbesPsychiatric and Cognitive Features in Italian Women With the FMR1 Premutation: A Comprehensive Assessment Using SCID-5 and Standardized Cognitive Measures.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric GeneticsIn vivo base editing reverses a neurodevelopmental disorder.
Nature biotechnologyCross-ancestry genetic architecture reveals shared biological pathways of major psychiatric disorders.
Molecular psychiatryGenomic modifiers of malignant and neurodevelopmental phenotypes in individuals with PTEN hamartoma tumor syndrome.
NPJ genomic medicineThe E3 Ubiquitin Ligase UBE3B Regulates Synaptic Development and Cortical Network Activity.
Autism research : official journal of the International Society for Autism ResearchPrenatal Maternal Stress and Weak Handedness in Early Childhood: The Iowa Flood Study.
Developmental psychobiologyMaternal Diabetes Mellitus and Child Neurodevelopmental Disorders: Rethinking Causality in Light of Environmental Pollutants.
Journal of Korean medical scienceFrom challenge to growth: A qualitative study of parental adaptation to Autism Spectrum Disorder.
PloS oneDe novo TANC2 stop-loss variant associated with developmental impairment and drug-resistant epilepsy.
Epileptic disorders : international epilepsy journal with videotapeL-2-hydroxyglutarate impairs neuronal differentiation through epigenetic activation of MYC expression.
The Journal of clinical investigationA Novel MID1 Mutation Identified in a Patient With Craniofacial Anomalies and X-Linked Intellectual Disability.
The Journal of craniofacial surgery[Interventions centered on children with autism spectrum disorder and/or their families: a scoping review].
Andes pediatrica : revista Chilena de pediatriaBiallelic SUPT4H1 Variants Cause a Multisystem Neurodevelopmental Disorder Associated with Disrupted Transcription.
Genetics in medicine : official journal of the American College of Medical GeneticsEvidence from a Narrative Review of Altered Intervention Methods and Behavioral Goals for Children with ASD in Relation to COVID-19.
Restorative neurology and neuroscienceEthical and clinical challenges in managing low-penetrance CNVs: insights from Portuguese clinical geneticists.
Frontiers in geneticsMaking Medical Decisions for Children with Profound Cognitive Disabilities: Pluralism and the Best Interest Standard.
The Hastings Center reportThe value of living systematic reviews.
Nature human behaviourFluency Is Good, but Comprehension Is Better: The Impact of Fluency and Comprehension on Mathematical Word Problem Solving.
Dyslexia (Chichester, England)Random Number Generation in Adults With Dyslexia: Further Evidence of Dyslexia-Related Executive Function Difficulties.
Dyslexia (Chichester, England)[Auricular acupoint pressing combined with visual cognitive training for children with Chinese developmental dyslexia: a randomized controlled trial].
Zhongguo zhen jiu = Chinese acupuncture & moxibustionEndothelial NMDA receptor involvement in retinal neurovascular damage following prenatal alcohol exposure in mouse model.
The Journal of neuroscience : the official journal of the Society for NeurosciencePharmaco-behavioral profiling identifies suppressors of autism gene-associated phenotypes in zebrafish.
Proceedings of the National Academy of Sciences of the United States of AmericaStrengthening Undergraduate Medical Education for Inclusive Health Care for People With Down Syndrome and Intellectual and Developmental Disabilities in Medical Schools: Protocol for a Scoping Review.
JMIR research protocolsUsing AI to enhance healthcare resource management and allocation: A focus on the autism community in Alabama.
PloS oneClinical Effects of Early Intensive Motor Intervention on Gross Motor Development in Infants and Toddlers with Developmental Delay.
Journal of visualized experiments : JoVENeurotrophic Modulation Restores Motor and Developmental Defects in Zebrafish Models of ints11 Deficiency.
Journal of neurochemistryExecutive Dysfunction in Autism Spectrum Disorder Is Associated With Increased Cerebro-Cerebellar Resting-State Functional Connectivity.
Neural plasticityMaternal and child immune profiles are associated with neurometabolite measures of early-life neuroinflammation in children who are HIV-exposed and uninfected: a South African birth cohort.
Wellcome open researchA Novel Phenotypic Presentation of Absence Seizures in a 15-Month-Old with PIGK-Related GPI Biosynthesis Disorder: A Case Report.
Case reports in neurologyIncreased dendritic inhibition of dentate gyrus granule cells in a mouse model of Down syndrome.
Frontiers in cellular neuroscienceSex differences in global metrics of brain size across the lifespan.
