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Yang Jianying J From the*Division of Rheumatology, Department of Medicine, University of Minnesota, Minneapolis, MN; and †Cancer Genetics Branch, ‡Medical Genetics Branch, and §Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, - - 2014
Smith-Magenis syndrome (SMS) is a sporadic congenital disorder involving multiple organ systems caused by chromosome 17p11.2 deletions. Smith-Magenis syndrome features craniofacial and skeletal anomalies, cognitive impairment, and neurobehavioral abnormalities. In addition, some SMS patients may exhibit hypogammaglobulinemia. We report the first case of SMS-associated autoimmunity in a woman who presented ...
Vona Barbara - - 2014
Terminal deletions of chromosome 4q are associated with a broad spectrum of phenotypes including cardiac, craniofacial, digital, and cognitive impairment. The rarity of this syndrome renders genotype-phenotype correlation difficult, which is further complicated by the widely different phenotypes observed in patients sharing similar deletion intervals. Herein, we describe a boy ...
Henry George K GK a Los Angeles Neuropsychology Group , CA , - - 2014
Stevens-Johnson Syndrome (SJS) and toxic epidermal necrolysis (TEN) is a potentially life-threatening critical illness affecting multiple organ systems including the peripheral and central nervous system. This case report involves a young man who was diagnosed with SJS/TEN at age 16 and underwent neuropsychological assessment at age 21. Results indicate a ...
Breia Paula P Department of Neurology. Hospital Garcia de Orta. Almada. - - 2014
Introduction: Down syndrome or Trisomy 21 affects physical, behavioral and cognitive development. Ageing people with Down syndrome may suffer from several comorbidities that interfere with their daily life. Objective: To analyze in a sample of adults with Down syndrome the presence of common medical diseases, regular use of medication, possible ...
Lai Chiou-Lian CL Department of Master's Program in Neurology, Faculty of Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan; Department of Neurology, Kaohsiung Medical University Hospital, Kaohsiung, - - 2014
The combined effects of metabolic syndrome and the apolipoprotein E and CYP46 genotypes on the risk of cognitive decline has yet to be determined among Taiwanese Chinese. Two hundred and nine mentally healthy middle-aged and older adults were assessed for metabolic syndrome, cognitive function using the Cognitive Abilities Screening Instrument, ...
Burrell James R JR Neuroscience Research Australia, Sydney, Australia; University of New South Wales, Sydney, - - 2014
Corticobasal syndrome (CBS) and progressive supranuclear palsy (PSP) represent challenging neurodegenerative disorders for clinicians and nonclinical scientists alike. Although initially lumped together as "Parkinson's-Plus" syndromes, CBS and PSP are clinically and pathologically distinct from Parkinson's disease. It is now clear that behavioral and cognitive changes are common in both syndromes ...
van Baarsen Kirsten Margaretha KM Department of Neurosurgery, Radboud University Medical Hospital, Huispostnummer 636, Geert Grooteplein-Zuid 10, 6525 GA Nijmegen, The Netherlands. Electronic address: - - 2014
Up to 39% of children operated for a posterior fossa tumor develop the cerebellar mutism syndrome. Although they are alert and cooperative, with normal language comprehension, they are unable to speak. In addition, patients may demonstrate apathy, bladder and bowel incontinence and long-term language and cognitive disturbances. This devastating syndrome ...
Hagerman Randi J RJ Department of Pediatrics and MIND Institute, School of Medicine, University of California, - - 2014
Fragile X syndrome is an inherited disease with cognitive, behavioral, and neurologic manifestations, resulting from a single genetic mutation. A variety of treatments that target individual symptoms of fragile X syndrome are currently utilized with limited efficacy. Research in animal models has resulted in the development of potential novel pharmacologic ...
