Raras
Buscar doenças, sintomas, genes...
Perturbação do neurodesenvolvimento PLAA-associada
Mantido por Agente Raras·Colaborar como especialista →

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

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
<1 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Casos conhecidos
15
pacientes catalogados
Início
Infancy
+ neonatal
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q87.8
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (5)
0202010503
Cariótipo — bandas G, Q ou Rgenetic_test
0202010600
Pesquisa de microdeleções/microduplicações por FISHlab_test
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202010260
Dosagem de alfa-fetoproteína
0301070040
Atendimento em reabilitação — doenças raras
Você se identifica com essa condição?
O Raras está aqui pra te apoiar — com ou sem diagnóstico

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🧠
Neurológico
17 sintomas
😀
Face
10 sintomas
🦴
Ossos e articulações
9 sintomas
📏
Crescimento
5 sintomas
👁️
Olhos
4 sintomas
❤️
Coração
3 sintomas

+ 27 sintomas em outras categorias

Características mais comuns

100%prev.
Atraso no desenvolvimento da fala e da linguagem
Frequente (79-30%)
100%prev.
HP:0003577
Frequência: 17/17
100%prev.
Início na infância
Frequência: 7/7
100%prev.
Cistos periventriculares
Obrigatório (100%)
100%prev.
Cavum septum pellucidum amplo
Frequência: 3/3
100%prev.
Polidrâmnio
Obrigatório (100%)
84sintomas
Muito frequente (33)
Frequente (33)
Ocasional (14)
Sem dados (4)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 84 características clínicas mais associadas, ordenadas por frequência.

Atraso no desenvolvimento da fala e da linguagemDelayed speech and language development
Frequente (79-30%)100%
HP:0003577
Frequência: 17/17100%
Início na infânciaInfantile onset
Frequência: 7/7100%
Cistos periventricularesPeriventricular cysts
Obrigatório (100%)100%
Cavum septum pellucidum amploWide cavum septum pellucidum
Frequência: 3/3100%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Últimos 10 anos200publicações
Pico2026194 papers
Linha do tempo
2026Hoje · 2026
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

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.

PLAAPhospholipase A-2-activating proteinDisease-causing germline mutation(s) (loss of function) inTolerante
FUNÇÃO

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

LOCALIZAÇÃO

NucleusCytoplasmSynapse

MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Ubíquo)
Músculo esquelético
29.0 TPM
Linfócitos
27.3 TPM
Fibroblastos
24.7 TPM
Artéria tibial
23.0 TPM
Útero
20.8 TPM
OUTRAS DOENÇAS (1)
neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies
HGNC:9043UniProt:Q9Y263

Variantes genéticas (ClinVar)

98 variantes patogênicas registradas no ClinVar.

🧬 PLAA: GRCh38/hg38 9p24.3-q21.13(chr9:208455-72054336)x3 ()
🧬 PLAA: GRCh38/hg38 9p24.3-13.1(chr9:208455-38787483)x3 ()
🧬 PLAA: NM_001031689.3(PLAA):c.734-177A>G ()
🧬 PLAA: NM_001031689.3(PLAA):c.1040-243G>T ()
🧬 PLAA: GRCh37/hg19 9p21.2(chr9:26930403-26985925)x1 ()
Ver todas no ClinVar

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Carregando informações de tratamento...

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.

🧪 Está conduzindo uma pesquisa?
Divulgue para pacientes e familiares que acompanham esta doença.
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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Discontinuation and reinitiation of pharmacological treatment for ADHD among individuals with ADHD and substance use disorder.

BMJ mental health2026 Mar 23

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.

🇧🇷 traduzido
#2

The insertion of an ATTTC repeat in an Alu element hyperactivates a neurodevelopmental enhancer in spinocerebellar ataxia type 37.

Cell reports2026 Mar 22

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.

🇧🇷 traduzido
#3

Impact of pediatric gastrointestinal disorders on learning and cognitive development in schoolchildren.

Annals of gastroenterology2026

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.

