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Expanding the phenotypic profile of Kleefstra syndrome: A female with low‐average intelligence and childhood apraxia of speech
Author(s) -
SamangoSprouse Carole,
Lawson Patrick,
Sprouse Courtney,
Stapleton Emily,
Sadeghin Teresa,
Gropman Andrea
Publication year - 2016
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.37575
Subject(s) - wechsler preschool and primary scale of intelligence , psychology , apraxia , wechsler adult intelligence scale , intelligence quotient , comprehension , developmental psychology , motor coordination , audiology , test (biology) , cognitive psychology , wechsler intelligence scale for children , cognition , aphasia , medicine , psychiatry , linguistics , philosophy , paleontology , biology
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. © 2016 Wiley Periodicals, Inc.