Raras
Buscar doenças, sintomas, genes...
Síndrome de espectro clínico de autismo-epilepsia-artrogripose
ORPHA:370943CID-10 · Q87.8CID-11 · 5C54.0OMIM 615553PCDT · SUSDOENÇA RARA

SLC35A3-CDG é uma forma de distúrbios congênitos de glicosilação ligada a N caracterizada por artrogripose distal (contraturas leves em flexão dos dedos, desvio das falanges distais, deformidade em pescoço de cisne), retromicrognatia, hipotonia muscular geral, atraso no desenvolvimento psicomotor, transtorno do espectro do autismo (atraso na fala, uso anormal da fala, dificuldades em iniciar, compreender e manter a interação social, comunicação não verbal limitada e comportamento repetitivo), convulsões, microcefalia e deficiência intelectual leve a moderada que se torna aparente com a idade. A doença é causada por mutações no gene SLC35A3 (1p21).

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

SLC35A3-CDG é uma forma de distúrbios congênitos de glicosilação ligada a N caracterizada por artrogripose distal (contraturas leves em flexão dos dedos, desvio das falanges distais, deformidade em pescoço de cisne), retromicrognatia, hipotonia muscular geral, atraso no desenvolvimento psicomotor, transtorno do espectro do autismo (atraso na fala, uso anormal da fala, dificuldades em iniciar, compreender e manter a interação social, comunicação não verbal limitada e comportamento repetitivo), convulsões, microcefalia e deficiência intelectual leve a moderada que se torna aparente com a idade. A doença é causada por mutações no gene SLC35A3 (1p21).

Publicações científicas
3 artigos
Último publicado: 2020 Nov

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
8
pacientes catalogados
Início
Infancy
+ neonatal
🏥
SUS: Cobertura parcialScore: 65%
PCDT disponívelCentros em: PA, PE, CE, DF, SP +5CID-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
11 sintomas
🦴
Ossos e articulações
6 sintomas
😀
Face
1 sintomas

+ 5 sintomas em outras categorias

Características mais comuns

100%prev.
Luxação do quadril
Ocasional (29-5%)
100%prev.
Comportamento autista
Frequência: 8/8
100%prev.
Luxação do joelho
Frequente (79-30%)
100%prev.
Camptodactilia do dedo
Frequência: 8/8
100%prev.
Displasia acetabular
Frequência: 8/8
100%prev.
HP:0003577
Frequência: 8/8
23sintomas
Muito frequente (7)
Frequente (3)
Ocasional (6)
Sem dados (7)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 23 características clínicas mais associadas, ordenadas por frequência.

Luxação do quadrilHip dislocation
Ocasional (29-5%)100%
Comportamento autistaAutistic behavior
Frequência: 8/8100%
Luxação do joelhoKnee dislocation
Frequente (79-30%)100%
Camptodactilia do dedoCamptodactyly of finger
Frequência: 8/8100%
Displasia acetabularAcetabular dysplasia
Frequência: 8/8100%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico3PubMed
Últimos 10 anos200publicações
Pico2026122 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.

SLC35A3UDP-N-acetylglucosamine transporterDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Transports diphosphate-N-acetylglucosamine (UDP-GlcNAc) from the cytosol into the lumen of the Golgi apparatus, functioning as an antiporter that exchanges UDP-N-acetyl-alpha-D-glucosamine for UMP (PubMed:10393322). May supply UDP-GlcNAc as substrate for Golgi-resident glycosyltransferases that generate highly branched, multiantennary complex N-glycans and keratan sulfate (PubMed:23766508, PubMed:34981577). However, the exact role of SLC35A3 still needs to be elucidated, it could be a member of

LOCALIZAÇÃO

Golgi apparatus membrane

VIAS BIOLÓGICAS (1)
Transport of nucleotide sugars
MECANISMO DE DOENÇA

Arthrogryposis, impaired intellectual development, and seizures

A disease characterized by arthrogryposis, intellectual disability, autism spectrum disorder, and epilepsy. Additional features include limb malformations, distal joint involvement, microcephaly, retromicrognathia, and general muscle hypotonia.

EXPRESSÃO TECIDUAL(Ubíquo)
Cólon transverso
9.7 TPM
Glândula salivar
8.7 TPM
Intestino delgado
8.6 TPM
Tireoide
7.4 TPM
Vagina
7.3 TPM
OUTRAS DOENÇAS (1)
autism spectrum disorder - epilepsy - arthrogryposis syndrome
HGNC:11023UniProt:Q9Y2D2

Variantes genéticas (ClinVar)

60 variantes patogênicas registradas no ClinVar.

🧬 SLC35A3: NM_012243.3(SLC35A3):c.770del (p.Val257fs) ()
🧬 SLC35A3: GRCh37/hg19 1p22.1-21.1(chr1:93930297-102220573)x1 ()
🧬 SLC35A3: NM_012243.3(SLC35A3):c.887+1G>A ()
🧬 SLC35A3: NM_012243.3(SLC35A3):c.586dup (p.Ile196fs) ()
🧬 SLC35A3: NM_012243.3(SLC35A3):c.16_20del (p.Lys6fs) ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 293 variantes classificadas pelo ClinVar.

15
278
Patogênica (5.1%)
VUS (94.9%)
VARIANTES MAIS SIGNIFICATIVAS
SLC35A3: NM_012243.3(SLC35A3):c.770del (p.Val257fs) [Pathogenic]
SLC35A3: NM_012243.3(SLC35A3):c.735G>T (p.Trp245Cys) [Uncertain significance]
SLC35A3: NM_012243.3(SLC35A3):c.207G>C (p.Leu69=) [Uncertain significance]
SLC35A3: NM_012243.3(SLC35A3):c.671A>G (p.Tyr224Cys) [Uncertain significance]
SLC35A3: NM_012243.3(SLC35A3):c.769G>T (p.Val257Leu) [Uncertain significance]

Vias biológicas (Reactome)

2 vias biológicas associadas aos genes desta condição.

