Intellectual Disability: Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)Mentally Disabled Persons: Persons diagnosed as having significantly lower than average intelligence and considerable problems in adapting to everyday life or lacking independence in regard to activities of daily living.Disability Evaluation: Determination of the degree of a physical, mental, or emotional handicap. The diagnosis is applied to legal qualification for benefits and income under disability insurance and to eligibility for Social Security and workmen's compensation benefits.Intellectual Property: Property, such as patents, trademarks, and copyright, that results from creative effort. The Patent and Copyright Clause (Art. 1, Sec. 8, cl. 8) of the United States Constitution provides for promoting the progress of science and useful arts by securing for limited times to authors and inventors, the exclusive right to their respective writings and discoveries. (From Black's Law Dictionary, 5th ed, p1014)Disabled Persons: Persons with physical or mental disabilities that affect or limit their activities of daily living and that may require special accommodations.Mental Retardation, X-Linked: A class of genetic disorders resulting in INTELLECTUAL DISABILITY that is associated either with mutations of GENES located on the X CHROMOSOME or aberrations in the structure of the X chromosome (SEX CHROMOSOME ABERRATIONS).Developmental Disabilities: Disorders in which there is a delay in development based on that expected for a given age level or stage of development. These impairments or disabilities originate before age 18, may be expected to continue indefinitely, and constitute a substantial impairment. Biological and nonbiological factors are involved in these disorders. (From American Psychiatric Glossary, 6th ed)
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Prekallikrein: A plasma protein which is the precursor of kallikrein. Plasma that is deficient in prekallikrein has been found to be abnormal in thromboplastin formation, kinin generation, evolution of a permeability globulin, and plasmin formation. The absence of prekallikrein in plasma leads to Fletcher factor deficiency, a congenital disease.Zingiberales: This plant order includes 8 families, 66 genera, and about 1,800 species. These herbaceous perennials are mainly found in the wet tropics. Members include the banana family (MUSACEAE) and GINGER family (ZINGIBERACEAE).Residential Facilities: Long-term care facilities which provide supervision and assistance in activities of daily living with medical and nursing services when required.Zolazepam: A pyrazolodiazepinone with pharmacological actions similar to ANTI-ANXIETY AGENTS. It is commonly used in combination with TILETAMINE to obtain immobilization and anesthesia in animals.Genes, X-Linked: Genes that are located on the X CHROMOSOME.Haploinsufficiency: A copy number variation that results in reduced GENE DOSAGE due to any loss-of-function mutation. The loss of heterozygosity is associated with abnormal phenotypes or diseased states because the remaining gene is insufficient.Ectothiorhodospira: A genus of vibrioid or rod-shaped cells which are motile by polar flagella. Internal photosynthetic membranes are present as lamellar stacks and contain bacteriochlorophyll a or b and carotenoids. Growth occurs photoautotrophically under anaerobic conditions. (From Bergey's Manual of Determinative Bacteriology, 9th ed)Learning Disorders: Conditions characterized by a significant discrepancy between an individual's perceived level of intellect and their ability to acquire new language and other cognitive skills. These disorders may result from organic or psychological conditions. Relatively common subtypes include DYSLEXIA, DYSCALCULIA, and DYSGRAPHIA.Down Syndrome: A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)Fragile X Syndrome: A condition characterized genotypically by mutation of the distal end of the long arm of the X chromosome (at gene loci FRAXA or FRAXE) and phenotypically by cognitive impairment, hyperactivity, SEIZURES, language delay, and enlargement of the ears, head, and testes. INTELLECTUAL DISABILITY occurs in nearly all males and roughly 50% of females with the full mutation of FRAXA. (From Menkes, Textbook of Child Neurology, 5th ed, p226)Child Development Disorders, Pervasive: Severe distortions in the development of many basic psychological functions that are not normal for any stage in development. These distortions are manifested in sustained social impairment, speech abnormalities, and peculiar motor movements.Adaptor Protein Complex 4: An adaptor protein complex involved in transport of molecules between the TRANS-GOLGI NETWORK and the endosomal-lysosomal system.Insurance, Disability: Insurance designed to compensate persons who lose wages because of illness or injury; insurance providing periodic payments that partially replace lost wages, salary, or other income when the insured is unable to work because of illness, injury, or disease. Individual and group disability insurance are two types of such coverage. (From Facts on File Dictionary of Health Care Management, 1988, p207)Education of Intellectually Disabled: The teaching or training of those individuals with subnormal intellectual functioning.Abnormalities, MultipleFragile X Mental Retardation Protein: A RNA-binding protein that is found predominately in the CYTOPLASM. It helps regulate GENETIC TRANSLATION in NEURONS and is absent or under-expressed in FRAGILE X SYNDROME.Disabled Children: Children with mental or physical disabilities that interfere with usual activities of daily living and that may require accommodation or intervention.Mental Disorders: Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function.Exome: That part of the genome that corresponds to the complete complement of EXONS of an organism or cell.Communication Disorders: Disorders of verbal and nonverbal communication caused by receptive or expressive LANGUAGE DISORDERS, cognitive dysfunction (e.g., MENTAL RETARDATION), psychiatric conditions, and HEARING DISORDERS.Epilepsy: A disorder characterized by recurrent episodes of paroxysmal brain dysfunction due to a sudden, disorderly, and excessive neuronal discharge. Epilepsy classification systems are generally based upon: (1) clinical features of the seizure episodes (e.g., motor seizure), (2) etiology (e.g., post-traumatic), (3) anatomic site of seizure origin (e.g., frontal lobe seizure), (4) tendency to spread to other structures in the brain, and (5) temporal patterns (e.g., nocturnal epilepsy). (From Adams et al., Principles of Neurology, 6th ed, p313)Institutionalization: The caring for individuals in institutions and their adaptation to routines characteristic of the institutional environment, and/or their loss of adaptation to life outside the institution.Communication Aids for Disabled: Equipment that provides mentally or physically disabled persons with a means of communication. The aids include display boards, typewriters, cathode ray tubes, computers, and speech synthesizers. The output of such aids includes written words, artificial speech, language signs, Morse code, and pictures.
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Immune System Processes: Mechanisms of action and interactions of the components of the IMMUNE SYSTEM.Activities of Daily Living: The performance of the basic activities of self care, such as dressing, ambulation, or eating.Comparative Genomic Hybridization: A method for comparing two sets of chromosomal DNA by analyzing differences in the copy number and location of specific sequences. It is used to look for large sequence changes such as deletions, duplications, amplifications, or translocations.Segmental Duplications, Genomic: Low-copy (2-50) repetitive DNA elements that are highly homologous and range in size from 1000 to 400,000 base pairs.Syndrome: A characteristic symptom complex.Microcephaly: A congenital abnormality in which the CEREBRUM is underdeveloped, the fontanels close prematurely, and, as a result, the head is small. (Desk Reference for Neuroscience, 2nd ed.)Sexuality: The sexual functions, activities, attitudes, and orientations of an individual. Sexuality, male or female, becomes evident at PUBERTY under the influence of gonadal steroids (TESTOSTERONE or ESTRADIOL), and social effects.Education, Special: Education of the individual who markedly deviates intellectually, physically, socially, or emotionally from those considered to be normal, thus requiring special instruction.Prenatal Injuries: Damages to the EMBRYO, MAMMALIAN or the FETUS before BIRTH. Damages can be caused by any factors including biological, chemical, or physical.Milieu Therapy: A treatment program based