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Query: UMLS:C0917816 (mental retardation)
 15,867 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Autism and dysphasia are behaviorally defined disorders of higher cerebral function which in preschool children share the common core symptom of impairment of language. In this study we describe the clinical characteristics of 314 autistic and 237 dysphasic nonautistic children evaluated by one child neurologist. There was no significant difference between autistic and dysphasic children in gestational age, birth weight, or prevalence of associated medical disorders, all of which were infrequent, although a positive history of resuscitation or ventilatory support was more common in dysphasic than autistic children (P = .03). As a group autistic children are more likely than dysphasic children to have language subtypes affecting central processing and formulation, a family history of psychiatric disorders and autism, and a history of regression of language and behavior. After excluding 12 girls with autistic symptoms who met the clinical criteria for Rett syndrome, we found that there was no significant difference in the number of autistic and dysphasic children with an abnormal sensorimotor examination. Girls with autism were more likely than boys to have severe mental deficiency (38% of autistic girls vs 23% of boys) (P = 0.012) and a motor deficit (27% vs 11%) (P = .0009).
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PMID:Autistic and dysphasic children. I: Clinical characteristics. 195 39

In a previously described population of 314 autistic and 237 dysphasic nonautistic children, after exclusion of 12 autistic girls with Rett syndrome, 14% (42 of 302) of autistic children and 8% (19 of 237) of dysphasic children had epilepsy (P = .03). The major risk factors for epilepsy were severe mental deficiency and the combination of severe mental deficiency with a motor deficit. In autistic children without severe mental deficiency, motor deficit, associated perinatal or medical disorder, or a positive family history of epilepsy, epilepsy occurred in 6% (10 of 160) which was analogous to the 8% (14 of 168) found in similar dysphasic nonautistic children. The language subtype of verbal auditory agnosia is associated with the highest risk of epilepsy in autistic (41%, 7 of 17) and dysphasic (58%, 7 of 12) children. The higher percentage of epilepsy in autistic girls, 24% (18 of 74) compared with boys 11% (25 of 228) (P = .003), is attributed to the increased prevalence of cognitive and motor deficit in girls. Once the risk attributable to associated cognitive and motor disabilities is taken into account, there is no difference in the risk of epilepsy between autistic and nonautistic dysphasic children.
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PMID:Autistic and dysphasic children. II: Epilepsy. 195 40

Eight patients who satisfied the following three criteria: 1) autistic behavior, 2) mental retardation and 3) stereotypic hand movements were evaluated. Four patients fulfilled the diagnostic criteria for the Rett syndrome developed by representatives of the International Rett Syndrome Association and the Center for Disease Control, Atlanta, USA. The other four Rett-like patients were atypical in the sense that the manifestations were incomplete or psychomotor development throughout the first 6 months of life was abnormal or the disease was heralded by infantile spasms with transient stereotypic hand movements or the baby was born with congenital microcephaly. All eight patients were girls. No laboratory test result specific for the Rett syndrome or Rett-like syndrome was obtained.
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PMID:The Rett and Rett-like syndromes: a broad concept. 195 70

Institutionalized adults with mental retardation (N = 297) were surveyed to determine the prevalence of symptoms of Rett syndrome. No symptom of the syndrome occurred more frequently in males than females. When symptoms were analyzed in clusters (e.g., severe mental retardation, no prenatal complications, walked before 15 months, and wide-based gait), no single cluster of symptoms appeared to differentiate males from females. However, as individuals, only females were found to meet the necessary criteria for a diagnosis of Rett syndrome. Symptoms were seen with equal frequency in this population and no one or two symptoms differentiated patients with and without Rett syndrome.
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PMID:Rett syndrome symptomatology of institutionalized adults with mental retardation: comparison of males and females. 204 52

An institution for the mentally retarded was surveyed to determine the prevalence rate of Rett syndrome (RS). Four patients with definite RS and one with probable RS were identified in a population of 350, yielding a prevalence rate of 1 in 87, about 1% of institutionalized male and female patients with mental retardation. In this population of patients with severe and profound mental retardation (N = 297), 138 females were surveyed, suggesting a prevalence rate among females of 1 in 34 in an institutional population of persons with mental retardation. Surveys of institutions for persons with mental retardation may be an effective method to identify adults with RS.
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PMID:A prevalence study of Rett syndrome in an institutionalized population. 233 4