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 — Síndrome de espectro clínico de autismo-epilepsia-artrogripose

Centros de Referência SUS

13 centros habilitados pelo SUS para Síndrome de espectro clínico de autismo-epilepsia-artrogripose

Centros para Síndrome de espectro clínico de autismo-epilepsia-artrogripose

Detalhes dos centros

Hospital Infantil Albert Sabin

R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876

Serviço de Referência

Rota
Anomalias CongênitasDeficiência Intelectual

Hospital de Apoio de Brasília (HAB)

AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)

Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital das Clínicas da UFMG

Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário João de Barros Barreto

R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)

R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Pequeno Príncipe

R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805

Serviço de Referência

Rota
Anomalias CongênitasDeficiência Intelectual

Hospital de Clínicas da UFPR

R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)

Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Clínicas de Porto Alegre (HCPA)

Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital das Clínicas da FMUSP

R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Clínicas da UNICAMP

R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Clínicas de Ribeirão Preto (HCRP-USP)

R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual
Sobre os centros SUS: Estes centros são habilitados pelo Ministério da Saúde como Serviços de Referência em Doenças Raras ou Serviços de Atenção Especializada. O atendimento é pelo SUS, com encaminhamento da rede de atenção básica.

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.

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Publicações mais relevantes

Timeline de publicações
3 papers (10 anos)
#1

The quality of life of parents of children with disabilities in Saudi Arabia: a systematic review.

Frontiers in pediatrics2026

The quality of life (QoL) of parents and caregivers of children with disabilities in Saudi Arabia is examined in this systematic review. Fourteen cross-sectional studies published between 2020 and 2024 are included, encompassing 1,841 caregivers, of whom 60.2% are mothers, 23.1% fathers, and 18.4% other caregivers, caring for 1,460 children with disabilities. QoL is primarily assessed using the WHOQOL-BREF in 10 studies, followed by the SF-36 in two studies and the Beach Center Family Quality of Life Scale in one study. Autism spectrum disorder (ASD), attention-deficit/hyperactivity disorder (ADHD), cerebral palsy (CP), and Down syndrome (DS) are the most commonly reported conditions. Negative QoL outcomes are reported in at least one domain in 9 of the 10 WHOQOL-BREF studies. The physical domain is most frequently affected (50% of studies), followed by the social and environmental domains (40% each) and the psychological domain (30%). More than half of caregivers (53.6%) are reported to be unemployed, and poorer QoL is consistently associated with unemployment, lower income, limited education, and restricted access to support services. Lower QoL is most frequently reported by mothers and by caregivers of children with severe or multiple disabilities, highlighting the need for targeted support interventions.

#2

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

Clinical genetics2026 Mar 20

Biallelic loss-of-function variants in FBXO31 cause autosomal-recessive intellectual disability. A recurrent de novo variant, c.1000G>A(p.Asp334Asn), has been described in association with an autosomal-dominant phenotype. To refine this phenotype and its clinical implications, we re-evaluated three published cases and ascertained four additional probands via advocacy networks, GeneMatcher, and clinician referral. Phenotyping included neurologic, behavioral, and dysmorphology assessment. All seven individuals carried the recurrent de novo FBXO31 p.Asp334Asn variant. A core neurodevelopmental profile was observed and included cerebral palsy (mixed hypotonia, spasticity, and dystonia), global developmental delay/intellectual disability, and speech impairment. Neuropsychiatric features were sometimes prominent and included attention-deficit/hyperactivity disorder, anxiety, stereotypies, autistic features, and behavioral dysregulation. Neuroimaging often showed a hypoplastic corpus callosum and posterior-predominant white-matter changes. In one individual, gray matter heterotopias were also observed. A subtle but consistent facial gestalt was noted. Recurrent FBXO31 p.Asp334Asn variants lead to a recognizable neurodevelopmental syndrome. Based on our findings, we recommend including FBXO31 in diagnostic algorithms for cerebral palsy and neurodevelopmental disorders. We propose the descriptive term "autosomal dominant FBXO31-associated neurodevelopmental disorder," and-consistent with the validating laboratory and with support from the FBXO31 Foundation-propose the eponym "Kruer syndrome."

#3

The efficacy and safety of cannabinoids for the treatment of mental disorders and substance use disorders: a systematic review and meta-analysis.

The lancet. Psychiatry2026 Apr

Mental disorders and substance use disorders (SUDs) are among the leading reasons for which the medical use of cannabinoids has been approved, but their efficacy and safety in treating these conditions is yet to be established. We conducted a systematic review and meta-analysis of randomised controlled trials (RCTs) testing the efficacy and safety of cannabinoids as the primary treatment for mental disorders or SUDs. We searched Ovid MEDLINE, PsychINFO, Cochrane Central Register of Controlled Clinical Trials, Cochrane Database of Systematic Reviews, and Embase for peer-reviewed articles published between Jan 1, 1980, and May 13, 2025, evaluating the efficacy of cannabinoids in reducing or treating mental disorders and SUDs as the primary indication. Primary outcomes were remission of disorder or reduction in disorder symptoms. Safety was assessed via synthesis of all-cause and serious adverse events, which was used to calculate the number needed to treat to harm (NNTH). Two independent reviewers screened all studies and performed data extraction. Evidence was synthesised as odds ratios (ORs) for dichotomous measures and standardised mean differences (SMDs) for continuous measures, via random-effects meta-analysis in Review Manager, version 5.4. Risk of bias was assessed using the Cochrane Collaboration Risk of Bias 2.0 tool. We evaluated the quality of the primary outcomes using the GRADE framework. The study was registered with PROSPERO (CRD42023392718). 54 trials were identified for inclusion (2477 participants; 1713 [69%] males, 764 [31%] females; median age 33·3 years [IQR 28·1-38·05; ethnicity data not available). 24 (44%) of these trials had a high risk of bias, and the certainty of evidence for most outcomes was low. Our meta-analysis revealed that a combination of cannabidiol and delta-9-tetrahydrocannabinol reduced cannabis withdrawal symptoms (SMD -0·29, 95% CI -0·57 to -0·02) and weekly grams of cannabis use (-1·00, -1·69 to -0·30) among those with cannabis use disorder, and a reduction in tic severity among those with tic or Tourette's Syndrome (-0·68, -1·03 to -0·34) compared with placebo. Any cannabinoid type led to an increase in sleep time as recorded by an electronic device (0·54, 0·14 to 0·95) and sleep diary (0·55, 0·01 to 1·09) among those with insomnia. There was a reduction in autistic traits (-0·36, -0·66 to -0·07) among those with autism spectrum disorder. Cannabinoids led to an increase in cocaine craving among those with cocaine use disorder (0·69, 0·22 to 1·15) compared with placebo. There were no significant effects on outcomes associated with anxiety, anorexia nervosa, psychotic disorders, post-traumatic stress disorder, and opioid use disorder. There were insufficient data to meta-analyse studies of ADHD, bipolar disorder, obsessive-compulsive disorder, and tobacco use disorder. There was an absence of RCT evidence for the treatment of depression. Meta-analysis revealed higher odds of all-cause adverse events (OR 1·75, 95% CI 1·25 to 2·46) among those using cannabis versus control group (NNTH=7) but no higher odds of serious adverse events or study withdrawal. There was some evidence that cannabinoids can reduce symptoms of cannabis use disorder, insomnia, tic or Tourette's syndrome, and autism spectrum disorder, but the quality of this evidence was generally low. Cannabinoids were associated with a greater risk of any adverse events but not of serious adverse events. Overall, there is a crucial need for more high-quality research. Given the scarcity of evidence, the routine use of cannabinoids for the treatment of mental disorders and SUDs is currently rarely justified. The National Health and Medical Research Council.

