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.

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 ...

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 ...

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 ...

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 ...

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 ...

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 ...

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 ...

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 ...

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 ...

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 ...

BACKGROUND: There is a gap in the systematic description and investigation of functional disability in corticobasal syndrome (CBS) and progressive supranuclear palsy (PSP). Additionally, the relations between disability, apraxia, cognitive and behavioural changes are not well understood in atypical parkinsonian syndromes. METHODS: Fifty patients were included in this study (CBS = 18; ...

Intellectual disability (ID) is one of the many features manifested in various genetic syndromes leading to deficits in cognitive function among affected individuals. ID is a feature affected by polygenes and multiple environmental factors. It leads to a broad spectrum of affected clinical and behavioral characteristics among patients. Until now, ...

Although development of the full syndrome of kernicterus is relatively rare, neonatal jaundice continues to occur frequently. Controversy remains concerning whether or not infants with moderate elevations in bilirubin are at risk for neurodevelopmental disorders in later childhood. Sites of brain pathology associated with bilirubin neurotoxicity are identified and well ...

Williams syndrome (WS) is a neurodevelopmental genetic disorder with a prevalence of approximately 1 in 7500. It is caused by a hemizygous deletion of approximately 28 genes on the 7th chromosome (7q11.23), including the elastin allele. Individuals with WS have atypical facial characteristics, including medial eyebrow flair, epicanthal folds, upturned ...

Charles Bonnet syndrome occurs in visually impaired but cognitively normal individuals. This report describes a condition of vivid visual hallucination (phantom images) in an 85-year-old conscious man, who had been blind by bilateral progressively worsening glaucoma. This common, but rarely reported, condition was managed by behavioral approach of repeated blinking, ...

Triple A syndrome is an autosomal recessive disorder characterized by the triad of adrenocorticotropic hormone resistant adrenal insufficiency, achalasia, and alacrima. Our aim was to describe the neuropsychological characteristics and the cooccurring psychopathological and neurological disorders in an Italian male child suffering from Triple A syndrome at the time of ...

To investigate the association of the hypotensive syndromes orthostatic hypotension (OH), postprandial hypotension (PPH), and carotid sinus hypersensitivity (CSH) with cognitive impairment (mild cognitive impairment/dementia). Continuous measurements of blood pressure (Finapres) were performed during active standing, meal test, and carotid sinus massage, among 184 elderly patients presenting with falls. Mild ...

For a disorder as common as fragile X syndrome, the most common hereditary form of cognitive impairment, the facial features are relatively ill defined. An elongated face and prominent ears are the most commonly accepted dysmorphic hallmarks. We analysed 3D facial photographs of 51 males and 15 females with full ...

Alterations in the X-linked gene MECP2 encoding the methyl-CpG-binding protein 2 have been linked to autism spectrum disorders (ASDs). Most recently, data suggest that overexpression of MECP2 may be related to ASD. To better characterize the relevance of MECP2 overexpression to ASD-related behaviors, we compared the core symptoms of ASD ...

The 17q21.31 microdeletion syndrome with its characteristic features including developmental delay, moderate intellectual disability, facial dysmorphisms, and anomalies of the brain and multiple organ systems was recently described. As to its behavioral profile, scarce data from clinical observations have suggested a remarkably amiable, friendly disposition, to some extent comparable to ...

The locked-in syndrome (LiS) is typically characterized by a paralysis of almost all body muscles combined with intact cognitive functions. In practice, there are often additional brain damages besides the one directly causing LiS. These damages can lead to cognitive impairment, which substantially complicates the diagnosis of LiS. At the ...

Attentional problems are commonly reported as a feature of the behavioural profile in both Williams syndrome (WS) and Down's syndrome (DS). Recent studies have begun to investigate these impairments empirically, acknowledging the need for an approach that considers cross-syndrome comparisons and developmental changes across the different component functions of attention. ...

Context:Recently, new clinically important information regarding Klinefelter syndrome (KS) has been published. We review aspects of epidemiology, endocrinology, metabolism, body composition, and neuropsychology with reference to recent genetic discoveries.Evidence Acquisition:PubMed was searched for "Klinefelter," "Klinefelter's," and "XXY" in titles and abstracts. Relevant papers were obtained and reviewed, as well as ...

