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ABSTRACT: Angelman syndrome (AS) is a neurodevelopmental disorder usually caused by an anomaly in the maternally inherited chromosome 15. The main features are severe intellectual disability, speech impairment, ataxia, epilepsy, sleep disorder and a behavioural phenotype that reportedly includes happy disposition, attraction to/fascination with water and hypermotoric behaviour.
We studied the level of adaptive behaviour and the adaptive behavioural profile in the areas of 'motor skills', 'language and communication', 'personal life skills' and 'community life skills' in a group of 25 individuals with genetically confirmed AS, to determine whether there is a specific adaptive behaviour profile.
None of the individuals, whatever their chronological age, had reached a developmental age of 3 years. A specific adaptive behaviour profile was found, with 'personal life skills' emerging as relative strengths and 'social and communication skills' as weaknesses.
Journal of Intellectual Disability Research 11/2010; 54(11):1024-9. · 1.88 Impact Factor
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A B P van Kuilenburg,
R Meinsma,
B Assman,
G F Hoffman,
T Voit,
A Ribes, I Lorente,
R Busch,
E Mayatepek,
N G G M Abeling,
R A Wevers,
F Rutsch,
A H van Gennip
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ABSTRACT: beta-Ureidopropionase is the third enzyme of the pyrimidine degradation pathway and it catalyses the irreversible hydrolysis of N-carbamyl-ss-aminoisobutyric acid or N-carbamyl-ss-alanine to beta-aminoisobutyric acid or ss-alanine, ammonia, and CO2. Analysis of the beta-ureidopropionase gene (UPB1) of the first 4 patients presenting with a complete enzyme deficiency, revealed the presence of 2 splice-site mutations (IVS1-2A>G and IVS8-1G>A) and one missense mutation (A85E). RT-PCR analysis of the complete beta-ureidopropionase cDNA suggested that both splice-site mutations lead to a variety of alternative splice variants, with deletions of a single or several exons. The alanine at position 85 was not conserved in other eukaryotic beta-ureidopropionase protein sequences.
Nucleosides Nucleotides & Nucleic Acids 01/2006; 25(9-11):1093-8. · 0.90 Impact Factor
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G Martínez,
A Ribes,
P Briones,
M Rodés,
A Baldellou,
M Pineda,
C Rodrigo, I Lorente,
M T García-Silva,
E Riudor,
P Jaraba,
J Lopez-Casas,
A Nuñez-Roldan
Journal of Inherited Metabolic Disease 09/1998; 21(6):693-4. · 3.58 Impact Factor
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ABSTRACT: To analyse clinical and outcome features of patients with mental retardation and transient hypertonia in early life which lead to the diagnosis of hypertonic cerebral palsy.
We study six patients that presented with the above features in our neuropediatric out patients clinic. Clinical data related with the hypertonic signs and its evolution were collected. All the patients were assessed to find their present cognitive and development state.
Clinical and radiological signs of a possible prenatal neurological damage were found in all the patients. Structural anomalies were presented in neuroimaging in five cases. Agenesia or hypoplasia of corpus callosum was the most common finding. The pattern of progression of this cases were: 1. Improvement of hypertonia with almost normal tone by the age of two years. 2. Despite of the resolution of motor signs, persistence of different degrees of mental retardation.
Our reported patients presented a peculiar pattern of progression within the wide variability of the cerebral palsy group.
Revista de neurologia 08/1997; 25(143):1013-5. · 0.65 Impact Factor
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ABSTRACT: Two sisters are shown who have been diagnosed as having glutaric acidity (GA) type I, in the neuroimage of which bilateral arachnoidal cysts were shown. There is a remarkable lack of correlation between the clinical status of the patients and the arachnoidal cysts. The younger sister developed the first symptoms of her illness at around 5 years of age, whereas the cysts had already been diagnosed at the age of one. It was considered convenient to doubt the diagnosis of type I GA, given the presence of bilateral or familiar arachnoidal cysts, despite the lack of symptoms.
Revista de neurologia 23(119):153-6. · 0.65 Impact Factor
