• Mutations within the X linked MECP2 gene have been identified in patients with Rett syndrome (RTT), a neurodevelopmental disorder which affects females almost exclusively and which shares phenotypic overlap with AS. (bmj.com)
  • Rett syndrome (RTT) is a disorder which is seen almost exclusively in females. (bmj.com)
  • A neurodevelopmental disorder that affects females, Rett syndrome is associated with cortical atrophy, stereotypical hand movements and severe intellectual disability. (ggc.org)
  • Rett syndrome is characterized by loss of acquired skills after a period of normal development in infancy. (ggc.org)
  • Rett syndrome is a severe neurodevelopmental disorder that results in both motor and language skill regression with a wide range of severity in symptom presentation. (umn.edu)
  • Affected individuals can have neurodevelopmental issues that are often compared to features of a disorder called Rett syndrome . (medlineplus.gov)
  • Rett syndrome is a rare non-inherited genetic postnatal progressive neurodevelopmental disorder that occurs almost exclusively in girls and leads to severe impairments, affecting nearly every aspect of the child's life: their ability to speak, walk, eat and even breathe easily. (anavex.com)
  • There is currently no cure for Rett syndrome and treatment of the disorder is symptomatic. (anavex.com)
  • Rettsyndrome.org is the most comprehensive nonprofit organization dedicated to accelerating research of treatments and a cure for Rett syndrome and related disorders while providing information and family empowerment. (anavex.com)
  • Anavex Life Sciences Corp. ("Anavex" or the "Company") (Nasdaq: AVXL), a clinical-stage biopharmaceutical company developing differentiated therapeutics for the treatment of neurodegenerative and neurodevelopmental disorders including Alzheimer's disease, Parkinson's disease, Rett syndrome and other central nervous system (CNS) disorders, today presented preliminary clinical efficacy data from the PK cohort (Part A) of the U.S. Phase 2 Rett syndrome clinical trial ANAVEX®2-73-RS-001. (anavex.com)
  • BACKGROUND: Rett syndrome is a severe neurodevelopmental disorder, almost exclusively affecting females and characterised by a wide spectrum of clinical manifestations. (unito.it)
  • CONCLUSION: Our results show that CDKL5 is responsible for a rare variant of Rett syndrome characterised by early development of convulsions, usually of the spasm type. (unito.it)
  • Rett syndrome is a neurodevelopmental disorder that is one of the most frequent causes of intellectual disability in females. (preventiongenetics.com)
  • Rett syndrome is a rare genetic neurodevelopmental disorder characterized by severe impairments, affecting a person's ability to speak, walk, eat and breathe normally. (disabilityinsider.com)
  • Rubinstein-Taybi syndrome, a syndrome characterized by broad thumbs, facial abnormalities, and big toes alongside moderate to severe intellectual disability. (wikipedia.org)
  • Affected individuals usually present with variable developmental delay or intellectual disability, ranging from learning difficulties with normal intellect to severe cognitive impairment. (orpha.net)
  • These males display hypotonia that progresses to spasticity, severe intellectual disability and recurrent pulmonary infections. (ggc.org)
  • In late adolescence or early adulthood, individuals with BPAN may begin to experience a gradual loss of intellectual functioning (cognitive decline) that can lead to a severe loss of thinking and reasoning abilities (dementia). (medlineplus.gov)
  • It is characterized by normal early growth and development (6 to 18 months) followed by a slowing of development, loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, problems with walking, seizures and intellectual disability. (anavex.com)
  • Fragile X syndrome (FXS) is an X-linked neurodevelopmental disorder characterized by severe intellectual disability and other symptoms including autism. (pubchase.com)
  • Male patients with pathogenic variants in MECP2 have been reported with non-syndromic intellectual disability, absence of speech, neurodevelopmental delay, and epilepsy (Campos et al. (preventiongenetics.com)
  • Angelman syndrome is a neurodevelopmental disorder characterized by severe intellectual disability, seizure, developmental delay, absent or minimal speech development, ataxic gait and/or tremulousness of the limbs, microcephaly and a unique behavioral phenotype that includes happy demeanor and excessive laughter. (preventiongenetics.com)
  • Multiple groups have made recommendations regarding additional testing for fragile X syndrome (FXS), inborn errors of metabolism (IEMs), X-linked intellectual disability, MECP2 -related disorders, PTEN -related disorders, and/or chromosome analysis, depending on clinical findings and family history. (arupconsult.com)
