31 results about "Intellectual disability" patented technology

The invention relates to application of a dcf1 gene to regulation and control over expression of ATP1B1. Two types of mouse detection including a wild type (as reference) and dcf1 knockout are adopted, and it is found that the dcf1 gene has influences on astrocytes through ATP1B1; it is found through cell immunofluorescence observation that after dcf1 knockout is conducted, the sizes of the astrocytes are reduced; then cellular immunofluorescence and co-immunoprecipitation prove the interaction between DCF1 and the ATP1B1 with the function of influencing the sizes of the astrocytes, research on the interaction relationship and the upstream and downstream adjustment relationship between the DCF1 and the ATP1B1is conducted, meanwhile, an RNA interference technology is utilized to lower the expression quantity of the ATP1B1, it is observed that abnormity of the astrocytes is relieved, and the treatment potential of the DCF1 for dysgnosia caused by abnormity of the astrocytes is finally proved.

A therapeutic method for treating apraxia of speech in children. The child can also be diagnosed with autism, mental retardation, dyslexia. Verbal development stages and nonverbal development stages are tested and observed. If a child demonstrates at least 18 to 24 month development stage of either the verbal development or the non-verbal development, a therapeutic dosage of dopamine agonistic medicine is administered to the child in addition to speech therapy and language training.

The invention discloses nucleic acid related to X-linked intellectual disability, a gene mutant and an application thereof. Compared with a wild type OPHN1 gene, the nucleic acid related to the X-linked intellectual disability has c.1534G>T mutation. The nucleic acid disclosed by the invention is a new mutated nucleic acid on the OPHN1 gene related to the X-linked intellectual disability, and whether a biological sample suffers from the X-linked intellectual disability or not can be effectively detected by detecting whether the nucleic acid exists in the biological sample or not. The discoveryof the pathogenic mutation site on the OPHN1 gene further expands and perfects the detection and research of the X-linked intellectual disability, and provides a new detection site, a new detection method and a new detection way for the diagnosis or treatment of the disease.

The invention relates to a fall sensor circuit, in particular to a fall sensor circuit applied to a mobile phone. Its characteristic is that the analog data collected by the sensor is transmitted to the single-chip microcomputer, and the digital signal obtained by the single-chip microcomputer is monitored by the internal analog-to-digital conversion circuit. The transmitting circuit automatically sends predetermined distress information, and its device is composed of a data acquisition module, a control module and a voltage conversion module. The fall sensor circuit proposed by the present invention has simple hardware structure, fewer chips and low power consumption. The present invention is particularly suitable for the elderly, children, mentally handicapped people and patients who are prone to falls.

The invention relates to a pathogenic gene model of mental retardation and a building method and application of the pathogenic gene model. The pathogenic gene model has the advantages that the pathogenic gene related to a corresponding patient with the mental retardation is found by analyzing the peripheral blood whole genome DNA of the patient with the mental retardation, the family members of the patient and normal people without the mental retardation, the pathogenesis of the mental retardation can be learned about favorably, and prenatal diagnosis and prevention can be achieved.

The application provides a device for improving the concentration of mentally handicapped children, including: a support frame, a fountain module, a steel ball, a mobile frame assembly and a pressing block assembly arranged on the support frame, and two rows of partitions on the top frame of the support frame. An S-shaped channel is formed between the blocks; the moving frame assembly is located below the top frame, and the moving frame assembly includes a moving frame that slides longitudinally, an annular sleeve that slides horizontally, and an elastic clamping claw arranged on the annular sleeve; the operation of the pressing block assembly can make The elastic clamping claws are opened; the fountain module includes a fountain piece, a chute and a pricking needle arranged between the fountain piece and the chute, and the pricking needle moves up under the action of the pressing spring; the steel ball is located at the jaw of the elastic clamping claw , the top of the steel ball is higher than the bottom of the spacer, and the released steel ball falls into the chute, and then pushes the needle to move to make the balloon of the flower tube burst. This application can adjust the training difficulty, and the training effect is good.

The present invention relates to a novel serine derivative compound having improved blood-brain barrier (BBB) permeability, and a use of same, and more specifically, to a novel serine derivative compound having further improved BBB permeability compared to L-serine, and a pharmaceutical composition comprising the compound as an effective compound for preventing or treating / alleviating central nervous system diseases, such as cognitive disorders, intellectual disabilities, microcephaly, epilepsy, neurodevelopmental disorders, dementia, autism spectrum disorders, Down syndrome, Rett syndrome, fragile X syndrome, Alzheimer's disease, Parkinson's disease, Huntington's disease, and amyotrophic lateral sclerosis. A compound of chemical formula (I) or a pharmaceutically acceptable salt thereof asan effective component for the pharmaceutical composition of the present invention for preventing or treating central nervous system diseases exhibits significantly improved BBB permeability comparedto L-serine, and activates the propagation of neurons, and through the neuroprotective effect that inhibits oxidative stress-induced mitochondrial membrane potential disruption and / or endoplasmic reticulum stress-induced apoptotic neuronal cell death, exhibits desirable effects in the prevention, treatment, and alleviation of central nervous system diseases, such as cognitive disorders, intellectual disabilities, microcephaly, epilepsy, neurodevelopmental disorders, dementia, autism spectrum disorders, Down syndrome, Rett syndrome, fragile X syndrome, Alzheimer's disease, Parkinson's disease,Huntington's disease, and amyotrophic lateral sclerosis. Thus, the compound is an extremely useful invention in the drug industry, food industry, and livestock industry.