#4

Epilepsy in pediatric patients with PTEN hamartoma tumor syndrome: First step in recommendations for clinical management.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society2026 Mar 09

PTEN Hamartoma Tumor Syndrome (PHTS) is an autosomal dominant syndrome caused by a mutation in the PTEN gene. Previous studies have suggested an association between PHTS and epilepsy, but the clinical characteristics of epilepsy in PHTS remain unknown. This study aims to expand knowledge of epilepsy in PHTS and provide insights into its clinical features. A retrospective observational study was conducted at the Radboud University Medical Center, including 149 patients with clinically or genetically confirmed PHTS. Electronic patient records were reviewed for baseline characteristics, epileptic features, therapeutic interventions, and neuroimaging results. A cumulative risk analysis for developing epilepsy was performed. The prevalence of epilepsy among PHTS patients in this cohort was found to be 6%, with an estimated PHTS prevalence of 1:20 000 in the Netherlands. Autism spectrum disorder (ASD) was significantly associated with an increased risk of developing epilepsy (p = 0.002). A range of seizure semiologies was observed, with focal epilepsy being the most common, presenting as focal seizures with impaired awareness. EEG results predominantly showed (multi)focal discharges with variable localization. MRI abnormalities did not correlate with epileptic foci on EEG. This study highlights the clinical characteristics of epilepsy in pediatric patients with PHTS. Follow-up should include monitoring for characteristics of focal epilepsy, with EEG utilized selectively when such episodes are observed, rather than as a routine screening measure. Treatment strategies should be individualized based on the patient's characteristics. In cases of epilepsy, MRI is recommended to identify potential structural malformations amenable to surgical intervention.

#5

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

Genes, brain, and behavior2026 Apr

Autism spectrum disorder (ASD) is characterized by social impairments and stereotyped behavior, with some individuals exhibiting heightened aggression in response to stress. This stress induced aggression (SIA) can severely impact quality of life, yet its underlying neural mechanisms remain poorly understood. Here, we investigated the behavioral phenotypes and neural activity that result as a consequence of stress in Cntnap2-/-:TRAP2+/-:Ai14+/- mice. Deletion of the CNTNAP2 gene leads to a highly penetrant syndromic form of ASD, and the targeted recombination in active populations (TRAP) system allows for permanent access to neuronal populations activated during a specific experience, such as stress and aggression. We implemented a behavioral paradigm consisting of a baseline resident intruder assay, with either a single day or four consecutive days of restraint stress, followed by a posttest resident intruder assay in Cntnap2-/-:TRAP2+/-:Ai14+/- and control mice. While a single day of restraint stress failed to induce changes in aggressive behavior in either genotype, 4 days of restraint stress significantly escalated aggression and reduced latency to attack selectively in Cntnap2-/- mice. Using TRAP-based labeling, we observed increased neuronal activity in the lateral septum, lateral habenula, lateral hypothalamus, nucleus accumbens, and prelimbic cortex of Cntnap2-/- mice. Interestingly, time aggressive and aggressive events were positively correlated with activity in the lateral septum, lateral habenula, and infralimbic cortex. These findings suggest that repeated stress engages specific fronto-striatal and limbic regions in Cntnap2-/- mice and provide insight into the neural substrates of maladaptive SIA, offering a foundation for targeted therapeutic strategies.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 197

2026

SHANK3 and beta-synuclein are novel blood-based biomarkers for the Phelan-McDermid Syndrome: a pilot study.

Translational psychiatry
2026

The selective 5-HT1A receptor biased agonist, NLX-101, corrects anomalous behavioral phenotype in a mouse model of fragile X syndrome.

Progress in neuro-psychopharmacology &amp; biological psychiatry
2026

The quality of life of parents of children with disabilities in Saudi Arabia: a systematic review.

Frontiers in pediatrics
2026

Patient- and Family-Centered Care for the Emergency Admission of a Child with Autism Spectrum Disorder.

Juntendo medical journal
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 R203W substitution drives PACS-1 syndrome by disrupting intramolecular regulation.

The FEBS journal
2026

The efficacy and safety of cannabinoids for the treatment of mental disorders and substance use disorders: a systematic review and meta-analysis.

The lancet. Psychiatry
2026

Contribution of astrocytic calcium signaling to auditory hypersensitivity in a mouse model of fragile X syndrome.

Neurobiology of disease
2026

The disproportionate burden of severe obesity in youth with special needs and the role of metabolic and bariatric surgery.

Seminars in pediatric surgery
2026

Serving Differently: Pioneering the Inclusion of Autism in the Greek Military.

Cureus
2026

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents.

