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  1. 11501
    “…CONCLUSIONS: PACS1-NDD is a moderately-severe intellectual disability syndrome in which seizures occur but are not a defining or primary feature. …”
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    PACS1-Neurodevelopmental disorder: clinical features and trial readiness
  2. 11502
    “…The NDD group consisted of adults with autism spectrum disorder ASD (n = 183) or attention-deficit/hyperactivity disorder (ADHD) (n = 174) without intellectual disability, recruited from a tertiary outpatient clinic. …”
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    Using the five to fifteen-collateral informant questionnaire for retrospective assessment of childhood symptoms in adults with and without autism or ADHD
  3. 11503
    “…While the association of epilepsy and intellectual disability (ID) with variants affecting function in genes encoding potassium channels is well known, GOF missense variants in K(+) channel encoding genes in individuals with syndromic developmental disorders have only recently been recognized. …”
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    Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3—a subgroup of K(+) channelopathies
  4. 11504
    “…We aimed to identify patterns of cognitive differences and characterize subgroups of Mexican children and adolescents with three neurodevelopmental disorders (NDD): intellectual disability (ID), autism spectrum disorders (ASD) and attention deficit/hyperactivity disorder (ADHD). …”
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    Children and adolescents with neurodevelopmental disorders show cognitive heterogeneity and require a person-centered approach
  5. 11505
    “…We present a 12‐year‐old Mexican female patient with intellectual disability, dysmorphic features, polymenorrhea, and long survival, whose initial cytogenetic study referred to a small supernumerary marker chromosome. …”
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    Mosaic proximal trisomy 13q and regular trisomy 13 in a female patient with long survival: Involvement of an incomplete trisomic rescue and a chromothripsis event
  6. 11506
    por Malik, Sudhir, Meehan, Samuel, Lieret, Kilian, Oan Evans, Meirin, Villanueva, Michel H., Katz, Daniel S., Stewart, Graeme A., Elmer, Peter, Aziz, Sizar, Bellis, Matthew, Bianchi, Riccardo Maria, Bianco, Gianluca, Bonilla, Johan Sebastian, Burger, Angela, Burzynski, Jackson, Chamont, David, Feickert, Matthew, Gadow, Philipp, Gruber, Bernhard Manfred, Guest, Daniel, Hageboeck, Stephan, Heinrich, Lukas, Horzela, Maximilian M., Huwiler, Marc, Lange, Clemens, Lehmann, Konstantin, Li, Ke, Majumder, Devdatta, Mamužić, Judita, Nelson, Kevin, Newhouse, Robin, Nibigira, Emery, Norberg, Scarlet, Pineda, Arturo Sánchez, Proffitt, Mason, Regnery, Brendan, Roepe, Amber, Roiser, Stefan, Schreiner, Henry, Shadura, Oksana, Stark, Giordon, Swatman, Stephen Nicholas, Thais, Savannah, Valassi, Andrea, Wunsch, Stefan, Yakobovitch, David, Yuan, Siqi
    Publicado 2021
    “…Beyond serving the community by ensuring that members are able to pursue research goals, the program serves individuals by providing intellectual capital and transferable skills important to careers in the realm of software and computing, inside or outside HEP.…”
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    Software Training in HEP
  7. 11507
    “…Materials and Methods: Study participants were 86 children between 8 and 17 years of age (mean age, 11.7 years; 70 boys, 16 girls; mean intellectual quotient, 83.6). QOL was evaluated using the self-assessment KINDL(R). …”
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    Psychological Status Associated With Low Quality of Life in School-Age Children With Neurodevelopmental Disorders During COVID-19 Stay-At-Home Period
  8. 11508
    “…Our findings showed that about 90 percent of patients have shown the first symptoms in childhood and teenage years and different types of neurodevelopmental disorders, such as intellectual disability, developmental arrest, and behavioral disorders, have been common findings for these patients. …”
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    Clinical and molecular spectrum of P/Q type calcium channel Cav2.1 in epileptic patients
  9. 11509
    “…Mutations in this gene cause DDOD syndrome, DOORS syndrome, and Zimmermann–Laband syndrome, which share overlapping feature of congenital sensorineural deafness, onychodystrophy, and different extents of intellectual disability without or with epilepsy. However, the underlying mechanisms remain unclear. …”
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    Syndromic Deafness Gene ATP6V1B2 Controls Degeneration of Spiral Ganglion Neurons Through Modulating Proton Flux
  10. 11510
    “…DISCUSSION: Early rehabilitation therapy can improve the neuromotor and intellectual development in high-risk infants with brain injury.…”
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    The effects of early rehabilitation in high-risk infants with brain injury: a systematic review and meta-analysis
