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15 results

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Quoted phrase not found in phrase index: "Neurodevelopmental disorder with visual defects and brain anomalies"
Page 1
The Neurological Manifestations of Phelan-McDermid Syndrome.
Frank Y. Frank Y. Pediatr Neurol. 2021 Sep;122:59-64. doi: 10.1016/j.pediatrneurol.2021.06.002. Epub 2021 Jun 16. Pediatr Neurol. 2021. PMID: 34325981 Review.
PMS is characterized by neurobehavioral symptoms and signs including intellectual disability, speech and language impairment, autism spectrum disorder (ASD), hypotonia, and other motor abnormalities. In the brain, SHANK3 is expressed in neurons, especially in …
PMS is characterized by neurobehavioral symptoms and signs including intellectual disability, speech and language impairment, autism spectru …
Thalidomide and misoprostol: Ophthalmologic manifestations and associations both expected and unexpected.
Miller MT, Ventura L, Strömland K. Miller MT, et al. Birth Defects Res A Clin Mol Teratol. 2009 Aug;85(8):667-76. doi: 10.1002/bdra.20609. Birth Defects Res A Clin Mol Teratol. 2009. PMID: 19639653 Review.
Thalidomide is a very potent teratogen capable of causing severe systemic malformations if the fetus is exposed during the sensitive period. Although structural anomalies of the eye can occur from thalidomide exposure, the most frequent eye complication is secondary to dam …
Thalidomide is a very potent teratogen capable of causing severe systemic malformations if the fetus is exposed during the sensitive period. …
Long-term outcome in aqueductal stenosis.
Villani R, Tomei G, Gaini SM, Grimoldi N, Spagnoli D, Bello L. Villani R, et al. Childs Nerv Syst. 1995 Mar;11(3):180-5. doi: 10.1007/BF00570262. Childs Nerv Syst. 1995. PMID: 7773981
Among these, 34% had some motor abnormalities (ataxia, mild hemiparesis, visual disturbances). Twenty-four percent (19 cases) were moderately disabled (trainable retardation) and 8% (6 cases) were severely handicapped. ...Large ventricles were compatible with normal …
Among these, 34% had some motor abnormalities (ataxia, mild hemiparesis, visual disturbances). Twenty-four percent (19 cases) …
Molecularly confirmed Kabuki (Niikawa-Kuroki) syndrome patients demonstrate a specific cognitive profile with extensive visuospatial abnormalities.
Harris J, Mahone EM, Bjornsson HT. Harris J, et al. J Intellect Disabil Res. 2019 Jun;63(6):489-497. doi: 10.1111/jir.12596. Epub 2019 Feb 14. J Intellect Disabil Res. 2019. PMID: 30767315 Free PMC article.
We prospectively recruited 22 patients with molecularly confirmed KS and 22 IQ-matched patients with intellectual disability. RESULTS: We observed significant deficiencies in visual motor, visual perception and visual motor memory in the KS group compared wit …
We prospectively recruited 22 patients with molecularly confirmed KS and 22 IQ-matched patients with intellectual disability. RESULTS: We ob …
Visual and fine-motor outcomes in adolescent survivors of high-risk congenital diaphragmatic hernia who did not receive extracorporeal membrane oxygenation.
Jakobson LS, Frisk V, Trachsel D, O'Brien K. Jakobson LS, et al. J Perinatol. 2009 Sep;29(9):630-6. doi: 10.1038/jp.2009.61. Epub 2009 May 21. J Perinatol. 2009. PMID: 19461591
OBJECTIVE: Although survivors of congenital diaphragmatic hernia (CDH) are at high risk for brain injury, little is known about their neurodevelopment. Studies exploring short-term outcomes in children who received extracorporeal membrane oxygenation (ECMO) therapy suggest …
OBJECTIVE: Although survivors of congenital diaphragmatic hernia (CDH) are at high risk for brain injury, little is known about their …
Prediction of Late Death or Disability at Age 5 Years Using a Count of 3 Neonatal Morbidities in Very Low Birth Weight Infants.