🇧🇷 traduzido
#4

The relationship between the gut microbiota and neuropsychological development and behaviour during childhood and adolescence: a systematic review of epidemiological studies.

Brain, behavior, &amp; immunity - health2026 May

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.

🇧🇷 traduzido
#5

Prodromal behavioral markers and developmental trajectories of autism spectrum disorder in infancy: a narrative review.

Frontiers in pediatrics2026

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.

🇧🇷 traduzido

Publicações recentes

📚 EuropePMCmostrando 197

2026

Enhanced P-TEFb activity compromises dentate gyrus neurogenesis in mice.

The EMBO journal
2026

A Case Report of Arrhythmia in ZFHX3-Related Neurodevelopmental Disorder.

Congenital anomalies
2026

Discontinuation and reinitiation of pharmacological treatment for ADHD among individuals with ADHD and substance use disorder.

BMJ mental health
2026

The insertion of an ATTTC repeat in an Alu element hyperactivates a neurodevelopmental enhancer in spinocerebellar ataxia type 37.

Cell reports
2026

'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 &amp; communication disorders
2026

Autistic symptomatology within the schizophrenia spectrum disorders: A narrative review of cognitive and social correlates and treatment implications.

Schizophrenia research. Cognition
2026

Impact of pediatric gastrointestinal disorders on learning and cognitive development in schoolchildren.

Annals of gastroenterology
2026

The relationship between total tau protein, phosphorylated tau protein, schizophrenia and bipolar disorder: a systematic review and meta-analysis.

Frontiers in psychiatry
2026

The relationship between the gut microbiota and neuropsychological development and behaviour during childhood and adolescence: a systematic review of epidemiological studies.

Brain, behavior, &amp; immunity - health
2026

Incidental Detection of Glutamate Formiminotransferase Deficiency Through Newborn Screening in a Clinically Asymptomatic Infant: Molecular Findings and Counseling Considerations.

Cureus
2026

Advancing Mental Health Equity in Epilepsy: Social Determinants of Health Across the Lifespan.

Epilepsy currents
2026

Prodromal behavioral markers and developmental trajectories of autism spectrum disorder in infancy: a narrative review.

Frontiers in pediatrics
2026

Safety Signals Enable Single-Episode Active Avoidance paradigm and Expose Threat Generalization in Tuberous Sclerosis Complex.

bioRxiv : the preprint server for biology
2026

Disrupted O-GalNAc glycosylation as a mechanism and biomarker of SLC35A2 -associated epilepsy.

bioRxiv : the preprint server for biology
2026

Novel PCDH12 pathogenic missense variants cause neurodevelopmental disorders with ocular malformation.

medRxiv : the preprint server for health sciences
2026

Characterizing SCN1A -Related Disorders Using Real-World Data Across 681 Patient-Years.

medRxiv : the preprint server for health sciences
2026

Classification of Adolescent Drinking via Behavioral, Biological, and Environmental Features: A Machine Learning Approach with Bias Control.

medRxiv : the preprint server for health sciences
2026

Teaching children with autism to challenge lies while playing board games.

Journal of applied behavior analysis
2026

Revisiting Home Environment in the Digital Age: Empirical Comparison of FCI Subscales With Screen Use in Rural China.

Child: care, health and development
2026

Policy Levers to Support the Transition From Pediatric to Adult Dental Care for People With Intellectual and Developmental Disabilities.

Journal of public health dentistry
2026

Reporting a Novel Disease Causing Variant in PGAP3 Associated With Hyperphosphatasia and Intellectual Disability: A Case Report and Comprehensive Literature Review.

Molecular genetics &amp; genomic medicine
2026

Pulmonary Dysfunction in Children with Dystrophinopathy: A Cross-Sectional Study - Authors' Reply-2.

Indian journal of pediatrics
2026

Congenital 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 neurosurgery
2026

Videoconferencing group parent training program for caregivers of children with ADHD: A preliminary study.

Archives of psychiatric nursing
2026

Increased 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 disorders
2026

Genetic alterations in SUPT6H are associated with neurodevelopmental disorders.