American journal of medical genetics. Part C, Seminars in medical genetics
2026

Epilepsy in pediatric patients with PTEN hamartoma tumor syndrome: First step in recommendations for clinical management.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
2026

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

Genes, brain, and behavior
2026

The Management of Evolving Neuropsychiatric Symptoms in a Female with Fragile X Syndrome: A Case Report.

Psychopharmacology bulletin
2026

Tuberous sclerosis complex.

Nature reviews. Disease primers
2026

Validation of the sibling acceptance questionnaire among typically-developing emerging adult siblings of individuals with disabilities.

Frontiers in psychology
2026

Generation of hiPSCs lines from PRICKLE2-mutant individuals with epilepsy.

Stem cell research
2026

Electroconvulsive Therapy in a Patient With Down Syndrome Regression Disorder and Inspire Device: A Case Report.

The journal of ECT
2026

Autism Spectrum Disorder in a Child with Floating-Harbor Syndrome: A Case Report.

Noro psikiyatri arsivi
2026

[Identifying common neural circuit dysfunctions across psychiatric disorders through neurophysiological indices].

Nihon yakurigaku zasshi. Folia pharmacologica Japonica
2026

Transcriptome analysis of patients with loss-of-function POGZ variants in four unrelated Chinese families.

Gene
2026

Maternal Child-Directed Speech Toward Children With Infantile Spasm or West Syndrome.

International journal of language &amp; communication disorders
2026

Xp22.33 Duplication Encompassing PAR1 in a Male with Syndromic Neurodevelopmental Disorder and Tall Stature.

Genes
2026

Behavioral Features in Phelan-McDermid Syndrome: Characteristics and Genetic and Metabolic Contributions in a Cohort of 56 Individuals.

Genes
2026

Genomics of Complex Neurodevelopmental Disorders with Variable Epilepsy Phenotypes: A Clinical Review of Dup15q Syndrome.

Genes
2026

Adaptive and Behavioral Phenotype in Pediatric 22q11.2 Deletion Syndrome: Characterizing a High-Risk Neurogenetic Copy Number Variant.

Genes
2026

Neuropsychiatric Phenotype and Treatment Challenges in 47,XYY Syndrome: A Narrative Review with a Case Series of Adolescents.

Brain sciences
2026

Novel therapeutics in autism spectrum disorder.

Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics
2026

Steroid Sulfatase Deficiency: Clinical Manifestations and Psychological Aspects in Light of Current Evidence.

Clinical, cosmetic and investigational dermatology
2026

Patient-derived brain organoids reveal divergent neuronal activity across subpopulations of autism spectrum disorder.

Translational psychiatry
2026

Health experiences and outcomes of autistic and non-autistic adults with hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorder.

BMC medicine
2026

Genetic and Clinical Characteristics of Chromosome 15q11-q13 Duplication Syndrome in Chinese Children.

American journal of medical genetics. Part A
2026

Erythropoietin alleviates syndrome-associated intellectual disability and autism-like behavior in Zbtb20-haploinsufficient Primrose syndrome mouse model.

JCI insight
2026

Allele-specific alternative polyadenylation links noncoding genetic variation to Alzheimer's disease risk.

bioRxiv : the preprint server for biology
2026

De novo mutation in the ARHGAP32 gene endorses the implication of GTPase-activating proteins (RhoGAP family) in idiopathic autism spectrum disorder.

Frontiers in psychiatry
2026

Genetic Risk Factors for Epilepsy: From Familial Studies to Gene Discoveries and Polygenic Risk Scores, Strides Toward Unlocking an Age-Old Question in Epilepsy.

Epilepsy currents
2026

Global trends and future perspectives in autism spectrum disorder and gut microbiota research: a comprehensive bibliometric analysis.

Frontiers in neuroscience
2026

Altered Brain Structure in an ATRX-Deficient Mouse Model of Autism Spectrum Disorder.

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

Extracellular vesicles from stem cells rescue cellular phenotypes and behavioral deficits in SHANK3-associated ASD neuronal and mouse models.

Cell death &amp; disease
2026

Macrocephaly and Characteristic MRI Findings as Early Clues to a Hereditary Overgrowth Syndrome.

Cureus
2026

Analyzing the genetic profile of autistic children and adolescents with minimal verbal abilities.

Frontiers in genetics
2026

Improved quality of life with semaglutide in schizophrenia: Secondary analyses from a randomized controlled trial.

Schizophrenia research
2026

First Report of a Child With a DeSanto-Shinawi Syndrome and a Polymorphous Low-Grade Neuroepithelial Tumor of the Young.

American journal of medical genetics. Part A
2026

Valproic Acid-Induced Pancreatitis in a Pediatric Patient With 17q12 Duplication Syndrome.

Cureus
2026

Rapunzel syndrome: Trichobezoar-induced pancreatitis unraveled.

JPGN reports
2026

Convergence and divergence of molecular phenotypes in iPSC-derived models of 16p11.2 and 22q11.2 reciprocal copy number variants.

Current opinion in genetics &amp; development
2026

Does First-Line Treatment Impact Outcomes in Trisomy 21-Associated Infantile Epileptic Spasms Syndrome? A Multicenter North American Analysis.

Pediatric neurology
2026

The Experience of Depression, Self-Efficacy, and Family Functioning Among Mothers of Children with Autism Spectrum Disorder: A Mixed Methods Study [Formula: see text].

Journal of the American Psychiatric Nurses Association
2026

Psilocybin improves novel object recognition in a rat model of Fragile X Syndrome through the modulation of the BDNF/TrkB signaling pathway.

Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology
2026

Bend the fingers: Ehlers Danlos syndrome and the associated disorders that impact treatment of chronic musculoskeletal pain.

Journal of back and musculoskeletal rehabilitation
2026

Longitudinal Behavior Phenotype Hallmarks in RNU4-2 Syndrome: Implications for Clinical Management.

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics
2026

The impact of expanding the PACE clinic: Closing the gap by including complex presentations in youth mental health.

Asian journal of psychiatry
2026

BDNF- Dysregulation as a Neurobiological Bridge between Polycystic Ovarian Syndrome and Autism Spectrum Disorder.

