126 results about "Mental retardations" patented technology

The present invention relates to the enhancement of cognition in an individual by delivery of a histone acetylation regulator, such as a histone deacetylase inhibitor. The individual may have normal or poor memory, and the poor memory may be the result of a pathogenic condition or a non-pathogenic condition, such as with normal aging-related impairment. In a specific embodiment, enhancement of cognition occurs in an individual having a mental retardation syndrome.

This invention provides methods of preserving, improving, or restoring cognitive function in mammal having one or more mutations in the FMR1 gene (e.g. at risk for or having fragile x syndrome), where the methods involve the brain derived neurotrophic factor (BDNF) level or activity in the brain of said mammal. In certain embodiments the methods involve administering one or more AMPA potentiators (e.g., ampakines) to the mammal in an amount sufficient to increase BDNF levels in the brain of the mammal.

This invention proposed applications of the extracted materials from shell of Xanthoceras sorbifolia Bunge to making drugs for enhancing brain functions. The extracted materials from the shell of X. sorbifolia include 2~10 percent of crude fats, 15~20 percent of crude protein, 15~25 percent of Bunkankasaponin A. B. C. D., 20~30 percent of sugar and 7~12 percent of water as well as two kinds of sterols of (3beta,5alpha,20R,24S)-stigmasta-7, trans-22-dien-3-ol and (3beta,5alpha,20R,24R)-stigmasta-7-en-3-ol. The applications of this invention shows evidently effective for curing diseases of mental retardation and deficiency, dementia, enuresis, and increasing body's ability of resistance to activity of glycosuria. The extracted materials can also be made of functional foods for increasing brain's functions.

Compositions and uses of mGluR5 antagonists for the treatment and prevention of neurological disorders, such as Fragile X, autism, mental retardation, schizophrenia and Down's Syndrome, are disclosed.

Subjects having at least one condition selected from the group consisting of mental retardation, Down's syndrome, fragile X syndrome and autism are treated with a composition that includes gamma-aminobutyric acid agonists and / or M1 muscarinic receptor antagonists. The gamma-aminobutyric acid agonist (GABA) can be a GABA(B) agonist, such as baclofen. GABA(B) agonists can be used in combination with Group I mGluR antagonists and M1 muscarinic receptor antagonists in methods of treating humans.

The present invention relates to the combination of a methylxanthine and a carbonic anhydrase activator to provide synergistic effects. The invention further relates to the improved / enhanced cognitive ability of individuals, particularly those suffering from various disorders, such as Alzheimer's Disease, stroke, hypoxia, general dementia, ADHD, mental retardation, and "sun down" syndrome.

A developmental board game and method are provided that include a playing surface with a plurality of spaces, one or more player tokens, and a manner to determine how many spaces to proceed. Corresponding to the spaces where a player "lands" are various cards of distinct types. The type of questions and directions on the cards permit a balanced and somewhat controlled reaction and interaction between the players themselves and the monitoring teacher or psychologist. The board game is particularly, but not exclusively, adapted to develop and improve behavior skills for children and adults with developmental disabilities. These disabilities may include ones such as Mental Retardation, Autism, Asperger's Syndrome, Down's Syndrome, Cerebral Palsy, and Spina Bifida. The Social Skill Builder games are specifically designed as an educational tool to help teach appropriate social skills, problem-solving, turn-taking, commenting, and peer interaction to children and adults with developmental disabilities.

The present invention provides methods, kits, isolated nucleic acid sequences, antibodies and addressable oligonucleotides microarrays which can be for analyzing sequence alterations and detecting the expression level of CC2D1A or nup62 in cells of an individual and thus diagnose nonsyndromic mental retardation (NSMR) and / or infantile bilateral striatal necrosis (IBSN) in the individual. In addition, the present invention provides methods and pharmaceutical compositions which can be used to treat pathologies associated with mental retardation such as NSMR or IBS.

mGluR5 antagonists are used for the treatment and prevention of disorders, including Fragile X, autism, mental retardation, schizophrenia and Down's Syndrome. The methods of the invention can be used to treat epilepsy and anxiety in a human having Fragile X syndrome, autism, mental retardation, schizophrenia and Down's Syndrome.

mGluR5 antagonists are used for the treatment and prevention of disorders, including Fragile X, autism, mental retardation, schizophrenia and Down's Syndrome. The methods of the invention can be used to treat epilepsy and anxiety in a human having Fragile X syndrome, autism, mental retardation, schizophrenia and Down's Syndrome.

Provided herein are compositions and methods for treating a subject suffering from Fragile X syndrome, autism, Down's syndrome, mental retardation, or a neuropsychiatric condition (e.g., schizophrenia). The methods include systemic administration of a a therapeutically effective amount of a PAK inhibitor in combination with a Group I mGluR antagonist (e.g., an mGluR5 antagonist). The PAK inhibitor and mGluR antagonist can be administered together, e.g., in one pharmacological composition, or they can be administered separately.