Guedj Fayçal F aMother Infant Research Institute, Tufts Medical Center and the Floating Hospital for Children, Boston, Massachusetts, USA bUniv Paris Diderot, Sorbonne Paris Cité, CNRS UMR 8251, Adaptive Functional Biology, Paris, - - 2014
Down syndrome affects more than 5 million people globally. During the last 10 years, there has been a dramatic increase in the research efforts focused on therapeutic interventions to improve learning and memory in Down syndrome. This review summarizes the different functional abnormalities targeted by researchers in mouse models of ...
Valenti Daniela D Institute of Biomembranes and Bioenergetics, National Council of Research, Bari, - - 2014
Clinical manifestations typical of mitochondrial diseases are often present in various genetic syndromes associated with intellectual disability, a condition leading to deficit in cognitive functions and adaptive behaviors. Until now, the causative mechanism leading to intellectual disability is unknown and the progression of the condition is poorly understood. We first ...
Breinis Paulo - - 2014
The Mulvihill-Smith Syndrome was first recognized in 1975. After the recognition of the Mulvihill-Smith Syndrome, ten cases have been described. This article describes the eleventh case of this syndrome in a male patient, 24 years-old with short stature and microcephaly with mild cognitive impairment, deafness and allergic conjunctivitis. The patient ...
Carr Frances F Department of Geriatrics, University of Alberta, Edmonton, Alberta, - - 2014
A 64-year-old woman presented to our clinic with a 4-year history of cognitive decline. The clinical examination revealed an incidental finding of the 'SAPHO' (Synovitis Acne Pustulosis Hyperostosis Osteitis) syndrome which was subsequently confirmed by diagnostic imaging. Owing to her classical presentation and her asymptomatic status she was managed conservatively ...
Philip Rajeev R Department of Endocrinology, LLRM Medical College, Meerut, Uttar Pradesh, - - 2014
Hashimoto's encephalopathy (HE) is a rare steroid-responsive encephalopathy syndrome, which can have highly variable neuropsychiatric manifestations and can go unrecognized for a long time. HE is a diagnosis of exclusion and should be kept in mind when evaluating a patient with a cognitive dysfunction and high titers of anti-thyroid antibodies ...
Egger Jos I M JI Vincent van Gogh Institute for Psychiatry, Centre of Excellence for Neuropsychiatry, Venray, the Netherlands ; Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen, Nijmegen, the Netherlands ; Behavioural Science Institute, Radboud University Nijmegen, Nijmegen, the - - 2014
The 16p11.2 microdeletion syndrome is characterized by a wide range of phenotypic expressions and is frequently associated with developmental delay, symptoms from the autism spectrum, epilepsy, congenital anomalies, and obesity. These phenotypes are often related to a proximal 16p11.2 deletion of approximately 600 kb (BP4-BP5) that includes the SH2B1 gene ...
Miglis Mitchell G MG Stanford University Sleep Medicine Division, Stanford Outpatient Medical Center, Redwood City, CA, - - 2014
Kleine-Levin syndrome is a recurrent hypersomnia associated with symptoms of hyperphagia, hypersexuality, and cognitive impairment. This article reviews the current available research and describes common clinical symptoms, differential diagnosis, and acceptable workup and treatment. Although deficits have traditionally been thought to resolve between episodes, functional imaging studies and long-term neuropsychological ...
Malakooti Nakisa N Oxidation Biology Unit, Florey Institute of Neuroscience and Mental Health Parkville, VIC, - - 2014
Down syndrome (DS), caused by trisomy of whole or part of chromosome 21 is the most common mental impairment. All people with DS suffer from cognitive decline and develop Alzheimer's disease (AD) by the age of 40. The appearance of enlarged early endosomes, followed by Amyloid βpeptide deposition, the appearance ...
Kavurt S - - 2014
Down syndrome (DS), trisomy 21, is the most common numerical chromosome abnormality among live born infants. Dysmorphic features, congenital malformations, cognitive impairment are major features. Musculoskeletal anomalies are associated with abnormal collagen function. Ectrodactyly is characterized by a deep median cleft of the hand and/or foot. Failure of apical ectodermal ...