ACS chemical neuroscience
2026

Developmental dysregulation of chandelier cell excitability in a mouse model of Dravet Syndrome.

bioRxiv : the preprint server for biology
2026

Allele-specific rescue of neurexin behavioral phenotypes by monoamine-targeting compounds.

bioRxiv : the preprint server for biology
2026

Leucettinib-21 decreases dosage effects of DYRK1A in human trisomy 21 iPSC-derived neural cells.

bioRxiv : the preprint server for biology
2026

Unravelling Narcolepsy: A Series of Complex Pediatric Cases.

Neurology. Clinical practice
2026

Functional Tic-Like Behaviors in Youth With Gender Dysphoria: A Case Series.

Pediatric neurology
2026

Atypical Antipsychotics and Metabolic Dysfunction-Associated Steatotic Liver Disease in Children and Adolescents: A Systematic Review.

International journal of psychiatry in medicine
2026

Ultrarare Variants in DNA Damage Repair and Mitochondrial Genes in Pediatric Acute-Onset Neuropsychiatric Syndrome and Acute Behavioral Regression in Neurodevelopmental Disorders.

Developmental neuroscience
2026

Mortality Among Youth and Young Adults With Autism Spectrum Disorder, Intellectual Disability, or Cerebral Palsy.

JAMA pediatrics
2025

Genetic regulators of neuronal survival across metabolic environments.

bioRxiv : the preprint server for biology
2025

Oral hygiene and caries experience in children with down syndrome and autism spectrum disorder: a systematic review and meta-analysis.

Frontiers in dental medicine
2026

Exploring the pathogenicity and genotype-phenotype correlation of 16p13.11 microduplication: a report of two cases.

Translational pediatrics
2026

Behavioral Phenotype Associations With Resting State EEG Signal Complexity and Power Spectral Density in Fragile X Syndrome.

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

Hippocampal glial alterations are associated with Lamin B1 dysregulation and abnormal nuclear morphology in a rat model of fragile X syndrome.

Neurobiology of disease
2026

A Novel PTEN Frameshift Variant in a Child With Autism Spectrum Disorder and Macrocephaly: A Case Report.

Cureus
2026

Sex differences in self-reported symptoms and comorbidities associated with hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders: A retrospective study.

Research square
2026

Maternal pregnancy complications and offspring autism spectrum disorder risk: an umbrella review.

Psychiatry research
2026

Transcranial Photobiomodulation for Neuromodulation of Brain Disorders: A Perspective.

Neuromodulation : journal of the International Neuromodulation Society
2025

Parental perceptions and attitudes towards the inclusion of children with neurodevelopmental, physical and sensory disabilities.

Frontiers in psychiatry
2026

Persistence of autistic symptom differences by severity among individuals at clinical high risk for psychosis and with first-episode psychosis: An 18-month longitudinal follow-up study.

Journal of psychiatric research
2026

Brain aging in neurodevelopmental disorders: a narrative review of oxidative, inflammatory, and mitochondrial mechanisms.

Neurodegenerative disease management
2026

Beneath the tip of the iceberg: treatment of neuropsychiatric comorbidities in tic disorders.

Handbook of clinical neurology
2026

Tics in autism spectrum and in intellectual disability.

Handbook of clinical neurology
2026

FOXG1 Hierarchically Shapes Synaptic Functions in Striatal iSPNs and Contributes to ASD Etiology.

Neuroscience bulletin
2026

[Clinical phenotypes and genetic analysis of five children with Lamb-Shaffer syndrome due to novel variants of SOX5 gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2025

Quality of life and disease burden in tuberous sclerosis and comparison with the population with idiopathic autism spectrum disorder: an investigation conducted through questionnaires and clinical data collection in the pediatric population.

Frontiers in psychiatry
2026

Post-marketing safety concerns with trofinetide: a disproportionality analysis of the first therapeutic agent for Rett syndrome based on the FDA adverse event reporting system (FAERS).

Frontiers in pharmacology
2025

Rethinking ADHD as a neurointestinal syndrome: a gut-brain-parasite hypothesis.

Frontiers in neuroscience
2026

Perinatal hyperandrogenization and immune activation in rodents model subtypes of autism.

Translational psychiatry
2026

The systemic effects of 22q11.2 deletion syndrome on immunity.

Journal of human immunity
2026

Serum and cerebral folate are normal in Down Syndrome Regression Disorder.

Molecular autism
2026

De novo heterozygous variants of the RSF1 gene are responsible for a syndromic neurodevelopmental disorder.

European journal of human genetics : EJHG
2026

Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic GABRB2 and GABRB3 variants.

Epilepsia
2025

Exploring behavioral dynamics: an in-depth analysis of adult students with disabilities.

Frontiers in rehabilitation sciences
2026

Computational Identification of Blood-Brain Barrier-Permeant Microbiome Metabolites with Binding Affinity to Neurotransmitter Receptors in Neurodevelopmental Disorders.

Molecules (Basel, Switzerland)
2025

Shared Disease Mechanisms in Neurodevelopmental Disorders: A Cellular and Molecular Biology Perspective.

Brain sciences
2025

A Systematic Review Illustrates the Expanding Clinical and Molecular Landscape of Helsmoortel-Van der Aa Syndrome.

Brain sciences
2026

Genome-wide investigation highlights global and local pleiotropy linking neurodevelopmental disorders to acquired hearing problems.

Psychological medicine
2025

Rodent models of genetic epilepsy and its association with neurocognitive impairment- a systematic review.

Frontiers in pharmacology
2025

New Insights into the Relation between Cognition, Behavior, and the CHD5 Gene: A Case-Report of an Adult Male with Parenti-Mignot Neurodevelopmental Syndrome.

Molecular syndromology
2026

Catatonia-Related Clinical Challenges in Neurological and Neurodevelopmental Conditions.

The Journal of neuropsychiatry and clinical neurosciences
2026

Clinical and Molecular Characterization of Five Additional Individuals With SATB2-Associated Syndrome in Guangxi.

Biochemical genetics
2026

Neurocognitive and behavioral outcomes in metopic synostosis: relation to severity and surgical timing.

Plastic and reconstructive surgery
2026

The spectrum of neurodevelopmental disorders: comorbidities as clues to pathogenesis.

