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  1. 10681
    “…All family members lacked common features of GAN, including ataxia, nystagmus, intellectual disability, seizures, and central nervous system involvement. …”
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    Novel homozygous missense mutation in GAN associated with Charcot-Marie-Tooth disease type 2 in a large consanguineous family from Israel
  2. 10682
    “…The participants were all able to speak fluently and had no significant limitations in intellectual functioning. Clinical assessment of participants was carried out on the basis of Diagnostic and Statistical Manual of Mental Disorders 4th Edition, Text Revision criteria and Schedule for Affective Disorders and Schizophrenia for School-Age Children-Present and Lifetime Version. …”
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    Assessment of suicidality in children and adolescents with diagnosis of high functioning autism spectrum disorder in a Turkish clinical sample
  3. 10683
    “…Positive effects were observed in the frequency of intellectual, cultural – artistic, and social activities, perceptions of aging, satisfaction with social relationships, and self-efficacy for aging. …”
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    Effectiveness of the Vital Aging program to promote active aging in Mexican older adults
  4. 10684
    “…PURPOSE: Truncating mutations in the maternally imprinted, paternally expressed gene MAGEL2, which is located in the Prader-Willi critical region 15q11-13, have recently been reported to cause Schaaf-Yang syndrome, a Prader-Willi-like disease, manifesting developmental delay/intellectual disability, hypotonia, feeding difficulties, and autism spectrum disorder. …”
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    The phenotypic spectrum of Schaaf-Yang syndrome – 18 new affected individuals from 14 families
  5. 10685
    “…Clinical features are moderate to severe intellectual disability and behavioural problems in the autism spectrum. …”
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    Is there an effect of intranasal insulin on development and behaviour in Phelan-McDermid syndrome? A randomized, double-blind, placebo-controlled trial
  6. 10686
    “…INTRODUCTION: Motor stereotypies represent a typical example of the difficulty in distinguishing non-clinical behaviors (physiological and transient) from symptoms or among different disorders [“primary stereotypies,” associated with autistic spectrum disorder (ASD), intellectual disabilities, genetic syndromes, and sensory impairment]. …”
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    Developmental Profile and Diagnoses in Children Presenting with Motor Stereotypies
  7. 10687
    “…Mutations in OCRL1 cause the X-linked Dent disease type 2 (DD2; OMIM# 300555), characterized by low-molecular weight proteinuria, hypercalciuria, and the variable presence of cataracts, glaucoma and intellectual disability without structural brain anomalies. …”
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    Digenic mutations of human OCRL paralogs in Dent’s disease type 2 associated with Chiari I malformation
  8. 10688
    “…INTRODUCTION: Despite evidence of health inequalities for adults with intellectual disability (ID) there has yet to be a comprehensive review of how well hospital services are meeting the needs of children and young people (CYP) with ID and their families. …”
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    Pay More Attention: a national mixed methods study to identify the barriers and facilitators to ensuring equal access to high-quality hospital care and services for children and young people with and without learning disabilities and their families
  9. 10689
    “…At univariate analysis, any underlying brain disorder (any combination of intellectual disability, perinatal insult, pathologic neurologic examination, and brain structural abnormalities) and seizures in wakefulness were more frequent among the NTR group (p = 0.028; p = 0.043). …”
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    Sleep-related hypermotor epilepsy: Long-term outcome in a large cohort
  10. 10690
    “…BACKGROUND: Faculty departure can present significant intellectual costs to an institution. The authors sought to identify the reasons for clinical and non-clinical faculty departures at one academic medical center (AMC). …”
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    Reasons for faculty departures from an academic medical center: a survey and comparison across faculty lines
  11. 10691
    “…Outcome was defined as cognitive development (intellectual equivalent, IE) as measured using tests appropriate to the patients age and cognitive abilities (median age at testing 8.2 years, IQR 4.7–12.0). …”
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    Interdependence of clinical factors predicting cognition in children with tuberous sclerosis complex
  12. 10692
    “…Majority of the patients had joint contractures, severe intellectual disability, error of refraction, hearing loss and valvular regurgitation on subspecialists’ evaluation. …”
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    Clinical, biochemical and molecular characteristics of Filipino patients with mucopolysaccharidosis type II - Hunter syndrome
  13. 10693
    “…In addition, SeedUSoon includes functions to help the laboratory protect intellectual property, export data, and facilitate seed exchange between laboratories. …”
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    SeedUSoon: A New Software Program to Improve Seed Stock Management and Plant Line Exchanges between Research Laboratories
  14. 10694
    “…Pathogenic variants represented 91 genes implicated in hereditary cancer, X-linked intellectual disability, primary ciliary dyskinesia, Marfan syndrome/aortic aneurysms, cardiomyopathies and arrhythmias. …”
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    Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels
  15. 10695
    “…OBJECTIVE: N-methyl-D-aspartate receptors (NMDAR) subunit GRIN2A/GluN2A mutations have been identified in patients with various neurological diseases, such as epilepsy and intellectual disability / developmental delay (ID/DD). …”
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    A de novo loss-of-function GRIN2A mutation associated with childhood focal epilepsy and acquired epileptic aphasia
  16. 10696
    “…The SS and SF were examined in 40 boys with ASD, broad spectrum of intellectual abilities (63 < IQ < 127) and 44 typically developing (TD) boys, aged 6–15 years. …”
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    Abnormal Size-Dependent Modulation of Motion Perception in Children with Autism Spectrum Disorder (ASD)
  17. 10697
    “…BACKGROUND: Ring chromosome 14 syndrome is a rare chromosomal disorder characterized by early onset refractory epilepsy, intellectual disability, autism spectrum disorder and a number of diverse health issues. …”
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    Guideline recommendations for diagnosis and clinical management of Ring14 syndrome—first report of an ad hoc task force
  18. 10698
    “…RASopathies, characterized by germline mutations in genes encoding proteins of the RAS-ERK signaling pathway, show overlapping phenotypes, which manifest themselves with a varying severity of intellectual disability. However, it is unclear to what extent they share the same downstream pathophysiology that underlies the cognitive deficits. …”
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    Mechanisms underlying cognitive deficits in a mouse model for Costello Syndrome are distinct from other RASopathy mouse models
  19. 10699
    “…Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder often accompanied by intellectual disability, language impairment and medical co-morbidities. …”
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    Association of rare missense variants in the second intracellular loop of Na(V)1.7 sodium channels with familial autism
  20. 10700
    “…. • Advocacy for genomics and biotechnology for political leadership; • Networking between member states to share information, expertise, training, and regional cooperation in biotechnology; coordination of national surveys for assessment of health biotechnology innovation systems, science capacity, government policies, legislation and regulations, intellectual property policies, private sector activity; • Creation in each member country of an effective National Body on genomics, biotechnology and health to: - formulate national biotechnology strategies - raise biotechnology awareness - encourage teaching and training of biotechnology - devise integration of biotechnology within national health systems. …”
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    Harnessing genomics to improve health in the Eastern Mediterranean Region – an executive course in genomics policy
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