Meng Linyan L Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of - - 2013
Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by maternal deficiency of the imprinted gene UBE3A. Individuals with AS suffer from intellectual disability, speech impairment, and motor dysfunction. Currently there is no cure for the disease. Here, we evaluated the phenotypic effect of activating the silenced paternal allele of ...
Synofzik Matthis M From the Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research (M.S.), German Research Center for Neurodegenerative Diseases (DZNE) (M.S.), and Department of Neuroradiology (T.L.), University of Tübingen, Germany; Departments of Pediatrics, Neurology, and Neurosurgery (G.B.), Montreal Children's Hospital, McGill University Heath Center, Canada; and the Department of Pediatric and Developmental Neurology (J.G.-A.), University Children's Hospital, Tübingen, - - 2013
An 18-year-old German woman presented with progressive cerebellar ataxia since early childhood, delayed cognitive development, and hypogonadotropic hypogonadism. MRI demonstrated diffuse cerebral hypomyelination, cerebellar atrophy, and thin corpus callosum; X-ray revealed persistent milk teeth and hypoplastic crowns and roots (figure), indicative of 4H syndrome (hypomyelination, hypodontia, hypogonadotropic hypogonadism). POLR3B sequencing(1) ...
Almuqbil Mohammed - - 2013
We present the case of a child with mild non-syndromic intellectual disability in whom array genomic hybridization revealed a de novo heterozygous deletion involving only one gene, FMN2. FMN2 encodes FORMIN-2, a member of the formin homology family, which is primarily expressed in the developing and mature brain, and has ...
Linhares Ferrazzo Kívia - - 2013
Triple X syndrome (47,XXX) is a numerical chromosomal alteration that affects 1/1,000 women, in which the woman is born with an extra X chromosome. Some oral changes have been reported in the literature, as hypodontia, influence on deposition of crown enamel and discrepancies in cephalometric measurements. Other systemic complications may ...
Kover Sara T - - 2013
This longitudinal study was designed to investigate trajectories of nonverbal cognitive ability in adolescents with fragile X syndrome with respect to the relative influence of fragile X mental retardation protein (FMRP), autism symptom severity, and environmental factors on visualization and fluid reasoning abilities. Males and females with fragile X syndrome ...
Riser Rebecca E RE Department of Psychology, Rosalind Franklin University of Medicine and - - 2013
Antisocial personality disorder (ASPD) and psychopathy are 2 important syndromes with substantial utility in predicting antisocial behavior. Although prior studies have identified correlations between various factors and the presence of psychopathy or ASPD, most studies have focused on 1 syndrome or the other. Consequently, it is unclear whether the 2 ...
Chang Karen T - - 2013
Intellectual disability is characterized by significantly impaired cognitive abilities and is due to various etiological factors, including both genetic and non-genetic causes. Two of the most common genetic forms of intellectual disability are Fragile X syndrome (FXS) and Down syndrome (DS). Recent studies have shown that proteins altered in FXS ...
Città Santina - - 2013
The 3q29 microdeletion syndrome is a rare, recurrent genomic disorder, associated with a variable phenotype, despite the same deletion size, consisting in neurodevelopmental features, such as intellectual disability (ID), schizophrenia, autism, bipolar disorder, depression and mild facial morphological anomalies/congenital malformations. A thorough neuropsychiatric evaluation has never been reported in patients ...
Mathis Chester A - - 2013
In this issue of Neuron, Maruyama et al. (2013) demonstrate the binding of a new class of selective tau ligands, termed PBBs, to tau deposits in transgenic mice and in human subjects with normal cognition, Alzheimer's disease, or a corticobasal syndrome.
Rawle Mark J MJ Cognitive Function Clinic, Walton Centre for Neurology and Neurosurgery, Liverpool, - - 2013
One member of a pedigree with NARP syndrome (neurogenic weakness, ataxia, and retinitis pigmentosa), a mitochondrial disorder due to a point mutation at position 8993 in the mitochondrial genome ATPase 6 gene, was reevaluated some 20 years after first being reported in the medical literature. Initially assessed at age 39 ...
