7,768 results match your criteria normal intellectual


Treating Comorbid Childhood Bipolar Disorder and ADHD.

CNS Spectr 2021 Apr;26(2):172

Neuropsychology Center of Louisiana, Baton Rouge, LA, USA.

Objectives: Pediatric mania is difficult to distinguish from childhood hyperactivity. Both share 3 common symptoms: distractibility, motoric hyperactivity, and talkativeness. Oftentimes, children are referred from their pediatrician due to a lack of appropriate response to stimulant medication. Read More

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Case Report: Adolescent With Autism and Gender Dysphoria.

Front Psychiatry 2021 26;12:671448. Epub 2021 May 26.

Center for Mental Health, University Psychiatric Clinic Ljubljana, Ljubljana, Slovenia.

There is increasing clinical evidence of an association between gender variability, gender dysphoria (GD), and autism spectrum disorder (ASD). This seems to be a two-way relationship, a person with GD is more likely to be diagnosed with ASD and vice versa. In youth, it is important to distinguish whether the presented symptoms are a manifestation of ASD focus on special interests or symptoms of co-occurring GD. Read More

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A Robust Incubator to Improve Access to Microbiological Culture in Low Resource Environments.

J Med Device 2019 Mar 22;13(1):0110071-110077. Epub 2019 Jan 22.

Intellectual Ventures Global Good Fund, Bellevue, WA 98007.

To help address the limitations of operating conventional microbiological culture incubators in low resource environments, a new incubator design was developed and tested to meet the requirements of operation in laboratories without reliable power (power outages up to 12 contiguous hours) or climate control (ambient indoor temperatures from 5 °C to 45 °C). The device is designed to enable adherence to incubation temperatures recommended for growth detection, identification, and drug susceptibility testing (DST) of human pathogenic bacteria. During power outages, stable temperatures are maintained in the device's internal sample compartment by employing phase change material (PCM) as a bi-directional thermal battery to maintain incubation temperature. Read More

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The Role of R-Ras Proteins in Normal and Pathologic Migration and Morphologic Change.

Am J Pathol 2021 Jun 7. Epub 2021 Jun 7.

Department of Pathology and Laboratory Medicine, Medical University of South Carolina, Charleston, SC 29425-9080. Electronic address:

The contributions that the R-Ras subfamily (R-Ras, R-Ras2/TC21 and M-Ras) of small GTP-binding proteins make to normal and aberrant cellular functions have historically been poorly understood. However, this has begun to change with the realization that all three R-Ras subfamily members are occasionally mutated in Noonan syndrome, a RASopathy characterized by the development of hematopoietic neoplasms and abnormalities affecting the immune, cardiovascular and nervous systems. Consistent with the abnormalities seen in Noonan syndrome, a host of new studies have implicated R-Ras proteins in physiologic and pathologic changes in cellular morphology, adhesion, and migration in the cardiovascular, immune, and nervous systems. Read More

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Deep Graph Learning for Circuit Deobfuscation.

Front Big Data 2021 24;4:608286. Epub 2021 May 24.

Computer Science, University of California, Davis, Davis, CA, United States.

Circuit obfuscation is a recently proposed defense mechanism to protect the intellectual property (IP) of digital integrated circuits (ICs) from reverse engineering. There have been effective schemes, such as satisfiability (SAT)-checking based attacks that can potentially decrypt obfuscated circuits, which is called deobfuscation. Deobfuscation runtime could be days or years, depending on the layouts of the obfuscated ICs. Read More

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Focal epilepsy due to de novo SCN1A mutation.

Epileptic Disord 2021 Jun 8. Epub 2021 Jun 8.

Service de Neurologie Pédiatrique, Hôpital Robert Debré, Paris, France, Université de Paris, INSERM U1141, F-75019, Paris, France.

Objective: Our aim was to identify patients with SCN1A-related epilepsy with a phenotype of pure focal epilepsy.

Methods: We conducted a retrospective study and a systematic review in Pubmed to identify patients with focal epilepsy associated with SCN1A pathogenic variants.