on manipulation of the patient's environment by the medical staff. The patient does not participate in planning the treatment regimen.Western Australia: A state in western Australia. Its capital is Perth. It was first visited by the Dutch in 1616 but the English took possession in 1791 and permanent colonization began in 1829. It was a penal settlement 1850-1888, became part of the colonial government in 1886, and was granted self government in 1890. (From Webster's New Geographical Dictionary, 1988, p1329)Chromosome Duplication: An aberration in which an extra chromosome or a chromosomal segment is made.Genetic Diseases, X-Linked: Genetic diseases that are linked to gene mutations on the X CHROMOSOME in humans (X CHROMOSOME, HUMAN) or the X CHROMOSOME in other species. Included here are animal models of human X-linked diseases.Human Characteristics: The fundamental dispositions and traits of humans. (Merriam-Webster's Collegiate Dictionary, 10th ed)DNA Copy Number Variations: Stretches of genomic DNA that exist in different multiples between individuals. Many copy number variations have been associated with susceptibility or resistance to disease.Metabolism, Inborn Errors: Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.Plasma Membrane Neurotransmitter Transport Proteins: A family of neurotransmitter transporter proteins that facilitate NEUROTRANSMITTER reuptake into PRESYNAPTIC TERMINALS. They may play a role in regulating the intensity and duration of neurotransmission.Consanguinity: The magnitude of INBREEDING in humans.Muscle Hypotonia: A diminution of the skeletal muscle tone marked by a diminished resistance to passive stretching.Glass Ionomer Cements: A polymer obtained by reacting polyacrylic acid with a special anion-leachable glass (alumino-silicate). The resulting cement is more durable and tougher than others in that the materials comprising the polymer backbone do not leach out.Mortality, Premature: Deaths that occur before LIFE EXPECTANCY is reached within a given population.Brain Diseases, Metabolic, Inborn: Brain disorders resulting from inborn metabolic errors, primarily from enzymatic defects which lead to substrate accumulation, product reduction, or increase in toxic metabolites through alternate pathways. The majority of these conditions are familial, however spontaneous mutation may also occur in utero.Caregivers: Persons who provide care to those who need supervision or assistance in illness or disability. They may provide the care in the home, in a hospital, or in an institution. Although caregivers include trained medical, nursing, and other health personnel, the concept also refers to parents, spouses, or other family members, friends, members of the clergy, teachers, social workers, fellow patients.Cognition Disorders: Disturbances in mental processes related to learning, thinking, reasoning, and judgment.Pedigree: The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.Group Homes: Housing for groups of patients, children, or others who need or desire emotional or physical support. They are usually established as planned, single housekeeping units in residential dwellings that provide care and supervision for small groups of residents, who, although unrelated, live together as a family.Motor Skills Disorders: Marked impairments in the development of motor coordination such that the impairment interferes with activities of daily living. (From DSM-V)Severity of Illness Index: Levels within a diagnostic group which are established by various measurement criteria applied to the seriousness of a patient's disorder.Smith-Magenis Syndrome: Complex neurobehavioral disorder characterized by distinctive facial features (FACIES), developmental delay and INTELLECTUAL DISABILITY. Behavioral phenotypes include sleep disturbance, maladaptive, self-injurious and attention-seeking behaviors. The sleep disturbance is linked to an abnormal circadian secretion pattern of MELATONIN. The syndrome is associated with de novo deletion or mutation and HAPLOINSUFFICIENCY of the retinoic acid-induced 1 protein on chromosome 17p11.2.SyriaQuestionnaires: Predetermined sets of questions used to collect data - clinical data, social status, occupational group, etc. The term is often applied to a self-completed survey instrument.Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.Genes, Recessive: Genes that influence the PHENOTYPE only in the homozygous state.
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Methylcholanthrene: A carcinogen that is often used in experimental cancer studies.Williams Syndrome: A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects both sexes, with onset at birth or in early infancy.Pensions: Fixed sums paid regularly to individuals.Self-Injurious Behavior: Behavior in which persons hurt or harm themselves without the motive of suicide or of sexual deviation.Clopenthixol: A thioxanthene with therapeutic actions similar to the phenothiazine antipsychotics. It is an antagonist at D1 and D2 dopamine receptors.Language Development Disorders: Conditions characterized by language abilities (comprehension and expression of speech and writing) that are below the expected level for a given age, generally in the absence of an intellectual impairment. These conditions may be associated with DEAFNESS; BRAIN DISEASES; MENTAL DISORDERS; or environmental factors.Craniofacial Abnormalities: Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones.Child Behavior Disorders: Disturbances considered to be pathological based on age and stage appropriateness, e.g., conduct disturbances and anaclitic depression. This concept does not include psychoneuroses, psychoses, or personality disorders with fixed patterns.Wechsler Scales: Tests designed to measure intellectual functioning in children and adults.Chemistry, Agricultural: The science of the chemical composition and reactions of chemicals involved in the production, protection and use of crops and livestock. (From McGraw-Hill Dictionary of Scientific and Technical Terms, 6th ed)IsraelFoot Rot: A disease of the horny parts and of the adjacent soft structures of the feet of cattle, swine, and sheep. It is usually caused by Corynebacterium pyogenes or Bacteroides nodosus (see DICHELOBACTER NODOSUS). It is also known as interdigital necrobacillosis. (From Black's Veterinary Dictionary, 18th ed)Social Behavior: Any behavior caused by or affecting another individual, usually of the same species.Toxoplasmosis, Ocular: Infection caused by the protozoan parasite TOXOPLASMA in which there is extensive connective tissue proliferation, the retina surrounding the lesions remains normal, and the ocular media remain clear. Chorioretinitis may be associated with all forms of toxoplasmosis, but is usually a late sequel of congenital toxoplasmosis. The severe ocular lesions in infants may lead to blindness.Foot Deformities, Congenital: Alterations or deviations from normal shape or size which result in a disfigurement of the foot occurring at or before birth.Mutation: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.Chromosome Deletion: Actual loss of portion of a chromosome.Myasthenia Gravis, Neonatal: A disorder of neuromuscular transmission that occurs in a minority of newborns born to women with myasthenia gravis. Clinical features are usually present at birth or develop in the first 3 days of life and consist of hypotonia and impaired respiratory, suck, and swallowing abilities. This condition is associated with the passive transfer of acetylcholine receptor antibodies through the placenta. In the majority of infants the myasthenic weakness resolves (i.e., transient neonatal myasthenia gravis) although this disorder may rarely continue beyond the neonatal period (i.e., persistent neonatal myasthenia gravis). (From Menkes, Textbook of Child Neurology, 5th ed, p823; Neurology 1997 Jan;48(1):50-4)Sp3 Transcription Factor: A specificity protein transcription factor that regulates expression of a variety of genes including VASCULAR ENDOTHELIAL GROWTH FACTOR and CYCLIN-DEPENDENT KINASE INHIBITOR P27.Health Facility Administrators: Managerial personnel responsible for implementing policy and directing the activities of health care facilities such as nursing homes.Comorbidity: The presence of co-existing or additional diseases with reference to an initial diagnosis or with reference to the index condition that is the subject of study. Comorbidity may affect the ability of affected individuals to function and also their survival; it may be used as a prognostic indicator for length of hospital stay, cost factors, and outcome or survival.Parents: Persons functioning as natural, adoptive, or substitute parents. The heading includes the concept of parenthood as well as