Diagnostic criteria for Rett syndrome (RS) were developed by representatives of the International Rett Syndrome Association and the Centers for Disease Control for use in future clinical and epidemiological studies. Necessary criteria are: normal prenatal and perinatal period; normal psychomotor development through the first 6 months of life; normal head circumference at birth, with subsequent deceleration of head growth; loss of purposeful hand skills; severely impaired expressive and receptive language; apparent severe mental retardation; and gait apraxia and truncal apraxia/ataxia. Supportive criteria include breathing dysfunction, seizures, spasticity, scoliosis, and growth retardation. The diagnosis of RS is considered tentative until 2 to 5 years of age. The differential diagnosis includes other disorders associated with mental retardation, cerebral palsy, and seizure disorders. These diagnostic criteria for RS should foster reliable communication among investigators and enhance the epidemiological and clinical research of this important disorder.
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PMID:Diagnostic criteria for Rett syndrome. The Rett Syndrome Diagnostic Criteria Work Group. 245 7

We report 6 cases of Rett syndrome, a disorder that occurs only in girls and is characterized by slowly progressive deterioration of higher brain function, with dementia and autistic behavior, loss of purposeful use of the hands and deceleration of head growth. We consider interesting this report because Rett syndrome would be an important cause of mental retardation in girls, which has been overlooked until few years ago.
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PMID:[Rett syndrome. A frequent cause of progressive mental retardation in girls]. 272 88

Rett syndrome is an increasingly recognized progressive disorder in females, commencing in infancy and characterized by autistic behavior, gait ataxia, stereotyped movements, seizures and generalized growth and mental retardation, possibly associated with disorders of central biogenic amine synthesis. The gene locus and pathogenesis of Rett syndrome are unknown. Autopsy studies in nine girls dying between 4 and 17 years, and sural nerve and muscle biopsies from two girls aged 3 and 17 years showed: (1) diffuse cortical atrophy/micrencephaly, with a decrease in brain weight by 12% to 34% of age-matched controls, apparently related to the duration of the disorder; (2) mild diffuse cortical atrophy with increased amounts of neuronal lipofuscin and occasional mild gliosis, but without signs of a storage disorder; (3) underpigmentation of the zona compacta nigrae, which showed fewer well-pigmented neurons for age and fewer melanin granules per neuron, while total numbers of nigral neurons and the substructure of neuromelanin were normal for age. No pathological changes were seen in other transmitter-specific brain stem nuclei; (4) immunoreactivity for tyrosine hydroxylase was slightly reduced in nigral and hypothalamic neurons, and the pituitary gland showed decreased immunoreaction for prolactin and growth hormone; (5) ultrastructurally, in frontal cortex and caudate nucleus, isolated abnormal neurites and reactive or degenerative axonal swellings were seen; the latter are possibly related to the nigral changes, suggesting some dysfunction of the dopaminergic nigrostriatal system, which is supported by neurochemical data; (6) preliminary biochemical studies revealed increased beta-endorphines in thalamus and cerebellum; (7) peripheral nerves demonstrated increase in small fibers without demyelination and increased numbers of neurofilaments in axons, suggesting distal axonopathy, while skeletal muscle showed alterations in the sarcoplasmic reticulum with circular profiles in the Z-filaments. These nonspecific changes may be interpreted as early signs of denervation. The variety of lesions in the central, neuroendocrine and peripheral neuromuscular systems in Rett syndrome are discussed with regard to their clinical and biochemical significance.
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PMID:Neuropathology of Rett syndrome. 290 May 87

Rett syndrome is a mental retardation syndrome that occurs only in females and consists of normal pre-, peri-, and neonatal growth and development. It is followed by rapid neurobehavioral deterioration in late infancy or early childhood, a developmental arrest, plateauing, and then either a course of retarded development or continued deterioration. The period of rapid neuro-behavioral deterioration manifests as a partial autistic syndrome, with loss of production and comprehension of language, hyperactivity, hyperventilation, hand-wringing, and ataxic gait. Current diagnostic criteria are discussed and suggestions for further research are presented.
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PMID:Rett syndrome: review and discussion of current diagnostic criteria. 305 82

Current data indicate that Rett syndrome is an important contributor to the total burden of idiopathic mental retardation. Studies from Sweden suggest that among girls the prevalence of Rett syndrome may be twice the prevalence of phenylketonuria. Successful epidemiologic studies of idiopathic mental retardation syndromes will require both large sample sizes and homogeneous populations. Because Rett syndrome is a relatively homogeneous and common syndrome of idiopathic mental retardation, epidemiologic methods may be more productive in the study of Rett syndrome than in other syndromes of mental retardation that are less clinically homogeneous. The approaches used in studying Rett syndrome epidemiologically may later be useful in the study of other syndromes of idiopathic mental retardation.
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PMID:The epidemiology and public health significance of Rett syndrome. 305 84


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