Han C S - - 2013
Correlated suites of behaviours, or behavioural syndromes, appear to be widespread, and yet few studies have explored how they arise and are maintained. One possibility holds that correlational selection can generate and maintain behavioural syndrome if certain behavioural combinations enjoy greater fitness than other combinations. Here we test this correlational ...
Fernandez Fabian F Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, - - 2013
We propose that sleep disruption is a lever arm that influences how cognition emerges in development and then declines in response to Alzheimer disease in people with Down syndrome. Addressing sleep disruptions might be an overlooked way to improve cognitive outcomes in this population. This article is a contribution to ...
Ribeiro-Bicudo L A - - 2013
The 22q11.2 duplication syndrome has been recently characterized as a new entity with features overlapping the 22q11.2 deletion syndrome. Most 22q11.2 duplications represent reciprocal events of the typical 3-Mb deletions extending between low copy repeat (LCR) 22-A and LCR22-D. It has been suggested that the clinical manifestations observed in patients ...
Kleinschmidt Andreas - - 2013
The aim is to assess whether the recent surge in brain 'connectivity' studies has improved our understanding of neurological deficits and in particular so-called disconnection syndromes. Across a large variety of brain diseases, functional connectivity measures obtained from 'resting state' studies show alterations in distributed neural networks that may be ...
Ruparelia Aarti - - 2013
Down syndrome (DS) is one of many causes of intellectual disability (ID), others including but not limited to, fetal alcohol syndrome, Fragile X syndrome, Rett syndrome, Williams syndrome, hypoxia, and infection. Down syndrome is characterized by a number of neurobiological problems resulting in learning and memory deficits and early onset ...
Schneider Andrea - - 2013
Cognitive and behavioral correlates of molecular variations related to the FMR1 gene have been studied rather extensively, but research about the long-term outcome in individuals with fragile X spectrum disorders remains sparse. In this review, we present an overview of aging research and recent findings in regard to cellular and ...
Sbrana Francesco - - 2013
A case of chylomicronemia syndrome is reported in a 72-year-old male with distinctive features of chronic pancreatic damage, severe hypertriglyceridemia, polidistrectual atherosclerosis and premature cognitive impairment. Although the patient had a positive history for recurrent episodes of pancreatitis the characteristic lesions of the hyperchylomicronemia syndrome, such as eruptive xanthomas and ...
Vandewalle Joke - - 2013
Loss-of-function mutations in several different neuronal pathways have been related to intellectual disability (ID). Such mutations often are found on the X chromosome in males since they result in functional null alleles. So far, microdeletions at Xq24 reported in males always have been associated with a syndromic form of ID ...
Baertling Fabian - - 2013
Leigh syndrome is a devastating neurodegenerative disease, typically manifesting in infancy or early childhood. However, also late-onset cases have been reported. Since its first description by Denis Archibald Leigh in 1951, it has evolved from a postmortem diagnosis, strictly defined by histopathological observations, to a clinical entity with indicative laboratory ...
Nouioua S - - 2013
We report two sisters, aged 11 and 6years, with AGAT deficiency syndrome (OMIM 612718) which is the least common creatine deficiency syndrome. They were born full-term to consanguineous parents and had moderate developmental delay. Examination showed an important language delay, a progressive proximal muscular weakness in the lower limbs with ...
Spengler S - - 2013
Microdeletions in 16q24.3 are associated with intellectual disability and a specific phenotype, e.g. short stature and a prominent forehead. The 16q24.3 microdeletion syndrome shows a broad phenotypic overlap with the KBG syndrome, which is caused by mutations within the ANKRD11 gene. Furthermore, both KBG and the 16q24.3 microdeletion syndromes show ...
