PMID- 26833960
OWN - NLM
STAT- MEDLINE
DCOM- 20170104
LR  - 20200930
IS  - 1552-4833 (Electronic)
IS  - 1552-4825 (Linking)
VI  - 170A
IP  - 5
DP  - 2016 May
TI  - Expanding the phenotypic profile of Kleefstra syndrome: A female with low-average 
      intelligence and childhood apraxia of speech.
PG  - 1312-6
LID - 10.1002/ajmg.a.37575 [doi]
AB  - 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.
CI  - (c) 2016 Wiley Periodicals, Inc.
FAU - Samango-Sprouse, Carole
AU  - Samango-Sprouse C
AD  - Neurodevelopmental Diagnostic Center for Young Children, Crofton, Maryland.
AD  - The Focus Foundation, Davidsonville, Maryland.
AD  - Department of Pediatrics, George Washington University, Washington, District of 
      Columbia.
AD  - Department of Human and Molecular Genetics, Florida International University, 
      Miami, Florida.
FAU - Lawson, Patrick
AU  - Lawson P
AD  - The Focus Foundation, Davidsonville, Maryland.
FAU - Sprouse, Courtney
AU  - Sprouse C
AD  - Department of Neurology, Children's National Medical Center, Washington, District 
      of Columbia.
FAU - Stapleton, Emily
AU  - Stapleton E
AD  - The Focus Foundation, Davidsonville, Maryland.
FAU - Sadeghin, Teresa
AU  - Sadeghin T
AD  - Neurodevelopmental Diagnostic Center for Young Children, Crofton, Maryland.
AD  - The Focus Foundation, Davidsonville, Maryland.
FAU - Gropman, Andrea
AU  - Gropman A
AD  - Department of Neurology, Children's National Medical Center, Washington, District 
      of Columbia.
AD  - George Washington University of the Health Sciences, Washington, District of 
      Columbia.
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20160201
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
RN  - Kleefstra Syndrome
SB  - IM
MH  - Apraxias/*genetics/physiopathology
MH  - Child
MH  - Chromosome Deletion
MH  - Chromosomes, Human, Pair 9/genetics
MH  - Craniofacial Abnormalities/*genetics/physiopathology
MH  - Female
MH  - Gene Deletion
MH  - Heart Defects, Congenital/*genetics/physiopathology
MH  - Humans
MH  - Intellectual Disability/*genetics/physiopathology
MH  - Intelligence Tests
MH  - Language Development Disorders/genetics/physiopathology
MH  - Motor Skills Disorders/*genetics/physiopathology
OTO - NOTNLM
OT  - 9q34 deletion syndrome
OT  - Kleefstra syndrome
OT  - childhood apraxia of speech
OT  - developmental dyspraxia
OT  - rare disease
EDAT- 2016/02/03 06:00
MHDA- 2017/01/05 06:00
CRDT- 2016/02/03 06:00
PHST- 2014/11/25 00:00 [received]
PHST- 2016/01/08 00:00 [accepted]
PHST- 2016/02/03 06:00 [entrez]
PHST- 2016/02/03 06:00 [pubmed]
PHST- 2017/01/05 06:00 [medline]
AID - 10.1002/ajmg.a.37575 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2016 May;170A(5):1312-6. doi: 10.1002/ajmg.a.37575. Epub 2016 
      Feb 1.