  • Refer to the Testing for Genetic Syndromes Related to Developmental Delay, Intellectual Disability, and Autism Spectrum Disorder Algorithm for suggested tiered testing approaches. (arupconsult.com)
  • Which genetic test provides the highest diagnostic yield for developmental delay, intellectual disability, and autism spectrum disorders of unknown cause? (arupconsult.com)
  • Chromosomal microarray (CMA) is the recommended first-tier diagnostic test for patients with developmental delay (DD), intellectual disability (ID), or autism spectrum disorders (ASDs) of unknown etiology. (arupconsult.com)
  • Refer to the Testing for Genetic Syndromes Related to Developmental Delay, Intellectual Disability, and Autism Spectrum Disorder Algorithm for more information. (arupconsult.com)
  • STXBP1 -E is characterized by developmental delay often leading to (severe) intellectual disability, and seizures in most patients. (symposiacongressi.com)
  • Background: Tuberous sclerosis complex (TSC) is a genetic disorder characterized by severe neurological manifestations, including epilepsy, intellectual disability, autism, and a range of other behavioral and psychiatric symptoms, collectively referred to as TSC-Associated neuropsychiatric disorders (TAND). (wustl.edu)
  • Neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV) [MIM:615075]: An autosomal dominant disorder characterized by global developmental delay, severe intellectual disability with absent or very limited speech, microcephaly, spasticity, and visual abnormalities. (enquirebio.com)
  • A de novo mutation in RPL10 causes a rare X-linked ribosomopathy characterized by syndromic intellectual disability and epilepsy: A new case and review of the literature. (nih.gov)
  • DDx children exhibit significant and persistent difficulties in learning academic skills related to reading, including word reading accuracy, reading fluency, and reading comprehension, that cannot be better explained by intellectual, neurological or motor disorders, sensory impairment or poor instruction. (ibe-unesco.org)
  • Intellectual disability is considered a neurodevelopmental disorder. (msdmanuals.com)
  • Огляд розладів навчання Learning disorders are conditions that cause a discrepancy between potential and actual levels of academic performance as predicted by the person's intellectual abilities. (msdmanuals.com)
  • if the need for support is considered, only about 1% of the population has severe intellectual disability. (msdmanuals.com)
  • Severe intellectual disability occurs in families from all socioeconomic groups and educational levels. (msdmanuals.com)
  • Less severe intellectual disability (requiring intermittent or limited support) occurs most often in lower socioeconomic groups, paralleling with observations that IQ correlates best with success in school and socioeconomic status rather than specific organic factors. (msdmanuals.com)
  • CDKL5 deficiency disorder (CDD) is a neurodevelopmental disorder characterized by a severe global developmental delay and early-onset seizures. (luporileonardo.com)
  • It is mainly characterized by global developmental delay, seizures, agenesis of the corpus callosum, hair and skin hypopigmentation, bilateral cataract, and varying degrees of immunodeficiency, among other features. (tau.ac.il)
  • This categorization of NAA10 -related syndrome also includes Lenz microphthalmia syndrome (MIM#309800), a disorder also caused by pathogenic variants in the NAA10 gene which is characterized by abnormalities of the skeletal and urinary systems, teeth, ears, digits, and several ocular defects that may include unilateral or bilateral microphthalmia/anophthalmia, cataracts, nystagmus, coloboma, and glaucoma [ 3 ]. (hindawi.com)
  • Background Variants in PPP2R5D , affecting the regulatory B56δ subunit of protein phosphatase 2A (PP2A), have been identified in individuals with neurodevelopmental abnormalities. (bmj.com)
  • Cleidocranial dysplasia (CCD) spectrum disorder is a skeletal dysplasia that represents a clinical continuum ranging from classic CCD (triad of delayed closure of the cranial sutures, hypoplastic or aplastic clavicles, and dental abnormalities) to mild CCD to isolated dental anomalies without the skeletal features. (nih.gov)
  • Fibromyalgia (FM) is defined as a severe, chronic, non-articular rheumatic condition characterised by widespread musculoskeletal pain, hyperalgesia and generalised tender points, in the absence of inflammatory or structural musculoskeletal abnormalities. (spectrum-project.org)
  • However, the onset of absence in patients younger than age 3 is associated with increased odds of neurodevelopmental abnormalities "and probably represents another epilepsy syndrome," he said. (medscape.com)