Biochimica et biophysica acta. Molecular basis of disease
2026

Pain as muse: How creative acts flourish in the shadow of struggle.

Neuroscience and biobehavioral reviews
2026

Functional connectivity patterns as an early indicator of later very early preterm outcomes.

Developmental cognitive neuroscience
2026

Global 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 pharmacy
2026

Bazedoxifene reverses sexually dimorphic autistic-like abnormalities in biallelic MDGA1-mutant mice.

EMBO molecular medicine
2026

Progressive cognitive impairment and ventricular tachycardia in a boy with biallelic POLG variants and a de novo RYR2 variation.

Scientific reports
2026

Functional rescue of a disease-linked ERAD pathway mutation via alternative splicing.

The EMBO journal
2026

Neuronal ARHGAP8 controls synapse structure and AMPA receptor-mediated synaptic transmission.

Communications biology
2026

Voluntary 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 microbiomes
2026

Polymorphisms in GPCR genes: Their role in schizophrenia, autism diseases and response to antipsychotic treatment - A systematic review.

Progress in neuro-psychopharmacology &amp; biological psychiatry
2026

Loss of Bassoon in telencephalic excitatory neurons stabilizes non-aversive memories and strengthens aversive associations in social and non-social contexts.

Neurobiology of disease
2026

Families Moving Forward Connect mHealth Intervention for Caregivers of Children With Fetal Alcohol Spectrum Disorders: Randomized Controlled Trial.

JMIR mHealth and uHealth
2026

Role 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 disorders
2026

Perceptions of Saudi parents of students with autism toward the responsibilities of transition plan members in implementing transition plans.

PloS one
2026

A randomised controlled feasibility study of the Carers-ID intervention to support the mental health of family carers of people with intellectual disabilities.

PloS one
2026

The experiences of autistic medical students in relation to seeking and receiving online support: A phenomenological study.

PloS one
2026

Emotion Regulation and Neurocognitive Profiles in Adolescents With Selective Mutism.

Clinical psychology &amp; psychotherapy
2026

Patent Ductus Arteriosus Persistence and Neurodevelopmental Outcomes: A Restrictive Treatment Approach Does Not Compromise Neurological Development.

Acta paediatrica (Oslo, Norway : 1992)
2026

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 &amp; dementia : the journal of the Alzheimer's Association
2026

CAPRIN1 (Cell Cycle-Associated Protein 1)-Related Neurodevelopmental Disorder: A Novel Mutation With Ataxia.

Cureus
2026

How gut microbiota contribute to neuropsychiatric disorders: evidence from neuroimaging studies.

Frontiers in microbiology
2026

Oral microbiome dysbiosis in autism spectrum disorder: the oral-gut-brain axis and future perspectives: a narrative review.

Frontiers in microbiology
2025

Morphological changes and lateralization of the thalamic nuclei in children with growth hormone deficiency.

Frontiers in endocrinology
2026

Intrauterine Aluminium Exposure Due to Dietary Content Alters Social Behaviours in Wistar Rat Offsprings.

Annals of neurosciences
2026

Expanding the Phenotypic Spectrum of the Recurrent De Novo FBXO31 p.Asp334Asn Variant: Evidence for a Novel Neurodevelopmental Disorder (Kruer Syndrome).

Clinical genetics
2026

The 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 disciplines
2026

Reciprocal 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 Research
2026

Efficacy and Safety of Intravenous Immunoglobulin in Children with Autism Spectrum Disorder with Immune Dysregulation: A Prospective, Open-Label, Single-Arm Study.

Neurology and therapy
2026

White matter microstructure differences between 15q11.2 copy number variation carriers and non-carriers in mid-to-late life.

Translational psychiatry
2026

Qualitative Insights on Preventive Group Training in LTC Facilities: Key Influencing Factors.

International journal of language &amp; communication disorders
2026

Facilitators, 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 practice
2026

Reduced 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 health
2026

Autism outcomes and neurobehavioural markers in young children born to mothers with HIV in Kenya: a protocol for the Alama project.