Wernicke-Korsakoff syndrome (WKS) is a well described syndrome of neurological and cognitive problems that comprises both Wernicke's encephalopathy (WE) and Korsakoff syndrome (KS). WE is an acute neuropsychiatric disorder caused by thiamine deficiency. KS is a chronic consequence of thiamine deficiency with prominent impairment in memory formation. The authors review ...

Down syndrome is the most common form of intellectual disability and results from one of the most complex genetic perturbations that is compatible with survival, trisomy 21. The study of brain dysfunction in this disorder has largely been based on a gene discovery approach, but we are now moving into ...

A 7-year-old boy with acquired immunodeficiency syndrome, receiving antiretroviral drugs for 2 years, presented with a recent onset of myoclonic jerks and cognitive deterioration. On examination, he manifested myoclonic jerks once every 10-15 seconds. His electroencephalogram indicated periodic complexes, and his cerebrospinal fluid tested positive for measles antibodies.

Herbs and spices have been used since ancient times to not only improve the flavor of edible food but also to prevent and treat chronic health maladies. While the scientific evidence for the use of such common herbs and medicinal plants then had been scarce or lacking, the beneficial effects ...

Kleine-Levin syndrome (KLS) is a disorder characterized by recurrent episodes of hypersomnia associated with perception, cognitive, and behavioral disturbances, such as hyperphagia and hypersexuality.(1) Episodes are separated by intervals of normal alertness, cognition, and behavior. Primary KLS predominantly affects adolescent males, with a prevalence of 2-10 per million, although this ...

BACKGROUND: Marinesco-Sjögren syndrome is an autosomal recessive cerebellar ataxia, characterised by cerebellar ataxia, myopathy, cataracts and intellectual disability, due to mutations in the SIL1 gene. METHODS: The clinical features and two novel SIL1 mutations of four Dutch patients with Marinesco-Sjögren syndrome are described and compared to the literature on genetically ...

With the exception of a few model species, individual differences in cognition remain relatively unstudied in non-human animals. One intriguing possibility is that variation in cognition is functionally related to variation in personality. Here, we review some examples and present hypotheses on relationships between personality (or behavioural syndromes) and individual ...

Ataxia is a symptom of cerebellar dysfunction. Slowly progressive ataxia, dysarthria in an adult with a positive family history suggests an inherited cerebellar ataxia. We present an adult with gradually progressive ataxia and slow saccades. There was history of similar illness in his son. Genetic testing for spinocerebellar ataxia 2 ...

A growing number of progressive heredodegenerative conditions mimic the presentation of Huntington's disease (HD). Differentiating among these HD-like syndromes is necessary when a patient with a combination of movement disorders, cognitive decline, behavioural abnormalities and progressive disease course proves negative to the genetic testing for HD causative mutations, that is, ...

Patients with inherited cardiac channel disorders are at high risk of perioperative lethal arrhythmias. Preoperative control of symptoms and a multidisciplinary approach are required for a well-planned management. Good haemodynamic monitoring, adequate anaesthesia and analgesia, perioperative maintenance of normocarbia, normothermia, and normovolaemia are important. In congenital long QT syndrome, torsades ...

In this article, we discuss two experiments of nature and their implications for the sciences of the mind. The first, Williams syndrome, bears on one of cognitive science's holy grails: the possibility of unravelling the causal chain between genes and cognition. We sketch the outline of a general framework to ...

Background: Gamma-glutamyltransferase (GGT) enzyme has an increasing importance in the pathophysiology and prognosis of cardiovascular diseases. It is an indirect marker of microvascular endothelial dysfunction, atherosclerosis, and elevated oxidative stress. There are no adequate data on the relationship between GGT and cardiac syndrome X. Aim: To compare serum GGT levels ...

Rett syndrome is a neurodevelopmental disorder typically caused by mutations in methyl-CpG-binding protein 2 (MECP2) in which 26% of deaths are sudden and of unknown cause. To explore the hypothesis that these deaths may be due to cardiac dysfunction, we characterized the electrocardiograms in 379 people with Rett syndrome and ...