  • OBJECTIVE: To evaluate the prevalence and determinants of BE in children who are free from neurodevelopmental disorders and tracheoesophageal abnormalities. (who.int)
  • Atypical Cognitive Deficits in Developmental Disorders: Implications for Brain Function. (wikipedia.org)
  • FOXP1 syndrome - a severe neurodevelopmental disorder characterized by cognitive deficits and autistic traits. (englishjobs.de)
  • These comorbidities (motor deficits, obesity, sleep disorders, and gastrointestinal dysfunction) may potentiate main ASD social and behavioral symptoms. (frontiersin.org)
  • Despite discrete autism-related dimensions, such as deficits in communication, empathy and mentalizing are likely to affect the development of personality and despite they actually frequently occur in borderline patients, no research has so far investigated the relationship between autistic traits and Borderline Personality Disorder (BPD). (spectrum-project.org)
  • one of psychology's neurodevelopmental disorder characterized by deficits or abnormal language development, abnormal social skills and development, and repetitive and restricted behavior. (dummies.com)
  • Patients with multiple sclerosis are classified according to their clinical phenotype, with ~85% following a relapsing-remitting course (relapsing-remitting multiple sclerosis) characterized by recurrent, acute neurological deficits punctuating periods of latency or remission (Lublin and Reingold, 1996). (medscape.com)
  • and problems with communication and social interaction characteristic of autism spectrum disorder . (medlineplus.gov)
  • It's characterized by social-interaction difficulties, communication challenges and a tendency to engage in repetitive behaviors. (about-twins.com)
  • Symptoms of Aspergers disorder included impairments in social interaction and restricted, repetitive patterns of behavior, interests, and activities. (medicalnewstoday.com)
  • Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by challenges in social interaction, communication, and repetitive behaviors. (trendsmagazine.net)
  • The Autism Spectrum refers to a range of neurodevelopmental disorders that affect an individual's communication, social interaction, and behavior. (visualpcs.com)
  • Autism is a pervasive developmental disorder characterized by impairment in three areas of development: social interaction, communication and behavior. (bvsalud.org)
  • Bumetanide - a prescription drug for oedema (the build-up of fluid in the body) - improves some of the symptoms in young children with autism spectrum disorders and has no significant side effects, according to a new study from researchers in China and the UK. (scienceblog.com)
  • Other studies have not been able to find a clear link concluding that being twins isn't a substantial risk factor for being diagnosed with Autism Spectrum Disorders. (about-twins.com)
  • New twin studies in relation to Autism Spectrum Disorders are continuously being published. (about-twins.com)
  • Currently, there is no standard treatment for Autism Spectrum Disorders (ASD), but there are many ways to minimize the symptoms and maximize abilities. (frontiersin.org)
  • Autism spectrum disorders (ASDs) represent a neurodevelopmental continuum with varying degrees of social impairment, communication limitations, repetitive behaviors, and/or a restricted range of interests. (arupconsult.com)
  • Some studies have detected an association between variation in this gene and autism spectrum disorders, though others do not detect this relationship. (nih.gov)
  • Other seizure types that can occur in this disorder include short lapses in awareness that can have the appearance of staring spells or daydreaming (absence seizures, also called petit mal seizures), sudden episodes of weak muscle tone (atonic seizures), involuntary muscle twitches (myoclonic seizures), or more pronounced movements called epileptic spasms. (medlineplus.gov)
  • It is characterized by mental retardation, delayed major motor and cognitive milestones, seizures, absence of speech and excessive laughter. (usf.edu)
  • This severe condition is characterized by seizures, inability to control body movements, and lack of speech. (foxg1.org)
  • It is characterized by perennial seizures and it does not discriminate between young and old. (lu.se)
  • These symptoms can be mild, moderate, or severe. (nassp.org)
  • Symptoms range from very mild to quite severe and the majority of cases also have other co-morbid conditions with significant impact on their lives. (brainfoundation.org.au)
  • The most dramatic symptoms are easy to notice, but the disorder often is hard to recognize. (brainfoundation.org.au)