BMJ open
2026

Motivational Subdomains in Neurodevelopmental Disorders: A Heuristic Circuit Framework for Translational Validation.

Biological psychiatry. Cognitive neuroscience and neuroimaging
2026

Genotype-phenotype correlations and putative modifier genes in SYNGAP1 encephalopathy.

Neurobiology of disease
2026

Human GlyRα2 pore dynamics in gating and inhibition.

Structure (London, England : 1993)
2026

Reframing schizophrenia as a neurodevelopmental syndrome: The scientific and social imperative.

Schizophrenia research
2026

Early Diagnoses of Concern Appear Valid in Predicting Adverse Neurodevelopmental Outcomes in Mid-Childhood.

Acta paediatrica (Oslo, Norway : 1992)
2026

[Synesthesia and autism spectrum disorder : journey on a sensory möbius strip].

Revue medicale suisse
2026

Neonatal brain abnormalities predict preschool executive functioning performance in children born very preterm.

Developmental psychology
2026

Early-Life Melatonin Supplementation Reduces the Long-Term Behavioral, Morphological, and Molecular Alterations in a Rat Model of Autism Spectrum Disorder.

Journal of pineal research
2026

A 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.)
2026

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 science
2026

Autism spectrum disorder in children with spinal muscular atrophy type 1: Case series.

Developmental medicine and child neurology
2026

A novel OTUD5 variant disrupts neural progenitor cell homeostasis: mechanistic insights from HEK293T cell-based analyses.

Stem cell research &amp; therapy
2026

An early detection framework for young Chinese learners at risk of reading difficulty using fNIRS and deep learning.

Scientific reports
2026

Autism spectrum disorder across the lifespan: Dynamic symptom trajectories and multidimensional support framework.

Molecular psychiatry
2026

Fetal 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 America
2026

FIRST 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 disorders
2026

Choline status and related health outcomes in humans: A scoping review.

Nutrition and health
2026

The neural impacts of gun violence exposure on adult attentional mechanisms: an EEG pilot study.

Cogent mental health
2026

Somato-Psychic Pathway: a universal developmental trajectory linking somatic structural-functional integrity, autonomic regulation, and the emergence of mind.

Frontiers in integrative neuroscience
2026

mPFC pyramidal neuron synchrony during social competition to form social rankings is disrupted in male Mecp2 knockout mice.

bioRxiv : the preprint server for biology
2026

Chd8 haploinsufficiency leads to molecular layer heterotopias and age-dependent cortical expansion.

bioRxiv : the preprint server for biology
2026

Brain functional network connectivity interpolation characterizes the neuropsychiatric continuum and heterogeneity.

bioRxiv : the preprint server for biology
2026

Distributed 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 policy
2026

Non-accidental burns in a neurodevelopmentally vulnerable child: A case of institutional child abuse.

The Medico-legal journal
2026

Abnormal Behavior of Dopamine Transporter Knockout Rats During Early Ontogeny.

Developmental neurobiology
2026

The putative role of the microbiota in the development of neuropsychiatric disorders following early childhood malnutrition.

Gut microbes
2026

Psychiatric 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 Genetics
2026

In vivo base editing reverses a neurodevelopmental disorder.

Nature biotechnology
2026

Cross-ancestry genetic architecture reveals shared biological pathways of major psychiatric disorders.

Molecular psychiatry
2026

Genomic modifiers of malignant and neurodevelopmental phenotypes in individuals with PTEN hamartoma tumor syndrome.

NPJ genomic medicine
2026

The E3 Ubiquitin Ligase UBE3B Regulates Synaptic Development and Cortical Network Activity.

Autism research : official journal of the International Society for Autism Research
2026

Prenatal Maternal Stress and Weak Handedness in Early Childhood: The Iowa Flood Study.

Developmental psychobiology
2026

Maternal Diabetes Mellitus and Child Neurodevelopmental Disorders: Rethinking Causality in Light of Environmental Pollutants.

Journal of Korean medical science
2026

From challenge to growth: A qualitative study of parental adaptation to Autism Spectrum Disorder.