Current opinion in psychiatry
2026

Olfactory Deficits in Fragile X Syndrome.

The European journal of neuroscience
2026

Knowledge, support, and networking for Phelan-McDermid syndrome: a study protocol.

MethodsX
2026

Social Communication Difficulties in Children with Autism Spectrum Disorder (ASD Level 1): The Mediating Role of Cognitive Disengagement Syndrome.

Journal of autism and developmental disorders
2025

Autism Observation Scale for Infants: Systematic Review and Meta-Analysis in Samples at Increased Likelihood of Autism Spectrum Disorders.

Review journal of autism and developmental disorders
2026

Clinical and Genetic Analysis of SMARCC2-Related Diseases in Three Chinese Patients.

Molecular genetics &amp; genomic medicine
2026

The Intersections of Fetal Alcohol Syndrome with Autism Spectrum Disorder and Mood Dysregulation: A Rare Case of Behavioral Complexity.

Psychopharmacology bulletin
2025

The fading self in space-disruption of default spatial representation across neurological disorders.

Frontiers in systems neuroscience
2025

Risperidone-Induced Paradoxical Agitation in a Child With Lamb-Shaffer Syndrome, Autism Spectrum Disorder, and Attention Deficit Hyperactivity Disorder: A Case Report.

Cureus
2026

Familial Presentation of a Rare NCKAP1 Splice-Site Variant Associated With a Neurodevelopmental Disorder and Cutaneous Manifestations.

American journal of medical genetics. Part A
2025

Neurodegeneration Within the Spectrum of Pervasive Developmental Disorders.

Cureus
2026

Diagnostic challenges in Landau-Kleffner syndrome.

BMJ case reports
2026

Screening of CGG Trinucleotide Repeats Within FMR1 Gene in Bangladeshi Children With Autism Spectrum Disorder: Exploring a Possible Link With Fragile X Syndrome.

Journal of the Korean Academy of Child and Adolescent Psychiatry
2026

Acute Pisa syndrome in a 4-year-old child with autism spectrum disorder: The youngest reported case of risperidone-induced extrapyramidal reaction.

Asian journal of psychiatry
2026

Clinical correlates of individuals with and without misophonia in the U.S.: Results from a population-based study.

Psychiatry research
2026

The First Reported Case of an Inherited Pathogenic Variant in DEAF1 From a Parent With Milder Phenotype Provides Evidence of Variable Gene Expressivity of the DEAF1-Associated Vulto-van Silfout-de Vries Syndrome (VSVS).

American journal of medical genetics. Part A
2026

What Does the PANSS Autism Severity Score (PAUSS) Really Measure in Patients With First Episode Psychosis? Critical Considerations.

Journal of autism and developmental disorders
2026

Altered Structural Plasticity Mediated by mGlu and NMDA Receptors and Impaired Cognition in a Genetic ASD Model (Shank3+/- Mice).

The Journal of neuroscience : the official journal of the Society for Neuroscience
2025

THE EFFICACY OF SENSORY-ADAPTED DENTAL INTERVENTIONS FOR CHILDREN WITH DEVELOPMENTAL DISABILITIES AND SENSORY SENSITIVITIES.

Georgian medical news
2026

Alterations in electroencephalography signals in female fragile X syndrome mouse model on a C57BL/6J background.

Physiology &amp; behavior
2026

Pregabalin in Pregnancy: Major Congenital Malformations, Other Birth Outcomes, and Neurodevelopmental Outcomes.

The Journal of clinical psychiatry
2025

PACS1 syndrome variant alters proteomic landscape of developing cortical organoids.

bioRxiv : the preprint server for biology
2026

Developmental neurotoxicity evaluation of di(2-ethylhexyl) phthalate (DEHP) and three alternative plasticizers in human neurospheres.

Environment international
2026

Use of a humanoid robot to reduce distress in autistic children undergoing paediatric cardiology visits: a pilot study.

BMJ paediatrics open
2025

Case Report: An exploration of the neurodevelopmental phenotype of five patients with 48,XXYY during early childhood years.

Frontiers in endocrinology
2026

Causal relationship between tractography-based brain white matter structural connectome and risk of psychiatric disorders: A bidirectional Mendelian randomization study.

Psychiatry research. Neuroimaging
2026

Medical Gases as Emerging Regulators of Paediatric Endocrine and Neurodevelopmental Pathways: A Mini-Review.

Acta paediatrica (Oslo, Norway : 1992)
2026

Therapeutic GSK-3β targeting stabilizes multifunctional β-catenin to rescue neuronal and behavioral deficits in fragile X messenger ribonucleoprotein 1 knockout mice.

Brain research bulletin
2025

FMRP restoration in parvalbumin interneurons: A circuit-specific improvement of visual learning in fragile X syndrome.

iScience
2025

Dysfunctional neural dynamics associated with sensory phenotypes in Fragile X syndrome: insights from mouse models.

Journal of neurodevelopmental disorders
2025

Neurodevelopmental Phenotype Associated with TRIP12: Report of a Family Carrying the p.Asp1135Val Variant.

Genes
2025

Distinct protein profiles in cord blood plasma of children with autism spectrum disorder.

Scientific reports
2025

Retinal Pigment Epitheliopathy due to Sub-Optimal Recycling of Vitamin A (RESORVA): A Novel RDH11-Related Phenotype.

Clinical genetics
2025

WeeFIM and CRIDI-TEA results in children with Down syndrome and autism spectrum disorder at the CRIT Guanajuato.

Boletin medico del Hospital Infantil de Mexico
2025

Two cases of TBL1XR1 heterozygous variants in children: a new splicing site variant identification and functional analysis through molecular docking and molecular dynamics simulation.

Human genomics
2026

Expanding the Early Childhood Manifestations of ITPR1 Heterozygous Variants Beyond Congenital Ataxia and Gillespie Syndrome.

Neurology. Genetics
2025

The role of interleukin-37 and interleukin-38 in the development and remission of autism spectrum disorder: a comprehensive review of neuroinflammatory mechanisms and potential therapeutic implications.