  • Use of stimulants can be helpful when there are also Attention Deficit Hyperactivity Disorder symptoms but careful monitoring for any increase in tick symptoms is recommended. (brainfoundation.org.au)
  • Symptoms vary from person to person and can range from mild to severe. (cbdcomfortzone.com)
  • A twin autism study, published in the Journal of Autism and Developmental Disorder, concluded that high levels of autism symptoms are genetic. (about-twins.com)
  • Borderline autism is not a diagnosis - it is an informal term some people may use to describe mild symptoms of autism spectrum disorder (ASD). (medicalnewstoday.com)
  • It is a spectrum disorder, meaning there is a broad variation in the types and severity of symptoms. (medicalnewstoday.com)
  • Instead, it is an informal term referring to less severe ASD symptoms. (medicalnewstoday.com)
  • Some individuals use the terms borderline autism, mild autism, Asperger's, and high-functioning autism interchangeably to identify people with less severe ASD symptoms. (medicalnewstoday.com)
  • Level 1 encompasses the least severe symptoms requiring some support, while level 3 has the most severe symptoms requiring very substantial support. (medicalnewstoday.com)
  • Some individuals with autism may have mild symptoms, while others may experience more severe challenges. (trendsmagazine.net)
  • Long-term complications such as muscular and cardiac symptoms as well as liver fibrosis/cirrhosis and hepatocellular carcinoma may have a severe impact on prognosis and quality of life. (nih.gov)
  • Using an image-guided minimally invasive procedure that takes less than 10 minutes, patients could alleviate symptoms of parosmia, a condition characterized by a distorted sense of smell. (medicaldaily.com)
  • Subjects with bipolar disorders or with mood spectrum symptoms demonstrated to be more vulnerable to develop PTSD in the aftermath of a trauma. (spectrum-project.org)
  • Several studies suggest there is a meaningful relationship between FM and the psychological symptoms of depression and post-traumatic stress disorder (PTSD). (spectrum-project.org)
  • PTSD is a mental disorder that can develop after a person has been exposed to a traumatic event, characterised by a specific set of symptoms including re-experiencing of the event, avoidance and numbing and arousal. (spectrum-project.org)
  • When assessed for adult autism spectrum symptoms, despite not fulfilling a DSM-5 diagnosis of Autism Spectrum Disorder (ASD), he reported a score of 93/240 at the Ritvo Autism and Asperger Diagnostic Scale (RAADS-r) and of 88/160 at the Adult Autism Subthreshold Spectrum (AdAS Spectrum), both indicative of ASD. (spectrum-project.org)
  • Approximately 15% of patients follow a primary progressive or progressive relapsing course from disease onset, usually characterized by symptoms of progressive myelopathy (gait instability, spasticity, bladder symptoms) and cognitive impairment. (medscape.com)
  • Acute cerebellar ataxia is characterized by abrupt and symmetric symptoms, with no mental status changes, no fever, no meningitis, and no headache. (medscape.com)
  • Until this day there is no cure for epilepsy, the therapies available only treat symptoms and come with severe side effects. (lu.se)
  • In addition, when a baby has a head that is too small, we can talk about microcephaly, a severe neurodevelopmental disorder that is characterized by weak cognitive abilities, growth retardation, several dysfunctions in the other organs of the body and, in the most extreme cases, a decrease in the life expectancy of the child. (cryptosavvy.com)
  • Clinical features typically include severe psychomotor developmental delay, cardiac disease, dysmorphic features, postnatal growth failure, and hypotonia, although there is significant variability in the severity of the phenotype among affected individuals. (hindawi.com)
  • Our laboratory uses genetic, cell biological, and biochemical approaches to explore the pathogenesis of polyglutamine neurodegenerative diseases, the function of Math1 in neurodevelopment, and how MECP2 mutations cause postnatal neurodevelopmental disorders. (bcm.edu)
  • Angelman syndrome (AS) is a neurodevelopmental disorder characterised by severe mental retardation, absent speech, ataxia, sociable affect, and dysmorphic facial features. (bmj.com)
  • Angelman syndrome (AS) is a neurodevelopmental disorder characterised by severe mental retardation, inability to speak, ataxia, dysmorphic facial features, and a seizure disorder associated with a characteristic EEG appearance. (bmj.com)
  • The differential diagnosis includes 22q11.2 deletion syndrome and a number of other neurodevelopmental disorders associated with feeding difficulties, mild developmental delay and variable anomalies. (orpha.net)