PloS one
2026

De novo TANC2 stop-loss variant associated with developmental impairment and drug-resistant epilepsy.

Epileptic disorders : international epilepsy journal with videotape
2026

L-2-hydroxyglutarate impairs neuronal differentiation through epigenetic activation of MYC expression.

The Journal of clinical investigation
2026

A Novel MID1 Mutation Identified in a Patient With Craniofacial Anomalies and X-Linked Intellectual Disability.

The Journal of craniofacial surgery
2025

[Interventions centered on children with autism spectrum disorder and/or their families: a scoping review].

Andes pediatrica : revista Chilena de pediatria
2026

Biallelic SUPT4H1 Variants Cause a Multisystem Neurodevelopmental Disorder Associated with Disrupted Transcription.

Genetics in medicine : official journal of the American College of Medical Genetics
2026

Evidence from a Narrative Review of Altered Intervention Methods and Behavioral Goals for Children with ASD in Relation to COVID-19.

Restorative neurology and neuroscience
2026

Ethical and clinical challenges in managing low-penetrance CNVs: insights from Portuguese clinical geneticists.

Frontiers in genetics
2026

Making Medical Decisions for Children with Profound Cognitive Disabilities: Pluralism and the Best Interest Standard.

The Hastings Center report
2026

The value of living systematic reviews.

Nature human behaviour
2026

Fluency Is Good, but Comprehension Is Better: The Impact of Fluency and Comprehension on Mathematical Word Problem Solving.

Dyslexia (Chichester, England)
2026

Random Number Generation in Adults With Dyslexia: Further Evidence of Dyslexia-Related Executive Function Difficulties.

Dyslexia (Chichester, England)
2026

[Auricular acupoint pressing combined with visual cognitive training for children with Chinese developmental dyslexia: a randomized controlled trial].

Zhongguo zhen jiu = Chinese acupuncture &amp; moxibustion
2026

Endothelial 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 Neuroscience
2026

Pharmaco-behavioral profiling identifies suppressors of autism gene-associated phenotypes in zebrafish.

Proceedings of the National Academy of Sciences of the United States of America
2026

Strengthening 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 protocols
2026

Using AI to enhance healthcare resource management and allocation: A focus on the autism community in Alabama.

PloS one
2026

Clinical Effects of Early Intensive Motor Intervention on Gross Motor Development in Infants and Toddlers with Developmental Delay.

Journal of visualized experiments : JoVE
2026

Neurotrophic Modulation Restores Motor and Developmental Defects in Zebrafish Models of ints11 Deficiency.

Journal of neurochemistry
2026

Executive Dysfunction in Autism Spectrum Disorder Is Associated With Increased Cerebro-Cerebellar Resting-State Functional Connectivity.

Neural plasticity
2025

Maternal 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 research
2026

A Novel Phenotypic Presentation of Absence Seizures in a 15-Month-Old with PIGK-Related GPI Biosynthesis Disorder: A Case Report.

Case reports in neurology
2026

Increased dendritic inhibition of dentate gyrus granule cells in a mouse model of Down syndrome.

Frontiers in cellular neuroscience
2026

Sex differences in global metrics of brain size across the lifespan.

Frontiers in neuroscience
2026

Care demands and professional commitments of parents of children with specific learning disabilities: a systematic review.

Frontiers in public health
2026

Critical 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 care
2026

Effects 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 sciences
2026

Genetic susceptibility to schizophrenia and the onset of brain developmental change in adolescence.

Biological psychiatry
2026

Mitochondrial dysfunction and mitochondrial unfolded protein response (UPRmt): unravelling their roles in autism spectrum disorder pathogenesis.

Mitochondrion
2026

Recent Updates on Lipid Landscapes in Neonatal and Adult Neurological Disorders: Advancing Mass Spectrometry and Lipidomics for Disease Insight: A Systematic Review.

CNS &amp; neurological disorders drug targets
2026

Temporal and Cell-Specific Regulation of Synaptic Homeostasis by the Chromatin Remodeler Chd1.

