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  1. 12181
    “…Phenotyping confirmed the hallmark features including intellectual developmental disorder (IDD) (n = 9/9; 100%), facial dysmorphisms (n = 9/9; 100%), neurologic impairment (n = 9/9; 100%), short stature (n = 8/9; 89%), skeletal dysplasia (n = 8/9; 89%), and short limbs (n = 8/9; 89%). …”
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    NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical Spectrum
  2. 12182
    “…CONCLUSIONS: The SBQ-ASC is a brief self-report suicidality assessment tool, developed and validated with and for autistic adults, without co-occurring intellectual disability. The SBQ-ASC is appropriate for use in research to identify suicidal thoughts and behaviours in autistic and possibly autistic people, and model associations with risk and protective factors. …”
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    Development and validation of the suicidal behaviours questionnaire - autism spectrum conditions in a community sample of autistic, possibly autistic and non-autistic adults
  3. 12183
    “…Individuals born early term had 7% higher rates (IRR, 1.07 [95% CI, 1.06-1.08]) for any neuropsychiatric diagnosis and a 31% higher rate for intellectual disability (IRR, 1.31 [95% CI, 1.25-1.37]) compared with those born at term. …”
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    Rates of Neuropsychiatric Disorders and Gestational Age at Birth in a Danish Population
  4. 12184
    “…Aneuploidy is the leading cause of early pregnancy loss, intellectual disability, and multiple congenital anomalies. …”
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    Single-cell chromatin accessibility landscape of human umbilical cord blood in trisomy 18 syndrome
  5. 12185
    “…Compared to literature, patients showed similar demographics (age range, diagnosis age, sex distribution); similar manifestations and prevalence (epilepsy, intellectual disability, renal disease); lower disease prevalence (1 in 63,290); lower mortality (0.21% per year); and near-identical standardized mortality ratio (4.99). …”
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    A population-based study to estimate survival and standardized mortality of tuberous sclerosis complex (TSC) in Taiwan
  6. 12186
    “…Integration across e-platforms is crucial. Intellectual property and other issues prohibited CDS integration within electronic medical records and provincial e-health platforms. …”
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    Lessons learned from Integrated Management Program Advancing Community Treatment of Atrial Fibrillation (IMPACT-AF): a pragmatic clinical trial of computerized decision support in primary care
  7. 12187
    “…Thus, our study implicates CACNA1I gain-of-function mutations in neurodevelopmental disorders, with a phenotypic spectrum ranging from borderline intellectual functioning to a severe neurodevelopmental disorder with epilepsy.…”
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    CACNA1I gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders
  8. 12188
    “…Autistic individuals with an intellectual disability were underrepresented in this sample. …”
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    Exploring sensory phenotypes in autism spectrum disorder
  9. 12189
    “…Patients with PRS, either isolated or associated with Stickler syndrome have good intellectual prognosis. Nevertheless, the quality of life in adolescence and the phonatory and morphological outcomes are rarely analysed. …”
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    Quality of life and phonatory and morphological outcomes in cognitively unimpaired adolescents with Pierre Robin sequence: a cross-sectional study of 72 patients
  10. 12190
    “…Although most existing CHW programs recruit adults as CHWs, high school students, with their intellectual readiness and intimate community knowledge, also have great potential to be engaged as CHWs that impact community health. …”
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    Online High School Community Health Worker Curriculum: Key Strategies of Transforming, Engagement, and Implementation
  11. 12191
    “…Copy number variants (CNVs) are associated with syndromic and severe neurological and psychiatric disorders (SNPDs), such as intellectual disability, epilepsy, schizophrenia, and bipolar disorder. …”
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    Polygenic burden has broader impact on health, cognition, and socioeconomic outcomes than most rare and high-risk copy number variants
  12. 12192
    “…Studies have shown that CNVs are linked to various disorders, including autism, intellectual disability, and schizophrenia. Consequently, the interest in studying a possible association of CNVs to specific disease traits is growing. …”
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    MCKAT: a multi-dimensional copy number variant kernel association test
  13. 12193
    “…The clinical accuracy of whole genome sequencing to detect repeat expansions was prospectively examined in previously genetically tested and undiagnosed patients recruited in 2013–17 to the 100 000 Genomes Project in the UK, who were suspected of having a genetic neurological disorder (familial or early-onset forms of ataxia, neuropathy, spastic paraplegia, dementia, motor neuron disease, parkinsonian movement disorders, intellectual disability, or neuromuscular disorders). …”
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    Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study
  14. 12194
    por Xiaoli, Shi, Weiyan, Hao, Li, Dandan
    Publicado 2022
    “…Developmental Screening Test for ages 0 to 6 (DST) and Bailey Infant Development Scale (BIDS) were used to rate the intellectual and behavioral development of infants and children. …”
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    Effects of Neonatal Feeding Patterns on Infant Health
  15. 12195
    “…PD presents with a range of findings including dysmorphic features, intellectual disabilities, recurrent infections, intractable skin ulceration, autoimmunity, and splenomegaly. …”
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    Prolidase deficiency, a rare inborn error of immunity, clinical phenotypes, immunological features, and proposed treatments in twins
  16. 12196
    “…CASE PRESENTATION: An 18-year-old female with a history of microcephaly, pervasive developmental disorder, intellectual disability, sensory integration disorder, gastroparesis, and hypotonia presented to our genetics clinic. …”
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    Characterization of a rare mosaic unbalanced translocation of t(3;12) in a patient with neurodevelopmental disorders
  17. 12197
    “…The most common adverse events were reduced appetite (20%), irritability (14.2%), headache (10.6%), sleep problems (9.4%), stomachache (9.4%), and tics (5%). Intellectual disability increased the risk of any adverse event in general and of irritability in particular. …”
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    Acute Tolerability of Methylphenidate in Treatment-Naïve Children with ADHD: An Analysis of Naturalistically Collected Data from Clinical Practice
  18. 12198
    “…Multiple lines of evidence suggest that a deficiency of Fragile X Mental Retardation Protein (FMRP) mediates dysfunction of the metabotropic glutamate receptor subtype 5 (mGluR(5)) in the pathogenesis of fragile X syndrome (FXS), the most commonly known single-gene cause of inherited intellectual disability (ID) and autism spectrum disorder (ASD). …”
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    Fragile X Mental Retardation Protein and Cerebral Expression of Metabotropic Glutamate Receptor Subtype 5 in Men with Fragile X Syndrome: A Pilot Study
  19. 12199
    “…In this study, we developed two age-dependent game-based learning programs, which enable continuous approaches for childhood cancer survivors along their intellectual maturation. Then, we assessed the effectiveness of the programs. …”
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    A pilot study of game-based learning programs for childhood cancer survivors
  20. 12200
    “…BACKGROUND: SATB2-associated syndrome (SAS) is a multisystem neurodevelopmental disorder characterised by intellectual disability, speech delay, and craniofacial anomalies. …”
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    The behavioural phenotype of SATB2-associated syndrome: a within-group and cross-syndrome analysis
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