The disclosure provides methods of treating cognitive disorders by administering a HMG CoA reductase inhibitor. Cognitive deficits treatable with the inhibitor compound include those associated with Angelman Syndrome, Neurofibromatosis-1, certain forms of X-linked mental retardation, tuberous sclerosis, Down Syndrome, autism, and attention deficit / hyperactivity disorder.

The invention discloses a micro-computer communication assistant-training system used for children suffering mental retardation and infantile autism. Internal modules of the system are connected as the follows: a recording and playing control unit is respectively connected with a recording unit, an intelligent distinguishing unit, a voice synthetic unit, a system control unit and a pronouncing unit; a storing unit is respectively connected with the recording unit, the system control unit, the intelligent distinguishing unit and the voice synthetic unit. The invention can inspire oral communication and learning and displace the oral expression, and the layout and digital voice-recording of the system can be designed according to individual requirement so as to assist the individual cases to communicate with others, with a great help for the medical treatment, communication with people, promotion of language capability, life self-care, society participation and enhancement of employment for the children suffering mental retardation and infantile autism. And the system can avoid the nervousness and frustration caused by the feeling-expression failure and can induce the interest in language learning. The invention has smart volume for convenient carrying and the user can thoroughly express desire and feeling anytime and anywhere so as to ease sentiments and enhance communication desire.

The present invention provides a method of screening a subject for mutations in the CC2D2A gene that are associated with Joubert syndrome, an autosomal recessive form of mental retardation. The present invention also provides proteins that are associated with Joubert syndrome including proteins comprising an amino acid sequence that terminates in DHEGGSGMES (SEQ ID NO: 1). Also provided are nucleotide sequences encoding such proteins and methods of screening subjects to identify nucleotide sequences or proteins associated with Joubert syndrome.

Methods are disclosed for modulating brain damage mediated by non-NMDA ionotropic glutamate receptor antagonists, as topiramate, in conditions such as periventricular leukomalacia, cerebral palsy, mental retardation and neonatal stroke.

The present invention relates to the field of diagnosis and therapy of hematological malignancies based on the tumor antigen FMR1NB (also called NY-SAR-35, Cancer / testis antigen 37 or Fragile X mental retardation 1 neighbor protein) and agents specifically targeting this antigen or cells expressing the same, e.g., antibodies. The inventors were able to prove that the molecule is expressed on the cell surface and thus represents a particularly advantageous target in cancer therapy and vaccination. Surprisingly, FMR1NB was found to be associated with hematological malignancies, e.g. acute myeloid leukemia (AML) or chronic myeloid leukemia (CML).

The invention identifies Syngap1 dysfunctions as causative of mental retardation. Described are methods of detecting mental retardation and methods of detecting non-syndromic mental retardation (NSMR) in a human subject. Particular methods comprise sequencing a human subject's genomic DNA for comparison with a control sequence from an unaffected individual. Also described are probes, kits, antibodies and isolated mutated Syngap1 proteins.

The present invention provides methods of treating cognitive deficits associated with mental retardation. The methods comprise combining cognitive training protocols and a general administration of phosphodiesterase 4 inhibitors.

mGluR5 antagonists are used for the treatment and prevention of disorders, including Fragile X, autism, mental retardation, schizophrenia and Down's Syndrome. The methods of the invention can be used to treat epilepsy and anxiety in a human having Fragile X syndrome, autism, mental retardation, schizophrenia and Down's Syndrome.

The present invention relates to compounds of formula (I), and pharmaceutically acceptable salts and tautomers thereof. Compounds of the present invention are inhibitors of histone deacetylase (HDAC) and are useful for treating cellular proliferative diseases, including cancer. They are also useful for treating neurodegenerative diseases, mental retardation, 10 schizophrenia, inflammatory diseases, restenosis, immune disorders, diabetes, cardiovascular disorders and asthma.

The present invention discloses the identification of a human autism susceptibility gene, which can be used for the diagnosis, prevention and treatment of autism and related disorders, as well as for the screening of therapeutically active drugs. The invention more specifically discloses that the PITX1 gene on chromosome 5 and certain alleles thereof are related to susceptibility to autism and represent novel targets for therapeutic intervention. The present invention relates to particular mutations in the PITX1 gene and expression products, as well as to diagnostic tools and kits based on these mutations. The invention can be used in the diagnosis of pervasive developmental disorder, mental retardation, anxiety, depression, attention deficit hyperactivity disorders, speech delay, epilepsy, metabolic disorder, immune disorder, bipolar disease and other psychiatric and neurological diseases.

Pharmaceutical compositions and methods of treating Down Syndrome, mental retardation or both are provided. The pharmaceutical compositions comprise one or more benzodiazepine receptor antagonists, such as flumazenil.