Advanced science (Weinheim, Baden-Wurttemberg, Germany)
2026

Reducing trauma-related parental stress in neurodevelopmental disorders: a randomized feasibility study.

European journal of pediatrics
2026

Corrigendum 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 disabilities
2026

Patient-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 disorders
2026

Effectiveness of Aquatic Therapy in Autism Spectrum Disorders.

JPMA. The Journal of the Pakistan Medical Association
2026

Intermittent Fasting and Akkermansia muciniphila Exert Independent and Combined Benefits on Behavioral and Neurobiological Deficits in a VPA-Induced Autism Rat Model.

Nutrients
2026

Skipping the Biopsy: Real-World Experience of Whole-Exome Sequencing as First-Tier Testing in Pediatric Muscular Disorders.

International journal of molecular sciences
2026

Exploring Photobiomodulation as a Potential Novel Intervention for Developmental Stuttering: A Review and Hypothesis.

Journal of clinical medicine
2026

Resolving non‑coding splice‑altering variants using an integrative genomic and transcriptomic workflow: application to FOXP1.

Human genomics
2026

Accurate and cost-effective workflow integrating trio pooled-WES for novel gene discovery in neurodevelopmental disorders.

European journal of human genetics : EJHG
2026

The evolution of speech communication devices for anarthria: a review.

Journal of neurology
2026

Perinatal liver sympathetic innervation governs body size.

Communications biology
2026

Genetic and clinical insights into pontocerebellar hypoplasia: Identification of novel variants in an Iranian cohort.

European journal of medical genetics
2026

Generation of BBSOAS patient-specific induced pluripotent stem cell lines harboring six NR2F1 pathogenic variants.

Stem cell research
2026

Prevalence 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 psychiatry
2026

Pharmacokinetics and Pharmacodynamics, Efficacy and Safety of Fremanezumab in Children and Adolescents with Migraine.

European journal of drug metabolism and pharmacokinetics
2026

Repeated Stress Escalates Aggression and Activity in Fronto-Limbic Regions in Cntnap2-/- Mice.

Genes, brain, and behavior
2026

Microglia Mitochondria Support Neuronal Maturation via Metabolic and Transcriptional Reprogramming in Human 3D In Vitro Brain Model.

Advanced science (Weinheim, Baden-Wurttemberg, Germany)
2026

Biosignatures of cognitive basic symptoms mark a distinct neurodevelopmental pathway to schizophrenia.

Brain : a journal of neurology
2026

Maternal obesity induces activator protein 1-mediated inflammatory response to impair embryonic neurogenesis.

The Journal of physiology
2026

Inhibitory Control and Creativity in Children With Mild Intellectual Disabilities.

Journal of applied research in intellectual disabilities : JARID
2026

Role of the Primate Perirhinal Cortex in Memory and Emotional Regulation: Ontogeny and Early Insults.

Medical research archives
2026

Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification.

medRxiv : the preprint server for health sciences
2026

Ultra-rare biallelic THAP12 variants cause loss of function and underlie severe epileptic encephalopathy.

medRxiv : the preprint server for health sciences
2026

Rapunzel Syndrome in a Child With Sensory Feeding Difficulties and Attention-Deficit Hyperactivity Disorder.

Cureus
2026

The Speech Network in Childhood Stuttering: Differences in Functional Connectivity of the Planning and Motor Loops.

Neurobiology of language (Cambridge, Mass.)
2026

Non-Catatonic Mutism as a Presentation of Psychosis: A Case Study.

Psychopharmacology bulletin
2026

Sleep matters: Supporting healthy sleep for children and youth with neurodevelopmental disabilities (NDDs).

Paediatrics &amp; child health
2026

Investigating Communication Support Strategies as 'Micro-Interventions': A Conceptual-Methodological Framework Applying Realist Evaluation and Relevance Theory.

International journal of language &amp; communication disorders
2026

Aortoesophageal fistula from an ingested large hand needle in a nonverbal adult with autism.

Ulusal travma ve acil cerrahi dergisi = Turkish journal of trauma &amp; emergency surgery : TJTES
2026

Association between craniosynostosis and neurodevelopmental disorders: a nationwide claims database.