  • Spinocerebellar ataxia type 35 (SCA35) is a rare, autosomal dominant neurodegenerative disorder associated with mutations in TGM6 gene that encode the protein transglutaminase 6 (TG6). (ataxia.org)
  • Introduction: Vici Syndrome is a rare, severe, neurodevelopmental/neurodegenerative disorder with multi-systemic manifestations presenting in infancy. (tau.ac.il)
  • Asphyxiating thoracic dysplasia, an autosomal recessive skeletal disorder with an estimated prevalence of between 1 in 100,000 and 1 in 130,000 live births. (wikipedia.org)
  • Its prevalence is unknown, but it is thought to account for between 35 and 40 percent of all cases of NBIA disorders. (medlineplus.gov)
  • Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease (MJD), is characterized by progressive cerebellar ataxia and variable findings including pyramidal signs, a dystonic-rigid extrapyramidal syndrome, significant peripheral amyotrophy and generalized areflexia, progressive external ophthalmoplegia, action-induced facial and lingual fasciculations, and bulging eyes. (nih.gov)
  • These include: Alagille syndrome, an autosomal dominant disorder with a wide range of features and manifestations. (wikipedia.org)
  • It is characterised by impairments in social communication, which manifest as problems with understanding emotions and with non-verbal communication, such as eye contact and smiling, and in failures to develop, maintain and understand social relationships. (scienceblog.com)
  • Tourette Syndrome (TS) is a neuro developmental disorder characterized by repeated involuntary movements (motor tics) and uncontrollable sounds (vocal or phonic tics). (brainfoundation.org.au)
  • FOXG1 Syndrome is a rare neuro-developmental disorder caused by a mutation of the FOXG1 gene, which impacts brain development and function. (foxg1.org)
  • The condition is characterized by sudden, involuntary movements and/or sounds called tics. (cbdcomfortzone.com)
  • Tourette syndrome is a neurodevelopmental disorder characterized by repetitive, involuntary movements and vocalizations called tics . (osmosis.org)
  • The childhood neuromuscular subtype is rare and the course is variable, ranging from onset in the second decade with a mild disease course to a more severe, progressive course resulting in death in the third decade. (beds.ac.uk)
  • Dominant cystoid macular dystrophy (DCMD) is a progressive retinal dystrophy characterized primarily by early-onset cystoid fluid collections in the neuroretina (summary by Saksens et al. (beds.ac.uk)
  • Patients affected by SCAN-1 develop an adult onset devastating pathology characterized by peripheral axonal motor, sensory neuropathy, distal muscular atrophy, pes cavus and steppage gait. (ataxia.org)
  • ALS risk was increased for those reporting severe electrical burns (adjusted OR 2.86, 95% CI 1.37-6.03), with odds ratios highest for burns after age 30 (OR 3.14), and for burns 10 or more years prior to symptom onset (OR 3.09). (cdc.gov)
  • Krabbe originally described a condition with infantile onset that was characterized by spasticity and a rapidly progressive neurologic degeneration leading to death. (medscape.com)
  • In mild cases of ASD, people are able to live independently, but for some the condition can be severe, requiring life-long care and support. (scienceblog.com)
  • Tics can range from mild/inconsequential to moderate and severe and are disabling in some cases. (cbdcomfortzone.com)
  • These difficulties can be mild, severe or somewhere in between. (about-twins.com)
  • The spectrum encompasses a wide range of presentations, from mild to severe. (visualpcs.com)
  • While the majority of illnesses caused by pandemic (H1N1) 2009 were mild and self-limiting, severe complications, including fatalities, were also reported. (who.int)
  • Glycogen storage disease type III (GSD III) is characterized by variable liver, cardiac muscle, and skeletal muscle involvement. (nih.gov)
  • Ocular manifestations of the NAA10 -related syndrome are not uncommon, although they have not been well characterized in literature reports. (hindawi.com)
  • Ocular manifestations of the NAA10 -related syndrome have not been well characterized in the literature. (hindawi.com)
  • Dr Fei Li from Xinhua Hospital, Jiao Tong University School of Medicine, the clinical lead of the study, said: "I have many children with autism spectrum disorder under my care, but as psychological treatment resources are not available in many places, we are unable to offer them treatment. (scienceblog.com)
  • For this reason, BPAN is classified as a type of disorder called neurodegeneration with brain iron accumulation (NBIA), although the iron accumulation may not occur until late in the disease. (medlineplus.gov)