Frontiers in neuroscienceCare demands and professional commitments of parents of children with specific learning disabilities: a systematic review.
Frontiers in public healthCritical Components for Participation and Personal Recovery in the Flexible Assertive Community Treatment (FACT) Model: A Case Study of the Delivery Process.
International journal of integrated careEffects of video game-based interventions on executive functions and motor skills in children and adolescents with neurodevelopmental disorders: a systematic review and meta-analysis.
Frontiers in rehabilitation sciencesGenetic susceptibility to schizophrenia and the onset of brain developmental change in adolescence.
Biological psychiatryMitochondrial dysfunction and mitochondrial unfolded protein response (UPRmt): unravelling their roles in autism spectrum disorder pathogenesis.
MitochondrionRecent Updates on Lipid Landscapes in Neonatal and Adult Neurological Disorders: Advancing Mass Spectrometry and Lipidomics for Disease Insight: A Systematic Review.
CNS & neurological disorders drug targetsTemporal and Cell-Specific Regulation of Synaptic Homeostasis by the Chromatin Remodeler Chd1.
Advanced science (Weinheim, Baden-Wurttemberg, Germany)Reducing trauma-related parental stress in neurodevelopmental disorders: a randomized feasibility study.
European journal of pediatricsCorrigendum to "A pilot qualitative study of narrative medicine: Adapting parallel chart into neurodevelopmental disorders, a tool attempting to enhance engagement" [Research in Developmental Disabilities 168 (2026) 105195].
Research in developmental disabilitiesPatient-Reported Outcomes From a Randomized Controlled Trial Comparing Right Unilateral Electroconvulsive Therapy With Algorithm-Based Pharmacological Treatment in Bipolar Depression, With Long-Term Follow-Up on Pharmacological Treatment.
Bipolar disordersEffectiveness of Aquatic Therapy in Autism Spectrum Disorders.
JPMA. The Journal of the Pakistan Medical AssociationIntermittent Fasting and Akkermansia muciniphila Exert Independent and Combined Benefits on Behavioral and Neurobiological Deficits in a VPA-Induced Autism Rat Model.
NutrientsSkipping the Biopsy: Real-World Experience of Whole-Exome Sequencing as First-Tier Testing in Pediatric Muscular Disorders.
International journal of molecular sciencesExploring Photobiomodulation as a Potential Novel Intervention for Developmental Stuttering: A Review and Hypothesis.
Journal of clinical medicineResolving non‑coding splice‑altering variants using an integrative genomic and transcriptomic workflow: application to FOXP1.
Human genomicsAccurate and cost-effective workflow integrating trio pooled-WES for novel gene discovery in neurodevelopmental disorders.
European journal of human genetics : EJHGThe evolution of speech communication devices for anarthria: a review.
Journal of neurologyPerinatal liver sympathetic innervation governs body size.
Communications biologyGenetic and clinical insights into pontocerebellar hypoplasia: Identification of novel variants in an Iranian cohort.
European journal of medical geneticsGeneration of BBSOAS patient-specific induced pluripotent stem cell lines harboring six NR2F1 pathogenic variants.
Stem cell researchPrevalence of neurodevelopmental and psychiatric disorders among transgender and gender non-conforming youth and adults in a U.S. healthcare system between 2019 and 2023.
Comprehensive psychiatryPharmacokinetics and Pharmacodynamics, Efficacy and Safety of Fremanezumab in Children and Adolescents with Migraine.
European journal of drug metabolism and pharmacokineticsRepeated Stress Escalates Aggression and Activity in Fronto-Limbic Regions in Cntnap2-/- Mice.
Genes, brain, and behaviorMicroglia Mitochondria Support Neuronal Maturation via Metabolic and Transcriptional Reprogramming in Human 3D In Vitro Brain Model.
Advanced science (Weinheim, Baden-Wurttemberg, Germany)Biosignatures of cognitive basic symptoms mark a distinct neurodevelopmental pathway to schizophrenia.
Brain : a journal of neurologyMaternal obesity induces activator protein 1-mediated inflammatory response to impair embryonic neurogenesis.
The Journal of physiologyInhibitory Control and Creativity in Children With Mild Intellectual Disabilities.
Journal of applied research in intellectual disabilities : JARIDRole of the Primate Perirhinal Cortex in Memory and Emotional Regulation: Ontogeny and Early Insults.
Medical research archivesGene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification.
medRxiv : the preprint server for health sciencesUltra-rare biallelic THAP12 variants cause loss of function and underlie severe epileptic encephalopathy.
medRxiv : the preprint server for health sciencesRapunzel Syndrome in a Child With Sensory Feeding Difficulties and Attention-Deficit Hyperactivity Disorder.