Schmidt B, Roberts RS, Davis PG, Doyle LW, Asztalos EV, Opie G, Bairam A, Solimano A, Arnon S, Sauve RS; Caffeine for Apnea of Prematurity (CAP) Trial Investigators; Caffeine for Apnea of Prematurity CAP Trial Investigators. Schmidt B, et al. J Pediatr. 2015 Nov;167(5):982-6.e2. doi: 10.1016/j.jpeds.2015.07.067. Epub 2015 Aug 28. J Pediatr. 2015. PMID: 26318030
OBJECTIVE: To evaluate bronchopulmonary dysplasia (BPD), serious brain injury, and severe retinopathy of prematurity (ROP) as predictors of poor long-term outcome in very low birth weight infants. ...CONCLUSIONS: In very low birth weight infants who survive to 36 weeks PMA …
OBJECTIVE: To evaluate bronchopulmonary dysplasia (BPD), serious brain injury, and severe retinopathy of prematurity (ROP) as predict …
CHARGE association in Sweden: malformations and functional deficits.
Strömland K, Sjögreen L, Johansson M, Ekman Joelsson BM, Miller M, Danielsson S, Billstedt E, Gillberg C, Jacobsson C, Norinder JA, Granström G. Strömland K, et al. Am J Med Genet A. 2005 Mar 15;133A(3):331-9. doi: 10.1002/ajmg.a.30563. Am J Med Genet A. 2005. PMID: 15633180
CHARGE association (CA) consists of a non-random association of ocular coloboma (C), heart anomaly (H), atresia of choanae (A), retarded growth and/or development (R), genital hypoplasia (G), and ear anomalies and/or hearing impairment (E). ...The most freque …
CHARGE association (CA) consists of a non-random association of ocular coloboma (C), heart anomaly (H), atresia of choanae (A) …
Face composite effects reveal abnormal face processing in Autism spectrum disorders.
Gauthier I, Klaiman C, Schultz RT. Gauthier I, et al. Vision Res. 2009 Feb;49(4):470-8. doi: 10.1016/j.visres.2008.12.007. Epub 2009 Jan 22. Vision Res. 2009. PMID: 19135077 Free PMC article. Clinical Trial.
P., & de Gelder, B. (2003). Face processing in adolescents with autistic disorder: The inversion and composite effects. Brain Cognition, 52(3), 285-294.). ...Two different interpretations are discussed, both compatible with the idea that perceptual and or attent …
P., & de Gelder, B. (2003). Face processing in adolescents with autistic disorder: The inversion and composite effects. Brain …
Clinical and electroretinographic findings in fetal alcohol syndrome.
Hug TE, Fitzgerald KM, Cibis GW. Hug TE, et al. J AAPOS. 2000 Aug;4(4):200-4. doi: 10.1067/mpa.2000.105278. J AAPOS. 2000. PMID: 10951294
PURPOSE: Fetal exposure to alcohol is a serious public health problem and is associated with anomalies of the eye ground, as well as neurodevelopmental delay, growth delay, and characteristic facial features. ...The results of the ophthalmologic examination, magneti …
PURPOSE: Fetal exposure to alcohol is a serious public health problem and is associated with anomalies of the eye ground, as well as …
Do 'clumsy' children have visual deficits.
Sigmundsson H, Hansen PC, Talcott JB. Sigmundsson H, et al. Behav Brain Res. 2003 Feb 17;139(1-2):123-9. doi: 10.1016/s0166-4328(02)00110-9. Behav Brain Res. 2003. PMID: 12642183 Clinical Trial.
The tasks comprised a measure of global motion processing using a dynamic random dot kinematogram, a measure of static global pattern processing where the position of the target was randomised, and a measure of static global pattern processing in which the target po …
The tasks comprised a measure of global motion processing using a dynamic random dot kinematogram, a measure of static global pattern …
15 results