BMC pediatrics
2026

Sleep awake detection from leg-worn wearables using deep sensor fusion.

Scientific reports
2026

Tuberous sclerosis complex.

Nature reviews. Disease primers
2026

CSF1R T567M mutation induces microglial dysfunction and synaptic impairment in patient iPSC-derived cerebral organoids of CSF1R-related disorder.

Cell death discovery
2026

ZMYND11 p.Arg600Trp variant associated with a distinctive neurodevelopmental phenotype.

Human genome variation
2026

Corrigendum 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 disease
2026

Spatial subdomains in the Optic Tectum for the encoding of visual information.

The Journal of neuroscience : the official journal of the Society for Neuroscience
2026

Facility-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 research
2026

Black carbon is detectable in association with small extracellular vesicles in fetal circulation.

Environment international
2026

Acceptability 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 open
2026

Functional maturation of thalamic reticular nucleus during early postnatal development.

Neuroscience
2026

Pluripotent stem-cell-based screening uncovers sildenafil as a mitochondrial disease therapy.

Cell
2026

Qualitative insights into the experiences of French parents of children with developmental coordination disorder (DCD): Child-related challenges and family implications.

Acta psychologica
2026

Biallelic RNU2-2-related neurodevelopmental disorder presenting as Lennox-Gastaut syndrome.

Acta neurologica Belgica
2026

Autism Screening Using Parent's Observations of Social Interactions (POSI) in High-Risk Infants.

Journal of autism and developmental disorders
2026

Case report of three siblings with nudix hydrolase 2-related neurodevelopmental disorder.

Clinical dysmorphology
2026

Genetic and environmental influences on sleep quality, ability to settle, and crying duration in 2- and 5-month-old infants: A longitudinal twin study.

JCPP advances
2026

Evaluating the efficacy of psychological therapies for generalised anxiety disorder in children and adolescents: A systematic review and narrative synthesis.

JCPP advances
2025

Fetal and Perinatal Brain MRI Findings in Adaptor Protein Complex 4-Associated Hereditary Spastic Paraplegia.

Annals of the Child Neurology Society
2026

Neurod2 knockdown in Xenopus laevis tadpole brain retains cells in a proliferating, progenitor-like state.

microPublication biology
2026

The Role of NLRP3 Inflammasomes in Neurological Disorders: Mechanistic Understanding and Phytochemical-Based Therapeutics.

Phytotherapy research : PTR
2026

Mental Health Admissions in Child and Adolescents Over Pandemic Period: A Health Records Study.

Psychiatry investigation
2026

[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
2025

[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 medica
2026

Mind the Gap! Sleep Problems in Children With ADHD-A Qualitative Analysis of Clinician Training Needs.

Child: care, health and development
2026

Video Modelling Intervention for Enhancing Social-Communication Skills of Children With Intellectual Disability.

Journal of applied research in intellectual disabilities : JARID
2026

Abdominal Massage for Adults With an Intellectual Disability and Constipation: A Feasibility Pilot Study.

Journal of applied research in intellectual disabilities : JARID
2026

Unaltered empathy-related behaviors in Williams-Beuren syndrome mouse models.

Molecular brain
2026

Neuropsychological 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 pediatrics
2026

Genetic pathways linking oxytocin-vasotocin hypothalamic subunit architecture with psychiatric and metabolic traits.

Molecular psychiatry
2026

Multidimensional profiling of heterogeneity in supratentorial ependymomas.

Nature
2026

Prenatal antiseizure drug exposure and risk of neurodevelopmental disorders in children: population based cohort study.

BMJ (Clinical research ed.)
2026

Machine learning approaches to identifying neurodevelopmental disorders using social media data: a systematic review.

International journal of medical informatics
2026

Anterior cingulate folding pattern is altered in autism spectrum disorder.

Cerebral cortex (New York, N.Y. : 1991)
2026

[Outpatient anesthesia for children with autism spectrum disorder].

