“…Missense mutations T166M, Q242L, T336M, and Y474C in the GABA(A) receptor (GABA(A)R) α3 subunit gene are associated with epileptic seizures, dysmorphic features, intellectual disability, and developmental delay. When incorporated into GABA(A)Rs expressed in oocytes, all mutations are known to reduce GABA-evoked whole-cell currents. …”
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“…BACKGROUND: Children with medulloblastoma cannot avoid chemoradiotherapy including craniospinal radiation, although prognosis of medulloblastoma has improved and previous studies have reported a significant risk of intellectual disturbance by these treatments. We retrospectively analysed neurocognitive functions, clinical MRI parameters of patients with posterior fossa tumors, especially medulloblastomas. …”
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“…This study aimed to evaluate intellectual and psychological benefit of short-acting methylphenidate to survivors of brain tumour. …”
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“…Beyond the core symptoms, autism has strong association with other disorders such as intellectual disability (ID), epilepsy, schizophrenia among many others. …”
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“…We defined SDD as: (1) autism, intellectual disability, learning disorder, epilepsy with seizures, attention deficit disorder/attention deficit hyperactivity disorder, or cerebral palsy; requiring (2) qualification for services and serious lasting impairment evidence. …”
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“…Some of the challenges experienced by the researchers include development of appropriate tools with questions on sensitive SRHR topics, obtaining informed consent, difficulty to maintain privacy while exploring sensitive SRHR issues and communication difficulties when interviewing individuals with intellectual and sensory impairments. The mitigation strategies include iterative revisions of all tools based on multiple pretests in different filed sites and expert feedback, strategic rapport building and maintaining appropriate contextual etiquette while conducting the interviews. …”
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“…Each applicant undergoes a detailed workup to ascertain the diagnosis, and the mental disability is assessed using Indian Disability Evaluation and Assessment Scale (IDEAS). Those with intellectual developmental disorder (IDD) are assessed by a clinical psychologist for quantifying intelligence quotient, based on which the disability certificate is issued. …”
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“…Genetic variants linked to epilepsy and intellectual disability disrupt synaptic function and neural excitability. …”
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“…Intellectual contribution in the form of authorship is a fundamental component of the academic career. …”
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“…Would time-idea studies revolutionize the rules of intellectual/creative work this century? Collaborating with seven professional dancers, we set out to discover if there were any significant temporal patterns to be found in a timeline coded to show when dancers come up with ideas and when they modify or reject them. …”
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“…Byington, MD, BioFire (Other Financial or Material Support, Royalties for Intellectual Property)IDbyDNA (Advisor or Review Panel member) Krow Ampofo, MBChB, Merck (Grant/Research Support)…”
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“…They refer to impairments of working memory, executive functions and attention, while global intellectual efficiency is later reduced.…”
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“…We integrated a new PROM for transition-age youth with intellectual and/or developmental disabilities (IDD), the Pediatric Evaluation of Disability Inventory–Patient-Reported Outcome (PEDI–PRO), with a computer-delivered survey platform (Accessible Testing Learning and Assessment System) to enhance cognitive accessibility. …”
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“…Other family members were tested and the patient's mother, who has a history of mild intellectual disability, as well as a daughter born later, were identified as carriers. …”
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“…Fragile X syndrome (FXS) with lack of fragile X mental retardation protein (FMRP) protein is an inherited disorder that is characterized by moderate or severe intellectual and developmental disabilities. Previous studies reported that FXS patients have self-injurious behavior, which may be associated with deficits in nociceptive sensitization. …”
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“…BACKGROUND: Iodine deficiency is the world's major cause of preventable intellectual impairment, and nearly 2 billion people are at risk of iodine deficiency worldwide. …”
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“…CCDS are characterized by brain creatine deficiency, intellectual disability with severe speech delay, behavioral troubles such as attention deficits and/or autistic features, and epilepsy. …”
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“…Genetic defects of zdhhc15 were implicated in intellectual disability and behavioral anomalies in humans. …”
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“…It is characterized by variable clinical symptoms such as deformity of the head, face, hands and feet, eye abnormalities, abdominal obesity, neutropenia and nonprogressive intellectual disability. The typical lesions in the eyeball in Cohen syndrome include high myopia, retinal dystrophy, strabismus, maculopathy and lens subluxation. …”
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“…SHANK2 mutations have been identified in individuals with neurodevelopmental disorders, including intellectual disability and autism spectrum disorders (ASD). …”
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