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Query: UMLS:C0004352 (autism)
 32,579 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Rett syndrome was first described in 1966 by Andreas Rett. To date, this syndrome has been reported only to afflict females. The disorder is characterized by a progressive loss of cognitive and motor skills as well as the development of stereotypic hand movements, occurring after an apparently normal 6 to 18 months of development. Although Rett syndrome is thought to afflict as many as 10,000 girls in the United States, fewer than 1,200 have been identified thus far. A lack of awareness of this disorder is thought to play a critical role in the failure to differentially diagnose this syndrome. The present article presents a review of our current knowledge concerning this disorder. Information is provided related to the clinical manifestations, etiology, prevalence, pathogenesis, and treatment of the Rett syndrome.
J Autism Dev Disord 1991 Dec
PMID:Rett syndrome: a review of current knowledge. 177 56

The Rett syndrome is characterized by a progressive development of loss of intellectual functions and of motricity, including abnormal stereotypic hand movements and reduction of the motor skill. This syndrome is exclusively observed in girls. Its typical evolution is characterized by a normal initial development (until 6 to 18 months after birth) followed by a progressive installation of the clinical signs in 4 steps. There is currently no biological marker for the Rett syndrome and therefore the diagnosis is only based on clinical criteria. The most common erroneous diagnosis is infantile autism. In this review, the current status of clinical, genetic and pathogenetic knowledge of the Rett syndrome is presented.
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PMID:[Rett syndrome. A well defined but mysterious encephalopathy]. 192 80

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 Danish county (the island of Funen) cytogenetic screening for fragile X [fra(X)] of 32 autistic individuals aged 0-23 years showed a prevalence of 2/20 among boys and 0/12 among girls. In both cases additional fra(X) positive relatives were found. In 3 patients other chromosome aberrations were demonstrated and in one female Rett syndrome was diagnosed, initially suspected from observations of her behavior on videotapes. The presence of an underlying cause of autism in 6/32, of the patient group encourages an active search for a specific diagnosis among autistic males and females. Future screening of autistic individuals should include 1) fra(X) search also in females, 2) search for other chromosomal disorders, and 3) observation of behavior, in order to diagnose, i.e., Rett syndrome.
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PMID:Prevalence of fra(X) and other specific diagnoses in autistic individuals in a Danish county. 201 60

We present the clinical histories and physical findings of two sisters with Rett syndrome. The physical examination, combined with a review of their medical charts, revealed that both patients met the necessary criteria for the diagnosis of Rett syndrome as defined by the Rett syndrome diagnostic criteria work group. The older sister, currently 25 years of age, is typically affected, whereas the younger sister, currently 22 years of age, is affected with a seizure disorder showing an unusually early onset.
J Autism Dev Disord 1990 Mar
PMID:Two sisters with Rett syndrome. 210 56

Rett syndrome consists of a progressive encephalopathy and psychomotor deterioration in young females who have appeared clinically normal until between six and eighteen months of age. The syndrome has incidence similar to that of phenylketonuria and autism in females. It has been widely recognised only since 1983. After six months of age head growth decelerates associated eventually with severe dementia, and autism, apraxia, stereotypic "hand washing" movements and loss of previously acquired skills occurs. Supportive symptoms may include breathing dysfunction, seizures, EEG abnormalities, and growth retardation. Occurrence indicates sporadic new mutations as a cause. The case histories of two patients diagnosed in New Zealand are described.
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PMID:Rett syndrome: case reports and review. 218 54

Rett syndrome is a disorder noted to date only in females and characterized by a pervasive developmental disability following apparently normal early infancy. In addition to gait difficulties, stereotypic hand movements, and loss of communication and purposeful hand skills, autistic-like behavior is an early sign that often results in misdiagnosis. Despite these significant clinical abnormalities, neuropathologic features are modest, and no consistent laboratory abnormality or diagnostic marker has been identified. The current status of research in RS is considered within the context of autism and other disorders in which autistic features may occur, such as the fragile X syndrome. The concept of autism as neurobiologically based behavior is developed. As such, autism is regarded as an umbrella category containing an ever-expanding list of specific disorders.
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PMID:Rett syndrome and the autistic disorders. 221 62

In a review of results of clinical observations, girls from 2:03 (yrs:mos) at stages III and IV of the Rett syndrome (RS) and autistic children from 4:01 with or without severe mental retardation were compared as to their behavioral traits. Signs of concordance between the extremely low mental, affective and motor developmental levels, such as in the expression of the eyes, are a prominent feature of RS, whereas signs of higher cortical functions that are in contrast with insufficient relations to objects, people and space are a prominent characteristic in autism. It is argued that insistence on sameness, avoidance of social stimuli and self-injurious stereotypies of autistic children are neurotic reactions based on their insufficient object relations. On the basis of the clinical findings a theory is proposed, according to which there exists a system for involuntary contributions to the affective engagement in perception, which is insufficiently developed in autism and in earlier stages of RS. Regarding its structure and function, it is analogous to the phylogenetically old extrapyramidal system and its necessary involuntary emotional contributions to all voluntary movements and postures.
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PMID:A review of the Rett syndrome with a theory of autism. 234 5

Four girls and one boy with pervasive developmental disorders are described. They all met DSM-III-R criteria for autistic disorder and all also showed many if not all the symptoms currently considered essential for a diagnosis of Rett syndrome. It is concluded that there is considerable overlap between the two disorders and that the symptomatic similarities might mirror common pathophysiological abnormalities at the brainstem level.
J Autism Dev Disord 1989 Dec
PMID:The borderland of autism and Rett syndrome: five case histories to highlight diagnostic difficulties. 260 84

Rett syndrome is a neurological disorder of females characterized by dementia, autism, movement disorders and an abnormality of respiratory control. A 14-year-old girl with Rett Syndrome underwent spinal fusion surgery under general anaesthesia. No exacerbation of the respiratory control defect with surgery and anaesthesia was observed. Hypothermia, ongoing blood loss and a normal anion gap acidosis were encountered, but were not attributable to features of this disorder.
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PMID:Anaesthesia and Rett syndrome: a case report. 275 49


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