Results: We found three patients among 1,191 in our rare epilepsy database in 2017. Read More

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Identification of a novel variant p.Ser606Gly in SCN3A associated with childhood absence epilepsy.

Epilepsy Res 2021 Jun 2;175:106682. Epub 2021 Jun 2.

School of Basic Medical Sciences, Xinxiang Medical University, Xinxiang, China. Electronic address:

Sodium (Na) channels are the basis for action potential generation and propagation, which play a key role in the regulation of neuronal excitability. SCN3A is a gene encoding for sodium channel protein type 3 subunit alpha (or known as Nav1.3). Read More

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Diagnosis of Early Alzheimer's Disease: Clinical Practice in 2021.

J Prev Alzheimers Dis 2021 ;8(3):371-386

Sean Knox, MBChB. Biogen International GmBH, Neuhofstrasse 30, 6340 Baar, Switzerland. Phone: +41413921976; Email:

Alzheimer's disease is a progressive, irreversible neurodegenerative disease impacting cognition, function, and behavior. Alzheimer's disease progresses along a continuum from preclinical disease, to mild cognitive and/or behavioral impairment and then Alzheimer's disease dementia. Recently, clinicians have been encouraged to diagnose Alzheimer's earlier, before patients have progressed to Alzheimer's disease dementia. Read More

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January 2021

Is There Any Association Between Language Acquisition and Cognitive Development in Cochlear-Implanted Children?

J Int Adv Otol 2021 May;17(3):195-199

Neuromuscular Rehabilitation Research Centre, Rehabilitation College, Semnan University of Medical Sciences, Semnan, Iran.

Objective: Different studies on normal children and children with a sensory or intellectual disability indicate a strong correlation between the child's vocabulary domain and his cognitive abilities. Based on this, the main focus of the present study was to investigate the cognitive performance of cochlear-implanted children after a cognition-based language intervention program.

Methods: In this experimental study, 60 cochlear-implanted children were selected and randomly allocated into case and control groups. Read More

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Adjunctive use of the ketogenic diet in a young adult with UBE2A deficiency syndrome and super-refractory status epilepticus.

Epilepsy Behav Rep 2021 7;16:100456. Epub 2021 May 7.

Department of Neurology, Queen's Medical Centre, Nottingham, United Kingdom.

The ketogenic diet (KD) may have a role in treating super-refractory status epilepticus (SRSE). Predominantly used in paediatric epilepsy, there are few reports of its use in adults. We describe a 19-year-old man with UBE2A deficiency syndrome, drug resistant generalized epilepsy, and severe intellectual disability, who developed SRSE. Read More

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A Family With Novel X-Linked Recessive Homozygous Mutation in (c.628_629 del, p.1210fs∗) in Kallmann Syndrome Associated Unilateral Ptosis: Case Report and Literature Review.

AACE Clin Case Rep 2021 May-Jun;7(3):216-219. Epub 2021 Feb 17.

Student Research Committee, Alborz University of Medical Sciences, Karaj, Alborz, Iran.

Objective: Kallmann syndrome (KS) may be accompanied by anosmia or hyposmia and midline defects. We present an overweight 16-year-old boy with a lack of puberty, anosmia, congenital right eye ptosis, and normal intellectual function.

Methods: Testicular ultrasonography was performed. Read More

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February 2021

The relationship of semantic intrusions to different etiological subtypes of MCI and cognitively healthy older adults.

Alzheimers Dement (Amst) 2021 25;13(1):e12192. Epub 2021 May 25.

Center for Cognitive Neuroscience and Aging, Department of Psychiatry and Behavioral Sciences University of Miami Miller School of Medicine Miami USA.

Introduction: There is increasing evidence that susceptibility to proactive semantic interference (PSI) and the failure to recover from PSI (frPSI) as evidenced by intrusion errors may be early cognitive markers of both preclinical and prodromal Alzheimer's disease (AD).