CureusThe Speech Network in Childhood Stuttering: Differences in Functional Connectivity of the Planning and Motor Loops.
Neurobiology of language (Cambridge, Mass.)Non-Catatonic Mutism as a Presentation of Psychosis: A Case Study.
Psychopharmacology bulletinSleep matters: Supporting healthy sleep for children and youth with neurodevelopmental disabilities (NDDs).
Paediatrics & child healthInvestigating Communication Support Strategies as 'Micro-Interventions': A Conceptual-Methodological Framework Applying Realist Evaluation and Relevance Theory.
International journal of language & communication disordersAortoesophageal fistula from an ingested large hand needle in a nonverbal adult with autism.
Ulusal travma ve acil cerrahi dergisi = Turkish journal of trauma & emergency surgery : TJTESAssociation between craniosynostosis and neurodevelopmental disorders: a nationwide claims database.
BMC pediatricsSleep awake detection from leg-worn wearables using deep sensor fusion.
Scientific reportsTuberous sclerosis complex.
Nature reviews. Disease primersCSF1R T567M mutation induces microglial dysfunction and synaptic impairment in patient iPSC-derived cerebral organoids of CSF1R-related disorder.
Cell death discoveryZMYND11 p.Arg600Trp variant associated with a distinctive neurodevelopmental phenotype.
Human genome variationCorrigendum to "Novel VARS1 variants define new clinical and molecular subtypes of a rare neurodevelopmental syndrome" [Biochim. Biophys. Acta Mol. Basis Dis. 1872 (2026)/168184].
Biochimica et biophysica acta. Molecular basis of diseaseSpatial subdomains in the Optic Tectum for the encoding of visual information.
The Journal of neuroscience : the official journal of the Society for NeuroscienceFacility-Level Factors Associating Antenatal Corticosteroid Administration Rates and Subsequent Term Birth Rates: A Nationwide Cross-Sectional Observational Study Using the 2020-2022 Perinatal Registry Database in Japan.
The journal of obstetrics and gynaecology researchBlack carbon is detectable in association with small extracellular vesicles in fetal circulation.
Environment internationalAcceptability and feasibility of a community-hospital parenting support and prevention programme for families of infants at high neurodevelopmental risk following neonatal encephalopathy: protocol of the PRePaR (PRevention and support for Parenthood in early Rehabilitation) mixed-methods study.
BMJ openFunctional maturation of thalamic reticular nucleus during early postnatal development.
NeurosciencePluripotent stem-cell-based screening uncovers sildenafil as a mitochondrial disease therapy.
CellQualitative insights into the experiences of French parents of children with developmental coordination disorder (DCD): Child-related challenges and family implications.
Acta psychologicaBiallelic RNU2-2-related neurodevelopmental disorder presenting as Lennox-Gastaut syndrome.
Acta neurologica BelgicaAutism Screening Using Parent's Observations of Social Interactions (POSI) in High-Risk Infants.
Journal of autism and developmental disordersCase report of three siblings with nudix hydrolase 2-related neurodevelopmental disorder.
Clinical dysmorphologyGenetic and environmental influences on sleep quality, ability to settle, and crying duration in 2- and 5-month-old infants: A longitudinal twin study.
JCPP advancesEvaluating the efficacy of psychological therapies for generalised anxiety disorder in children and adolescents: A systematic review and narrative synthesis.
JCPP advancesFetal and Perinatal Brain MRI Findings in Adaptor Protein Complex 4-Associated Hereditary Spastic Paraplegia.
Annals of the Child Neurology SocietyNeurod2 knockdown in Xenopus laevis tadpole brain retains cells in a proliferating, progenitor-like state.
microPublication biologyThe Role of NLRP3 Inflammasomes in Neurological Disorders: Mechanistic Understanding and Phytochemical-Based Therapeutics.
Phytotherapy research : PTRMental Health Admissions in Child and Adolescents Over Pandemic Period: A Health Records Study.
Psychiatry investigation[Research progress in neuroprotective effects of Bacopa monnieri active components and derivatives in neurological disorders].
Zhongguo Zhong yao za zhi = Zhongguo zhongyao zazhi = China journal of Chinese materia medica[Effects of Changpu Yujin Decoction on PERK/eIF2α/ATF4 endoplasmic reticulum stress pathway in tourette syndrome model rats].
