%0 Journal Article %1 Echenne2008 %A Echenne, Bernard %A Rideau, Aline %A Roubertie, Agathe %A Sebire, Guillaume %A Rivier, François %A Lemieux, Bernard %D 2008 %J Eur J Paediatr Neurol %K Preschool;CognitionDisorders epidemiology/etiology;DiseaseProgression;Genotype;Humans;Male;MyotonicDystrophy Adolescent;Adult;Child;Child complications/genetics/physiopathology;NeuropsychologicalTests;Phenotype;RetrospectiveStudies;Time;WechslerScales %N 3 %P 210--223 %R 10.1016/j.ejpn.2007.07.014 %T Myotonic dystrophy type I in childhood Long-term evolution in patients surviving the neonatal period. %U http://dx.doi.org/10.1016/j.ejpn.2007.07.014 %V 12 %X In a retrospective study, 32 patients with myotonic dystrophy, including congenital (n=17) and infantile/juvenile forms (n=15) were studied during a long follow-up lasting 7-28 years (median: 17 years). The clinical presentation was extremely variable; however, a continuum did exist between severe and less severe congenital forms, and later-onset forms, without genotype-phenotype correlation. We observed some unusual presentations, such as 3 cases of isolated club-feet during the neonatal period, and 7 patients (23\%) with a completely isolated mental deficiency, language delay and school failure, who only completed the clinical picture several years later. Wechsler scale testing was performed in all cases, and repeated with 8 patients. It demonstrated a decrease in intellectual abilities in 5 patients, suggesting the possibility of a degenerative cerebral process occurring in these children. This decrease has also been reported in some adult cases. This study illustrates the extremely heterogeneous clinical presentation of myotonic dystrophy in childhood.

@article{Echenne2008, abstract = {In a retrospective study, 32 patients with myotonic dystrophy, including congenital (n=17) and infantile/juvenile forms (n=15) were studied during a long follow-up lasting 7-28 years (median: 17 years). The clinical presentation was extremely variable; however, a continuum did exist between severe and less severe congenital forms, and later-onset forms, without genotype-phenotype correlation. We observed some unusual presentations, such as 3 cases of isolated club-feet during the neonatal period, and 7 patients (23\%) with a completely isolated mental deficiency, language delay and school failure, who only completed the clinical picture several years later. Wechsler scale testing was performed in all cases, and repeated with 8 patients. It demonstrated a decrease in intellectual abilities in 5 patients, suggesting the possibility of a degenerative cerebral process occurring in these children. This decrease has also been reported in some adult cases. This study illustrates the extremely heterogeneous clinical presentation of myotonic dystrophy in childhood.}, added-at = {2011-05-27T21:22:52.000+0200}, author = {Echenne, Bernard and Rideau, Aline and Roubertie, Agathe and Sebire, Guillaume and Rivier, François and Lemieux, Bernard}, biburl = {https://www.bibsonomy.org/bibtex/24f8e71b77184ac970c3919481f20cada/crc_chus}, doi = {10.1016/j.ejpn.2007.07.014}, institution = {Service de Neuropédiatrie, Centre hospitalier universitaire de Montpellier, France. Bernard.Echenne@USherbrooke.ca}, interhash = {null}, intrahash = {4f8e71b77184ac970c3919481f20cada}, journal = {Eur J Paediatr Neurol}, keywords = {Preschool;CognitionDisorders epidemiology/etiology;DiseaseProgression;Genotype;Humans;Male;MyotonicDystrophy Adolescent;Adult;Child;Child complications/genetics/physiopathology;NeuropsychologicalTests;Phenotype;RetrospectiveStudies;Time;WechslerScales}, language = {eng}, month = May, number = 3, pages = {210--223}, pii = {S1090-3798(07)00147-X}, pmid = {17892958}, pst = {ppublish}, timestamp = {2011-05-27T21:22:52.000+0200}, title = {Myotonic dystrophy type I in childhood Long-term evolution in patients surviving the neonatal period.}, url = {http://dx.doi.org/10.1016/j.ejpn.2007.07.014}, volume = 12, year = 2008 }