Methods: One hundred forty-five participants were administered extensive clinical and neuropsychological evaluations including the Loewenstein-Acevedo Scales for Semantic Interference and Learning (LASSI-L), a sensitive cognitive stress test measuring PSI and frPSI. Participants also underwent structural magnetic resonance imaging (MRI) and amyloid positron emission tomography/computed tomography (PET/CT) imaging. Read More

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Correlation between the Bayley-III at 3 years and WISC-IV at 6 years.

Pediatr Int 2021 Jun 3. Epub 2021 Jun 3.

Division of Neonatology, Maternal and Perinatal Center, Toyama University Hospital, Japan.

Background: Although several studies have investigated the association between Bayley-III results in infancy and future intellectual development, conclusions remain unclear. We used the Bayley Scales of Infant and Toddler Development, Third Edition (Bayley-III) at 3 years of age and the Wechsler Intelligence Scale for Children, Fourth Edition (WISC-IV) at 6 years of age to assess the neurodevelopment of very low birth weight (VLBW) infants.

Methods: We investigated the correlation between Bayley-III's cognitive, language, and motor scores and the WISC-IV's Full-Scale Intelligence Quotient (FSIQ). Read More

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In-depth analysis reveals complex molecular aetiology in a cohort of idiopathic cerebral palsy.

Brain 2021 Jun 2. Epub 2021 Jun 2.

Laboratory of Medical Systems Biology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, 510623, Guangzhou, China.

Cerebral palsy is the most prevalent physical disability in children; however, its inherent molecular mechanisms remain unclear. In the present study, we performed in-depth clinical and molecular analysis on 120 idiopathic cerebral palsy families, and identified underlying detrimental genetic variants in 45% of these patients. In addition to germline variants, we found disease-related postzygotic mutations in approximately 6. Read More

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Changes in life experiences of adults with intellectual disabilities in the COVID-19 pandemics in South Korea.

Disabil Health J 2021 May 23:101120. Epub 2021 May 23.

Planning and Strategy Team, Anyang Gwanak Welfare Center for the Disabled, Anyang, Republic of Korea. Electronic address:

Background: The COVID-19 pandemic has had a significant impact on adults with intellectual disabilities who are dependent on community services.

Objective: This study explored the experiences of adults with intellectual disabilities from their perspective during the COVID-19 pandemic in South Korea, where most community-based services were suspended.

Methods: We conducted in-depth interviews with 15 adults with intellectual disabilities who lost access to services during COVID-19 pandemic. Read More

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The Role of ZEB2 in Human CD8 T Lymphocytes: Clinical and Cellular Immune Profiling in Mowat-Wilson Syndrome.

Int J Mol Sci 2021 May 18;22(10). Epub 2021 May 18.

The Kirby Institute for Infection and Immunity in Society, UNSW Sydney, Sydney, NSW 2052, Australia.

The gene encodes a transcription factor (ZEB2) that acts as an important immune mediator in mice, where it is expressed in early-activated effector CD8 T cells, and limits effector differentiation. homozygous knockout mice have deficits in CD8 T cells and NK cells. Mowat-Wilson syndrome (MWS) is a rare genetic disease resulting from heterozygous mutations in causing disease by haploinsufficiency. Read More

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Sedentary Time, Physical Activity Levels and Physical Fitness in Adults with Intellectual Disabilities.

Int J Environ Res Public Health 2021 05 10;18(9). Epub 2021 May 10.

Department of Physical Education, National Kaohsiung Normal University, Kaohsiung 802, Taiwan.

: This cross-sectional study assessed the associations of gender, age, level of intellectual disabilities (IDs) and of daily sedentary and physical activity (PA) time with physical fitness in adults with ID. : Sixty adults (mean age = 39.19 ± 11. Read More

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Development, Status Quo, and Challenges to China's Health Informatization During COVID-19: Evaluation and Recommendations.

J Med Internet Res 2021 Jun 17;23(6):e27345. Epub 2021 Jun 17.

Dong Fureng Institute of Economic and Social Development, Wuhan University, Beijing, China.

