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

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

In this paper, a rare neurological disorder seen exclusively in girls is described. According to its progress and clinical behaviour, a syndrome resembles autism. The disease was reported in 1966 by A. Rett from Vienna. The syndrome often remains unrecognized because of its low incidence or is mistaken for autism, mental retardation and cerebral paralysis. The table of differential diagnosis of this disease in relation to autism is given. We report on a 5-year-old girl from Zrenjanin who was admitted to the Division for Autism, Psychiatric Hospital Jankomir, Zagreb. The diagnosis of Rett's syndrome was established in this patient whose initial description documented autism. The medications have shown to be without effect, except anticonvulsive drugs and ketogenic diet. Physical, occupational and musical therapy as well as hydrotherapy were applied.
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PMID:[Rett's syndrome--differential diagnosis of autism in a case report]. 263 9

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

Children with developmental regression and emerging symptoms of autism have been given a variety of classifications. The authors compare two boys with Heller dementia with six girls with Rett syndrome. They all differed from children with classic autism in that they had normal prenatal and perinatal periods, followed by marked developmental regression, after which they acquired few or no skills. The boys differed from the girls in terms of estimated prevalence, age at onset, stereotypic breathing patterns, midline hand stereotypies, hand and gait apraxia and speech development. It is suggested that these children should be distinguished from those with classic autism, and should be classified as 'pervasive disintegrative disorder, Heller type' and 'pervasive disintegrative disorder, Rett type'.
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PMID:Pervasive disintegrative disorder: are Rett syndrome and Heller dementia infantilis subtypes? 280 42

Guidelines for providing therapy intervention for persons with Rett syndrome are presented according to the four stages of the disease. In describing various aspects of Rett syndrome the differences between Rett syndrome, cerebral palsy, and autism are discussed. The role of the therapist in maintaining functional skills is emphasized. The changing nature of the therapist's involvement in relation to the progression of the disease is briefly addressed.
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PMID:The therapist's role in the management of girls with Rett syndrome. 305 86

Rett syndrome (RS) is characterized by progressive loss of intellectual functioning and fine and gross motor skills as well as development of stereotypic hand movement abnormalities, occurring after 6 to 18 months of normal development. Rett syndrome has been previously reported only in girls, but the possibility of the syndrome existing in male children cannot be currently excluded. Although the syndrome is thought to be relatively common, it was only described in the English literature 5 years ago. There is currently no marker for the syndrome; diagnosis is based on clinical criteria. The newly developed diagnostic criteria for RS are reviewed, with special attention given to the historical aspects of the diagnosis in the prenatal, perinatal, neonatal, and early childhood periods. Rett syndrome is characterized by a predictable, orderly progression of signs and symptoms. Four stages of RS have been described; each stage has special characteristics and offers different diagnostic challenges for the neurologist. Infantile autism is the most common incorrect diagnosis made for children with RS. The simultaneous regression of both motor and language skills, as well as the stereotypic hand movements, hyperventilation, bruxism, and seizures in early childhood are all typical in RS and help distinguish RS from infantile autism.
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PMID:The clinical recognition and differential diagnosis of Rett syndrome. 305 88

A survey of approximately 4,000 questionnaires completed by parents of autistic children provided ratings on a variety of treatments and interventions. Among the biomedical treatments, the use of high-dosage vitamin B6 and magnesium (n = 318) received the highest ratings, with 8.5 parents reporting behavioral improvement to every one reporting behavioral worsening. Deanol (n = 121) was next most highly rated, with 1.8 parents reporting improvement to each one reporting worsening. Fenfluramine (n = 104) was third, with a ratio of 1.5:1. Thioridazine hydrochloride (Mellaril), by far the most often used drug on the list (n = 724), was fourth with a helped-worsened ratio of 1.4:1. The research literature on the use of vitamin B6-magnesium is briefly reviewed, and mention is made of recent findings regarding high-dosage folic acid in autism and biotin in Rett syndrome.
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PMID:Controversies in the treatment of autistic children: vitamin and drug therapy. 305 89

Rett syndrome and infantile autism share the common symptom of autism, especially in the early stages of the disorders. In the later development of Rett syndrome autism sometimes becomes less prominent and there may also be clear differences as regards the quality of autistic behaviour in Rett syndrome and infantile autism. However, in infancy, the syndromes may be indistinguishable. The present paper deals briefly with this issue and suggests that in many girls referred in infancy for autistic symptoms Rett syndrome should be considered seriously as a primary diagnostic alternative.
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PMID:Autism and Rett syndrome: some notes on differential diagnosis. 308 73

This is a presentation and discussion of clinical and laboratory data obtained on 13 girls with Rett syndrome, a progressive neurological disorder. The condition is thought to be far more prevalent than earlier reported. Family history in one patient showed presence of abnormal hand movements, increasing spasticity and psychomotor retardation in a paternal great grandaunt who died at 7 years. In the absence of chromosomal or biochemical markers, the characteristic disorder of hand movements can be used to distinguish this entity from other mental retardation, cerebral palsy and autism conditions. This report addresses the uniformity of clinical expression and highlights the differences between autism and Rett syndrome. Precocious puberty and respiratory alkalosis were not found in our patients. Feeding disorders were commonly present, and are often difficult to manage. The importance of diagnosis is emphasized as it influences long term management.
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PMID:Rett syndrome: studies of 13 affected girls. 308 8

Patients with Rett syndrome appear to fulfill the Rendle-Short criteria for the diagnosis of autism, but the pattern of their behavior is qualitatively different from children with autism. Until a biologic marker is identified, diagnosis is based on clinical assessment. In order to standardize this clinical assessment and to provide objective criteria for the evaluation of potential therapeutic modalities, motor and behavioral characteristics of 15 Rett patients were analyzed. The patients with Rett syndrome differed from autistic children in having ataxia, breath-holding, hyperventilation, bruxism, simplicity of stereotypies, and hand apposition. The children with autism demonstrated complex stereotypies and verbal but not motor regression. The more typical features of autism, namely, poor eye contact, lack of sustained interest, speech disturbance, and repetitive truncal rocking motions were poor discriminators between the two groups.
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PMID:Rett syndrome: qualitative and quantitative differentiation from autism. 319 4


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