Revue medicale suisse
2026

Personalized 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 America
2026

Expanding the phenotypic and immunological landscape of Alazami syndrome: Evidence from seven new patients with LARP7 gene variants.

European journal of pediatrics
2026

Para-Benzoquinone (pBQ) Modifies Human Mitochondrial Phenylalanyl-tRNA Synthetase and Contributes to Mitochondrial Dysfunction.

Chemical research in toxicology
2026

Sociability, drinking motives, and alcohol use problems among young adults with and without childhood attention-deficit/hyperactivity disorder.

Alcohol, clinical &amp; experimental research
2025

[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 genetics
2026

Characterizing a Unique Retinal Phenotype in INTS11-Associated Neurodevelopmental Disorder.

Investigative ophthalmology &amp; visual science
2026

A Case of HNRNPU-Related Neurodevelopmental Disorder Presenting With Acute Encephalopathy and Basal Ganglia Lesions.

Congenital anomalies
2026

Maternal adverse childhood experiences and prenatal stress: Intergenerational transmission and offspring mental health in the ECHO Cohort.

Psychological medicine
2026

VarCoNet: A Variability-Aware Self-Supervised Framework for Functional Connectome Extraction From Resting-State fMRI.

Human brain mapping
2026

Motor skills influence social function through health-related fitness in children with autism: a cross-sectional study.

Frontiers in public health
2026

A novel heterozygous pathogenic variation in the MECP2 gene causing typical Rett syndrome: a case report.

Translational pediatrics

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Doenças relacionadas

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Ordenadas pelo número de sintomas em comum.

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.

  1. Discontinuation and reinitiation of pharmacological treatment for ADHD among individuals with ADHD and substance use disorder.
    BMJ mental health· 2026· PMID 41871884mais citado
  2. The insertion of an ATTTC repeat in an Alu element hyperactivates a neurodevelopmental enhancer in spinocerebellar ataxia type 37.
    Cell reports· 2026· PMID 41871099mais citado
  3. Impact of pediatric gastrointestinal disorders on learning and cognitive development in schoolchildren.
    Annals of gastroenterology· 2026· PMID 41868884mais citado
  4. The relationship between the gut microbiota and neuropsychological development and behaviour during childhood and adolescence: a systematic review of epidemiological studies.
    Brain, behavior, &amp; immunity - health· 2026· PMID 41868611mais citado
  5. Prodromal behavioral markers and developmental trajectories of autism spectrum disorder in infancy: a narrative review.
    Frontiers in pediatrics· 2026· PMID 41867920mais citado
  6. 'Team Speech Sounds'-How Speech and Language Therapists Work With Parents of Young Children With Speech Sound Disorder: A Focus Group Study.
    Int J Lang Commun Disord· 2026· PMID 41870034recente
  7. Teaching children with autism to challenge lies while playing board games.
    J Appl Behav Anal· 2026· PMID 41867041recente
  8. Revisiting Home Environment in the Digital Age: Empirical Comparison of FCI Subscales With Screen Use in Rural China.
    Child Care Health Dev· 2026· PMID 41866786recente
  9. Policy Levers to Support the Transition From Pediatric to Adult Dental Care for People With Intellectual and Developmental Disabilities.
    J Public Health Dent· 2026· PMID 41866747recente
  10. Reporting a Novel Disease Causing Variant in PGAP3 Associated With Hyperphosphatasia and Intellectual Disability: A Case Report and Comprehensive Literature Review.
    Mol Genet Genomic Med· 2026· PMID 41866703recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:521426(Orphanet)
  2. OMIM OMIM:617527(OMIM)
  3. MONDO:0060502(MONDO)
  4. GARD:17960(GARD (NIH))
  5. 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

Compêndio · Raras BR

Perturbação do neurodesenvolvimento PLAA-associada

ORPHA:521426 · MONDO:0060502
Prevalência
<1 / 1 000 000
Casos
15 casos conhecidos
Herança
Autosomal recessive
CID-10
Q87.8 · Outras síndromes com malformações congênitas especificadas, não classificadas em outra parte
Início
Infancy, Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C4479631
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