Ardila Alfredo - - 2013
Regardless of the significant interest in comparing neuropsychological syndromes across cultures, little interest is observed in comparing these syndromes across time. Most of the neuropsychological syndromes were described during the late nineteenth and early twentieth century (e.g., aphasia, alexia, agraphia, acalculia, etc.). However, living conditions have so dramatically changed during ...
Grynspan David - - 2013
Abstract Smith-Lemli-Opitz Syndrome is a complex genetic disorder with characteristic dysmorphology as well as neurodevelopmental and cognitive difficulties. We discuss a recent autopsy case that showed severe hippocampal hypoplasia.
Jandt Jennifer M - - 2013
Animal personalities or behavioural syndromes are consistent and/or correlated behaviours across two or more situations within a population. Social insect biologists have measured consistent individual variation in behaviour within and across colonies for decades. The goal of this review is to illustrate the ways in which both the study of ...
Netto Tania M - - 2013
This systematic review described the criteria and main evaluations methods procedures used to classify neuropsychiatric systemic lupus erythematosus (NPSLE) patients. Also, within the evaluations methods, this review aimed to identify the main contributions of neuropsychological measurements in neuroimaging studies. A search was conducted in PubMed, EMBASE and SCOPUS databases with ...
Calculator Stephen N - - 2013
The primary purpose of this investigation was to enhance our understanding of AAC use by individuals with Angelman syndrome (AS) in relation to two broad genotypes: Deletion Positive (DP) and Non Deletion (ND). Previous investigators have suggested individuals without deletions typically exhibit stronger cognitive and communicative abilities than their DP ...
Rose Susan A - - 2013
AIM: The aim of this study was to examine attention and recognition memory for faces and patterns in Rett syndrome, a severely disabling neurodevelopmental disorder caused by mutations in the X-linked MECP2 gene. METHOD: Because Rett syndrome impairs speech and hand use, precluding most neuropsychological testing, the visual paired-comparison paradigm ...
Costanzo Floriana - - 2013
Executive functions are a set of high cognitive abilities that control and regulate other functions and behaviors and are crucial for successful adaptation. Deficits in executive functions are frequently described in developmental disorders, which are characterized by disadaptive behavior. However, executive functions are not widely examined in individuals with intellectual ...
Busch Robyn M - - 2013
Purpose:We sought to characterize cognition in individuals with germline PTEN mutations (n = 23) as well as in PTEN mutation-negative individuals with classic Cowden syndrome or Bannayan-Riley-Ruvalcaba syndrome (n = 2).Methods:Twenty-five individuals completed a comprehensive neuropsychological evaluation. One sample t-tests and effect sizes were used to examine differences in participant ...
Baker Steven Andrew - - 2013
Mutations in the X-linked MECP2 cause Rett syndrome, a devastating neurological disorder typified by a period of apparently normal development followed by loss of cognitive and psychomotor skills. Data from rare male patients suggest symptom onset and severity can be influenced by the location of the mutation, with amino acids ...
Han Joan C - - 2013
In animal studies, brain-derived neurotrophic factor (BDNF) is an important regulator of central nervous system development and synaptic plasticity. WAGR (Wilms tumour, Aniridia, Genitourinary anomalies, and mental Retardation) syndrome is caused by 11p13 deletions of variable size near the BDNF locus and can serve as a model for studying human ...
De Clemente V - - 2013
Aim: Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive congenital malformation syndrome caused by an inborn error of cholesterol biosynthesis. The incidence is around 1:20000-1:70000. SLOS phenotype is very broad: severe phenotypes show exitus in perinatal period while milder phenotypes only show behavioral and learning problems. The purpose of this study ...
Zhang Hong - - 2013
To evaluate the therapeutic effect of scalp electroacupuncture for mild cognitive impairment (MCI) in the early stage. Two hundred and thirty three MCI patients were randomly divided into three groups: the drug group, the scalp electroacupuncture group, and the syndrome differentiation group. For the scalp electroacupuncture group, the points of ...
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