title: Expanding the phenotypic profile of Kleefstra syndrome: A female with low-average intelligence and childhood apraxia of speech.
abstract: Kleefstra syndrome (KS) is a rare neurogenetic disorder most commonly caused by deletion in the 9q34.3 chromosomal region and is associated with intellectual disabilities, severe speech delay, and motor planning deficits. To our knowledge, this is the first patient (PQ, a 6-year-old female) with a 9q34.3 deletion who has near normal intelligence, and developmental dyspraxia with childhood apraxia of speech (CAS). At 6, the Wechsler Preschool and Primary Intelligence testing (WPPSI-III) revealed a Verbal IQ of 81 and Performance IQ of 79. The Beery Buktenica Test of Visual Motor Integration, 5th Edition (VMI) indicated severe visual motor deficits: VMI = 51; Visual Perception = 48; Motor Coordination < 45. On the Receptive One Word Picture Vocabulary Test-R (ROWPVT-R), she had standard scores of 96 and 99 in contrast to an Expressive One Word Picture Vocabulary-R (EOWPVT-R) standard scores of 73 and 82, revealing a discrepancy in vocabulary domains on both evaluations. Preschool Language Scale-4 (PLS-4) on PQ's first evaluation reveals a significant difference between auditory comprehension and expressive communication with standard scores of 78 and 57, respectively, further supporting the presence of CAS. This patient's near normal intelligence expands the phenotypic profile as well as the prognosis associated with KS. The identification of CAS in this patient provides a novel explanation for the previously reported speech delay and expressive language disorder. Further research is warranted on the impact of CAS on intelligence and behavioral outcome in KS. Therapeutic and prognostic implications are discussed.
authors.affiliation: Neurodevelopmental Diagnostic Center for Young Children, Crofton, Maryland.|The Focus Foundation, Davidsonville, Maryland.|Department of Pediatrics, George Washington University, Washington, District of Columbia.|Department of Human and Molecular Genetics, Florida International University, Miami, Florida.
authors.forename: Carole
authors.initials: C
authors.lastname: Samango-Sprouse
authors.affiliation: The Focus Foundation, Davidsonville, Maryland.
authors.forename: Patrick
authors.initials: P
authors.lastname: Lawson
authors.affiliation: Department of Neurology, Children's National Medical Center, Washington, District of Columbia.
authors.forename: Courtney
authors.initials: C
authors.lastname: Sprouse
authors.affiliation: The Focus Foundation, Davidsonville, Maryland.
authors.forename: Emily
authors.initials: E
authors.lastname: Stapleton
authors.affiliation: Neurodevelopmental Diagnostic Center for Young Children, Crofton, Maryland.|The Focus Foundation, Davidsonville, Maryland.
authors.forename: Teresa
authors.initials: T
authors.lastname: Sadeghin
authors.affiliation: Department of Neurology, Children's National Medical Center, Washington, District of Columbia.|George Washington University of the Health Sciences, Washington, District of Columbia.
authors.forename: Andrea
authors.initials: A
authors.lastname: Gropman
mesh_terms: D001072:Apraxias / Q000235:genetics* / Q000503:physiopathology; D002648:Child; D002872:Chromosome Deletion; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics; D019465:Craniofacial Abnormalities / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D017353:Gene Deletion; D006330:Heart Defects, Congenital / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics* / Q000503:physiopathology; D007361:Intelligence Tests; D007805:Language Development Disorders / Q000235:genetics / Q000503:physiopathology; D019957:Motor Skills Disorders / Q000235:genetics* / Q000503:physiopathology
keywords: 9q34 deletion syndrome; Kleefstra syndrome; childhood apraxia of speech; developmental dyspraxia; rare disease