Frontiers in immunology
2025

Clinical and neuropsychological characterization of Jacobsen syndrome (del11q).

Journal of neurodevelopmental disorders
2025

Double Genetic Diagnosis Involving MECP2 and EPHB4 in a Child with Neurodevelopmental Delay and Vascular Anomalies: A Case Report.

Molecular syndromology
2025

Novel KDM3B Variants in Two Chinese Patients With Global Developmental Delay and Autism.

International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience
2026

Difference in Language Profiles of Children With Autism Spectrum Disorder and Down Syndrome Is Not Driven by Non-Verbal Cognition.

International journal of language &amp; communication disorders
2025

A Case of CSNK2A1 Gene Variant Causing Okur-Chung Syndrome and Analysis of the Clinical Phenotypic Spectrum.

Molecular genetics &amp; genomic medicine
2025

MeCP2 regulates telencephalic development in human cerebral organoids.

Cell reports
2026

Uncovering novel endocannabinoidome-gut microbiome-brain axis-based therapeutic targets in a Fragile X Syndrome mouse model.

Progress in neuro-psychopharmacology &amp; biological psychiatry
2026

Functional evaluation of NAA10 variants in patients with Ogden syndrome.

Psychiatric genetics
2025

Tatton-Brown-Rahman Syndrome Due to a Novel DNMT3A Variant Presenting With Autism, Attention-Deficit/Hyperactivity Disorder (ADHD), and Regression: A Saudi Case Report.

Cureus
2025

Comorbidity of Attention Deficit Hyperactivity Disorder (ADHD) and Chung-Jansen Syndrome: Case Report and Review of Literature.

Clinical case reports
2025

Concomitant Mosaic Turner Syndrome and Congenital Adrenal Hyperplasia in 1 of 3 Patients of USP9X Variant-Associated Autism Spectrum Disorder.

Molecular syndromology
2026

Mapping the genetic landscape across 14 psychiatric disorders.

Nature
2025

Lennox-Gastaut syndrome: Comorbidities and clinical implications.

Seminars in pediatric neurology
2025

Jordan syndrome due to PPP2R5D gene mutation: a report of two pediatric cases and literature review.

Translational pediatrics
2026

Shank3B-/- pathophysiology: Early metformin treatment rescues behavioural deficits and normalises exacerbated mRNA translation.

Neurobiology of disease
2025

The Cerebellar Neuropsychiatric Rating Scale Version 2: Development and Validation.

Cerebellum (London, England)
2025

Urinary metabolomic profiling in 22q11.2 deletion syndrome reveals microbial and mitochondrial signatures related to autism and psychosis risk.

PCN reports : psychiatry and clinical neurosciences
2025

Overlapping Pathways: Autism Spectrum Disorder in Fragile X Carrier States and the Need for Greater Awareness.

Cureus
2026

Randomised Controlled Trial Evidence on Medicinal Cannabis for Treatment of Mental Health and Substance Use Disorders: A Scoping Review.

Clinical drug investigation
2025

A case of Klinefelter syndrome presenting with an acute psychotic episode after COVID-19 infection.

PCN reports : psychiatry and clinical neurosciences
2026

Vocabulary and Syntactic Development in Japanese Children With Autism Spectrum Disorder and Down Syndrome Accompanied by Intellectual Disability.

Journal of intellectual disability research : JIDR
2026

How Variability Is Addressed in Interventions for Neurodiverse Conditions: Implications for Stuttering.

Journal of speech, language, and hearing research : JSLHR
2025

Delayed onset of striatal projection neuron hyperexcitability in Fmr1-/y mice.

Frontiers in cellular neuroscience
2025

The Role of Mitochondrial DNA Copy Number in Neurodevelopmental Disorders: A Bidirectional Two-Sample Mendelian Randomization Study.

Psychology research and behavior management
2026

Revisiting Wiedemann-Steiner Syndrome: Novel KMT2A Variants and Broadened Clinical Spectrum.

Balkan medical journal
2025

Delayed Diagnosis of 48XXYY Syndrome: A Case Report Highlighting the Role of G-Banding Cytogenetics.

Journal of UOEH
2025

Impaired cortical development and translational control in a missense mouse model of DDX3X syndrome.

Disease models &amp; mechanisms
2025

UBE3A stabilization of β-catenin preserves synaptic proteins essential for motor and cognitive functions in Angelman Syndrome.

Molecular autism
2025

Prevalence of neurodevelopmental and psychiatric disorders in Noonan syndrome: a systematic review and meta-analysis.

European journal of pediatrics
2025

Beyond Vision: Unveiling the Psychiatric Dimensions of Keratoconus.

Medicina (Kaunas, Lithuania)
2025

Kmt2c/Mll3 Haploinsufficiency Causes Autism-like Behavioral Deficits in Mice.

Biomolecules
2025

Deep Brain Stimulation in Treatment-Resistant Psychiatric Disorders: Efficacy, Safety, and Future Directions.

Brain sciences
2025

Deciphering copy number variations and gene implications in an Egyptian cohort with autism spectrum disorders.

BMC medical genomics
2025

Disrupted theta synchronization and synaptic connectivity in the visual cortex of Fmr1 KO mice.

Nature communications
2025

The role of autoantibodies in the neuropsychiatric manifestations of 22q11 deletion syndrome.

Acta neuropsychiatrica
2025

A novel de novo missense variant in ASH1L associated with mild autism spectrum disorder and an uneven cognitive profile: a case report.

Journal of medical case reports
2025

Long-read sequencing identifies a novel de novo inversion in SMARCC2 in a pediatric patient with Coffin-siris syndrome 8: a case report.

BMC medical genomics
2025

Unveiling the multitarget mechanism of Liuwei Dihuang decoction in autism spectrum disorder via network pharmacology and molecular docking.

Scientific reports
2026

Deciphering the molecular connections between polycystic ovarian syndrome and autism spectrum disorder using bioinformatic analysis.

Hormones and behavior
2025

The 4E-BPs as Translational Regulators in Neurological Disorders: Molecular Mechanisms and Therapeutic Potential.

Molecular neurobiology
2025

[Evolution of DEE-SWAS into photosensitive epilepsy in a patient with an ASH1L gene mutation].