The invention discloses a nucleic acid related to X-linked mental retardation, a gene mutant and application thereof. The nucleic acid associated with X‑linked intellectual disability has a c.1534G>T mutation compared with the wild-type OPHN1 gene. The nucleic acid of the present invention is a new mutated nucleic acid on the OPHN1 gene related to X-linked mental retardation. By detecting whether the nucleic acid exists in the biological sample, it can effectively detect whether the biological sample suffers from X-linked mental retardation. The discovery of the pathogenic mutation site on the OPHN1 gene has further expanded and improved the detection and research of X-linked intellectual disability, and provided a new detection site, as well as a new detection method and approach for the diagnosis or treatment of the disease.

The invention relates to application of a dcf1 gene to regulation and control over expression of ATP1B1. Two types of mouse detection including a wild type (as reference) and dcf1 knockout are adopted, and it is found that the dcf1 gene has influences on astrocytes through ATP1B1; it is found through cell immunofluorescence observation that after dcf1 knockout is conducted, the sizes of the astrocytes are reduced; then cellular immunofluorescence and co-immunoprecipitation prove the interaction between DCF1 and the ATP1B1 with the function of influencing the sizes of the astrocytes, research on the interaction relationship and the upstream and downstream adjustment relationship between the DCF1 and the ATP1B1is conducted, meanwhile, an RNA interference technology is utilized to lower the expression quantity of the ATP1B1, it is observed that abnormity of the astrocytes is relieved, and the treatment potential of the DCF1 for dysgnosia caused by abnormity of the astrocytes is finally proved.

The present invention provides methods and compositions for diagnosing and treating intellectual disability (ID). The invention also provides methods and compositions for developing and using in-vitro and in vivo models for diagnosis and treatment as well as testing.

The present invention provides a compound having a lysine-specific demethylase-1 inhibitory action, and useful as a medicament such as a prophylactic or therapeutic agent for schizophrenia, developmental disorders, particularly diseases having intellectual disability (e.g., autistic spectrum disorders, Rett syndrome, Down's syndrome, Kabuki syndrome, fragile X syndrome, Kleefstra syndrome, neurofibromatosis type 1, Noonan syndrome, tuberous sclerosis), neurodegenerative diseases (e.g., Alzheimer's disease, Parkinson's disease, spinocerebellar degeneration (e.g., dentatorubural pallidoluysian atrophy) and Huntington's disease), epilepsy (e.g., Dravet syndrome) or drug dependence, and the like. A compound represented by the formulawherein each symbol is as defined in the present specification, or a salt thereof.

The invention discloses an educational toy for disabled children, comprising a base, the base is connected with a robot body through an automatic rotation mechanism, a display screen, a robot arm and a robot head are respectively arranged on the robot body, and the robot head is A switch, camera equipment, recording equipment, broadcasting equipment, control system and power supply device are provided, and the control system is respectively connected with the switch, camera equipment, recording equipment, broadcasting device and automatic rotation mechanism signal, and the power supply device is respectively connected to the The control system, switch, camera equipment, recording equipment, broadcasting equipment and automatic rotating mechanism are electrically connected. The invention allows the robot to have a dialogue with the mentally disabled children, so that the mentally disabled children can practice sentences by speaking more, and at the same time correct the problem of inaccurate pronunciation of the mentally disabled children, so that the language of the mentally disabled children can be well developed.

The angel syndrome is a hereditary neurological disorder, and is characterized by development retardation, intellectual disability, serious speech disorder and exercise and balance problems. Provided herein are polynucleotides, vectors, polypeptides, cells, compositions, kits and methods for treating angel syndrome.

The invention discloses a health care product for improving sleep. The formula of the invention contains kudzu root, which is compatible with longan, wild jujube kernel, polygala, and baiziren, and follows the principle of syndrome differentiation and treatment in traditional Chinese medicine. The effect of sleep; in addition to the effect of improving sleep, it can also alleviate the symptoms of patients with cardiovascular and cerebrovascular diseases such as hypertension, hyperlipidemia, hyperglycemia and migraine. For some middle-aged and elderly people, it can also help treat the elderly Sexual dementia, mental retardation, poor memory, poor metabolism and other diseases.

The present invention provides a mutation site of an ATRX gene related to intellectual disability, the mutation site is located in intron 24 of the ATRX gene, and the mutation information of the mutation site is: c.5786+4 (IVS24) A>G (NM_000489.6); at the same time, the present invention also provides a DNA detection kit and an mRNA detection kit for auxiliary diagnosis of intellectual disability, respectively, the DNA detection kit is used for the above-mentioned The mutation site is detected, and the mRNA detection kit is used to detect the mRNA transcribed from the mutated ATRX gene. The mutation site described in the first aspect and the result obtained from the transcription of the ATRX gene can be directly detected by first-generation sequencing. The mRNA of this mutation clarifies the pathogenicity of this mutation, reveals the pathogenesis of intellectual disability caused by this mutation, and can also be used for accurate diagnosis of ATRX gene-related intellectual disability diseases.

The present invention provides a compound having a lysine-specific demethylase-1 inhibitory action, and useful as a medicament such as a prophylactic or therapeutic agent for schizophrenia, developmental disorders, particularly diseases having intellectual disability (e.g., autistic spectrum disorders, Rett syndrome, Down's syndrome, Kabuki syndrome, fragile X syndrome, Kleefstra syndrome, neurofibromatosis type 1, Noonan syndrome, tuberous sclerosis), neurodegenerative diseases (e.g., Alzheimer's disease, Parkinson's disease, spinocerebellar degeneration (e.g., dentatorubural pallidoluysian atrophy) and Huntington's disease), epilepsy (e.g., Dravet syndrome) or drug dependence, and the like. A compound represented by the formulawherein each symbol is as defined in the present specification, or a salt thereof.