  11. 11511
    “…Methods: Two systematic literature reviews were conducted in PubMed and Embase for the period 2014–2019 and focusing on the prevalence of ASD and nine co-morbidities of interest based on their frequency and/or severity: Attention Deficit Hyperactivity Disorder (ADHD), anxiety, depressive disorders, epilepsy, intellectual disability (ID), sleep disorders, sight/hearing impairment/loss, and gastro-intestinal syndromes (GI). …”
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    Prevalence of Autism Spectrum Disorder and Co-morbidities in Children and Adolescents: A Systematic Literature Review
  12. 11512
    por Yabumoto, Megan, Kianmahd, Jessica, Singh, Meghna, Palafox, Maria F., Wei, Angela, Elliott, Kathryn, Goodloe, Dana H., Dean, S. Joy, Gooch, Catherine, Murray, Brianna K., Swartz, Erin, Schrier Vergano, Samantha A., Towne, Meghan C., Nugent, Kimberly, Roeder, Elizabeth R., Kresge, Christina, Pletcher, Beth A., Grand, Katheryn, Graham, John M., Gates, Ryan, Gomez‐Ospina, Natalia, Ramanathan, Subhadra, Clark, Robin Dawn, Glaser, Kimberly, Benke, Paul J., Cohen, Julie S., Fatemi, Ali, Mu, Weiyi, Baranano, Kristin W., Madden, Jill A., Gubbels, Cynthia S., Yu, Timothy W., Agrawal, Pankaj B., Chambers, Mary‐Kathryn, Phornphutkul, Chanika, Pugh, John A., Tauber, Kate A., Azova, Svetlana, Smith, Jessica R., O’Donnell‐Luria, Anne, Medsker, Hannah, Srivastava, Siddharth, Krakow, Deborah, Schweitzer, Daniela N., Arboleda, Valerie A.
    Publicado 2021
    “…These patients exhibit a range of clinical phenotypes including intellectual disability, mobility and language difficulties, craniofacial dysmorphology, and skeletal anomalies. …”
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    Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms
  13. 11513
    “…Severity of impairment was associated with reduced QoL in all life periods of the study (childhood, adolescence, and young adulthood): motor impairment with social relationships, and more nuancedly intellectual disability with psychological well-being and social relationships. …”
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    Quality of Life in Young Adults With Cerebral Palsy: A Longitudinal Analysis of the SPARCLE Study
  14. 11514
    “…The scoping review will summarise the literature on virtual team-based care planning for the purpose of informing the implementation of a virtual PIECES™ intervention (Physical/Intellectual/Emotional health, Capabilities, Environment, and Social).…”
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    Virtual team-based care planning with older persons in formal care settings: a scoping review protocol
  15. 11515
    “…All patients had severe intellectual disability and development delays. Significance: IS was one of the phenotypes of DYNC1H1 variants. …”
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    De Novo Variants in the DYNC1H1 Gene Associated With Infantile Spasms
  16. 11516
    “…Clinical symptoms of heterotopia vary in severity of intellectual disability and may be associated with epileptic disorders. …”
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    A novel missense variant in the EML1 gene associated with bilateral ribbon-like subcortical heterotopia leads to ciliary defects
  17. 11517
    “…It also became clear that scientific advisers and policy makers operated in different intellectual worlds, and that useful advice was most likely to be given when individuals could span this gap and understand the agendas of each group. …”
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    Scientific advice and COVID-19 policy making in the UK: an oral history study
  18. 11518
    “…The proband of family 915 had ataxia, spasticity, dysarthria, dystonia, and intellectual disability. Both probands did not show initial signs of vision and/or hearing loss. …”
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    A Novel CLN6 Variant Associated With Juvenile Neuronal Ceroid Lipofuscinosis in Patients With Absence of Visual Loss as a Presenting Feature
  19. 11519
    “…A weak negative association was found between age for the total sample and overall PHQ-4 score (p = 0.0417). Presence of an intellectual or learning disability/challenge was associated with a lower CIQ score (p = 0.0026). …”
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    Examining the Relationship Between Community Integration and Mental Health Characteristics of Individuals With Childhood Acquired Neurological Disability
  20. 11520
    “…The affected individuals present at birth with ptosis, ophthalmoplegia, exotropia, facial weakness, facial dysmorphisms, and, in most cases, distal congenital joint contractures, and subsequently develop intellectual disabilities, gait disorders with proximal joint contractures, Kallmann syndrome (hypogonadotropic hypogonadism and anosmia), and a progressive peripheral neuropathy during the first decade of life. …”
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    TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy
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