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova
2025

Case Report: Co-occurring de novo SHANK3 and SRCAP variants in a patient with autoimmune encephalitis and exhibiting Phelan-McDermid syndrome features.

Frontiers in genetics
2025

Spatiotemporal Brain Transcriptomics Reveal Risk Gene Hot-Spots in Major Neuropsychiatric Disorders.

Research square
2025

Aberrant Neural Entrainment to Word-Level Speech Patterns in Fragile X Syndrome: Evidence for a Statistical Learning Deficit.

bioRxiv : the preprint server for biology
2025

Distinct patterns of de novo coding variants contribute to Tourette Syndrome etiology.

bioRxiv : the preprint server for biology
2025

Developmental CA2 perineuronal net reduction restores social memory in Shank3 mutant mice.

bioRxiv : the preprint server for biology
2025

Maternal Folate Receptor Alpha Autoantibodies and Increased Fetal Nuchal Translucency as Potential Early Markers of Autism Spectrum Disorder.

Brain and behavior
2026

Shared and divergent alteration of whole-brain connectivity and sensory deficits in multiple autism mouse models.

Molecular psychiatry
2025

Tryptophan Metabolism in Neurodevelopment and Its Implications For Neurodevelopmental Disorders.

Molecular neurobiology
2025

Shank3 establishes AMPA receptor subunit composition at cerebellar mossy fiber-granule cell synapses and is associated with altered regional microglial morphology.

Neurobiology of disease
2025

Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability.

American journal of human genetics
2025

Behavioral and molecular insights into anxiety in ube3a and fmr1 zebrafish models of autism spectrum disorders.

Translational psychiatry
2025

Transdiagnostic similarities and distinctions in brain networks associated with autistic social impairments: a prospective cohort study.

Molecular autism
2025

Genetic crosstalk of autism spectrum disorders and epilepsy: an insight into the presynapse.

Frontiers in neurology
2025

Monogenic defects in Russian children with autism spectrum disorders.

World journal of clinical pediatrics
2025

Atypical case of Rett syndrome with concurrent MECP2 gene mutation and del(15)(q22qter) karyotype: A case report and review of literature.

World journal of clinical pediatrics
2025

[Alexithymia - traditional and advanced studies].

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova
2025

Transcription factor 4 regulates the interhemispheric midline remodeling through neuron-astroglia communications during corpus callosum formation.

Translational psychiatry
2025

Future Directions for Studying the Potential of Mammalian Dscam in Autism Spectrum Disorder and Alzheimer's Disease: Insights from Dose Sensitivity.

Molecular neurobiology
2025

Rethinking Catatonia in Neurodevelopmental Conditions: Toward a Refined Typology and Research Framework.

Psychiatry and clinical psychopharmacology
2025

RNA-based therapies for neurodevelopmental disorders: innovative tools for molecular correction.

Frontiers in molecular biosciences
2026

Optimizing Inpatient Care for Children with Neurodevelopmental Disabilities.

The Journal of pediatrics
2025

Harnessing the microbiota-gut-brain axis to prevent and treat pediatric neurodevelopmental disorders: translational insights and strategies.

Journal of translational medicine
2026

Age-varying distinct neuroanatomy in young children with autism spectrum disorder and fragile X syndrome.

Molecular psychiatry
2025

[Genetic and clinical characteristics in epilepsy patients with ATP6V1A gene variants].

Zhonghua er ke za zhi = Chinese journal of pediatrics

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

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Comunidades

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

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. The quality of life of parents of children with disabilities in Saudi Arabia: a systematic review.
    Frontiers in pediatrics· 2026· PMID 41867922mais citado
  2. Expanding the Phenotypic Spectrum of the Recurrent De Novo FBXO31 p.Asp334Asn Variant: Evidence for a Novel Neurodevelopmental Disorder (Kruer Syndrome).
    Clinical genetics· 2026· PMID 41858232mais citado
  3. The efficacy and safety of cannabinoids for the treatment of mental disorders and substance use disorders: a systematic review and meta-analysis.
    The lancet. Psychiatry· 2026· PMID 41856154mais citado
  4. Epilepsy in pediatric patients with PTEN hamartoma tumor syndrome: First step in recommendations for clinical management.
    European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society· 2026· PMID 41825102mais citado
  5. Repeated Stress Escalates Aggression and Activity in Fronto-Limbic Regions in Cntnap2-/- Mice.
    Genes, brain, and behavior· 2026· PMID 41823726mais citado
  6. Serum bikunin isoforms in congenital disorders of glycosylation and linkeropathies.
    J Inherit Metab Dis· 2020· PMID 32700771recente
  7. Complementarity of electrophoretic, mass spectrometric, and gene sequencing techniques for the diagnosis and characterization of congenital disorders of glycosylation.
    Electrophoresis· 2018· PMID 29869806recente
  8. A human case of SLC35A3-related skeletal dysplasia.
    Am J Med Genet A· 2017· PMID 28777481recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:370943(Orphanet)
  2. OMIM OMIM:615553(OMIM)
  3. MONDO:0014248(MONDO)
  4. Epilepsia(PCDT · Ministério da Saúde)
  5. GARD:17604(GARD (NIH))
  6. Variantes catalogadas(ClinVar)
  7. Busca completa no PubMed(PubMed)
  8. Q55784749(Wikidata)

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

Síndrome de espectro clínico de autismo-epilepsia-artrogripose
Compêndio · Raras BR

Síndrome de espectro clínico de autismo-epilepsia-artrogripose

ORPHA:370943 · MONDO:0014248
🇧🇷 Brasil SUS
Geral
Prevalência
<1 / 1 000 000
Casos
8 casos conhecidos
Herança
Autosomal recessive
CID-10
Q87.8 · Outras síndromes com malformações congênitas especificadas, não classificadas em outra parte
CID-11
Início
Infancy, Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C3809910
Repurposing
14 candidatos
aminohydroxybutyric-acidcarbonic anhydrase inhibitor
diclofenamidesuccinimide antiepileptic
ethosuximideglutamate receptor antagonist
+11 outros
Wikidata
Papers 10a
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