Abstract  We report the case of a 58-year-old patient with Gilbert's syndrome and multiple cardiovascular pathologies, including aortic regurgitation with a dilated aortic root, severe mitral regurgitation, and chronic atrial fibrillation. A Bentall procedure, mitral valve repair, and modified radiofrequency MAZE procedure were performed. The management of Gilbert's syndrome in ...

Objectives: To indicate cardiogenic shock as a very rare but serious clinical consequence of untreated panhypopituitarism secondary to Sheehan's syndrome; to emphasize the importance of eliciting a detailed endocrine and obstetric history in women presenting with idiopathic heart failure; to indicate the diagnostic shortcomings of screening for thyroid dysfunction solely ...

Situs ambiguous is rare congenital anomaly in adults. In 2 adult patients who admitted for different cardiac problems, situs ambiguous with polysplenia was detected. A 42-year-old male admitted for radio frequent catheter ablation of atrial fibrillation, and he had left-sided inferior vena cava (IVC), hepatic segment of IVC interruption with ...

Broken heart syndrome or stress-induced non-ischemic cardiomyopathy (SICM) has rarely been reported in the setting of myasthenic crisis. We describe a case of reversible SICM that occurred simultaneously with myasthenic crisis in a 77-year-old man without prior cardiac history, and we discuss the previous findings that support an association of ...

Improved survival in children with hypoplastic left heart syndrome has created a sub-population of children and young adults who are living with functionally univentricular physiology. Routine surveillance with comprehensive screening for structural cardiac disease, functional cardiac disease, arrhythmias, thromboembolic disease, and associated dysfunction of end organs is important. Future directives ...

This report describes a 34-year-old male with the Wolff-Parkinson-White syndrome who presented with the unusual finding of a tachyarrhythmia-induced cardiomyopathy secondary to atrial flutter with 1:1 conduction through a left-lateral accessory pathway. Catheter ablation of the accessory connection resulted in complete normalization of cardiac function.

A 40-year-old white male received cardio-pulmonary resuscitation after cardiac arrest due to an epileptic status. Four months after the incident he developed an akinetic-rigid syndrome and a postural tremor more pronounced on the right side of the body. Brain imaging revealed bilateral lesions of the putamen and caudate nucleus. Levodopa improved ...

Ciguatera fish poisoning occurs with ingestion of fish containing ciguatoxin. It causes a clinical syndrome that comprises classic gastrointestinal, neurological and cardiovascular symptoms. Ciguatoxin is a sodium channel agonist with cholinergic and adrenergic activity. Although cardiovascular symptoms are rare with ciguatoxin, we report two cases with bradycardia and hypotension. Fatality ...

Congenital heart disease is one of the most common human birth defects, yet many genes and pathways regulating heart development remain unknown. A recent study in humans revealed that mutations in a single Hox gene, HOXA1 (Athabascan Brainstem Dysgenesis Syndrome, Bosley-Salih-Alorainy Syndrome), can cause severe cardiovascular malformations, some of which ...

The Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) syndrome is a disorder of the urea cycle and ornithine degradation pathway caused by mutations in the mitochondrial ornithine transporter, ORNT1 (SLC25A15). In general, the majority of patients with HHH syndrome come to medical attention during infancy or early school years with symptoms such as learning disabilities, ...

Mesothelial/monocytic incidental cardiac excrescence (MICE) is a rare benign lesion composed of a mixture of histiocytes, mesothelial cells, fibrin, adipocytes and scattered inflammatory cells without a vascular network or supporting stroma. Its pathogenesis is controversial with some authors favoring an artifactual theory while others consider a reactive phenomenon. To date, ...

: Takotsubo syndrome, also known as ampulla cardiomyopathy, broken heart syndrome, idiopathic apical ballooning syndrome, and stress-induced myocardial stunning, has been first described by Japanese authors in 1996 and subsequently specified in 2001; it derives from the resemblance between the ancient round-bottomed, narrow-necked Japanese fishing pots used to trap octopus ...

Acquired and hereditary long-QT syndromes are important causes of sudden cardiac death. Both categories are characterized by abnormally prolonged cardiac repolarization arising from a complex interaction between genetic and environmental factors. This produces a potentially dangerous substrate for polymorphic ventricular tachycardia and sudden cardiac death. In this review, the pathophysiologic, ...