Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 12 de 12
Filter
Add more filters










Publication year range
10.
Clin Genet ; 52(3): 135-41, 1997 Sep.
Article in English | MEDLINE | ID: mdl-9377801

ABSTRACT

We report data on intelligence and on possibly associated psychopathology in 16 children and adolescents, between 7 and 18 years of age, with congenital or juvenile myotonic dystrophy. We found that all the subjects have an intelligence level below the population mean, four of them in the mentally retarded range. An unexpected number of subjects are in the clinical range on the Child Behavior Checklist. In nine of the 16 subjects, a child psychiatric diagnosis was found using a standardized psychiatric interview. The most frequent child psychiatric diagnosis was Attention Deficit Hyperactivity Disorder.


Subject(s)
Cognition/physiology , Myotonic Dystrophy/congenital , Myotonic Dystrophy/psychology , Adolescent , Anxiety Disorders/diagnosis , Anxiety Disorders/psychology , Attention Deficit Disorder with Hyperactivity/diagnosis , Attention Deficit Disorder with Hyperactivity/physiopathology , Behavior/physiology , Child , Child Behavior/physiology , Child Behavior/psychology , Child Development , Child, Preschool , Cloning, Molecular , Emotions/physiology , Female , Humans , Intellectual Disability/diagnosis , Intellectual Disability/physiopathology , Intelligence/physiology , Male , Myotonic Dystrophy/pathology , Repetitive Sequences, Nucleic Acid/genetics
11.
Am J Med Genet ; 64(2): 346-9, 1996 Aug 09.
Article in English | MEDLINE | ID: mdl-8844078

ABSTRACT

Nine girls, with a 50% risk to be carrier of the FMR-1 gene and who attended normal school and did not have a mentally retarded fraX relative, were selected to exclude influences of external factors. These subjects were submitted to an extensive neurocognitive and psychiatric evaluation before molecular analysis of their FMR-1 status was done to obtain completely unbiased results. The findings of this study suggest that differentiation according to the FMR-1 status may be more significant at the neurocognitive level than at the behavioral level and support the hypothesis that behavioral problems are more influenced by external factors than by the FMR-1 carrier state.


Subject(s)
Fragile X Syndrome/genetics , Fragile X Syndrome/psychology , Heterozygote , Intelligence , Nerve Tissue Proteins/genetics , RNA-Binding Proteins , Trinucleotide Repeats , Adolescent , Adult , Child , DNA Methylation , Female , Fragile X Mental Retardation Protein , Humans , Memory , Mosaicism , Mutation , Parents , Psychological Tests , Risk Assessment , Surveys and Questionnaires
12.
Genet Couns ; 6(2): 121-5, 1995.
Article in English | MEDLINE | ID: mdl-7546454

ABSTRACT

We present the natural history of a female child with Costello syndrome from birth to the present age of 12 years. The diagnostic clinical signs combined with a true postnatal growth retardation are illustrated.


Subject(s)
Dwarfism/genetics , Intellectual Disability/genetics , Abnormalities, Multiple/genetics , Child , Child, Preschool , Facial Bones/abnormalities , Facies , Female , Follow-Up Studies , Humans , Infant , Infant, Newborn , Muscle Hypotonia/genetics , Skull/abnormalities , Syndrome
SELECTION OF CITATIONS
SEARCH DETAIL
...