preparation for becoming a parent.Child Development: The continuous sequential physiological and psychological maturing of an individual from birth up to but not including ADOLESCENCE.Longitudinal Studies: Studies in which variables relating to an individual or group of individuals are assessed over a period of time.Rett Syndrome: An inherited neurological developmental disorder that is associated with X-LINKED INHERITANCE and may be lethal in utero to hemizygous males. The affected female is normal until the age of 6-25 months when progressive loss of voluntary control of hand movements and communication skills; ATAXIA; SEIZURES; autistic behavior; intermittent HYPERVENTILATION; and HYPERAMMONEMIA appear. (From Menkes, Textbook of Child Neurology, 5th ed, p199)Social Adjustment: Adaptation of the person to the social environment. Adjustment may take place by adapting the self to the environment or by changing the environment. (From Campbell, Psychiatric Dictionary, 1996)Homozygote: An individual in which both alleles at a given locus are identical.Sex Chromosome Disorders: Clinical conditions caused by an abnormal sex chromosome constitution (SEX CHROMOSOME ABERRATIONS), in which there is extra or missing sex chromosome material (either a whole chromosome or a chromosome segment).Kelp: Large, robust forms of brown algae (PHAEOPHYCEAE) in the order Laminariales. They are a major component of the lower intertidal and sublittoral zones on rocky coasts in temperate and polar waters. Kelp, a kind of SEAWEED, usually refers to species in the genera LAMINARIA or MACROCYSTIS, but the term may also be used for species in FUCUS or Nereocystis.Prader-Willi Syndrome: An autosomal dominant disorder caused by deletion of the proximal long arm of the paternal chromosome 15 (15q11-q13) or by inheritance of both of the pair of chromosomes 15 from the mother (UNIPARENTAL DISOMY) which are imprinted (GENETIC IMPRINTING) and hence silenced. Clinical manifestations include MENTAL RETARDATION; MUSCULAR HYPOTONIA; HYPERPHAGIA; OBESITY; short stature; HYPOGONADISM; STRABISMUS; and HYPERSOMNOLENCE. (Menkes, Textbook of Child Neurology, 5th ed, p229)Dorsomedial Hypothalamic Nucleus: An aggregation of cells in the middle hypothalamus dorsal to the ventromedial nucleus and bordering the THIRD VENTRICLE.Chromosome Breakpoints: The locations in specific DNA sequences where CHROMOSOME BREAKS have occurred.Brain: The part of CENTRAL NERVOUS SYSTEM that is contained within the skull (CRANIUM). Arising from the NEURAL TUBE, the embryonic brain is comprised of three major parts including PROSENCEPHALON (the forebrain); MESENCEPHALON (the midbrain); and RHOMBENCEPHALON (the hindbrain). The developed brain consists of CEREBRUM; CEREBELLUM; and other structures in the BRAIN STEM.Nervous System Diseases: Diseases of the central and peripheral nervous system. This includes disorders of the brain, spinal cord, cranial nerves, peripheral nerves, nerve roots, autonomic nervous system, neuromuscular junction, and muscle.Spasms, Infantile: An epileptic syndrome characterized by the triad of infantile spasms, hypsarrhythmia, and arrest of psychomotor development at seizure onset. The majority present between 3-12 months of age, with spasms consisting of combinations of brief flexor or extensor movements of the head, trunk, and limbs. The condition is divided into two forms: cryptogenic (idiopathic) and symptomatic (secondary to a known disease process such as intrauterine infections; nervous system abnormalities; BRAIN DISEASES, METABOLIC, INBORN; prematurity; perinatal asphyxia; TUBEROUS SCLEROSIS; etc.). (From Menkes, Textbook of Child Neurology, 5th ed, pp744-8)Cohort Studies: Studies in which subsets of a defined population are identified. These groups may or may not be exposed to factors hypothesized to influence the probability of the occurrence of a particular disease or other outcome. Cohorts are defined populations which, as a whole, are followed in an attempt to determine distinguishing subgroup characteristics.Seizures: Clinical or subclinical disturbances of cortical function due to a sudden, abnormal, excessive, and disorganized discharge of brain cells. Clinical manifestations include abnormal motor, sensory and psychic phenomena. Recurrent seizures are usually referred to as EPILEPSY or "seizure disorder."Australia: The smallest continent and an independent country, comprising six states and two territories. Its capital is Canberra.Minichromosome Maintenance 1 Protein: A sequence-specific DNA-binding protein that plays an essential role as a global regulator of yeast cell cycle control. It contains a 56 amino acid MADS-box domain within the N-terminal of the protein and is one of the four founder proteins that structurally define the superfamily of MADS DOMAIN PROTEINS.Health Status: The level of health of the individual, group, or population as subjectively assessed by the individual or by more objective measures.Prevalence: The total number of cases of a given disease in a specified population at a designated time. It is differentiated from INCIDENCE, which refers to the number of new cases in the population at a given time.Cross-Sectional Studies: Studies in which the presence or absence of disease or other health-related variables are determined in each member of the study population or in a representative sample at one particular time. This contrasts with LONGITUDINAL STUDIES which are followed over a period of time.Health Services Needs and Demand: Health services required by a population or community as well as the health services that the population or community is able and willing to pay for.Mutation, Missense: A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)Dendritic Spines: Spiny processes on DENDRITES, each of which receives excitatory input from one nerve ending (NERVE ENDINGS). They are commonly found on PURKINJE CELLS and PYRAMIDAL CELLS.Psychiatric Status Rating Scales: Standardized procedures utilizing rating scales or interview schedules carried out by health personnel for evaluating the degree of mental illness.Cognition: Intellectual or mental process whereby an organism obtains knowledge.Infant, Newborn: An infant during the first month after birth.Genetic Association Studies: The analysis of a sequence such as a region of a chromosome, a haplotype, a gene, or an allele for its involvement in controlling the phenotype of a specific trait, metabolic pathway, or disease.Antibodies, Monoclonal, Murine-Derived: Antibodies obtained from a single clone of cells grown in mice or rats.Chromosomes, Human, Pair 15: A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.Peptostreptococcus: A genus of gram-positive, anaerobic, coccoid bacteria that is part of the normal flora of humans. Its organisms are opportunistic pathogens causing bacteremias and soft tissue infections.Follow-Up Studies: Studies in which individuals or populations are followed to assess the outcome of exposures, procedures, or effects of a characteristic, e.g., occurrence of disease.
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Cervical Vertebrae: The first seven VERTEBRAE of the SPINAL COLUMN, which correspond to the VERTEBRAE of the NECK.Genetic Testing: Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing.Socialization: The training or molding of an individual through various relationships, educational agencies, and social controls, which enables him to become a member of a particular society.Communication: The exchange or transmission of ideas, attitudes, or beliefs between individuals or groups.United StatesInterpersonal Relations: The reciprocal interaction of two or more persons.Mikamycin: An antibiotic complex originally isolated from Streptomyces mitakaenis. It contains two principle ingredients: STREPTOGRAMIN A (mikamycin A) and STREPTOGRAMIN B (mikamycin B).Commodification: The social process by which something or someone comes to be regarded and treated as an article of trade or commerce.Achievement: Success in bringing an effort to the desired end; the degree or level of success attained in some specified area (esp. scholastic) or in general.Mental Health Services: Organized services to provide mental health care.Cost of Illness: The personal cost of acute or chronic disease. The cost to the patient may be an economic, social, or psychological cost or personal loss to self, family, or immediate community. The cost of illness may be reflected in absenteeism, productivity, response to treatment, peace of mind, or QUALITY OF LIFE. It differs from HEALTH CARE COSTS, meaning the societal cost of providing services related to the delivery of health care, rather than personal impact on individuals.Case-Control Studies: Studies which start with the identification of persons with a disease of interest and a control (comparison, referent) group without the disease. The relationship of an attribute to the disease is examined by comparing diseased and non-diseased persons with regard to the frequency or levels of the attribute in each group.Social Security: Government sponsored social insurance programs.Chromosome Disorders: Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)Behavior Therapy: The application of modern theories of learning and conditioning in the treatment of behavior disorders.Age Factors: Age as a constituent element or influence contributing to the production of a result. It may be applicable to the cause or the effect of a circumstance. It is used with human or animal concepts but should be differentiated from AGING, a physiological process, and TIME FACTORS which refers only to the passage of time.Sex Distribution: The number of males and females in a given population. The distribution may refer to how many men or women or what proportion of either in the group. The population is usually patients with a specific disease but the concept is not restricted to humans and is not restricted to medicine.Netherlands: Country located in EUROPE. It is bordered by the NORTH SEA, BELGIUM, and GERMANY. Constituent areas are Aruba, Curacao, Sint Maarten, formerly included in the NETHERLANDS ANTILLES.Parenting: Performing the role of a parent by care-giving, nurturance, and protection of the child by a natural or substitute parent. The parent supports the child by exercising authority and through consistent, empathic, appropriate behavior in response to the child's needs. PARENTING differs from CHILD REARING in that in child rearing the emphasis is on the act of training or bringing up the children and the interaction between the parent and child, while parenting emphasizes the responsibility and qualities of exemplary behavior of the parent.Pain Measurement: Scales, questionnaires, tests, and other methods used to assess pain severity and duration in patients or experimental animals to aid in diagnosis, therapy, and physiological studies.Prejudice: A preconceived judgment made without factual basis.Disease Models, Animal: Naturally occurring or experimentally induced animal diseases with pathological processes sufficiently similar to those of human diseases. They are used as study models for human diseases.Pilot Projects: Small-scale tests of methods and procedures to be used on a larger scale if the pilot study demonstrates that these methods and procedures can work.Socioeconomic Factors: Social and economic factors that characterize the individual or group within the social structure.Chromosomes, Human, Pair 16: A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.Organomercury Compounds: Organic compounds which contain mercury as an integral part of the molecule.Treatment Outcome: Evaluation undertaken to assess the results or consequences of management and procedures used in combating disease in order to determine the efficacy, effectiveness, safety, and practicability of these interventions in individual cases or series.Personality Assessment: The determination and evaluation of personality attributes by interviews, observations, tests, or scales. Articles concerning personality measurement are considered to be within scope of this term.Gene Duplication: Processes occurring in various organisms by which new genes are copied. Gene duplication may result in a MULTIGENE FAMILY; supergenes or PSEUDOGENES.International Classification of Functioning, Disability and Health: The World Health Organization's classification categories of health and health-related domains. The International Classification of Functioning, Disability and Health (ICF) consists of two lists: a list of body functions and structure, and a list of domains of activity and participation. The ICF also includes a list of environmental factors.Mobility Limitation: Difficulty in walking from place to place.Delivery of Health Care: The concept concerned with all aspects of providing and distributing health services to a patient population.Mental Health: The state wherein the person is well adjusted.Imidoesters: Esters of the hypothetical imidic acids. They react with amines or amino acids to form amidines and are therefore used to modify protein structures and as cross-linking agents.Rehabilitation, Vocational: Training of the mentally or physically disabled in work skills so they may be returned to regular employment utilizing these skills.Parent-Child Relations: The interactions between parent and child.Learning: Relatively permanent change in behavior that is the result of past experience or practice. The concept includes the acquisition of knowledge.Agricultural Workers' Diseases: Diseases in persons engaged in cultivating and tilling soil, growing plants, harvesting crops, raising livestock, or otherwise engaged in husbandry and farming. The diseases are not restricted to farmers in the sense of those who perform conventional farm chores: the heading applies also to those engaged in the individual activities named above, as in those only gathering harvest or in those only dusting crops.Sex Offenses: Any violation of established legal or moral codes in respect to sexual behavior.Housing: Living facilities for humans.
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Chromosomes, Artificial, Human: DNA constructs that are composed of, at least, all elements, such as a REPLICATION ORIGIN; TELOMERE; and CENTROMERE, required for successful replication, propagation to and maintainance in progeny human cells. In addition, they are constructed to carry other sequences for analysis or gene transfer.Multiple Sclerosis: An autoimmune disorder mainly affecting young adults and characterized by destruction of myelin in the central nervous system. Pathologic findings include multiple sharply demarcated areas of demyelination throughout the white matter of the central nervous system. Clinical manifestations include visual loss, extra-ocular movement disorders, paresthesias, loss of sensation, weakness, dysarthria, spasticity, ataxia, and bladder dysfunction. The usual pattern is one of recurrent attacks followed by partial recovery (see MULTIPLE SCLEROSIS, RELAPSING-REMITTING), but acute fulminating and chronic progressive forms (see MULTIPLE SCLEROSIS, CHRONIC PROGRESSIVE) also occur. (Adams et al., Principles of Neurology, 6th ed, p903)Community Mental Health Services: Diagnostic, therapeutic and preventive mental health services provided for individuals in the community.Delirium, Dementia, Amnestic, Cognitive Disorders: Cognitive disorders including delirium, dementia, and other cognitive disorders. These may be the result of substance use, trauma, or other causes.Mothers: Female parents, human or animal.Interviews as Topic: Conversations with an individual or individuals held in order to obtain information about their background and other personal biographical data, their attitudes and opinions, etc. It includes school admission or job interviews.Hyperprolactinemia: Increased levels of PROLACTIN in the BLOOD, which may be associated with AMENORRHEA and GALACTORRHEA. Relatively common etiologies include PROLACTINOMA, medication effect, KIDNEY FAILURE, granulomatous diseases of the PITUITARY GLAND, and disorders which interfere with the hypothalamic inhibition of prolactin release. Ectopic (non-pituitary) production of prolactin may also occur. (From Joynt, Clinical Neurology, 1992, Ch36, pp77-8)Schizophrenia: A severe emotional disorder of psychotic depth characteristically marked by a retreat from reality with delusion formation, HALLUCINATIONS, emotional disharmony, and regressive behavior.Social Environment: The aggregate of social and cultural institutions, forms, patterns, and processes that influence the life of an individual or community.Low Back Pain: Acute or chronic pain in the lumbar or sacral regions, which may be associated with musculo-ligamentous SPRAINS AND STRAINS; INTERVERTEBRAL DISK DISPLACEMENT; and other conditions.Analysis of Variance: A statistical technique that isolates and assesses the contributions of categorical independent variables to variation in the mean of a continuous dependent variable.Time Factors: Elements of limited time intervals, contributing to particular results or situations.Great BritainPregnancy: The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.Angioplasty, Balloon: Use of a balloon catheter for dilation of an occluded artery. It is used in treatment of arterial occlusive diseases, including renal artery stenosis and arterial occlusions in the leg. For the specific technique of BALLOON DILATION in coronary arteries, ANGIOPLASTY, BALLOON, CORONARY is available.

*  Fragile X is a common cause of autism and intellectual disability: UC Davis Health System
Intellectual abilities range from a normal IQ with subtle learning disabilities to severe intellectual disability. Female ... Fragile X is a common cause of autism and intellectual disability. Checkup on Health. Fragile X syndrome is the most common ... About 80 percent of boys with fragile X syndrome demonstrate intellectual disability, compared to about one third of females. ... In addition, anyone who has even a distant family member with unexplained intellectual disability or autism should seek genetic ...
  http://www.ucdmc.ucdavis.edu/welcome/features/2012-2013/08/20120822_fragile-X.html
*  Brief History and Future of Intellectual Disability Services in America
... intellectual disability, describes a broad and diverse group of individuals. Intellectual disability, while being inclusive of ... Brief History and Future of Intellectual Disability Services in America Details Scott Spreat 23 March 2017 Government/Policy ... This disability originates before age 18."1. The intellectual and developmental disability sector has seen tremendous positive ... "Intellectual disability is characterized by significant limitations both in intellectual functioning and in adaptive behavior ...
  http://socialinnovationsjournal.org/sectors/89-government-policy/2350-brief-history-and-future-of-intellectual-disability-services-in-america
*  British Library EThOS: Beliefs and attitudes towards intellectual disability within the UK Pakistani community as perceived by...
Lastly, the effects of having a child with an intellectual disability on parenting and family life are outlined. The findings ... Beliefs and attitudes towards intellectual disability within the UK Pakistani community as perceived by key community members ... Part 1 is a literature review investigating South Asian parents' perceptions of their child's intellectual disability, its ... Secondly, their perceptions of the causes, symptoms and prognosis of their child's intellectual disability are presented. ...
  http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.587601
*  Mental retardation, CASK-related, X-linked - Conditions - GTR - NCBI
The males have mild to severe intellectual disability, with or without nystagmus and other ocular features. Females are ... MICPCH is typically seen in females with moderate to severe intellectual disability, progressive microcephaly with or without ... These males typically present with intellectual disability and MICPCH, or early-infantile epileptic encephalopathy (Ohtahara ... the clinical phenotype is usually that of X-linked intellectual disability (XLID) with or without nystagmus and additional ...
  https://www.ncbi.nlm.nih.gov/gtr/conditions/C2749054/
*  Intellectual disability and its effects on society
... intellectual disability. The articles touch upon a broad range of aspects of intellectual disability, including ... of people with intellectual disability.14. The body of international literature reporting research on intellectual disability ... trained to identify and manage intellectual disability properly. Intellectual disability is most successfully managed in a ... We are thus pleased to present a special issue of the journal Salud Pública de México, entitled "Intellectual disability". This ...
  http://www.scielo.org.mx/scielo.php?script=sci_arttext&pid=S0036-36342008000800001&lng=es&nrm=iso&tlng=en
*  Comparing rates of psychiatric and behavior disorders in adolescents and young adults with severe intellectual disability with...
in Adolescents and Young Adults with Severe Intellectual. Disability with and without Autism. Elspeth A. Bradley,1,5 Jane A. ... Recent ad- The term "intellectual disability" is used synonymously with mental vances in the field of genetics have paved the ... The DASH-II was administered as per with severe and profound intellectual disability was the protocol outlined in the manual. ... As a result, there severe intellectual disability, although there has been is mounting evidence that some syndromes (e.g., Down ...
  http://findmedarticle.com/a/autism.medicine.dal.ca1.html
*  Effects of stressors, internal resources, and coping stragegies on the adaptation of families of children with a mental handicap
Children with mental disabilities -- Family relationships ( fast ). Parents of children with disabilities ( fast ). Stress ( ... addition to focusing on the intellectual level and gender of. the child, research on stress in families must consider the. ... Parents of children with disabilities ( lcsh ). Stress (Psychology) -- Management ( lcsh ). Children with mental disabilities ... employed by families of children with disabilities (D) and. without disabilities (ND). Moreover, these relationships. were ...
  http://ufdc.ufl.edu/AA00026341/00001
*  Disruption at the PTCHD1 Locus on Xp22.11 in Autism Spectrum Disorder and Intellectual Disability | Science Translational...
In 900 probands with ASD and 208 male probands with intellectual disability, we identified seven different missense changes (in ... Mutations of the X-linked gene PTCHD1 are associated with autism spectrum disorders and intellectual disability. ... Mutations of the X-linked gene PTCHD1 are associated with autism spectrum disorders and intellectual disability. ... Disruption at the PTCHD1 Locus on Xp22.11 in Autism Spectrum Disorder and Intellectual Disability ...
  http://stm.sciencemag.org/content/2/49/49ra68
*  Intellectual Disabilities | Disability Information | Workbridge
Intellectual Disabilities. What are intellectual disabilities?. Intellectual disabilities affect people's intellectual capacity ... Health Indicators for New Zealanders with Intellectual Disability.. Intellectual disabilities are different from learning ... How do intellectual disabilities affect people in employment?. Many people with intellectual impairments want to work and make ... Intellectual disabilities are also not a form of mental health problem such as depression or schizophrenia, which can present ...
  http://workbridge.co.nz/employers/employer-resources/disability-information/intellectual-disabilities/
*  A study of behaviour problems and psychiatric disorders among people with intellectual disability
Psychiatric disorders and behavior problems in people with intellectual disability. Research in Developmental Disabilities, 29 ... Journal of Mental Health Research in Intellectual Disabilities, 1, 205-222.. 2. Myrbakk, E. & von Tetzchner, S. (2008) ... A total of one hundred and eighty-one individuals with intellectual disability living in the counties of Nordland, Troms and ... A study of behaviour problems and psychiatric disorders among people with intellectual disability. Myrbakk, Even ...
  https://www.duo.uio.no/handle/10852/18430
*  Research suggests that autism and intellectual disability have largely independent causes
"Autism and intellectual disability often occur together, and this has made many researchers think that the conditions must ... Research suggests that autism and intellectual disability have largely independent causes. research finds autism traits are ... This contrasts with figures from clinics, which suggest that intellectual disability is common in people with an autism ... The findings indicate that the characteristics of autism and intellectual disability are largely independent of each other. ...
  http://www3.open.ac.uk/media/fullstory.aspx?id=18253&filter=research
*  Teaching Strategies For Students With Severe Intellectual Disabilities - Teaching Strategies
Teaching Students With Intellectual Disabilities Tips And Strategies. Teaching Students With Intellectual Disabilities To Read ... Teach Yourself Photography Pdf Teaching Students With Intellectual Disabilities → Leave a Reply Cancel reply. ... Teaching Strategies For Students With Severe Intellectual Disabilities. By admin , December 5, 2017 ... Vocabulary Reading Lesson For Students With Severe Intellectual. Severe Profound General Learning Disability Special Education ...
  http://teaching.zikitbooks.com/teaching-strategies-for-students-with-severe-intellectual-disabilities/
*  What is an intellectual disability? | NBACL
What is an intellectual disability?. Category: General An intellectual disability (also commonly referred to as a developmental ... It is a disability that is present during childhood and continues throughout one's life. A person who has an intellectual ... Examples of an intellectual disability might include someone who has Down Syndrome, Autism, Fetal Alcohol Syndrome, or another ... you are helping to support children and adults with an intellectual disability throughout each milestone of their lives. ...
  https://nbacl.nb.ca/faq/what-is-an-intellectual-disability/
*  Intellectual Disability: References
American Association on Intellectual and Developmental Disabilities. (2013). Definition of intellectual disability. Retrieved ... Understanding the change to the term Intellectual Disability. Intellectual and Developmental Disabilities, 45, 116-124. ... Visual impairment in adult people with intellectual disability: Literature review. Journal of Intellectual Disability Research ... Prevalence of intellectual disability: A meta-analysis of population-based studies. Research in Developmental Disabilities, 32, ...
  http://www.asha.org/PRPSpecificTopic.aspx?folderid=8589942540§ion=References
*  Intellectual Disability Content Development
n.d.). Intellectual Disability. (Practice Portal). Retrieved month, day, year, from www.asha.org/Practice-Portal/Clinical- ... Intellectual Disability Content Development. Acknowledgments Content for ASHA's Practice Portal is developed through a ... its gratitude to the following subject matter experts who were involved in the development of the Intellectual Disability page ... Hoc Committee to Review/Revise Current Practice and Policy Documents Related to Mental Retardation/Developmental Disabilities, ...
  http://www.asha.org/Practice-Portal/Clinical-Topics/Intellectual-Disability/Intellectual-Disability-Content-Development/
*  Intellectual Disability
This Course is designed for students with intellectual disabilities. The curriculum includes development of basic skills in the ...
  http://smc.edu/StudentServices/DisabilityResources/Pages/Intellectual-Disability.aspx
*  intellectual disability nurses working internationally? | allnurses
... mental retardation or learning disabilities). I work in this sector and in nursing homes. I am wondering how an ... I am an irish trained intellectual disability nurse (others call it,mental handicap, ... I am an irish trained intellectual disability nurse (others call it,mental handicap,mental retardation or learning disabilities ... intellectual disability nurses working internationally? Help Select the $100 Cartoon Caption Winner! ...
  http://allnurses.com/international-nursing/intellectual-disability-nurses-508724.html
*  Intellectual Disability (Mental Retardation) Symptoms - Psych Central
It includes intellectual deficits and difficulty functioning in daily life in areas such as communication, self-care, home ... Intellectual disability, formerly known as 'mental retardation,' is a disorder with onset during the developmental period. ... Home » Disorders » Intellectual Disability (Mental Retardation) Symptoms Intellectual Disability (Mental Retardation) Symptoms ... Intellectual disability has many different etiologies and may be seen as a final common pathway of various pathological ...
  https://psychcentral.com/disorders/mental-retardation-symptoms/?all=1
*  intellectual disabilities
People with disabilities are living for longer and as a result we are seeing more people with intellectual disabilities than ... intellectual disabilities, law, parenting, special education, teenagers Karen Watchman on Intellectual Disability and Dementia ... disability, disability law, education, high functioning autism, homeschooling, inclusive classroom, intellectual disabilities, ... What should staff or carers be aware of in order to be able to support people with an intellectual disability and dementia?. ...
  http://www.jkp.com/jkpblog/tag/intellectual-disabilities/
*  Phys.org - intellectual disability
Phys.org internet news portal provides the latest news on science including: Physics, Space Science, Earth Science, Health and Medicine
  https://phys.org/tags/intellectual+disability/sort/popular/1m/
*  Executive Act on Intellectual Disabilities
... Executive Order 12994 By the authority vested in me as President by the Constitution ... "intellectual disabilities" in lieu thereof throughout the text of that order, except in the title, the first line of the ... "and renamed the Presidents Committee for People with Intellectual Disabilities (the "Committee"),". Sec. 4. Section 2 of ... "Presidents Committee for People with Intellectual Disabilities" (the "Committee") and expand the membership of the Committee, ...
  https://georgewbush-whitehouse.archives.gov/news/releases/2003/07/20030725-12.html
*  How to Interact With Someone With an Intellectual Disability
... There are many people in the world; millions you don't know, and ... You may find out they have an intellectual disability. You want to be friends, but you don't know what to do. This article ... How to Interact With Someone With an Intellectual Disability. There are many people in the world; millions you don't know, and ... Allow them to handle themselves. They are capable adults, and even if they have some learning or mental disabilities, they ...
  https://www.wikihow.com/Interact-With-Someone-With-an-Intellectual-Disability
*  Genetics of X‐Linked Intellectual Disability
... refers to a group of inherited disorders characterised by varying degrees of intellectual disability caused by mutations in ... linked intellectual disability; syndromic X‐linked intellectual disability; nonsyndromic X‐linked intellectual disability; ... linked intellectual disability: unique vulnerability of the male genome. Developmental Disabilities Research Reviews 15: 361- ... X‐linked intellectual disability (XLID), formerly called mental retardation, refers to a group of inherited disorders ...
  http://www.els.net/WileyCDA/ElsArticle/refId-a0020231.html
*  Epilepsy and intellectual disabilities by Vee Prasher | LibraryThing
All about Epilepsy and intellectual disabilities by Vee Prasher. LibraryThing is a cataloging and social networking site for ...
  http://www.librarything.com/work/18765366
*  Intellectual Disability Health Care Practice | Prospects.ac.uk
... fees and contact details for Intellectual Disability Health Care Practice at Dublin City University on prospects.ac.uk ... Intellectual Disability Health Care Practice. Institution. Dublin City University · Faculty Of Science and Health. ... Intellectual Disability Health Care Practice. Institution. Dublin City University · Faculty Of Science and Health. ... intellectual disability & concurrent mental health problems, care of the older person or care of the child and adolescent. ...
  https://www.prospects.ac.uk/universities/dublin-city-university-3731/faculty-of-science-and-health-9249/courses/intellectual-disability-health-care-practice-120920

Hyperphosphatasia with mental retardation syndrome: Hyperphosphatasia with mental retardation syndrome, HPMRS, also known as Mabry syndrome, has been described in patients recruited on four continents world-wide. Mabry syndrome was confirmed to represent an autosomal recessive syndrome characterized by severe mental retardation, considerably elevated serum levels of alkaline phosphatase, hypoplastic terminal phalanges, and distinct facial features that include: hypertelorism, a broad nasal bridge and a rectangular face.International Disability and Development Consortium: The International Disability and Development Consortium (IDDC) is a global consortium of disability and development related organisations. The aim of IDDC is to promote inclusive development internationally, with a special focus on promoting human rights for all disabled people living in economically poor communities in lower and middle-income countries.United States–Thailand Free Trade Agreement: President George W. Bush and Prime Minister Thaksin Shinawatra announced the intention to negotiate a US-Thailand free trade agreement on October 19, 2003 during President Bush's state visit to Thailand on the event of the APEC Leaders' meeting in Bangkok.Multiple disabilitiesList of diseases (X): This is a list of diseases starting with the letter "X".Developmental Disability (California): In California, Developmental Disabilitymeans a disability that is attributable to mental retardation], [[cerebral palsy, epilepsy, autism, or disabling conditions found to be closely related to mental retardation or to require treatment similar to that required for individuals with mental retardation.
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Horace FletcherNanometre: The nanometre (International spelling as used by the International Bureau of Weights and Measures; SI symbol: nm) or nanometer (American spelling) is a unit of length in the metric system, equal to one billionth of a metre ( m) . The name combines the SI prefix nano- (from the Ancient Greek , , "dwarf") with the parent unit name metre (from Greek , , "unit of measurement").COPE FoundationRipazepamGlycine/sarcosine/dimethylglycine N-methyltransferase: Glycine/sarcosine/dimethylglycine N-methyltransferase (, GSDMT, glycine sarcosine dimethylglycine N-methyltransferase) is an enzyme with system name S-adenosyl-L-methionine:glycine(or sarcosine or N,N-dimethylglycine) N-methyltransferase (sarcosine(or N,N-dimethylglycine or betaine)-forming). This enzyme catalyses the following chemical reactionLearning Disability Coalition: The Learning Disability Coalition is a group of fourteen organisations which campaigns to secure better funding for social care for people with learning disabilities in England.Coalition was formed in May 2007.National Down Syndrome SocietySherman paradox: The Sherman Paradox refers to an anomalous pattern of inheritance found in Fragile X syndrome. The phenomenon is also referred to as anticipation or dynamic mutation.Relationship Development Intervention: Relationship Development Intervention (RDI) is a trademarked proprietary treatment program for autism spectrum disorders (ASD), based on the belief that the development of dynamic intelligence is the key to improving the quality of life for individuals with autism. The program's core philosophy is that individuals with autism can participate in authentic emotional relationships if they are exposed to them in a gradual, systematic way.Meredith EatonEpicanthic fold: Epicanthic fold (), epicanthal fold, epicanthus, or simply eye fold are names for a skin fold of the upper eyelid, covering the inner corner (medial canthus) of the eye. Other names for this trait include plica palpebronasalis and palpebronasal fold..Mental disorderExome: The exome is the part of the genome formed by exons, the sequences which when transcribed remain within the mature RNA after introns are removed by RNA splicing. It consists of all DNA that is transcribed into mature RNA in cells of any type as distinct from the transcriptome, which is the RNA that has been transcribed only in a specific cell population.Glossary of communication disorders: This is a glossary of medical terms related to communications disorders such as blindness and deafness.Epilepsy Research UK: Epilepsy Research UK is a British medical research charity dedicated to curing epilepsy.Key word signing: Key word signing is a technique of Simultaneous Communication whereby the communication partner of the user will use both natural speech and also produce signs for the words that carry the most important information.Windsor, J.
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Bristol Activities of Daily Living Scale: The Bristol Activities of Daily Living Scale (BADLS) is a 20-item questionnaire designed to measure the ability of someone with dementia to carry out daily activities such as dressing, preparing food and using transport.Low copy repeats: Low copy repeats (LCRs), also known as segmental duplications (SDs), are highly homologous sequence elements within the eukaryotic genome. They are typically 10–300 kb in length, and bear greater than 95% sequence identity.Malformative syndrome: A malformative syndrome (or malformation syndrome) is a recognizable pattern of congenital anomalies that are known or thought to be causally related (VIIth International Congress on Human Genetics).Microcephaly lymphoedema chorioretinal dysplasia: Microcephaly lymphoedema chorioretinal dysplasia (MLCRD) is a genetic condition associated with:Special education in the United Kingdom: 'Special Educational Needs' is an umbrella term for an aspect of UK school education focusing on students primarily with learning difficulties and/or disability. In school documents, it is abbreviated to 'SEN' / 'SEND' – these abbreviations are also used in Commonwealth countries such as Australia and Singapore.Otto Allen Will, Jr.: Otto Allen Will, Jr. (April 26, 1910 – November 17, 1993) was a U.Gold mining in Western Australia: 4.6 million ounces (142,519 kg)Human Nature (America album): Human Nature is the fourteenth original studio album by American folk rock duo America, released by Oxygen Records in 1998 (see 1998 in music). It was their first new studio album since 1994's "Hourglass".Journal of Inherited Metabolic Disease: The Journal of Inherited Metabolic Disease is a peer-reviewed medical journal covering inherited metabolic disorders. It was established in 1978 and is the official journal of the Society for the Study of Inborn Errors of Metabolism.Bile acid:sodium symporter: This family of proteins are found both in prokaryotes and eukaryotes. They are related to the human bile acid:sodium symporters, which are transmembrane proteins functioning in the liver in the uptake of bile acids from portal blood plasma, a process mediated by the co-transport of Na+.Cousin couple: A cousin couple is a pair of cousins who are involved in a romantic or sexual relationship.Brian Steel: Brian Charles Steel is a photographer based in Atlanta, Georgia, known for his lyrical and sympathetic portrayals of individuals with disabilities. He was diagnosed as an infant with a rare muscle disorder that left him handicapped, inspiring him to create art that belies his condition.Glass ionomer cement: A glass ionomer cement is a dental restorative material used in dentistry for dental fillings and luting cements. These materials are based on the reaction of silicate glass powder and polyalkenoic acid, an ionomer.Postoperative cognitive dysfunction: Postoperative cognitive dysfunction (POCD) is a short-term decline in cognitive function (especially in memory and executive functions) that may last from a few days to a few weeks after surgery. In rare cases, this disorder may persist for several months after major surgery.Pedigree chart: A pedigree chart is a diagram that shows the occurrence and appearance or phenotypes of a particular gene or organism and its ancestors from one generation to the next,pedigree chart Genealogy Glossary - About.com, a part of The New York Times Company.Sharp McDonald CenterThe Focus Foundation: The Focus Foundation, located in Davidsonville, Maryland, is a research agency that identifies and helps children who have X & Y Variations (also called X & Y chromosomal variations), dyslexia and/or developmental coordination disorder, conditions that lead to language-based disabilities, motor planning deficits, reading dysfunction, and attention and behavioral disorders. The Focus Foundation believes that through increased awareness, early identification and syndrome-specific treatment, children with these conditions can reach their full potential.DHRS7B: Dehydrogenase/reductase (SDR family) member 7B is an enzyme encoded by the DHRS7B gene in humans, found on chromosome 17p11.2.China–Syria relations: China–Syria relations are foreign relations between China and Syria. Diplomatic relations between both countries were established on August 1, 1956.Closed-ended question: A closed-ended question is a question format that limits respondents with a list of answer choices from which they must choose to answer the question.Dillman D.Phenotype microarray: The phenotype microarray approach is a technology for high-throughput phenotyping of cells.Opsismodysplasia
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Austin B. Williams: Austin Beatty Williams (October 17, 1919 – October 27, 1999) was an American carcinologist, "the acknowledged expert on and leader in studies of the systematics of eastern American decapod crustaceans".}}Pensioner: A pensioner is a person who collects a pension, most commonly because of a retirement from the workforce. This is a term typically used in the United Kingdom, Ireland and Australia where someone of pensionable age may also be referred to as an 'old age pensioner', or OAP.ClopenthixolLanguage delay: Language delay is a failure in children to develop language abilities on the usual age appropriate for their developmental timetable. Language delay is distinct from speech delay, in which the speech mechanism itself is the focus of delay.Frontonasal dysplasia: Frontonasal dysplasia (FND) (also known as median cleft face syndrome, frontonasal dysostosis, frontonasal malformation or Tessier cleft number 0/14) is a congenital malformation of the midface.Lenyoun EH, Lampert JA, Xipoleas GD, Taub PJ (2011) Salvage of calvarial bone graft using acellular dermal matrix in nasal reconstruction and secondary rhinoplasty for frontonasal dysplasia.Masuzo Shikata: Masuzo Shikata (Tokyo, August 10, 1895 – May 8, 1964) was a Japanese chemist and one of the pioneers in electrochemistry. Together with his mentor and colleague, Czech chemist and inventor Jaroslav Heyrovský, he developed the first polarograph, a type of electrochemical analyzing machine, and co-authored the paper which introduced the machine and the name "polarograph".Tel Aviv Sourasky Medical Center: Tel Aviv Sourasky Medical Center (commonly referred to as Ichilov Hospital) is the main hospital serving Tel Aviv, Israel, and its metropolitan area. It is the third-largest hospital complex in the country.Foot rot: Foot rot, or infectious pododermatitis, is a hoof infection commonly found in sheep, goats, and cattle. As the name suggests, it rots away the foot of the animal, more specifically the area between the two toes of the affected animal.Genetics of social behavior: The genetics of social behavior is an area of research that attempts to address the question of the role that genes play in modulating the neural circuits in the brain which influence social behavior. Model genetic species, such as D.EctrodactylySilent mutation: Silent mutations are mutations in DNA that do not significantly alter the phenotype of the organism in which they occur. Silent mutations can occur in non-coding regions (outside of genes or within introns), or they may occur within exons.Comorbidity: In medicine, comorbidity is the presence of one or more additional disorders (or diseases) co-occurring with a primary disease or disorder; or the effect of such additional disorders or diseases. The additional disorder may also be a behavioral or mental disorder.Parent structure: In IUPAC nomenclature, a parent structure, parent compound, parent name or simply parent is the denotation for a compound consisting of an unbranched chain of skeletal atoms (not necessarily carbon), or consisting of an unsubstituted monocyclic or polycyclic ring system.David Rees Griffiths: David Rees Griffiths (November 6, 1882 – December 17, 1953), also known by his bardic name of Amanwy, was a Welsh poet, and an older brother of politician Jim Griffiths.F-15,599Lessonia nigrescens: Lessonia nigrescens, the grey weed or giant grey weed, is a South American kelp species in the genus Lessonia.Prader–Willi syndromeDorsomedial hypothalamic nucleus: The dorsomedial hypothalamic nucleus is a nucleus of the hypothalamus. It is involved in feeding, drinking, body-weight regulation and circadian activity.PEHO syndrome: PEHO syndrome is a progressive encephalopathy with edema, hypsarrhythmia and optic atrophy. It is a very rare disease, one of the Finnish heritage diseases, and has been reported also in Dutch and Swiss infants.Psychogenic non-epileptic seizures

(1/2787) A performance-based lottery to improve residential care and training by institutional staff.

Two experiments were conducted on four units of a residential facility for the multiply-handicapped retarded in an attempt to improve daily care and training services. Experiment I compared the effects of two procedures in maintaining the work performance of attendants, using an A-B design on two units. One procedure consisted of implementing specific staff-resident assignments, the other consisted of allowing attendants who had met performance criteria to be eligible for a weekly lottery in which they could win the opportunity to rearrange their days off for the following week. Results showed that the lottery was a more effective procedure as measured by the per cent of time attendants engaged in predefined target behaviors, and by their frequency of task completion in several areas of resident care. Experiment II replicated and extended these results to the area of work quality on two additional units, using a multiple-baseline design. The performance lottery was found to be an effective econimical procedure that could be implemented by supervisory staff on a large scale.  (+info)

(2/2787) The effects of social punishment on noncompliance: a comparison with timeout and positive practice.

The effects of social punishment, positive practice, and timeout on the noncompliant behavior of four mentally retarded children were assessed in a multitreatment withdrawal design. When programmed, the experimental procedure occurred contigent on non-compliance to experimenter-issued commands. Commands were given at 55-sec intervals throughout each experimental session. The results showed (1) lower levels of noncompliance with social punishment than with the positive-practice or timeout conditions, and (2) that relatively few applications of social punishment were required to obtain this effect. The advantages of social punishment over other punishment procedures, considerations to be made before using it, and the various aspects of the procedure that contribute to its effectiveness were discussed.  (+info)

(3/2787) A new X linked neurodegenerative syndrome with mental retardation, blindness, convulsions, spasticity, mild hypomyelination, and early death maps to the pericentromeric region.

We report on a family with an X linked neurodegenerative disorder consisting of mental retardation, blindness, convulsions, spasticity, and early death. Neuropathological examination showed mild hypomyelination. By linkage analysis, the underlying genetic defect could be assigned to the pericentromeric region of the X chromosome with a maximum lod score of 3.30 at theta=0.0 for the DXS1204 locus with DXS337 and PGK1P1 as flanking markers.  (+info)

(4/2787) Insulin dependent diabetes mellitus (IDDM) and autoimmune thyroiditis in a boy with a ring chromosome 18: additional evidence of autoimmunity or IDDM gene(s) on chromosome 18.

A 4 year 3 month old boy with insulin dependent diabetes mellitus (IDDM), autoimmune thyroiditis, slight mental retardation, facial dysmorphism, and a de novo ring chromosome 18 (deletion 18q22.3-18qter) is described. This unique association of defects could represent a chance association. Alternatively, the clinical features could be the result of the chromosomal aberration. If so, one could speculate that a gene or genes on chromosome 18 might act as a suppressor or activator of the autoimmune process by itself or in concert with other IDDM loci.  (+info)

(5/2787) Dilemmas in counselling females with the fragile X syndrome.

The dilemmas in counselling a mildly retarded female with the fragile X syndrome and her retarded partner are presented. The fragile X syndrome is an X linked mental retardation disorder that affects males and, often less severely, females. Affected females have an increased risk of having affected offspring. The counselling of this couple was complicated by their impaired comprehension which subsequently impaired their thinking on the different options. The woman became pregnant and underwent CVS, which showed an affected male fetus. The pregnancy was terminated. Whether nondirective counselling for this couple was the appropriate method is discussed and the importance of a system oriented approach, through involving relatives, is stressed.  (+info)

(6/2787) The Dyggve-Melchior-Clausen syndrome.

Two new cases of Dyggve-Melchior-Clausen syndrome are described; they belong to the fourth family from Lebanon in which this disease has been recognized. There is no genealogical linkage between these four families. A particular feature in these cases is a striking rhizomelic shortness of the arms especially in one case. Clinical and radiological findings, progression of the skeletal changes are studied, along with the review of the cases in the literature. Cytological and biochemical data indicate that the DMC syndrome is not a mucopolysaccharidosis.  (+info)

(7/2787) Quantitative morphological studies of developing human cerebellar cortex in various disease states.

A quantitative morphological assessment was carried out of the cellularity and staining properties of the cells of the layers of the human cerebellar cortex, both in the normal child and in 41 children suffering from a series of disorders including mental retardation. A computerized image analyser and highly standardized procedures were used. All of the cases of mental retardation and some cases with congenital cardiac anomalies showed abnormal cell concentrations and staining properties. 3 cases of 'cot death' also showed abnormal results. These findings are presented as a new measurable aspect of brain disease, and as a indication for further study.  (+info)

(8/2787) Severe mental retardation in a boy with partial trisomy 10q and partial monosomy 2q.

A severely mentally subnormal child with many physical stigmata was shown to have the karyotype 46,XY,-2,+der(2),t(2;10)(q31;q24)pat. Full evaluation of this patient's karyotype depended on the family studies. It was shown that a balanced translocation t(2,10) was present in 4 normal males in 3 generations.  (+info)



  • Sports Federation
  • As a result of the increase in participation and interest in the disability during the late 1960s, then president of the Spanish Olympic Committee Juan Antonio Samaranch directed Guillermo Cabezas to create the Spanish Sports Federation for the Physically Disabled. (wikipedia.org)
  • FEDDI was originally named Spanish Sports Federation for Intellectual Disability (Spanish: Federación Española de Deportes para la Discapacidad Intelectual). (wikipedia.org)
  • support
  • These can include increased vulnerability, questions around ability to consent to sexual activities, differential treatment before the law, social attitudes about intellectual disability and sexuality, and restricted access to suitable support and recovery services. (wikipedia.org)
  • Social support can be a crucial component for students with specific learning disabilities in the school system. (wikipedia.org)
  • Organizations
  • Spanish Federation of Sportspeople with the Intellectually Disabilities (Spanish: Federación Española de Deportes para Discapacitados Intelectuales (FEDDI)) is one of five disability sport organizations that deals with sport on the national level. (wikipedia.org)
  • Eventually, changes in response to the law assisted in creating a landscape that resulted in the creation of several national Spanish disability sport organizations including this one, which was created in 1993. (wikipedia.org)
  • Person
  • Also know that the disabled person in question may feel that they are being put down by your altruistic efforts, or drawing attention to their disability. (wikihow.com)
  • However, the intellectual abilities of a person with a brain injury are likely to be interfered with by the resulting thought coordination and communication difficulties, which can make it difficult for them to express themselves in a manner intelligible to others. (wikipedia.org)