title: Neurodevelopmental variability in three young girls with a rare chromosomal disorder, 48, XXXX.
abstract: Fourty eight, XXXX is a rare chromosomal aneuploidy associated with neurocognitive deficits, speech and language disorders and executive dysfunction but the scarcity and variability of reported cases limit our understanding of the 48, XXXX phenotype. To our knowledge, this is the first study to report on the neurodevelopmental profile of three young females with 48, XXXX. Patient 1 (age = 11.0), Patient 2 (age = 10.9), and Patient 3 (age = 6.4) were evaluated using comprehensive neurodevelopmental assessments. Parent questionnaires were completed to assess behavioral and psychosocial domains including executive function, ADHD and anxiety. Nonverbal intelligence quotients were 56, 80, and 91 for Patients 1, 2, and 3, respectively. There were significantly impaired visual motor capacities in graphomotor and perceptual domains below the 5th centile in Patients 1 and 2, and mildly impaired visual perception skills in Patient 3. All three patients had Childhood Apraxia of Speech (CAS) but of varying severity and similar executive dysfunction, externalizing problems and social difficulties. Familial learning disabilities (FLD) in Patient 1 and the co-occurrence of ADHD in Patient's 1 and 2 may contribute to their more impaired cognitive performances relative to Patient 3 who is the second reported case of 48, XXXX to have normal intellect. These distinct and overlapping characteristics expand the phenotypic profile of 48, XXXX and may be used in the counseling of families and treatment of children with 48, XXXX.
authors.affiliation: The Focus Foundation, Davidsonville, Maryland.|George Washington University of the Health Sciences, Department of Pediatrics, Washington DC.|Children's National Medical Center, Washington DC.|Neurodevelpmental Diagnostic Center for Children, Davidsonville, Maryland.
authors.forename: Carole
authors.initials: C
authors.lastname: Samango-Sprouse
authors.affiliation: The Focus Foundation, Davidsonville, Maryland.
authors.forename: Colleen
authors.initials: C
authors.lastname: Keen
authors.affiliation: Neurodevelpmental Diagnostic Center for Children, Davidsonville, Maryland.
authors.forename: Francie
authors.initials: F
authors.lastname: Mitchell
authors.affiliation: The Focus Foundation, Davidsonville, Maryland.|Neurodevelpmental Diagnostic Center for Children, Davidsonville, Maryland.
authors.forename: Teresa
authors.initials: T
authors.lastname: Sadeghin
authors.affiliation: Neurodevelopmental Disabilities and Neurogenetics, Children's National Medical Center, Washington DC.|George Washington University School of Medicine, Department of Pediatrics, Washington DC.
authors.forename: Andrea
authors.initials: A
authors.lastname: Gropman
mesh_terms: D001072:Apraxias / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D002648:Child; D003071:Cognition; D019465:Craniofacial Abnormalities / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D007859:Learning Disabilities / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D009043:Motor Activity; D009483:Neuropsychological Tests; D010290:Parents; D010641:Phenotype; D035583:Rare Diseases / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D012729:Sex Chromosome Aberrations; D013060:Speech; D011795:Surveys and Questionnaires
keywords: 48, XXXX; X and Y chromosome variations; aneuploidy; childhood apraxia of speech; sex chromosomes; tetrasomy X