By applying advanced health information technology to the health care field, health informatization helps optimize health resource allocation, improve health care services, and realize universal health coverage. COVID-19 has tested the status quo of China's health informatization, revealing challenges to the health care system. This viewpoint evaluates the development, status quo, and practice of China's health informatization, especially during COVID-19, and makes recommendations to address the health informatization challenges. Read More

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CHL1 deletion is associated with cognitive and language disabilities - Case report and review of literature.

Mol Genet Genomic Med 2021 May 31:e1725. Epub 2021 May 31.

Department of Pathology and Laboratory Medicine, Division of Cytogenetics, University of Rochester Medical Center, Rochester, New York, USA.

Background: There is a small, but growing number of reports of pediatric patients with terminal deletions at 3p26.3 involving only the cell adhesion molecule L1-like (CHL1) gene that has been found to have language delays and intellectual disability. Here we report a one month of age patient who developed seizures and tone abnormalities, with persistent and prominent gross and fine motor delays. Read More

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CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity.

Epilepsia 2021 May 26. Epub 2021 May 26.

Department of Neuropediatrics, APHP Sorbonne University, Trousseau Hospital, Paris, France.

CSNK2B has recently been implicated as a disease gene for neurodevelopmental disability (NDD) and epilepsy. Information about developmental outcomes has been limited by the young age and short follow-up for many of the previously reported cases, and further delineation of the spectrum of associated phenotypes is needed. We present 25 new patients with variants in CSNK2B and refine the associated NDD and epilepsy phenotypes. Read More

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Biallelic variants in VPS50 cause a neurodevelopmental disorder with neonatal cholestasis.

Brain 2021 May 26. Epub 2021 May 26.

Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.

Golgi-associated retrograde protein (GARP) and endosome-associated recycling protein (EARP) complexes are membrane-tethering heterotetramers located at the trans-Golgi network and recycling endosomes, respectively. GARP and EARP share the three subunits VPS51, VPS52, and VPS53, while VPS50 is unique to EARP and VPS54 to GARP. Retrograde transport of endosomal cargos to the TGN is mediated by GARP and endocytic recycling by EARP. Read More

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Treatment for the Benign Childhood Epilepsy With Centrotemporal Spikes: A Monocentric Study.

Front Neurol 2021 6;12:670958. Epub 2021 May 6.

Department of Pediatrics, Xiangya Hospital, Central South University, Changsha, China.

To date, there is no specific treatment guideline for the benign childhood epilepsy with centrotemporal spikes (BECTS). Several countries recommend levetiracetam, carbamazepine, sodium valproate, oxcarbazepine, and lamotrigine as first-line drugs. Nevertheless, some of these drugs are associated with cognitive decline. Read More

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Phenylketonuria.

Nat Rev Dis Primers 2021 May 20;7(1):36. Epub 2021 May 20.

University of Amsterdam, Department of Pediatrics, Division of Metabolic Disorders, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands.

Phenylketonuria (PKU; also known as phenylalanine hydroxylase (PAH) deficiency) is an autosomal recessive disorder of phenylalanine metabolism, in which especially high phenylalanine concentrations cause brain dysfunction. If untreated, this brain dysfunction results in severe intellectual disability, epilepsy and behavioural problems. The prevalence varies worldwide, with an average of about 1:10,000 newborns. Read More

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De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder.

Am J Med Genet A 2021 May 18. Epub 2021 May 18.

Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.

TCF7L2 encodes transcription factor 7-like 2 (OMIM 602228), a key mediator of the evolutionary conserved canonical Wnt signaling pathway. Although several large-scale sequencing studies have implicated TCF7L2 in intellectual disability and autism, both the genetic mechanism and clinical phenotype have remained incompletely characterized. We present here a comprehensive genetic and phenotypic description of 11 individuals who have been identified to carry de novo variants in TCF7L2, both truncating and missense. Read More

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Parent Questionnaires in the Evaluation of Pre-School Children Referred for Neuropsychiatric Assessment.

Authors:
Mats Cederlund

J Autism Dev Disord 2021 May 18. Epub 2021 May 18.

NU Hospital Organisation in Trollhättan, Trollhättan, Sweden.