Zhongguo Zhong yao za zhi = Zhongguo zhongyao zazhi = China journal of Chinese materia medicaMind the Gap! Sleep Problems in Children With ADHD-A Qualitative Analysis of Clinician Training Needs.
Child: care, health and developmentVideo Modelling Intervention for Enhancing Social-Communication Skills of Children With Intellectual Disability.
Journal of applied research in intellectual disabilities : JARIDAbdominal Massage for Adults With an Intellectual Disability and Constipation: A Feasibility Pilot Study.
Journal of applied research in intellectual disabilities : JARIDUnaltered empathy-related behaviors in Williams-Beuren syndrome mouse models.
Molecular brainNeuropsychological profile and clinical benefits of multimodal interventions in a child with ADHD, Generalized Anxiety Disorder, and Social (Pragmatic) Communication Disorder within the context of intellectual giftedness: a case report.
Italian journal of pediatricsGenetic pathways linking oxytocin-vasotocin hypothalamic subunit architecture with psychiatric and metabolic traits.
Molecular psychiatryMultidimensional profiling of heterogeneity in supratentorial ependymomas.
NaturePrenatal antiseizure drug exposure and risk of neurodevelopmental disorders in children: population based cohort study.
BMJ (Clinical research ed.)Machine learning approaches to identifying neurodevelopmental disorders using social media data: a systematic review.
International journal of medical informaticsAnterior cingulate folding pattern is altered in autism spectrum disorder.
Cerebral cortex (New York, N.Y. : 1991)[Outpatient anesthesia for children with autism spectrum disorder].
Revue medicale suissePersonalized functional topography-based multisite brain age prediction modeling reveals divergent neurodevelopment in major depression.
Proceedings of the National Academy of Sciences of the United States of AmericaExpanding the phenotypic and immunological landscape of Alazami syndrome: Evidence from seven new patients with LARP7 gene variants.
European journal of pediatricsPara-Benzoquinone (pBQ) Modifies Human Mitochondrial Phenylalanyl-tRNA Synthetase and Contributes to Mitochondrial Dysfunction.
Chemical research in toxicologySociability, drinking motives, and alcohol use problems among young adults with and without childhood attention-deficit/hyperactivity disorder.
Alcohol, clinical & experimental research[Clinical features and genetic etiology analysis in a patient with Fliedner-Zweier syndrome caused by a de novo SCAF4 variant].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsCharacterizing a Unique Retinal Phenotype in INTS11-Associated Neurodevelopmental Disorder.
Investigative ophthalmology & visual scienceA Case of HNRNPU-Related Neurodevelopmental Disorder Presenting With Acute Encephalopathy and Basal Ganglia Lesions.
Congenital anomaliesMaternal adverse childhood experiences and prenatal stress: Intergenerational transmission and offspring mental health in the ECHO Cohort.
Psychological medicineVarCoNet: A Variability-Aware Self-Supervised Framework for Functional Connectome Extraction From Resting-State fMRI.
Human brain mappingMotor skills influence social function through health-related fitness in children with autism: a cross-sectional study.
Frontiers in public healthA novel heterozygous pathogenic variation in the MECP2 gene causing typical Rett syndrome: a case report.
Translational pediatricsAssociações
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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.
- Discontinuation and reinitiation of pharmacological treatment for ADHD among individuals with ADHD and substance use disorder.
- The insertion of an ATTTC repeat in an Alu element hyperactivates a neurodevelopmental enhancer in spinocerebellar ataxia type 37.
- Impact of pediatric gastrointestinal disorders on learning and cognitive development in schoolchildren.
- The relationship between the gut microbiota and neuropsychological development and behaviour during childhood and adolescence: a systematic review of epidemiological studies.
- Prodromal behavioral markers and developmental trajectories of autism spectrum disorder in infancy: a narrative review.
- 'Team Speech Sounds'-How Speech and Language Therapists Work With Parents of Young Children With Speech Sound Disorder: A Focus Group Study.
- Teaching children with autism to challenge lies while playing board games.
- Revisiting Home Environment in the Digital Age: Empirical Comparison of FCI Subscales With Screen Use in Rural China.
- Policy Levers to Support the Transition From Pediatric to Adult Dental Care for People With Intellectual and Developmental Disabilities.
- Reporting a Novel Disease Causing Variant in PGAP3 Associated With Hyperphosphatasia and Intellectual Disability: A Case Report and Comprehensive Literature Review.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:521426(Orphanet)
- OMIM OMIM:617527(OMIM)
- MONDO:0060502(MONDO)
- GARD:17960(GARD (NIH))
- Variantes catalogadas(ClinVar)
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.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar