Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0004352 (autism)
 32,579 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

More than 30,000 Norwegians are mentally retarded and about 50% of them are severely retarded and often multihandicapped. Before 1975 the majority of the severely retarded resided in large institutions. New legislation has led to an increasing emphasis on decentralization and integration in local communities. Mental retardation is caused by prenatal brain damage in 90% of the cases. Chromosomal aberrations like Down and Fragile-X syndromes are the most common causes. A high proportion of individuals with autism, cerebral palsy, epilepsy and sensory defects are mentally retarded, and the most common additional diagnoses in mental retardation are speech defects, epilepsy, cerebral palsy, congenital heart disease, sight and hearing impairment and hydrocephalus. Almost 1/3 of the mentally retarded adults have developed psychiatric disturbances. Families with mentally retarded children are affected emotionally, socially and economically, and the burden increases as the mentally retarded individual grows older.
 ...
PMID:[The mentally retarded dental patients. Who are they?]. 183 92

From a population-based series of children with Infantile Hydrocephalus (IH) 69 patients (mean age 11.7 years) were examined with respect to the occurrence of autistic symptoms. Autistic symptomatology was evaluated according to a modified short Swedish version of the so-called Autism Behavior Checklist. Sixteen of the 69 IH children (23%) reached a score which was considered indicative of autistic symptoms (AS) in the child. This group was compared with the remaining 53 IH children without autistic symptoms (non AS). Significant differences were found between these two groups with respect to aetiological and clinical data. In the AS group 44% were born preterm as compared to 9% in the non AS group. CT scan showed major abnormalities in 64% of the AS children while this was present in 28% in the non AS group. The occurrence of major neuroimpairments--epilepsy, mental retardation and cerebral palsy--was 50%, 88% and 50% in the AS group as compared to 9%, 23% and 19% respectively in the non AS group. It was concluded that the more severe the brain damage in children with IH the more likely that autistic symptomatology would ensue. This implies that specific neuropsychiatric services to these families are required.
 ...
PMID:Autistic symptoms in children with infantile hydrocephalus. 205 95

We propose a critical review of current theories of developmental pragmatics. The underlying assumption is that such a theory ought to account for both normal and abnormal development. From a clinical point of view, we are concerned with the effects of brain damage on the emergence of pragmatic competence. In particular, the paper deals with direct speech acts, indirect speech acts, irony, and deceit in children with head injury, closed head injury, hydrocephalus, focal brain damage, and autism. Since no single theory covers systematically the emergence of pragmatic capacity in normal children, it is not surprising that we have not found a systematic account of deficits in the communicative performance of brain injured children. In our view, the challenge for a pragmatic theory is the determination of the normal developmental pattern within which different pragmatic phenomena may find a precise role. Such a framework of normal behavior would then permit the systematic study of abnormal pragmatic development.
 ...
PMID:Developmental pragmatics in normal and abnormal children. 1044 Nov 91

Although considered a relatively new subspecialty, child neurology traces its origins to the Hippocratic descriptions of seizures and other neurologic conditions in children. Its true beginnings can be traced to the 1600s and 1700s with classical descriptions of chorea, hydrocephalus, spina bifida, and polio. It was, however, the remarkable clinical and scientific advances in neurology and pediatrics at the end of the 19th century that helped create its scientific foundation. Like other pediatric disciplines, child neurology evolved into a distinct clinical and scientific specialty early in the 20th century. Remarkable advances in the neurosciences, particularly in the fields of genetics, molecular biology, metabolism, immunology and nutrition, have greatly advanced our understanding of how the brain develops and responds to environmental influences. Advances in neuroimaging, electroencephalography, electromyography, muscle histology, biochemistry, and neuropharmacology have considerably improved our ability to evaluate and treat children with neurological disorders. These advances have allowed new and expanding approaches, unique to children, in the fields of epilepsy, neurodegenerative and neurometabolic disorders, nervous system infections, demyelinating diseases and tumors, neonatal neurological conditions, and neuromuscular diseases. They have also led to a better understanding of the neurobiologic basis of common problems such as global developmental delay, cerebral palsy, and autism. As remarkable as the advances have been in the past century, the accelerating pace of our understanding of the fundamental mechanisms responsible for brain development will lead to even greater achievements in the clinical care of children with neurological disorders in the 21st century
 ...
PMID:Child neurology in the 20th century. 1253 97

A population-based survey was conducted among 152,732 Finnish children and adolescents aged under 16 years and living in northern Finland. Diagnoses and associated medical conditions were derived from the hospital and institutional records of this area. One hundred and eighty-seven children with DSM-IV autistic disorder were identified. Associated medical disorders or associated disorders of known or suspected genetic origin were found in 12.3 percent, including tuberous sclerosis, Down syndrome, fragile X syndrome, Klinefelter syndrome, XYY syndrome, chromosome 17 deletion, chromosome 46, XX, dup(8) (p) and mitochondriopathy. Other associated medical disorders identified were epilepsy, hydrocephalus, foetal alcohol syndrome and cerebral palsy. Hearing impairments were found in 8.6 percent and severe impairment of vision in 3.7 percent of the individuals with autistic disorder. Medical disorders seem to have a special impact on the genesis of autistic disorder and need to be thoroughly examined in each child with autistic disorder.
Autism 2004 Mar
PMID:Associated medical disorders and disabilities in children with autistic disorder: a population-based study. 1507 May 47

Macrocephaly is associated with many genetic disorders and is a frequent cause of referral to the clinical geneticist. In this review we classify the commonly encountered macrocephaly disorders into useful categories and summarize recent genetic advances. Conditions where macrocephaly is a predominant aspect of the clinical presentation are discussed and a diagnostic approach to the common macrocephaly disorders is provided. Some emphasis is placed on familial macrocephaly (sometimes referred to as benign external hydrocephalus) and on the macrocephaly associated with autism spectrum disorders. The more recent conditions associated with the leukodystrophies and the organic acidurias are reviewed, but the well known conditions involving storage disorders and bone dysplasias are mentioned but not discussed. The genetic macrocephaly conditions cover a broad spectrum of gene disorders and their related proteins have diverse biological functions. As of yet it is not clear what precise biological pathways lead to generalized brain overgrowth.
 ...
PMID:Genetic disorders associated with macrocephaly. 1862 77

Sedation and analgesia performed by the pediatrician and pediatric subspecialists are becoming increasingly common for diagnostic and therapeutic purposes in children with developmental disabilities and neurologic disorders (autism, epilepsy, stroke, obstructive hydrocephalus, traumatic brain injury, intracranial hemorrhage, and hypoxic-ischemic encephalopathy). The overall objectives of this paper are (1) to provide an overview on recent studies that highlight the increased risk for respiratory complications following sedation and analgesia in children with developmental disabilities and neurologic disorders, (2) to provide a better understanding of sedatives and analgesic medications which are commonly used in children with developmental disabilities and neurologic disorders on the central nervous system.
 ...
PMID:Sedation and analgesia in children with developmental disabilities and neurologic disorders. 2070 47

The aim of this article is to describe the roles of water channel proteins (WCPs) in brain functionality. The fluid compartments of the brain, which include the brain parenchyma (with intracellular and extracellular spaces), the intravascular and the cerebrospinal fluid compartments are presented. Then the localization and functional roles of WCPs found in the brain are described: AQP1, AQP2, AQP3, AQP4, AQP5, AQP7, AQP8, AQP9 and AQP11. In subsequent chapters the involvement of brain WCPs in pathologies are discussed: brain edema, brain trauma, brain tumors, stroke, dementia (Alzheimer's disease, human immunodeficiency virus--HIV-dementia), autism, pain signal transduction and migraine, hydrocephalus and other pathologies with neurological implications: eclampsia, uremia. New WCP ligands for brain imaging are also discussed.
 ...
PMID:Brain water channel proteins in health and disease. 2250 60

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder due to mutations in either TSC1 or TSC2 that affects many organs with hamartomas and tumors. TSC-associated brain lesions include subependymal nodules, subependymal giant cell astrocytomas and tubers. Neurologic manifestations in TSC comprise a high frequency of mental retardation and developmental disorders including autism, as well as epilepsy. Here, we describe a new mouse model of TSC brain lesions in which complete loss of Tsc1 is achieved in multiple brain cell types in a stochastic pattern. Injection of an adeno-associated virus vector encoding Cre recombinase into the cerebral ventricles of mice homozygous for a Tsc1 conditional allele on the day of birth led to reduced survival, and pathologic findings of enlarged neurons, cortical heterotopias, subependymal nodules, and hydrocephalus. The severity of clinical and pathologic findings as well as survival was shown to be dependent upon the dose and serotype of Cre virus injected. Although several other models of TSC brain disease exist, this model is unique in that the pathology reflects a variety of TSC-associated lesions involving different numbers and types of cells. This model provides a valuable and unique addition for therapeutic assessment.
 ...
PMID:Stochastic model of Tsc1 lesions in mouse brain. 2369 72

Abstract Many species can respond to the behavior of their conspecifics. Human children, and perhaps some nonhuman primates, also have the capacity to respond to the mental states of their conspecifics, i.e., they have a "theory of mind." On the basis of previous research on the theory-of-mind impairment in people with autism, together with animal models of intentionality, Brothers and Ring (1992) postulated a broad cognitive module whose function is to build representations of other individuals. We evaluate the details of this hypothesis through a series of experiments on language, face processing, and theory of mind carried out with subjects with Williams syndrome, a rare genetic neurodevelopmental disorder resulting in an uneven lin-guisticocognitive profile. The results are discussed in terms of how the comparison of different phenotypes (e.g., Williams syndrome, Down syndrome, autism, and hydrocephaly with associated myelomeningocele) can contribute both to understanding the neuropsychology of social cognition and to current thinking about the purported modularity of the brain.
...
PMID:Is there a social module? Language, face processing, and theory of mind in individuals with williams syndrome. 2396 24


1 2 3 Next >>