One-hundred twenty-four pre-school children referred for assessment to a neuropsychiatric team were included in this study of the Autism Behavior Checklist (ABC), ESSENCE-Q, and Conners Abbreviated Parent-Teacher Rating Scale (CAPRS). All three questionnaires showed a good correlation towards severity of symptoms in ASD. The ABC questionnaire was, as has been shown in earlier research less accurate in identifying individuals with ASD having an IQ within the normal range. Read More

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Kidins220 deficiency causes ventriculomegaly via SNX27-retromer-dependent AQP4 degradation.

Mol Psychiatry 2021 May 17. Epub 2021 May 17.

Instituto de Investigaciones Biomédicas "Alberto Sols", Consejo Superior de Investigaciones Científicas-Universidad Autónoma de Madrid (CSIC-UAM), Madrid, Spain.

Several psychiatric, neurologic and neurodegenerative disorders present increased brain ventricles volume, being hydrocephalus the disease with the major manifestation of ventriculomegaly caused by the accumulation of high amounts of cerebrospinal fluid (CSF). The molecules and pathomechanisms underlying cerebral ventricular enlargement are widely unknown. Kinase D interacting substrate of 220 kDa (KIDINS220) gene has been recently associated with schizophrenia and with a novel syndrome characterized by spastic paraplegia, intellectual disability, nystagmus and obesity (SINO syndrome), diseases frequently occurring with ventriculomegaly. Read More

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Normal cognitive test scores cannot be interpreted as accurate measures of ability in the context of failed performance validity testing: A symptom- and detection-coached simulation study.

J Clin Exp Neuropsychol 2021 May 16:1-9. Epub 2021 May 16.

Department of Psychiatry & Behavioral Sciences, University of Kansas School of Medicine - Wichita, Wichita, KS, USA.

While use of performance validity tests (PVTs) has become a standard of practice in neuropsychology, there are differing opinions regarding whether to interpret cognitive test data when standard scores fall within normal limits despite PVTs being failed. This study is the first to empirically determine whether normal cognitive test scores underrepresent functioning when PVTs are failed. Participants, randomly assigned to either a simulated malingering group ( = 50) instructed to mildly suppress test performances or a best-effort/control group ( = 50), completed neuropsychological tests which included the North American Adult Reading Test (NAART), California Verbal Learning Test - 2 Edition (CVLT-II), and Test of Memory Malingering (TOMM). Read More

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A Case Report of a Prenatally Missed Mowat-Wilson Syndrome With Isolated Corpus Callosum Agenesis.

Child Neurol Open 2021 Jan-Dec;8:2329048X211006511. Epub 2021 Apr 23.

Department of Radiology, Kırıkkale University Faculty of Medicine, Kırıkkale, Turkey.

Mowat-Wilson syndrome (MWS) is an autosomal dominant genetic disorder caused by ZEB2 gene mutations, manifesting with unique facial characteristics, moderate to severe intellectual problems, and congenital malformations as Hirschsprung disease, genital and ophthalmological anomalies, and congenital cardiac anomalies. Herein, a case of 1-year-old boy with isolated agenesis of corpus callosum (IACC) in the prenatal period is presented. He was admitted postnatally with Hirschsprung disease (HSCR), hypertelorism, uplifted earlobes, deeply set eyes, frontal bossing, oval-shaped nasal tip, ''M'' shaped upper lip, opened mouth and prominent chin, and developmental delay. Read More

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Cell-Type Specific Changes in DNA Methylation of Intron 1 in Synucleinopathy Brains.

Front Neurosci 2021 28;15:652226. Epub 2021 Apr 28.

Division of Translational Brain Sciences, Department of Neurology, Duke University Medical Center, Durham, NC, United States.

Parkinson's disease (PD) and dementia with Lewy body (DLB) are the most common synucleinopathies. gene is a major genetic risk factor for these diseases group, and dysregulation of its expression has been implicated in the genetic etiologies of several synucleinopathies. DNA methylation at CpG island (CGI) within intron 1 has been suggested as a regulatory mechanism of expression, and changes in methylation levels at this region were associated with PD and DLB. Read More

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