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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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

Rett Syndrome (RS) is a mental retardation syndrome occurring in females consisting of normal pre-, peri-, and neonatal growth and development, followed by rapid regression after 3 but before 30 months, an arrest of the regression and a developmental plateau. The regression results in autistic behavior, with loss of production and comprehension of language, seizures, hyperventilation, characteristic hand-wringing, and ataxic gait. Four case histories of RS from the authors' practice are presented. Management strategies are presented and needed research is suggested.
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PMID:Rett syndrome: case reports and management strategies. 322 56

A Case of Rett syndrome in a 20-year old female patient in a mental retardation institution is described. Clinically and according to the case history she is very typical for the syndrome, and the different stages, the etiological theories and some efforts in order to find etiological factors are surveyed.
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PMID:Rett syndrome. 343 61

Two sporadic cases of tuberous sclerosis presented with flexion spasms in a male and early intractable seizures evolving into a Lennox-Gastaut syndrome in a female. Early hypotonia and lack of substantial motor development are key features of the Rett syndrome, more easily overlooked than hand-wringing. Clumsy self-feeding and immature ambulation were the highest achievements in the second case now aged 36 years. Immaturity rather than degeneration, dementia, or assumed tissue destruction, is the capital feature of many disorders of early brain development leading to profound motor as well as mental retardation. Studying unusual clinical combinations is more likely to shed light on the underlying etiology than focusing on procrustean syndrome definitions.
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PMID:Rett syndrome associated with tuberous sclerosis in a male and in a female: evidence for arrested motor and mental development. 751 Sep 33

A high prevalence of psychiatric illness exists in persons with mental retardation. Among children with mild to moderate retardation, psychiatric illnesses resemble those seen in the general population. Major affective disorders, ADHD, and conduct disorder are common and respond to the same interventions used in children without mental retardation. Persons with severe to profound retardation are more likely to engage in stereotypies and self-injurious behaviors. In addition, certain specific syndromes associated with mental retardation present with particular neurocognitive, behavioral, and psychiatric profiles. Common examples are fetal alcohol syndrome, Down syndrome, fragile X syndrome, and Rett syndrome. Specific challenges exist for pediatricians who diagnose and treat patients with mental retardation and psychiatric illness. The child's impaired ability to communicate his or her thoughts and feelings with words makes clinical history taking difficult. The clinician must frequently rely on the observation of family members and teachers. An understanding of developmental profiles and interpersonal, peer, and family dynamics is important. Specific behaviors must be targeted and realistic objectives set in treatment planning, which may include psychotherapy, medication, behavior management techniques, and rehabilitation therapy.
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PMID:Dual diagnoses. Psychiatric disorders in developmental disabilities. 768 22

Rett's syndrome is a disorder of neuropsychological development of unknown aetiology. All those described as having all the classical traits of the syndrome are girls. Typically apparently normal development in the first year of life is followed by loss of acquired hand skills and speech, together with deceleration in the growth of the head and development of characteristic hand washing movements, hyperventilation and mental retardation. The disorder is the most common cause of progressive mental retardation in girls. Parents experience health workers who have not heard about this disorder. The article describes a four year-old girl with some preserved speech and an ability to sing. This is an atypical trait in a variant of Rett's syndrome. The importance of cooperation between different professions and medical specialties is underlined. Early diagnosis and start of intervention may delay loss of function. Controlled clinical trials, both medical and psychological, are needed.
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PMID:[Rett syndrome a developmental disorder. Presentation of a variant with preserved speech]. 790 Jan 10

A 29 year-old woman was diagnosed as suffering from Rett's syndrome on the bases of clinical examination and a good description of the patient's early development in childhood and adolescence. The woman showed all the typical clinical symptoms and signs of Rett's syndrome. In particular, she had an aggressive and difficult epilepsy. Some of the typical symptoms and signs in childhood Rett's syndrome are less prominent when the patients become adults. It is important that doctors consider Rett's syndrome as a possible cause of mental retardation and multifunctional disability in women.
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PMID:[Rett syndrome and the adult patient]. 790 Jan 35

Ritanserine had a positive effect on children with Rett's syndrome and children with autistic syndrome and mental retardation. The most marked effect was observed in reduction of psychomotor instability, impaired concentration of attention and partly also in autism.
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PMID:[Ritanserin in autistic children]. 840 27

The presence of metatarsal and metacarpal abnormalities in some individuals has raised the possibility that Rett syndrome is, in fact, a multiple congenital abnormalities/mental retardation (MCA/MR) syndrome. We have conducted radiological examination of 17 cases of Rett syndrome in Western Australia. Short fourth and/or fifth metatarsals were identified in 65% of cases and short fourth and/or fifth metacarpals in 57%. Metatarsal (P = 0.045) and metacarpal (P = 0.006) shortness were significantly more common in girls 14 years or older. Negative ulnar variance (found in 79% of cases) appeared to be independent of age. Reduced bone density in the hands was found in 86% of cases. A nationwide study using the Australian Rett Syndrome Database is planned to follow up these findings and compare them with findings from a control group. The confirmation of these abnormalities in a high proportion of cases may provide morphologic markers to assist in the diagnosis of Rett syndrome and perhaps provide a further avenue of research into the pathogenesis of this disorder.
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PMID:Skeletal abnormalities in Rett syndrome: increasing evidence for dysmorphogenetic defects. 853 32

A 23-year-old pregnant woman was referred to the Genetics Department for genetic counselling and possible prenatal diagnosis because of unexplained mental retardation in a paternal uncle. Family history revealed that her father had two mentally retarded sisters well as a brother with mental retardation and a normal sister. This normal sister had two normal sons, on normal daughter and one mentally retarded daughter. The normal daughter had one daughter, who has been referred to the pediatric department because of mental retardation two months earlier; Rett syndrome was diagnosed as this girl had the classical symptoms of this syndrome. The paternal uncle of the consultant was examined. H head typical features of fragile X syndrome. Therefore cytogenetic and molecular studies were undertaken in this family. Fragile X syndrome was diagnosed in the girl with Rett syndrome by the presence of the classical FMR-1 mutation and confirmed by cytogenetic studies, which revealed 12% fragile X positive cells.
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PMID:Rett-like syndrome in fragile X syndrome. 858 47


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