  • Functional analysis revealed impaired PP2A A/C-subunit binding, decreased short linear interaction motif-dependent substrate binding or both-with the most severe phenotypes associated with variants that completely retained one of these binding characteristics and lost the other-further supporting a dominant-negative disease mechanism. (bmj.com)
  • This study describes the findings from the targeted delivery of gene therapy to midbrain to treat a rare deadly neurodevelopmental disorder in children with a neurogenetic disease, aromatic L-amino acid decarboxylase (AADC) deficiency characterized by deficient synthesis of dopamine and serotonin. (news-medical.net)
  • Researchers believe this same method of gene therapy can be used to treat other genetic disorders as well as common neurodegenerative diseases, such as Parkinson's and Alzheimer's disease. (news-medical.net)
  • The research was supported by the National Institute of Neurological Disorders and Stroke and foundational grants, including the AADC Research Trust, the Pediatric Neurotransmitter Disease Association and funding from The Ohio State University. (news-medical.net)
  • Individuals with these disorders all suffer from tics , which are quick, nonrhythmic movements or vocalizations that occur over and over, and aren't side effects of some other condition like Huntington's disease or substance abuse. (osmosis.org)
  • The aim of this event is to promote collaborative networks, share knowledge and create awareness on STXBP1 -E. We strongly believe that we can only advance our understanding of this rare disorder and advance the search for a cure by extensive collaboration with both the international research community and the STXBP1 families who have their own personal expertise with the disease. (symposiacongressi.com)
  • Colorectal cancer (CRC) [MIM:114500]: A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. (enquirebio.com)
  • The disorder is caused by heterozygous, pathogenic variants (larger deletions, truncating variants or missense variants within the zinc-finger domains) in the CTCF -gene on chromosome 16q22.1, which encodes for an important chromatin organizer. (orpha.net)
  • The disorder is caused by pathogenic variants in the NAA10 gene located on chromosome X at position Xq28. (hindawi.com)
  • Ogden syndrome (MIM #300855) is a rare X-linked neurodevelopmental disorder caused by pathogenic variants of the NAA10 gene located at Xq28 [ 1 ]. (hindawi.com)
  • STXBP1 -encephalopathy ( STXBP1 -E) is a rare genetic neurodevelopmental disorder, caused by pathogenic variants in the STXBP1 gene, with an estimated incidence of 1 in 30.000. (symposiacongressi.com)
  • Vitreoretinopathy, exudative 7 (EVR7) [MIM:617572]: A form of exudative vitreoretinopathy, a disorder of the retinal vasculature characterized by an abrupt cessation of growth of peripheral capillaries, leading to an avascular peripheral retina. (enquirebio.com)
  • ADHD is a neurodevelopmental disorder characterized by developmentally inappropriate levels of inattention, impulsivity, and hyperactivity. (nassp.org)
  • Individuals with CCD spectrum disorder are at increased risk of developing recurrent sinus infections, recurrent ear infections leading to conductive hearing loss, and upper-airway obstruction. (nih.gov)
  • Some people with a former diagnosis of Aspergers disorder may continue to use this term to self-identify, some might say they have borderline autism, and others use the terms interchangeably. (medicalnewstoday.com)
  • Conclusion Our study delineates the most common features of PPP2R5D -related neurodevelopmental disorders, expands the clinical and molecular spectrum and identifies genotype-phenotype correlations. (bmj.com)
  • Objective and Methods: We aimed to characterize the clinical and molecular findings in individuals harboring biallelic EPG5 variants, recruited from four medical centers in Israel. (tau.ac.il)
  • The NAA10 -related syndrome is a rare X-linked neurodevelopmental condition that was first described in 2011. (hindawi.com)
  • We characterized 97 non-O157 Shiga toxin (stx)-producing Escherichia coli strains isolated from human patients during 2000-2009 from the national reference laboratory in Switzerland. (cdc.gov)
  • Compte tenu du nombre croissant d'infections et de décès par le virus de la grippe pandémique (H1N1) 2009 confirmés en laboratoire dans la Région OMS de la Méditerranée orientale, le Bureau régional a convoqué une réunion consultative d'experts impliqués dans la prise en charge clinique de patients infectés par ce virus. (who.int)
  • Several single gene disorders share clinical and radiologic characteristics with multiple sclerosis and have the potential to be overlooked in the differential diagnostic evaluation of both adult and paediatric patients with multiple sclerosis. (medscape.com)