Compositions and methods for identifying and / or modulating RNA transcripts and / or genes involved in fragile X syndrome and other associated disorders are provided. In particular, RNA targets for fragile X mental retardation protein (FMRP) have been identified by a novel monoclonal antibody to FMRP and a consensus sequence for the RNA binding region has been identified. Arrays for identifying compounds, proteins, nucleotides, and the like that modulate the RNA targets or associated genes are provided. Additionally, methods for modulating RNA targets are provided.

Angelman Syndrome (AS) is a genetic disorder occurring in one in every 15,000 births. It is characterized by severe mental retardation, seizures, difficulty speaking and ataxia. The gene responsible for AS was discovered to be UBE3A and encodes for E6-AP, an ubiquitin ligase. A unique feature of this gene is that it undergoes maternal imprinting in a neuron-specific manner. In the majority of AS cases, there is a mutation or deletion in the maternally inherited UBE3A gene, although other cases are the result of uniparental disomy or mismethylation of the maternal gene. While most human disorders characterized by severe mental retardation involve abnormalities in brain structure, no gross anatomical changes are associated with AS. We have generated a Ube3a protein with additional sequencesthat should allow the secretion from cells and uptake by neighboring neuronal cells. This would confer a functional E6-AP protein into the neurons and rescue disease pathology.

Pancreatic Neuroendocrine Tumors (PanNETs) are a rare but clinically important form of pancreatic neoplasia. To explore the genetic basis of PanNETs, we determined the exomic sequences of ten non-familial PanNETs and then screened the most commonly mutated genes in 58 additional PanNETs. Remarkably, the most frequently mutated genes specify proteins implicated in chromatin remodeling: 44% of the tumors had somatic inactivating mutations in MEN-1, which encodes menin, a component of a histone methyltransferase complex; and 43% had mutations in genes encoding either of the two subunits of a transcription / chromatin remodeling complex consisting of DAXX (death-domain associated protein) and ATRX (alpha thalassemia / mental retardation syndrome X-linked). Clinically, mutations in the MEN1 and DAXX / ATRX genes were associated with better prognosis. We also found mutations in genes in the mTOR (mammalian target of rapamycin) pathway in 14% of the tumors, a finding that could potentially be used to stratify patients for treatment with mTOR inhibitors.

Angelman Syndrome (AS) is a genetic disorder occurring in approximately one in every 15,000 births. It is characterized by severe mental retardation, seizures, difficulty speaking and ataxia. The gene responsible for AS was discovered to be UBE3A and encodes for E6-AP, an ubiquitin ligase. A unique feature of this gene is that it undergoes maternal imprinting in a neuron-specific manner. In the majority of AS cases, there is a mutation or deletion in the maternally inherited UBE3A gene, although other cases are the result of uniparental disomy or mismethylation of the maternal gene. While most human disorders characterized by severe mental retardation involve abnormalities in brain structure, no gross anatomical changes are associated with AS. We have generated a Ube3a protein with additional sequences that should allow the secretion from cells and uptake by neighboring neuronal cells. This would confer a functional E6-AP protein into the neurons and rescue disease pathology.

Subjects having at least one condition selected from the group consisting of mental retardation, Down's syndrome, fragile X syndrome and autism are treated with a composition that includes Formula I.

The invention aims to provide a traditional Chinese medicine composition with small side effect and for treating children with mental retardation. The traditional Chinese medicine composition for treating children with mental retardation is characterized by being prepared from the following raw material medicines in parts by weight: 20-50 parts of fossilizid, 20-25 parts of arillus longan, 10-18 parts of fructus lycii, 20-25 parts of polygala tenuifolia, 9-15 parts of ginseng, 6-15 parts of apricot kernel, 20-25 parts of Chinese yam, 50-80 parts of meadow fescue, 5-8 parts of radix puerariae, 10-15 parts of ark shell, 5-15 parts of dried orange peel, 10-20 parts of codonopsis pilosula, 5-8 parts of tortoise-plastron gelatin, 20-25 parts of deer-horn gelatin, 5-10 parts of donkey-hide gelatin, and 20-30 parts of rhizoma acori graminei.

The present invention discloses the identification of a human autism susceptibility gene, which can be used for the diagnosis, prevention and treatment of autism and related disorders, as well as for the screening of therapeutically active drugs. The invention more specifically discloses that the MARK1 gene on chromosome 1 and certain alleles thereof are related to susceptibility to autism and represent novel targets for therapeutic intervention. The present invention relates to particular mutations in the MARKI gene and expression products, as well as to diagnostic tools and kits based on these mutations. The invention can be used in the diagnosis of predisposition to, detection, prevention and / or treatment of Asperger syndrome, pervasive developmental disorder, mental retardation, anxiety, depression, attention deficit hyperactivity disorders, speech delay, epilepsy, metabolic disorder, immune disorder, bipolar disease and other psychiatric and neurological diseases including schizophrenia.