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  1. 9961
    “…Fragile X syndrome (FXS) is the most common form of inherited intellectual disability. A reduction in neuronal inhibition mediated by γ-aminobutyric acid type A receptors (GABA(A)Rs) has been implicated in the pathophysiology of FXS. …”
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    Neuroactive Steroids Reverse Tonic Inhibitory Deficits in Fragile X Syndrome Mouse Model
  2. 9962
    “…In humans, mutations in FOXP1 and FOXP2 have been implicated in cognitive deficits including intellectual disability and speech disorders. Drosophila exhibits a single ortholog, called FoxP, but due to a lack of characterized mutants, our understanding of the gene remains poor. …”
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    Conserved regulation of neurodevelopmental processes and behavior by FoxP in Drosophila
  3. 9963
    “…MATERIALS AND METHODS: We performed clinical, genetic, and histological analyses of a consanguineous family afflicted with wrinkled and loose skin, microcephaly, intellectual disability, cleft lip and palate, downslanting palpebral fissures, ectopia lentis, bleeding diathesis, and defective wound healing. …”
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    A Novel ATP6V0A2 Mutation Causing Recessive Cutis Laxa with Unusual Manifestations of Bleeding Diathesis and Defective Wound Healing
  4. 9964
    “…After excluding children with intellectual disability, autism or hearing problems, the sample included 28 XXX, 18 XXY and 14 XYY Low Bias cases and 7 XXX, 13 XXY and 17 XYY High Bias cases. …”
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    Language phenotypes in children with sex chromosome trisomies
  5. 9965
    por Akpinar, Pinar
    Publicado 2018
    “…There was a significant correlation between the 25(OH)D levels and GMFCS and MACS levels and associated impairments such as the epilepsy history, intellectual delay, teeth problems, and growth retardation (p<0.05). …”
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    Vitamin D status of children with cerebral palsy: Should vitamin D levels be checked in children with cerebral palsy?
  6. 9966
    “…Consanguinity was found in 41% of the parents, 26.6% of the patients were born by caesarean section(C/S), 62.8% were nurtured exclusively by breastfeeding in their first six months after birth, 42.5% of them visited faith healers before consulting a psychiatrist, 43% had neurodevelopmental disorders, 26.6% had intellectual disabilities with behavioral and emotional comorbidities and 30.4% had other mental/behavioral disorders. …”
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    Characteristics of patients attending the child and adolescent psychiatric outpatient clinic in Erbil city
  7. 9967
    “…Microdeletions at 1q43-q44 have been described as resulting in a clinically recognizable phenotype of intellectual disability (ID), facial dysmorphisms and microcephaly (MIC). …”
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    The Role of AKT3 Copy Number Changes in Brain Abnormalities and Neurodevelopmental Disorders: Four New Cases and Literature Review
  8. 9968
    “…Kabuki syndrome (KS) is a rare congenital disorder (1/32000 births) characterized by distinctive facial features, intellectual disability, short stature, and dermatoglyphic and skeletal abnormalities. …”
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    Anatomical and functional abnormalities on MRI in kabuki syndrome
  9. 9969
    “…Mutations within the Shank3 gene, which encodes a key postsynaptic density (PSD) protein at glutamatergic synapses, contribute to the genetic etiology of defined autism spectrum disorders (ASDs), including Phelan-McDermid syndrome (PMS) and intellectual disabilities (ID). Although there are a series of genetic mouse models to study Shank3 gene in ASDs, there are few rat models with species-specific advantages. …”
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    Altered Behaviors and Impaired Synaptic Function in a Novel Rat Model With a Complete Shank3 Deletion
  10. 9970
    “…Technology has led to rapid progress in the identification of genes involved in neurodevelopmental disorders such as intellectual disability (ID), but our functional understanding of the causative genes is lagging. …”
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    Individual components of the SWI/SNF chromatin remodelling complex have distinct roles in memory neurons of the Drosophila mushroom body
  11. 9971
    “…With regards to the cognitive profile, most individuals with KS have an Intellectual Disability, but the magnitude of the impairment ranges from mild to severe, and verbal abilities are generally stronger than nonverbal abilities (i.e., visual spatial and visual perception abilities). …”
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    Longitudinal Cognitive and Behavioral Presentation of Adult Female with Kabuki Syndrome
  12. 9972
    “…At least one fGID was present in 30.5% of patients, constipation being the most prevalent (47.4% of fGID patients); fGID were significantly associated with intellectual disability (ID) (p = 0.017), sleep disorders (p = 0.012), and prescription of psychopharmacological treatment (p = 0.019). …”
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    Functional Gastrointestinal Disease in Autism Spectrum Disorder: A Retrospective Descriptive Study in a Clinical Sample
  13. 9973
    “…In addition to pronounced intellectual disability, seizures, and delayed growth, WHS presents with a characteristic facial dysmorphism and varying prevalence of microcephaly, micrognathia, cartilage malformation in the ear and nose, and facial asymmetries. …”
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    Wolf-Hirschhorn Syndrome-Associated Genes Are Enriched in Motile Neural Crest Cells and Affect Craniofacial Development in Xenopus laevis
  14. 9974
    “…DS is associated with several phenotypes, including intellectual disability, congenital heart disease, childhood leukemia and immune defects. …”
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    Analysis of a nanoparticle-enriched fraction of plasma reveals miRNA candidates for Down syndrome pathogenesis
  15. 9975
    “…We enrolled 22 subjects with DS, aged 25-40 years, with moderate intellectual disability. Participants were randomly divided into 2 groups: NW training group which underwent 10 weeks of training at a frequency of 3 times a week and control group with no specific intervention. …”
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    Evaluation of the Effectiveness of Nordic Walking Training in Improving the Gait of Persons with Down Syndrome
  16. 9976
    “…In humans, dysfunctional primary cilia result in Bardet-Biedl syndrome (BBS), which presents with clinical features including intellectual disabilities, obesity, and retinal degeneration, and, in mouse models, the added feature of hydrocephalus. …”
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    Absence of BBSome function leads to astrocyte reactivity in the brain
  17. 9977
    “…De novo heterozygous missense variants in the γ-tubulin gene TUBG1 have been linked to human malformations of cortical development associated with intellectual disability and epilepsy. Here, we investigated through in-utero electroporation and in-vivo studies, how four of these variants affect cortical development. …”
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    TUBG1 missense variants underlying cortical malformations disrupt neuronal locomotion and microtubule dynamics but not neurogenesis
  18. 9978
    “…Strongest indicators of syndromic autism were intellectual disability, epilepsy or other neurological plus symptoms. …”
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    Comprehensive Analysis of Rare Variants of 101 Autism-Linked Genes in a Hungarian Cohort of Autism Spectrum Disorder Patients
  19. 9979
    “…There were no statistically significant differences in drug-refractory epilepsy, ASD severity, or intellectual disability between the positive genetic test group and the negative genetic group. …”
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    The Clinical and Genetic Features of Co-occurring Epilepsy and Autism Spectrum Disorder in Chinese Children
  20. 9980
    “…DESIGN: Since 1997 paediatric surveillance for variant Creutzfeldt-Jakob disease (vCJD) has been performed by identifying children aged less than 16 years with progressive intellectual and neurological deterioration (PIND) and searching for vCJD among them. …”
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    Surveillance for variant CJD: should more children with neurodegenerative diseases have autopsies?
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