2001
Taking advantage of early diagnosis: Preschool children with the 22q11.2 deletion
Gerdes M, Solot C, Wang P, McDonald-McGinn D, Zackai E. Taking advantage of early diagnosis: Preschool children with the 22q11.2 deletion. Genetics In Medicine 2001, 3: 40-44. PMID: 11339376, DOI: 10.1097/00125817-200101000-00009.Peer-Reviewed Original ResearchConceptsNeurodevelopmental outcomes of infantsEarly intervention servicesOutcomes of infantsLanguage developmentCognitive developmentIntervention servicesFeeding disordersCardiac defectsNeurodevelopmental outcomesSpeech delayMild hypotoniaPalatal defectsPreschool childrenClinical implicationsMild delayEarly diagnosisDevelopmental delayStandardized testsClinical observationsTherapeutic interventionsPreschoolChildrenDeletionLanguageDisorders
1999
Cognitive and behavior profile of preschool children with chromosome 22q11.2 deletion
Gerdes M, Solot C, Wang P, Moss E, LaRossa D, Randall P, Goldmuntz E, Clark B, Driscoll D, Jawad A, Emanuel B, McDonald‐McGinn D, Batshaw M, Zackai E. Cognitive and behavior profile of preschool children with chromosome 22q11.2 deletion. American Journal Of Medical Genetics 1999, 85: 127-133. PMID: 10406665, DOI: 10.1002/(sici)1096-8628(19990716)85:2<127::aid-ajmg6>3.0.co;2-f.Peer-Reviewed Original ResearchConceptsCardiac surgeryConotruncal cardiac anomaliesConotruncal anomaly face syndromeEarly intervention servicesGlobal developmental delayPreschool childrenChromosome 22q11.2 deletionGross motor skillsMost patientsNeurodevelopmental outcomesCardiac anomaliesMild hypotoniaCardiac diseaseHigh riskPalatal anomaliesCardiac defectsTherapeutic interventionsLate onsetPalatal defectsDevelopmental delayIntervention servicesSpeech delayModerate mental retardationNeuromuscular developmentFace syndrome
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