  • Patients with neurodevelopmental and tracheoesophageal disorders were excluded. (who.int)
  • BPAN is a rare disorder. (medlineplus.gov)
  • It's our hope that this will be first of many ultra-rare and other neurologic disorders that will be treated with gene therapy in a similar manner," Bankiewicz said. (news-medical.net)
  • Beta-propeller protein-associated neurodegeneration (BPAN) is a disorder that damages the nervous system and is progressive, which means that it gradually gets worse. (medlineplus.gov)
  • We are using molecular, genetic and biochemical approaches to better define the normal function of sialin and to determine how loss of sialin function leads to neurodevelopmental defects and neurodegeneration associated with the lysosomal free sialic acid storage disorders. (stanford.edu)
  • Dr. Reimer specializes in treatment of lysosomal storage disorders that affect the nervous system. (stanford.edu)
  • A second interest of our lab is to define mechanism underlying the pathology of lysosomal storage disorders. (stanford.edu)
  • Several degenerative diseases designated as lysosomal storage disorders (LSDs) are associated with the accumulation of material within lysosomes. (stanford.edu)
  • This group includes lysosomal storage disorders, various mitochondrial diseases, other neurometabolic disorders, and several other miscellaneous disorders. (medscape.com)
  • Children diagnosed with attention deficit/hyperactivity disorder (ADHD) can be overly active, have trouble paying attention, and/or have difficulty controlling behavior. (cdc.gov)
  • Attention deficit/hyperactivity disorder (ADHD) is associated with adverse outcomes and elevated societal costs. (cdc.gov)
  • The students in his classroom have various learning disabilities, including many with attention deficit hyperactivity disorder (ADHD). (nassp.org)
  • Last year, Esposito was conducting online research about ADHD when he found Children and Adults with Attention-Deficit/Hyperactivity Disorder (CHADD) and discovered the organization's Teacher to Teacher (T2T) program. (nassp.org)
  • For example, attention deficit hyperactivity disorder (ADHD) and obsessive-compulsive disorder (OCD) are very common. (brainfoundation.org.au)
  • These events range from breath holding and hyperventilation to night terrors, narcolepsy, migraine, and attention-deficit/hyperactivity disorder, he said. (medscape.com)
  • The 2016 National Survey of Children's Health found that 2 in 3 children with ADHD had at least one coexisting condition, such as anxiety, depression, or autism spectrum disorder. (nassp.org)
  • Dystonia is a condition characterized by involuntary, sustained muscle contractions. (medlineplus.gov)
  • Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by impaired social communication and repetitive or stereotypic behaviours. (mdpi.com)
  • Dell'Osso L, Conversano C, Corsi M, Bertelloni CA, Cremone IM, Carpita B, Carbone MG, Gesi C, Carmassi C Polysubstance and Behavioral Addictions in a Patient with Bipolar Disorder: Role of Lifetime Subthreshold Autism Spectrum. (spectrum-project.org)
  • A 23-year-old man with a diagnosis of Bipolar Disorder (BD) and Substance Use Disorder (SUD) was hospitalized at the Psychiatric Clinic of the University of Pisa for diuretics and -2 adrenergic agonist abuse in a remission phase of benzodiazepines and substance abuse. (spectrum-project.org)
  • Neurologic disorders are an emerging extrahepatic manifestation of HEV infection. (cdc.gov)
  • Transporters have many characteristics that make them excellent pharmacological targets, and not surprisingly some of the most effective treatments for neuropsychiatric disorders are directed at transporters. (stanford.edu)
  • The term multisystem developmental disorder has also been used to describe various developmental disorders. (wikipedia.org)
  • Autism Spectrum Disorder (ASD) is a range of conditions classified as neuro-developmental disorders. (about-twins.com)
  • Communication intervention may be particularly challenging for this population due to the decline in speech, motor skills, and motor planning difficulties that characterize the disorder (Townend et al. (umn.edu)
  • WASHINGTON - Get the back story before rushing to diagnose a seizure disorder in a child, Michael Strunc, MD, said in a presentation at the American Academy of Pediatrics (AAP) 2023 National Conference. (medscape.com)
  • We are pursuing these goals through molecular and biochemical studies, and, in collaboration with the Huguenard and Prince labs, through physiological and biosensor based imaging studies to better understand how pharmacological targeting of these molecules will influence neurological disorders. (stanford.edu)