Expanding the phenotypic profile of Kleefstra syndrome: A female with low-average intelligence and childhood apraxia of speech

American Journal of Medical Genetics. Part a
Carole A Samango-SprouseAndrea L Gropman

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 no...Continue Reading

References

Jun 12, 2004·Language, Speech, and Hearing Services in Schools·Barbara A LewisH Gerry Taylor
Aug 25, 2004·Journal of Speech, Language, and Hearing Research : JSLHR·James LawChad Nye
Aug 23, 2008·Disability and Rehabilitation·Esther Glick TeverovskyHeidi M Feldman
Jul 31, 2009·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Willem M A VerhoevenJos I M Egger
Nov 24, 2011·Clinical Linguistics & Phonetics·Claire TimminsJoanne Cleland
Jun 7, 2012·Molecular Syndromology·M H WillemsenT Kleefstra
Apr 10, 2014·American Journal of Medical Genetics. Part a·Carole A Samango-SprouseAndrea L Gropman

❮ Previous
Next ❯

Related Concepts

Related Feeds

Birth Defects

Birth defects encompass structural and functional alterations that occur during embryonic or fetal development and are present since birth. The cause may be genetic, environmental or unknown and can result in physical and/or mental impairment. Here is the latest research on birth defects.

© 2021 Meta ULC. All rights reserved