scholarly journals MMR-Rare Can Be There

2022 ◽  
Vol 1 (1) ◽  
pp. 1-2
Author(s):  
Anubhav Chauhan ◽  
◽  
Deepak Kumar Sharma ◽  
Pankaj Kumar Thakur ◽  
◽  
...  
Keyword(s):  
Mental Retardation ◽  
Rare Syndrome ◽  
Systemic Examination

We report a case of a 10-year-old male who had megalocornea with mental retardation(Neuhauser syndrome). It is a rare syndrome with a few cases reported in literature. These patients also require a thorough systemic examination as many diseases are often associated with megalocornea.

Jansky-Bielschowsky syndrome, a lysosomal disease: First diagnosed cash in Oman

1992 ◽  
Vol 50 (1) ◽  
pp. 632-633
Author(s):  
Line Buhl ◽  
David Muirhead
Keyword(s):  
Mental Retardation ◽  
Clinical Picture ◽  
Neurological Disorder ◽  
Clinical Presentation ◽  
Neuronal Ceroid Lipofuscinosis ◽  
Infantile Form ◽  
Lysosomal Disease ◽  
Juvenile Form ◽  
Progressive Encephalopathy ◽  
Lysosomal Diseases

There are four lysosomal diseases of which the neuronal ceroid lipofuscinosis is the rarest. The clinical presentation and their characteric abnormal ultrastructure subdivide them into four types. These are known as the Infantile form (Santavuori-Haltia), Late infantile form (Jansky-Bielschowsky), Juvenile form (Batten-Spielmeyer-Voght) and the Adult form (Kuph's).An 8 year old Omani girl presented wth myclonic jerks since the age of 4 years, with progressive encephalopathy, mental retardation, ataxia and loss of vision. An ophthalmoscopy was performed followed by rectal suction biopsies (fig. 1). A previous sibling had died of an undiagnosed neurological disorder with a similar clinical picture.

Video-EEG in the diagnosis of paroxysmal events in children with mental retardation and in children with normal intelligence

2001 ◽  
Vol 43 (11) ◽  
pp. 731 ◽  
Author(s):  
Shanti Thirumalai ◽  
Bassel Abou-Khalil ◽  
Toufic Fakhoury ◽  
Gautham Suresh
Keyword(s):  
Mental Retardation ◽  
Normal Intelligence ◽  
Video Eeg

Language in mental retardation: Individual and syndromic differences, and neurogenetic variation 1Based on a keynote presentation at the Third European Conference on Psychological Theory and Research in Mental Retardation, Geneva, September 1st, 2000.

2001 ◽  
Vol 60 (3) ◽  
pp. 161-178 ◽  
Author(s):  
Jean A. Rondal
Keyword(s):  
Mental Retardation ◽  
Language Development ◽  
Oral Language ◽  
Psychological Theory ◽  
Genetic Syndromes ◽  
Explanatory Variables ◽  
Keynote Presentation ◽  
Genetic Origins ◽  
The Sixties ◽  
The Individual

Predominantly non-etiological conceptions have dominated the field of mental retardation (MR) since the discovery of the genetic etiology of Down syndrome (DS) in the sixties. However, contemporary approaches are becoming more etiologically oriented. Important differences across MR syndromes of genetic origin are being documented, particularly in the cognition and language domains, differences not explicable in terms of psychometric level, motivation, or other dimensions. This paper highlights the major difficulties observed in the oral language development of individuals with genetic syndromes of mental retardation. The extent of inter- and within-syndrome variability are evaluated. Possible brain underpinnings of the behavioural differences are envisaged. Cases of atypically favourable language development in MR individuals are also summarized and explanatory variables discussed. It is suggested that differences in brain architectures, originating in neurological development and having genetic origins, may largely explain the syndromic as well as the individual within-syndrome variability documented. Lastly, the major implications of the above points for current debates about modularity and developmental connectionism are spelt out.

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